- Poor head control (HP:0002421): Difficulty to maintain correct position of the head while standing or sitting. Infant head lag is observed when the head seems to flop around or lags posteriorly behind the trunk. Several articles have maintained that head lag should be absent by age 3 to 4 months. Evidence: PCS. Frequency: 1/1. (PMID:29230160)
- Positional foot deformity (HP:0005656): A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies. Evidence: PCS. Frequency: 1/4. (PMID:24791903)
- Astigmatism (HP:0000483): A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea. Evidence: PCS. Frequency: 2/2. (PMID:35716097;PMID:30729726)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 3/8. (PMID:35716097;PMID:31182893;PMID:30152016)
- Prominent fingertip pads (HP:0001212): A soft tissue prominence of the ventral aspects of the fingertips. The term "persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist. Evidence: PCS. Frequency: 1/4. (PMID:24791903)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: PCS. Frequency: 11/25. (PMID:35716097;PMID:27148574;PMID:34950897;PMID:29696776;PMID:30152016;PMID:39359946;PMID:33372375)
- Aplasia cutis congenita (HP:0001057): A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs. Evidence: PCS. Frequency: 3/15. (PMID:35716097;PMID:30152016)
- Lambdoidal craniosynostosis (HP:0004443): A kind of craniosynostosis affecting the lambdoidal suture. Evidence: PCS. Frequency: 1/1. (PMID:38357260)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 18/43. (PMID:35716097;PMID:38357260;PMID:27148574;PMID:30622101;PMID:34950897;PMID:30152016;PMID:29696776;PMID:34073322;PMID:39359946;PMID:30729726;PMID:33372375)
- Sagittal craniosynostosis (HP:0004442): A kind of craniosynostosis affecting the sagittal suture. Evidence: PCS. Frequency: 1/9. (PMID:27148574;PMID:29230160;PMID:31182893)
- Upper airway obstruction (HP:0002781): Increased resistance to the passage of air in the upper airway. Evidence: PCS. Frequency: 3/3. (PMID:30152016)
- Coronal craniosynostosis (HP:0004440): Premature closure of the coronal suture of skull. Evidence: PCS. Frequency: 1/1. (PMID:31182893)
- Snoring (HP:0025267): Deep, noisy breathing during sleep, accompanied by hoarse or harsh sounds, is caused by the vibration of respiratory structures, especially the soft palate. This vibration results in sound due to obstructed air movement during breathing while sleeping. Evidence: PCS. Frequency: 2/5. (PMID:31182893;PMID:24791903)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 14/25. (PMID:35716097;PMID:30622101;PMID:34229113;PMID:30152016;PMID:34073322;PMID:39359946;PMID:30729726;PMID:33372375)
- Subcortical U fiber lesion (HP:6000995): Abnormal morphology of subcortical U fibers, typically as assessed by abnromal intensity on magnetic resonance imaging of the brain. Evidence: PCS. Frequency: 1/7. (PMID:27148574)
- Thin corpus callosum (HP:0033725): An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration). Evidence: PCS. Frequency: 12/17. (PMID:27148574;PMID:34229113;PMID:29696776;PMID:30152016;PMID:34073322;PMID:39359946;PMID:24791903;PMID:33372375)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 3/3. (PMID:27148574)
- Shield chest (HP:0000914): A broad chest. Evidence: PCS. Frequency: 1/4. (PMID:24791903)
- Lumbar hyperlordosis (HP:0002938): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: PCS. Frequency: 1/5. (PMID:30152016)
- Long palpebral fissure (HP:0000637): Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures. Evidence: PCS. Frequency: 1/11. (PMID:30622101;PMID:34950897;PMID:30729726;PMID:32256298)
- Subependymal cysts (HP:0002416): Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life. Evidence: PCS. Frequency: 1/7. (PMID:27148574)
- Tracheomalacia (HP:0002779). Evidence: PCS. Frequency: 1/5. (PMID:29230160;PMID:24791903)
- Hyperactivity (HP:0000752): Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate. Evidence: PCS. Frequency: 1/1. (PMID:33372375)
- Abnormality of the head (HP:0000234): An abnormality of the head. Evidence: PCS. Frequency: 1/1. (PMID:30152016)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: PCS. Frequency: 1/1. (PMID:24791903)
- Laryngomalacia (HP:0001601): Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration. Evidence: PCS. Frequency: 3/5. (PMID:29230160;PMID:24791903)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 11/22. (PMID:35716097;PMID:36157999;PMID:34229113;PMID:31182893;PMID:29230160;PMID:30152016)
- Bruxism (HP:0003763): Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep. Evidence: PCS. Frequency: 1/5. (PMID:38357260;PMID:24791903)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: PCS. Frequency: 4/39. (PMID:35716097;PMID:38357260;PMID:30622101;PMID:34229113;PMID:29230160;PMID:34950897;PMID:31182893;PMID:29696776;PMID:30152016;PMID:32256298;PMID:30729726;PMID:24791903)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 4/10. (PMID:38357260;PMID:34950897;PMID:33372375)
- Absent speech (HP:0001344): Complete lack of development of speech and language abilities. Evidence: PCS. Frequency: 12/34. (PMID:35716097;PMID:38357260;PMID:27148574;PMID:30622101;PMID:34229113;PMID:29696776;PMID:30152016;PMID:32256298;PMID:24791903)
- Submucous cleft palate (HP:5201016): A cleft of the muscular portion of the palate that is covered by mucous membrane. Evidence: PCS. Frequency: 1/4. (PMID:34229113)
- Babinski sign (HP:0003487): Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. Evidence: PCS. Frequency: 1/1. (PMID:38357260)
- Deeply set eye (HP:0000490): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: PCS. Frequency: 6/29. (PMID:34229113;PMID:34950897;PMID:29696776;PMID:30152016;PMID:32256298;PMID:30729726)
- Cerebral palsy (HP:0100021): Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems. Evidence: PCS. Frequency: 1/65. (PMID:38357260;PMID:36157999;PMID:27148574;PMID:30622101;PMID:34950897;PMID:30152016;PMID:34073322;PMID:39359946;PMID:30729726;PMID:35716097;PMID:31182893;PMID:29230160;PMID:34229113;PMID:29696776;PMID:32256298;PMID:33372375;PMID:24791903)
- Tube feeding (HP:0033454): Feeding problem necessitating food and nutrient delivery via a tube. Evidence: PCS. Frequency: 1/1. (PMID:24791903)
- Abnormal curvature of the vertebral column (HP:0010674): The presence of an abnormal curvature of the vertebral column. Evidence: PCS. Frequency: 1/1. (PMID:30152016)
- Tapered finger (HP:0001182): The gradual reduction in girth of the finger from proximal to distal. Evidence: PCS. Frequency: 4/5. (PMID:38357260;PMID:39359946;PMID:24791903)
- Amblyopia (HP:0000646): Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Evidence: PCS. Frequency: 1/1. (PMID:30729726)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: PCS. Frequency: 2/3. (PMID:35716097;PMID:39359946)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: PCS. Frequency: 3/12. (PMID:35716097;PMID:34950897;PMID:30152016)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: PCS. Frequency: 4/14. (PMID:36157999;PMID:31182893;PMID:30152016;PMID:30729726;PMID:32256298)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:24791903)
- Brachycephaly (HP:0000248): An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. Evidence: PCS. Frequency: 3/13. (PMID:36157999;PMID:34950897;PMID:31182893;PMID:39359946;PMID:32256298)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: PCS. Frequency: 13/41. (PMID:38357260;PMID:35716097;PMID:34229113;PMID:34950897;PMID:31182893;PMID:29696776;PMID:30152016;PMID:34073322;PMID:30729726;PMID:24791903)
- Myoclonus (HP:0001336): Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. Evidence: PCS. Frequency: 1/1. (PMID:32256298)
- Hypertonia (HP:0001276): A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. Evidence: PCS. Frequency: 6/11. (PMID:31182893;PMID:30152016)
- Narrow forehead (HP:0000341): Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective). Evidence: PCS. Frequency: 2/16. (PMID:38357260;PMID:36157999;PMID:31182893;PMID:30152016;PMID:39359946;PMID:32256298)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 8/21. (PMID:35716097;PMID:38357260;PMID:30152016;PMID:24791903)
- Upslanted palpebral fissure (HP:0000582): The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age. Evidence: PCS. Frequency: 14/40. (PMID:35716097;PMID:38357260;PMID:30622101;PMID:29230160;PMID:34229113;PMID:34950897;PMID:31182893;PMID:29696776;PMID:30152016;PMID:30729726;PMID:32256298;PMID:24791903)
- Long philtrum (HP:0000343): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: PCS. Frequency: 6/14. (PMID:35716097;PMID:38357260;PMID:36157999;PMID:31182893;PMID:30152016;PMID:39359946;PMID:32256298;PMID:30729726)
- Anteverted nares (HP:0000463): Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). Evidence: PCS. Frequency: 5/13. (PMID:35716097;PMID:29230160;PMID:34229113;PMID:39359946;PMID:32256298;PMID:30729726;PMID:24791903)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: PCS. Frequency: 2/2. (PMID:30729726)
- Hypoplasia of the brainstem (HP:0002365): Underdevelopment of the brainstem. Evidence: PCS. Frequency: 1/7. (PMID:27148574)
- Short columella (HP:0002000): Reduced distance from the anterior border of the naris to the subnasale. Evidence: PCS. Frequency: 2/6. (PMID:30152016;PMID:30729726)
- Agenesis of corpus callosum (HP:0001274): Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. Evidence: PCS. Frequency: 1/4. (PMID:34229113)
- Sleep disturbance (HP:0002360): An abnormal pattern in the quality, quantity, or characteristics of sleep. Evidence: PCS. Frequency: 2/2. (PMID:27148574)
- Abnormal corpus callosum morphology (HP:0001273): Abnormality of the corpus callosum. Evidence: PCS. Frequency: 1/1. (PMID:30152016)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 1/4. (PMID:24791903)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 9/9. (PMID:38357260;PMID:30622101;PMID:34229113;PMID:30152016)
- Focal emotional seizure with laughing (HP:0010821): Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless'. Evidence: PCS. Frequency: 1/4. (PMID:24791903)
- Cerebral visual impairment (HP:0100704): A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye. Evidence: PCS. Frequency: 4/19. (PMID:27148574;PMID:30152016;PMID:24791903)
- Anxiety (HP:0000739): Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. Evidence: PCS. Frequency: 5/7. (PMID:38357260;PMID:30622101;PMID:30152016)
- Arachnoid cyst (HP:0100702): An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid. Evidence: PCS. Frequency: 2/9. (PMID:27148574;PMID:30729726)
- Broad forehead (HP:0000337): Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. Evidence: PCS. Frequency: 21/35. (PMID:35716097;PMID:38357260;PMID:36157999;PMID:30622101;PMID:31182893;PMID:34229113;PMID:34950897;PMID:30152016;PMID:29696776;PMID:30729726;PMID:32256298)
- Periventricular leukomalacia (HP:0006970): Periventricular leukomalacia is characterized by diffuse injury of deep cerebral white matter, accompanied in its most severe form by focal necrosis. The neuropathologic hallmarks of PVL are microglial activation and focal and diffuse periventricular depletion of premyelinating oligodendroglia. Evidence: PCS. Frequency: 1/7. (PMID:27148574)
- Thin upper lip vermilion (HP:0000219): Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). Evidence: PCS. Frequency: 25/39. (PMID:38357260;PMID:36157999;PMID:34950897;PMID:30152016;PMID:39359946;PMID:30729726;PMID:35716097;PMID:31182893;PMID:34229113;PMID:29230160;PMID:29696776;PMID:32256298;PMID:33372375)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: PCS. Frequency: 1/2. (PMID:39359946)
- Clinodactyly (HP:0030084): An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). Evidence: PCS. Frequency: 2/5. (PMID:24791903;PMID:33372375)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: PCS. Frequency: 6/14. (PMID:35716097;PMID:38357260;PMID:36157999;PMID:39359946;PMID:30729726;PMID:33372375;PMID:24791903)
- Soft skin (HP:0000977): Subjective impression of increased softness upon palpation of the skin. Evidence: PCS. Frequency: 3/7. (PMID:30622101;PMID:30152016)
- Spinal muscular atrophy (HP:0007269): Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. Evidence: PCS. Frequency: 2/2. (PMID:24791903)
- Broad nasal tip (HP:0000455): Increase in width of the nasal tip. Evidence: PCS. Frequency: 2/5. (PMID:30152016;PMID:39359946)
- Wide intermamillary distance (HP:0006610): A larger than usual distance between the left and right nipple. Evidence: PCS. Frequency: 1/4. (PMID:24791903)
- Exotropia (HP:0000577): A form of strabismus with one or both eyes deviated outward. Evidence: PCS. Frequency: 4/12. (PMID:27148574;PMID:34229113;PMID:34073322)
- Broad-based gait (HP:0002136): An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia. Evidence: PCS. Frequency: 1/1. (PMID:27148574)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: PCS. Frequency: 1/1. (PMID:32256298)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 40/40. (PMID:38357260;PMID:30622101;PMID:27148574;PMID:34950897;PMID:30152016;PMID:34073322;PMID:39359946;PMID:30729726;PMID:35716097;PMID:34229113;PMID:29230160;PMID:29696776;PMID:32256298;PMID:24791903)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 16/39. (PMID:35716097;PMID:27148574;PMID:30622101;PMID:34229113;PMID:34950897;PMID:29696776;PMID:30152016;PMID:34073322;PMID:39359946;PMID:32256298;PMID:24791903)
- Developmental regression (HP:0002376): Loss of developmental skills, as manifested by loss of developmental milestones. Evidence: PCS. Frequency: 1/1. (PMID:27148574)
- Everted lower lip vermilion (HP:0000232): An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view. Evidence: PCS. Frequency: 1/5. (PMID:38357260;PMID:36157999;PMID:39359946;PMID:30729726)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: PCS. Frequency: 2/2. (PMID:27148574;PMID:24791903)
- Recurrent patellar dislocation (HP:0005001): Patellar dislocation occurring repeated times. Evidence: PCS. Frequency: 3/12. (PMID:35716097;PMID:30152016;PMID:39359946)
- Spastic tetraparesis (HP:0001285): Spastic weakness affecting all four limbs. Evidence: PCS. Frequency: 1/31. (PMID:35716097;PMID:38357260;PMID:27148574;PMID:30622101;PMID:29696776;PMID:34073322;PMID:39359946)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: PCS. Frequency: 1/4. (PMID:35716097;PMID:39359946)
- Horizontal eyebrow (HP:0011228): An eyebrow that extends straight across the brow, without curve. Evidence: PCS. Frequency: 6/15. (PMID:29230160;PMID:31182893;PMID:30152016;PMID:32256298;PMID:30729726;PMID:24791903)
- Sleep apnea (HP:0010535): An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep. Evidence: PCS. Frequency: 9/29. (PMID:27148574;PMID:34229113;PMID:34950897;PMID:29696776;PMID:34073322;PMID:39359946;PMID:32256298)
- Impulsivity (HP:0100710): Acting on the spur of the moment or on a momentary basis without consideration of outcomes; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in behavior that is uninhibited, cannot be inhibited, and is uncontrolled. The possibility of repression is inconceivable. Evidence: PCS. Frequency: 3/6. (PMID:27148574;PMID:34229113;PMID:33372375)
- Impaired toileting ability (HP:0031061): This term applies to an individual who requires help transferring to the toilet, cleaning self or who uses bedpan or commode. Evidence: PCS. Frequency: 1/1. (PMID:27148574)
- Reduced cerebral white matter volume (HP:0034295): An abnormally low volume of the white matter of the brain. Evidence: PCS. Frequency: 4/11. (PMID:27148574;PMID:29230160;PMID:39359946;PMID:30729726)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: PCS. Frequency: 14/41. (PMID:35716097;PMID:27148574;PMID:34229113;PMID:29230160;PMID:31182893;PMID:30152016;PMID:29696776;PMID:32256298;PMID:30729726;PMID:24791903)
- High forehead (HP:0000348): An abnormally increased height of the forehead. Evidence: PCS. Frequency: 2/2. (PMID:35716097)
- Decreased activity of mitochondrial complex IV (HP:0008347): A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria. Evidence: PCS. Frequency: 1/1. (PMID:27148574)
- Self-injurious behavior (HP:0100716): Self-aggression. Evidence: PCS. Frequency: 9/14. (PMID:38357260;PMID:30622101;PMID:27148574;PMID:31182893;PMID:34229113;PMID:30152016;PMID:33372375)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: PCS. Frequency: 3/14. (PMID:36157999;PMID:30152016;PMID:39359946;PMID:32256298)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 12/27. (PMID:38357260;PMID:36157999;PMID:34229113;PMID:29230160;PMID:31182893;PMID:29696776;PMID:39359946;PMID:30729726;PMID:32256298;PMID:24791903)
- Neonatal respiratory distress (HP:0002643): Respiratory difficulty as newborn. Evidence: PCS. Frequency: 1/1. (PMID:31182893)
- Bilateral tonic-clonic seizure (HP:0002069): A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase. Evidence: PCS. Frequency: 1/1. (PMID:30622101)
- Epicanthus (HP:0000286): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: PCS. Frequency: 2/2. (PMID:29230160;PMID:30729726)
- Impaired mastication (HP:0005216): An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing. Evidence: PCS. Frequency: 1/1. (PMID:24791903)
- Poor speech (HP:0002465). Evidence: PCS. Frequency: 7/7. (PMID:27148574;PMID:29230160)
- Congenital hip dislocation (HP:0001374). Evidence: PCS. Frequency: 1/1. (PMID:38357260)
- Tented upper lip vermilion (HP:0010804): Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base. Evidence: PCS. Frequency: 3/14. (PMID:38357260;PMID:36157999;PMID:31182893;PMID:34229113;PMID:29230160;PMID:39359946;PMID:32256298;PMID:30729726;PMID:33372375;PMID:24791903)
- Bradykinesia (HP:0002067): Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement). Evidence: PCS. Frequency: 1/1. (PMID:32256298)
- Delayed CNS myelination (HP:0002188): Delayed myelination in the central nervous system. Evidence: PCS. Frequency: 7/10. (PMID:35716097;PMID:34229113;PMID:39359946;PMID:24791903)
- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: PCS. Frequency: 4/14. (PMID:38357260;PMID:35716097;PMID:30622101;PMID:34229113;PMID:31182893;PMID:30152016;PMID:33372375;PMID:24791903)
- Moderate intellectual disability (HP:0002342): Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49. Evidence: PCS. Frequency: 8/13. (PMID:35716097;PMID:38357260;PMID:30622101;PMID:31182893;PMID:34229113;PMID:30152016;PMID:33372375;PMID:24791903)
- Short foot (HP:0001773): A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). Evidence: PCS. Frequency: 4/6. (PMID:35716097;PMID:30622101;PMID:24791903)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: PCS. Frequency: 14/30. (PMID:27148574;PMID:34229113;PMID:34950897;PMID:29696776;PMID:39359946;PMID:32256298;PMID:24791903)
- Gait ataxia (HP:0002066): A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. Evidence: PCS. Frequency: 5/13. (PMID:38357260;PMID:35716097;PMID:30622101;PMID:27148574;PMID:34229113)
- Narrow mouth (HP:0000160): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: PCS. Frequency: 1/11. (PMID:38357260;PMID:36157999;PMID:30622101;PMID:29230160;PMID:39359946;PMID:32256298;PMID:24791903)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 4/4. Onset: Congenital onset (HP:0003577). (PMID:24791903)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 6/7. (PMID:27148574)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 2/5. (PMID:35716097)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 1/1. (PMID:32256298)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 2/2. (PMID:38357260)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 12/14. (PMID:29696776)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 1/1. (PMID:29230160)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 2/2. (PMID:39359946)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 9/10. (PMID:30152016)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 4/4. (PMID:34229113)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 2/2. (PMID:30729726)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 6/8. (PMID:34950897)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 1/1. (PMID:36157999)
- Ataxia (HP:0001251): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: PCS. Frequency: 14/23. (PMID:27148574;PMID:34950897;PMID:29696776;PMID:32256298)
- Relative macrocephaly (HP:0004482): A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account. Evidence: PCS. Frequency: 2/4. (PMID:24791903)
- Coarse facial features (HP:0000280): Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. Evidence: PCS. Frequency: 2/15. (PMID:38357260;PMID:36157999;PMID:34950897;PMID:31182893;PMID:39359946;PMID:32256298;PMID:30729726)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 2/6. (PMID:35716097;PMID:32256298)
- Smooth philtrum (HP:0000319): Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border. Evidence: PCS. Frequency: 5/14. (PMID:38357260;PMID:35716097;PMID:36157999;PMID:31182893;PMID:34073322;PMID:39359946;PMID:30729726;PMID:32256298;PMID:33372375)
- Aggressive behavior (HP:0000718): Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires). Evidence: PCS. Frequency: 7/23. (PMID:38357260;PMID:30622101;PMID:34229113;PMID:29696776;PMID:32256298;PMID:33372375)
- Autism (HP:0000717): Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). Evidence: PCS. Frequency: 11/28. (PMID:35716097;PMID:27148574;PMID:34950897;PMID:29696776;PMID:34073322)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Frequency: 14/35. (PMID:35716097;PMID:34950897;PMID:34229113;PMID:29230160;PMID:29696776;PMID:30729726;PMID:32256298;PMID:24791903)
- Single transverse palmar crease (HP:0000954): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. Evidence: PCS. Frequency: 5/8. (PMID:35716097;PMID:34229113;PMID:30729726)
- Delayed ability to sit (HP:0025336): A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age. Evidence: PCS. Frequency: 11/12. (PMID:36157999;PMID:34229113;PMID:29230160;PMID:30152016;PMID:30729726;PMID:24791903;PMID:33372375)
- Retrocerebellar cyst (HP:0006951). Evidence: PCS. Frequency: 4/15. (PMID:27148574;PMID:34229113;PMID:24791903)
- Pes planus (HP:0001763): A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. Evidence: PCS. Frequency: 3/11. (PMID:35716097;PMID:38357260;PMID:34229113;PMID:33372375)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 19/19. (PMID:35716097;PMID:27148574;PMID:30152016;PMID:39359946;PMID:32256298;PMID:24791903)
- Simple ear (HP:0020206): The pinna has fewer folds and grooves than usual. Evidence: PCS. Frequency: 2/8. (PMID:38357260;PMID:30152016;PMID:30729726)
- Progressive muscle weakness (HP:0003323). Evidence: PCS. Frequency: 1/1. (PMID:24791903)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: PCS. Frequency: 1/16. (PMID:38357260;PMID:36157999;PMID:34950897;PMID:39359946;PMID:32256298;PMID:30729726)
- Micropenis (HP:0000054): Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. Evidence: PCS. Frequency: 1/2. (PMID:24791903)
- EEG abnormality (HP:0002353): Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp. Evidence: PCS. Frequency: 1/1. (PMID:27148574)
- Obstructive sleep apnea (HP:0002870): Obstructive Sleep Apnea is a condition characterized by the obstruction of the airway and pauses in breathing during sleep, which occur multiple times throughout the night. It is related to the relaxation of muscle tone that typically happens during sleep, leading to a partial collapse of the soft tissues in the airway and causing airflow obstruction. Evidence: PCS. Frequency: 8/9. (PMID:35716097;PMID:38357260;PMID:30152016;PMID:24791903)
- Trismus (HP:0000211): Limitation in the ability to open the mouth. Evidence: PCS. Frequency: 1/1. (PMID:24791903)
- Hypoplasia of the corpus callosum (HP:0002079): Underdevelopment of the corpus callosum. Evidence: PCS. Frequency: 7/9. (PMID:38357260;PMID:30152016;PMID:24791903)
- Short chin (HP:0000331): Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin. Evidence: PCS. Frequency: 2/12. (PMID:36157999;PMID:30152016;PMID:32256298;PMID:30729726)
- Delayed ability to stand (HP:0025335): A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months. Evidence: PCS. Frequency: 1/1. (PMID:29230160)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: PCS. Frequency: 10/15. (PMID:35716097;PMID:27148574;PMID:30152016;PMID:24791903)
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: PCS. Frequency: 17/18. (PMID:35716097;PMID:27148574;PMID:34229113;PMID:30152016;PMID:39359946)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 54/54. (PMID:38357260;PMID:36157999;PMID:27148574;PMID:30622101;PMID:30152016;PMID:34073322;PMID:39359946;PMID:30729726;PMID:35716097;PMID:29230160;PMID:34229113;PMID:29696776;PMID:32256298;PMID:24791903;PMID:33372375)
- Hypoxemia (HP:0012418): An abnormally low level of blood oxygen. Evidence: PCS. Frequency: 1/1. (PMID:29230160)
- Ankle clonus (HP:0011448): Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward. Evidence: PCS. Frequency: 2/2. (PMID:38357260;PMID:36157999)
- Autistic behavior (HP:0000729): Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. Evidence: PCS. Frequency: 10/15. (PMID:35716097;PMID:38357260;PMID:27148574;PMID:34229113;PMID:31182893;PMID:30152016;PMID:24791903)
- Temporal cortical atrophy (HP:0007112): Atrophy of the temporal cortex. Evidence: PCS. Frequency: 1/1. (PMID:29230160)
- Omphalocele (HP:0001539): A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord. Evidence: PCS. Frequency: 1/7. (PMID:27148574)
- Almond-shaped palpebral fissure (HP:0007874): A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point. Evidence: PCS. Frequency: 1/9. (PMID:34950897;PMID:32256298)
- Esotropia (HP:0000565): A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more. Evidence: PCS. Frequency: 8/26. (PMID:27148574;PMID:34229113;PMID:29696776;PMID:34073322;PMID:24791903)
- Macular dystrophy (HP:0007754): Macular dystrophy is a nonspecific term for retinal degeneration, generally confined to the macula, usually presumed of genetic origin. Evidence: PCS. Frequency: 1/1. (PMID:27148574)
- Broad philtrum (HP:0000289): Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum. Evidence: PCS. Frequency: 1/6. (PMID:35716097;PMID:39359946)
- Focal-onset seizure (HP:0007359): A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures. Evidence: PCS. Frequency: 1/4. (PMID:35716097)
- Mitral regurgitation (HP:0001653): An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction. Evidence: PCS. Frequency: 1/4. (PMID:38357260;PMID:31182893;PMID:34073322;PMID:33372375)
- Short philtrum (HP:0000322): Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border. Evidence: PCS. Frequency: 3/17. (PMID:35716097;PMID:38357260;PMID:36157999;PMID:31182893;PMID:30152016;PMID:39359946;PMID:30729726;PMID:32256298;PMID:33372375)
- Respiratory failure requiring assisted ventilation (HP:0004887): A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation. Evidence: PCS. Frequency: 1/1. (PMID:29230160)
- Widely spaced teeth (HP:0000687): Increased spaces (diastemata) between most of the teeth in the same dental arch. Evidence: PCS. Frequency: 5/9. (PMID:38357260;PMID:30152016;PMID:24791903)
- Small earlobe (HP:0000385): Reduced volume of the earlobe. Evidence: PCS. Frequency: 3/23. (PMID:34229113;PMID:29230160;PMID:29696776;PMID:39359946;PMID:32256298;PMID:30729726;PMID:24791903)
- Hypermetropia (HP:0000540): An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. Evidence: PCS. Frequency: 13/21. (PMID:35716097;PMID:34229113;PMID:34950897;PMID:34073322;PMID:39359946;PMID:24791903)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: PCS. Frequency: 3/9. (PMID:30152016;PMID:39359946)
- Cerebral hypomyelination (HP:0006808): Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system. Evidence: PCS. Frequency: 1/7. (PMID:27148574)
- Narrow nail (HP:0011313): Decreased width of nail. Evidence: PCS. Frequency: 1/1. (PMID:24791903)
- Enlarged cisterna magna (HP:0002280): Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata. Evidence: PCS. Frequency: 3/3. (PMID:34073322;PMID:39359946)
- Bicoronal synostosis (HP:0011318): Synostosis affecting the right and the left coronal suture. Evidence: PCS. Frequency: 1/1. (PMID:30152016)
- Severe intellectual disability (HP:0010864): Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34. Evidence: PCS. Frequency: 6/15. (PMID:35716097;PMID:38357260;PMID:30622101;PMID:31182893;PMID:34229113;PMID:30152016;PMID:34073322;PMID:33372375)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 9/15. (PMID:27148574;PMID:30152016;PMID:24791903)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: PCS. Frequency: 2/12. (PMID:38357260;PMID:35716097;PMID:31182893;PMID:30152016;PMID:34073322;PMID:24791903)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: PCS. Frequency: 2/11. (PMID:38357260;PMID:31182893;PMID:34950897)
- Low hanging columella (HP:0009765): Columella extending inferior to the level of the nasal base, when viewed from the side. Evidence: PCS. Frequency: 1/4. (PMID:30152016)
- Cupped ear (HP:0000378): Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura). Evidence: PCS. Frequency: 2/11. (PMID:35716097;PMID:38357260;PMID:30152016)
- Protruding ear (HP:0000411): Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective). Evidence: PCS. Frequency: 5/22. (PMID:34229113;PMID:29696776;PMID:39359946;PMID:30729726;PMID:32256298;PMID:24791903)
- Macrocephaly (HP:0000256): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: PCS. Frequency: 6/13. (PMID:38357260;PMID:30622101;PMID:34229113;PMID:34950897)
- Overfolded helix (HP:0000396): A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear. Evidence: PCS. Frequency: 2/13. (PMID:30152016;PMID:39359946;PMID:32256298;PMID:30729726)
- Wide mouth (HP:0000154): Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). Evidence: PCS. Frequency: 1/1. (PMID:30622101)
- Cerebral atrophy (HP:0002059): Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. Evidence: PCS. Frequency: 4/4. (PMID:30622101;PMID:30152016)
- Craniosynostosis (HP:0001363): Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. Evidence: PCS. Frequency: 0/5. (PMID:30152016;PMID:34073322)
- Frontal cortical atrophy (HP:0006913): Atrophy of the frontal cortex. Evidence: PCS. Frequency: 1/1. (PMID:29230160)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: PCS. Frequency: 1/7. (PMID:27148574)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: PCS. Frequency: 1/12. (PMID:34950897;PMID:39359946;PMID:30729726;PMID:32256298)
- Delayed ability to walk (HP:0031936): A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months. Evidence: PCS. Frequency: 35/40. (PMID:38357260;PMID:35716097;PMID:27148574;PMID:34950897;PMID:29230160;PMID:34229113;PMID:30152016;PMID:29696776;PMID:34073322;PMID:30729726;PMID:24791903;PMID:33372375)
- Pes cavus (HP:0001761): An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight). Evidence: PCS. Frequency: 6/16. (PMID:38357260;PMID:27148574;PMID:34229113;PMID:39359946;PMID:33372375)
- Underdeveloped nasal alae (HP:0000430): Thinned, deficient, or excessively arched ala nasi. Evidence: PCS. Frequency: 3/7. (PMID:30152016;PMID:39359946;PMID:30729726)
- Uplifted earlobe (HP:0009909): An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly. Evidence: PCS. Frequency: 6/25. (PMID:35716097;PMID:29230160;PMID:29696776;PMID:39359946;PMID:32256298;PMID:30729726;PMID:24791903;PMID:33372375)
- Narrow palpebral fissure (HP:0045025): Reduction in the vertical distance between the upper and lower eyelids. Evidence: PCS. Frequency: 1/1. (PMID:30622101)
- Extra-axial cerebrospinal fluid accumulation (HP:0012510): An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space. Evidence: PCS. Frequency: 1/7. (PMID:27148574)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 14/26. (PMID:31182893;PMID:34229113;PMID:29230160;PMID:29696776;PMID:34073322;PMID:39359946;PMID:32256298;PMID:30729726;PMID:24791903)
- Abnormality of the cochlear nerve (HP:0011396): Any anomaly of the cohclear nerve, which is the part of the vestibulocochlear nerve that is responsible for transmitting auditory signals from the inner ear to the cochlear nuclei within the brainstem and ultimately to the primary auditory cortex within the temporal lobe. Evidence: PCS. Frequency: 1/1. (PMID:27148574)
- Bilateral tonic-clonic seizure with focal onset (HP:0007334): A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase. Evidence: PCS. Frequency: 1/1. (PMID:34073322)
- Chronic otitis media (HP:0000389): Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear. Evidence: PCS. Frequency: 1/1. (PMID:24791903)
- Dolichocephaly (HP:0000268): An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. Evidence: PCS. Frequency: 1/1. (PMID:38357260)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: PCS. Frequency: 1/1. (PMID:35716097)
- Plagiocephaly (HP:0001357): Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape. Evidence: PCS. Frequency: 4/12. (PMID:35716097;PMID:30152016;PMID:24791903)
- Small hand (HP:0200055): Disproportionately small hand. Evidence: PCS. Frequency: 2/4. (PMID:24791903)
- Synophrys (HP:0000664): Meeting of the medial eyebrows in the midline. Evidence: PCS. Frequency: 3/8. (PMID:35716097;PMID:30152016;PMID:32256298)
- Atrial septal defect (HP:0001631): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: PCS. Frequency: 2/6. (PMID:35716097;PMID:38357260;PMID:27148574;PMID:31182893;PMID:30152016;PMID:34073322)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: PCS. Frequency: 2/6. (PMID:35716097;PMID:27148574)
- Simplified gyral pattern (HP:0009879): An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly. Evidence: PCS. Frequency: 3/8. (PMID:34229113;PMID:24791903)
These phenotypes are associated with the disease AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome (OMIM:615829).