- Encephalopathy (HP:0001298, a Human Phenotype Ontology term): Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. Evidence: PCS. Frequency: 0/49. (PMID:38991538)
- Cavum septum pellucidum (HP:0002389, a Human Phenotype Ontology term): If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space. Evidence: PCS. Frequency: 1/45. (PMID:38991538)
- Short stature (HP:0004322, a Human Phenotype Ontology term): 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: 38/50. (PMID:38859706;PMID:38991538)
- Gastroesophageal reflux (HP:0002020, a Human Phenotype Ontology term): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: PCS. Frequency: 26/55. (PMID:38859706;PMID:38991538;PMID:39369315)
- Small pituitary gland (HP:0012506, a Human Phenotype Ontology term): An abnormally decreased size of the pituitary gland. Evidence: PCS. Frequency: 2/45. (PMID:38991538)
- Deep palmar crease (HP:0006191, a Human Phenotype Ontology term): Excessively deep creases of the palm. Evidence: PCS. Frequency: 1/49. (PMID:38991538)
- Nystagmus (HP:0000639, a Human Phenotype Ontology term): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 25/51. (PMID:38991538;PMID:39369315)
- Periventricular heterotopia (HP:0007165, a Human Phenotype Ontology term): A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass. Evidence: PCS. Frequency: 2/6. (PMID:38991538)
- Short sternum (HP:0000879, a Human Phenotype Ontology term): Decreased inferosuperior length of the sternum. Evidence: PCS. Frequency: 6/50. (PMID:38859706;PMID:38991538)
- Diabetes insipidus (HP:0000873, a Human Phenotype Ontology term): A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus). Evidence: PCS. Frequency: 12/53. (PMID:38991538;PMID:39369315)
- Constipation (HP:0002019, a Human Phenotype Ontology term): Infrequent or difficult evacuation of feces. Evidence: PCS. Frequency: 35/55. (PMID:38991538;PMID:39369315)
- Cavernous hemangioma (HP:0001048, a Human Phenotype Ontology term): The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma. Evidence: PCS. Frequency: 1/45. (PMID:38991538)
- Tube feeding (HP:0033454, a Human Phenotype Ontology term): Feeding problem necessitating food and nutrient delivery via a tube. Evidence: PCS. Frequency: 15/53. (PMID:38859706;PMID:38991538;PMID:39369315)
- Cerebral palsy (HP:0100021, a Human Phenotype Ontology term): 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: 9/50. (PMID:38859706;PMID:38991538)
- Tapered finger (HP:0001182, a Human Phenotype Ontology term): The gradual reduction in girth of the finger from proximal to distal. Evidence: PCS. Frequency: 2/49. (PMID:38991538)
- Adducted thumb (HP:0001181, a Human Phenotype Ontology term): In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger. Evidence: PCS. Frequency: 1/49. (PMID:38991538)
- Pectus excavatum (HP:0000767, a Human Phenotype Ontology term): 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: 0/11. (PMID:39369315)
- Recurrent otitis media (HP:0000403, a Human Phenotype Ontology term): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 2/11. (PMID:39369315)
- Long eyelashes (HP:0000527, a Human Phenotype Ontology term): Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective). Evidence: PCS. Frequency: 4/50. (PMID:38859706;PMID:38991538)
- Pectus carinatum (HP:0000768, a Human Phenotype Ontology term): A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. Evidence: PCS. Frequency: 2/11. (PMID:39369315)
- Macrotia (HP:0000400, a Human Phenotype Ontology term): Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). Evidence: PCS. Frequency: 3/49. (PMID:38991538)
- Narrow palate (HP:0000189, a Human Phenotype Ontology term): Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective). Evidence: PCS. Frequency: 7/11. (PMID:39369315)
- Deep philtrum (HP:0002002, a Human Phenotype Ontology term): Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border. Evidence: PCS. Frequency: 1/50. (PMID:38859706;PMID:38991538)
- Sleep disturbance (HP:0002360, a Human Phenotype Ontology term): An abnormal pattern in the quality, quantity, or characteristics of sleep. Evidence: PCS. Frequency: 5/60. (PMID:38991538;PMID:39369315)
- Motor delay (HP:0001270, a Human Phenotype Ontology term): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 11/11. (PMID:39369315)
- Self-biting (HP:0012169, a Human Phenotype Ontology term): Habitual biting of one's own body. Evidence: PCS. Frequency: 11/48. (PMID:38991538)
- Irritability (HP:0000737, a Human Phenotype Ontology term): An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity). Evidence: PCS. Frequency: 4/60. (PMID:38991538;PMID:39369315)
- Arachnoid cyst (HP:0100702, a Human Phenotype Ontology term): An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid. Evidence: PCS. Frequency: 2/45. (PMID:38991538)
- Blindness (HP:0000618, a Human Phenotype Ontology term): Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation. Evidence: PCS. Frequency: 1/49. (PMID:38991538)
- Anxiety (HP:0000739, a Human Phenotype Ontology term): 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: 2/2. (PMID:38991538)
- Periventricular leukomalacia (HP:0006970, a Human Phenotype Ontology term): 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: 1/45. (PMID:38991538)
- Motor stereotypy (HP:0000733, a Human Phenotype Ontology term): Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose. Evidence: PCS. Frequency: 11/16. (PMID:38991538;PMID:39369315)
- Ventriculomegaly (HP:0002119, a Human Phenotype Ontology term): An increase in size of the ventricular system of the brain. Evidence: PCS. Frequency: 8/55. (PMID:38991538;PMID:39369315)
- Short attention span (HP:0000736, a Human Phenotype Ontology term): Reduced attention span characterized by distractibility and impulsivity. Evidence: PCS. Frequency: 10/11. (PMID:39369315)
- Thick lower lip vermilion (HP:0000179, a Human Phenotype Ontology term): Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective). Evidence: PCS. Frequency: 2/49. (PMID:38991538)
- Arachnodactyly (HP:0001166, a Human Phenotype Ontology term): Abnormally long and slender fingers (spider fingers). Evidence: PCS. Frequency: 1/50. (PMID:38859706;PMID:38991538)
- Dysphagia (HP:0002015, a Human Phenotype Ontology term): Difficulty in swallowing. Evidence: PCS. Frequency: 2/49. (PMID:38991538)
- Broad-based gait (HP:0002136, a Human Phenotype Ontology term): 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: 1/49. (PMID:38991538)
- Delayed speech and language development (HP:0000750, a Human Phenotype Ontology term): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 9/9. (PMID:38991538;PMID:39369315)
- Gait disturbance (HP:0001288, a Human Phenotype Ontology term): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: PCS. Frequency: 15/15. (PMID:38991538;PMID:39369315)
- Developmental regression (HP:0002376, a Human Phenotype Ontology term): Loss of developmental skills, as manifested by loss of developmental milestones. Evidence: PCS. Frequency: 0/11. (PMID:39369315)
- Open mouth (HP:0000194, a Human Phenotype Ontology term): A facial appearance characterized by a permanently or nearly permanently opened mouth. Evidence: PCS. Frequency: 13/20. (PMID:38991538;PMID:39369315)
- Bifid uvula (HP:0000193, a Human Phenotype Ontology term): Uvula separated into two parts most easily seen at the tip. Evidence: PCS. Frequency: 1/40. (PMID:38991538)
- Periventricular nodular heterotopia (HP:0032388, a Human Phenotype Ontology term): Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple. Evidence: PCS. Frequency: 1/45. (PMID:38991538)
- Reduced circulating growth hormone concentration (HP:0034323, a Human Phenotype Ontology term): Concentration of growth hormone in the blood circulation below normal limits. Evidence: PCS. Frequency: 11/33. (PMID:38991538)
- Impaired toileting ability (HP:0031061, a Human Phenotype Ontology term): This term applies to an individual who requires help transferring to the toilet, cleaning self or who uses bedpan or commode. Evidence: PCS. Frequency: 10/11. (PMID:39369315)
- Shoulder dimple (HP:0010782, a Human Phenotype Ontology term): A subtype of skin dimples occurring in the shoulder region. Evidence: PCS. Frequency: 1/10. (PMID:38859706;PMID:38991538)
- Telecanthus (HP:0000506, a Human Phenotype Ontology term): Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. Evidence: PCS. Frequency: 1/49. (PMID:38991538)
- Arachnoid granulation (HP:0034454, a Human Phenotype Ontology term): Arachnoid granulations (AGs) are tufts of arachnoid membrane invaginated into the dural sinuses through which cerebrospinal fluid (CSF) enters the venous system. The lesions are primarily located in the parasagittal region along the superior sagittal sinus, which is occasionally seen at the transverse sinus. Normally dural venous sinus AGs typically range from 2 to 8 mm in size, but may grow enough to expand the dural sinuses, and even the inner table, diploic space and outer table of the skull. Evidence: PCS. Frequency: 3/45. (PMID:38991538)
- Hyperintensity of cerebral white matter on MRI (HP:0030890, a Human Phenotype Ontology term): A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter. Evidence: PCS. Frequency: 1/45. (PMID:38991538)
- Self-injurious behavior (HP:0100716, a Human Phenotype Ontology term): Self-aggression. Evidence: PCS. Frequency: 1/1. (PMID:38991538)
- Triangular-shaped open mouth (HP:0200096, a Human Phenotype Ontology term): A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle. Evidence: PCS. Frequency: 1/40. (PMID:38991538)
- Epicanthus (HP:0000286, a Human Phenotype Ontology term): 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: 13/20. (PMID:38991538;PMID:39369315)
- Moderate intellectual disability (HP:0002342, a Human Phenotype Ontology term): 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: 1/5. (PMID:38991538)
- Seizure (HP:0001250, a Human Phenotype Ontology term): 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: 45/60. (PMID:38859706;PMID:38991538;PMID:39369315)
- Narrow mouth (HP:0000160, a Human Phenotype Ontology term): 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: 2/50. (PMID:38859706;PMID:38991538)
- Hypotonia (HP:0001252, a Human Phenotype Ontology term): 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: 42/48. (PMID:38859706;PMID:38991538;PMID:39369315)
- Ataxia (HP:0001251, a Human Phenotype Ontology term): 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: 1/49. (PMID:38991538)
- Pica (HP:0011856, a Human Phenotype Ontology term): An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month. Evidence: PCS. Frequency: 2/49. (PMID:38991538)
- Aggressive behavior (HP:0000718, a Human Phenotype Ontology term): 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: 3/60. (PMID:38991538;PMID:39369315)
- Motor axonal neuropathy (HP:0007002, a Human Phenotype Ontology term): Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg. Evidence: PCS. Frequency: 3/49. (PMID:38991538)
- Single transverse palmar crease (HP:0000954, a Human Phenotype Ontology term): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. Evidence: PCS. Frequency: 11/61. (PMID:38859706;PMID:38991538;PMID:39369315)
- Macroglossia (HP:0000158, a Human Phenotype Ontology term): Increased length and width of the tongue. Evidence: PCS. Frequency: 5/50. (PMID:38859706;PMID:38991538)
- Retrognathia (HP:0000278, a Human Phenotype Ontology term): An abnormality in which the mandible is mislocalised posteriorly. Evidence: PCS. Frequency: 6/49. (PMID:38991538)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): 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: 48/48. (PMID:38991538;PMID:39369315)
- Hyperorality (HP:0000710, a Human Phenotype Ontology term): Hyperorality is a condition characterized by an excessive preoccupation with oral sensations and behaviors, such as chewing, sucking, biting, swallowing, and excessive mouthing of objects. Evidence: PCS. Frequency: 0/49. (PMID:38991538)
- Simple ear (HP:0020206, a Human Phenotype Ontology term): The pinna has fewer folds and grooves than usual. Evidence: PCS. Frequency: 1/40. (PMID:38991538)
- Facial hypotonia (HP:0000297, a Human Phenotype Ontology term): Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve). Evidence: PCS. Frequency: 9/20. (PMID:38991538;PMID:39369315)
- Spastic diplegia (HP:0001264, a Human Phenotype Ontology term): Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis. Evidence: PCS. Frequency: 2/49. (PMID:38991538)
- Choreoathetosis (HP:0001266, a Human Phenotype Ontology term): Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements). Evidence: PCS. Frequency: 1/49. (PMID:38991538)
- Full cheeks (HP:0000293, a Human Phenotype Ontology term): Increased prominence or roundness of soft tissues between zygomata and mandible. Evidence: PCS. Frequency: 5/50. (PMID:38859706;PMID:38991538)
- Feeding difficulties (HP:0011968, a Human Phenotype Ontology term): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: PCS. Frequency: 23/25. (PMID:38991538;PMID:39369315)
- Global developmental delay (HP:0001263, a Human Phenotype Ontology term): 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: 16/16. (PMID:38991538;PMID:39369315)
- Optic nerve hypoplasia (HP:0000609, a Human Phenotype Ontology term): Underdevelopment of the optic nerve. Evidence: PCS. Frequency: 8/37. (PMID:38991538)
- Thin nail (HP:0001816, a Human Phenotype Ontology term): Nail that appears thin when viewed on end. Evidence: PCS. Frequency: 2/21. (PMID:38859706;PMID:38991538;PMID:39369315)
- Autistic behavior (HP:0000729, a Human Phenotype Ontology term): 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: 18/60. (PMID:38991538;PMID:39369315)
- Compulsive behaviors (HP:0000722, a Human Phenotype Ontology term): Behavior that consists of repetitive acts, characterized by the feeling that one "has to" perform them, while being aware that these acts are not in line with one's overall goal. Evidence: PCS. Frequency: 1/49. (PMID:38991538)
- Hypotelorism (HP:0000601, a Human Phenotype Ontology term): Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes). Evidence: PCS. Frequency: 3/20. (PMID:38991538;PMID:39369315)
- Spasticity (HP:0001257, a Human Phenotype Ontology term): A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. Evidence: PCS. Frequency: 1/10. (PMID:39369315)
- Scaphocephaly (HP:0030799, a Human Phenotype Ontology term): Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis. Evidence: PCS. Frequency: 1/49. (PMID:38991538)
- Small earlobe (HP:0000385, a Human Phenotype Ontology term): Reduced volume of the earlobe. Evidence: PCS. Frequency: 12/60. (PMID:38991538;PMID:39369315)
- Inguinal hernia (HP:0000023, a Human Phenotype Ontology term): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: PCS. Frequency: 2/11. (PMID:39369315)
- Flat face (HP:0012368, a Human Phenotype Ontology term): Absence of concavity or convexity of the face when viewed in profile. Evidence: PCS. Frequency: 1/49. (PMID:38991538)
- Severe intellectual disability (HP:0010864, a Human Phenotype Ontology term): 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: 4/5. (PMID:38991538)
- Osteoporosis (HP:0000939, a Human Phenotype Ontology term): Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). Evidence: PCS. Frequency: 1/3. (PMID:39369315)
- Unsteady gait (HP:0002317, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 6/50. (PMID:38859706;PMID:38991538)
- Low hanging columella (HP:0009765, a Human Phenotype Ontology term): Columella extending inferior to the level of the nasal base, when viewed from the side. Evidence: PCS. Frequency: 3/49. (PMID:38991538)
- Cupped ear (HP:0000378, a Human Phenotype Ontology term): Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura). Evidence: PCS. Frequency: 3/49. (PMID:38991538)
- Overfolded helix (HP:0000396, a Human Phenotype Ontology term): 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: 5/49. (PMID:38991538)
- Wide mouth (HP:0000154, a Human Phenotype Ontology term): 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: 1/49. (PMID:38991538)
- Hippocampal sclerosis (HP:0033715, a Human Phenotype Ontology term): Hippocampal sclerosis is a neuropathologic finding characterized by neuronal loss and gliosis in the CA-1 and subiculum of the hippocampus. Evidence: PCS. Frequency: 0/45. (PMID:38991538)
- Long face (HP:0000276, a Human Phenotype Ontology term): Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective). Evidence: PCS. Frequency: 5/50. (PMID:38859706;PMID:38991538)
- Tented philtrum (HP:0011825, a Human Phenotype Ontology term): Prominence of a triangular soft tissue area of the philtrum with the apex to the columella. Evidence: PCS. Frequency: 21/52. (PMID:38859706;PMID:38991538;PMID:39369315)
- Eye poking (HP:0001483, a Human Phenotype Ontology term): Repetitive pressing, poking, and/or rubbing in the eyes. Evidence: PCS. Frequency: 1/45. (PMID:38991538)
- Narrow palpebral fissure (HP:0045025, a Human Phenotype Ontology term): Reduction in the vertical distance between the upper and lower eyelids. Evidence: PCS. Frequency: 1/49. (PMID:38991538)
- Depressed nasal bridge (HP:0005280, a Human Phenotype Ontology term): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 10/60. (PMID:38991538;PMID:39369315)
- Opacified paranasal sinuses (HP:0034494, a Human Phenotype Ontology term): White appearance (radio-opaqueness) of a paranasal sinus on radiography. Evidence: PCS. Frequency: 2/45. (PMID:38991538)
- Hypothyroidism (HP:0000821, a Human Phenotype Ontology term): Deficiency of thyroid hormone. Evidence: PCS. Frequency: 2/33. (PMID:38991538)
- Hypoplasia of the antihelix (HP:0009739, a Human Phenotype Ontology term): Developmental hypoplasia of the antihelix. Evidence: PCS. Frequency: 1/50. (PMID:38859706;PMID:38991538)
- Astigmatism (HP:0000483, a Human Phenotype Ontology term): A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea. Evidence: PCS. Frequency: 5/11. (PMID:39369315)
- Hearing impairment (HP:0000365, a Human Phenotype Ontology term): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 9/45. (PMID:38991538)
- Inability to walk (HP:0002540, a Human Phenotype Ontology term): Incapability to ambulate. Evidence: PCS. Frequency: 6/37. (PMID:38859706;PMID:38991538)
- Strabismus (HP:0000486, a Human Phenotype Ontology term): 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: 32/56. (PMID:38991538;PMID:39369315)
- Dystonia (HP:0001332, a Human Phenotype Ontology term): An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. Evidence: PCS. Frequency: 1/49. (PMID:38991538)
- Short nose (HP:0003196, a Human Phenotype Ontology term): Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. Evidence: PCS. Frequency: 1/49. (PMID:38991538)
- Thin corpus callosum (HP:0033725, a Human Phenotype Ontology term): 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: 4/4. (PMID:38991538)
- Thick vermilion border (HP:0012471, a Human Phenotype Ontology term): Increased width of the skin of vermilion border region of upper lip. Evidence: PCS. Frequency: 14/21. (PMID:38859706;PMID:38991538;PMID:39369315)
- Cortical dysplasia (HP:0002539, a Human Phenotype Ontology term): The presence of developmental dysplasia of the cerebral cortex. Evidence: PCS. Frequency: 0/45. (PMID:38991538)
- Finger clinodactyly (HP:0040019, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/49. (PMID:38991538)
- Posteriorly rotated ears (HP:0000358, a Human Phenotype Ontology term): A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). Evidence: PCS. Frequency: 1/49. (PMID:38991538)
- Progressive microcephaly (HP:0000253, a Human Phenotype Ontology term): Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms. Evidence: PCS. Frequency: 10/11. (PMID:39369315)
- Downslanted palpebral fissures (HP:0000494, a Human Phenotype Ontology term): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: PCS. Frequency: 1/50. (PMID:38859706;PMID:38991538)
- Microcephaly (HP:0000252, a Human Phenotype Ontology term): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 9/9. (PMID:38991538)
- Absent speech (HP:0001344, a Human Phenotype Ontology term): Complete lack of development of speech and language abilities. Evidence: PCS. Frequency: 49/59. (PMID:38859706;PMID:38991538;PMID:39369315)
- Deeply set eye (HP:0000490, a Human Phenotype Ontology term): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: PCS. Frequency: 3/61. (PMID:38859706;PMID:38991538;PMID:39369315)
- Restricted or repetitive behaviors or interests (HP:0031432, a Human Phenotype Ontology term): A broad range of compulsive behaviors are repeated, including simple motor stereotypies and tics, as well as more complex repetitive movements or compulsions. Evidence: PCS. Frequency: 1/1. (PMID:39369315)
- Claw toe deformity (HP:0034397, a Human Phenotype Ontology term): Claw toes are characterized by hyperextension at the metatarsal-phalangeal joints and flexion of the interphalangeal joints. Evidence: PCS. Frequency: 1/11. (PMID:39369315)
- Chiari malformation (HP:0002308, a Human Phenotype Ontology term): Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow. Evidence: PCS. Frequency: 1/45. (PMID:38991538)
- Lissencephaly (HP:0001339, a Human Phenotype Ontology term): A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. Evidence: PCS. Frequency: 1/45. (PMID:38991538)
- Drooling (HP:0002307, a Human Phenotype Ontology term): Habitual flow of saliva out of the mouth. Evidence: PCS. Frequency: 15/60. (PMID:38991538;PMID:39369315)
- Communicating hydrocephalus (HP:0001334, a Human Phenotype Ontology term): A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space. Evidence: PCS. Frequency: 2/45. (PMID:38991538)
- Brachycephaly (HP:0000248, a Human Phenotype Ontology term): 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: 2/49. (PMID:38991538)
- Low-set ears (HP:0000369, a Human Phenotype Ontology term): 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: 5/20. (PMID:38991538;PMID:39369315)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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:38991538)
- Narrow forehead (HP:0000341, a Human Phenotype Ontology term): 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: 5/60. (PMID:38991538;PMID:39369315)
- Sloping forehead (HP:0000340, a Human Phenotype Ontology term): Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view. Evidence: PCS. Frequency: 2/50. (PMID:38859706;PMID:38991538)
- Upslanted palpebral fissure (HP:0000582, a Human Phenotype Ontology term): 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: 1/41. (PMID:38859706;PMID:38991538)
- Anteverted nares (HP:0000463, a Human Phenotype Ontology term): 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: 4/49. (PMID:38991538)
- Narrow nose (HP:0000460, a Human Phenotype Ontology term): Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae. Evidence: PCS. Frequency: 2/50. (PMID:38859706;PMID:38991538)
- Blepharophimosis (HP:0000581, a Human Phenotype Ontology term): A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. Evidence: PCS. Frequency: 15/52. (PMID:38859706;PMID:38991538;PMID:39369315)
- Brain atrophy (HP:0012444, a Human Phenotype Ontology term): Partial or complete wasting (loss) of brain tissue that was once present. Evidence: PCS. Frequency: 2/2. (PMID:38991538)
- Decreased CSF 5-methyltetrahydrofolate concentration (HP:0012446, a Human Phenotype Ontology term): A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite. Evidence: PCS. Frequency: 2/49. (PMID:38991538)
- Tortuous cerebral arteries (HP:0004938, a Human Phenotype Ontology term): Excessive bending, twisting, and winding of a cerebral artery. Evidence: PCS. Frequency: 2/10. (PMID:39369315)
- Thin upper lip vermilion (HP:0000219, a Human Phenotype Ontology term): 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: 1/50. (PMID:38859706;PMID:38991538)
- Bipolar affective disorder (HP:0007302, a Human Phenotype Ontology term): Bipolar disorder is an illness of mood characterized by alternating episodes of elevated and depressed moods, which are interspersed with euthymic periods. Evidence: PCS. Frequency: 1/49. (PMID:38991538)
- High palate (HP:0000218, a Human Phenotype Ontology term): 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: 10/20. (PMID:38991538;PMID:39369315)
- Broad nasal tip (HP:0000455, a Human Phenotype Ontology term): Increase in width of the nasal tip. Evidence: PCS. Frequency: 7/61. (PMID:38859706;PMID:38991538;PMID:39369315)
- Bifid nasal tip (HP:0000456, a Human Phenotype Ontology term): A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip. Evidence: PCS. Frequency: 1/20. (PMID:38991538;PMID:39369315)
- Long neck (HP:0000472, a Human Phenotype Ontology term): Increased inferior-superior length of the neck. Evidence: PCS. Frequency: 1/49. (PMID:38991538)
- Scoliosis (HP:0002650, a Human Phenotype Ontology term): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 5/11. (PMID:39369315)
- Everted lower lip vermilion (HP:0000232, a Human Phenotype Ontology term): 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: 0/49. (PMID:38991538)
- Thickened nuchal skin fold (HP:0000474, a Human Phenotype Ontology term): A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome. Evidence: PCS. Frequency: 1/11. (PMID:39369315)
- Prominent metopic ridge (HP:0005487, a Human Phenotype Ontology term): Vertical bony ridge positioned in the midline of the forehead. Evidence: PCS. Frequency: 1/50. (PMID:38859706;PMID:38991538)
- Blue sclerae (HP:0000592, a Human Phenotype Ontology term): An abnormal bluish coloration of the sclera. Evidence: PCS. Frequency: 9/61. (PMID:38859706;PMID:38991538;PMID:39369315)
- Secondary microcephaly (HP:0005484, a Human Phenotype Ontology term): Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth. Evidence: PCS. Frequency: 8/39. (PMID:38991538)
- Inverted nipples (HP:0003186, a Human Phenotype Ontology term): The presence of nipples that instead of pointing outward are retracted inwards. Evidence: PCS. Frequency: 1/50. (PMID:38859706;PMID:38991538)
- Short neck (HP:0000470, a Human Phenotype Ontology term): Diminished length of the neck. Evidence: PCS. Frequency: 1/49. (PMID:38991538)
- Coarctation of aorta (HP:0001680, a Human Phenotype Ontology term): Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. Evidence: PCS. Frequency: 1/11. (PMID:39369315)
- Severe global developmental delay (HP:0011344, a Human Phenotype Ontology term): A severe delay in the achievement of motor or mental milestones in the domains of development of a child. Evidence: PCS. Frequency: 35/45. (PMID:38859706;PMID:38991538)
- Horizontal eyebrow (HP:0011228, a Human Phenotype Ontology term): An eyebrow that extends straight across the brow, without curve. Evidence: PCS. Frequency: 1/20. (PMID:38991538;PMID:39369315)
- Pineal cyst (HP:0012683, a Human Phenotype Ontology term): A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland. Evidence: PCS. Frequency: 2/45. (PMID:38991538)
- Reduced cerebral white matter volume (HP:0034295, a Human Phenotype Ontology term): An abnormally low volume of the white matter of the brain. Evidence: PCS. Frequency: 4/45. (PMID:38991538)
- Ectropion of lower eyelids (HP:0007651, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 8/50. (PMID:38859706;PMID:38991538)
- High forehead (HP:0000348, a Human Phenotype Ontology term): An abnormally increased height of the forehead. Evidence: PCS. Frequency: 5/61. (PMID:38859706;PMID:38991538;PMID:39369315)
- Falls (HP:0002527, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 0/49. (PMID:38991538)
- Eversion of lateral third of lower eyelids (HP:0007655, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/49. (PMID:38991538)
- Asymmetry of the thorax (HP:0001555, a Human Phenotype Ontology term): Lack of symmetry between the left and right halves of the thorax. Evidence: PCS. Frequency: 2/11. (PMID:39369315)
- Micrognathia (HP:0000347, a Human Phenotype Ontology term): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 3/50. (PMID:38859706;PMID:38991538)
- Tented upper lip vermilion (HP:0010804, a Human Phenotype Ontology term): 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: 11/20. (PMID:38991538;PMID:39369315)
- Delayed CNS myelination (HP:0002188, a Human Phenotype Ontology term): Delayed myelination in the central nervous system. Evidence: PCS. Frequency: 4/57. (PMID:38859706;PMID:38991538;PMID:39369315)
- Protruding tongue (HP:0010808, a Human Phenotype Ontology term): Tongue extending beyond the alveolar ridges or teeth at rest. Evidence: PCS. Frequency: 3/50. (PMID:38859706;PMID:38991538)
- U-Shaped upper lip vermilion (HP:0010806, a Human Phenotype Ontology term): Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures. Evidence: PCS. Frequency: 1/49. (PMID:38991538)
- Aplasia/Hypoplasia of the cerebral white matter (HP:0012429, a Human Phenotype Ontology term): Absence or underdevelopment of the cerebral white matter. Evidence: PCS. Frequency: 5/10. (PMID:39369315)
- Abnormally large globe (HP:0001090, a Human Phenotype Ontology term): Diffusely large eye (with megalocornea) without glaucoma. Evidence: PCS. Frequency: 3/50. (PMID:38859706;PMID:38991538)
- Moderate global developmental delay (HP:0011343, a Human Phenotype Ontology term): A moderate delay in the achievement of motor or mental milestones in the domains of development of a child. Evidence: PCS. Frequency: 10/45. (PMID:38859706;PMID:38991538)
- Mild global developmental delay (HP:0011342, a Human Phenotype Ontology term): A mild delay in the achievement of motor or mental milestones in the domains of development of a child. Evidence: PCS. Frequency: 0/45. (PMID:38859706;PMID:38991538)
- Smooth philtrum (HP:0000319, a Human Phenotype Ontology term): 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: 2/50. (PMID:38859706;PMID:38991538)
- Fetal onset (HP:0011461, a Human Phenotype Ontology term): Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). Evidence: PCS. Frequency: 1/1. (PMID:38859706)
- Hypertelorism (HP:0000316, a Human Phenotype Ontology term): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Frequency: 1/49. (PMID:38991538)
- Pes planus (HP:0001763, a Human Phenotype Ontology term): 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: 1/11. (PMID:39369315)
- Flat occiput (HP:0005469, a Human Phenotype Ontology term): Reduced convexity of the occiput (posterior part of skull). Evidence: PCS. Frequency: 1/50. (PMID:38859706;PMID:38991538)
- Tooth malposition (HP:0000692, a Human Phenotype Ontology term): Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth. Evidence: PCS. Frequency: 2/41. (PMID:38859706;PMID:38991538)
- Hypoplasia of the corpus callosum (HP:0002079, a Human Phenotype Ontology term): Underdevelopment of the corpus callosum. Evidence: PCS. Frequency: 9/55. (PMID:38991538;PMID:39369315)
- Short chin (HP:0000331, a Human Phenotype Ontology term): Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin. Evidence: PCS. Frequency: 2/49. (PMID:38991538)
- Central apnea (HP:0002871, a Human Phenotype Ontology term): Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow. Evidence: PCS. Frequency: 1/1. (PMID:38859706)
- Delayed gross motor development (HP:0002194, a Human Phenotype Ontology term): A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling. Evidence: PCS. Frequency: 0/1. (PMID:38991538)
- Hooded upper eyelid (HP:0030822, a Human Phenotype Ontology term): Upper eyelid partly covered by skin when eyes are open. Evidence: PCS. Frequency: 0/40. (PMID:38991538)
- Sensory seeking (HP:4000079, a Human Phenotype Ontology term): Unusual interest in sensory aspects of the environment. Evidence: PCS. Frequency: 1/1. (PMID:38991538)
- Primary microcephaly (HP:0011451, a Human Phenotype Ontology term): Head circumference below 2 standard deviations below the mean for age and gender at birth. Evidence: PCS. Frequency: 20/39. (PMID:38991538)
- Umbilical hernia (HP:0001537, a Human Phenotype Ontology term): Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. Evidence: PCS. Frequency: 2/11. (PMID:39369315)
- Almond-shaped palpebral fissure (HP:0007874, a Human Phenotype Ontology term): 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: 4/50. (PMID:38859706;PMID:38991538)
- Short philtrum (HP:0000322, a Human Phenotype Ontology term): 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: 4/49. (PMID:38991538)
- Triangular face (HP:0000325, a Human Phenotype Ontology term): Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. Evidence: PCS. Frequency: 8/51. (PMID:38991538;PMID:39369315)
- Abnormal cerebral white matter morphology (HP:0002500, a Human Phenotype Ontology term): An abnormality of the cerebral white matter. Evidence: PCS. Frequency: 1/1. (PMID:38991538)
- Facial asymmetry (HP:0000324, a Human Phenotype Ontology term): An abnormal difference between the left and right sides of the face. Evidence: PCS. Frequency: 1/49. (PMID:38991538)
- Clonus (HP:0002169, a Human Phenotype Ontology term): A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch. Evidence: PCS. Frequency: 3/49. (PMID:38991538)
- Hypermetropia (HP:0000540, a Human Phenotype Ontology term): An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. Evidence: PCS. Frequency: 3/11. (PMID:39369315)
- Global brain atrophy (HP:0002283, a Human Phenotype Ontology term): Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size. Evidence: PCS. Frequency: 1/56. (PMID:38991538;PMID:39369315)
- Gray matter heterotopia (HP:0002282, a Human Phenotype Ontology term): Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter. Evidence: PCS. Frequency: 1/1. (PMID:38991538)
- Hippocampal atrophy (HP:0410170, a Human Phenotype Ontology term): Partial or complete wasting (loss) of hippocampus tissue that was once present. Evidence: PCS. Frequency: 3/45. (PMID:38991538)
- Enlarged cisterna magna (HP:0002280, a Human Phenotype Ontology term): 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: 9/46. (PMID:38859706;PMID:38991538)
- Anteverted ears (HP:0040080, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/49. (PMID:38991538)
- Pain (HP:0012531, a Human Phenotype Ontology term): An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. Evidence: PCS. Frequency: 1/49. (PMID:38991538)
- Failure to thrive (HP:0001508, a Human Phenotype Ontology term): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 37/54. (PMID:38991538;PMID:39369315)
- Ventricular septal defect (HP:0001629, a Human Phenotype Ontology term): 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: 1/11. (PMID:39369315)
- Bulbous nose (HP:0000414, a Human Phenotype Ontology term): Increased volume and globular shape of the anteroinferior aspect of the nose. Evidence: PCS. Frequency: 2/50. (PMID:38859706;PMID:38991538)
- Recurrent bronchitis (HP:0002837, a Human Phenotype Ontology term): An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis. Evidence: PCS. Frequency: 4/11. (PMID:39369315)
- Downturned corners of mouth (HP:0002714, a Human Phenotype Ontology term): A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure. Evidence: PCS. Frequency: 2/50. (PMID:38859706;PMID:38991538)
- Recurrent pneumonia (HP:0006532, a Human Phenotype Ontology term): An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Evidence: PCS. Frequency: 4/11. (PMID:39369315)
- Protruding ear (HP:0000411, a Human Phenotype Ontology term): 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: 1/50. (PMID:38859706;PMID:38991538)
- Cerebral atrophy (HP:0002059, a Human Phenotype Ontology term): Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. Evidence: PCS. Frequency: 1/1. (PMID:38991538)
- Wide nasal bridge (HP:0000431, a Human Phenotype Ontology term): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: PCS. Frequency: 1/50. (PMID:38859706;PMID:38991538)
- Delayed ability to walk (HP:0031936, a Human Phenotype Ontology term): 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: 46/47. (PMID:38859706;PMID:38991538)
- Underdeveloped nasal alae (HP:0000430, a Human Phenotype Ontology term): Thinned, deficient, or excessively arched ala nasi. Evidence: PCS. Frequency: 1/49. (PMID:38991538)
- Colpocephaly (HP:0030048, a Human Phenotype Ontology term): Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles. Evidence: PCS. Frequency: 2/10. (PMID:39369315)
- Social anxiety (HP:6000029, a Human Phenotype Ontology term): Excessive fear of embarrassment, humiliation, or rejection when exposed to possible negative evaluation by others when engaged in a public performance or social interaction. Evidence: PCS. Frequency: 2/49. (PMID:38991538)
- Frontal balding (HP:0002292, a Human Phenotype Ontology term): Absence of hair in the anterior midline and/or parietal areas. Evidence: PCS. Frequency: 1/49. (PMID:38991538)
- Gliosis (HP:0002171, a Human Phenotype Ontology term): Gliosis is the focal proliferation of glial cells in the central nervous system. Evidence: PCS. Frequency: 12/12. (PMID:38859706;PMID:38991538)
- Prominent nasal bridge (HP:0000426, a Human Phenotype Ontology term): Anterior positioning of the nasal root in comparison to the usual positioning for age. Evidence: PCS. Frequency: 2/50. (PMID:38859706;PMID:38991538)
- Intrauterine growth retardation (HP:0001511, a Human Phenotype Ontology term): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: PCS. Frequency: 17/44. (PMID:38991538)
- Myopia (HP:0000545, a Human Phenotype Ontology term): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: PCS. Frequency: 2/11. (PMID:39369315)
These phenotypes are associated with the disease neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language (OMIM:620851, an entry in Online Mendelian Inheritance in Man).