Phenotypes associated with the disease CEBALID syndrome (OMIM:618774, an entry in Online Mendelian Inheritance in Man):
- 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. (PMID:31834374)
- Hearing impairment (HP:0000365, a Human Phenotype Ontology term): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 16/20. (PMID:31834374)
- 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. (PMID:31834374)
- 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: 24/25. (PMID:31839203;PMID:31834374)
- Abnormal speech pattern (HP:0002167, a Human Phenotype Ontology term): An abnormality in the sound (volume) or cadence (rate) of speech. Evidence: PCS. Frequency: 3/3. (PMID:31839203)
- 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: 6/21. (PMID:31834374)
- Turricephaly (HP:0000262, a Human Phenotype Ontology term): Tall head relative to width and length. Evidence: PCS. (PMID:31834374)
- 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: 3/3. (PMID:31839203)
- Generalized hypotonia (HP:0001290, a Human Phenotype Ontology term): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: PCS. Frequency: 19/21. (PMID:31839203;PMID:31834374)
- 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: 19/20. (PMID:31834374)
- Flat face (HP:0012368, a Human Phenotype Ontology term): Absence of concavity or convexity of the face when viewed in profile. Evidence: PCS. Frequency: 3/3. (PMID:31839203)
- 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. (PMID:31834374)
- Platystencephaly (HP:0033011, a Human Phenotype Ontology term): Extreme width of the skull in the occipital region, with anterior narrowing and prognathism. Evidence: PCS. Frequency: 1/3. (PMID:31839203)
- Prominent forehead (HP:0011220, a Human Phenotype Ontology term): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: PCS. Frequency: 2/3. (PMID:31839203)
- 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: 22/24. (PMID:31839203;PMID:31834374)
- 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: 15/21. (PMID:31834374)
- Abnormal pinna morphology (HP:0000377, a Human Phenotype Ontology term): An abnormality of the pinna, which is also referred to as the auricle or external ear. Evidence: PCS. Frequency: 22/22. (PMID:31834374)
- Duane anomaly (HP:0009921, a Human Phenotype Ontology term): A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction. Evidence: PCS. (PMID:31834374)
- 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: 16/17. (PMID:31834374)
- Congenital diaphragmatic hernia (HP:0000776, a Human Phenotype Ontology term): The presence of a hernia of the diaphragm present at birth. Evidence: PCS. Frequency: 2/21. (PMID:31834374)
- 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: 2/3. (PMID:31839203)
- Depressed nasal ridge (HP:0000457, a Human Phenotype Ontology term): Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge. Evidence: PCS. Frequency: 2/3. (PMID:31839203)
- Highly arched eyebrow (HP:0002553, a Human Phenotype Ontology term): Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape. Evidence: PCS. Frequency: 2/3. (PMID:31839203)
- 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: 15/21. (PMID:31834374)
- 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: 18/20. (PMID:31834374)
- Thick eyebrow (HP:0000574, a Human Phenotype Ontology term): Increased density/number and/or increased diameter of eyebrow hairs. Evidence: PCS. Frequency: 3/3. (PMID:31839203)
- 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: 14/21. (PMID:31839203;PMID:31834374)
- Polyphagia (HP:0002591, a Human Phenotype Ontology term): A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat. Evidence: PCS. Frequency: 3/3. Onset: Infantile onset (HP:0003593, a Human Phenotype Ontology term). (PMID:31839203)
- Midface retrusion (HP:0011800, a Human Phenotype Ontology term): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: PCS. Frequency: 21/22. (PMID:31834374)
- 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: IEA. Frequency: 3/3. Onset: Infantile onset (HP:0003593, a Human Phenotype Ontology term). (PMID:31839203)
- 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: 2/3. (PMID:31839203)
- Plagiocephaly (HP:0001357, a Human Phenotype Ontology term): Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape. Evidence: PCS. (PMID:31834374)
- Dolichocephaly (HP:0000268, a Human Phenotype Ontology term): 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: 12/13. (PMID:31839203;PMID:31834374)
- 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:31834374)
- 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. (PMID:31834374)
- 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: 3/3. (PMID:31839203)
- Polymicrogyria (HP:0002126, a Human Phenotype Ontology term): Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds). Evidence: PCS. Frequency: 2/3. (PMID:31839203)