The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Abnormality of neuronal migration | 90% |
| Aplasia/Hypoplasia affecting the eye | 90% |
| Aplasia/Hypoplasia of the cerebellum | 90% |
| Aplasia/Hypoplasia of the skin | 90% |
| Cognitive impairment | 90% |
| Preauricular skin tag | 90% |
| Seizures | 90% |
| Abnormality of the ribs | 50% |
| Alopecia | 50% |
| Aplasia/Hypoplasia of the corpus callosum | 50% |
| Cleft eyelid | 50% |
| Cryptorchidism | 50% |
| Hemiplegia/hemiparesis | 50% |
| Hydrocephalus | 50% |
| Hypopigmented skin patches | 50% |
| Skull defect | 50% |
| Abnormality of the fingernails | 7.5% |
| Abnormality of the hip bone | 7.5% |
| Aplasia/Hypoplasia of the distal phalanges of the toes | 7.5% |
| Congenital diaphragmatic hernia | 7.5% |
| Dandy-Walker malformation | 7.5% |
| Exostoses | 7.5% |
| External ear malformation | 7.5% |
| Facial cleft | 7.5% |
| Finger syndactyly | 7.5% |
| Hand polydactyly | 7.5% |
| Hearing impairment | 7.5% |
| Hypertelorism | 7.5% |
| Iris coloboma | 7.5% |
| Neurological speech impairment | 7.5% |
| Nystagmus | 7.5% |
| Opacification of the corneal stroma | 7.5% |
| Oral cleft | 7.5% |
| Short distal phalanx of finger | 7.5% |
| Talipes | 7.5% |
| Wide mouth | 7.5% |
| Abnormality of the thorax | - |
| Agenesis of corpus callosum | - |
| Anophthalmia | - |
| Cleft ala nasi | - |
| Congenital hip dislocation | - |
| Facial asymmetry | - |
| Focal dermal aplasia/hypoplasia | - |
| Heterotopia | - |
| Hypoplasia of the corpus callosum | - |
| Intellectual disability | - |
| Microphthalmia | - |
| Orbital cyst | - |
| Orbital encephalocele | - |
| Sporadic | - |
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
