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%|
|Preauricular skin tag||90%|
|Abnormality of the ribs||50%|
|Aplasia/Hypoplasia of the corpus callosum||50%|
|Calvarial skull defect||50%|
|Hypopigmented skin patches||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%|
|External ear malformation||7.5%|
|Neurological speech impairment||7.5%|
|Opacification of the corneal stroma||7.5%|
|Short distal phalanx of finger||7.5%|
|Abnormality of the thorax||-|
|Agenesis of corpus callosum||-|
|Cleft ala nasi||-|
|Congenital hip dislocation||-|
|Focal dermal aplasia/hypoplasia||-|
|Hypoplasia of the corpus callosum||-|
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.
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