Agenesis of the corpus callosum, X-linked, partial
A syndrome characterized by partial corpus callosum agenesis, hypoplasia of inferior vermis and cerebellum, mental retardation, seizures and spasticity. Other features include microcephaly, unusual facies, and Hirschsprung disease in some patients.
| Name | Development Level | Target Family |
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| Name | Description |
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TCRDv4.6.9
UniProt Disease
UniProt Disease