Conditions / Syndrome
agenesis of corpus callosum, cardiac, ocular, and genital syndrome
info · Syndrome
A syndrome that is characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies and that has_material_basis_in heterozygous mutation in
A syndrome that is characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12.
Signs and symptoms
- Agenesis of corpus callosum
- Global developmental delay
- Cryptorchidism
- Interhypothalamic adhesion
- Thin upper lip vermilion
- Intellectual disability
- Macrocephaly
- Prominent forehead
- Periventricular heterotopia
- Posteriorly rotated ears