Conditions / Syndrome
microcephaly and chorioretinopathy 3
info · Syndrome
A syndrome that is characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus and has_material_basis_in compound heterozygous mutation in the TUBGCP4 gene.
Signs and symptoms
- Microcephaly
- Nystagmus
- Global developmental delay
- Microphthalmia
- Reduced visual acuity
- Visual impairment
- Chorioretinal dysplasia
- Abnormal facial shape