Conditions / Syndrome
microcephaly and chorioretinopathy 1
info · Syndrome
A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP6 gene.
Signs and symptoms
- Abnormal retinal pigmentation
- Microcephaly
- Abnormal skin pigmentation
- Sloping forehead
- Cerebral atrophy
- Retinal detachment
- Short stature
- Cerebellar hypoplasia
- Global developmental delay
- Retinal fold