Conditions / Syndrome
microcephaly and chorioretinopathy 2
info · Syndrome
A syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has_material_basis_in homozygous mutation in the PLK4 gene.
Signs and symptoms
- Short stature
- Intellectual disability
- Microcephaly
- Absent speech
- Sloping forehead
- Cerebellar atrophy
- Cerebral atrophy
- Global developmental delay
- Microphthalmia
- Visual impairment