Conditions / Syndrome
cerebellar atrophy, visual impairment, and psychomotor retardation
info · Syndrome
A syndrome that is characterized by cerebellar atrophy, visual impairment and psychomotor retardation and that has_material_basis_in homozygous mutation in the EMC1 gene on chromosome 1p36.
Signs and symptoms
- Cerebellar atrophy
- Delayed speech and language development
- Global developmental delay
- Corpus callosum atrophy
- Axial hypotonia
- Brain atrophy
- Hyporeflexia
- Scoliosis
- Deeply set eye
- Gingival overgrowth
Also known as: CAVIPMR