Conditions / Nervous system
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
info · Nervous system
A brain disease characterized by cerebral and cerebellar atrophy, postnatal progressive microcephaly and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in MED17 on 11q21.
Signs and symptoms
- Hypertonia
- Clonus
- Dysphagia
- Hypsarrhythmia
- Delayed CNS myelination
- Hypoplasia of the brainstem
- Feeding difficulties
- Seizure
- Global developmental delay
- Secondary microcephaly
Also known as: postnatal progressive microcephaly, seizures, and brain atrophy