Conditions / Nervous system
pontocerebellar hypoplasia type 9
info · Nervous system · ICD-10: Q04.3
A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has_material_basis_in autosomal recessive inheritance of mutation in the AMPD2 gene.
Signs and symptoms
- Hypoplasia of the pons
- Irritability
- Intellectual disability
- Hyperreflexia
- Hypoplasia of the corpus callosum
- Cerebellar hypoplasia
- Global developmental delay
- Secondary microcephaly
- Delayed early-childhood social milestone development
- Spasticity