Conditions / Nervous system
pontocerebellar hypoplasia type 7
info · Nervous system · ICD-10: Q04.3
A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has_material_basis_in autosomal recessive mutation in the TOE1 gene.
Signs and symptoms
- Hypoplasia of the pons
- Muscle weakness
- Intellectual disability
- Skeletal muscle atrophy
- Feeding difficulties
- Global developmental delay
- Hypoplasia of the brainstem
- Progressive microcephaly
- Ambiguous genitalia
- Hyperreflexia