Search Ontology:
Human Disease
pontocerebellar hypoplasia type 9
- Term ID
- DOID:0060278
- Synonyms
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- Definition
- 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. https://pubmed.ncbi.nlm.nih.gov/23911318/
- References
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- ICD10CM:Q04.3
- MIM:615809
- ORDO:369920
- Ontology
- Human Disease ( DOID:0060278 )
- is a type of
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