Search Ontology:
Human Disease

pontocerebellar hypoplasia type 9

Term ID
DOID:0060278
Synonyms
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
Ontology
Human Disease   ( DOID:0060278 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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