OBO ID: DOID:0060278
Term Name: pontocerebellar hypoplasia type 9 Search Ontology:
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://www.omim.org/entry/615809
References:
Ontology: Human Disease   ( DOID:0060278 )
OTHER pontocerebellar hypoplasia type 9 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AMPD2 Pontocerebellar hypoplasia, type 9 615809
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None