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DOID:0060278 - pontocerebellar hypoplasia type 9
Disease Ontology 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.
Synonyms:
Xenbase Genes
![Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries](img/icons/info1.png)
MONDO:0014351 - pontocerebellar hypoplasia type 9 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
pontocerebellar hypoplasia (is_a)