Term Name: | pontocerebellar hypoplasia type 9 |
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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. |
Ontology: | Human Disease [DOID:0060278] ( DOID:0060278 ) |