WormBase Tree Display for DO_term: DOID:0060278
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| DOID:0060278 | Name | pontocerebellar hypoplasia type 9 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Comment | NT MGI. | ||||
| Parent | Is_a | DOID:0060264 | |||
| DB_info | Database | OMIM | disease | 615809 | |
| Attribute_of | Gene_by_orthology | WBGene00016415 |
