| Metadata | |
|---|---|
| ID | DOID:0112322 |
| Name | pontocerebellar hypoplasia type 1 |
| Definition | A pontocerebellar hypoplasia characterized by spinal cord anterior horn cell degeneration combined with pontocerebellar hypoplasia. https://medlineplus.gov/genetics/condition/pontocerebellar-hypoplasia/, https://pubmed.ncbi.nlm.nih.gov/21749694/, https://pubmed.ncbi.nlm.nih.gov/29656927/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Norman disease [EXACT] PCH1 [EXACT] pontocerebellar hypoplasia with anterior horn cell disease [EXACT] pontocerebellar hypoplasia with infantile spinal muscular atrophy [EXACT] |
| Parent Relationships |