WormBase Tree Display for DO_term: DOID:0060265
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| DOID:0060265 | Name | pontocerebellar hypoplasia type 1A | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A pontocerebellar hypoplasia that is characterized by central and peripheral motor dysfunction, hypotonia, spasticity and failure to thrive, has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene. | ||||
| Comment | NT MGI. | ||||
| Parent | Is_a | DOID:0050737 | |||
| DOID:0112322 | |||||
| DB_info | Database | OMIM | disease | 607596 | |
| Attribute_of | Gene_by_orthology | WBGene00017895 |
