pontocerebellar hypoplasia type 3
Information
- Disease name
- pontocerebellar hypoplasia type 3
- Disease ID
- DOID:0060272
- Description
- "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the PCLO gene." [url:https\://www.omim.org/entry/608027]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0060264
- Cross Reference ID (Disease Ontology)
- GARD:10708
- Cross Reference ID (Disease Ontology)
- MESH:C548072
- Cross Reference ID (Disease Ontology)
- MIM:608027
- Cross Reference ID (Disease Ontology)
- ORDO:97249
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:718609003
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1842687
- OrphaNumber from OrphaNet (Orphanet)
- 97249