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pontocerebellar hypoplasia type 7
Summary
- Definition
- A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has_material_basis_in autosomal recessive mutation in the TOE1 gene.
- Super Class
- pontocerebellar hypoplasia
External Links
- Disease Ontology
- DOID:0060276
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 79147 | FKRP | fukutin related protein | |
| 84197 | POMK | protein O-mannose kinase | |
| 84892 | POMGNT2 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | |
| 148789 | B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 | |
| 160418 | TMTC3 | transmembrane O-mannosyltransferase targeting cadherins 3 | |
| 729920 | CRPPA | CDP-L-ribitol pyrophosphorylase A |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y487 | V-type proton ATPase 116 kDa subunit a 2 | |
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000215 | Thick upper lip vermilion |
| HP:0004305 | Involuntary movements |
| HP:0000639 | Nystagmus |
| HP:0012856 | Abnormal scrotal rugation |
| HP:0001252 | Hypotonia |
| HP:0000347 | Micrognathia |
| HP:0002365 | Hypoplasia of the brainstem |
| HP:0000028 | Cryptorchidism |
| HP:0001257 | Spasticity |
| HP:0000062 | Ambiguous genitalia |
