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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616081
http://purl.bioontology.org/ontology/OMIM/616081
|
|---|---|
| Preferred Name | PONTOCEREBELLAR HYPOPLASIA, TYPE 1C |
| Synonyms |
HYPOMYELINATION WITH SPINAL MUSCULAR ATROPHY AND CEREBELLAR HYPOPLASIA
PCH1C
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
HYPOMYELINATION WITH SPINAL MUSCULAR ATROPHY AND CEREBELLAR HYPOPLASIA
PCH1C
|
|---|---|
| prefLabel | PONTOCEREBELLAR HYPOPLASIA, TYPE 1C
|
| Gene Symbol |
OIP2
RRP43
PCH1C
EXOSC8
|
| Scope Statement | Three families have been reported (last curated November 2014) [MISCELLANEOUS]
Usually fatal in infancy [MISCELLANEOUS]
Caused by mutation in the exosome component 8 gene (EXOSC8, 606019.0001) [MOLECULAR BASIS]
Onset in first months of life [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 13q13.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 616081
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4015160
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |