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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/621034
http://purl.bioontology.org/ontology/OMIM/621034
|
|---|---|
| Preferred Name | NEURODEVELOPMENTAL DISORDER WITH SPEECH OR VISUAL IMPAIRMENT AND BRAIN HYPOMYELINATION |
| Synonyms |
NEDSVH
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | NEDSVH
|
|---|---|
| prefLabel | NEURODEVELOPMENTAL DISORDER WITH SPEECH OR VISUAL IMPAIRMENT AND BRAIN HYPOMYELINATION
|
| Gene Symbol |
CCT3
NEDSVH
TRIC5
|
| Scope Statement | Four unrelated patients have been reported (last curated December 2024) [MISCELLANEOUS]
Caused by mutation in the chaperonin containing T-complex polypeptide 1, subunit 3 gene (CCT3, 600114.0001) [MOLECULAR BASIS]
Onset at birth or in early infancy [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 1q23
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 621034
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5975545
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |