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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/310490
http://purl.bioontology.org/ontology/OMIM/310490
|
|---|---|
| Preferred Name | CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA |
| Synonyms |
COWCHOCK SYNDROME
CHARCOT-MARIE-TOOTH DISEASE WITH DEAFNESS AND MENTAL RETARDATION
NADMR
NEUROPATHY, AXONAL MOTOR-SENSORY, WITH DEAFNESS AND MENTAL RETARDATION
COWCK
CMTX4
NAMSD
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
COWCHOCK SYNDROME
CHARCOT-MARIE-TOOTH DISEASE WITH DEAFNESS AND MENTAL RETARDATION
NADMR
NEUROPATHY, AXONAL MOTOR-SENSORY, WITH DEAFNESS AND MENTAL RETARDATION
COWCK
CMTX4
NAMSD
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|
|---|---|
| prefLabel | CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA
|
| Gene Symbol |
AIF
PDCD8
COWCK
DFNX5
AIFM1
SEMDHL
CMTX4
COXPD6
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| Scope Statement | Caused by mutation in the apoptosis-inducing factor, mitochondrion-associated, 1 gene (AIFM1, 300169.0002) [MOLECULAR BASIS]
Slowly progressive [MISCELLANEOUS]
Hearing loss is often presenting feature [MISCELLANEOUS]
Variable age at onset (range infancy to young adult) [MISCELLANEOUS]
Highly variable features and severity [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | Xq26.1
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 310490
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0795910
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |