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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/614399
http://purl.bioontology.org/ontology/OMIM/614399
|
|---|---|
| Preferred Name | CONGENITAL MYOPATHY 10A, SEVERE VARIANT |
| Synonyms |
EMARDD
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET
CMYO10A
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
EMARDD
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET
CMYO10A
|
|---|---|
| prefLabel | CONGENITAL MYOPATHY 10A, SEVERE VARIANT
|
| Gene Symbol |
MEGF10
CMYO10B
KIAA1780
CMYO10A
|
| Scope Statement | Patients present at birth with respiratory distress or poor head control [MISCELLANEOUS]
Onset at birth [MISCELLANEOUS]
Death may occur in childhood due to respiratory failure [MISCELLANEOUS]
Caused by mutation in the multiple epidermal growth factor-like domains 10 gene (MEGF10, 612453.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 5q23.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 614399
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3280679
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |