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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619090
http://purl.bioontology.org/ontology/OMIM/619090
|
|---|---|
| Preferred Name | DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY |
| Synonyms |
DIGFAN
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | DIGFAN
|
|---|---|
| prefLabel | DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY
|
| Gene Symbol |
DIGFAN
ZCWCC1
ZCW3
KIAA0852
MORC2
CMT2Z
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|
| Scope Statement | De novo mutation (in most cases) [MISCELLANEOUS]
Caused by mutation in the MORC family CW-type zinc finger protein 2 gene (MORC2, 616661.0002) [MOLECULAR BASIS]
Onset in infancy [MISCELLANEOUS]
Highly variable phenotype and severity [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 22q12.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 619090
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5436781
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |