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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618774
http://purl.bioontology.org/ontology/OMIM/618774
|
|---|---|
| Preferred Name | CEBALID SYNDROME |
| Synonyms |
MCTT
MN1 C-TERMINAL TRUNCATION SYNDROME
CRANIOFACIAL DEFECTS, DYSMORPHIC EARS, STRUCTURAL BRAIN ABNORMALITIES, EXPRESSIVE LANGUAGE DELAY, AND IMPAIRED INTELLECTUAL DEVELOPMENT
CEBALID
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | MCTT
MN1 C-TERMINAL TRUNCATION SYNDROME
CRANIOFACIAL DEFECTS, DYSMORPHIC EARS, STRUCTURAL BRAIN ABNORMALITIES, EXPRESSIVE LANGUAGE DELAY, AND IMPAIRED INTELLECTUAL DEVELOPMENT
CEBALID
|
|---|---|
| prefLabel | CEBALID SYNDROME
|
| Gene Symbol |
CEBALID
MGCR
MN1
|
| Scope Statement | Caused by mutation in the MN1 protooncogene, transcriptional regulator gene (MN1, 156100.0001) [MOLECULAR BASIS]
Variable phenotype and severity [MISCELLANEOUS]
Some patients may attend special schools whereas others have severe intellectual impairment and are non-verbal [MISCELLANEOUS]
De novo mutation (in most patients) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 22q12.3-qter
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 618774
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5394044
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| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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