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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618383
http://purl.bioontology.org/ontology/OMIM/618383
|
|---|---|
| Preferred Name | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES, COGNITIVE DECLINE, AND BRAIN ABNORMALITIES |
| Synonyms |
NEDMCB
MRT69
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 69
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
NEDMCB
MRT69
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 69
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69
|
|---|---|
| prefLabel | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES, COGNITIVE DECLINE, AND BRAIN ABNORMALITIES
|
| Gene Symbol |
ZBTB11
MRT69
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| Scope Statement | Onset in infancy or first year of life [MISCELLANEOUS]
Caused by mutation in the zinc finger- and BTB domain-containing protein 11 gene (ZBTB11, 618181.0001) [MOLECULAR BASIS]
Progressive disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 3q12.3
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 618383
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5193067
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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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