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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619255
http://purl.bioontology.org/ontology/OMIM/619255
|
|---|---|
| Preferred Name | BARALLE-MACKEN SYNDROME |
| Synonyms |
BARMACS
NEURODEVELOPMENTAL DISORDER WITH CATARACTS AND VARIABLE MICROCEPHALY
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
BARMACS
NEURODEVELOPMENTAL DISORDER WITH CATARACTS AND VARIABLE MICROCEPHALY
|
|---|---|
| prefLabel | BARALLE-MACKEN SYNDROME
|
| Gene Symbol |
BARMACS
COPB
COPB1
|
| Scope Statement | Onset in infancy [MISCELLANEOUS]
Variable extraneurologic features [MISCELLANEOUS]
Caused by mutation in the coatomer protein complex, subunit beta 1 gene (COPB1, 600959.0001) [MOLECULAR BASIS]
Six girls from 2 unrelated consanguineous families have been reported (last curated March 2021) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 11p15.2
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 619255
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5543241
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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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| No notes to display |