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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/614673
http://purl.bioontology.org/ontology/OMIM/614673
|
|---|---|
| Preferred Name | MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE |
| Synonyms |
MCPH8
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | MCPH8
|
|---|---|
| prefLabel | MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE
|
| Gene Symbol |
CEP135
MCPH8
KIAA0635
|
| Scope Statement | Two unrelated consanguineous Pakistani families have been reported (last curated March 2017) [MISCELLANEOUS]
Onset at birth [MISCELLANEOUS]
Caused by mutation in the 135-kD centrosomal protein gene (CEP135, 611423.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 4q12
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 614673
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3553414
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |