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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/251255
http://purl.bioontology.org/ontology/OMIM/251255
|
|---|---|
| Preferred Name | JAWAD SYNDROME |
| Synonyms |
KELLY SYNDROME
JWDS
MICROCEPHALY WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND DIGITAL ANOMALIES
MICROCEPHALY WITH MENTAL RETARDATION AND DIGITAL ANOMALIES
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
KELLY SYNDROME
JWDS
MICROCEPHALY WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND DIGITAL ANOMALIES
MICROCEPHALY WITH MENTAL RETARDATION AND DIGITAL ANOMALIES
|
|---|---|
| prefLabel | JAWAD SYNDROME
|
| Gene Symbol |
RIM
SCKL2
JWDS
RBBP8
|
| Scope Statement | Caused by mutation in the retinoblastoma-binding protein 8 gene (RBBP8, 604124.0003) [MOLECULAR BASIS]
Based on report of 1 family (last curated May 2021) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 18q11.2
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 251255
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0796063
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |