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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/303600
http://purl.bioontology.org/ontology/OMIM/303600
|
|---|---|
| Preferred Name | COFFIN-LOWRY SYNDROME |
| Synonyms |
CLS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CLS
|
|---|---|
| prefLabel | COFFIN-LOWRY SYNDROME
|
| Gene Symbol |
XLID19
RSK2
RPS6KA3
|
| notation | 303600
|
| Scope Statement | Incidence of 1 in 50,000 to 1 in 100,000 [MISCELLANEOUS]
Approximately 70-80% of cases are de novo and sporadic [MISCELLANEOUS]
Caused by mutation in the ribosomal protein S6 kinase A3 gene (RPS6KA3, 300075.0001) [MOLECULAR BASIS]
Clinical features in females include mild mental retardation (80%), short stature (50%), prominent forehead, and coarse facies [MISCELLANEOUS]
Milder expression in female heterozygotes [MISCELLANEOUS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | Xp22.2-p22.1
|
| tui | T047
|
| cui | C0265252
|
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