Intellectual developmental disorder, X-linked 19

Preferred Label : Intellectual developmental disorder, X-linked 19;

Symbol : XLID19;

CISMeF acronym : MRX19;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked 19; MRX19;

Description : X-linked mental retardation-19 (MRX19) is a nonsyndromic form of mild to moderate mental retardation. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS; 303600), a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with mental retardation and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by Field et al., 2006).;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the ribosomal protein S6 kinase, 90kD, polypeptide 3 gene (RPS6KA3, 300075.0010);

Prefixed ID : #300844;

Details

Origin ID

300844;

UMLS CUI

C0796225;

Currated CISMeF NLP mapping
- mental retardation, X-Linked 19 [MeSH concept]
- mental retardation, X-Linked 19 [MeSH Supplementary Concept]
DO Cross reference
- non-syndromic X-linked intellectual disability 19 [DO Concept]
Genes related to phenotype
- Ribosomal protein s6 kinase a3 [OMIM gene]
HPO term(s)
- Broad nasal tip [HPO term]
- Delayed speech and language development [HPO term]
- Dental crowding [HPO term]
- Everted lower lip vermilion [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, mild [HPO term]
- Kyphoscoliosis [HPO term]
- Long foot [HPO term]
- Motor delay [HPO term]
- Prominent forehead [HPO term]
- Scoliosis [HPO term]
- Small for gestational age [HPO term]
- Thick lower lip vermilion [HPO term]
- X-linked dominant inheritance [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- X-linked non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- mental retardation, X-Linked 19 [MeSH Supplementary Concept]
- mental retardation, X-Linked 19 [MeSH concept]

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