Intellectual developmental disorder, X-linked, syndromic, snijders blok type

Preferred Label : Intellectual developmental disorder, X-linked, syndromic, snijders blok type;

Symbol : MRXSSB;

CISMeF acronym : MRX102; MRXSSB;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MRX102; Mental retardation, X-linked 102;

Inheritance : X-linked recessive; X-linked dominant;

Molecular basis : Caused by mutation in the DEAD-box helicase 3, X-linked gene (DDX3X, 300160.0001);

Prefixed ID : #300958;

Details

Origin ID

300958;

UMLS CUI

C5393299;

Automatic exact mappings (from CISMeF team)
- MRx102 [MeSH concept]
- MRx102 [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Mental Retardation, X-linked 102 [NCIt concept]
Genes related to phenotype
- Dead-box helicase 3, X-linked [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Anteverted nares [HPO term]
- Behavioral abnormality [HPO term]
- Bifid uvula [HPO term]
- Brachycephaly [HPO term]
- Broad-based gait [HPO term]
- Bulbous nose [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Decreased body weight [HPO term]
- Dyskinesia [HPO term]
- Dysplastic pulmonary valve [HPO term]
- Hearing impairment [HPO term]
- Hyperactivity [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Long face [HPO term]
- Microcephaly [HPO term]
- Precocious puberty [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
- Ventriculomegaly [HPO term]
- Wide nasal bridge [HPO term]
- X-linked dominant inheritance [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked intellectual disability-hypotonia-movement disorder syndrome [ORDO Disease]
See also inter- (CISMeF)
- X-linked intellectual disability-hypotonia-movement disorder syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mental Retardation, X-linked 102 [NCIt concept]

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