Intellectual developmental disorder, X-linked 109

Preferred Label : Intellectual developmental disorder, X-linked 109;

Symbol : XLID109;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Fraxe mental retardation syndrome; Mental retardation, X-linked, associated with fragile site fraxe; Mental retardation, X-linked 109; MRX109;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the AF4/FMR2 family, member 2 gene (AFF2, 300806.0001);

Prefixed ID : #309548;

Details

Origin ID

309548;

UMLS CUI

C0751157;

Automatic exact mappings (from CISMeF team)
- fragile x syndrome [MeSH Descriptor]
Currated CISMeF NLP mapping
- FRAXE (disorder) [SNOMED CT concept]
- FRAXE intellectual disability [ORDO Disease]
- FRAXE intellectual disability syndrome (disorder) [SNOMED CT concept]
- FRAXE syndrome [MeSH concept]
Genes related to phenotype
- Alf transcription elongation factor 2 [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Agitation [HPO term]
- Delayed speech and language development [HPO term]
- Epicanthus [HPO term]
- Fetal distress [HPO term]
- Hoarse voice [HPO term]
- Hyperactivity [HPO term]
- Impulsivity [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Long upper lip [HPO term]
- Microcephaly [HPO term]
- Obsessive-compulsive behavior [HPO term]
- Poor coordination [HPO term]
- Prominent nasal bridge [HPO term]
- Recurrent hand flapping [HPO term]
- Short stature [HPO term]
- Stereotypical body rocking [HPO term]
- Thick vermilion border [HPO term]
- X-linked inheritance [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- FRAXE intellectual disability [ORDO Disease]
See also inter- (CISMeF)
- FRAXA syndrome [MeSH concept]
- Fragile X syndrome [ORDO Disease]
- fragile x syndrome [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- FRAXE (disorder) [SNOMED CT concept]
- FRAXE intellectual disability [ORDO Disease]
- FRAXE syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

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