Intellectual developmental disorder, X-linked 107

Preferred Label : Intellectual developmental disorder, X-linked 107;

Symbol : XLID107;

CISMeF acronym : MRX107;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked 107; MRX107;

Inheritance : X-linked;

Molecular basis : Caused by mutation in the chromosome X open reading frame 56 gene (CXORF56, 301012.0001);

Prefixed ID : #301013;

Details

Origin ID

301013;

UMLS CUI

C4692652;

Automatic exact mappings (from CISMeF team)
- STEEP1 wt Allele [NCIt concept]
- non-syndromic X-linked intellectual disability 107 [DO Concept]
DO Cross reference
- non-syndromic X-linked intellectual disability 107 [DO Concept]
Genes related to phenotype
- Sting1 er exit protein 1 [OMIM gene]
HPO term(s)
- Abnormality of superior crus of antihelix [HPO term]
- Aggressive behavior [HPO term]
- Anxiety [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autistic behavior [HPO term]
- Broad chin [HPO term]
- Broad forehead [HPO term]
- Global developmental delay [HPO term]
- Hyperactivity [HPO term]
- Intellectual disability [HPO term]
- Long face [HPO term]
- Macrotia [HPO term]
- Mandibular prognathia [HPO term]
- Narrow face [HPO term]
- Obesity [HPO term]
- Prominent crus of helix [HPO term]
- Seizure [HPO term]
- Smooth philtrum [HPO term]
- Thin upper lip vermilion [HPO term]
- Upslanted palpebral fissure [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- X-linked non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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