Intellectual developmental disorder, X-linked 106

Preferred Label : Intellectual developmental disorder, X-linked 106;

Symbol : XLID106;

CISMeF acronym : MRX106;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked 106; MRX106;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the O-linked N-acetylglucosamine transferase gene (OGT, 300255.0001);

Prefixed ID : #300997;

Details

Origin ID

300997;

UMLS CUI

C4478379;

Currated CISMeF NLP mapping
- non-syndromic X-linked intellectual disability 106 [DO Concept]
DO Cross reference
- non-syndromic X-linked intellectual disability 106 [DO Concept]
Genes related to phenotype
- O-linked n-acetylglucosamine transferase [OMIM gene]
HPO term(s)
- Amblyopia [HPO term]
- Bicuspid aortic valve [HPO term]
- Clinodactyly [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Cryptorchidism [HPO term]
- Decreased testicular size [HPO term]
- Frontal upsweep of hair [HPO term]
- Global developmental delay [HPO term]
- High hypermetropia [HPO term]
- Hypertelorism [HPO term]
- Hypospadias [HPO term]
- Intellectual disability [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Nystagmus [HPO term]
- Open mouth [HPO term]
- Synophrys [HPO term]
- Thick vermilion border [HPO term]
- Thin upper lip vermilion [HPO term]
- X-linked recessive inheritance [HPO term]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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