Intellectual developmental disorder, X-linked, syndromic, bain type

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

Symbol : MRXSB;

CISMeF acronym : MRXSB;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked, syndromic, bain type;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the heterogeneous nuclear ribonucleoprotein H2 gene (HNRNPH2, 300610.0001);

Prefixed ID : #300986;

Details

Origin ID

300986;

UMLS CUI

C4310814;

Automatic exact mappings (from CISMeF team)
- HNRNPH2 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Intellectual Developmental Disorder, X-linked, Syndromic, Bain Type [NCIt concept]
Genes related to phenotype
- Heterogeneous nuclear ribonucleoprotein h2 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Aggressive behavior [HPO term]
- Almond-shaped palpebral fissure [HPO term]
- Anxiety [HPO term]
- Arachnodactyly [HPO term]
- Ataxia [HPO term]
- Atrial septal defect [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autistic behavior [HPO term]
- Cerebellar hypoplasia [HPO term]
- Chronic constipation [HPO term]
- Conspicuously happy disposition [HPO term]
- Curly hair [HPO term]
- Developmental regression [HPO term]
- Drooling [HPO term]
- Epicanthus [HPO term]
- Exotropia [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Gait disturbance [HPO term]
- Gastroesophageal reflux [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hyperlordosis [HPO term]
- Hypertelorism [HPO term]
- Hypertonia [HPO term]
- Hypotelorism [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Joint laxity [HPO term]
- Low hanging columella [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Mitral valve prolapse [HPO term]
- Obsessive-compulsive behavior [HPO term]
- Pectus carinatum [HPO term]
- Pes planus [HPO term]
- Prominent fingertip pads [HPO term]
- Recurrent hand flapping [HPO term]
- Scoliosis [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Self-injurious behavior [HPO term]
- Short palpebral fissure [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Thick vermilion border [HPO term]
- Underdeveloped nasal alae [HPO term]
- Wide mouth [HPO term]
- X-linked dominant inheritance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual Developmental Disorder, X-linked, Syndromic, Bain Type [NCIt concept]

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