Intellectual developmental disorder, autosomal dominant 61

Preferred Label : Intellectual developmental disorder, autosomal dominant 61;

Symbol : MRD61;

CISMeF acronym : MRD61;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 61;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the mediator complex subunit 13 gene (MED13, 603808.0001);

Prefixed ID : #618009;

Details

Origin ID

618009;

UMLS CUI

C5231400;

Automatic exact mappings (from CISMeF team)
- MED13 wt Allele [NCIt concept]
Genes related to phenotype
- Mediator complex subunit 13 [OMIM gene]
HPO term(s)
- Attention deficit hyperactivity disorder [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Chronic constipation [HPO term]
- Delayed gross motor development [HPO term]
- Delayed speech and language development [HPO term]
- Duane anomaly [HPO term]
- Generalized myoclonic-atonic seizure [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Narrow palpebral fissure [HPO term]
- Periorbital fullness [HPO term]
- Prominent nasal bridge [HPO term]
- Smooth philtrum [HPO term]
- Speech apraxia [HPO term]
- Synophrys [HPO term]
- Thin upper lip vermilion [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Non-specific syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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