Intellectual developmental disorder, autosomal dominant 63, with macrocephaly

Preferred Label : Intellectual developmental disorder, autosomal dominant 63, with macrocephaly;

Symbol : MRD63;

CISMeF acronym : MRD63;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 63, with macrocephaly;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the triple functional domain gene (TRIO, 601893.0007);

Prefixed ID : #618825;

Details

Origin ID

618825;

UMLS CUI

C5394205;

Genes related to phenotype
- Triple functional domain [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Anteverted nares [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal dominant inheritance [HPO term]
- Chronic constipation [HPO term]
- Delayed ability to sit [HPO term]
- Delayed ability to walk [HPO term]
- Delayed eruption of teeth [HPO term]
- Delayed speech and language development [HPO term]
- Dental crowding [HPO term]
- Downslanted palpebral fissures [HPO term]
- Feeding difficulties in infancy [HPO term]
- Frontal bossing [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Highly arched eyebrow [HPO term]
- Hypertelorism [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Long philtrum [HPO term]
- Low hanging columella [HPO term]
- Macrocephaly [HPO term]
- Obsessive-compulsive trait [HPO term]
- Pain insensitivity [HPO term]
- Prominent nasal bridge [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short chin [HPO term]
- Tapered finger [HPO term]
- Underdeveloped nasal alae [HPO term]
- Wide mouth [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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