Intellectual developmental disorder, autosomal dominant 44, with microcephaly

Preferred Label : Intellectual developmental disorder, autosomal dominant 44, with microcephaly;

Symbol : MRD44;

CISMeF acronym : MRD44;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 44;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the triple functional domain gene (TRIO, 601893.0001);

Prefixed ID : #617061;

Details

Origin ID

617061;

UMLS CUI

C4310740;

Automatic exact mappings (from CISMeF team)
- Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal dominant non-syndromic intellectual disability 44 [DO Concept]
DO Cross reference
- autosomal dominant non-syndromic intellectual disability 44 [DO Concept]
Genes related to phenotype
- Triple functional domain [OMIM gene]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- Aggressive behavior [HPO term]
- Atrial septal defect [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Bulbous nose [HPO term]
- Childhood onset [HPO term]
- Chronic constipation [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Dental crowding [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dysphagia [HPO term]
- Epicanthus [HPO term]
- Facial asymmetry [HPO term]
- Fatigue [HPO term]
- Feeding difficulties [HPO term]
- Frontal upsweep of hair [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- Hirsutism [HPO term]
- Hyperacusis [HPO term]
- Hyperreflexia [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Kyphosis [HPO term]
- Long philtrum [HPO term]
- Low anterior hairline [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Motor delay [HPO term]
- Obsessive-compulsive behavior [HPO term]
- Oligodontia [HPO term]
- Overfolded helix [HPO term]
- Pain insensitivity [HPO term]
- Patent ductus arteriosus [HPO term]
- Pectus excavatum [HPO term]
- Periorbital fullness [HPO term]
- Poor speech [HPO term]
- Ptosis [HPO term]
- Recurrent infections [HPO term]
- Retrognathia [HPO term]
- Sandal gap [HPO term]
- Scapular winging [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Self-injurious behavior [HPO term]
- Short chin [HPO term]
- Short nose [HPO term]
- Short philtrum [HPO term]
- Single transverse palmar crease [HPO term]
- Synophrys [HPO term]
- Tapered finger [HPO term]
- Thick eyebrow [HPO term]
- Thick vermilion border [HPO term]
- Thin upper lip vermilion [HPO term]
- Tremor [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventricular septal defect [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients