Intellectual developmental disorder, autosomal dominant 64

Preferred Label : Intellectual developmental disorder, autosomal dominant 64;

Symbol : MRD64;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 64;

Prefixed ID : #619188;

Details

Origin ID

619188;

UMLS CUI

C5543067;

Genes related to phenotype
- Zinc finger protein 292 [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bulbous nose [HPO term]
- Cerebellar hypoplasia [HPO term]
- Chronic constipation [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Cupped ear [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Epicanthus [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- High palate [HPO term]
- Hypertelorism [HPO term]
- Hypertonia [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Nystagmus [HPO term]
- Periventricular nodular heterotopia [HPO term]
- Plagiocephaly [HPO term]
- Pointed chin [HPO term]
- Prominent fingertip pads [HPO term]
- Prominent forehead [HPO term]
- Prominent metopic ridge [HPO term]
- Seizure [HPO term]
- Short chin [HPO term]
- Short philtrum [HPO term]
- Single transverse palmar crease [HPO term]
- Smooth philtrum [HPO term]
- Strabismus [HPO term]
- Synophrys [HPO term]
- Thin upper lip vermilion [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]

Keyword's position in hierarchy(ies) :

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