Intellectual developmental disorder, autosomal dominant 65

Preferred Label : Intellectual developmental disorder, autosomal dominant 65;

Symbol : MRD65;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 65;

Prefixed ID : #619320;

Details

Origin ID

619320;

UMLS CUI

C5543371;

Genes related to phenotype
- Lysine demethylase 4b [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Aggressive behavior [HPO term]
- Anteverted nares [HPO term]
- Ataxia [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bulbous nose [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Clumsiness [HPO term]
- Delayed fine motor development [HPO term]
- Delayed gross motor development [HPO term]
- Delayed speech and language development [HPO term]
- Downturned corners of mouth [HPO term]
- Dysgenesis of the hippocampus [HPO term]
- Facial asymmetry [HPO term]
- Facial hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Infantile spasms [HPO term]
- Intellectual disability [HPO term]
- Long philtrum [HPO term]
- Low posterior hairline [HPO term]
- Low-set ears [HPO term]
- Macrotia [HPO term]
- Micrognathia [HPO term]
- Narrow forehead [HPO term]
- Narrow palpebral fissure [HPO term]
- Noncommunicating hydrocephalus [HPO term]
- Obsessive-compulsive behavior [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent metopic ridge [HPO term]
- Round face [HPO term]
- Seizure [HPO term]
- Short foot [HPO term]
- Short palm [HPO term]
- Short philtrum [HPO term]
- Single transverse palmar crease [HPO term]
- Sparse hair [HPO term]
- Synophrys [HPO term]
- Tented upper lip vermilion [HPO term]
- Thick upper lip vermilion [HPO term]
- Thin eyebrow [HPO term]
- Turricephaly [HPO term]
- Upslanted palpebral fissure [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]
Validated automatic mappings to NTBT
- Non-specific syndromic intellectual disability [ORDO Disease]

Keyword's position in hierarchy(ies) :

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