Intellectual developmental disorder, autosomal dominant 7

Preferred Label : Intellectual developmental disorder, autosomal dominant 7;

Symbol : MRD7;

CISMeF acronym : MRD7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 7;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the dual specificity tyrosine-(Y)-phosphorylation regulated kinase-1A gene (DYRK1A, 600855.0001);

Prefixed ID : #614104;

Details

Origin ID

614104;

UMLS CUI

C5568143;

Currated CISMeF NLP mapping
- Mental Retardation, Autosomal Dominant 7 [NCIt concept]
- autosomal dominant non-syndromic intellectual disability 7 [DO Concept]
DO Cross reference
- autosomal dominant non-syndromic intellectual disability 7 [DO Concept]
Genes related to phenotype
- Dual-specificity tyrosine phosphorylation-regulated kinase 1a [OMIM gene]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Ataxia [HPO term]
- Autism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Birth length less than 3rd percentile [HPO term]
- Bulbous nose [HPO term]
- Cerebral cortical atrophy [HPO term]
- Deeply set eye [HPO term]
- Delayed speech and language development [HPO term]
- Failure to thrive in infancy [HPO term]
- Febrile seizure (within the age range of 3 months to 6 years) [HPO term]
- Feeding difficulties in infancy [HPO term]
- Gait disturbance [HPO term]
- Generalized hypotonia [HPO term]
- Hallux valgus [HPO term]
- Happy demeanor [HPO term]
- Hyperactivity [HPO term]
- Hypotelorism [HPO term]
- Inappropriate laughter [HPO term]
- Incoordination [HPO term]
- Intellectual disability, severe [HPO term]
- Intrauterine growth retardation [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Narrow forehead [HPO term]
- Pectus excavatum [HPO term]
- Recurrent infections [HPO term]
- Seizure [HPO term]
- Severe global developmental delay [HPO term]
- Short stature [HPO term]
- Small for gestational age [HPO term]
- Smooth philtrum [HPO term]
- Stereotypical hand wringing [HPO term]
- Thick lower lip vermilion [HPO term]
- Thickened helices [HPO term]
- Thin upper lip vermilion [HPO term]
ORDO concept(s)
- DYRK1A-related intellectual disability syndrome [ORDO Disease]
See also inter- (CISMeF)
- DYRK1A wt Allele [NCIt concept]
- DYRK1A-related intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) [SNOMED CT concept]
- Mental Retardation, Autosomal Dominant 7 [NCIt concept]
Validated automatic mappings to NTBT
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]

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