Intellectual developmental disorder, autosomal dominant 39

Preferred Label : Intellectual developmental disorder, autosomal dominant 39;

Symbol : MRD39;

CISMeF acronym : MRD39;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 39, and obesity; Mental retardation, autosomal dominant 39;

Included titles and symbols : Chromosome 2p25.3 deletion syndrome; Chromosome 2p25.3 duplication syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the myelin transcription factor 1-like gene (MYT1L, 613084.0001);

Prefixed ID : #616521;

Details

Origin ID

616521;

UMLS CUI

C4225296;

CISMeF manual mappings
- Mental Retardation, Autosomal Dominant 39 [NCIt concept]
Currated CISMeF NLP mapping
- autosomal dominant non-syndromic intellectual disability 39 [DO Concept]
DO Cross reference
- autosomal dominant non-syndromic intellectual disability 39 [DO Concept]
Genes related to phenotype
- Myelin transcription factor 1-like [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral talipes equinovarus [HPO term]
- Cerebral atrophy [HPO term]
- Delayed ability to walk [HPO term]
- Delayed gross motor development [HPO term]
- Delayed speech and language development [HPO term]
- Focal impaired awareness seizure [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Global developmental delay [HPO term]
- Hydrocephalus [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Neonatal hypotonia [HPO term]
- Obesity [HPO term]
- Polyphagia [HPO term]
- Self-mutilation [HPO term]
- Thin corpus callosum [HPO term]
- Wide mouth [HPO term]
- Wide nasal base [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mental Retardation, Autosomal Dominant 39 [NCIt concept]
- autosomal dominant non-syndromic intellectual disability 39 [DO Concept]

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