Neurodevelopmental disorder with hyperkinetic movements and dyskinesia

Preferred Label : Neurodevelopmental disorder with hyperkinetic movements and dyskinesia;

Symbol : NEDHYD;

Type : Phenotype, molecular basis known;

Prefixed ID : #619651;

Details

Origin ID

619651;

UMLS CUI

C5562038;

Genes related to phenotype
- Adenylate cyclase 5 [OMIM gene]
HPO term(s)
- Agitation [HPO term]
- Anxiety [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Death in childhood [HPO term]
- Delayed ability to roll over [HPO term]
- Delayed ability to sit [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Dystonia [HPO term]
- Failure to thrive [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, moderate [HPO term]
- Intellectual disability, severe [HPO term]
- Myoclonus [HPO term]
- Obsessive-compulsive behavior [HPO term]
- Poor eye contact [HPO term]
- Poor head control [HPO term]
- Thin corpus callosum [HPO term]
- Tremor [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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