Developmental delay and seizures with or without movement abnormalities

Preferred Label : Developmental delay and seizures with or without movement abnormalities;

Symbol : DEDSM;

CISMeF acronym : DEDSM;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the dehydrodolichyl diphosphate synthase gene (DHDDS, 608172.0002);

Prefixed ID : #617836;

Details

Origin ID

617836;

UMLS CUI

C4693376;

Currated CISMeF NLP mapping
- developmental delay and seizures with or without movement abnormalities [DO Concept]
DO Cross reference
- developmental delay and seizures with or without movement abnormalities [DO Concept]
Genes related to phenotype
- Dehydrodolichyl diphosphate synthase [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Bradykinesia [HPO term]
- Chiari type I malformation [HPO term]
- Delayed speech and language development [HPO term]
- Dystonia [HPO term]
- EEG abnormality [HPO term]
- Epileptic encephalopathy [HPO term]
- Generalized hypotonia [HPO term]
- Generalized myoclonic seizure [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability [HPO term]
- Myoclonic absence seizure [HPO term]
- Rigidity [HPO term]
- Short stature [HPO term]
- Tremor [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Non-specific early-onset epileptic encephalopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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