Neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures

Preferred Label : Neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures;

Symbol : NEDHELS;

CISMeF acronym : DYSEIDD; NEDHELS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dyskinesia, seizures, and intellectual developmental disorder; DYSEIDD;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the DEAF1 transcription factor gene (DEAF1, 602635.0005);

Prefixed ID : #617171;

Details

Origin ID

617171;

UMLS CUI

C4310683;

Automatic exact mappings (from CISMeF team)
- Intellectual disability-epilepsy-extrapyramidal syndrome [ORDO Disease]
Genes related to phenotype
- Deaf1 transcription factor [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Aggressive behavior [HPO term]
- Agitation [HPO term]
- Autosomal recessive inheritance [HPO term]
- Dyskinesia [HPO term]
- EEG abnormality [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Involuntary movements [HPO term]
- Mood swings [HPO term]
- Seizure [HPO term]
- Sleep disturbance [HPO term]
- Status epilepticus [HPO term]
ORDO concept(s)
- Intellectual disability-epilepsy-extrapyramidal syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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