Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures

Preferred Label : Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures;

Symbol : NEDAMSS;

CISMeF acronym : NEDAMSS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the interferon regulatory factor 2-binding protein like gene (IRF2BPL, 611720.0001);

Prefixed ID : #618088;

Details

Origin ID

618088;

UMLS CUI

C4748127;

Genes related to phenotype
- Interferon regulatory factor 2-binding protein like [OMIM gene]
HPO term(s)
- Abnormality of eye movement [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Choreoathetosis [HPO term]
- Corpus callosum atrophy [HPO term]
- Developmental regression [HPO term]
- Dysarthria [HPO term]
- Dysmetria [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Esotropia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability [HPO term]
- Loss of speech [HPO term]
- Nystagmus [HPO term]
- Progressive [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Weakness of facial musculature [HPO term]
ORDO concept(s)
- IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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