Intellectual developmental disorder with paroxysmal dyskinesia or seizures

Preferred Label : Intellectual developmental disorder with paroxysmal dyskinesia or seizures;

Symbol : IDDPADS;

Type : Phenotype, molecular basis known;

Prefixed ID : #619150;

Details

Origin ID

619150;

UMLS CUI

C5436894;

Genes related to phenotype
- Phosphodiesterase 2a [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bruxism [HPO term]
- Chorea [HPO term]
- Delayed speech and language development [HPO term]
- Developmental regression [HPO term]
- Dystonia [HPO term]
- EEG abnormality [HPO term]
- Facial grimacing [HPO term]
- Falls [HPO term]
- Focal motor status epilepticus [HPO term]
- Focal-onset seizure [HPO term]
- Global developmental delay [HPO term]
- Inappropriate laughter [HPO term]
- Infantile onset [HPO term]
- Insomnia [HPO term]
- Intellectual disability, moderate [HPO term]
- Microcephaly [HPO term]
- Paroxysmal dyskinesia [HPO term]
- Poor coordination [HPO term]
- Seizure [HPO term]
- Ventriculomegaly [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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