Intellectual developmental disorder with seizures and language delay

Preferred Label : Intellectual developmental disorder with seizures and language delay;

Symbol : IDDSELD;

CISMeF acronym : IDDSELD;

Type : Phenotype, molecular basis known;

Prefixed ID : #619000;

Details

Origin ID

619000;

UMLS CUI

C5436574;

Genes related to phenotype
- Set domain-containing protein 1b [OMIM gene]
HPO term(s)
- Anxiety [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Delayed speech and language development [HPO term]
- Downslanted palpebral fissures [HPO term]
- EEG with polyspike wave complexes [HPO term]
- EEG with spike-wave complexes (2.5-3.5 Hz) [HPO term]
- Flat occiput [HPO term]
- Full cheeks [HPO term]
- Global developmental delay [HPO term]
- Increased theta frequency activity in EEG [HPO term]
- Intellectual disability, mild [HPO term]
- Intellectual disability, profound [HPO term]
- Myoclonic absence seizure [HPO term]
- Myoclonic seizure [HPO term]
- Square face [HPO term]
- Tapered finger [HPO term]
- Thick eyebrow [HPO term]
- Thick lower lip vermilion [HPO term]
ORDO concept(s)
- Non-specific syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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