Intellectual developmental disorder with or without epilepsy or cerebellar ataxia

Preferred Label : Intellectual developmental disorder with or without epilepsy or cerebellar ataxia;

Symbol : IDDECA;

CISMeF acronym : IDDECA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the RAR-related orphan receptor A gene (RORA, 600825.0001);

Prefixed ID : #618060;

Details

Origin ID

618060;

UMLS CUI

C4748041;

Genes related to phenotype
- Rar-related orphan receptor a [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Amblyopia [HPO term]
- Ataxia [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Borderline personality disorder [HPO term]
- Cerebellar hypoplasia [HPO term]
- Chronic constipation [HPO term]
- Cryptorchidism [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Esotropia [HPO term]
- Eyelid myoclonus [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hydronephrosis [HPO term]
- Hypermetropia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Incoordination [HPO term]
- Intellectual disability [HPO term]
- Motor delay [HPO term]
- Nystagmus [HPO term]
- Oculomotor apraxia [HPO term]
- Pontocerebellar atrophy [HPO term]
- Seizure [HPO term]
- Spina bifida occulta [HPO term]
- Strabismus [HPO term]
- Tremor [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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