Neurodevelopmental disorder with language impairment and behavioral abnormalities

Preferred Label : Neurodevelopmental disorder with language impairment and behavioral abnormalities;

Symbol : NEDLIB;

CISMeF acronym : NEDLIB;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the glutamate receptor, ionotropic, AMPA 2 gene (GRIA2, 138247.0001);

Prefixed ID : #618917;

Details

Origin ID

618917;

UMLS CUI

C5394502;

Genes related to phenotype
- Glutamate receptor, ionotropic, ampa 2 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Chorea [HPO term]
- Clonic seizure [HPO term]
- Cryptorchidism [HPO term]
- Delayed speech and language development [HPO term]
- Dystonia [HPO term]
- Febrile seizure (within the age range of 3 months to 6 years) [HPO term]
- Focal-onset seizure [HPO term]
- Gait ataxia [HPO term]
- Global developmental delay [HPO term]
- Inability to walk [HPO term]
- Intellectual disability [HPO term]
- Obsessive-compulsive behavior [HPO term]
- Progressive microcephaly [HPO term]
- Self-injurious behavior [HPO term]
- Spasticity [HPO term]
- Stereotypical hand wringing [HPO term]
- Talipes equinovarus [HPO term]
- Tonic seizure [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients