Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures

Preferred Label : Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures;

Symbol : NEDBAS;

CISMeF acronym : NEDBAS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the delta-like canonical NOTCH ligand 1 gene (DLL1, 606582.0001);

Prefixed ID : #618709;

Details

Origin ID

618709;

UMLS CUI

C5231470;

Genes related to phenotype
- Delta-like canonical notch ligand 1 [OMIM gene]
HPO term(s)
- Abnormal corpus callosum morphology [HPO term]
- Abnormal facial shape [HPO term]
- Abnormal vertebral morphology [HPO term]
- Abnormality of brain morphology [HPO term]
- Abnormality of neuronal migration [HPO term]
- Ataxia [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cortical dysplasia [HPO term]
- Global developmental delay [HPO term]
- Hydrocephalus [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Macrocephaly [HPO term]
- Microcephaly [HPO term]
- Seizure [HPO term]
- Ventriculomegaly [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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