Neurodevelopmental disorder with seizures and brain atrophy

Preferred Label : Neurodevelopmental disorder with seizures and brain atrophy;

Symbol : NEDSEBA;

Type : Phenotype, molecular basis known;

Prefixed ID : #619072;

Details

Origin ID

619072;

UMLS CUI

C5436732;

Genes related to phenotype
- Exocyst complex component 7 [OMIM gene]
HPO term(s)
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral cortical atrophy [HPO term]
- Childhood onset [HPO term]
- Congenital onset [HPO term]
- Decreased thalamic volume [HPO term]
- Fetal onset [HPO term]
- Focal-onset seizure [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Infantile onset [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Myoclonic seizure [HPO term]
- Retrognathia [HPO term]
- Rocker bottom foot [HPO term]
- Simplified gyral pattern [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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