Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy

Preferred Label : Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy;

Symbol : NEDESBA;

CISMeF acronym : NEDESBA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the trafficking protein particle complex, subunit 4 gene (TRAPPC4, 610971.0001);

Prefixed ID : #618741;

Details

Origin ID

618741;

UMLS CUI

C5394027;

Genes related to phenotype
- Trafficking protein particle complex, subunit 4 [OMIM gene]
HPO term(s)
- Brain atrophy [HPO term]
- Cerebellar atrophy [HPO term]
- Feeding difficulties in infancy [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability, profound [HPO term]
- Long philtrum [HPO term]
- Microcephaly [HPO term]
- Narrow forehead [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Spastic tetraparesis [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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