Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/618741
http://purl.bioontology.org/ontology/OMIM/618741
Preferred Name

NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY
Synonyms
NEDESBA
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
NEDESBA
prefLabel
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY
Gene Symbol
TRAPPC4
NEDESBA
Scope Statement
Onset of seizures in the first year of life [MISCELLANEOUS]
Death in childhood may occur [MISCELLANEOUS]
Caused by mutation in the trafficking protein particle complex, subunit 4 gene (TRAPPC4, 610971.0001) [MOLECULAR BASIS]
Onset soon after birth [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU000300
http://purl.bioontology.org/ontology/OMIM/MTHU070817
http://purl.bioontology.org/ontology/OMIM/MTHU022143
http://purl.bioontology.org/ontology/OMIM/MTHU037344
http://purl.bioontology.org/ontology/OMIM/MTHU004637
http://purl.bioontology.org/ontology/OMIM/MTHU060808
http://purl.bioontology.org/ontology/OMIM/MTHU063758
http://purl.bioontology.org/ontology/OMIM/MTHU000580
http://purl.bioontology.org/ontology/OMIM/MTHU000583
http://purl.bioontology.org/ontology/OMIM/MTHU000136
http://purl.bioontology.org/ontology/OMIM/MTHU007254
http://purl.bioontology.org/ontology/OMIM/MTHU076865
http://purl.bioontology.org/ontology/OMIM/MTHU001772
http://purl.bioontology.org/ontology/OMIM/MTHU049055
http://purl.bioontology.org/ontology/OMIM/MTHU012538
http://purl.bioontology.org/ontology/OMIM/MTHU002761
http://purl.bioontology.org/ontology/OMIM/MTHU000036
http://purl.bioontology.org/ontology/OMIM/MTHU002602
http://purl.bioontology.org/ontology/OMIM/MTHU000575
http://purl.bioontology.org/ontology/OMIM/MTHU000394
http://purl.bioontology.org/ontology/OMIM/MTHU002170
http://purl.bioontology.org/ontology/OMIM/MTHU001429
http://purl.bioontology.org/ontology/OMIM/MTHU051558
http://purl.bioontology.org/ontology/OMIM/MTHU002674
http://purl.bioontology.org/ontology/OMIM/MTHU036384
http://purl.bioontology.org/ontology/OMIM/MTHU000655
http://purl.bioontology.org/ontology/OMIM/MTHU076864
http://purl.bioontology.org/ontology/OMIM/MTHU042911
http://purl.bioontology.org/ontology/OMIM/MTHU001330
http://purl.bioontology.org/ontology/OMIM/MTHU005783
http://purl.bioontology.org/ontology/OMIM/MTHU001056
http://purl.bioontology.org/ontology/OMIM/MTHU070816
http://purl.bioontology.org/ontology/OMIM/MTHU001853
http://purl.bioontology.org/ontology/OMIM/MTHU000235
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tui
T047
Gene Locus
11q23.3
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
618741
Semantic type UMLS property
Has inheritance type
cui
C5394027
OMIM Entry Type
3
OMIM MimType Value
pound
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