Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/619264
http://purl.bioontology.org/ontology/OMIM/619264
Preferred Name

NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES
Synonyms
NEDDFAS
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
NEDDFAS
prefLabel
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES
Gene Symbol
EMC10
NEDDFAS
HSS1
C19orf63
HSM1
Scope Statement
Nonprogressive [MISCELLANEOUS]
Caused by mutation in the endoplasmic reticulum membrane protein complex, subunit 10 gene (EMC10, 614545.0001) [MOLECULAR BASIS]
Onset in infancy or early childhood [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU000229
http://purl.bioontology.org/ontology/OMIM/MTHU005403
http://purl.bioontology.org/ontology/OMIM/MTHU003378
http://purl.bioontology.org/ontology/OMIM/MTHU000253
http://purl.bioontology.org/ontology/OMIM/MTHU004092
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU036369
http://purl.bioontology.org/ontology/OMIM/MTHU000848
http://purl.bioontology.org/ontology/OMIM/MTHU046703
http://purl.bioontology.org/ontology/OMIM/MTHU061712
http://purl.bioontology.org/ontology/OMIM/MTHU073014
http://purl.bioontology.org/ontology/OMIM/MTHU030536
http://purl.bioontology.org/ontology/OMIM/MTHU047527
http://purl.bioontology.org/ontology/OMIM/MTHU073016
http://purl.bioontology.org/ontology/OMIM/MTHU001151
http://purl.bioontology.org/ontology/OMIM/MTHU006083
http://purl.bioontology.org/ontology/OMIM/MTHU068098
http://purl.bioontology.org/ontology/OMIM/MTHU036439
http://purl.bioontology.org/ontology/OMIM/MTHU001611
http://purl.bioontology.org/ontology/OMIM/MTHU002674
http://purl.bioontology.org/ontology/OMIM/MTHU036841
http://purl.bioontology.org/ontology/OMIM/MTHU000710
http://purl.bioontology.org/ontology/OMIM/MTHU021497
http://purl.bioontology.org/ontology/OMIM/MTHU003860
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU036349
http://purl.bioontology.org/ontology/OMIM/MTHU015980
http://purl.bioontology.org/ontology/OMIM/MTHU002507
http://purl.bioontology.org/ontology/OMIM/MTHU073015
http://purl.bioontology.org/ontology/OMIM/MTHU000235
http://purl.bioontology.org/ontology/OMIM/MTHU000242
See more
See less
tui
T047
Gene Locus
19q13.33
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
619264
Semantic type UMLS property
Has inheritance type
cui
C5543268
OMIM Entry Type
3
OMIM MimType Value
pound
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display