Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/618572
http://purl.bioontology.org/ontology/OMIM/618572
Preferred Name

NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY
Synonyms
NEDCHS
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
NEDCHS
prefLabel
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY
Gene Symbol
INTS8
NEDCHS
INT8
notation
618572
Scope Statement
Caused by mutation in the integrator complex subunit 8 gene (INTS8, 611351.0001) [MOLECULAR BASIS]
Three sibs have been reported (last curated September 2019) [MISCELLANEOUS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU000269
http://purl.bioontology.org/ontology/OMIM/MTHU064174
http://purl.bioontology.org/ontology/OMIM/MTHU017295
http://purl.bioontology.org/ontology/OMIM/MTHU000263
http://purl.bioontology.org/ontology/OMIM/MTHU066253
http://purl.bioontology.org/ontology/OMIM/MTHU042504
http://purl.bioontology.org/ontology/OMIM/MTHU014887
http://purl.bioontology.org/ontology/OMIM/MTHU003768
http://purl.bioontology.org/ontology/OMIM/MTHU059862
http://purl.bioontology.org/ontology/OMIM/MTHU000655
http://purl.bioontology.org/ontology/OMIM/MTHU049263
http://purl.bioontology.org/ontology/OMIM/MTHU036360
http://purl.bioontology.org/ontology/OMIM/MTHU000470
http://purl.bioontology.org/ontology/OMIM/MTHU015980
http://purl.bioontology.org/ontology/OMIM/MTHU008796
http://purl.bioontology.org/ontology/OMIM/MTHU066252
http://purl.bioontology.org/ontology/OMIM/MTHU000145
http://purl.bioontology.org/ontology/OMIM/MTHU000242
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
8q22.1
tui
T047
cui
C5231415
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