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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
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Preferred Name | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY |
Synonyms |
NEDCHS
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
altLabel | NEDCHS
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prefLabel | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY
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Gene Symbol |
INTS8
NEDCHS
INT8
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notation | 618572
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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]
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OMIM MimType Value | pound
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Has inheritance type | |
Semantic type UMLS property | |
OMIM Entry Type | 3
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type | |
Has manifestation |
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MIMTYPEMEANING | Phenotype description, molecular basis known.
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Gene Locus | 8q22.1
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tui | T047
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cui | C5231415
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