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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619323
http://purl.bioontology.org/ontology/OMIM/619323
|
|---|---|
| Preferred Name | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH |
| Synonyms |
NEDSGO
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | NEDSGO
|
|---|---|
| prefLabel | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH
|
| Gene Symbol |
TBC1D2B
NEDSGO
KIAA1055
|
| Scope Statement | Features may become more apparent with age [MISCELLANEOUS]
Caused by mutation in the TBC1 domain family, member 2B gene (TBC1D2B, 619152.0001) [MOLECULAR BASIS]
Onset of gingival hypertrophy in the first years of life [MISCELLANEOUS]
Four patients from 3 unrelated families have been reported (last curated May 2021) [MISCELLANEOUS]
Highly variable phenotype [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 15q24.3-q25.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 619323
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5543395
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |