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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618505
http://purl.bioontology.org/ontology/OMIM/618505
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|---|---|
| Preferred Name | STOLERMAN NEURODEVELOPMENTAL SYNDROME |
| Synonyms |
NEDCFSA
NEDSST
NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | NEDCFSA
NEDSST
NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES
|
|---|---|
| prefLabel | STOLERMAN NEURODEVELOPMENTAL SYNDROME
|
| Gene Symbol |
KDM6B
NEDSST
JMJD3
KIAA0346
|
| Scope Statement | De novo mutation (in most cases) [MISCELLANEOUS]
Rare families show autosomal dominant inheritance with incomplete penetrance and variable expressivity [MISCELLANEOUS]
Caused by mutation in the lysine demethylase 6B gene (KDM6B, 611577.0002) [MOLECULAR BASIS]
Highly variable phenotype [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 17p13.1
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 618505
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5193134
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |