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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/617616
http://purl.bioontology.org/ontology/OMIM/617616
|
|---|---|
| Preferred Name | SKRABAN-DEARDORFF SYNDROME |
| Synonyms |
SKDEAS
INTELLECTUAL DISABILITY WITH SEIZURES, ABNORMAL GAIT, AND DISTINCTIVE FACIAL FEATURES
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | SKDEAS
INTELLECTUAL DISABILITY WITH SEIZURES, ABNORMAL GAIT, AND DISTINCTIVE FACIAL FEATURES
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|---|---|
| prefLabel | SKRABAN-DEARDORFF SYNDROME
|
| Gene Symbol |
WDR26
SKDEAS
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| notation | 617616
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| Scope Statement | Onset in infancy [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Caused by mutation in the WD repeat-containing protein 26 gene (WDR26, 617424.0001) [MOLECULAR BASIS]
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| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| Gene Locus | 1q42.13
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| tui | T047
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| cui | C4539927
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