Ohdo Syndrome, SBBYS Variant

Preferred Label : Ohdo Syndrome, SBBYS Variant;

NCIt synonyms : Blepharophimosis-Intellectual Disability Syndrome, SBBYS Type; Say-Barber-Biesecker-Young-Simpson Syndrome; YSS;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the KAT6B gene encoding histone acetyltransferase KAT6B. It is characterized by intellectual disability, distinctive facial features. Other characteristics are variable, but often include absent knee caps in males.;

Details

Origin ID

C206524;

concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- KAT6B Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

All resources
or only the major
or use the search engine

recommendations
documents concerning education
documents for patients