U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Blepharophimosis - intellectual disability syndrome, SBBYS type

Blepharophimosis - intellectual disability syndrome, SBBYS type

Synonyms
Mental retardation unusual facies hypothyroidism; OHDO SYNDROME, SBBYS VARIANT; SAY-BARBER-BIESECKER-YOUNG-SIMPSON SYNDROME; Say-Barber-Biesecker Variant of Ohdo Syndrome; Say-Barber-Biesecker-Young-Simpson variant of Ohdo Syndrome; Young Simpson syndrome
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: KAT6B Disorders
KAT6B disorders include genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) which are part of a broad phenotypic spectrum with variable expressivity; individuals presenting with a phenotype intermediate between GPS and SBBYSS have been reported. Both phenotypes are characterized by some degree of global developmental delay / intellectual disability; hypotonia; genital abnormalities; and skeletal abnormalities including patellar hypoplasia/agenesis, flexion contractures of the knees and/or hips, and anomalies of the digits, spine, and/or ribs. Congenital heart defects, small bowel malrotation, feeding difficulties, slow growth, cleft palate, hearing loss, and dental anomalies have been observed in individuals with either phenotype.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Gabrielle Lemire
Philippe M Campeau
Brendan H Lee
view full author information

Available tests

31 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (31 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GTPTS, MORF, MOZ2, MYST4, ZC2HC6B, qkf, querkopf, KAT6B
    Summary: lysine acetyltransferase 6B

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.