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Genitopatellar syndrome
- Genitopatellar syndrome is a rare condition characterized by genital abnormalities, missing or underdeveloped kneecaps (patellae), intellectual disability, and ... is the most common skeletal abnormality associated with genitopatellar syndrome. Affected individuals may have additional skeletal problems, including ...
- ... KAT6B gene have been identified in people with genitopatellar syndrome, a rare condition characterized by genital abnormalities, missing ... parts of the body. The mutations that cause genitopatellar syndrome occur near the end of the KAT6B gene ...
- Developmental Disabilities (National Library of Medicine)Developmental disabilities are severe, long-term problems. They may be physical, such as blindness. They may affect mental ability, such as learning disabilities. ...
- ... Gibbs RA, Lee BH. The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features ...
