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Results 1 - 4 of 4 for Genitopatellar syndrome
  1. 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 ...
    https://medlineplus.gov/genetics/condition/genitopatellar-syndrome - Genetics
  2. KAT6B gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/kat6b - Genetics
  3. Developmental Disabilities (National Library of Medicine)  
    What are developmental disabilities? Developmental disabilities are conditions that are usually present at birth. They can affect a child's growth and ...
    https://medlineplus.gov/developmentaldisabilities.html - Health Topics
  4. Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant 
    ... Gibbs RA, Lee BH. The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features ...
    https://medlineplus.gov/...ay-barber-biesecker-young-simpson-variant - Genetics