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Results 1 - 10 of 12 for Skeletal "defects," genital "hypoplasia," intellectual disability
  1. 15q24 microdeletion 
    ... 15q24 microdeletion is associated with mild to moderate intellectual ... have genital abnormalities, which can include an unusually small penis ( ...
    https://medlineplus.gov/genetics/condition/15q24-microdeletion - Genetics
  2. Alpha thalassemia X-linked intellectual disability syndrome 
    ... fatigue.Additional features of alpha thalassemia X-linked intellectual disability ... Genital abnormalities are also common; affected males may have ...
    https://medlineplus.gov/...x-linked-intellectual-disability-syndrome - Genetics
  3. Genitopatellar syndrome 
    ... by genital abnormalities, missing or underdeveloped kneecaps (patellae), ... associated with genitopatellar syndrome. Affected individuals may ...
    https://medlineplus.gov/genetics/condition/genitopatellar-syndrome - Genetics
  4. Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant 
    ... Ohdo syndrome is a rare condition characterized by genital abnormalities ... most common skeletal abnormality associated with the SBBYS variant of Ohdo ...
    https://medlineplus.gov/...ay-barber-biesecker-young-simpson-variant - Genetics
  5. Carpenter syndrome 
    ... appear to be related to the severity of intellectual disability.Other ... abnormalities, most frequently undescended testes (cryptorchidism).A few ...
    https://medlineplus.gov/genetics/condition/carpenter-syndrome - Genetics
  6. Cytochrome P450 oxidoreductase deficiency 
    ... a prominent forehead, and low-set ears. Other skeletal abnormalities can include ... disability, and delayed development are also associated with the ...
    https://medlineplus.gov/...cytochrome-p450-oxidoreductase-deficiency - Genetics
  7. Beare-Stevenson cutis gyrata syndrome 
    ... growth of the brain, causing delayed development and intellectual ... and in the genital region.Additional signs and symptoms of Beare-Stevenson ...
    https://medlineplus.gov/.../beare-stevenson-cutis-gyrata-syndrome - Genetics
  8. 3MC syndrome 
    ... common features of 3MC syndrome include developmental delay, intellectual ... or genitals.3MC syndrome encompasses four disorders that were formerly ...
    https://medlineplus.gov/genetics/condition/3mc-syndrome - Genetics
  9. Pallister-Killian mosaic syndrome 
    ... affected people have had milder features, including mild intellectual disability and less noticeable physical abnormalities. Pallister-Killian mosaic syndrome appears to be a ...
    https://medlineplus.gov/.../pallister-killian-mosaic-syndrome - Genetics
  10. SATB2-associated syndrome 
    ... affects several body systems. It is characterized by intellectual disability, severe speech problems, dental abnormalities, abnormalities of the head and face (craniofacial anomalies), ...
    https://medlineplus.gov/genetics/condition/satb2-associated-syndrome - Genetics
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