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ENMetaphyseal Acroscyphodysplasia
Alias:
Intellectual Disability-Short Stature-Wedge-Shaped Epiphyses of Knees Syndrome
Bellini Syndrome
Cupped Metaphyses and Cone-Shaped Epiphyses of Knees with Brachydactyly
Bellini Chiumello Rimoldi Syndrome
Wedge-Shaped Epiphyses of Knees
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Metaphyseal Acroscyphodysplasia, also known as intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome, is related to coloboma of macula and enchondromatosis, multiple, ollier type. Affiliated tissues include bone, and related phenotypes are bowing of the long bones and short toe
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MALACARDS
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