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INTU-related skeletal ciliopathy

MONDO:1060154

A skeletal ciliopathy caused by a mutation in INTU gene and is characterized by facial dysmorphism, tongue nodules, developmental delay, and polydactyly. Some individuals may also present with short stature, or other variable syndromic findings.

0 clinical trials for this condition and its sub-types, 0 tagged with INTU-related skeletal ciliopathy itself.

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Sub-types of INTU-related skeletal ciliopathy

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