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INTU-related skeletal ciliopathy
MONDO:1060154A 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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Orofaciodigital syndrome 17 0 trials
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