KINSSHIP syndrome

MONDO:0851095

A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has material basis in heterozygous mutation in AFF3 on chromosome 2q11.2.

0 clinical trials for this condition and its sub-types, 0 tagged with KINSSHIP syndrome itself.

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↑ Syndromic disease (7133) ↑ Autosomal dominant disease (699)

Including sub-types (0) Tagged with KINSSHIP syndrome (0)

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