has material basis in germline mutation in KCNH1 KCNH1 associated disorder MONDO:0100485 Any neurodevelopmental disorder in which the cause of the disease is a mutation in the KCNH1 gene. Variants in KCNH1 cause significant neurodevelopmental disabilities that lie along a phenotypic spectrum ranging from non-syndromic to syndromic. The most common phenotypes associated with variants in KCNH1 include intellectual disability, seizures, hypotonia, absence or hypoplasia of nails, and gingival enlargement. Hypoplastic terminal phalanges of fingers and toes, proximal placement and long thumb, and long toes present less frequently. KCNH1 related disorder GARD:0027274 Mendelian neurodevelopmental disorder neurodevelopmental disorder