Rare Mendelian disorder associations included androgen insensitivity and hypospadias related to AR, and neurological conditions linked to HTT (i.e., neurodevelopmental disorder: Lopes-Maciel-Rodan syndrome), CACNA1A (i.e., developmental and epileptic encephalopathy), and ATN1 (i.e., congenital hypotonia, epilepsy, developmental delay, and digital anomalies). The gene discussed is CACNA1A; the disease is developmental and epileptic encephalopathy.