At least two neurological disorders with PCH have already been observed in combination with a disorder of sexual development: PCH7 due to bi-allelic variants in TOE1 (OMIM # 614969, *613931 [9]) and Joubert syndrome 1 due to bi-allelic variants in INPP5E (OMIM # 213300, *613037). Here, INPP5E is linked to pontocerebellar hypoplasia.