Intellectual developmental disorder, autosomal recessive 66, OMIM # 618221 is a rare developmental disorder. It is inherited as an autosomal recessive trait. It is caused by the C12orf4 gene (also called FERRY endosomal RAB5 effector complex subunit 3). The main clinical features are mild to severe intellectual disability, hypotonia, neuropsychiatric symptoms and delayed speech development.
C12orf4