SNX10 and autosomal recessive osteopetrosis: SNX10 has been associated with autosomal recessive osteopetrosis which includes clinical features such as macrocephaly and facial anomalies (OMIM #615085); however, it is not a highly constrained gene in the gnomAD database54 (pLI = 0, LOEUF = 1.07) suggesting loss of a single copy is well tolerated in humans.