WNT7A and phocomelia, Schinzel type: Autosomal recessive WNT7A variants associated with partial loss of function cause the abnormal limb development characteristic of Fuhrmann syndrome (FS; MIM# 228930), and autosomal recessive variants leading to a complete loss of function cause the more severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome (AA/RRS; MIM# 276820) [72].