has material basis in germline mutation in disease has major feature DLX5 Ectrodactyly split hand-foot malformation 1 with sensorineural hearing loss https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/6877 https://www.malacards.org/card/split_hand_foot_malformation_1_with_sensorineural_hearing_loss_2 https://www.malacards.org/card/split_hand_foot_malformation_1_with_sensorineural_hearing_loss_autosomal_recessive Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. UMLS:C1857344 DO classifies under split hand-foot malformation, but we enforce disjointness between syndromes and features DOID:0090024 MESH:C565647 GARD:0016686 Orphanet:71271 split hand-foot malformation 1 with sensorineural hearing loss split-hand/foot malformation 1 with sensorineural hearing loss MONDO:0009080 MEDGEN:347431 SCTID:723611008 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive SHFM1D OMIM:220600 multiple congenital anomalies/dysmorphic syndrome without intellectual disability skeletal dysplasia dysostosis congenital limb malformation