split hand-foot malformation 1 with sensorineural hearing loss
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.
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
MONDO:0018230
skeletal dysplasia
is_a
MONDO:0018234
dysostosis
is_a
MONDO:0019054
congenital limb malformation
is_a
SHFM1D
exact
split hand-foot malformation 1 with sensorineural hearing loss
exact
split-hand/foot malformation 1 with sensorineural hearing loss
exact
split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive
related