Liberfarb syndrome
A progressive disorder involving connective tissue, bone, retina, ear, and brain, characterized by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature.
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
LIBF
exact
Liberfarb syndrome
exact
short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
exact
spondyloepimetaphyseal dysplasia, Liberfarb Type
exact
SPBC16E9.18 SPAC25B8.03