deafness-epiphyseal dysplasia-short stature syndrome
This syndrome is characterized by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit).
MONDO:0003847
hereditary disease
is_a
chitty-Hall-Baraitser syndrome
exact
deafness, epiphyseal dysplasia, short stature
related
deafness, femoral epiphyseal dysplasia, short stature and developmental delay
related