EN1-related dorsoventral syndrome
A human mesomelic and rhizo-mesomelic dysplasia characterized by marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures.
MONDO:0003847
hereditary disease
is_a
ENDOVE syndrome
exact
ENDOVES
exact
SPAC1F3.07c