arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.
MONDO:0019942
distal arthrogryposis
is_a
Arthogryposis with oculomotor limitation and electroretinal abnormalities
related
DA5
related
arthrogryposis ophthalmoplegia retinopathy
related
arthrogryposis with oculomotor limitation and electroretinal abnormalities
related
arthrogryposis, distal, type 5
related
arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
exact
distal arthrogryposis type 5
exact
distal arthrogryposis type IIB
exact
distal arthrogryposis with ophthalmoplegia
exact
oculomelic amyoplasia
exact