ALDH18A1-related de Barsy syndrome
ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity.
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0017569
de Barsy syndrome
is_a
MONDO:0100126
P5CS deficiency
is_a
MONDO:0100237
inherited cutis laxa
is_a
ARCL3A
exact
Delta-1-pyrroline 5-carboxylate synthetase deficiency
exact
P5CS deficiency
broad
cutis laxa, autosomal recessive, type IIIA
related
cutis laxa, corneal clouding, and mental retardation
related
neurocutaneous syndrome, Bicknell type
exact
SPAC821.11 SPAC17H9.13c