cutis laxa, autosomal dominant 3
An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has material basis in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0019571
autosomal dominant cutis laxa
is_a
MONDO:0100126
P5CS deficiency
is_a
ADCL3
exact
cutis laxa, autosomal dominant 3
exact
cutis laxa, autosomal dominant type 3
exact
SPAC17H9.13c SPAC821.11