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.
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Neu-Laxova syndrome
MONDO:0000179
inborn mitochondrial metabolism disorder
MONDO:0004069
cutis laxa, autosomal dominant 1
MONDO:0007411
Ehlers-Danlos syndrome, spondylodysplastic type
MONDO:0007526
MGAT2-congenital disorder of glycosylation
MONDO:0008908
ALDH18A1-related de Barsy syndrome
MONDO:0009053