An inborn error of proline/orinthine metabolism that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene. These variants lead to a variety of neurocutaneous and motor syndromes characterized by cutis laxa, connective tissue weakness, facial dysmorphism, growth restriction, developmental delay, cataracts, hypotonia, hypertonia, and amyotrophy.
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ALDH18A1-related de Barsy syndrome
MONDO:0009053
ornithine aminotransferase deficiency
MONDO:0009796
autosomal recessive complex spastic paraplegia type 9B
MONDO:0014702
cutis laxa, autosomal dominant 3
MONDO:0014706
autosomal dominant spastic paraplegia type 9
MONDO:0015091
autosomal recessive cutis laxa type 2
MONDO:0019573