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ALDH18A1-related De Barsy syndrome

Disease Export to PDF
Name:
ALDH18A1-related De Barsy syndrome
Description:
A rare, genetic, neurometabolic disease characterized by prenatal and postnatal growth retardation, hypotonia, failure to thrive, large and late-closing fontanel, development delay, cutis laxa, joint laxity, progeroid appearance, and dysmorphic facial features. In addition, corneal opacities, cataracts, myopia, seizures, hyperreflexia and athetoid movements have also been associated.
ORPHAcode:
35664
Synonyms:
Delta-1-pyrroline 5-carboxylate synthetase deficiency
Neurocutaneous syndrome, Bicknell type
P5CS deficiency
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
ALDH18A1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14