ALDH18A1-related de Barsy syndrome

Definition

ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity.

Also known as ARCL3A, Delta-1-pyrroline 5-carboxylate synthetase deficiency, neurocutaneous syndrome, Bicknell type — per MONDO

Also identified as

• DOID 0070132 per MONDO
• ICD9 371.89 per MONDO
• OMIM 219150 per MONDO
• Orphanet 35664 per MONDO
• SCTID 59252009 per MONDO
• UMLS C5234852 per MONDO