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disease: Cutis laxa-corneal clouding-oligophrenia syndrome

id917
nameCutis laxa-corneal clouding-oligophrenia syndrome
variant-disease NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln) AND Cutis laxa-corneal clouding-oligophrenia syndrome
NM_002860.4(ALDH18A1):c.1802-2_1924-901del AND Cutis laxa-corneal clouding-oligophrenia syndrome
NM_002860.4(ALDH18A1):c.2345A>G (p.Tyr782Cys) AND Cutis laxa-corneal clouding-oligophrenia syndrome
NM_002860.4(ALDH18A1):c.2350C>T (p.His784Tyr) AND Cutis laxa-corneal clouding-oligophrenia syndrome
NM_002860.4(ALDH18A1):c.2131del (p.Leu711fs) AND Cutis laxa-corneal clouding-oligophrenia syndrome
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