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  2. Autosomal recessive cutis laxa type 2, classic type

Autosomal recessive cutis laxa type 2, classic type

Disease Export to PDF
Name:
Autosomal recessive cutis laxa type 2, classic type
ORPHAcode:
357074
Synonyms:
ARCL2, Debré type
ARCL2, classic type
Autosomal recessive cutis laxa type 2, Debré type
XREF(s):
Orphanet
ICD-10
OMIM
OMIM
OMIM
Analyte(s):
ATP6V1E1
ATP6V1A
ATP6V0A2
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Cutis Laxa / Geroderma osteodysplasticum - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ALDH18A1 100.00 1
    ATP6V0A2 100.00 1
    ATP7A 100.00 1
    COG7 100.00 1
    EFEMP2 100.00 1
    ELN 100.00 1
    FBLN5 100.00 1
    GORAB 100.00 1
    LTBP4 100.00 1
    NAA10 100.00 1
    PYCR1 100.00 1
    RIN2 100.00 1
    TALDO1 100.00 1
    ATP6V1A 100.00 1
    ATP6V1E1 100.00 1
    EFEMP1 100.00 1
    LOX 100.00 1
    LTBP1 100.00 1