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Geroderma osteodysplastica

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Name:
Geroderma osteodysplastica
Description:
Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.
ORPHAcode:
2078
XREF(s):
Orphanet
ICD-10
OMIM
MeSH
Analyte(s):
GORAB
PYCR1
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