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Lethal osteosclerotic bone dysplasia

Disease Export to PDF
Name:
Lethal osteosclerotic bone dysplasia
Description:
A rare disorder defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.
ORPHAcode:
1832
Synonyms:
Raine syndrome
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
FAM20C
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Genetic disorders of Calcium and Phosphate metabolism (31 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AIRE 95.00 0 NM_000383.4/ interpretable range CS1>95%
    ALPL 95.00 0 NM_000478.6/ interpretable range CS1>95%
    AP2S1 95.00 0 NM_004069.6/ interpretable range CS1>95%
    CASR 95.00 0 NM_000388.4/ interpretable range CS1>95%
    CDC73 95.00 0 NM_024529.5/ interpretable range CS1>95%
    CDKN1B 95.00 0 NM_004064.5/ interpretable range CS1>95%
    CLCN5 95.00 0 NM_000084.5/ interpretable range CS1>95%
    CYP27B1 95.00 0 NM_000785.4/ interpretable range CS1>95%
    CYP2R1 95.00 0 NM_024514.5/ interpretable range CS1>95%
    DMP1 95.00 0 NM_004407.4/ interpretable range CS1>95%
    ENPP1 95.00 0 NM_006208.3/ interpretable range CS1>95%
    FAM20C 95.00 0 NM_020223.4/ interpretable range CS1>95%
    FGF23 95.00 0 NM_020638.3/ interpretable range CS1>95%
    GATA3 95.00 0 NM_001002295.2/ interpretable range CS1>95%
    GCM2 95.00 0 NM_004752.4/ interpretable range CS1>95%
    GNA11 95.00 0 NM_002067.5/ interpretable range CS1>95%
    GNAS 95.00 0 NM_000516.7/ interpretable range CS1>95%
    HADHA 95.00 0 NM_000182.5/ interpretable range CS1>95%
    HADHB 95.00 0 NM_000183.3/ interpretable range CS1>95%
    MEN1 95.00 0 NM_130799.3/ interpretable range CS1>95%
    OCRL 95.00 0 NM_000276.4/ interpretable range CS1>95%
    PHEX 95.00 0 NM_000444.6/ interpretable range CS1>95%
    PTH 95.00 0 NM_000315.4/ interpretable range CS1>95%
    PTH1R 95.00 0 NM_000316.3/ interpretable range CS1>95%
    RET 95.00 0 NM_020975.6/ interpretable range CS1>95%
    SLC34A1 95.00 0 NM_003052.5/ interpretable range CS1>95%
    SLC34A3 95.00 0 NM_080877.3/ interpretable range CS1>95%
    NHERF1 95.00 0 NM_004252.5/ interpretable range CS1>95%
    STX16 95.00 0 NM_001001433.3/ interpretable range CS1>95%
    TBCE 95.00 0 NM_003193.5/ interpretable range CS1>95%
    VDR 95.00 0 NM_001017535.2/ interpretable range CS1>95%