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Woodhouse-Sakati syndrome

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Name:
Woodhouse-Sakati syndrome
Description:
Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.
ORPHAcode:
3464
Synonyms:
Diabetes-hypogonadism-deafness-intellectual disability syndrome
Diabetes-hypogonadism-hearing loss-intellectual disability syndrome
XREF(s):
Orphanet
ICD-10
MeSH
OMIM
Analyte(s):
DCAF17
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Neurodegeneration with Brain Iron Accumulation (NBIA) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AP4M1 100.00 1
    ATP13A2 100.00 1
    C19ORF12 100.00 1
    COASY 100.00 1
    CP 100.00 1
    CRAT 100.00 1
    DCAF17 100.00 1
    DDHD1 100.00 1
    FA2H 100.00 1
    FTL 100.00 1
    GTPBP2 100.00 1
    PANK2 100.00 1
    PLA2G6 100.00 1
    SCP2 100.00 1
    WDR45 100.00 1
    REPS1 100.00 1