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GENATLAS PHENOTYPE
last update : 04-01-2021
Symbol SRPS5
Location 2p24.1
Name short rib-polydactyly syndrome, type V
Other name(s) short-rib thoracic dysplasia-7
Corresponding gene WDR35
Other symbol(s) SRTD7
Main clinical features
  • severe form of short rib-polydactyly syndrome
  • associated with acromesomelic hypomineralization and campomelia, and several additional hallmarks of ciliopathic disease, including polysyndactyly, laterality defects, and cystic kidneys, and in any cases extreme micromelia, postaxial polydactyly, and facial abnormalities
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    kidney and urinary tract
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function complete loss of function of WDR35, resulting in profound ciliogenesis defects
    Remark(s) . copy number variation (CNV) of WDR35 may lead to skeletal dysplasia and fetal anomaly (PMID: 30790652))