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References OMIM Gene GeneReviews HGMD HGNC
last update : 04-01-2021
Symbol CETD2
Location 2p24.1
Name cranioectodermal dysplasia 2
Other name(s) Sensenbrenner syndrome
Corresponding gene WDR35
Main clinical features
  • dolichocephaly, sparse, slow-growing, fine hair, epicanthal folds, hypodontia and/or microdontia, brachydactyly, and narrow thorax with normal intelligence
  • pre- and postnatal growth retardation, microcephaly, hypoplasia of the posterior corpus callosum, photophobia, and aberrant calcium homeostasis
  • associated with symptomatic photoreceptor dystrophy and chronic renal failure
  • Genetic determination autosomal recessive
    Function/system disorder dermatology
    Type disease
    Gene product
    Name naofen
    Remark(s) . copy number variation (CNV) of WDR35 may lead to skeletal dysplasia and fetal anomaly (PMID: 30790652))