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GENATLAS PHENOTYPE
last update : 14-05-2021
Symbol KINSSHIP
Location 2q11.2
Name horseshoe kidney, Nievergelt/Savarirayan type of mesomelic dysplasia, seizures, hypertrichosis, intellectual disability, and pulmonary involvement syndrome
Corresponding gene AFF3
Main clinical features
  • developmental delay, intellectual disability, seizures, dysmorphic facial features, mesomelic dysplasia, horseshoe or hypoplastic kidney, and failure to thrive
  • often associated with microcephaly, global brain atrophy and/or ventriculomegaly, hypertrichosis
  • fibular hypoplasia, vertebral and bone mineralization defects, scoliosis, horseshoe or hypoplastic kidney, abnormalities of muscle tone, gastroesophageal reflux disease or other gastrointestinal symptoms, also respiratory difficulties/pulmonary involvements
  • Genetic determination autosomal dominant
    Function/system disorder kidney and urinary tract
    mental retardation
    osteo-articular
    neurology
    Type disease
    Remark(s)