Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 02-02-2022
Symbol NEDCFSA
Location 17p13.1
Name neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
Corresponding gene KDM6B
Main clinical features
  • characterized by mildly impaired global development apparent from infancy, poor speech acquisition, hypotonia with early feeding difficulties, mildly delayed walking, and variable behavioral abnormalities, such as autistic features, hyperactivity, or attention deficits
  • coarse facial features, including prominent forehead, large ears, and wide mouth; also wide hands, thickened fingers, and cutaneous toe syndactyly, as well as joint hyperlaxity
  • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    neurology
    Type disease
    Remark(s)