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References OMIM Gene GeneReviews HGMD HGNC
last update : 09-04-2019
Location 12p13.31
Name congenital hypotonia, epilepsy, developmental delay, digit abnormalities
Corresponding gene ATN1
Main clinical features
  • feeding difficulties, seizures, distinctive facial features, and severe to profound global developmental delay and/or intellectual disability, truncal hypotonia, global motor disability, and very limited verbal communication
  • facial features include tall foreheads with bitemporal narrowing, sparsity of the lateral forehead hair, a bulbous, slightly overhanging nasal tip, longer philtrum; prominent columella, and a thin upper lip
  • cardiac malformations, including atrial and ventricular septal defects, hand and foot features were overlapping toes, camptodactyly, persistent fetal fingertip pads, and abnormalities of the palmar creases
  • Genetic determination not applicable
    Function/system disorder cardiovascular
    mental retardation
    Type malformation
    Remark(s) . results from perturbation of the structural and functional integrity of the HX repeat (PMID: 30827498))