Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 11-09-2019
Symbol NDDEA
Location 2q12.1
Name neurodevelopmental disorder with ears anomalies
Corresponding gene POU3F3
Main clinical features
  • developmental delay (DD) and/or intellectual disability with cupped, prominent and/or low-set ears, speech delay (delayed onset of producing first words), hypotonia, mild to moderate delays in neurodevelopment, epilepsy
  • also autism spectrum disorder (ASD), delays in both fine and gross motor development
  • facial dysmorphy with open-mouth appearance, a broad and bulbous nasal tip, hypertelorism, epicanthal folds, and peri-orbital fullness
  • at MRI, delayed myelination, cerebral atrophy, and corpus callosum abnormalities
  • Genetic determination
    Function/system disorder ear
    mental retardation
    Type disease