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References OMIM Gene GeneReviews HGMD HGNC
last update : 15-03-2017
Symbol IDOD
Location 17q24.2
Name intellectual disability, ophthalmologic anomalies, deafness
Corresponding gene PSMD12
Main clinical features
  • intellectual disability, congenital malformations, ophthalmologic anomalies, feeding difficulties, deafness, and subtle dysmorphic facial features
  • motor delay, speech delay, abnormal behavior, cardiac and genital anomalies, atrio- or ventriculoseptal defect, patent ductus arteriosus, a single or dysplastic kidney, hydronephrosis, or genital anomalies (hypospadias or cryptorchidism)
  • ophthalmologic anomalies, including strabismus, vision loss, and coloboma, skeletal abnormalities, including bilateral syndactyly of the second and third toes and thumb agenesis or hypoplasia
  • Genetic determination not applicable
    Function/system disorder mental retardation
    Type disease