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References OMIM Gene GeneReviews HGMD HGNC
last update : 03-01-2019
Location 17q25.1
Name mental retardation, heart and facial defect
Corresponding gene TMEM94
Main clinical features
  • global developmental delay/intellectual disability, and dysmorphic facial features including triangular face, deep set eyes, broad nasal root and tip and anteverted nostrils, thick arched eye brows, hypertrichosis, pointed chin, synophrys, a long philtrum, posteriorly rotated ears with prominent ear lobes and hypertelorism, frequent heart defect
  • severe scoliosis, with large hands, generalized hypotonia, pectus excavatum, and numerous boggy subcutaneous lesions
  • in any cases shawl scrotum, distal hypospadias, ophthalmological features including nystagmus and strabismus
  • Genetic determination autosomal recessive
    Function/system disorder cardiovascular
    mental retardation
    Type disease