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GENATLAS PHENOTYPE
last update : 10-09-2019
Symbol NDDNA
Location 12q24.32
Name neurodevelopmental disorder, with neurologic anomalies
Corresponding gene DHX37
Main clinical features
  • developmental delay and/or intellectual disability
  • central nervous system (CNS) anomalies, with seizures, congenital and non-progressive impairment of eye
  • hypotonia, vertebral anomalies, and dysmorphic features
  • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    eye
    neurology
    Type disease
    Remark(s)