Mental Retardation X Linked 12 (MRX12) (MRX35) – 19 Symptoms and Signs

What is Mental Retardation X Linked 12 ( MRX12 ) (MRX35)

Mental Retardation X Linked 12 is a rare genetic disorder due to a mutation in THOC2

Synonyms

  • X-linked intellectual disability, Gu type
  • MRX35
  • MRX12

Inheritance

This condition is X linked recessive inheritance

Etiology

This condition is caused by mutation in the THO complex, subunit 2 gene (THOC2)

Symptoms and Signs

  1. speech delay,
  2. Mental retardation
  3. short stature,
  4. elevated body mass index (BMI)
  5. truncal obesity pattern in older males
  6. hypotonia,
  7. tremor,
  8. gait disturbances,
  9. behavioral problems
  10. seizure disorders
  11. intellectual disability
  12. mild ventriculomegaly
  13. gliosis,
  14. inferior cerebellar vermis dysplasia,
  15. cervical cord compression
  16. microcephaly
  17. microorchidism and/or microphallus
  18. dysmorphic facial features
  19. Cerebellar hypoplasia

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