Conditions / Syndrome

Warburg micro syndrome 4

info · Syndrome · ICD-10: Q87.0

A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TBC1D20 gene on chromosome 20p13.

Signs and symptoms

  • Decreased motor nerve conduction velocity
  • Inability to walk
  • Short stature
  • Developmental cataract
  • Severe postnatal growth retardation
  • Micropenis
  • Delayed speech and language development
  • Secondary microcephaly
  • Visual impairment
  • Cryptorchidism

Also known as: Micro Syndrome 4; WARBM4