Conditions / Syndrome
Warburg micro syndrome 2
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 RAB3GAP2 gene on chromosome 1q41.
Signs and symptoms
- Clinodactyly of the 4th toe
- Global brain atrophy
- Short nose
- Hypotonia
- Asymmetry of the ears
- Cataract
- Clinodactyly of the 5th toe
- Microcephaly
- Absent speech
- Hypoplasia of the corpus callosum
Also known as: Micro Syndrome 2; WARBM2