Conditions / Syndrome
Warburg micro syndrome 3
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 RAB18 gene on chromosome 10p12.
Signs and symptoms
- Inability to walk
- Microcornea
- Cataract
- Miosis
- Postnatal growth retardation
- Axial hypotonia
- Global developmental delay
- Secondary microcephaly
- Microphthalmia
- Optic atrophy
Also known as: Micro Syndrome 3; WARBM3