Warburg Micro syndrome
| Warburg Micro syndrome | |
|---|---|
| Other names | A complex Hereditary Spastic Paraplegia, RAB 18 Deficiency |
| Symptoms | congenital cataract, progressive spasticity, intellectual or developmental disability, weak core, nonverbal or limited speech, small head, small eyes, optic atrophy, and hypogenitalism |
| Usual onset | cataracts appear at birth, delayed milestones evident by 4-6 months |
| Diagnostic method | symptom based, genetic testing |
| Treatment | Supportive care |
| Frequency | 144 cases reported in literature |
Warburg Micro syndrome (WARBM), a Complex Hereditary Spastic Paraplegia or RAB18 Deficiency, is a rare autosomal recessive genetic disorder characterized by congenital cataract, hypotonia, spastic diplegia, intellectual or developmental disability, microcephaly, microcornea, optic atrophy, and hypogenitalism.