| Subtype | Typical onset | Core neurologic features | Core dermatologic/systemic features | Key lab/biomarker findings | Example features from case reports | Suggested HPO terms |
|---|---|---|---|---|---|---|
| Type I (infantile Schindler disease) | Normal development for first 9-12 months; developmental delay/regression begins in the second year of life; severe progression by age 3-4 years (pqac-00000054, pqac-00000053, pqac-00000050) | Rapid psychomotor regression; developmental regression; cortical blindness; myoclonic seizures/convulsions; spasticity; decorticate posturing; profound psychomotor retardation; neuroaxonal dystrophy with axonal spheroids (pqac-00000054, pqac-00000053, pqac-00000051, pqac-00000050) | Childhood death, typically before age 6 years; urinary glycopeptide/oligosaccharide excretion; no prominent dermal vacuolization in some severe infantile cases (pqac-00000050, pqac-00000052, pqac-00000054) | Markedly reduced α-NAGA activity, usually <1% of normal; urinary glycopeptides/oligosaccharides with α-GalNAc moieties; glycopeptiduria/abnormal urinary oligosaccharides (pqac-00000054, pqac-00000052) | Two affected German brothers with infantile neuroaxonal dystrophy and E325K homozygosity; one additional severe patient died during convulsions (pqac-00000054, pqac-00000052) | Developmental regression; Psychomotor regression; Cortical blindness; Myoclonic seizures; Spasticity; Decorticate posturing; Neuroaxonal dystrophy; Profound intellectual disability; Childhood death; Abnormal urinary oligosaccharide excretion |
| Type II (Kanzaki disease; adult-onset) | Adult/late-onset; exact age variable; adult presentations reported including age 68 years; frequency not reported (pqac-00000050, pqac-00000052, pqac-00000056) | Peripheral neuropathy/polyneuropathy; sensorineural hearing loss; recurrent vertigo; mild cognitive impairment or mild intellectual disability; some reports note no overt neurologic manifestations, reflecting variable expressivity (pqac-00000050, pqac-00000055, pqac-00000051, pqac-00000056) | Angiokeratoma corporis diffusum; chronic lymphedema/lymphoedema; vacuolization in vascular and lymphatic endothelial cells, eccrine sweat gland cells, fibroblasts, dermal neural cells; possible cardiomegaly/interventricular septal hypertrophy; bilateral carpal tunnel syndrome; lymphadenopathy reported in review literature (pqac-00000050, pqac-00000052, pqac-00000055, pqac-00000056) | Diminished α-NAGA activity in blood; urine glycopeptiduria/abnormal urinary oligosaccharides; lysosomal Tn-antigen accumulation in fibroblasts; genetic confirmation by NAGA testing (pqac-00000055, pqac-00000051) | 68-year-old man with axonal and demyelinating polyneuropathy, sensorineural hearing loss, chronic lymphedema, angiokeratoma corporis diffusum, and bilateral carpal tunnel syndrome; homozygous c.577G>T (p.Glu193*) (pqac-00000050, pqac-00000055) | Angiokeratoma corporis diffusum; Peripheral neuropathy; Polyneuropathy; Sensorineural hearing impairment; Vertigo; Lymphedema; Mild intellectual disability; Cardiomegaly; Ventricular septal hypertrophy; Carpal tunnel syndrome; Glycopeptiduria |
| Type III (intermediate) | Intermediate between infantile and adult forms; detailed age range not reported (pqac-00000050, pqac-00000053) | Intermediate severity; specific neurologic phenotype not reported in retrieved evidence (pqac-00000050, pqac-00000053) | Intermediate phenotype between severe infantile neurodegeneration and milder adult angiokeratoma/lymphoedema spectrum; specific systemic findings not reported (pqac-00000050, pqac-00000053) | Presumed α-NAGA deficiency and urinary glycopeptide/oligosaccharide abnormalities as part of Schindler spectrum, but subtype-specific biomarker pattern not reported in retrieved evidence (pqac-00000042, pqac-00000049) | No detailed individual type III case description found in retrieved evidence; frequency not reported (pqac-00000050, pqac-00000053) | Abnormality of the nervous system; Abnormality of the skin; Abnormal urinary oligosaccharide excretion; Phenotypic variability |


*Table: This table summarizes the phenotype spectrum of Schindler disease across type I, type II/Kanzaki, and type III presentations using only supported evidence snippets. It is useful for subtype-aware curation of onset, neurologic and systemic manifestations, biomarkers, and candidate HPO mappings.*