Diseases by Onset
DISEASE
ONSET
Zellweger syndrome
Prenatal
Acyl-CoA oxidase deficiency (Pseudoneonatal adrenoleukodystrophy)
Prenatal
Bifunctional protein deficiency
Prenatal
Rhizomelic chondrodysplasia punctata type 3 (RCDP3)
Prenatal
Contiguous ABCD1/DXS1375E deletion syndrome
Prenatal
Mulibrey nanism
Perinatal
Sjogren-Larsson syndrome
At birth or soon after
Infantile Refsum disease
less than 1 year
Rhizomelic chondrodysplasia punctata type 2 (RCDP2)
less than 1 year
Neonatal adrenoleukodystrophy
1 year
Rhizomelic chondrodysplasia punctata type 1 (RCDP1 )
1 year
Glutaric aciduria type III
1 year
Malonic aciduria
early childhood (5 years)
Hyperoxaluria type I
before 5 years
X-linked adrenoleukodystrophy
3-10 years for childhood ALD (CCALD), 20-40 years for adult adrenomyeloneuropathy (AMN)
Xanthinuria
childhood (1 -20 years)
Adult-onset sensory motor neuropathy
childhood and adult
Refsum disease
20 years
Amyotrophic lateral sclerosis, ALS1
onset variable 19-46 years
Acatalasemia
Adult
Glomerulosclerosis
Only in mouse
Mental retardation X-linked 63, MRX63
No Onset found