Neonatal or early infantile onset |
Aminoacidurias and organic acidurias |
Urea cycle disorders |
Galactosemia |
Connatal Pelizaeus-Merzbacher disease |
Connatal Alexander disease |
Congenital sialidosis |
Early-onset mitochondrial cytopathies |
Canavan disease |
Aicardi-Goutières syndrome |
Infantile Gaucher disease |
Infantile adrenoleukodystrophy |
Zellweger syndrome |
Neonatal adrenoleukodystrophy |
Chondrodysplasia punctata |
Infantile Refsum disease |
GMI gangliosidosis (infantile variant) |
I-cell disease (mucolipidosis II) |
Trichopoliodystrophy (Menkes) |
Cerebro-oculo-facial-skeletal syndrome (COFS syndrome) |
Neurocutaneous syndromes |
Progressive spinal muscular atrophy (Werdnig-Hoffmann disease) |
Seckel bird-headed dwarfism |
Infantile onset |
Aminoacidurias, organic acidurias, urea cycle disorders with partial enzyme deficiency |
Many sphingolipidoses, mucopolysaccharidoses, mucolipidoses |
Infantile ceroid lipofuscinosis |
Leigh syndrome (early types) |
Other mitochondrial cytopathies |
Lesch-Nyhan syndrome |
Sjögren-Larson syndrome |
Canavan disease |
Wolman disease |
Alexander disease |
Pelizaeus-Merzbacher disease |
Neuroaxonal dystrophy |
Alpha-N-acetylgalactosaminidase deficiency |
Infantile PKAN (Hallervorden-Spatz disease) |
Infantile fucosidosis |
Nephrosialidosis |
Sialidosis |
Pompe disease |
Xeroderma pigmentosum neurologic disease |
Cockayne disease |
Infantile galactosialidosis |
Progeria |
Rett syndrome |
Onset in preschool years |
Aminoacidurias, organic acidurias, urea cycle disorders with partial enzyme deficiency |
Aspartylglucosaminuria |
Marinesco-Sjögren syndrome |
Alexander disease |
Ataxia telangiectasia |
Xeroderma pigmentosum neurologic disease |
Chédiak-Higashi disease |
Metachromatic leukodystrophy |
Late infantile gangliosidoses |
Niemann-Pick disease, Nova Scotia variant |
Late infantile ceroid lipofuscinoses |
Sanfilippo syndromes |
Maroteaux-Lamy disease |
Mild Hunter disease |
Leigh syndrome and other mitochondrial cytopathies |
Kearns-Sayre syndrome |
Disintegrative psychosis |
Other autistic regression |
Leukodystrophy with vanishing white matter |
Onset in school age or adolescence |
Wilson disease |
Acute intermittent porphyria |
Juvenile ceroid lipofuscinosis |
Adrenoleukodystrophy |
Late variants of the gangliosidoses |
Niemann-Pick type C disease |
Sialidosis with cherry-red spot myoclonus (variants with and without chondrodystrophy) |
Fabry disease |
Cerebrotendinous xanthomatosis |
Leigh syndrome (some variants) |
Other mitochondrial cytopathies (e.g., MERRF and MELAS syndromes) |
Refsum disease |
Friedreich ataxia |
Bassen-Kornzweig disease |
Other spinocerebellar degenerations |
Primary generalized dystonia (DYT1) |
Juvenile Huntington disease |
Juvenile parkinsonism |
Classic Hallervorden-Spatz disease (PKAN) |
Lafora disease |
Baltic myoclonus |
Subacute sclerosing panencephalitis (SSPE) |
Cockayne disease (late variants) |
Xeroderma pigmentosum neurologic disease (late variants) |
