Rare Disease Library

Metachromatic leukodystrophy, late infantile form

Arylsulfatase A deficiency, late infantile form · MLD, late infantile form

Alpha-mannosidosis, infantile form

Lysosomal alpha-D-mannosidase deficiency, infantile form

Carnitine palmitoyl transferase II deficiency, severe infantile form

CPT2, hepatocardiomuscular form · CPT2, severe infantile form

Cryptogenic late-onset epileptic spasms

Late-onset infantile spasms

GM1 gangliosidosis type 2

Juvenile GM1 gangliosidosis · Late-infantile GM1 gangliosidosis

Infantile glycine encephalopathy

Infantile NKH · Infantile non-ketotic hyperglycinemia

Late infantile CACH syndrome

Late infantile CLN1 disease

Late infantile neuronal ceroid lipofuscinosis type 1

Late infantile CLN10 disease

Late infantile neuronal ceroid lipofuscinosis type 10

Late infantile CLN2 disease

Infantile neuronal ceroid lipofuscinosis type 2

Late infantile CLN5 disease

Late infantile neuronal ceroid lipofuscinosis type 5

Late infantile CLN6 disease

Late infantile neuronal ceroid lipofuscinosis type 6

Late infantile CLN8 disease

Late infantile neuronal ceroid lipofuscinosis type 8

Metachromatic leukodystrophy, juvenile form

Arylsulfatase A deficiency, juvenile form · MLD, juvenile form

OBSOLETE: Late infantile neuronal ceroid lipofuscinosis

OBSOLETE: Late infantile NCL · OBSOLETE: Jansky-Bielschowsky disease

Sandhoff disease, infantile form

GM2 gangliosidosis, Sandhoff variant, infantile form · GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form

Tay-Sachs disease, infantile form

Beta-hexosaminidase subunit alpha deficiency, infantile form · GM2 gangliosidosis, Tay-Sachs variant, infantile form