Rare Disease Library

Cryptogenic late-onset epileptic spasms

Late-onset infantile spasms

Glycogen storage disease due to acid maltase deficiency, infantile onset

Glycogenosis type II, infantile onset · Glycogen storage disease type II, infantile onset

Infantile epileptic spasms syndrome

IESS

Infantile-onset spinocerebellar ataxia

IOSCA · Ohaha syndrome

LAMB2-related infantile-onset nephrotic syndrome

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, late infantile form

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

OBSOLETE: Late infantile neuronal ceroid lipofuscinosis

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

Proximal spinal muscular atrophy type 1

Infantile spinal muscular atrophy · Infantile-onset spinal muscular atrophy