Batten disease is an extremely rare and fatal autosomal recessive neurodegenerative disorder that begins in childhood.
Asperger syndrome (AS), also known as Asperger's, is a developmental disorder characterized by significant difficulties in social interaction and nonverbal communication, along with restricted and repetitive patterns of behavior and interests.
Pervasive developmental disorder not otherwise specified
A pervasive developmental disorder not otherwise specified (PDD-NOS) is one of the three autism spectrum disorders (ASD) and also one of the five disorders classified as a pervasive developmental disorder (PDD).
Tay–Sachs disease (also known as GM2 gangliosidosis or hexosaminidase A deficiency) is a rare autosomal recessive genetic disorder.
Rett syndrome (RTT), originally termed cerebroatrophic hyperammonemia, is a rare genetic postnatal neurological disorder of the grey matter of the brain that almost exclusively affects females but has also been found in male patients.
Leigh disease is a rare inherited neurometabolic disorder that affects the central nervous system.
Epilepsy is a group of neurological diseases characterized by epileptic seizures.
Alexander disease, also known as fibrinoid leukodystrophy, is a progressive and fatal neurodegenerative disease.
Canavan disease, also called Canavan-Van Bogaert-Bertrand disease, is an autosomal recessive degenerative disorder that causes progressive damage to nerve cells in the brain, and is one of the most common degenerative cerebral diseases of infancy.
Metachromatic leukodystrophy (MLD, also called Arylsulfatase A deficiency) is a lysosomal storage disease which is commonly listed in the family of leukodystrophies as well as among the sphingolipidoses as it affects the metabolism of sphingolipids.
Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare, often fatal degenerative disorder that affects the myelin sheath of the nervous system.
Not be confused with Aicardi-Goutières syndrome Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal abnormalities, and seizures in the form of infantile spasms.
Pervasive developmental disorder
The diagnostic category pervasive developmental disorders (PDD), as opposed to specific developmental disorders (SDD), refers to a group of five disorders characterized by delays in the development of multiple basic functions including socialization and communication.
Adrenoleukodystrophy (/-ˌlu-koʊ-ˈdis-trə-fiː/; also known as X-linked adrenoleukodystrophy, ALD, X-ALD, Siemerling–Creutzfeldt disease or bronze Schilder disease) is a disease that is linked on the X chromosome.
Dravet syndrome, also known as severe myoclonic epilepsy of infancy (SMEI), is a type of epilepsy with seizures that are often triggered by hot temperatures or fever.
Childhood disintegrative disorder
The childhood disintegrative disorder (CDD), also known as Heller's syndrome and disintegrative psychosis, is a rare condition characterized by late onset of developmental delays—or stunning reversals—in language, social function, and motor skills.
Neonatal encephalopathy (NE), also known as hypoxic ischemic encephalopathy (HIE), is defined by signs and symptoms of abnormal neurological function in the first few days of life in an infant born at term.
Stereotypic movement disorder
Stereotypic movement disorder (SMD) is a motor disorder with onset in childhood involving repetitive, nonfunctional motor behavior (e.g., hand waving or head banging), that markedly interferes with normal activities or results in bodily injury.