Neurological

Acrodermatitis enteropathica

Adrenoleukodystrophy

Alexander disease

Alternating hemiplegia

Alzheimer disease

Amyloidosis

Amyotrophic lateral sclerosis

Argininemia

Ataxia + isolated vitamin E deficiency (AVED)

Ataxia and oculomotor apraxia

Ataxia, spastic, autosomal recessive

Ataxia-telangiectasia-like disorder

Basal ganglia calcification, idiopathic

Basilar migraine

Benign familial infantile seizures

Boucher-Neuhauser syndrome

CAPOS syndrome

Cerebellar ataxia

Cerebrotendinous xanthomatosis

Charcot-Marie-Tooth disease

Chorea, hereditary, benign

Choreoathetosis, hypothyroidism and neonatal respiratory distress

Cognitive impairment with or without cerebellar ataxia

Complex II deficiency

Congenital indifference to pain

Congenital insensitivity to pain

Cortical dysplasia

Dejerine-Sottas Disease

Dopamine beta-hydroxylase deficiency

Dyskinesia

Dystonia

Dystonia, dopamine responsive

Epilepsy (WES)

Epilepsy with neurodevelopmental defects (EPND)

Epilepsy, Idiopathic

Epilepsy, myoclonic

Episodic ataxia

Episodic kinesigenic dyskinesia

Episodic pain syndrome

Erythermalgia, primary or idiopathic

Familial infantile convulsions with paroxysmal choreoathetosis

Febrile seizures

Fragile-X associated tremor ataxia syndrome

Friedreich Ataxia

Frontotemporal dementia

GLUT1 deficiency syndrome

Hemiplegic migraine

Huntington disease

Hyperlysinemia

Hypomyelinating leukodystrophy

Hypotonia

Inflammatory demyelinating neuropathy

Kufor-Rakeb syndrome

Lissencephaly

Marinesco-Sjögren syndrome

Menkes disease

Mitochondrial disorders (WES)

Motor neuropathy

Movement disorders (WES)

Multiple sulfatase deficiency

Muscle disorders (WES)

Neurodegeneration due to cerebral folate transport deficiency

Neurodegeneration with brain iron accumulation

Neurofibromatosis

Neurological pain disorders (WES)

Neuropathies (WES)

Painful neuropathy

Painless peripheral neuropathies (WES)

Parkinson disease (WES)

Parkinson's disease

Paroxysmal extreme pain disorder

Polymicrogyria

Polyneuropathy

Pontocerebellar hypoplasia

Porencephaly, aut. dominant

Primary lateral sclerosis

Recurrent neuropathy with pressure palsies

Rigidity and multifocal seizure syndrome

Ritscher-Schinzel syndrome

Roussy-Levy syndrome

Sandhoff disease

Sensory neuropathy

SeSAME syndrome

Short-rib thoracic dysplasia

Sjogren-Larsson syndrome

Small fiber neuropathy

Spastic paralysis, infantile onset ascending (IAHSP)

Spastic paraplegia, aut. recessive

Spastic paraplegia, autosomal dominant

Spastic paraplegia, autosomal recessive

Spastic quadriplegic cerebral palsy

Spinal muscular atrophy

Spinocerebellar ataxia, aut. dominant

Spinocerebellar ataxia, autosomal recessive

Tay Sachs disease

Thiamine metabolism dysfunction syndrome

Wilson disease