| Alzheimer disease |
3235 |
مشاهده
|
| Becker and. Duchenne Muscular Dystrophies |
Neu3147 |
مشاهده
|
| Familial Amyloidotic Polyneuropathy |
32341 |
مشاهده
|
| Friedreich Ataxia |
32343 |
مشاهده
|
| Frontotemporal Dementia |
32344 |
مشاهده
|
| Frontotemporal Dementia with Parkinsonism |
32345 |
مشاهده
|
| Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia |
32361 |
مشاهده
|
| Hyperkalemic Periodic Paralysis |
32358 |
مشاهده
|
| Infant Severe Myoclonic Epilepsy |
32362 |
مشاهده
|
| Oculocerebrorenal Syndrome (Lowe Syndrome) |
32392 |
مشاهده
|
| Menkes Disease |
32373 |
مشاهده
|
| Myotonia Congenita AD, Becker & Thomsen diseases |
32383 |
مشاهده
|
| Myotonic Dystrophy type 2 |
32384 |
مشاهده
|
| Nemaline Myopathy |
32385 |
مشاهده
|
| Neurofibromatosis type I |
Neu31528 |
مشاهده
|
| Neurofibromatosis type II |
Neu31529 |
مشاهده
|
| Oculopharyngeal Muscular Dystrophy |
32393 |
مشاهده
|
| Parkinson disease |
32398 |
مشاهده
|
| Spastic Paraplegia |
323109 |
مشاهده
|
| Spinal Muscular Atrophy |
Neu31751 |
مشاهده
|
| Spinocerebellar Ataxias |
323111 |
مشاهده
|
| Infantile-onset spinocerebellar ataxia |
32364 |
مشاهده
|
| Thrombophilia. markers |
Neu31533 |
مشاهده
|
| Tuberous Sclerosis |
323115 |
مشاهده
|
| Alstrom -Syndrome |
Neu3143 |
مشاهده
|
| Agnathia-Otocephaly |
Neu 3222 |
مشاهده
|
| Aicardi-Goutières Syndrome |
3233 |
مشاهده
|
| Familial Amyloidosis (hATTR) |
32340 |
مشاهده
|
| Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) |
3236 |
مشاهده
|
| Autosomal Recessive Spinocerebellar Ataxia Type 4 (SCAR4) |
3239 |
مشاهده
|
| Episodic Ataxia |
32338 |
مشاهده
|
| Ataxia with Oculomotor Apraxia |
Neu3204 |
مشاهده
|
| Autism Spectrum Disorders (ASD) |
3238 |
مشاهده
|
| Intellectual Disability, Epilepsy, and Autism (IDEA) |
32365 |
مشاهده
|
| Opitz G.BBB Syndrome |
32394 |
مشاهده
|
| Brain Malformation |
32311 |
مشاهده
|
| Brown-Vialetto-van Laere Syndrome and Fazio-Londe Disease |
Neu3149 |
مشاهده
|
| CADASIL1 via the NOTCH3 Gene |
32314 |
مشاهده
|
| CADASIL and CARASIL |
32313 |
مشاهده
|
| Cerebral Small Vessel Disease |
32315 |
مشاهده
|
| Neuronal Ceroid Lipofuscinoses (Batten Disease) |
32391 |
مشاهده
|
| Charcot-Marie-Tooth (CMT) - Axonal Neuropathy |
32316 |
مشاهده
|
| Charcot-Marie-Tooth (CMT) – Comprehensive |
32317 |
مشاهده
|
| Charcot-Marie-Tooth Disease and Distal Motor Neuropathy via the GBF1 Gene |
32318 |
مشاهده
|
| Chromosomal Instability Syndromes |
Neu3118 |
مشاهده
|
| Congenital Central Hypoventilation Syndrome (CCHS) |
Neu3196 |
مشاهده
|
| Congenital Myopathy |
32328 |
مشاهده
|
| Congenital Myopathy via the HACD1 |
32329 |
مشاهده
|
| Disorders of Copper Metabolism |
32332 |
مشاهده
|
| Dementia |
32330 |
مشاهده
|
| Developmental Delay |
32331 |
مشاهده
|
| Distal Myopathy |
32334 |
مشاهده
|
| Dystonia |
32335 |
مشاهده
|
| Infantile Parkinsonism-Dystonia |
32363 |
مشاهده
|
| Comprehensive Epilepsy and Seizure |
32324 |
مشاهده
|
| Early Infantile Epileptic Encephalopathy |
32337 |
مشاهده
|
| Galloway-Mowat Syndrome (GAMOS) |
Neu32117 |
مشاهده
|
| Glutaric Acidemia Type I via the GCDH Gene |
Neu31429 |
مشاهده
|
| Glutaric .Acidemia Type II |
Neu31430 |
مشاهده
|
| GLI3-Related Disorders via the GLI3 Gene |
Neu32218 |
مشاهده
|
| Familial Hemiplegic Migraine and Alternating Hemiplegia of Childhood |
32342 |
مشاهده
|
| Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine |
Neu31752 |
مشاهده
|
| Hirschsprung Disease (Non-syndromic) |
Neu31631 |
مشاهده
|
| Holoprosencephaly, Autosomal Dominant, Nonsyndromic |
32354 |
مشاهده
|
| Hydrocephalus |
32355 |
مشاهده
|
| Hyperammonemia |
Neu31444 |
مشاهده
|
| Ornithine .Transcarbamylase Deficiency via the OTC Gene |
Neu31466 |
مشاهده
|
| Hypoglycemia |
Neu31448 |
مشاهده
|
| X-Linked Intellectual Disability |
323120 |
مشاهده
|
| Kallmann Syndrome (KS) |
32366 |
مشاهده
|
| Leukodystrophy and Leukoencephalopathy |
32368 |
مشاهده
|
| Leukodystrophy and Leukoencephalopathy, Adult Onset |
32369 |
مشاهده
|
| Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy |
32370 |
مشاهده
|
| Lissencephaly |
32371 |
مشاهده
|
| Glycogen Storage Disease Type II (Pompe Disease) via the GAA Gene |
Neu31435 |
مشاهده
|
| Lysosomal Storage Disorders |
Neu31450 |
مشاهده
|
| Overgrowth and Macrocephaly Syndromes |
32397 |
مشاهده
|
| Methylmalonic. Acidemia |
Neu31457 |
مشاهده
|
| Primary Microcephaly, Autosomal Recessive |
323104 |
مشاهده
|
| Chronic Progressive External Ophthalmoplegia (CPEO.PEO) |
Neu3209 |
مشاهده
|
| Coenzyme Q10 Ubiquinone Deficiency |
32322 |
مشاهده
|
| Leigh and Leigh-Like Syndrome (Nuclear Genes Only) |
32367 |
مشاهده
|
| Mitochondrial Complex I Deficiency (Nuclear Genes) |
32375 |
مشاهده
|
| Mitochondrial Complex II Deficiency |
32376 |
مشاهده
|
| Mitochondrial Complex III Deficiency (Nuclear Genes) |
32377 |
مشاهده
|
| Mitochondrial Complex IV Deficiency (Nuclear Genes) |
32378 |
مشاهده
|
| Mitochondrial Complex V Deficiency (Nuclear Genes) |
32379 |
مشاهده
|
| Mitochondrial Disorders (Nuclear Genes Only) |
32380 |
مشاهده
|
| Mitochondrial Genome Maintenance-Integrity Nuclear Genes |
32381 |
مشاهده
|
| Mitochondrial Trifunctional Protein Deficiency & Long-Chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency |
32091 |
مشاهده
|
| Comprehensive Movement Disorders |
32325 |
مشاهده
|
| Idiopathic Basal Ganglia Calcification |
32360 |
مشاهده
|
| Dystroglycan-Related Congenital Muscular Dystrophy panel |
32336 |
مشاهده
|
| Type VI-Related Collagenopathy |
323116 |
مشاهده
|
| Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy |
32386 |
مشاهده
|
| Neurofibromatosis Type 1 and Legius Syndrome |
Neu32127 |
مشاهده
|
| Schwannomatosis |
Neu31159 |
مشاهده
|
| Comprehensive Neuropathy |
32326 |
مشاهده
|
| Distal Hereditary Motor Neuropathy |
32333 |
مشاهده
|
| Episodic Pain Syndrome |
32339 |
مشاهده
|
| Hereditary Sensory and Autonomic Neuropathy |
32351 |
مشاهده
|
| Hydroxyglutaric Aciduria |
32356 |
مشاهده
|
| Organic Aciduria |
Neu31465 |
مشاهده
|
| Polycystic. Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy |
Neu32233 |
مشاهده
|
| Parkinson Disease and Parkinsonism |
32399 |
مشاهده
|
| Peroxisomal Disorders |
Neu31467 |
مشاهده
|
| Pontocerebellar Hypoplasia |
323102 |
مشاهده
|
| Acute.Neurovisceral Porphyria |
3231 |
مشاهده
|
| Chronic.Cutaneous Porphyria |
32321 |
مشاهده
|
| Porphyria |
323103 |
مشاهده
|
| Noonan Spectrum Disorders.RASopathies |
Neu31742 |
مشاهده
|
| Rett Syndrome, Angelman Syndrome and Variant Syndromes |
323106 |
مشاهده
|
| Septo-optic Dysplasia Spectrum |
Neu32034 |
مشاهده
|
| Complex Hereditary Spastic Paraplegia |
32323 |
مشاهده
|
| Hereditary Spastic Paraplegia Comprehensive |
32352 |
مشاهده
|
| Pure Hereditary Spastic Paraplegia |
323105 |
مشاهده
|
| Stuttering |
323113 |
مشاهده
|
| Warburg _Micro Syndrome |
Neu32039 |
مشاهده
|
| Wolfram. Syndrome |
Neu32041 |
مشاهده
|
| WFS1-Related Disorders via the WFS1 Gene |
Neu32040 |
مشاهده
|