Nervous System Diseases
Mandibulofacial dysostosis with microcephaly
Mannosidosis, beta A, lysosomal
Marchiafava Bignami disease
Marden-Walker syndrome
Marfanoid habitus-autosomal recessive intellectual disability syndrome
Marinesco-Sjogren syndrome
Martsolf syndrome
McDonough syndrome
McLeod neuroacanthocytosis syndrome
Meckel syndrome
MECP2 duplication syndrome
Medrano Roldan syndrome
Medulloblastoma
Megalencephalic leukoencephalopathy with subcortical cysts
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome
Megaloblastic anemia due to dihydrofolate reductase deficiency
Megalocornea-intellectual disability syndrome
Mehes syndrome
Meier-Gorlin syndrome
Meige syndrome
Melnick-Needles syndrome
Meningioma
Menkes disease
Mental retardation skeletal dysplasia abducens palsy
Mental retardation Smith Fineman Myers type
Mental retardation X-linked syndromic 7
Meralgia paresthetica
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
Methionine adenosyltransferase deficiency
Methylcobalamin deficiency cbl G type
Methylmalonic acidemia with homocystinuria type cblC
MGAT2-CDG (CDG-IIa)
Micro syndrome
Microbrachycephaly ptosis cleft lip
Microcephalic osteodysplastic primordial dwarfism type 1
Microcephalic osteodysplastic primordial dwarfism type 2
Microcephalic primordial dwarfism Toriello type
Microcephalic primordial dwarfism, Montreal type
Microcephaly
Microcephaly autosomal dominant
Microcephaly brain defect spasticity hypernatremia
Microcephaly cervical spine fusion anomalies
Microcephaly deafness syndrome
Microcephaly glomerulonephritis Marfanoid habitus
Microcephaly microcornea syndrome Seemanova type
Microcephaly pontocerebellar hypoplasia dyskinesia
Microcephaly, seizures, and developmental delay - See Early Infantile Epileptic Encephalopathy
Microcephaly-cardiomyopathy
Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome
Microduplication Xp11.22-p11.23 syndrome
Microphthalmia syndromic 10
Microphthalmia syndromic 4
Microphthalmia syndromic 8
Microphthalmia with linear skin defects syndrome
Microscopic polyangiitis
Migraine with brainstem aura
Mild phenylketonuria
Miller-Dieker syndrome
Miller-Fisher syndrome
Minicore myopathy with external ophthalmoplegia
Mitochondrial complex I deficiency
Mitochondrial complex II deficiency
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Mitochondrial DNA-associated Leigh syndrome
Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
Mitochondrial Membrane Protein-Associated Neurodegeneration
Mitochondrial myopathy with diabetes
Mitochondrial myopathy with lactic acidosis
Mitochondrial neurogastrointestinal encephalopathy syndrome
Mitochondrial trifunctional protein deficiency
Mixed connective tissue disease
Miyoshi myopathy
Moebius syndrome
MOGS-CDG (CDG-IIb)
Mohr-Tranebjaerg syndrome
Molybdenum cofactor deficiency
Monoamine oxidase A deficiency
Morse-Rawnsley-Sargent syndrome
Morvan's fibrillary chorea
Mousa Al din Al Nassar syndrome
Moyamoya disease
MPDU1-CDG (CDG-If)
MPI-CDG (CDG-Ib)
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
Mucolipidosis type 4
Mucopolysaccharidosis type III
Mucopolysaccharidosis type IIIA
Mucopolysaccharidosis type IIIB
Mucopolysaccharidosis type IIIC
Mucopolysaccharidosis type IIID
Multifocal motor neuropathy
Multiple congenital anomalies-hypotonia-seizures syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Multiple myeloma
Multiple sulfatase deficiency
Multiple system atrophy
Multisystemic smooth muscle dysfunction syndrome
Muscle eye brain disease
Muscular dystrophy white matter spongiosis
Muscular dystrophy, congenital, megaconial type
Muscular phosphorylase kinase deficiency
Musculocontractural Ehlers-Danlos syndrome
Myasthenia gravis
Myelocerebellar disorder
Myelomeningocele
MYH7-related scapuloperoneal myopathy
Myhre syndrome
Myoclonic epilepsy with ragged red fibers
Myoclonus cerebellar ataxia deafness
Myoclonus hereditary progressive distal muscular atrophy
Myoclonus-dystonia
Myoglobinuria recurrent
Myopathy with extrapyramidal signs
Myosin storage myopathy
Myotonia congenita
Myotonic dystrophy type 1
Myotonic dystrophy type 2
N syndrome
Nance-Horan syndrome
Narcolepsy
Native American myopathy
NBIA/DYT/PARK-PLA2G6
Necrotizing autoimmune myopathy
Neonatal adrenoleukodystrophy
Neonatal meningitis
Neonatal progeroid syndrome
Neu Laxova syndrome
Neuroblastoma
Neurocutaneous melanosis
Neurofaciodigitorenal syndrome
Neuroferritinopathy
Neurofibromatosis type 1
Neurofibromatosis type 2
Neuroleptic malignant syndrome
Neuromyelitis optica
Neuromyelitis optica spectrum disorder
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 10
Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis 6
Neuronal ceroid lipofuscinosis 7
Neuronal ceroid lipofuscinosis 9
Neuronal intranuclear inclusion disease
Neuropathy ataxia retinitis pigmentosa syndrome
Neuropathy, distal hereditary motor, Jerash type
Neuropathy, hereditary motor and sensory, Okinawa type
Neuropathy, hereditary motor and sensory, Russe type
Neutral lipid storage disease with myopathy
Nevoid basal cell carcinoma syndrome
New-onset refractory status epilepticus
Nicolaides-Baraitser syndrome
Niemann-Pick disease type A
Niemann-Pick disease type B
Niemann-Pick disease type C1
Niemann-Pick disease type C2
Non 24 hour sleep wake disorder
Nondystrophic myotonia
Noonan syndrome
Normokalemic periodic paralysis
Norrie disease
Northern epilepsy
Oculocerebrocutaneous syndrome
Oculofaciocardiodental syndrome
Oculopharyngeal muscular dystrophy
Oculopharyngodistal myopathy
Okamoto syndrome
Olfactory neuroblastoma
Oligoastrocytoma
Oligodendroglioma
Oliver syndrome
Olivopontocerebellar atrophy
Omphalocele cleft palate syndrome lethal
OPHN1 syndrome
Opsoclonus-myoclonus syndrome
Optic atrophy 2
Optic pathway glioma
Ornithine transcarbamylase deficiency
Orofaciodigital syndrome 1
Orofaciodigital syndrome 10
Orofaciodigital syndrome 2
Orofaciodigital syndrome 3
Orofaciodigital syndrome 4
Orofaciodigital syndrome 5
Orofaciodigital syndrome 6
Orthostatic intolerance due to NET deficiency
Osteopenia and sparse hair
Osteoporosis-pseudoglioma syndrome
Oto-palato-digital syndrome type 1
Oto-palato-digital syndrome type 2
Ouvrier Billson syndrome
Pachygyria-intellectual disability-epilepsy syndrome
PACS1-related syndrome
Painful orbital and systemic neurofibromas-marfanoid habitus syndrome
Pallidopyramidal syndrome
Pallister W syndrome
Pallister-Killian mosaic syndrome
Pantothenate kinase-associated neurodegeneration
Paralysis agitans, juvenile, of Hunt
Paramyotonia congenita
Parkinson disease type 3
Parkinson disease type 9
Paroxysmal exertion-induced dyskinesia
Paroxysmal extreme pain disorder
Paroxysmal hemicrania
Paroxysmal kinesigenic choreoathetosis
Paroxysomal nonkinesigenic dyskinesia
Parsonage Turner syndrome
Partington syndrome
PCDH19-related female-limited epilepsy
Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections
PEHO syndrome
Pelizaeus-Merzbacher disease
Periventricular heterotopia
Periventricular leukomalacia
Perry syndrome
Peters plus syndrome
Pfeiffer Mayer syndrome
Pfeiffer Palm Teller syndrome
PGM3-CDG
PHACE syndrome
Phosphoglycerate kinase deficiency
Phosphoglycerate mutase deficiency
Phosphoserine aminotransferase deficiency
Photosensitive epilepsy
Pick's disease
Pitt-Hopkins syndrome
Pitt-Hopkins-like syndrome
Plasmacytoma
Pleomorphic xanthoastrocytoma
PMM2-CDG (CDG-Ia)
POEMS syndrome
Poliomyelitis
POLR3-Related Leukodystrophy
Polyarteritis nodosa
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
Pontine tegmental cap dysplasia
Pontocerebellar hypoplasia
Pontocerebellar hypoplasia type 1
Pontocerebellar hypoplasia type 2
Pontocerebellar hypoplasia type 3
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 5
Pontocerebellar hypoplasia type 6
Post Polio syndrome
Posterior column ataxia
Posterior column ataxia with retinitis pigmentosa
Postnatal progressive microcephaly, seizures, and brain atrophy
Potassium aggravated myotonia
Potocki-Lupski syndrome
PPM-X syndrome
Prader-Willi habitus, osteopenia, and camptodactyly
Primary amebic meningoencephalitis
Primary angiitis of the central nervous system
Primary basilar impression
Primary carnitine deficiency
Primary central nervous system lymphoma
Primary Familial Brain Calcification
Primary lateral sclerosis
Primary melanoma of the central nervous system
Primary orthostatic tremor
Primary progressive aphasia
Primrose syndrome
Progressive bulbar palsy
Progressive encephalomyelitis with rigidity and myoclonus
Progressive external ophthalmoplegia, autosomal recessive 1
Progressive hemifacial atrophy
Progressive non-fluent aphasia
Prolidase deficiency
Proteus syndrome
Proud syndrome
Pseudoaminopterin syndrome
Pseudocholinesterase deficiency
Pseudoneonatal adrenoleukodystrophy
Pseudoprogeria syndrome
Pseudotrisomy 13 syndrome
Pseudoxanthoma elasticum
Pterygium colli mental retardation digital anomalies
Pudendal Neuralgia
Pure autonomic failure
Pyridoxal 5'-phosphate-dependent epilepsy
Pyridoxine-dependent epilepsy
Pyruvate dehydrogenase phosphatase deficiency
Qazi Markouizos syndrome
Radiation induced brachial plexopathy
Ramos Arroyo Clark syndrome
Rapid-onset dystonia-parkinsonism
Rasmussen encephalitis
Reardon Wilson Cavanagh syndrome
Reducing body myopathy
Refsum disease
Refsum disease, infantile form
Renal dysplasia-limb defects syndrome
Renier Gabreels Jasper syndrome
Restless legs syndrome, susceptibility to, 1 - See Restless legs syndrome
Restless legs syndrome, susceptibility to, 2 - See Restless legs syndrome
Restless legs syndrome, susceptibility to, 3 - See Restless legs syndrome
Restless legs syndrome, susceptibility to, 4 - See Restless legs syndrome
Restless legs syndrome, susceptibility to, 5 - See Restless legs syndrome
Restless legs syndrome, susceptibility to, 6 - See Restless legs syndrome
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
Retinal vasculopathy with cerebral leukodystrophy
Rett syndrome
Reversible cerebral vasoconstriction syndrome
RFT1-CDG (CDG-In)
Rhabdoid tumor
Rhizomelic chondrodysplasia punctata type 1
Riboflavin transporter deficiency
Richards-Rundle syndrome
Richieri Costa Da Silva syndrome
Rigid spine syndrome
Ring chromosome 10
Ring chromosome 14
Ring chromosome 20
Rippling muscle disease
RNAse T2-deficient leukoencephalopathy
Roussy Levy syndrome
RRM2B-related mitochondrial DNA depletion syndrome
Ruvalcaba syndrome
Sacral defect with anterior meningocele
Salla disease
Sandhoff disease
Sandifer syndrome
Sarcoidosis - Not a rare disease
Say Barber Miller syndrome
Say Meyer syndrome
Scapuloperoneal syndrome, neurogenic, Kaeser type
SCARF syndrome
Schaaf-Yang syndrome
Scheie syndrome
Schimke immunoosseous dysplasia
Schindler disease type 1
Schinzel Giedion syndrome
Schisis association
Schizencephaly
Schwannomatosis
Schwartz Jampel syndrome
Scott Bryant Graham syndrome
Seaver Cassidy syndrome
Seckel syndrome
Semantic dementia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sepiapterin reductase deficiency
Septo-optic dysplasia spectrum
SeSAME syndrome
SETBP1 disorder
Severe congenital nemaline myopathy
Severe intellectual disability-progressive spastic diplegia syndrome
Severe X-linked intellectual disability, Gustavson type
Shapiro syndrome
Short-chain acyl-CoA dehydrogenase deficiency
Shoulder girdle defect mental retardation familial
Shprintzen omphalocele syndrome
Shprintzen-Goldberg craniosynostosis syndrome
Sialidosis type I
Sialidosis, type II
Sickle cell anemia
Sideroblastic anemia and mitochondrial myopathy
Simpson-Golabi-Behmel syndrome
Single upper central incisor
Sjogren-Larsson syndrome
SLC35A1-CDG (CDG-IIf)
SLC35A2-CDG
SLC35C1-CDG (CDG-IIc)
Slow-channel congenital myasthenic syndrome
Smith-Lemli-Opitz syndrome
Smith-Magenis syndrome
Sneddon syndrome
Snyder-Robinson syndrome
Sonoda syndrome
Spasmodic dysphonia
Spastic ataxia Charlevoix-Saguenay type
Spastic diplegia cerebral palsy
Spastic diplegia infantile type
Spastic paraplegia 1
Spastic paraplegia 10
Spastic paraplegia 11
Spastic paraplegia 12
Spastic paraplegia 13
Spastic paraplegia 14
Spastic paraplegia 15
Spastic paraplegia 16
Spastic paraplegia 17
Spastic paraplegia 18
Spastic paraplegia 19
Spastic paraplegia 2
Spastic paraplegia 23
Spastic paraplegia 24
Spastic paraplegia 25
Spastic paraplegia 26
Spastic paraplegia 29
Spastic paraplegia 3
Spastic paraplegia 31
Spastic paraplegia 32
Spastic paraplegia 39
Spastic paraplegia 4
Spastic paraplegia 51
Spastic paraplegia 5A
Spastic paraplegia 6
Spastic paraplegia 7
Spastic paraplegia 8
Spastic paraplegia 9
Spastic paraplegia facial cutaneous lesions
Spastic paraplegia-epilepsy-intellectual disability syndrome
Spastic paraplegia-glaucoma-intellectual disability syndrome
Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Spina bifida occulta - Not a rare disease
Spinal atrophy ophthalmoplegia pyramidal syndrome
Spinal meningioma
Spinal muscular atrophy 1
Spinal muscular atrophy type 2
Spinal muscular atrophy type 3
Spinal shock
Spinocerebellar ataxia
Spinocerebellar ataxia 1
Spinocerebellar ataxia 10
Spinocerebellar ataxia 11
Spinocerebellar ataxia 12
Spinocerebellar ataxia 13
Spinocerebellar ataxia 14
Spinocerebellar ataxia 15
Spinocerebellar ataxia 17
Spinocerebellar ataxia 18
Spinocerebellar ataxia 19 and 22
Spinocerebellar ataxia 2
Spinocerebellar ataxia 20
Spinocerebellar ataxia 21
Spinocerebellar ataxia 23
Spinocerebellar ataxia 25
Spinocerebellar ataxia 26
Spinocerebellar ataxia 27
Spinocerebellar ataxia 28
Spinocerebellar ataxia 29
Spinocerebellar ataxia 3
Spinocerebellar ataxia 30
Spinocerebellar ataxia 31
Spinocerebellar ataxia 34
Spinocerebellar ataxia 4
Spinocerebellar ataxia 5
Spinocerebellar ataxia 7
Spinocerebellar ataxia 8
Spinocerebellar ataxia 9
Spinocerebellar ataxia autosomal recessive 3
Spinocerebellar ataxia autosomal recessive 4
Spinocerebellar ataxia autosomal recessive 5
Spinocerebellar ataxia autosomal recessive 6
Spinocerebellar ataxia autosomal recessive 7
Spinocerebellar ataxia autosomal recessive 8
Spinocerebellar ataxia autosomal recessive with axonal neuropathy
Spinocerebellar ataxia type 6
Spinocerebellar ataxia with dysmorphism
Spinocerebellar ataxia X-linked type 2
Spinocerebellar ataxia X-linked type 3
Spinocerebellar ataxia X-linked type 4
Spinocerebellar degeneration and corneal dystrophy
Split hand urinary anomalies spina bifida
Split spinal cord malformation
Spondyloepiphyseal dysplasia congenita
SRD5A3-CDG (CDG-Iq)
SSR4-CDG
Status epilepticus
Steinfeld syndrome
Stiff person syndrome
Stocco dos Santos syndrome
Striatonigral degeneration infantile
Sturge-Weber syndrome
Subacute sclerosing panencephalitis
Subcortical band heterotopia
Subependymal giant cell astrocytoma
Subependymoma
Succinic semialdehyde dehydrogenase deficiency
Susac syndrome
Symmetrical thalamic calcifications
Tangier disease
TANGO2-Related Metabolic Encephalopathy and Arrhythmias
Tarlov cysts
Tay-Sachs disease
Tel Hashomer camptodactyly syndrome
Telfer Sugar Jaeger syndrome
Temple syndrome
Temple-Baraitser syndrome
Temporal epilepsy, familial
Temtamy syndrome
Tethered cord syndrome
Thalamic degeneration symmetrical infantile
Thalamic degeneration, symmetric infantile
Thoracic dysplasia hydrocephalus syndrome
Thoracic outlet syndromes - Not a rare disease
Thyrotoxic periodic paralysis
TMEM165-CDG (CDG-IIk)
Toriello-Carey syndrome
Tourette syndrome - Not a rare disease
Tranebjaerg Svejgaard syndrome
Transverse myelitis
Trichinosis
Trichorhinophalangeal syndrome type 2
Trigeminal neuralgia
Triosephosphate isomerase deficiency
Triple A syndrome
Troyer syndrome
Tuberous sclerosis
Tubular aggregate myopathy
Tumefactive multiple sclerosis
Typical congenital nemaline myopathy
Tyrosine hydroxylase deficiency
Tyrosinemia type 1
Ullrich congenital muscular dystrophy
Unverricht-Lundborg disease
Van Benthem-Driessen-Hanveld syndrome
Van Den Bosch syndrome
Variant Creutzfeldt-Jakob disease
Variegate porphyria
Vein of Galen aneurysm
Vici syndrome
Viljoen Kallis Voges syndrome
Visual snow syndrome
VLCAD deficiency
Vogt-Koyanagi-Harada disease
Von Hippel-Lindau disease
Walker-Warburg syndrome
Weaver syndrome
Welander distal myopathy, Swedish type
Wernicke-Korsakoff syndrome
West syndrome
Whipple disease
White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
Wiedemann Oldigs Oppermann syndrome
Williams syndrome
Wilson disease
Wilson-Turner syndrome
Wolf-Hirschhorn syndrome
Wolman disease
Woodhouse Sakati syndrome
Worster Drought syndrome
Wrinkly skin syndrome
Wyburn-Mason syndrome
X-linked Charcot-Marie-Tooth disease type 1 - See Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease type 2 - See Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease type 3 - See Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease type 4 - See Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease type 5 - See Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease type 6 - See Charcot-Marie-Tooth disease
X-linked complicated corpus callosum agenesis - See L1 syndrome
X-linked complicated spastic paraplegia type 1 - See L1 syndrome
X-linked creatine deficiency
X-linked dystonia-parkinsonism/Lubag
X-linked hereditary sensory and autonomic neuropathy with deafness
X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis
X-linked intellectual disability - short stature – obesity
X-linked intellectual disability, Najm type
X-linked intellectual disability, Schimke type
X-linked intellectual disability, Siderius type
X-linked intellectual disability, Turner type
X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
X-linked intellectual disability-plagiocephaly syndrome
X-linked lissencephaly with abnormal genitalia
X-linked myopathy with excessive autophagy
X-linked myotubular myopathy
X-linked non-specific intellectual disability
X-linked periventricular heterotopia
Xeroderma pigmentosum
Xia-Gibbs syndrome
XK aprosencephaly
Zechi Ceide syndrome
Zellweger syndrome
ZTTK syndrome
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