| Diseases |
Alias |
|
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Aoa1
|
Ataxia-Telangiectasia-Like Disorder
|
|
EAOH
|
Eoca-Ha
|
|
Ataxia With Oculomotor Apraxia Type 1
|
Ataxia-Oculomotor Apraxia 1
|
|
Ataxia-Oculomotor Apraxia Syndrome
|
AOA
|
|
Ataxia-Telangiectasia-Like Syndrome
|
Ataxia-Oculomotor Apraxia Type 1
|
|
Ataxia With Oculomotor Apraxia
|
Cerebellar Ataxia, Early-Onset, With Hypoalbuminemia
|
|
Early-Onset Ataxia With Oculomotor Apraxia And Hypoalbuminemia
|
Early-Onset Cerebellar Ataxia With Hypoalbuminemia
|
|
Adult Onset Ataxia With Oculomotor Apraxia
|
Early-Onset Ataxia With Ocular Motor Apraxia And Hypoalbuminemia
|
|
Scan2
|
Scar1
|
|
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
|
Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1
|
|
Atld
|
Ataxia Early-Onset With Oculomotor Apraxia And Hypoalbuminemia
|
|
Cerebellar Ataxia Early-Onset With Hypoalbuminemia
|
Ataxia-Oculomotor Apraxia
|
|
Spinocerebellar Ataxia, Autosomal Recessive 1
|
|
|
| Apraxia |
|
|
| Friedreich Ataxia |
|
Friedreich Ataxia 1
|
FRDA
|
|
Friedreich Ataxia With Retained Reflexes
|
Frda1
|
|
Fa
|
Friedreich'S Ataxia
|
|
Hereditary Spinal Ataxia
|
Fa1
|
|
Friedreich'S Tabes
|
Hereditary Spinal Sclerosis
|
|
Spinocerebellar Ataxia, Friedreich
|
Friedreich Spinocerebellar Ataxia
|
|
Friedrich'S Ataxia
|
|
|
| Oculomotor Apraxia |
|
|
| Analbuminemia |
|
ANALBA
|
Congenital Analbuminemia
|
|
Hypoalbuminemia
|
|
|
| Spinocerebellar Ataxia Type 1 With Axonal Neuropathy |
|
Scan1
|
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
|
|
Autosomal Recessive Spinocerebellar Ataxia With Axonal Neuropathy
|
Scan1, Tdp1-Related Spinocerebellar Ataxia With Axonal Neuropathy
|
|
Spinocerebellar Ataxia Autosomal Recessive With Axonal Neuropathy
|
Spinocerebellar Ataxia With Axonal Neuropathy
|
|
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy
|
Ataxia, Spinocerebellar, Autosomal Recessive With Axonal Neuropathy
|
|
|
| Ataxia-Telangiectasia |
|
Ataxia Telangiectasia
|
Louis-Bar Syndrome
|
|
AT
|
At1
|
|
Ataxia-Telangiectasia Syndrome
|
Ataxia - Telangiectasia Variant
|
|
Boder-Sedgwick Syndrome
|
Louis Bar Syndrome
|
|
Cerebello-Oculocutaneous Telangiectasia
|
Immunodeficiency With Ataxia Telangiectasia
|
|
A-T
|
Ataxia Telangiectasia Syndrome
|
|
Atm
|
Telangiectasia, Cerebello-Oculocutaneous
|
|
Ataxia-Telangiectasia Variant
|
|
|
| Ataxia-Oculomotor Apraxia 3 |
|
Ataxia With Oculomotor Apraxia Type 3
|
AOA3
|
|
Aaxia-Oculomotor Apraxia-3
|
Ataxia-Oculomotor Apraxia, Type 3
|
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
SCAR26
|
Autosomal Recessive Spinocerebellar Ataxia 26
|
|
Spinocerebellar Ataxia, Autosomal Recessive, 26
|
|
|
| Ataxia With Vitamin E Deficiency |
|
Ataxia With Isolated Vitamin E Deficiency
|
AVED
|
|
Familial Isolated Vitamin E Deficiency
|
Friedreich-Like Ataxia
|
|
Familial Isolated Deficiency Of Vitamin E
|
Isolated Vitamin E Deficiency
|
|
Ataxia, Friedreich-Like, With Selective Vitamin E Deficiency
|
Vitamin E Deficiency, Familial Isolated
|
|
Ved
|
Friedreich-Like Ataxia With Selective Vitamin E Deficiency
|
|
Five
|
Friedreich Ataxia Phenotype With Selective Vitamin E Deficiency
|
|
Vitamin E Familial Isolated, Deficiency Of
|
Ataxia Friedreich-Like With Selective Vitamin E Deficiency
|
|
|
| Spastic Ataxia, Charlevoix-Saguenay Type |
|
Charlevoix-Saguenay Spastic Ataxia
|
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
|
|
Arsacs
|
SACS
|
|
Spax6
|
Spastic Ataxia Charlevoix-Saguenay Type
|
|
Spastic Ataxia 6, Autosomal Recessive
|
Autosomal Recessive Spastic Ataxia Type 6
|
|
Spastic Ataxia Of Charlevoix-Saguenay
|
Atx/Hsp-Sacs
|
|
Ataxia, Spastic, Charlevoix-Saguenay Type
|
|
|
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Aoa2
|
Ataxia With Oculomotor Apraxia Type 2
|
|
Scar1
|
SCAN2
|
|
Ataxia-Oculomotor Apraxia 2
|
Ataxia-Ocular Apraxia 2
|
|
Ataxia-Oculomotor Apraxia Type 2
|
Scan 2
|
|
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
|
Spinocerebellar Ataxia, Autosomal Recessive 1, Formerly
|
|
Scar1, Formerly
|
Autosomal Recessive Spinocerebellar Ataxia-1
|
|
Spinocerebellar Ataxia, Autosomal Recessive, 1
|
Ataxia-Ocular Apraxia-2
|
|
Spinocerebellar Ataxia, Autosomal Recessive 1
|
|
|
| Neuropathy |
|
Peripheral Neuropathy
|
Peripheral Neuropathies
|
|
|
| Autosomal Recessive Cerebellar Ataxia |
|
|
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Scar9
|
Spinocerebellar Ataxia, Autosomal Recessive 9
|
|
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
|
COQ10D4
|
|
Arca2
|
Autosomal Recessive Cerebellar Ataxia Type 2
|
|
Primary Coenzyme Q10 Deficiency 4
|
Autosomal Recessive Ataxia Due To Coenzyme Q10 Deficiency
|
|
Autosomal Recessive Spinocerebellar Ataxia Type 9
|
Autosomal Recessive Spinocerebellar Ataxia 9
|
|
Spinocerebellar Ataxia Autosomal Recessive 9
|
Coenzyme Q10 Deficiency, Primary, Type 4
|
|
Ataxia, Spinocerebellar, Autosomal Recessive, Type 9
|
|
|
| Motor Peripheral Neuropathy |
|
Motor Neuritis
|
Peripheral Motor Neuropathy
|
|
Hereditary Motor And Sensory Neuropathy
|
Hsmn
|
|
Hsmn - Hereditary Sensory And Motor Neuropathy
|
Neuropathic Muscular Atrophy
|
|
Hereditary Sensory And Motor Neuropathy
|
Hereditary Motor And Sensory Neuropathies
|
|
|
| Coenzyme Q10 Deficiency Disease |
|
Coenzyme Q10 Deficiency
|
Coq10 Deficiency
|
|
Primary Coenzyme Q10 Deficiency
|
Coenzyme Q Deficiency
|
|
Coq Deficiency
|
Primary Coq10 Deficiency
|
|
Ubiquinone Deficiency
|
Coenzyme Q10 Deficiency, Primary
|
|
Coq10 Deficiency, Primary
|
|
|
| Cerebellar Disease |
|
Cerebellar Diseases
|
Cerebellar Dysfunction
|
|
Cerebellar Abnormality
|
Cerebellar Disorders
|
|
|
| Spinocerebellar Ataxia 14 |
|
Spinocerebellar Ataxia Type 14
|
SCA14
|
|
Ataxia, Spinocerebellar, Type 14
|
|
|
| Kearns-Sayre Syndrome |
|
Ophthalmoplegia
|
Mitochondrial Cytopathy
|
|
KSS
|
Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy
|
|
Oculocraniosomatic Syndrome
|
Chronic Progressive External Ophthalmoplegia With Myopathy
|
|
Cpeo With Myopathy
|
Total Ophthalmoplegia
|
|
Ophthalmoplegia-Plus Syndrome
|
Ophthalmoplegia, Progressive External, With Ragged-Red Fibers
|
|
Cpeo With Ragged-Red Fibers
|
Oculomotor Paralysis
|
|
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O
|
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna
|
|
Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia
|
Cpeo With Ragged Red Fibers
|
|
Ophthalmoplegia Plus Syndrome
|
Ophthalmoplegia, Progressive External, With Ragged Red Fibers
|
|
Kearns-Sayre Mitochondrial Cytopathy
|
Mitochondrial Myopathies
|
|
|
| Hemopneumothorax |
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
SCAR23
|
Autosomal Recessive Spinocerebellar Ataxia 23
|
|
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
|
Autosomal Recessive Cerebellar Ataxia - Epilepsy - Intellectual Disability Syndrome Due To Tud Deficiency
|
|
Spinocerebellar Ataxia Autosomal Recessive Type 23
|
Spinocerebellar Ataxia, Autosomal Recessive, 23
|
|
Ataxia, Spinocerebellar, Autosomal Recessive, Type 23
|
|
|
| Hereditary Ataxia |
|
Sca
|
Spinocerebellar Ataxia
|
|
Ataxias Hereditary
|
Ataxias, Hereditary
|
|
|
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Allgrove Syndrome
|
Triple-A Syndrome
|
|
Achalasia-Addisonianism-Alacrimia Syndrome
|
Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder
|
|
Triple A Syndrome
|
Aaa Syndrome
|
|
AAAS
|
Glucocorticoid Deficiency With Achalasia
|
|
Glucocorticoid Deficiency And Achalasia
|
Addisonian-Achalasia Syndrome
|
|
Hypoadrenalism With Achalasia
|
Alacrima-Achalasia-Addisonianism
|
|
Aaa
|
Acth-Resistant Adrenal Insufficiency, Achalasia And Alacrima
|
|
Achalasia Addisonianism Alacrimia Syndrome
|
Achalasia Alacrima Syndrome
|
|
Addisonian Achalasia Syndrome
|
Achalasia-Addisonian Syndrome
|
|
Achalasia-Alacrima Syndrome
|
2a Syndrome
|
|
3a Syndrome
|
4a Syndrome
|
|
Adrenal Insufficiency-Achalasia-Alacrima Syndrome
|
Double A Syndrome
|
|
Quaternary A Syndrome
|
Acth-Resistant Adrenal Insufficiency With Achalasia And Alacrima
|
|
Allgrove'S Syndrome
|
Adrenal Gland Hypofunction
|
|
Adrenal Cortical Hypofunction
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2cc |
|
Charcot-Marie-Tooth Disease Axonal Type 2cc
|
CMT2CC
|
|
Charcot-Marie-Tooth Neuropathy, Type 2cc
|
Charcot-Marie-Tooth Neuropathy Type 2cc
|
|
Charcot-Marie-Tooth Disease 2cc
|
|
|
| Vestibular Nystagmus |
|
Nystagmus Associated With Disorder Of The Vestibular System
|
|
|
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
MRXSBL
|
Mental Retardation, X-Linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance
|
|
X-Linked Mental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance
|
Mental Retardation, X-Linked 60, Formerly
|
|
Mrx60, Formerly
|
Intellectual Developmental Disorder, X-Linked Syndromic, Billuart Type
|
|
Mrx60
|
Mental Retardation, X-Linked, With Cerebellar Hypoplasia, Distinctive Facial Appearance
|
|
|
| Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Ataxic Cerebral Palsy
|
Acp
|
|
Hypotonic Cerebral Palsy
|
Cerebral Palsy Ataxic
|
|
Cerebral Palsy, Atonic
|
Congenital Cerebral Palsy With Ataxia
|
|
Ataxic Cerebral Paralysis
|
Ataxia With Cerebral Palsy
|
|
Cerebral Infantile Diataxia
|
|
|
| Mitochondrial Dna Depletion Syndrome 7 |
|
Ohaha Syndrome
|
Infantile Onset Spinocerebellar Ataxia
|
|
Iosca
|
Infantile-Onset Spinocerebellar Ataxia
|
|
Spinocerebellar Ataxia 8
|
MTDPS7
|
|
Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, And Athetosis
|
Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome
|
|
Sca8
|
Spinocerebellar Ataxia Infantile With Sensory Neuropathy
|
|
Spinocerebellar Ataxia, Infantile-Onset
|
Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, And Athetosis
|
|
Spinocerebellar Ataxia, Infantile, With Sensory Neuropathy
|
Spinocerebellar Ataxia 8, Formerly
|
|
Sca8, Formerly
|
Iosca, Mitochondrial Dna Depletion Syndrome 7
|
|
Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis
|
Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form
|
|
Mtdna Depletion Syndrome, Hepatocerebrorenal Form
|
Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type
|
|
Ophthalmoplegia Hypotonia Ataxia Hypoacusis And Athetosis
|
Pure Spinocerebellar Ataxia Japanese Type
|
|
Sca4 Pure Japanese Type
|
Spinocerebellar Ataxia Infantile-Onset
|
|
Mitochondrial Dna Depletion Syndrome , Type 7
|
|
|
| Lig4 Syndrome |
|
Dna Ligase Iv Deficiency
|
Ligase 4 Syndrome
|
|
LIG4S
|
|
|
| Immunodeficiency With Hyper-Igm, Type 5 |
|
HIGM5
|
Hyper-Igm Syndrome 5
|
|
Immunodeficiency With Hyper Igm Type 5
|
Hyper-Igm Syndrome Type 5
|
|
Hyper-Igm Syndrome Due To Ung Deficiency
|
Hyper-Igm Syndrome Due To Uracil N-Glycosylase
|
|
Immunodeficiency With Hyper Igm, Type 5
|
Hyper Igm Syndrome 5
|
|
Immunodeficiency With Hyper-Igm 5
|
Hyper-Igm Immunodeficiency Type 5
|
|
Immunodeficiency, With Hyper Igm, Type 5
|
Hyper-Igm Immunodeficiency Syndrome, Type 5
|
|
|
| Dystonia |
|
Dystonic Disease
|
Dystonic Disorder
|
|
Dystonia Disorders
|
Neuroleptic Dyskinesia
|
|
|
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic Lateral Sclerosis Type 4
|
ALS4
|
|
Amyotrophic Lateral Sclerosis 4
|
Dhmn With Upper Motor Neuron Signs
|
|
Distal Hereditary Motor Neuropathy With Upper Motor Neuron Signs
|
Neuronopathy, Distal Hereditary Motor, With Pyramidal Features
|
|
Als 4
|
Distal Hereditary Motor Neuropathy With Pyramidal Features
|
|
Amyotrophic Lateral Sclerosis Juvenile 4
|
Neuronopathy Distal Hereditary Motor With Pyramidal Features
|
|
Sclerosis, Lateral, Amyotrophic, Type Type 4
|
|
|
| Autosomal Dominant Cerebellar Ataxia |
|
Spinocerebellar Ataxia
|
Adca
|
|
Pierre Marie Cerebellar Ataxia
|
Ataxia, Spinocerebellar
|
|
Sca
|
Autosomal Dominant Spinocerebellar Ataxia
|
|
Spinocerebellar Ataxias
|
|
|
| Marinesco-Sjogren Syndrome |
|
Marinesco-Sjögren Syndrome
|
MSS
|
|
Marinesco-Garland Syndrome
|
Garland-Moorhouse Syndrome
|
|
Hereditary Oligophrenic Cerebello-Lental Degeneration
|
Oligophrenic Cerebellolenticular Degeneration
|
|
Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism
|
Marinesco-Sjogren Syndrome-Myopathy
|
|
Marinesco-Sjogren-Garland Syndrome
|
Marinesco-Sjoegren Syndrome
|
|
|
| Choreatic Disease |
|
|
| Cardiofaciocutaneous Syndrome 1 |
|
Cardiofaciocutaneous Syndrome
|
Cfc Syndrome
|
|
Cardio-Facio-Cutaneous Syndrome
|
CFC1
|
|
Cfcs
|
Cardio-Facial-Cutaneous Syndrome
|
|
Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities And Growth Failure
|
Cardiofaciocutaneous Syndrome, Type 1
|
|
|
| Xeroderma Pigmentosum, Variant Type |
|
Xeroderma Pigmentosum
|
XPV
|
|
Xeroderma Pigmentosum Variant Type
|
Xeroderma Pigmentosum With Normal Dna Repair Rates
|
|
Photosensitivity With Defective Dna Synthesis
|
Xp
|
|
De Sanctis-Cacchione Syndrome
|
Desanctis-Cacchione Syndrome
|
|
Xeroderma Pigmentosa
|
Xerodermic Idiocy
|
|
Xeroderma Pigmentosum Variant
|
Xp - [Xeroderma Pigmentosum]
|
|
Atrophoderma Pigmentosum
|
|
|
| Nijmegen Breakage Syndrome |
|
Berlin Breakage Syndrome
|
NBS
|
|
Microcephaly, Normal Intelligence And Immunodeficiency
|
Ataxia-Telangiectasia Variant
|
|
Ataxia-Telangiectasia Variant V1
|
Seemanova Syndrome Ii
|
|
Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome
|
Seemanova Syndrome Type 2
|
|
At-V1
|
Microcephaly With Normal Intelligence, Immunodeficiency, And Lymphoreticular Malignancies
|
|
Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence
|
Immunodeficiency, Microcephaly, And Chromosomal Instability
|
|
Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome
|
Microcephaly Immunodeficiency Lymphoreticuloma
|
|
Microcephaly With Normal Intelligence Immunodeficiency And Lymphoreticular Malignancies
|
Nonsyndromal Microcephaly Autosomal Recessive With Normal Intelligence
|
|
Seemanova Syndrome 2
|
Ataxia-Telangiectasia Variant 1
|
|
Seemanova Syndrome
|
At V1
|
|
Ataxia-Telangiectasia, Variant 1
|
Microcephaly-Immunodeficiency-Lymphoid Malignancy Syndrome
|
|
V-At
|
Ataxia Telangiectasia Variant V1
|
|
|
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
SANDO
|
Mitochondrial Recessive Ataxia Syndrome
|
|
Spinocerebellar Ataxia With Epilepsy
|
Epilepsy, Progressive Myoclonic 5
|
|
Epm5
|
Miras
|
|
SCAE
|
Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions, Autosomal Recessive
|
|
Autosomal Recessive Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions
|
Progressive Myoclonic Epilepsy Type 5
|
|
Pme Type 5
|
Progressive Myoclonus Epilepsy Type 5
|
|
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
|
Recessive Mitochondrial Ataxia Syndrome
|
|
Sensory Ataxic Neuropathy Dysarthria And Ophthalmoparesis
|
Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome
|
|
Mscae
|
Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Autosomal Recessive
|
|
Progressive Myoclonic Epilepsy With Sensory Ataxic Neuropathy
|
Epilepsy, Progressive Myoclonic, 5
|
|
Ataxia Neuropathy Spectrum
|
|
|
| Orofaciodigital Syndrome Vi |
|
OFD6
|
Varadi-Papp Syndrome
|
|
Varadi Syndrome
|
Joubert Syndrome With Orofaciodigital Defect
|
|
Orofaciodigital Syndrome Type 6
|
Orofaciodigital Syndrome 6
|
|
Oral-Facial-Digital Syndrome, Type Vi
|
Ofds Vi
|
|
Polydactyly, Cleft Lip/Palate Or Lingual Lump, And Psychomotor Retardation
|
Polydactyly Cleft Lip Palate Psychomotor Retardation
|
|
Oral-Facial-Digital Syndrome Type 6
|
Polydactyly-Cleft Lip/Palate-Psychomotor Retardation Syndrome
|
|
Polydactyly - Cleft Lip/Palate - Psychomotor Retardation
|
Váradi Syndrome
|
|
Váradi-Papp Syndrome
|
Joubert Syndrome With Oral-Facial-Digital Syndrome
|
|
Oral-Facial-Digital Syndrome 6
|
Joubert-Orofaciodigital Syndrome
|
|
Orofaciodigital Syndrome, Type Vi
|
|
|
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
MADD
|
Ethylmalonic-Adipicaciduria
|
|
Ema
|
Glutaric Acidemia Iia
|
|
Glutaric Acidemia Iib
|
Ga Ii
|
|
Glutaric Acidemia Iic
|
Glutaric Acidemia Type 2
|
|
Glutaric Acidemia Ii
|
Glutaric Aciduria Ii
|
|
Electron Transfer Flavoprotein Deficiency
|
Glutaric Aciduria Type 2
|
|
Mad Deficiency
|
Glutaric Acidemia Type Ii
|
|
Glutaric Aciduria 2
|
Etfa Deficiency
|
|
Etfb Deficiency
|
Etfdh Deficiency
|
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
Ga2
|
|
Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency
|
Electron Transfer Flavoprotein Dehydrogenase Deficiency
|
|
Ga 2
|
Glutaric Acidemia 2
|
|
Glutaric Acidemia, Type 2
|
Glutaric Aciduria, Type 2
|
|
Mad
|
Multiple Fad Dehydrogenase Deficiency
|
|
Ethylmalonic Adipic Aciduria
|
Glutaricaciduria Ii
|
|
Glutaric Aciduria 2a
|
GA2A
|
|
Gaiia
|
Glutaricaciduria Iia
|
|
Glutaric Aciduria 2b
|
GA2B
|
|
Gaiib
|
Glutaricaciduria Iib
|
|
Glutaric Aciduria 2c
|
GA2C
|
|
Gaiic
|
Glutaricaciduria Iic
|
|
Glutaricaciduria, Type Iia
|
Glutaric Acidemia Type 2a
|
|
Glutaric Acidemia Type 2c
|
Glutaric Aciduria Iia
|
|
Glutaric Aciduria Iib
|
Glutaric Aciduria Iic
|
|
|
| Spastic Ataxia |
|
|
| Episodic Ataxia |
|
Isaacs Syndrome
|
Neuromyotonia
|
|
Isaacs' Syndrome
|
Acquired Neuromyotonia
|
|
Continuous Muscle Fiber Activity Syndrome
|
Quantal Squander Syndrome
|
|
Isaacs-Mertens Syndrome
|
Ea Syndrome
|
|
Episodic Ataxia Syndrome
|
Isaac Syndrome
|
|
Isaac'S-Merten'S Syndrome
|
Isaac-Mertens Syndrome
|
|
Peripheral Nerve Hyperexcitability
|
Ea
|
|
Peripheral Nerve Hyperexcitability Syndrome
|
Ataxia, Episodic
|
|
Isaacs Neuromyotonia
|
Continuous Muscle Fibre Activity
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Rasopathy |
|
Ras/Mitogen-Activated Protein Kinase Syndrome
|
|
|
| Peripheral Nervous System Disease |
|
Peripheral Neuropathy
|
Peripheral Nerve Disease
|
|
Peripheral Nerve Disorders
|
Neuropathy, Peripheral
|
|
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
|
|
|
| Hereditary Spastic Paraplegia |
|
Familial Spastic Paraplegia
|
Hereditary Spastic Paraparesis
|
|
Strumpell-Lorrain Disease
|
Familial Spastic Paraparesis
|
|
Hsp
|
Spg
|
|
Strümpell-Lorrain Disease
|
Spastic Paraplegia, Hereditary
|
|
French Settlement Disease
|
Strumpell-Lorrain Syndrome
|
|
Fsp
|
Spastic Paraplegia, Familial
|
|
Spastic Paraplegia Hereditary
|
Spastic Paraplegia 3, Autosomal Dominant
|
|
Spastic Paraparesis
|
Hereditary Spastic Paralysis
|
|
Familial Spastic Paralysis
|
Hereditary Spastic Ataxia
|
|
|
