banner
Genes Phenotypes Help, News, Blog

Gene: Tpp1 MGI:1336194

Log in to follow
Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
tripeptidyl peptidase I
Synonyms:
Cln2

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Tpp1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Tpp1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent l... OMIM:204500
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Postural tremor, Babinski sig... ORPHA:284324
Spinocerebellar Ataxia, Autosomal Recessive 7
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Un... OMIM:609270

The table below shows human diseases predicted to be associated to Tpp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d... ORPHA:98765
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... OMIM:617672
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... OMIM:616053
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls OMIM:615945
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Decreased number of lar... OMIM:614895
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Cerebellar atrophy, Delayed CNS myelination, Ataxia, Impaired distal proprioception, Impaired dis... OMIM:619742
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Gait disturbance, Abnormality of extrapyramidal... OMIM:614561
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy OMIM:616410
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Ataxia, Abasia OMIM:209100
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ... OMIM:617018
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity ORPHA:217012
Peroxisome Biogenesis Disorder 8B
Clonus, Dysmetria, Gait ataxia, Hypertonia, Leukodystrophy, Loss of ambulation, Ataxia, Limb trem... OMIM:614877
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking ORPHA:423296
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Impaired pain sensation, Impaired distal vibration sensation, Babinski sign, Hand tremor, Distal ... OMIM:618279
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Unste... ORPHA:497764
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Seizure, Ataxia, Cerebellar hypoplasia OMIM:213000
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor OMIM:601238
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... ORPHA:397946
Null Syndrome
Ataxia, Inability to walk, Abnormal cerebellum morphology, Optic atrophy, CNS hypomyelination, Pr... ORPHA:280234
Spinocerebellar Ataxia Type 5
Cerebellar atrophy, Slurred speech, Gait disturbance, Incoordination ORPHA:98766
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy, Broad-based gait, Cerebral palsy, Dysdiadochokinesis OMIM:605388
Roussy-Levy Hereditary Areflexic Dystasia
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Upper limb postural... OMIM:180800
Spinocerebellar Ataxia 38
Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degene... OMIM:615957
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Peripheral axonal neuropathy, Somatic sensory dysfunction, Steppage gait, Onion bulb formation, P... OMIM:620378
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Nonprogressive cerebellar ataxia, Truncal a... ORPHA:94122
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Steppage gait, Onion bulb formation, Distal sensory impairment OMIM:616039
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Onion bulb formation, Ataxia, Segmental peripheral demyelination/remyelination, Hypoesthesia, Gai... OMIM:601098
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Scissor gait, Babinski... ORPHA:101010
Chronic Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Segmental peripheral demyelination/remyelination, Unsteady gait, Sen... ORPHA:2932
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased number of peripheral myelinated nerve fibers, Impaired vibratory sensation, Peripheral ... OMIM:607250
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Distal sensory impairment, Steppage gait, Diffi... OMIM:606483
Spinocerebellar Ataxia Type 30
Limb ataxia, Cerebellar vermis atrophy, Gait ataxia ORPHA:211017
Spastic Paraplegia 72, Autosomal Recessive
Ataxia, Babinski sign, Spastic paraplegia, Hoffmann sign, Impaired vibration sensation in the low... OMIM:615625
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Fal... ORPHA:363710
Diaminopentanuria
Neurodegeneration, Seizure, Spasticity, Ataxia OMIM:222350
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Dysesthesia, Unsteady gait, Gait ataxia, Acute demyelinating polyneuropathy, Onion bulb formation ORPHA:98916
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus OMIM:616187
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Impaired vibratory sensation, Impaired pain sensation, Distal sensory impairment, Steppage gait, ... OMIM:615185
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Seizure, Ataxia, Spastic tetraparesis, Cavitating leukodystrophy OMIM:619061
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Spinocerebellar Ataxia Type 25
Impaired pain sensation, Decreased number of large peripheral myelinated nerve fibers, Babinski s... ORPHA:101111
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical... OMIM:615268
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... OMIM:214400
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizur... OMIM:612437
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... OMIM:607734
Atypical Rett Syndrome
Dystonia, Generalized myoclonic seizure, Episodic tachypnea, Infantile spasms, Sudden episodic ap... ORPHA:3095
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Unsteady gait, Babinski sign, Clumsiness, Spastic dysarthria, Cereb... ORPHA:314978
Carnitine Deficiency, Myopathic
Myopathy, Reduced muscle carnitine level OMIM:212160
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h... OMIM:615768
Spinocerebellar Ataxia 45
Cerebellar atrophy, Limb ataxia, Gait ataxia OMIM:617769
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Impaired vibratory sensation, Impaired distal proprioception, Imp... ORPHA:101097
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, Foc... OMIM:615362
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia, Cerebellar agenesis ORPHA:1397
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Neurodegeneration, Generalized myocl... OMIM:610951
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal degeneration/regene... OMIM:607677
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Sei... OMIM:600143
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy, Inability to walk, Ataxia OMIM:619333
Spinocerebellar Ataxia 35
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:613908
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Delayed CNS myelination, Bilateral tonic-clonic seizure, Parkinsonism, Rigidi... OMIM:300423
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... ORPHA:284332
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking ORPHA:85292
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Spastic tetraparesis, Babinski sign, Gait ataxia, Seizure, Loss of ambulation, CNS demyelination,... OMIM:249900
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal regeneration, Dista... OMIM:607731
Ceroid Lipofuscinosis, Neuronal, 9
Ataxia, Rigidity, Optic atrophy, Cerebral atrophy, Seizure, Loss of ambulation OMIM:609055
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Broad-based gait, S... OMIM:145900
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Pontocerebellar atrophy, Dysdiadochokine... ORPHA:423275
Spastic Paraplegia 55, Autosomal Recessive
Lower limb spasticity, Peripheral axonal neuropathy, Impaired distal vibration sensation, Optic a... OMIM:615035
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... OMIM:616948
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Clumsiness, Myopathy, Di... ORPHA:603
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Symmetric peripheral demyelination, Demyelinating motor neuropathy, ... ORPHA:206594
Stxbp1-Related Encephalopathy
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Tremo... ORPHA:599373
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebellar atrophy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onse... OMIM:611726
Dystonia 23
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... OMIM:614860
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Facial pals... OMIM:118210
Charcot-Marie-Tooth Disease, Type 4K
Ataxia, Axonal loss, Difficulty walking, Dystonia, Peripheral demyelination OMIM:616684
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Tonic seizure, ... OMIM:618090
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Peripheral axonal neuropathy, Torticollis, Ataxia, Tremor, Babinski sign, Abn... OMIM:607317
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia ORPHA:401840
Dystonia 31
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Abnormal posturin... OMIM:619565
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Oculomotor ... OMIM:614487
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia... OMIM:607458
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Cerebella... OMIM:302800
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls ORPHA:494526
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia OMIM:617584
Spinocerebellar Ataxia, Autosomal Recessive 24
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Spasticity OMIM:611105
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Dysmyelinating leukodyst... OMIM:612319
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Seizure, Hemiplegia OMIM:141500
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Increased neuronal autofluorescent lipopigm... OMIM:162350
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Spinocerebellar Ataxia 31
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia OMIM:117210
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Waddling gait, Hypoesthesia, Unsteady gai... OMIM:609311
Autosomal Recessive Spastic Paraplegia Type 67
Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Limb tremor, C... ORPHA:401820
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Tremor, Babinski sign, Optic atrophy, Dis... OMIM:609260
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... ORPHA:101110
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Impaired prop... ORPHA:95434
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Slurred speech, Clumsiness... ORPHA:2386
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Steppage gait,... OMIM:118200
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Babinski sign,... OMIM:614322
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Cerebral degeneration, Ataxia, Chronic axonal neuropathy OMIM:260970
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Ataxia, Optic atrophy, Seizure, Generalized myoclonic seizure OMIM:614706
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Optic atrophy, Distal sensory impairment, Gait ... OMIM:311070
Giant Axonal Neuropathy 2, Autosomal Dominant
Peripheral axonal neuropathy, Impaired distal vibration sensation, Steppage gait, Impaired distal... OMIM:610100
Charcot-Marie-Tooth Disease, Type 4J
Distal sensory impairment, Axonal loss, Peripheral hypomyelination, Gait disturbance, Frequent fa... OMIM:611228
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v... OMIM:616291
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Spinocerebellar Ataxia Type 23
Babinski sign, Impaired distal vibration sensation, Impaired proprioception, Limb ataxia, Dysmetr... ORPHA:101108
Nescav Syndrome
Appendicular spasticity, Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Inability to w... OMIM:614255
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Ataxia, Tremo... OMIM:618387
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Seizure, Myoclonus, Intention... OMIM:618876
Bethlem Myopathy 1
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... OMIM:158810
Charcot-Marie-Tooth Disease Type 4G
Impaired vibratory sensation, Peripheral axonal neuropathy, Impaired pain sensation, Distal senso... ORPHA:99953
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Distal ... OMIM:604484
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Babinski sign, Cerebral atrophy, Seizure, Axonal loss, Gait disturbance, Myoclon... OMIM:221770
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe... OMIM:601596
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:118220
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Dyspnea, Tachypnea, Abnormal pyramidal sign, Choreoathetosis, Sei... ORPHA:765
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkinetic movements, Dyst... OMIM:618425
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Intentio... OMIM:302500
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Seizure, Myoclonus, Tetraparesis, Dyst... OMIM:615924
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Optic disc pallor, Peripheral axonal neuropathy, Lower limb spasticity, Ataxi... OMIM:619389
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Camos Syndrome
Ataxia, Optic atrophy, Spasticity, Seizure, Brain atrophy, Aplasia/Hypoplasia of the cerebellum, ... ORPHA:83472
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination, Impaired distal proprioception ORPHA:231445
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Inability to walk, Optic atrophy, Gen... OMIM:617810
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy OMIM:208100
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Ataxia, Tremor OMIM:619099
Spinocerebellar Ataxia 12
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... OMIM:604326
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia OMIM:611694
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Oculogyric crisis, ... ORPHA:330050
Spinocerebellar Ataxia 11
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... OMIM:604432
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Neurodegen... OMIM:615643
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni... OMIM:617831
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy, Ataxia ORPHA:2579
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Tremor, Ragged-red muscle fibers, Intrinsic hand muscle ... ORPHA:276435
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... OMIM:611302
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Bilateral tonic-clonic seizure, Atrophy/Degeneration affecting the brainstem,... OMIM:616230
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Upper limb muscle weakness, Proximal muscle weakness in lowe... ORPHA:309169
Myoclonic-Atonic Epilepsy
Delayed CNS myelination, Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-mo... OMIM:616421
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... OMIM:256731
Urocanase Deficiency
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive ... ORPHA:276193
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Gait disturbance, Peripheral demyelination, Distal sensory impairment ORPHA:99944
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Ataxia, Chorea, Axonal degeneration, Babinski sign, Cerebral atro... OMIM:604168
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Epilepsy, Progressive Myoclonic, 6
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni... OMIM:614018
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Steppage gait, Peripheral demyelination, Axonal degeneration/regeneration, Distal sensory impairment OMIM:607736
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Ragged-red muscle fibers, Myopathy, Myoclonus, Spasticity OMIM:545000
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Seizure OMIM:615705
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w... OMIM:619216
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Resting tremor, Peripheral axonal neuropathy, Cerebellar atrophy, A... OMIM:617225
Spinocerebellar Ataxia, Autosomal Recessive 6
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intention tremor OMIM:608029
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia OMIM:125370
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Seizure, Neurodegeneration OMIM:613068
Adult Krabbe Disease
Broad-based gait, Somatic sensory dysfunction, Ataxia, Abnormal medulla oblongata morphology, Pro... ORPHA:206448
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Trem... ORPHA:454887
Mitochondrial Myopathy With Diabetes
Ataxia, Facial palsy, Ragged-red muscle fibers, Babinski sign, Limb muscle weakness, Proximal amy... OMIM:500002
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lipopigment, Focal-ons... OMIM:204300
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor... ORPHA:79262
Neuropathy, Hereditary, With Liability To Pressure Palsies
Hand paresthesia, Hypoesthesia, Vocal cord paralysis, Segmental peripheral demyelination/remyelin... OMIM:162500
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, CNS hypomyelination, Myoclonus, Leukodystrophy, Spasticity OMIM:616494
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Epilepsia partialis continua, Cerebellar atrophy, Ataxia, Involuntary movements, Decreased number... OMIM:271245
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Distal sensory impairment, Steppage... OMIM:608340
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Ataxia, Bilateral tonic-clonic seizure ORPHA:22
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Nonaka Myopathy
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... OMIM:605820
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis, Decreased number of large peripheral myelinated nerve fibers, Distal sensory impairmen... OMIM:605285
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... OMIM:213200
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Impaired ... OMIM:607706
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... OMIM:600363
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Cerebral atrophy, Leukodyst... OMIM:617916
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Spastic Ataxia, Charlevoix-Saguenay Type
Progressive truncal ataxia, Spastic ataxia, Ataxia, Decreased number of large peripheral myelinat... OMIM:270550
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Nemaline Myopathy 6
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy OMIM:609273
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... OMIM:615386
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Subcortical cerebral atrophy, Falls, Shuffl... ORPHA:306692
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Steppage gait,... OMIM:605588
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Incoordination, Tremor, Focal-... ORPHA:36387
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent l... OMIM:204500
Fingerprint Body Myopathy
Myopathy OMIM:305550
Neuromyelitis Optica Spectrum Disorder
Somatic sensory dysfunction, Neuronal loss in central nervous system, Peripheral demyelination, P... ORPHA:71211
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Cerebellar atrophy, Dystonia, Ataxia, Decreased number of large p... OMIM:208920
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Peripheral axonal degeneration, Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Spas... OMIM:615157
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor ORPHA:2589
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Ataxia, Postural tremor,... OMIM:615491
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Unsteady ga... OMIM:616127
Charcot-Marie-Tooth Disease, Type 4B2
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... OMIM:604563
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, Chiari type I malformatio... OMIM:617836
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Krabbe Disease
Diffuse cerebral atrophy, Optic atrophy, Seizure, Hypertonia, Neurodegeneration, Decerebrate rigi... OMIM:245200
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Tachypnea, Pulmonary edema OMIM:267450
Citrullinemia Type I
Torticollis, Ataxia, Tachypnea, Slurred speech, Ankle clonus, Seizure, Spasticity ORPHA:247525
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Postural tremor, Babinski sig... ORPHA:284324
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Dystonia, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Apraxia, Spa... OMIM:615889
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Ataxia, Degenerati... OMIM:604360
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... OMIM:128230
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity, Hypomim... OMIM:300911
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Akinesia, Postural tremor, Rigidity... OMIM:619911
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Spastic parapleg... OMIM:610357
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... OMIM:618587
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... OMIM:617145
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ... OMIM:610185
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Seizure, Subcortical cerebral atrophy, Hypertonia, Cereb... ORPHA:33445
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, An... ORPHA:521406
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Autosomal Recessive Spastic Paraplegia Type 35
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus cal... ORPHA:171629
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset,... OMIM:619028
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... OMIM:614831
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Neuropathy, Congenital Hypomyelinating, 2
Decreased number of peripheral myelinated nerve fibers, Inability to walk, Sensory ataxia, Facial... OMIM:618184
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... ORPHA:251282
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Inability to walk, Spastic paraplegia, Focal tonic seizure, Spastic tetrapl... OMIM:617977
X-Linked Progressive Cerebellar Ataxia
Unsteady gait, Babinski sign, Limb ataxia, Dysmetria, Spastic dysarthria, Progressive cerebellar ... ORPHA:1175
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Seizure... ORPHA:71517
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Ataxia, Tachypnea, Respiratory insufficiency, Seizure, Respiratory failure,... OMIM:614299
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Tremor, Chorea, Babinsk... OMIM:618093
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Distal sensory impairment, Axonal degeneration/regeneration, Segmental peripheral demyelination/r... OMIM:607791
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Dysmetria, Cerebral atrophy, ... OMIM:618088
Folinic Acid-Responsive Seizures
Respiratory distress, Broad-based gait, Ataxia, Apnea, Spastic tetraparesis, Clonic seizure, Chor... ORPHA:79097
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Abnormal cerebellum morphology, Babinski sign, Abnormal pyramidal sign, CNS h... OMIM:610532
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Dravet Syndrome
Ataxia, Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Vis... OMIM:607208
Myoclonic Epilepsy, Familial Infantile
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Limb ataxia, Impaired tandem gait, G... OMIM:605021
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal pyramidal sign, Peripheral demyelination, Leukodystrophy DECIPHER:59
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Somatic sensory dysfunction, Steppa... OMIM:615376
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Facial palsy, Impaired pain sensation, Impaired distal vibration sensation, Distal sensory impair... OMIM:607684
Spinocerebellar Ataxia 29
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Impai... OMIM:117360
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation, Spastic p... OMIM:182815
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Fasciculations, Truncal a... OMIM:613728
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di... ORPHA:98764
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... ORPHA:210571
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy OMIM:212130
Intellectual Developmental Disorder, X-Linked 104
Delayed CNS myelination, Ataxia, Tremor, Optic atrophy, Seizure, Spasticity, Cerebral cortical at... OMIM:300983
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Broad-based gait, Neonatal respiratory distress, Ataxia, Dystonia, Crackles... OMIM:610978
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Generalized-onset seizure, Ataxia, Increased neuronal autofluorescent lipopig... ORPHA:79263
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di... ORPHA:314632
Joubert Syndrome 7
Central apnea, Ataxia, Episodic tachypnea, Tachypnea, Oculomotor apraxia, Neonatal breathing dysr... OMIM:611560
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki... ORPHA:512260
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Dystonia, Unsteady gait, Slurred speech, Babinski sign, Dysmetria, ... ORPHA:453521
Xeroderma Pigmentosum, Complementation Group G
Ataxia, Infantile spasms, Tremor, Defective DNA repair after ultraviolet radiation damage, Spasti... OMIM:278780
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased number of peripheral myelinated nerve fibers, Somatic sensory dysfunction, Steppage gai... OMIM:600882
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus OMIM:208700
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Dyspnea, Chorea, Choreoathetosis, Hyperkinetic move... ORPHA:98810
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... OMIM:617087
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal amyotrophy, Fiber type grouping OMIM:614369
Merrf
Myopathy, Ragged-red muscle fibers, Ataxia ORPHA:551
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Striatal Degeneration, Autosomal Dominant 1
Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Degeneration of the... OMIM:609161
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc... OMIM:605355
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Generalized non-motor (absence) sei... ORPHA:98811
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Broad-based gait, Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia, A... OMIM:617862
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, R... ORPHA:240103
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus OMIM:611092
Cln5 Disease
Cerebellar atrophy, Generalized-onset seizure, Ataxia, Abnormal central motor function, Tremor, I... ORPHA:228360
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Impaired distal proprioception, Tremor, Impaired vibration sensation in the lower limbs, Hyperton... ORPHA:137898
Charcot-Marie-Tooth Disease, Type 4B3
Distal sensory impairment, Gait disturbance, Brain atrophy, Loss of ambulation, Myelin outfolding... OMIM:615284
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Ataxia, Impaired pain... OMIM:608703
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination, Dystonia OMIM:250850
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Seizure, Leukodystr... OMIM:612438
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizu... ORPHA:2590
Charcot-Marie-Tooth Disease, Type 4D
Segmental peripheral demyelination/remyelination, Impaired distal proprioception, Unsteady gait, ... OMIM:601455
Metachromatic Leukodystrophy
Ataxia, Chorea, Babinski sign, Optic atrophy, Spastic tetraplegia, Tetraplegia, Seizure, Gait dis... OMIM:250100
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Severe demyelination of the white matter, Corpu... OMIM:236792
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia ORPHA:284271
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Delayed peripheral ... ORPHA:464282
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... OMIM:609200
Developmental And Epileptic Encephalopathy 37
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure... OMIM:616981
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Spinocerebellar Ataxia 13
Cerebellar atrophy, Impaired distal vibration sensation, Optic atrophy, Abnormal pyramidal sign, ... OMIM:605259
Spinal Muscular Atrophy, Type Iii
Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cel... OMIM:253400
Spastic Paraplegia, Ataxia, And Mental Retardation
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Impaired vi... OMIM:607565
Spinocerebellar Ataxia 42
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... OMIM:616795
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Myopathy ORPHA:206599
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Writer's cramp, Rig... ORPHA:98759
Spinocerebellar Ataxia 49
Cerebellar atrophy, Ataxia, Unsteady gait, Babinski sign, Dysmetria, Dysdiadochokinesis, Abnormal... OMIM:619806
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Dista... OMIM:608673
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Symmetric peripheral demyelination, Corpus callosum atrophy, Abnormal cerebellum morpholo... OMIM:169500
Spinocerebellar Ataxia 17
Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Parkinsonism, Diffuse cerebral atrophy, R... OMIM:607136
Juvenile Neuronal Ceroid Lipofuscinosis
Bilateral tonic-clonic seizure, Apnea, Episodic tachypnea, Parkinsonism, Poor motor coordination,... ORPHA:79264
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... ORPHA:178464
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... ORPHA:98856
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Epileptic spasm, Seizure OMIM:619561
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Myoclonus, Difficulty walking OMIM:613608
Vitamin B12-Unresponsive Methylmalonic Acidemia
Ataxia, Paraparesis, Respiratory insufficiency, Dehydration, Choreoathetosis, Seizure, Tetraparesis ORPHA:27
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorabl... ORPHA:240085
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Axonal degeneration, Impaired distal vibration sensation, Distal ... OMIM:614436
Myopathy And Diabetes Mellitus
Respiratory distress, Impaired vibratory sensation, Inability to walk, Babinski sign, Progressive... ORPHA:2596
Posterior Column Ataxia With Retinitis Pigmentosa
Broad-based gait, Ataxia, Impaired vibration sensation in the lower limbs, Optic atrophy, Impaire... OMIM:609033
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Broad-based gait, Dysmetria, Gait ataxia, Seizure, Dysdiadochokinesis, Cerebe... OMIM:224050
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Optic atrophy, Babinski sign, Dysmetria, Gait ... OMIM:210000
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... OMIM:607346
Spinocerebellar Ataxia 46
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign, Sensory axonal ne... OMIM:617770
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki... OMIM:300894
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Klhl9-Related Early-Onset Distal Myopathy
Ankle flexion contracture, Intrinsic hand muscle atrophy, Abnormality of the calf musculature, Am... ORPHA:399081
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Dehydration, Choreoathetosis, Seizure, Dystonia ORPHA:79312
Myopathy, Distal, With Anterior Tibial Onset
Myopathy OMIM:606768
Holocarboxylase Synthetase Deficiency
Respiratory distress, Seizure, Tachypnea, Ataxia ORPHA:79242
Leber Hereditary Optic Neuropathy
Postural tremor, Myopathy, Ataxia ORPHA:104
Spinocerebellar Ataxia 50
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... OMIM:620158
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, CNS... OMIM:607694
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Choreoathetosis, Seizu... OMIM:301020
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Ataxia, Poor coordination, Focal motor seizure, Generalized non-motor (absence)... OMIM:617665
Developmental And Epileptic Encephalopathy 32
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... OMIM:616366
Spinocerebellar Ataxia Type 2
Postural tremor, Parkinsonism, Kinetic tremor, Olivopontocerebellar hypoplasia, Chorea, Spinal co... ORPHA:98756
Developmental And Epileptic Encephalopathy 42
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... OMIM:617106
Charcot-Marie-Tooth Disease Type 4A
Impaired distal proprioception, Decreased number of large peripheral myelinated nerve fibers, Ina... ORPHA:99948
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia OMIM:128235
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, Seizure, Myoclonus, Difficulty walking, Dystonia, Lethargy, Spasticity OMIM:617829
Spinocerebellar Ataxia 27B, Late-Onset
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia OMIM:620174
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability t... ORPHA:93952
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... ORPHA:101112
Spinocerebellar Ataxia Type 28
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t... ORPHA:101109
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Impa... OMIM:607080
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ... OMIM:619862
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... OMIM:615424
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Cerebral atr... OMIM:617435
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Ataxia, Spastic tetraparesis, Tachypnea, Babinski sign, Respiratory failure, Gait disturbance, Lo... OMIM:615838
Developmental And Epileptic Encephalopathy 4
Delayed CNS myelination, Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraple... OMIM:612164
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Spasticity, Choreoathetosis, Seizure, Hemi... OMIM:606777
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l... ORPHA:94124
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyramidal sign, Clumsiness, Focal... ORPHA:216873
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Seizure, Cerebellar vermis atrophy OMIM:618501
Abetalipoproteinemia
CNS demyelination, Ataxia, Peripheral demyelination OMIM:200100
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Cerebellar vermis hypoplasia, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Intention tremor, ... ORPHA:98
Adult-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Bradykinesia, Upper limb muscle weakness, Po... ORPHA:171442
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Myopathy,... OMIM:167320
Leukodystrophy, Hypomyelinating, 2
Dystonia, Ataxia, Facial palsy, Demyelinating motor neuropathy, Rigidity, Head titubation, Babins... OMIM:608804
3-Methylglutaconic Aciduria Type 3
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis ORPHA:67047
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Somatic sensory dysfunction, Tremor, Dyspnea,... ORPHA:90117
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Seizure, Myoc... ORPHA:139485
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Seizur... OMIM:612016
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Bilateral tonic-clonic seiz... ORPHA:100988
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Ataxia, Cerebellar hypoplasia, Limb dystonia OMIM:620270
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Delayed CNS myelination, Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head tituba... OMIM:618877
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101075
X-Linked Charcot-Marie-Tooth Disease Type 3
Peripheral axonal neuropathy, Somatic sensory dysfunction, Tremor, Inability to walk, Gait distur... ORPHA:101077
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... OMIM:616719
Developmental And Epileptic Encephalopathy 67
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Gene... OMIM:618141
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Impaired vibratory sensation, Lower limb spasticity, Peripheral axonal neuropathy, Optic atrophy,... OMIM:620221
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebellar atrophy, Dystonia, Ataxia, Dysesthesia, Head titubation, Abnormal pyramidal sign, Cere... ORPHA:527497
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai... OMIM:615528
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Restrictive ventilatory defect, Cough, Decreased DLCO OMIM:616414
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Inability to walk, Abnormal posturing, Opisthotonus, Seizure, Tip-toe gait,... ORPHA:216866
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Optic disc pallor, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ata... OMIM:616204
Developmental And Epileptic Encephalopathy 109
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Dyspnea, Typical absence... OMIM:620145
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Optic atrophy, Dysmetria, Gait ataxia... ORPHA:529665
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Paraparesis, Pro... OMIM:612736
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation OMIM:619405
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Dystonia, Ataxia, Bilateral tonic-clonic seizur... ORPHA:313772
Monomelic Amyotrophy
Tremor, Distal upper limb amyotrophy, Degeneration of anterior horn cells, Fasciculations ORPHA:65684
Huntington Disease-Like 1
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Clumsiness... ORPHA:157941
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Optic atrophy, Difficulty walking, Cere... OMIM:619425
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized-onset seizure, Facial palsy, Tremor, Degeneration of anterior horn cells, Myoclonus, ... OMIM:159950
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Impaired distal proprioception, Unsteady gait, Impaired distal vibration sens... OMIM:617633
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... OMIM:160565
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Lower limb spasticity, Dystonia, Ataxia, Clonic seizure, Gait ataxia, Seizure, Gait disturbance, ... OMIM:614458
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Focal-onset seizure, Chorea, Babinski sign, Atypical absence status... ORPHA:225147
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Spastic dysarthr... ORPHA:240094
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Dysdiadochokinesis, Gait disturbance, Bradykinesia ORPHA:228169
Developmental And Epileptic Encephalopathy 30
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Respiratory distress OMIM:616341
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Br... ORPHA:329284
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Babinski sign, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb... OMIM:616924
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Unsteady gait, Optic atrophy, Abnormal pyramidal sign, Spastic tetrap... OMIM:256600
Juvenile Huntington Disease
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progre... ORPHA:248111
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Type 1 muscle fiber pred... ORPHA:424107
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Focal motor seizure, Cerebral atrophy, Seizure, Gait dis... ORPHA:542310
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy OMIM:614229
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Spinocerebellar Ataxia 5
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme... OMIM:600224
Perry Syndrome
Hypoventilation, Central hypoventilation, Akinesia, Parkinsonism, Tremor, Rigidity, Respiratory i... OMIM:168605
Epilepsy, Progressive Myoclonic, 12
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Difficulty walking OMIM:619191
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ataxia, Ragged-red muscle fibers, Babinski sign, Myopathy, Spasticity OMIM:618242
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Broad-based... OMIM:615490
Primary Dystonia, Dyt4 Type
Respiratory distress, Torticollis, Generalized dystonia, Involuntary movements, Upper limb postur... ORPHA:98805
Spinal Muscular Atrophy, Type Ii
Skeletal muscle atrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cell... OMIM:253550
High Altitude Pulmonary Edema
Orthopnea, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema ORPHA:330012
Spinocerebellar Ataxia 44
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls OMIM:617691
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... ORPHA:208513
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101078
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... ORPHA:352403
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... ORPHA:264675
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Difficulty walking, Dystonia, Brain atrophy, Cer... ORPHA:306669
Spinocerebellar Ataxia, Autosomal Recessive 7
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Un... OMIM:609270
Hsd10 Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Seizure, Frontotemporal cerebral atroph... ORPHA:391417
Scapuloperoneal Myopathy, X-Linked Dominant
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... OMIM:300695
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Seizure, Abnormal CNS myelination, D... ORPHA:477673
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Optic atrophy, Ce... ORPHA:263516
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Par... ORPHA:53583
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... OMIM:615400
Congenital Disorder Of Glycosylation, Type Iid
Myopathy, Decreased muscle mass OMIM:607091
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Limb dystonia, Cerebellar atrophy, Torticollis, Head titubation, Abnormal pyramidal sign, Limb at... OMIM:617560
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Seizure, Dystonia OMIM:612126
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Somatic sensory dysfunction, Demyelinating sensory neuropathy, Opti... ORPHA:101085
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Parkins... OMIM:614298
Hypokalemic Periodic Paralysis, Type 2
Myopathy, Periodic paralysis OMIM:613345
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... ORPHA:598
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... OMIM:618317
Methionine Malabsorption Syndrome
Seizure, Tachypnea OMIM:250900
Joubert Syndrome 9
Oculomotor apraxia, Seizure, Apnea, Episodic tachypnea OMIM:612285
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Peripheral hypomyelination, Vocal cord paralysis, Distal sensory impairment OMIM:616287
Postencephalitic Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Oculogyric crisis, Rigidity, Babinski sign, Abno... ORPHA:97349
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi... ORPHA:1170
Spinocerebellar Ataxia 4
Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... OMIM:600223
Congenital Myopathy 16
Scapular winging, Postural tremor, Flexion contracture, Tongue tremor, EMG: myopathic abnormalities OMIM:618524
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... OMIM:620386
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Involuntary movements, Tongue fasciculations, Respiratory insufficiency ORPHA:238329
Joubert Syndrome
Ataxia, Episodic tachypnea, Apnea, Tremor, Seizure, Gait disturbance, Oculomotor apraxia, Abnorma... ORPHA:475
Myopathy, Distal, Tateyama Type
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... OMIM:614321
Bethlem Myopathy 2
Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter OMIM:616471
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Ataxia, Polyhydramnios, Tremor, Recurrent pneumonia, Dehydration, Opisthoto... OMIM:616271
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Delayed CNS myelination, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Ch... OMIM:619725
Oculopharyngeal Muscular Dystrophy
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology ORPHA:270
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Hydrops fetalis ORPHA:45452
Spinocerebellar Ataxia 8
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... OMIM:608768
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... OMIM:619738
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination OMIM:608236
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cramp, Facial palsy, Tre... OMIM:128100
Nemaline Myopathy 7
Fatty replacement of skeletal muscle, Nemaline bodies, Knee flexion contracture, Shoulder girdle ... OMIM:610687
Dravet Syndrome
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen... ORPHA:33069
Spinocerebellar Ataxia Type 10
Cerebellar atrophy, Lower limb spasticity, Generalized-onset seizure, Kinetic tremor, Unsteady ga... ORPHA:98761
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Flexion contracture, Degenera... OMIM:301830
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to... OMIM:616710
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Tachypnea, Cough OMIM:263000
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Babinski sign, Impaired ... OMIM:614409
Spinocerebellar Ataxia 34
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Abnormal pyramidal sign, Limb ataxia, G... OMIM:133190
Joubert Syndrome 3
Central apnea, Ataxia, Episodic tachypnea, Oculomotor apraxia, Neonatal breathing dysregulation OMIM:608629
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Facial palsy, Quadriceps muscle atrophy, Calf muscle hypertrophy, Shoulder girdle muscle weakness... OMIM:611307
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... ORPHA:363654
Pelizaeus-Merzbacher Disease
Writer's cramp, Tremor, Sudanophilic leukodystrophy, Abnormal pyramidal sign, Choreoathetosis, In... OMIM:312080
Spinocerebellar Ataxia 26
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia OMIM:609306
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... OMIM:618129
Joubert Syndrome 30
Seizure, Tachypnea, Apnea OMIM:617622
Propionic Acidemia
Apnea, Tachypnea, Dehydration, Seizure, Dystonia, Limb hypertonia OMIM:606054
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Broad-based gait, Impaired pain sensation, Dyspnea, Impaired distal vibration sensation, Impaired... ORPHA:435387
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebellar atrophy, Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, G... OMIM:618170
Beta-Ketothiolase Deficiency
Ataxia, Edema, Tachypnea, Dehydration, Seizure, Extrapyramidal dyskinesia, Cough, Spasticity ORPHA:134
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Bilateral tonic-clonic seizure, Chorea, Athetosis, Seizure, Focal impaired awareness seiz... ORPHA:382
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Centrally nucleated skeletal muscle fibers, A... OMIM:271150
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... ORPHA:266
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers, Ataxia, Cerebral atrophy OMIM:614116
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Gaucher Disease Type 2
Respiratory distress, Dystonia, Cough, Generalized myoclonic seizure, Spasticity, Abnormal patter... ORPHA:77260
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Huntington Disease-Like 3
Caudate atrophy, Ataxia, Chorea, Unsteady gait, Abnormal pyramidal sign, Seizure, Abnormality of ... OMIM:604802
4H Leukodystrophy
Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Dysmetria, Seizure, Progressive gait ataxia, D... ORPHA:289494
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Spinocerebellar Ataxia 21
Ataxia, Parkinsonism, Akinesia, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Pro... OMIM:607454
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Chorea, Babinski sign, Optic atrophy, Dysmetria, Gait ataxia, Bradykinesia, S... OMIM:610217
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration, Gait ataxia ORPHA:438134
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Cerebral atrophy OMIM:618637
Autosomal Recessive Spastic Paraplegia Type 46
Cerebellar atrophy, Lower limb spasticity, Peripheral axonal neuropathy, Broad-based gait, Ataxia... ORPHA:320391
Muscular Hypertonia, Lethal
Respiratory distress, Hypertonia, Pneumonia OMIM:254120
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p... ORPHA:98902
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function OMIM:165300
Spinocerebellar Ataxia With Epilepsy
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myopathy, Myoc... ORPHA:254881
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Dystonia OMIM:261630
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... ORPHA:97240
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Parkinsonism,... OMIM:183090
Tetanus
Respiratory distress, Tremor, Rigidity, Tachypnea, Opisthotonus, Hypertonia, Spasticity of pharyn... ORPHA:3299
X-Linked Immunoneurologic Disorder
Hemiplegia/hemiparesis, Hypertonia, Myopathy ORPHA:2571
Acute Lung Injury
Respiratory distress, Pneumonia, Edema, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy ORPHA:366
Episodic Ataxia, Type 5
Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seiz... OMIM:613855
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Seizure, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Seizure, Ataxia OMIM:618951
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Axonal loss, Steppage gait, Onion bulb formation, Distal sensory impairment OMIM:614455
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti... ORPHA:442835
Oculopharyngodistal Myopathy 4
Postural tremor, Autophagic vacuoles, Tremor, Fatty replacement of skeletal muscle, Increased var... OMIM:619790
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... OMIM:612999
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Inability to walk, Tremor OMIM:616269
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca... ORPHA:420492
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Peripheral axonal neuropathy, Somatic sensory dysfunction, Dysmetria, Titubat... ORPHA:98771
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
East Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Generalized-onset seizure, Ataxia, Inability to... ORPHA:199343
Oculopharyngodistal Myopathy 2
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... OMIM:618940
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Abnormal cerebellum morphol... OMIM:256850
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Cerebellar atrophy, Progressive cerebellar ataxia, Febrile seizure (within the age range of 3 mon... OMIM:618412
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Combined Malonic And Methylmalonic Acidemia
Generalized clonic seizure, Dehydration, Seizure, Focal impaired awareness seizure, Dystonia ORPHA:289504
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Focal-onset seizure, Myocl... OMIM:619092
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy, Ataxia OMIM:551500
Spinocerebellar Ataxia Type 19/22
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... ORPHA:98772
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Charcot-Marie-Tooth Disease, Type 4B1
Myelin outfoldings, Irregular myelin loops, Facial palsy, Distal sensory impairment OMIM:601382
Mohr-Tranebjaerg Syndrome
Tremor, Spasticity, Intrinsic hand muscle atrophy, Dystonia, Abnormal posturing OMIM:304700
Developmental And Epileptic Encephalopathy 24
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-moto... OMIM:615871
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Generalized-onset seizure, Ataxia, Focal-onset seizure, Generalized non-mot... OMIM:620166
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Tongue fascicul... OMIM:618823
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal py... ORPHA:282166
Tremor-Ataxia-Central Hypomyelination Syndrome
Ataxia, Postural tremor, Impaired distal proprioception, Focal-onset seizure, Babinski sign, Opti... ORPHA:447896
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tremor OMIM:601068
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Seizure, Status epilepticus, Gait ataxia OMIM:612075
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... ORPHA:101
Childhood-Onset Nemaline Myopathy
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... ORPHA:171439
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Cerebellar gliosis, Babinski si... OMIM:616505
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers OMIM:618992
Leukodystrophy, Hypomyelinating, 15
Cerebellar atrophy, Ataxia, Optic atrophy, Abnormal pyramidal sign, Cerebral atrophy, CNS hypomye... OMIM:617951
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... OMIM:254110
Alternating Hemiplegia Of Childhood
Respiratory distress, Ataxia, Bilateral tonic-clonic seizure, Apnea, Tremor, Rigidity, Chorea, Ep... ORPHA:2131
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology OMIM:605253
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... OMIM:301310
Multiple Sulfatase Deficiency
Cerebellar atrophy, Ataxia, Cerebral atrophy, CNS demyelination, Spasticity, Peripheral demyelina... OMIM:272200
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Diaphragmatic paralysis, Respiratory insufficiency, Seizure, Respiratory fa... OMIM:614399
Myopathy, Myofibrillar, 2
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... OMIM:608810
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... OMIM:608423
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Fatty replacement of skeletal muscle, Vocal cord paralysis, Myopathy, Increased variabili... ORPHA:397744
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Exaggerated startle response, Clonus, Status epilepticus, Myoclonus, Spasti... OMIM:618201
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmetria, CNS hypomy... OMIM:614381
Infant Acute Respiratory Distress Syndrome
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure, Pulmonary edema ORPHA:70587
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Cogwheel ... ORPHA:254886
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Tremor, Tongue tremor, Hypertonia, Impaired vibratory sensation,... ORPHA:466768
Acute Interstitial Pneumonia
Crackles, Pericardial effusion, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemi... ORPHA:79126
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... OMIM:123320
Combined Malonic And Methylmalonic Aciduria
Dehydration, Generalized clonic seizure OMIM:614265
Spinocerebellar Ataxia, Autosomal Recessive 33
Dilated fourth ventricle, Broad-based gait, Head titubation, Gait ataxia, Focal impaired awarenes... OMIM:620208
Spinocerebellar Ataxia Type 36
Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Limb myoclonus, Limb atax... ORPHA:276198
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Ataxia, Babinski sign, Gait disturbance, Progressive spastic paraplegia OMIM:612020
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Focal-onset seizure, Hemiparesis, Seizure, Status epilepticus, Spasticity, Intent... OMIM:614307
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Delayed CNS myelination, Ataxia, Head titubation, Babinski sign, Optic atrophy, Dysmetria, Leukod... OMIM:618688
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Tremor, Fatty ... ORPHA:329478
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Spastic tetraparesis, Tremor, Optic atrophy, Seizure OMIM:619470
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Speech apraxia, Clonus, Tachypnea, Abnormal pyramidal sign, Poor co... ORPHA:415
Myasthenic Syndrome, Congenital, 25, Presynaptic
Myopathy, Flexion contracture, Generalized amyotrophy OMIM:618323
Rigid Spine Syndrome
Hip contracture, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Myop... ORPHA:97244
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... OMIM:603689
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Clumsiness, Amyotrophy of an... ORPHA:399086
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Gait disturbance ORPHA:99014
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... ORPHA:99750
Joubert Syndrome With Oculorenal Defect
Seizure, Tachypnea, Ataxia, Apnea ORPHA:2318
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, Ataxia, Cerebral dysmyelination, Dysmyelinating leukodystrophy, Spastic tetraplegia,... OMIM:609136
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... OMIM:608099
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Postural tremor, Chorea, Atrophy/Degeneration affecting the brainstem, Optic ... ORPHA:98755
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ... OMIM:612937
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Congenital Myopathy 4B, Autosomal Recessive
Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, EMG: myopathic abnormalities,... OMIM:609284
Mitochondrial Complex I Deficiency, Nuclear Type 15
Myopathy, Flexion contracture, Spastic tetraplegia, Dystonia OMIM:618237
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... ORPHA:247234
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Impaired vibration sensation at ank... ORPHA:90103
Ataxia-Telangiectasia-Like Disorder 1
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,... OMIM:604391
Malignant Hyperthermia, Susceptibility To, 3
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Hypertonia, An... OMIM:154276
Myopathy, Distal, 3
Clumsiness, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contractur... OMIM:610099
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Autosomal Dominant Spastic Paraplegia Type 9B
Peripheral axonal neuropathy, Postural tremor, Atrophy of the spinal cord, Babinski sign, Focal d... ORPHA:447757
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Frequent falls, Tremor, Slurred speech, Spastic diplegia, Tetraple... ORPHA:206443
Spinocerebellar Ataxia 6
Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata... OMIM:183086
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Nipah Virus Disease
Respiratory distress, Tremor, Seizure, Myoclonus, Cough ORPHA:99825
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... OMIM:605637
Spontaneous Periodic Hypothermia
Ataxia, Tremor, Seizure, Gait disturbance, Abnormal pattern of respiration ORPHA:29822
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia OMIM:614867
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Babinski sign, Optic atrophy, Vestibular areflexia, Dysmetria, Gait ataxia, Progressive cerebella... ORPHA:504476
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Myopathy OMIM:255100
Neutral Lipid Storage Disease With Myopathy
Myopathy, Increased muscle lipid content, Fasciculations OMIM:610717
Severe Neurodegenerative Syndrome With Lipodystrophy
Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop... ORPHA:363400
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Babinski sign, Abnormal pyramidal sign, Limb ataxia, Dysmetri... OMIM:603516
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Tachypnea, Diaphragmatic paralysis, Respiratory failure, Inspiratory stridor, Ventilator dependen... OMIM:604320
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Bilateral toni... ORPHA:352582
Malaria
Respiratory distress, Gait imbalance ORPHA:673
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Ataxia, Edema, Spastic hemiparesis, Tachypnea, Dehydration, Seizure, Myoclonus, Spasticity ORPHA:20
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Focal-onset seizure, Dysmetria, Pseudobu... ORPHA:438114
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea... OMIM:300580
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Skeletal m... OMIM:602124
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Seizure, Hypertonia, Dystonia ORPHA:26792
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... OMIM:602433
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti... OMIM:300623
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Pyruvate Carboxylase Deficiency
Ataxia, Infantile spasms, Generalized clonic seizure, Tremor, Tachypnea, Abnormal pyramidal sign,... ORPHA:3008
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Delayed CNS myelination, Ataxia, Tremor, Inability to walk, Seizure, Hypertonia, Cerebellar hypop... OMIM:619556
Hypermanganesemia With Dystonia 2
Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babi... OMIM:617013
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Pontocerebell... OMIM:618060
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Ataxia, Dyspnea, Vocal ... OMIM:211530
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:454836
Spastic Ataxia 3, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Dystonia, Loss of ambulation,... OMIM:611390
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... OMIM:608807
Biotinidase Deficiency
Seizure, Tachypnea, Ataxia, Apnea OMIM:253260
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... OMIM:300770
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... ORPHA:59135
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:611705
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Delayed CNS myelination, Multifocal seizures, Ataxia, Diffuse cerebral atroph... OMIM:617710
Sialidosis Type 2
Ataxia, Tremor, Dyspnea, Hydrops fetalis, Pedal edema, Seizure, Ascites ORPHA:87876
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Joubert Syndrome 25
Oculomotor apraxia, Ataxia, Cerebellar hypoplasia OMIM:616781
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Seizure, Gait disturbance OMIM:603472
Developmental And Epileptic Encephalopathy 1
Dystonia, Infantile spasms, Tonic seizure, Spastic tetraparesis, Focal-onset seizure, Dyspnea, Ab... OMIM:308350
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor... OMIM:215470
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... OMIM:619566
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Lower limb spasticity, Peripheral axonal neuropathy, Babinski sign, Impaired vibration sensation ... ORPHA:352641
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ... OMIM:602481
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Generalized-onset seizure, Respiratory insufficiency due to muscle weakness... ORPHA:254875
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... OMIM:310440
Cardiomyopathy, Dilated, 2H
Tachypnea, Cardiorespiratory arrest OMIM:620203
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Seizure, Progres... ORPHA:309246
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy, Calf muscle hy... ORPHA:86812
Serotonin Syndrome
Clonus, Tremor, Rigidity, Tachypnea, Seizure, Hypertonia, Myoclonus ORPHA:43116
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Impaired distal proprioception, Decreased number of large peripheral myelinated nerve fibers, Han... OMIM:162400
Muscular Dystrophy, Barnes Type
Myopathy, Muscular dystrophy OMIM:158800
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Glutaric Acidemia I
Rigidity, Delayed myelination, Spastic diplegia, Opisthotonus, Choreoathetosis, Seizure, Symmetri... OMIM:231670
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Limb muscle weakness, Myopathy, Type 1 muscle fiber predominance, Type 2 m... OMIM:603034
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl... OMIM:137440
Huntington Disease-Like 2
Rigidity, Chorea, Bradykinesia, Dystonia, Cerebral cortical atrophy, Action tremor OMIM:606438
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... ORPHA:240071
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Choreoathetosis, Seizure, Cerebellar hypoplasia,... OMIM:619422
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Episodic Ataxia Type 1
Respiratory distress, Poor coordination, Clumsiness, Choreoathetosis, Tip-toe gait, Hypertonia ORPHA:37612
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness... ORPHA:353327
Heart-Hand Syndrome, Slovenian Type
Myopathy OMIM:610140
Mitochondrial Complex I Deficiency, Nuclear Type 25
Myopathy, Nemaline bodies OMIM:618246
Ethylene Glycol Poisoning
Ataxia, Episodic respiratory distress, Tachypnea, Slurred speech, Seizure, Myoclonus, Abnormal pa... ORPHA:31826
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Seizure, Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Facial palsy, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Parapa... OMIM:607483
Recessive Mitochondrial Ataxia Syndrome
Impaired vibratory sensation, Ataxia, Dysmetria, Seizure, Gait disturbance, Positive Romberg sign... ORPHA:94125
Charcot-Marie-Tooth Disease And Deafness
Tremor, Distal sensory impairment, Axonal loss, Steppage gait, Gait disturbance OMIM:118300
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Polyhydramni... ORPHA:596
Parkinsonism With Polyneuropathy
Resting tremor, Diffuse cerebral atrophy, Rigidity, Bradykinesia, Parkinsonism with favorable res... OMIM:619279
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Peripheral axonal neuropathy, Axonal degeneration/regeneration, Tremor, Inability to walk, Limb t... OMIM:218000
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... OMIM:272750
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegi... ORPHA:391428
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Seizure, Bradykinesia, Hypertonia, Dysto... OMIM:261640
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis, Palatal tremor, Cerebral cortica... OMIM:113610
Vitamin B12-Responsive Methylmalonic Acidemia
Respiratory insufficiency, Dehydration ORPHA:28
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic at... ORPHA:98768
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven... ORPHA:2257
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Tachypnea OMIM:620085
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic movements, Dystonia, Lethargy, Limb hype... OMIM:233910
Alzheimer Disease 3
Dystonia, Spastic tetraparesis, Babinski sign, Seizure, Gait disturbance, Myoclonus, Abnormality ... OMIM:607822
Dna2-Related Mitochondrial Dna Deletion Syndrome
Limb-girdle muscle weakness, Multiple joint contractures, Myopathy ORPHA:352470
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal... ORPHA:1145
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Abnormal posturing, Tachypnea OMIM:614857
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Ataxia, Myoclonus, Dehydration OMIM:560000
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Peripheral axonal neuropathy, Ataxia, Involuntary movements, Chorea, Optic atroph... ORPHA:401768
Trigeminal Neuralgia
Somatic sensory dysfunction, Cranial nerve compression, Paresthesia, CNS demyelination, Periphera... ORPHA:221091
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Ataxia, Spastic tetraparesis, Dystonic gait, Abnormal pyramidal sign, Titubation, Athet... ORPHA:280219
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Seizure, Bronchiectasis, Abnormal mucociliary clearance OMIM:619466
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Edema, Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration... OMIM:619574
Glutamate-Cysteine Ligase Deficiency
Myopathy, Ataxia ORPHA:33574
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Corpus callosum atrophy, Babinski sign, Impaired distal vibration sensation, Spastic para... OMIM:616586
Charcot-Marie-Tooth Disease Type 4C
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Frequent falls, Impai... ORPHA:99949
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Congenital Muscular Dystrophy Without Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co... ORPHA:370980
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Nemaline Myopathy 8
Myofibrillar myopathy, Flexion contracture, Facial palsy, Nemaline bodies OMIM:615348
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Apnea, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia,... OMIM:300055
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... OMIM:253601
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Segmental peripheral demyelination/remy... ORPHA:255210
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Chronic Hiccup
Dehydration ORPHA:396
Adrenoleukodystrophy
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Seizure, Neurodegen... OMIM:300100
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Optic neuropathy, Delayed myelination, Axonal degeneration, Poor ... ORPHA:478029
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Cerebral atrophy, ... OMIM:252160
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... OMIM:300696
Peho Syndrome
Cerebellar atrophy, Optic atrophy, Seizure, Myoclonus, Peripheral dysmyelination, Neuronal loss i... OMIM:260565
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Peripheral axonal neuropathy, Dystonia, Tremor, Chorea, Impaired distal vibra... OMIM:606002
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Hemiplegia/hemiparesis, Chorea, Choreoathetosis, Dystonia ORPHA:289916
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Riboflavin Transporter Deficiency
Optic disc pallor, Ataxia, Facial palsy, Tremor, Seizure, Myoclonus, Cerebral cortical atrophy, A... ORPHA:97229
Ataxia-Oculomotor Apraxia 3
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Dysmetria, Distal sensory impairment, O... OMIM:615217
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Polyhydramnios, Dehydration OMIM:616069
Tangier Disease
Peripheral axonal neuropathy, Impaired pain sensation, Impaired temperature sensation, Facial dip... OMIM:205400
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia OMIM:605909
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Central Core Disease
Multiple joint contractures, Myopathy, Type 1 muscle fiber predominance, Pelvic girdle muscle wea... ORPHA:597
Malignant Hyperthermia, Susceptibility To, 2
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... OMIM:154275
Hypokalemic Periodic Paralysis, Type 1
Myopathy, Periodic paralysis OMIM:170400
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting OMIM:609452
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia OMIM:619724
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Spasticity, Ataxia, Increased variability in muscle fiber diameter OMIM:125250
Cardiocranial Syndrome, Pfeiffer Type
Torticollis, Episodic tachypnea ORPHA:2872
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m... ORPHA:171445
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Distal sensory impai... OMIM:607831
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Apnea, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Seizure,... OMIM:618056
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar... OMIM:618598
Multifocal Atrial Tachycardia
Dyspnea, Tachypnea ORPHA:3282
Pyruvate Dehydrogenase E2 Deficiency
Speech apraxia, Paroxysmal dystonia, Broad-based gait, Babinski sign, Hypertonia, Gait disturbanc... ORPHA:79244
Isolated Glycerol Kinase Deficiency
Myopathy ORPHA:408
Spinocerebellar Ataxia Type 8
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Hypoplasia of the pons, Rigidity, Unste... ORPHA:98760
Aicardi-Goutieres Syndrome 6
Rigidity, Tremor, Leukodystrophy, Dystonia, Loss of ambulation OMIM:615010
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... OMIM:615422
Combined Oxidative Phosphorylation Defect Type 7
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ina... ORPHA:254930
Cocaine Intoxication
Respiratory distress, Pulmonary edema, Bilateral tonic-clonic seizure, Involuntary movements, Tre... ORPHA:90068
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Dystonia OMIM:619651
Familial Isolated Dilated Cardiomyopathy
Myopathy ORPHA:154
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... OMIM:610921
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Transient Neonatal Diabetes Mellitus
Seizure, Dehydration ORPHA:99886
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy OMIM:605809
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho... ORPHA:64753
Distal Myotilinopathy
EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib... ORPHA:98911
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... OMIM:310300
Leber Optic Atrophy
Postural tremor, Myopathy, Ataxia, Dystonia OMIM:535000
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Polyhydramnios, Akinesia, Edema OMIM:607598
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... ORPHA:254864
Holocarboxylase Synthetase Deficiency
Hypertonia, Seizure, Tachypnea, Hyperventilation OMIM:253270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Facial palsy, Achilles tendon contracture, Babinski sign, Elbow flexion contracture, Skeletal mus... OMIM:608840
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea OMIM:616501
Glutathionuria
Tremor, Asthma, Dysdiadochokinesis, Action tremor OMIM:231950
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal ed... ORPHA:100057
Spinocerebellar Ataxia Type 42
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, U... ORPHA:458803
Myopathy With Extrapyramidal Signs
Peripheral axonal neuropathy, Ataxia, Clonus, Tremor, Chorea, Optic atrophy, Clumsiness, Choreoat... OMIM:615673
Manganese Poisoning
Postural tremor, Akinesia, Cogwheel rigidity, Bradykinesia, Hypertonia, Gait disturbance, Abnorma... ORPHA:306682
Myopathy, Myofibrillar, 6
Scapular winging, Facial palsy, Diaphragmatic paralysis, Knee flexion contracture, Generalized am... OMIM:612954
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe... OMIM:619473
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Cerebral atrophy, Choreoathetosis, Seizure, Myoclonus, Dystonia, Episodic ataxia, Lethargy OMIM:312170
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Seizure, Dystonia,... OMIM:617664
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Congenital Myopathy 9A
Tongue fasciculations, Akinesia, Oligohydramnios OMIM:618822
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Tremor, Inability to walk, Seizure, Brain atrophy, Spasticity OMIM:618718
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion ORPHA:50251
Adducted Thumbs Syndrome
Myopathy, Arthrogryposis multiplex congenita OMIM:201550
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Somatic sensory dysfunction, Peripheral dysmyelination ORPHA:101082
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Polyhydramnios, Akinesia OMIM:619334
Saccharopinuria
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia, Seizure ORPHA:3124
Orofaciodigital Syndrome Type 6
Ataxia, Episodic tachypnea, Apnea, Tremor, Seizure, Gait disturbance ORPHA:2754
Nemaline Myopathy 2
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Thenar muscle atrophy, Fatty replacement ... OMIM:256030
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Bilateral tonic-clonic seizure, Tremor, Blepharospasm, Myoclonus OMIM:607876
Isolated Atp Synthase Deficiency
Respiratory distress, Ataxia, Spastic paraplegia, Tetraplegia, Myoclonic seizure, Seizure, Dystonia ORPHA:254913
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Neuroferritinopathy
Resting tremor, Caudate atrophy, Abnormal dentate nucleus morphology, Parkinsonism, Involuntary m... ORPHA:157846
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Seizure, Ataxia, Tremor OMIM:608799
Spinocerebellar Ataxia 27A
Cerebellar atrophy, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Abno... OMIM:193003
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Hypertonia, Gait disturbance, Photosensitive myoclonic seizure, Aplasia/Hypoplasia of the... ORPHA:1192
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Hydrops fetalis, Chylopericardium, Cough, Pu... ORPHA:2414
Joubert Syndrome 2
Central apnea, Ataxia, Episodic tachypnea, Seizure, Oculomotor apraxia, Neonatal breathing dysreg... OMIM:608091
Perching Syndrome
Respiratory distress OMIM:617055
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Ataxia, Tremor, Poor coordination, Gait disturbance, Eating-induced se... ORPHA:544254
Mohr-Tranebjaerg Syndrome
Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnorm... ORPHA:52368
Myopathy Due To Myoadenylate Deaminase Deficiency
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy OMIM:615511
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar atrophy, Ataxia, Vestibular areflexia, Limb ataxia, Gait ataxia, Axonal loss, Positive... OMIM:614575
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration OMIM:251850
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... OMIM:277460
Unilateral Polymicrogyria
Apnea, Epistaxis, Infantile spasms, Involuntary movements, Focal-onset seizure, Spastic tetrapleg... ORPHA:268943
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Seizure OMIM:300934
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... ORPHA:411703
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy ORPHA:1369
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Respiratory arrest, Tachypnea, Bilateral tonic-clonic seizure OMIM:201475
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... OMIM:265120
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema ORPHA:542323
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus... OMIM:168601
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness, Fasciculations, Oligohydr... ORPHA:1143
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Ataxia, Infantile spasms, Chorea, Spastic tetraplegia, Cerebral atrophy, Ga... OMIM:618321
Aceruloplasminemia
Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Rigidity, Chorea, Lim... ORPHA:48818
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Episodic tachypnea OMIM:615160
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Axonal degeneration, Impaired vibration sensation in the lower limbs,... ORPHA:88628
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hemiparesis, Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy OMIM:540000
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Ataxia, Centrally nucleated skeletal muscle fibers, Flexion contracture,... OMIM:248800
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Optic atrophy, A... OMIM:234200
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination OMIM:616733
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... OMIM:619178
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Seizure, Apneic... ORPHA:348
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Myopathy, Hyperkinetic movements, Limb-girdle muscular dystrophy, Truncal ataxia ORPHA:369847
Lethal Recessive Chondrodysplasia
Respiratory distress, Polyhydramnios, Edema ORPHA:1423
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Central Diabetes Insipidus
Seizure, Dehydration ORPHA:178029
Cerebrooculofacioskeletal Syndrome 1
Seizure, Recurrent pneumonia, Dehydration OMIM:214150
Scorpion Envenomation
Hemifacial spasm, Ataxia, Edema, Tremor, Tachypnea, Seizure, Hyperkinetic movements, Paresthesia,... ORPHA:466677
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... ORPHA:217563
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Skeletal muscle hypertrophy, Macroglossia, Myopathy ORPHA:2349
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Mitochondrial Complex I Deficiency, Nuclear Type 28
Lower limb spasticity, Generalized-onset seizure, Akinesia, Abnormal pyramidal sign, Choreoatheto... OMIM:618249
Mitochondrial Myopathy And Sideroblastic Anemia
Myopathy, Generalized limb muscle atrophy ORPHA:2598
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Diaphragmatic paralysis, Paradoxical respiration, Frequent falls, Craniofac... OMIM:620011
Glycogen Storage Disease X
Myopathy, Rhabdomyolysis OMIM:261670
Cholera
Tachypnea, Dehydration, Seizure, Aspiration pneumonia, Hyperventilation ORPHA:173
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Myopathy ORPHA:300179
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... ORPHA:254361
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Broad-based gait, Exaggerated startle response, Ataxia, Seizure, Dystonia ORPHA:438216
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Increased endomysia... ORPHA:353
Molybdenum Cofactor Deficiency, Complementation Group A
Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Seizure, Axonal loss, ... OMIM:252150
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Tachypnea OMIM:613320
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... ORPHA:227510
Familial Cold Urticaria
Dysesthesia, Dehydration ORPHA:47045
Coronary Arterial Fistula
Orthopnea, Tachypnea, Pedal edema, Pulmonary arterial hypertension, Exertional dyspnea ORPHA:2041
Succinic Acidemia
Respiratory distress OMIM:600335
Developmental And Epileptic Encephalopathy 46
Generalized-onset seizure, Tremor, Cerebral atrophy, Seizure, Limb hypertonia OMIM:617162
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Rigidity, Nemaline bodies, Limb muscle weakness, Hypertonia, Type 1 muscle fiber pr... OMIM:161800
Xeroderma Pigmentosum, Complementation Group F
Ataxia, Tremor, Defective DNA repair after ultraviolet radiation damage, Brain atrophy, Deficient... OMIM:278760
Carnitine Deficiency, Systemic Primary
Respiratory distress, Dehydration OMIM:212140
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Myopathy, Rhabdomyolysis, Ataxia ORPHA:713
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Infantile spasms, Severe demyelination of the white matter, Atrophy of the spinal cord, O... ORPHA:79282
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Rigidity, Focal-onset seizure, Optic atrophy, Spastic tetraplegia, Chiari type I malforma... OMIM:618476
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Seizure, Shuffling gait,... OMIM:311510
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Cerebellar atrophy, Ataxia, Seizure, Dysdiadochokinesis, Peripheral hypomyelination, Chronic axon... OMIM:612780
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Seizure, Ataxia, Paraplegia ORPHA:927
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy ORPHA:91130
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity OMIM:616840
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Corpus callosum atrophy, Abnormal cerebellum morphology, Babinski sign, Impaired vibratio... ORPHA:447753
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Flexion contracture, Myopathy ORPHA:157973
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Seizure OMIM:614741
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Seizure, Tremor, Dehydration OMIM:251100
Ataxia-Oculomotor Apraxia 4
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Atrophy/Degeneration affecting the brai... OMIM:616267
Joubert Syndrome 1
Central apnea, Hemifacial spasm, Ataxia, Episodic tachypnea, Oculomotor apraxia, Neonatal breathi... OMIM:213300
Oromandibular Dystonia
Respiratory distress, Torticollis, Generalized dystonia, Blepharospasm, Hyperkinetic movements, L... ORPHA:93958
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:98863
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration, Olivopont... OMIM:146500
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:98853
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Seizure, Dystonia, Limb hypert... ORPHA:70594
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Clonus, Poor coordination, Optic atrophy, Spastic tetraplegia, Spastic diplegia, Gait ata... OMIM:616878
Hypophosphatasia, Childhood
Myopathy OMIM:241510
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Pneumonia, Episodic tachypnea, Pericardial effusion, Tachypnea ORPHA:26793
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Neuronal loss in central ... OMIM:168600
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Edema of the dorsum of feet, Bilateral tonic-clonic seizure, Infantile spas... ORPHA:544503
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Incoordination, Ataxia, Involuntary movement... ORPHA:209905
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle muscle weakness OMIM:615156
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Broad-based gait, Resting tremor, Parkinsonism, Tremor, Seizure, Shuffling... ORPHA:3077
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Corpus callosum atrophy, Hof... OMIM:601162
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neuropathy, Progressive... ORPHA:2821
Ataxia-Telangiectasia
Abnormality of chromosome stability, Ataxia, Tremor, Seizure, Gait disturbance, Spasticity ORPHA:100
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... OMIM:255320
Combined Oxidative Phosphorylation Deficiency 47
Dehydration OMIM:618958
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... ORPHA:1302
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Bilateral tonic-clonic seizure, Tremor, Inability to w... OMIM:617988
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Increased endomysial connecti... ORPHA:75840
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Waddling gait, Speech apraxia, Cerebellar atrophy, Dystonia, Ataxia, Tremor, Inability to walk, C... OMIM:615356
Myoclonic-Astatic Epilepsy
Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Simple febrile se... ORPHA:1942
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:98933
Primary Progressive Freezing Gait
Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Shuffling gait, Gait imbalance, D... ORPHA:75567
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:98855
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Bradykinesia, Blepharospasm, Falls, Dystonia, Neuronal loss in c... ORPHA:683
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Impaired vibration sensation in the lower limbs, Gait ataxia, Spastic dysarthria, ... ORPHA:95433
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Epileptic spasm, Speech apraxia, Bilateral tonic-clonic se... ORPHA:314655
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ... OMIM:620249
Isovaleric Acidemia
Seizure, Dehydration OMIM:243500
Mitochondrial Complex I Deficiency, Nuclear Type 14
Myopathy OMIM:618236
Leukoencephalopathy With Ataxia
Action tremor, Limb ataxia, Optic neuropathy, Gait ataxia OMIM:615651
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, Clonic seizure, Hypertonia, Leukodystrophy, Intention tremor, Ataxia, Seizure, Febrile se... OMIM:619475
Mercury Poisoning
Respiratory distress, Tremor, Dyspnea, Seizure, Respiratory failure, Interstitial pneumonitis, Dy... ORPHA:330021
Cystinosis
Gait disturbance, Abnormal pyramidal sign, Dehydration ORPHA:213
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Myopathy, ... ORPHA:272
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Optic atrophy, CNS hypomyelination, Seizure, Status epilepticus, Neurodegener... OMIM:616239
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Seizure OMIM:237310
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Skeletal muscle atrophy, Cerebral palsy, Flexion contracture, Sk... ORPHA:682
Phosphoglycerate Kinase 1 Deficiency
Myopathy, Rhabdomyolysis, Ataxia OMIM:300653
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Autosomal Agammaglobulinemia
Sinusitis, Bronchiectasis, Dehydration, Cough ORPHA:33110
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a... OMIM:606612
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Chorea, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Truncal ataxia, Muscle fibe... ORPHA:369840
Tay-Sachs Disease
Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Laryngeal dystonia, Typical abse... ORPHA:845
Marinesco-Sjögren Syndrome
Skeletal muscle atrophy, Ataxia, Rigidity, Myopathy, Hypertonia, Muscular dystrophy, Aplasia/Hypo... ORPHA:559
Japanese Encephalitis
Respiratory distress, Dystonia, Bilateral tonic-clonic seizure, Weakness due to upper motor neuro... ORPHA:79139
Isolated Succinate-Coq Reductase Deficiency
Skeletal muscle atrophy, Ataxia, Spastic tetraparesis, Babinski sign, Knee flexion contracture, L... ORPHA:3208
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Abnormal cerebellum morphology, Kinetic tremor OMIM:190310
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Calf muscle hypertrophy, Limb muscle weakness, Fasciculations OMIM:313200
Pulmonary Alveolar Microlithiasis
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... ORPHA:60025
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Dystonia, Parkinsonism, Facial palsy, Rigidity, Babinski sign, Ragged-re... OMIM:258450
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... ORPHA:206569
Biotinidase Deficiency
Respiratory distress, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Apnea, Focal moto... ORPHA:79241
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ... ORPHA:119
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Tremor, Seizure, Hyperkinetic movements, Upper limb spasticity, G... ORPHA:457240
Congenital Myopathy 3 With Rigid Spine
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... OMIM:602771
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Neonatal respiratory distress, Ataxia, Bilateral tonic-clonic seizure, Apne... OMIM:618426
Acquired Partial Lipodystrophy
Myopathy ORPHA:79087
Methylmalonyl-Coa Epimerase Deficiency
Spasticity, Dehydration OMIM:251120
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Abnormality of the ... ORPHA:600
Reticular Dysgenesis
Dehydration ORPHA:33355
Netherton Syndrome
Seizure, Emphysema, Asthma, Dehydration ORPHA:634
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Seizure, Neonatal respiratory distress OMIM:615042
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Autosomal Dominant Optic Atrophy Plus Syndrome
Limb-girdle muscle weakness, Spastic paraplegia, Ataxia, Myopathy ORPHA:1215
Joubert Syndrome 5
Central apnea, Ataxia, Episodic tachypnea, Oculomotor apraxia, Neonatal breathing dysregulation OMIM:610188
Lymphatic Malformation 7
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... OMIM:617300
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Lower limb muscle weakness, Muscular dystrophy, Myopathy OMIM:615980
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Tetraplegia, Opisthotonus, Seizure, Hypertonia, Status epilepticus, Pulmona... OMIM:619272
Caribbean Parkinsonism
Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, P... ORPHA:97355
Intellectual Developmental Disorder, X-Linked 12
Cerebellar vermis hypoplasia, Tremor, Abnormal cerebellum morphology, Cryptorchidism, Hyperkineti... OMIM:300957
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... ORPHA:57
Moebius Syndrome
Respiratory distress, Poor coordination, Clumsiness, Dysdiadochokinesis, Gait disturbance OMIM:157900
Charcot-Marie-Tooth Disease Type 4B2
Tremor, Inability to walk, Optic atrophy, Vocal cord paralysis, Distal sensory impairment, Poor f... ORPHA:99956
De Sanctis-Cacchione Syndrome
Ataxia, Bilateral tonic-clonic seizure, Axonal degeneration, Optic atrophy, Scissor gait, Babinsk... OMIM:278800
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Ataxia, Tremor, Rigidity, Myoclonic seizure, Seizure, Respiratory failure, Bradypnea... OMIM:617186
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... ORPHA:171433
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Limb muscle weakness, In... ORPHA:486815
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Nonimmune hydrops fetalis, Akinesia, Polyhydramnios, Opisthotonus, S... OMIM:608013
Congenital Myasthenic Syndrome
Waddling gait, Ataxia, Sudden episodic apnea, Polyhydramnios, Intermittent episodes of respirator... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Waddling gait, Ataxia, Sudden episodic apnea, Polyhydramnios, Intermittent episodes of respirator... ORPHA:98914
Glycogen Storage Disease Iii
Myopathy, Distal amyotrophy OMIM:232400
Harlequin Ichthyosis
Respiratory insufficiency, Dehydration ORPHA:457
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Seizure, Respirat... OMIM:220110
Complex Regional Pain Syndrome
Somatic sensory dysfunction, Edema of the upper limbs, Involuntary movements, Dysesthesia, Pedal ... ORPHA:83452
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Vocal cord paralysis, Upper airway obstruction, Stridor, Cough ORPHA:142
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Dehydration OMIM:251000
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Dilated fourth ventricle, Multifocal seizures, Ataxia, Cerebellar vermis hypo... ORPHA:572798
Mitochondrial Complex I Deficiency, Nuclear Type 11
Myopathy OMIM:618234
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Myopathy, Ataxia, Gait ataxia OMIM:613077
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Peripheral edema,... ORPHA:99106
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Pneumonia, Edema, Tachypnea ORPHA:36234
Muscular Dystrophy, Congenital, Megaconial Type
Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy OMIM:602541
Complete Atrioventricular Septal Defect
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... ORPHA:1329
Wolcott-Rallison Syndrome
Seizure, Ascites, Difficulty walking, Dehydration ORPHA:1667
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles... ORPHA:98913
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tachypnea, Respiratory insufficiency, Tetraplegia, Seizure, Respiratory failure, Myoclonus, Dystonia OMIM:618278
Cerebral Visual Impairment
Optic disc pallor, Cerebral palsy, Optic nerve hypoplasia, Optic atrophy, Clumsiness, Central ner... ORPHA:447788
Sneddon Syndrome
Tremor, Seizure, Chorea, Hemiparesis ORPHA:820
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Upper limb muscle weakness, Distal amyotrophy, Lower limb muscle weakness, EMG: myopathic abnorma... ORPHA:99939
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Generalized-onset seizure, Ataxia, Dystonia, Tremor, Tachypnea, Dysmetria, Seizure, Truncal ataxi... OMIM:220111
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Seizure, Delayed CNS myelination, Neurodegeneration OMIM:620210
Lafora Disease
Ataxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generali... ORPHA:501
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Unsteady gait, Ataxia, Neurodegeneration OMIM:615919
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Tachypnea ORPHA:860
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Optic atrophy, Cerebral atrophy, Head ... ORPHA:314404
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Amyloidosis, Hereditary, Transthyretin-Related
Peripheral axonal neuropathy, Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, H... OMIM:105210
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Apnea, Tachypnea, Oculomotor apraxia, Recurrent aspiration pneumonia, Chronic lung disease ORPHA:397715
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy, Tip-toe gait, Gait disturbance ORPHA:83629
Triosephosphate Isomerase Deficiency
Respiratory distress, Respiratory insufficiency due to muscle weakness, Tremor, Unsteady gait, Re... OMIM:615512
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral nerve morphology by anatomical site, Steppage gait, Abnormal peripheral myeli... ORPHA:168563
Fetal Akinesia Deformation Sequence
Polyhydramnios, Respiratory insufficiency, Akinesia ORPHA:994
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Pericardial effusion, Tachypnea, Hypoxemia, R... ORPHA:555874
Autosomal Dominant Optic Atrophy, Classic Form
Skeletal muscle atrophy, Scapular winging, Ataxia, Spastic paraplegia, Hemiparesis, Myopathy, Wea... ORPHA:98673
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Inability to walk, Myoclonic seizure, Gait ataxia OMIM:619383
Generalized Pseudohypoaldosteronism Type 1
Wheezing, Dehydration, Cough ORPHA:171876
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Abnormal motor neuron morpho... ORPHA:52430
Congenital Myopathy 12
Respiratory insufficiency due to muscle weakness, Polyhydramnios, Akinesia OMIM:612540
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Palpebral edema, Polyhydramnios, Seizure, Hypertonia ORPHA:50810
Autosomal Recessive Spastic Paraplegia Type 55
Lower limb spasticity, Optic neuropathy, Babinski sign, Optic atrophy, Distal sensory impairment,... ORPHA:320375
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Seizure, Status epilepticus, Myoclo... OMIM:607426
Infantile Krabbe Disease
Respiratory distress, Lower limb spasticity, Spastic diplegia, Opisthotonus, Ankle clonus, Seizur... ORPHA:206436
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, Shuffling gait, Dystonia, Parkins... ORPHA:411602
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Optic disc pallor, Generalized-onset seizure, Tremor, Hypoesthesia,... OMIM:619737
Hereditary Angioedema Type 1
Respiratory distress, Tongue edema, Pharyngeal edema, Intestinal edema, Edema of the dorsum of ha... ORPHA:100050
Stuve-Wiedemann Syndrome 2
Respiratory distress, Pulmonary arterial hypertension OMIM:619751
Choreoacanthocytosis
Caudate atrophy, Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Impai... ORPHA:2388
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Skeletal muscle atrophy, Parkinsonism, Facial palsy, Rigidity, Ragged-red muscle ... OMIM:157640
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion contracture, ... ORPHA:178148
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Generalized-onset seizure, Postural tremor, Edema, Action tremor, Unsteady gait, Gait ataxia, Ana... OMIM:254900
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Granu... OMIM:601104
Typical Nemaline Myopathy
Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f... ORPHA:171436
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo... OMIM:609560
Sting-Associated Vasculopathy, Infantile-Onset
Tachypnea OMIM:615934
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Enteric Anendocrinosis
Dehydration ORPHA:83620
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Myoclonic seizure, Fasciculations, Brai... OMIM:620327
Familial Nasal Acilia
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:613561
Hereditary Sensory And Autonomic Neuropathy Type 5
Painless fractures due to injury, Decreased number of small peripheral myelinated nerve fibers, P... ORPHA:64752
Arima Syndrome
Dyspnea, Tachypnea, Ataxia OMIM:243910
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Dehydration ORPHA:103910
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Increased mitochondrial number, Dysmetria OMIM:615578
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Dysdiadocho... OMIM:617675
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia, Spastic tetraplegia, Seizure, Hypertonia, Generalized tonic seizure OMIM:619147
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, CNS hypomyelinat... OMIM:618527
Muscle-Eye-Brain Disease
Hemiplegia/hemiparesis, Hypertonia, Myopathy ORPHA:588
Bethlem Myopathy
Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ... ORPHA:610
Exercise-Induced Malignant Hyperthermia
Ataxia, Crackles, Tachypnea, Seizure, Hypocapnia ORPHA:466650
Hypercalcemia, Infantile, 1
Dehydration OMIM:143880
Histiocytoid Cardiomyopathy
Tachypnea, Seizure, Cough, Hemiplegia, Pulmonary edema ORPHA:137675
Rh Deficiency Syndrome
Hypoxemia, Tachypnea, Oligohydramnios ORPHA:71275
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress OMIM:616974
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Infantile spasms, G... ORPHA:1934
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Left ventricular ... OMIM:619040
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Nemaline bodies, Flexion contracture, Myopathy OMIM:616549
Glutaryl-Coa Dehydrogenase Deficiency
Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, Infantile spasms, Tremor, Rigid... ORPHA:25
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Seizure, Polyhydramnios, Akinesia OMIM:225790
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Weakness of facial musculature, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy ORPHA:352447
Cystathioninuria
Tremor, Seizure ORPHA:212
Niemann-Pick Disease Type C
Generalized-onset seizure, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Leuk... ORPHA:646
Hyperparathyroidism, Neonatal Severe
Dyspnea, Tachypnea OMIM:239200
Isolated Permanent Neonatal Diabetes Mellitus
Ataxia, Bilateral tonic-clonic seizure, Dehydration, Apraxia, Generalized myoclonic seizure ORPHA:99885
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Ataxia, Facial palsy, Tremor, Rigidity, Quadriceps muscle weakness, Ragged-red mu... ORPHA:254892
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Seizure, Myoclonus, G... OMIM:616640
O'Sullivan-Mcleod Syndrome
Tremor, Atrophy of the spinal cord, Somatic sensory dysfunction, Fasciculations ORPHA:99965
Stt3B-Cdg
Respiratory distress, Seizure ORPHA:370924
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Oligohydramnios ORPHA:261304
Joubert Syndrome With Renal Defect
Ataxia, Apnea, Tremor, Seizure, Gait disturbance, Oculomotor apraxia, Abnormal pattern of respira... ORPHA:220497
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Polyhydramnios ORPHA:2759
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Respiratory insufficiency, Seizure, Respiratory failure, Anasarca, Cough, Emphysema, A... OMIM:613658
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... ORPHA:70588
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Chanarin-Dorfman Syndrome
Myopathy, Ataxia OMIM:275630
Wolfram Syndrome 1
Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Seizure OMIM:222300
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Double Outlet Right Ventricle
Tachypnea ORPHA:3426
Acquired Methemoglobinemia
Respiratory distress, Seizure, Hypoxemia, Dyspnea ORPHA:464453
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Seizure OMIM:615597
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Distal arthrogryposis, Ataxia, Myopathy ORPHA:42
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Dehydration OMIM:251110
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Tremor, EMG: myopathic abnormalities ORPHA:457365
Sneddon Syndrome
Facial palsy, Tremor, Seizure, Impaired distal tactile sensation, Hemiplegia OMIM:182410
Typhoid
Ataxia, Epistaxis, Tremor, Hypertonia, Cough ORPHA:99745
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, ... OMIM:609454
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Ataxia, Centrally nucleated skeletal muscle fibers, Ba... OMIM:607459
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodegeneration, Spasticity ORPHA:803
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Myopathy ORPHA:166002
Perry Syndrome
Tremor, Parkinsonism, Abnormality of extrapyramidal motor function, Central hypoventilation ORPHA:178509
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Sengers Syndrome
Myopathy OMIM:212350
Oculopharyngodistal Myopathy 1
Respiratory distress, Ataxia, Hypercapnia, Reduced forced vital capacity, Respiratory insufficien... OMIM:164310
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Inc... OMIM:255125
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Seizure ORPHA:89844
Multiple Pterygium Syndrome, Lethal Type
Polyhydramnios, Akinesia, Edema OMIM:253290
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop... OMIM:255160
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Myopathy, Abnorma... ORPHA:367
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Ataxia, Flexion contracture, Abnormal pyramidal sign, Myopathy, Weakness of facial musculature OMIM:201470
Neuroleptic Malignant Syndrome
Extrapyramidal muscular rigidity, Oculogyric crisis, Pulmonary embolism, Tremor, Chorea, Dehydrat... ORPHA:94093
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Dehydration OMIM:264350
Angelman Syndrome
Optic disc pallor, Broad-based gait, Ataxia, Cerebral dysmyelination, Infantile spasms, Tremor, I... ORPHA:72
Synaptic Congenital Myasthenic Syndromes
Waddling gait, Hypoventilation, Neonatal respiratory distress, Respiratory distress, Respiratory ... ORPHA:98915
Mogs-Cdg
Respiratory distress, Hypoventilation, Pulmonary edema, Apnea, Edema, Polyhydramnios, Seizure, Dy... ORPHA:79330
Neuromuscular Oculoauditory Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Unsteady gait, Peripheral hypomyelination, Sens... OMIM:618733
Chitayat Syndrome
Respiratory distress, Polyhydramnios, Tracheomalacia OMIM:617180
Sialidosis Type 1
Ataxia, Tremor, Slurred speech, Seizure, Gait disturbance, Myoclonus ORPHA:812
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration OMIM:602199
Axial Osteomalacia
Myopathy OMIM:109130
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Tularemia
Respiratory distress, Pleural effusion, Pneumonia, Cough ORPHA:3392
Mcleod Syndrome
Myopathy, Chorea, Rhabdomyolysis, Dystonia OMIM:300842
Congenital Short Bowel Syndrome
Dehydration OMIM:615237
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Ataxia, Tremor, Delayed myelination, Seizure, Gait imbalance, Myoclonus ORPHA:98794
Joubert Syndrome With Ocular Defect
Ataxia, Apnea, Tremor, Seizure, Gait disturbance, Oculomotor apraxia, Abnormal pattern of respira... ORPHA:220493
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Broad-based gait, Pain insensitivity, Ataxia, Distal sensory impairment, Pa... OMIM:256810
Farber Disease
Respiratory distress, Infantile spasms, Paraparesis, Hydrops fetalis, Respiratory insufficiency, ... ORPHA:333
Arthrogryposis Multiplex Congenita 5
Neonatal respiratory distress, Akinesia, Polyhydramnios, Hand tremor, Restrictive ventilatory def... OMIM:618947
Cockayne Syndrome A
Cerebellar atrophy, Ataxia, Abnormal peripheral myelination, Tremor, Optic atrophy, Cerebral atro... OMIM:216400
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Dehydration OMIM:620126
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Myopathy, Increased variability in muscle fiber diameter, Limb dystonia OMIM:604377
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Dehydration OMIM:620125
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... OMIM:255200
Myopathy, Myofibrillar, 1
EMG: myopathic abnormalities, Facial palsy OMIM:601419
Dopamine Beta-Hydroxylase Deficiency
Dyspnea, Rhinitis, Dehydration ORPHA:230
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle fiber atroph... OMIM:619542
Corticosterone Methyloxidase Type I Deficiency
Dehydration OMIM:203400
Corticosterone Methyloxidase Type Ii Deficiency
Dehydration OMIM:610600
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia OMIM:606763
Craniofaciofrontodigital Syndrome
Respiratory distress, Edema, Polyhydramnios, Pericardial effusion, Dyspnea, Hemiparesis, Seizure,... ORPHA:363705
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Tachypnea OMIM:615751
Lujo Hemorrhagic Fever
Respiratory distress, Resting tremor, Bilateral tonic-clonic seizure, Crackles, Facial edema, Non... ORPHA:319213
Lamellar Ichthyosis
Dehydration ORPHA:313
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Dehydration, Oligohydramnios OMIM:208085
Sandifer Syndrome
Torticollis, Abnormal posturing ORPHA:71272
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Somatic sensory dysfunction, Tremor, Dysmetria, Progressive cerebellar ataxia,... ORPHA:502423
Congenital Disorder Of Glycosylation, Type Ij
Apnea, Infantile spasms, Tremor, Respiratory insufficiency, Seizure, Hypertonia OMIM:608093
Chediak-Higashi Syndrome
Ataxia, Tremor, Seizure, Gait disturbance, Neurodegeneration OMIM:214500
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:85329
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Generalized myoclonic seizure, Respiratory distress, Polyhydramnios, Generalized clonic seizure ORPHA:329178
Dend Syndrome
Seizure, Dehydration ORPHA:79134
Colchicine Poisoning
Respiratory distress, Cardiorespiratory arrest, Dehydration ORPHA:31824
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal onset, Tremo... OMIM:614947
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration OMIM:177735
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ataxia, Involuntary movements, Chorea, Spas... ORPHA:506
Glucose/Galactose Malabsorption
Hypertonic dehydration OMIM:606824
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Tachypnea OMIM:613834
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Pain insensitivity, Involuntary movements, Chorea, Dysmetria, Myoclonic sei... OMIM:615273
Dpagt1-Cdg
Epileptic spasm, Ataxia, Akinesia, Tremor, Inability to walk, Focal motor seizure, Seizure, Hyper... ORPHA:86309
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Exaggerated startle response, Caudate atrophy, Cerebellar vermis hypopl... OMIM:615574
Cockayne Syndrome B
Ataxia, Abnormal peripheral myelination, Cerebellar calcifications, Tremor, Optic atrophy, Cerebr... OMIM:133540
Tyrosinemia Type 2
Tremor, Seizure, Ataxia ORPHA:28378
Nasolacrimal Duct Cyst
Intercostal retractions, Periorbital edema, Episodic respiratory distress, Stridor, Paroxysmal dy... ORPHA:141083
Inhalational Anthrax
Respiratory distress, Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gas... ORPHA:247257
Early-Onset Familial Hypoaldosteronism
Dehydration ORPHA:556030
Malignant Hyperthermia Of Anesthesia
Tachypnea, Hypercapnia ORPHA:423
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia ORPHA:2140
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, Ataxia, Generalized clonic seizure, Tremor, Inability to walk, Focal-onset... OMIM:619229
Insulinoma
Tremor, Seizure, Paresthesia, Abnormality of pain sensation, Lethargy, Neuroendocrine neoplasm ORPHA:97279
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax, Seizure, Focal impaired awareness seizure, Limb hypertonia OMIM:620306
Combined Oxidative Phosphorylation Deficiency 11
Myopathy, Tongue fasciculations, Myoclonus OMIM:614922
Slc35A1-Cdg
Respiratory distress, Pneumonia, Hypoxemia ORPHA:238459
Myotonic Dystrophy 1
Respiratory distress, Polyhydramnios OMIM:160900
Immunodeficiency 10
Myopathy OMIM:612783
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Kniest Dysplasia
Respiratory distress, Gait disturbance, Tracheomalacia OMIM:156550
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea, Unsteady gait, Choreoathetosis, Seizure, Hypertonia, Hyperkinetic mo... ORPHA:17
Idiopathic Camptocormia
Myositis, Amyotrophic lateral sclerosis, Parkinsonism, Fatty replacement of skeletal muscle, Abno... ORPHA:1320
Aortic Arch Interruption
Respiratory distress, Tachypnea, Pedal edema, Exertional dyspnea ORPHA:2299
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Edema, Dyspnea, Pneumothorax, Dehydration, Stridor, Seizure, Res... ORPHA:79404
Secondary Short Bowel Syndrome
Dehydration ORPHA:95427
Cystic Fibrosis
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Asthma, Recurrent ... OMIM:219700
Ataxia-Telangiectasia
Sinusitis, Ataxia, Tremor, Inability to walk, Slurred speech, Bronchiectasis, Choreoathetosis, Pr... OMIM:208900
Congenital Myopathy 22B, Severe Fetal
Waddling gait, Respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Ascites, Pleural ... OMIM:620369
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Neonatal asphyxia, Dehydration ORPHA:90791
Agnathia-Otocephaly Complex
Respiratory distress, Polyhydramnios, Tracheomalacia OMIM:202650
Osteootohepatoenteric Syndrome
Asthma, Dehydration OMIM:619377
Scrub Typhus
Tremor, Dyspnea, Seizure, Restrictive ventilatory defect, Cough ORPHA:83317
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Dehydration OMIM:615453
Oculogastrointestinal Muscular Dystrophy
Skeletal muscle atrophy, Myopathy ORPHA:1876
Netherton Syndrome
Hypernatremic dehydration, Allergic rhinitis, Asthma, Angioedema, Chronic rhinitis OMIM:256500
Familial Isolated Hypoparathyroidism
Myopathy ORPHA:2238
Neutral Lipid Storage Disease With Ichthyosis
Ataxia, Myopathy, Shoulder girdle muscle weakness, Increased intramyocellular lipid droplets, EMG... ORPHA:98907
Neutral Lipid Storage Myopathy
Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle atrophy, Myop... ORPHA:98908
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Seizure, Hypertonic dehydration OMIM:125800
Pparg-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus... ORPHA:79083
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Pares... ORPHA:298
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Seizure, Hypertonic dehydration OMIM:304800
Congenital Enterovirus Infection
Respiratory distress, Fetal ascites, Polyhydramnios, Pericardial effusion, Hydrops fetalis, Pleur... ORPHA:292
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Distal sensory impairment ORPHA:477817
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness OMIM:112250
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Odontochondrodysplasia
Respiratory distress ORPHA:166272
Xanthinuria, Type I
Myopathy OMIM:278300
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Seizure, Respiratory failure, Focal impaired awareness seizu... OMIM:616482
Pearson Syndrome
Ataxia, Hydrops fetalis, Dehydration, Corneal stromal edema, Seizure ORPHA:699
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Generalized edema OMIM:271225
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Abnormality ... ORPHA:169189
Adrenal Hypoplasia, Congenital
Dehydration OMIM:300200
Shigellosis
Febrile seizure (within the age range of 3 months to 6 years), Pneumonia, Dehydration ORPHA:810
Myotubular Myopathy With Abnormal Genital Development
Myopathy, Centrally nucleated skeletal muscle fibers OMIM:300219
Congenital Bile Acid Synthesis Defect Type 4
Tremor, Seizure, Ataxia ORPHA:79095
Xp21 Deletion Syndrome
Calf muscle hypertrophy, Myopathy, Spasticity, Decreased muscle mass ORPHA:261476
Congenital Tufting Enteropathy
Dehydration ORPHA:92050
Orofaciodigital Syndrome Type 2
Tachypnea, Bilateral tonic-clonic seizure, Apnea ORPHA:2751
Metachromatic Leukodystrophy
Incoordination, Ataxia, Tremor, Seizure, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Pr... ORPHA:512
Hyperlysinemia
Neck hypertonia, Poor motor coordination, Simple febrile seizure, Spastic tetraparesis, Tremor, R... ORPHA:2203
Paramyotonia Congenita Of Von Eulenburg
Facial muscle hypertrophy, EMG: myopathic abnormalities, Periodic hypokalemic paresis ORPHA:684
Adrenomyodystrophy
Myopathy ORPHA:977
Choanal Atresia
Respiratory distress, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abnormal nasal... ORPHA:137914
Paternal Uniparental Disomy Of Chromosome 6
Generalized myoclonic seizure, Neonatal respiratory distress, Dehydration, Oligohydramnios ORPHA:96191
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Incoordination, Ataxia, Clonus, Involuntary movements, Acute rhabdomyolysis, Babinski sign, Hyper... ORPHA:480864
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Ataxia, Tremor, Oligohydramnios, Respiratory insufficiency, Seizure, Intention tremor OMIM:614052
Diaphanospondylodysostosis
Respiratory distress, Increased nuchal translucency, Respiratory insufficiency, Tracheomalacia, O... OMIM:608022
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration OMIM:143860
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Pericardial effusion, Seizure, Anasarca, Peripheral edema, Pleural e... OMIM:261740
Glucose-Galactose Malabsorption
Dehydration ORPHA:35710
Listeriosis
Respiratory distress, Somatic sensory dysfunction, Ataxia, Pneumonia, Tremor, Hemiparesis, Seizur... ORPHA:533
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers, Painless fractures due to injury OMIM:201300
Oligomeganephronia
Seizure, Dehydration ORPHA:2260
Joubert Syndrome With Hepatic Defect
Ataxia, Apnea, Tremor, Seizure, Gait disturbance, Oculomotor apraxia, Abnormal pattern of respira... ORPHA:1454
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Myopathy ORPHA:257
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Young-Onset Parkinson Disease
Tremor, Rigidity, Bradykinesia, Gait imbalance, Dystonia, Spasticity ORPHA:2828
Chylomicron Retention Disease
Myopathy, EMG: myopathic abnormalities ORPHA:71
Distal Renal Tubular Acidosis
Respiratory insufficiency due to muscle weakness, Dehydration, Paralysis ORPHA:18
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Pericardial effusion, Dyspnea, Ascites, Pulmonary edema OMIM:115197
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ... OMIM:615418
Spondyloepiphyseal Dysplasia Congenita
Waddling gait, Restrictive ventilatory defect, Respiratory distress OMIM:183900
Autosomal Dominant Optic Atrophy And Cataract
Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Extrapyramidal muscular rigidity... ORPHA:67036
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Dehydration OMIM:214700
Familial Renal Glucosuria
Dehydration ORPHA:69076
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... OMIM:616503
Combined Oxidative Phosphorylation Deficiency 3
Ataxia, Bilateral tonic-clonic seizure, Tremor, Dyspnea, Respiratory insufficiency, Seizure, Resp... OMIM:610505
Immunodeficiency 9
Myopathy OMIM:612782
Microvillus Inclusion Disease
Dehydration ORPHA:2290
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness, Parkinsonism OMIM:609286
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Polyhydramnios, Recurrent pneumonia, Edema OMIM:607143
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal mo... OMIM:612199
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myopathy, Rhabdomyolysis ORPHA:228305
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Decreased muscle glycogen content, Upper limb muscle weakness, Shoulder gi... ORPHA:263297
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Seizure, Pulmonary arterial hypertension ORPHA:2519
Oculocerebrorenal Syndrome Of Lowe
Clonus, Respiratory insufficiency, Dehydration, Seizure, Joint swelling ORPHA:534
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Inability to walk, Recurrent pneumonia OMIM:617303
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Polyhydramnios ORPHA:990
Carcinoid Syndrome
Myopathy ORPHA:100093
Revesz Syndrome
Abnormality of chromosome stability, Hypertonia, Ataxia, Cerebellar hypoplasia OMIM:268130
Congenital Tracheomalacia
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... ORPHA:95430
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress ORPHA:226313
Odontochondrodysplasia 1
Respiratory distress OMIM:184260
Acyl-Coa Dehydrogenase 9 Deficiency
Myopathy, EMG: myopathic abnormalities ORPHA:99901
Usher Syndrome
Myopathy, Vestibular areflexia, Ataxia ORPHA:886
Tetrasomy 5P
Respiratory distress, Seizure, Pulmonary arterial hypertension ORPHA:3309
Mitochondrial Trifunctional Protein Deficiency
Babinski sign, Rhabdomyolysis, Skeletal myopathy, Left ventricular hypertrophy, Frequent falls, L... ORPHA:746
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor OMIM:615595
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Alexander Disease
Ataxia, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Respiratory insufficiency, Tetraplegia, ... ORPHA:58
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
African Trypanosomiasis
Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements, Akinesia, Pa... ORPHA:3385
Double Outlet Left Ventricle
Tachypnea ORPHA:3427
Mitochondrial Trifunctional Protein Deficiency 1
Myopathy, Rhabdomyolysis OMIM:609015
Goodpasture Syndrome
Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional dyspnea OMIM:233450
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Tremor OMIM:274150
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Aplasia of the pectoralis major muscle, Myopathy, Facial palsy ORPHA:1358
Pseudoachondroplasia
Skeletal myopathy ORPHA:750
Microsporidiosis
Sinusitis, Pneumonia, Dehydration, Seizure, Rhinitis ORPHA:2552
Renal Hypoplasia
Dehydration ORPHA:93101
Cryptococcosis
Respiratory distress, Pneumonia, Dyspnea, Seizure, Cough, Pleural effusion, Cerebral edema ORPHA:1546
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Flexion contracture, Myopat... OMIM:254940
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Dehydration, Oligohydramnios OMIM:263200
Sepsis In Premature Infants
Abnormal mucociliary clearance, Edema, Dyspnea, Nasal flaring, Abnormal respiratory system physio... ORPHA:90051
Marburg Hemorrhagic Fever
Dysesthesia, Nonproductive cough, Atypical absence status epilepticus, Dehydration, Seizure ORPHA:99826
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Myopathy OMIM:617713
Esophageal Atresia
Respiratory distress, Vocal cord paresis, Polyhydramnios, Episodic respiratory distress, Chronic ... ORPHA:1199
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Seizure OMIM:610536
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Polyhydramnios OMIM:151210
Melas
Abnormal central motor function, Ataxia, Ragged-red muscle fibers, Hemiparesis, Myopathy, Myoclon... ORPHA:550
Lysosomal Acid Lipase Deficiency
Pulmonary arterial hypertension, Ascites, Dehydration ORPHA:275761
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Somatic sensory dysfunction, Pulmonary embolism, Dyspnea, Asthma, Angioedem... ORPHA:3260
Scleromyxedema
Myopathy, Abnormal skeletal muscle morphology ORPHA:167635
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Torticollis, Repeated pneumothoraces, Respiratory insufficiency, Seizure, R... ORPHA:536467
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Elbow flexion contracture, Spastic tetraplegia, Knee flexion contracture, EMG: m... ORPHA:371364
Bartter Syndrome, Type 1, Antenatal
Seizure, Paresthesia, Polyhydramnios, Dehydration OMIM:601678
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Inability to w... ORPHA:365
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Seizure, Dehydration ORPHA:90038
Pfeiffer Syndrome Type 2
Respiratory distress, Seizure, Tracheomalacia ORPHA:93259
Mgat2-Cdg
Respiratory distress, Seizure, Hydrops fetalis, Infantile spasms ORPHA:79329
Combined Oxidative Phosphorylation Deficiency 55
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy OMIM:619743
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Lethargy, Ataxia OMIM:201100
Congenital Myopathy 21 With Early Respiratory Failure
EMG: myopathic abnormalities OMIM:620326
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Seizure, Polyhydramnios ORPHA:223
Aicardi-Goutières Syndrome
Extrapyramidal muscular rigidity, Dystonia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal si... ORPHA:51
Tick-Borne Encephalitis
Speech apraxia, Somatic sensory dysfunction, Generalized-onset seizure, Incoordination, Facial pa... ORPHA:297
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Combined Immunodeficiency Due To Crac Channel Dysfunction
Myopathy ORPHA:169090
Vipoma
Respiratory insufficiency due to muscle weakness, Ascites, Dehydration ORPHA:97282
Bartter Syndrome, Type 2, Antenatal
Seizure, Paresthesia, Polyhydramnios, Dehydration OMIM:241200
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Joint swelling OMIM:612852
Pfeiffer Syndrome Type 3
Respiratory distress, Seizure, Tracheomalacia ORPHA:93260
Juvenile Nephropathic Cystinosis
Seizure, Dehydration ORPHA:411634
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Inability to walk, Stridor, Pulmonary arterial hypertension, Airway obstruc... ORPHA:505248
Musculocontractural Ehlers-Danlos Syndrome
Arthrogryposis multiplex congenita, Decreased muscle mass, Myopathy ORPHA:2953
Stormorken Syndrome
Myopathy OMIM:185070
Abetalipoproteinemia
Ataxia, Babinski sign, Dysmetria, Gait ataxia, Myopathy, Distal lower limb muscle weakness, Upper... ORPHA:14
Pearson Marrow-Pancreas Syndrome
Hydrops fetalis, Dehydration OMIM:557000
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Se... ORPHA:31204
Bartter Syndrome, Type 3
Dehydration OMIM:607364
Achondroplasia
Respiratory distress, Upper airway obstruction, Polyhydramnios OMIM:100800
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Skeletal muscle hypertrophy, Myopathy, Proximal upper limb muscle hypertrophy, Muscle hypertrophy... ORPHA:280365
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Tracheomalacia OMIM:217980
3-Methylglutaconic Aciduria, Type Viii
Apnea, Clonus, Tremor, Hypopnea, Seizure, Respiratory failure, Hypertonia, Dystonia, Respiratory ... OMIM:617248
Localized Scleroderma
Skeletal muscle atrophy, Flexion contracture, Myopathy ORPHA:90289
Truncus Arteriosus
Tachypnea, Pulmonary edema ORPHA:3384
Mucopolysaccharidosis, Type Ii
Papilledema, Seizure, Neurodegeneration OMIM:309900
Schwartz-Jampel Syndrome
Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Blepharospasm, Wrist flex... ORPHA:800
Bartter Syndrome Type 4
Dehydration, Polyhydramnios, Clumsiness ORPHA:89938
Sanjad-Sakati Syndrome
Myopathy ORPHA:2323
Hereditary Xanthinuria
Myopathy ORPHA:3467
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress OMIM:612863
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Dehydration ORPHA:168558
Congenital Tracheal Stenosis
Respiratory distress, Polyhydramnios, Fetal ascites, Neonatal asphyxia, Wheezing, Dyspnea, Upper ... ORPHA:141127
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Seizure OMIM:300968
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Dehydration ORPHA:289548
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Bilateral tonic-clonic seizure, Asthma, Nasal flaring, Poor coordination, Generalized non-motor (... ORPHA:466943
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Respiratory failure, Chylothorax OMIM:620278
Congenital Myopathy 17
Diaphragmatic eventration, Distal arthrogryposis, Myopathy OMIM:618975
Alpha-Mannosidosis, Infantile Form
Facial hypotonia, Ataxia, Spastic paraplegia, Clumsiness, Macroglossia, Myopathy ORPHA:309282
Vici Syndrome
Left ventricular hypertrophy, Myopathy, Abnormal posturing OMIM:242840
Infantile Nephropathic Cystinosis
Dehydration ORPHA:411629
Rodrigues Blindness
Nasal flaring OMIM:268320
Glycogen Storage Disease Xii
Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting OMIM:611881
Arboleda-Tham Syndrome
Respiratory distress, Neonatal respiratory distress, Upper eyelid edema, Seizure, Lower limb hype... OMIM:616268
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress OMIM:231680
Carnitine Palmitoyltransferase Ii Deficiency
Myopathy, Rhabdomyolysis ORPHA:157
Hyperoxaluria, Primary, Type I
Dehydration OMIM:259900
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Seizure, Oligohydramnios ORPHA:177907
Q Fever
Respiratory distress, Pneumonia, Pericardial effusion, Cough, Pleural effusion ORPHA:781
Hereditary Amyloidosis With Primary Renal Involvement
Myopathy ORPHA:85450
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Adnp Syndrome
Respiratory distress, Seizure, Hypertonia, Aspiration ORPHA:404448
Bohring-Opitz Syndrome
Seizure, Dandy-Walker malformation, Delayed peripheral myelination OMIM:605039
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Polyhydramnios OMIM:618188
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress ORPHA:1555
Acquired Generalized Lipodystrophy
Myopathy, Calf muscle pseudohypertrophy ORPHA:79086
Arterial Tortuosity Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Cardiorespiratory arrest ORPHA:3342
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Chronic lung disease OMIM:613848
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:109
Insensitivity To Pain, Congenital, With Anhidrosis
Decreased number of small peripheral myelinated nerve fibers, Pain insensitivity OMIM:256800
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Impaired pain sensation, Asthma, Paresthesia, Oligohydramnios ORPHA:3206
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Danon Disease
Myocardial necrosis, Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy,... OMIM:300257
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion... ORPHA:340
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Ascites, Polyhydramnios OMIM:617156
Hurler Syndrome
Abnormal CNS myelination, Neurodegeneration OMIM:607014
Multiple Endocrine Neoplasia Type 1
Atypical absence status epilepticus, Dehydration ORPHA:652
Coccidioidomycosis
Respiratory distress, Pneumonia, Seizure, Pleural empyema, Cough, Exudative pleural effusion ORPHA:228123
Ramos-Arroyo Syndrome
Respiratory distress, Xerostomia ORPHA:1051
Cystinosis, Nephropathic
Dehydration OMIM:219800
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Polyhydramnios, Stridor, Seizure, Tra... OMIM:114290
Tuberous Sclerosis Complex
Respiratory distress, Epileptic spasm, Infantile spasms, Focal-onset seizure, Seizure, Respirator... ORPHA:805
Gitelman Syndrome
Respiratory distress, Paralysis, Pericardial effusion, Focal-onset seizure, Paresthesia ORPHA:358
Oculoauriculovertebral Spectrum With Radial Defects
EMG: myopathic abnormalities ORPHA:2549
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Myopathy, Type 1 muscle fiber predominance OMIM:614557
Wolfram Syndrome
Myopathy, Ataxia ORPHA:3463
Barth Syndrome
Skeletal myopathy OMIM:302060
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress OMIM:260400
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress OMIM:123790
Stromme Syndrome
Myopathy OMIM:243605
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Dehydration, Hypocapnia ORPHA:90794
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased number of large peripheral myelinated nerve fibers, Incoordination OMIM:223900
Rubinstein-Taybi Syndrome 1
Respiratory distress, Incoordination, Polyhydramnios, Poor coordination, Unsteady gait, Seizure OMIM:180849
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Interstitial pneumonitis, Pneumonia ORPHA:37042
Toxic Epidermal Necrolysis
Respiratory distress, Restrictive ventilatory defect, Cough ORPHA:537
Plague
Respiratory distress, Edema, Unsteady gait, Slurred speech, Acute infectious pneumonia ORPHA:707
Schinzel-Giedion Syndrome
Respiratory distress, Epileptic spasm, Recurrent pneumonia, Vocal cord paralysis, Seizure, Hypert... ORPHA:798
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension ORPHA:210122
Primary Triglyceride Deposit Cardiomyovasculopathy
Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali... ORPHA:565612
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Elbow flexion contracture, EMG: myopathic abnormalities, Wrist drop, Muscl... ORPHA:1900
Primary Fanconi Renotubular Syndrome
Dehydration ORPHA:3337
Eisenmenger Syndrome
Respiratory distress, Generalized edema, Increased pulmonary vascular resistance, Wheezing, Pedal... ORPHA:97214
Proximal Renal Tubular Acidosis
Dehydration ORPHA:47159
Mucopolysaccharidosis, Type Vii
Neurodegeneration OMIM:253220
Glycerol Kinase Deficiency
Myopathy, Muscular dystrophy OMIM:307030
Scimitar Syndrome
Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough ORPHA:185
Multiple Endocrine Neoplasia, Type Iib
Myopathy OMIM:162300
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Seizure, Respiratory failure, Status epilepticus ORPHA:2556
Meier-Gorlin Syndrome 1
Respiratory distress, Emphysema OMIM:224690
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2554
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Myopathy OMIM:612541
Doors Syndrome
Respiratory distress, Bilateral tonic-clonic seizure, Polyhydramnios, Focal impaired awareness se... ORPHA:79500
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:536545
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea ORPHA:2330
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis OMIM:305100
Isolated Arrhinia
Respiratory distress ORPHA:1134
Osteoglophonic Dysplasia
Respiratory distress OMIM:166250
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Seizure, Oligohydramnios ORPHA:2255
Williams Syndrome
Ataxia, Involuntary movements, Tremor, Dysmetria, Macroglossia, Myopathy, Abnormality of extrapyr... ORPHA:904
Generalized Arterial Calcification Of Infancy
Respiratory distress, Polyhydramnios, Edema, Pericardial effusion, Hydrops fetalis, Seizure, Pulm... ORPHA:51608
1P36 Deletion Syndrome
Hemiplegia/hemiparesis, Myopathy, Camptodactyly of finger ORPHA:1606
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Polyhydramnios OMIM:306955
8Q24.3 Microdeletion Syndrome
Respiratory distress, Seizure, Oligohydramnios ORPHA:508488
Microform Holoprosencephaly
EMG: myopathic abnormalities ORPHA:280200
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Delayed peripheral myelination ORPHA:364577
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Seizure, Difficulty walking ORPHA:480880
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Polyhydramnios OMIM:617088
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Xerostomia, ... ORPHA:95455
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Flexion contracture, Myopathy ORPHA:3042
Nijmegen Breakage Syndrome
Neurodegeneration OMIM:251260
Pmm2-Cdg
Respiratory distress, Abnormality of coordination, Ataxia, Lymphedema, Pericardial effusion, Seiz... ORPHA:79318
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax, Oligohydramnios ORPHA:3404
Leptospirosis
Respiratory distress, Pleural effusion, Cough ORPHA:509
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress ORPHA:83617
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Neonatal respiratory distress, Respiratory acidosis OMIM:614748
Primrose Syndrome
Neurodegeneration, Seizure, Ataxia OMIM:259050
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Waddling gait, Recurrent pneumonia, Respiratory distress ORPHA:99646
Dermatomyositis
Inflammatory myopathy ORPHA:221
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn... ORPHA:99125
Alström Syndrome
Respiratory distress, Somatic sensory dysfunction, Incoordination, Ataxia, Typical absence seizur... ORPHA:64
Proteus Syndrome
Myofibrillar myopathy, Decreased muscle mass ORPHA:744

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tpp1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tpp1.

No publications found that use IMPC mice or data for Tpp1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Tpp1em1(IMPC)Hmgu Exon Deletion Mice
Tpp1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Tpp1tm182377(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter