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Gene: Tpp1 MGI:1336194

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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 predicted to be associated to Tpp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Sensory axonal neuropathy, Motor axonal neuropathy, Impaired tactil... ORPHA:98765
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Inability t... OMIM:617672
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... ORPHA:98769
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ... OMIM:616053
Spinocerebellar Ataxia 37
Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Spinocerebellar Ataxia Type 43
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Cogwheel rigidity, Distal sensory impairment... ORPHA:497764
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Spasticity, Cerebellar atrophy, Seizure, Chiari type I malformation, Babinski sign, Delay... OMIM:619742
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Broad-based gait, Basal lamina onion bulb formation, Difficulty walking, Peri... OMIM:614895
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Seizure, Leukodystrophy, Hemiplegia, Tremor, Abnormality of extrapyramidal motor func... OMIM:614561
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Nonprogressive cerebellar a... ORPHA:94122
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait OMIM:616410
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Abasia, Ataxia OMIM:209100
Spinocerebellar Ataxia 43
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,... OMIM:617018
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor ORPHA:217012
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor ORPHA:423296
Peroxisome Biogenesis Disorder 8B
Spasticity, Spastic paraparesis, Leukodystrophy, Peripheral demyelination, Loss of ambulation, Cl... OMIM:614877
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Impaired pain sensation, Hand tremor, Difficulty walking, Peripheral demyelination, Distal sensor... OMIM:618279
Null Syndrome
Optic atrophy, CNS hypomyelination, Progressive spastic paraplegia, Difficulty walking, Inability... ORPHA:280234
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Tremor, Seizure, Ataxia OMIM:213000
Autosomal Spastic Paraplegia Type 58
Spasticity, Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Frequent falls, Fasciculations, C... ORPHA:397946
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy OMIM:605388
Spinocerebellar Ataxia Type 5
Incoordination, Gait disturbance, Cerebellar atrophy, Slurred speech ORPHA:98766
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Hypertrophic nerve changes, Gait ataxia, Action tremor, Distal sensor... OMIM:180800
Spinocerebellar Ataxia 38
Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Peripheral axonal neuropa... OMIM:615957
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Somatic sensory dysfunction, Peripheral demyelination, Axonal degeneration/regeneration, Peripher... OMIM:620378
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Steppage gait, Onion bulb formation, Distal sensory impairment OMIM:616039
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Paresthesia, Positive Romberg sign, Gait ataxia, Distal sensory impai... OMIM:601098
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Somatic sensory dysfunction, Progressive spastic paraplegia, Distal s... ORPHA:101010
Chronic Inflammatory Demyelinating Polyneuropathy
Falls, Spontaneous pain sensation, Somatic sensory dysfunction, Difficulty walking, Peripheral de... ORPHA:2932
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia ORPHA:211017
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Impaired vibratory sensation, Cerebellar atrophy, Seizure, Cerebral atrophy, Distal senso... OMIM:607250
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Difficulty walking, Axonal degeneration/regeneration, Distal sensory impairment, Steppage gait, S... OMIM:606483
Spastic Paraplegia 72A, Autosomal Dominant
Spastic paraplegia, Spasticity, Tip-toe gait, Impaired vibration sensation in the lower limbs, Ho... OMIM:615625
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Myoclo... ORPHA:363710
Diaminopentanuria
Neurodegeneration, Spasticity, Seizure, Ataxia OMIM:222350
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Cerebellar atrophy, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia OMIM:616187
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Impaired vibratory sensation, Impaired pain sensation, Peripheral demyelination, Distal sensory i... OMIM:615185
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Distal sensory impairment, Axonal degeneration, Decreased number of peripheral myelinated nerve f... OMIM:606482
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Cavitating leukodystrophy, Seizure, Ataxia OMIM:619061
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... OMIM:610245
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Impaired vibratory sensation, Vocal cord paresis, Impaired pain sensation, Peripheral demyelinati... ORPHA:101097
Spinocerebellar Ataxia Type 25
Diffuse cerebellar atrophy, Impaired pain sensation, Gait ataxia, Distal sensory impairment, Abno... ORPHA:101111
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Cerebe... OMIM:615268
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Basal lamina onion bulb formation, CNS hypomyelination, Distal sensor... OMIM:214400
Distal Myopathy, Welander Type
Rimmed vacuoles, Distal upper limb amyotrophy, Foot dorsiflexor weakness, Myopathy, Clumsiness, I... ORPHA:603
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Sensory axonal neuropathy, Myoclonus, Dysmetria, Tremor, Babinski sign, Atonic seizure, G... OMIM:612437
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Clusters of axonal regeneration, Distal sensory impairment, Decreased number of periphera... OMIM:607734
Atypical Rett Syndrome
Spasticity, Involuntary movements, Neonatal seizure, Impaired pain sensation, Abnormal pattern of... ORPHA:3095
Spinocerebellar Ataxia 45
Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:617769
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypoplasia, Babinsk... OMIM:615768
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Myoclonus, Gait ataxia, Tremor, Abnormali... OMIM:615362
Dystonia 22, Adult-Onset
Upper limb postural tremor, Retrocollis, Babinski sign, Gait disturbance, Torticollis, Focal dyst... OMIM:620456
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Hydrocephaly-Cerebellar Agenesis Syndrome
Cerebellar agenesis, Ataxia ORPHA:1397
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Seizure, Cerebral atrophy, Increased neuronal autofluorescent lipopigment, My... OMIM:600143
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Seizure, Cerebral atrophy, Rigidity, Loss of ambulation, Ataxia OMIM:609055
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Action tremor, Cerebellar hypoplasia, Clumsiness, Truncal ataxia, U... ORPHA:314978
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Steppage gait, Axonal degeneration/regeneration, Distal sensory impairment, Decreased number of p... OMIM:607677
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Cerebellar atrophy, Ataxia OMIM:619333
Spinocerebellar Ataxia 35
Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o... OMIM:613908
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Cerebellar atrophy, Seizure, Cerebral atrophy, Action tremor, Rigidity, Babins... OMIM:300423
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Spasticity, Broad-based gait, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, ... ORPHA:284332
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Seizure, Peripheral demyelination, Gait ataxia, Loss of ambulation, Babinski sign, CNS demyelinat... OMIM:249900
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Steppage gait, Distal sensory impairment, Decreased number of peripheral mye... OMIM:607731
Hypertrophic Neuropathy Of Dejerine-Sottas
Tongue fasciculations, Broad-based gait, Hypertrophic nerve changes, Peripheral demyelination, My... OMIM:145900
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Pontocerebella... ORPHA:423275
Spastic Paraplegia 55, Autosomal Recessive
Spastic paraplegia, Optic atrophy, Difficulty walking, Distal sensory impairment, Babinski sign, ... OMIM:615035
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Ataxia, Generalized myocl... OMIM:610951
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at... OMIM:616948
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr... ORPHA:276193
Stxbp1-Related Encephalopathy
Ataxia, Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Spastic tetr... ORPHA:599373
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morphology, Limb dysmetria... ORPHA:98762
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy, Myoclonic seizure, Cerebellar atrophy, Cerebral atrophy, Bilateral tonic-clonic se... OMIM:611726
Dystonia 23
Cerebellar atrophy, Head tremor, Myoclonus, Limb dystonia, Axial dystonia, Gait disturbance, Tort... OMIM:614860
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Cerebellar atrophy, Seizure, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski... OMIM:607317
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait ORPHA:401840
Charcot-Marie-Tooth Disease, Type 4K
Difficulty walking, Peripheral demyelination, Ataxia, Axonal loss, Dystonia OMIM:616684
Dystonia 31
Arm dystonia, Abnormal posturing, Generalized dystonia, Leg dystonia, Parkinsonism, Craniofacial ... OMIM:619565
Carnitine Deficiency, Myopathic
Reduced muscle carnitine level, Myopathy OMIM:212160
Spinocerebellar Ataxia 18
Sensory axonal neuropathy, Cerebellar atrophy, Tremor, Dysmetria, Progressive gait ataxia, Babins... OMIM:607458
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Dysdiadochokinesis, Cerebellar atrophy, Myoclonus, Dysmetria, Sp... OMIM:614487
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Difficulty walking, Peripheral demyelination, Positive Romberg sign,... ORPHA:206594
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Axonal degeneration/regeneration, Distal sensory impairment, Decreased number of peripheral myeli... OMIM:118210
Striatal Degeneration, Autosomal Dominant 1
Degeneration of the striatum, Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesi... OMIM:609161
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Myopathy, Weakness of facial musculature, Distal lower limb m... OMIM:617030
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Unsteady gait, Acute demyelinating polyneuropathy, Dysesthesia ORPHA:98916
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:617133
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Cerebellar hypoplasia, Babinski sign, Ataxia, Truncal ataxia OMIM:617584
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Tip-toe gait, Hand tremor, Difficulty walking, Incoordination, Dysmetria, Dis... OMIM:302800
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Babinski sign, Peripheral axonal neuropathy, Ataxia OMIM:611105
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Seizure, Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Seizure, Increased neuronal autofluorescent lipopigment, Abnormal cerebellum m... OMIM:162350
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Spastic paraplegia, Optic atrophy, Cerebellar atrophy, Seizure, Difficulty walking, Neurodegenera... OMIM:612319
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... OMIM:609115
Spinocerebellar Ataxia 31
Cerebellar atrophy, Limb ataxia, Gait ataxia, Ataxia OMIM:117210
Episodic Ataxia, Type 8
Ataxia, Slurred speech, Intention tremor, Episodic ataxia OMIM:616055
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Laryngeal dystonia, Gait ataxia, Ab... ORPHA:101110
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Progressive spastic paraplegia, Difficulty walking, Babinski sign, Low... ORPHA:401820
Charcot-Marie-Tooth Disease, Type 4H
Distal sensory impairment, Peripheral hypomyelination, Decreased number of peripheral myelinated ... OMIM:609311
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ata... ORPHA:95434
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Spasticity, Axonal degeneration/regeneration, Distal sensory impairment, Tremor, D... OMIM:609260
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Tip-toe gait, Tetraparesis, Decreased number of peripheral myelinated nerve fibers, Clumsiness, H... ORPHA:2386
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Hypertrophic nerve changes, Peripheral demyelination, Distal sensory impairment, Decreased number... OMIM:118200
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Dysmetria, Rigi... OMIM:618090
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination, Paraparesis, Impaired distal proprioception ORPHA:231445
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Chronic axonal neuropathy, Cerebral degeneration, Ataxia OMIM:260970
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
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Cerebellar atrophy, Seizure, Ataxia, Generalized myoclonic seizure OMIM:614706
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Dyskinesia, Limb And Orofacial, Infantile-Onset
Seizure, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Distal sensory impairment, Gait disturbance, Segmental peripheral demyelination/re... OMIM:311070
Giant Axonal Neuropathy 2, Autosomal Dominant
Peripheral axonal neuropathy, Steppage gait, Impaired distal tactile sensation, Onion bulb format... OMIM:610100
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria... OMIM:616291
Charcot-Marie-Tooth Disease, Type 4J
Distal sensory impairment, Peripheral hypomyelination, Gait disturbance, Axonal loss, Frequent fa... OMIM:611228
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Nescav Syndrome
Optic atrophy, Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Inability to walk, Cere... OMIM:614255
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista... ORPHA:101108
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Seizure, Myoclonus, Rigidity, Ataxia, Intention... OMIM:618876
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Demyelinating sensory neuropathy, Cerebellar atrophy, Gait ataxia, Dysmetria, Distal sensory impa... OMIM:618387
Bethlem Myopathy 1A
Ankle flexion contracture, Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contra... OMIM:158810
Charcot-Marie-Tooth Disease Type 4G
Impaired vibratory sensation, Impaired pain sensation, Difficulty walking, Peripheral demyelinati... ORPHA:99953
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Seizure, Cerebral atrophy, Abnormal upper motor neuron morphology, Peripheral demyeli... OMIM:221770
Charcot-Marie-Tooth Disease, Type 4C
Tongue fasciculations, Basal lamina onion bulb formation, Difficulty walking, Abnormal cranial ne... OMIM:601596
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Distal sensory impairment, Decreased number of peripheral myelinated ... OMIM:118220
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Pyruvate Dehydrogenase Deficiency
Spasticity, Seizure, Cerebral palsy, Tremor, Tachypnea, Abnormal pyramidal sign, Gait disturbance... ORPHA:765
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Distal sensory impairment, Decreased number of peripheral myelinated... OMIM:604484
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Bilateral tonic-clonic seizure, Ataxia, Torticollis, Dyst... OMIM:618425
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Seizure, Tetraparesis, Cerebral atrophy, Myoclonus, Tremor, Abnormal pyramidal sign, ... OMIM:615924
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady... OMIM:302500
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Camos Syndrome
Optic atrophy, Spasticity, Seizure, Aplasia/Hypoplasia of the cerebellum, Ataxia, Progressive ext... ORPHA:83472
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxi... OMIM:614322
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Seizure, Generalized dystonia, Inability to walk, Cerebellar vermis atrophy, ... OMIM:619389
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity OMIM:619491
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Spasticity, Myoclonic seizure, Cerebellar atrophy, Generalized non-motor (absence)... OMIM:617810
Adult Krabbe Disease
Spasticity, Broad-based gait, Acroparesthesia, Somatic sensory dysfunction, Abnormal medulla oblo... ORPHA:206448
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Arthrogryposis multiplex congenita, Congenital contracture, Myopathy, Skeletal muscle atrophy OMIM:208100
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Tremor, Ataxia OMIM:619099
Spinocerebellar Ataxia 12
Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiado... OMIM:604326
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Craniofacial dystonia, Torticollis, Dystonia, Progressive cerebellar ataxia OMIM:611694
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Oculogyric crisis, Focal impaired awareness seizure, Cerebellar atrophy, Seizure, ... ORPHA:330050
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:617831
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Trem... ORPHA:98763
Spinocerebellar Ataxia 11
Cerebellar atrophy, Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebel... OMIM:604432
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Steppage gait, Axonal degeneration/regeneration, Distal sensory impairment OMIM:607736
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Neurodegeneration With Brain Iron Accumulation 6
Spastic paraparesis, Tip-toe gait, Neurodegeneration, Motor axonal neuropathy, Rigidity, Dystonia... OMIM:615643
Myoclonic-Atonic Epilepsy
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Tremor, Delayed CNS myelinati... OMIM:616421
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy, Ataxia ORPHA:2579
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Spasticity, Upper limb muscle weakness, Fasciculations, ... ORPHA:309169
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Seizure, Ina... ORPHA:391411
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Cerebellar atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Bab... OMIM:611302
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Falls, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait disturbance, Bilateral ... OMIM:616230
Ceroid Lipofuscinosis, Neuronal, 5
Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Increased neuronal autofluorescent lipopi... OMIM:256731
Epilepsy, Progressive Myoclonic, 6
Ataxia, Generalized non-motor (absence) seizure, Difficulty walking, Myoclonus, Tremor, Loss of a... OMIM:614018
Tremor, Hereditary Essential, 6
Cerebellar atrophy, Leukodystrophy, Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia OMIM:276880
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Tongue fasciculations, Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower... OMIM:619216
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination, Gait disturbance, Distal sensory impairment ORPHA:99944
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Cerebral atrophy, Chorea, Peripheral demyelination, Peripheral hypomyelination, Axonal degenerati... OMIM:604168
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Cerebral cortical atrophy, Falls, Resting tremo... OMIM:617225
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Seizure, Gait ataxia, Ataxia, Unsteady gait OMIM:615705
Nemaline Myopathy 6
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Facial palsy OMIM:609273
Dentatorubral-Pallidoluysian Atrophy
Chorea, Myoclonus, Parkinsonism, Atrophy of the dentate nucleus, Ataxia, Dystonia, Choreoathetosis OMIM:125370
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor OMIM:608029
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Seizure, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness,... ORPHA:79262
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Cerebral atrophy, Increased neuronal autofluorescent lipopigment, Myoclonus, Abnormality of extra... OMIM:204300
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration, Seizure OMIM:613068
Leukodystrophy, Hypomyelinating, 11
Spasticity, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Myoclonus, Tremor, Ataxia OMIM:616494
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Myoclonus, Ragged-red muscle fibers, Myopathy, Ataxia OMIM:545000
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Ataxia ORPHA:22
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Somatic sensory dysfunction, Progressive extrapyramidal mu... ORPHA:454887
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Tongue fasciculations, Proximal muscle weakness in lower limbs, Proximal muscle ... ORPHA:276435
Neuropathy, Hereditary, With Liability To Pressure Palsies
Hypoesthesia, Segmental peripheral demyelination/remyelination, Hand paresthesia, Vocal cord para... OMIM:162500
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Limb muscle weakness, Ragged-red muscle fibers, Babinski si... OMIM:500002
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Peripheral demyelination, Distal sensory impairment, Steppage gait, Decreased number of large per... OMIM:608340
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Epilepsia partialis continua, Involuntary movements, Optic atrophy, Sensory axonal neuropathy, Ce... OMIM:271245
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... OMIM:605820
Myopathy, Distal, 4
Skeletal muscle atrophy, Thenar muscle weakness, Distal lower limb amyotrophy, Distal upper limb ... OMIM:614065
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb ataxia, Gai... OMIM:213200
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Seizure, Impaired vibration sensation in the lower limbs, Tremor, Degeneratio... OMIM:600363
Neuropathy, Hereditary Motor And Sensory, Russe Type
Difficulty walking, Distal sensory impairment, Peripheral hypomyelination, Paralysis, Decreased n... OMIM:605285
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Leukodystrophy, Cerebral atrophy, Tremor, Dysmetria, Loss of ambulation, Lowe... OMIM:617916
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Generalized Epilepsy With Febrile Seizures-Plus
Ataxia, Generalized myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (a... ORPHA:36387
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Intention tremor ORPHA:308
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis, Impaired pain sensation, Axonal degeneration/regeneration, Decreased number o... OMIM:607706
Spastic Ataxia, Charlevoix-Saguenay Type
Loss of Purkinje cells in the cerebellar vermis, Spasticity, Falls, Progressive truncal ataxia, C... OMIM:270550
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata... ORPHA:251282
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Dysmetria, Unsteady gait, Intent... OMIM:615386
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Cerebral cortical atrophy, Falls, Resting tremor, R... ORPHA:306692
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Axonal degeneration/regeneration, Distal sensory impairment, Decreased number of peripheral myeli... OMIM:605588
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Difficulty walking, Axonal regeneration, Onion bulb formation, Distal sensory impairment OMIM:608323
Neuromyelitis Optica Spectrum Disorder
Paraplegia, Peripheral demyelination, Somatic sensory dysfunction, Neuronal loss in central nervo... ORPHA:71211
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia ORPHA:2589
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of ... OMIM:208920
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ... ORPHA:284324
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys... OMIM:616127
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Tremor, Rigidity, Chiari type I malformation, Dystonia, Bilateral toni... OMIM:617836
Charcot-Marie-Tooth Disease, Type 4B2
Difficulty walking, Distal sensory impairment, Decreased number of peripheral myelinated nerve fi... OMIM:604563
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Neurodegeneration, Paraparesis, Gait apraxia... OMIM:615157
Citrullinemia Type I
Spasticity, Seizure, Ankle clonus, Tachypnea, Torticollis, Ataxia, Slurred speech ORPHA:247525
Leukoencephalopathy, Progressive, With Ovarian Failure
Spasticity, Cerebellar atrophy, Hand tremor, Neurodegeneration, Babinski sign, Apraxia, Ataxia, D... OMIM:615889
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Gait ataxia, Tremor, Absence seizure with eyelid myoclonia, Bilateral tonic-cl... OMIM:618587
Autosomal Spastic Paraplegia Type 72
Spastic gait, Postural tremor, Impaired vibration sensation at ankles, Rigidity ORPHA:401849
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Seizure, Postural tremor, Akinesia, Freezing of gait, Rigidity, Dystonia, Clumsin... OMIM:619911
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Hypomimic face, Brady... OMIM:300911
Spastic Paraplegia 11, Autosomal Recessive
Spastic paraplegia, Cerebral cortical atrophy, Tip-toe gait, Impaired vibration sensation in the ... OMIM:604360
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Cerebellar atrophy, Dysmetria, Ankle clonus, Babinski sign, Peripheral axonal... OMIM:610357
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Abnormal pyr... OMIM:617145
Dystonia 22, Juvenile-Onset
Cerebellar atrophy, Generalized dystonia, Laryngeal dystonia, Intention tremor, Dysmetria, Lower ... OMIM:620453
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Cerebellar atrophy, Aplasia of the inferior half of the cerebellar vermis, Gait... OMIM:610185
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Distal sensory impairment, Tremor, Fasciculations OMIM:615048
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Cerebral atrophy, Seizure, Myoclonus, Increased extraneuronal autofluorescent lipopigment... OMIM:204500
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Seizure, Inability to walk, Dilated fo... OMIM:614831
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Cerebellar atrophy, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Parkinso... ORPHA:521406
Autosomal Recessive Spastic Paraplegia Type 35
Spastic paraplegia, Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Genera... ORPHA:171629
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Bilateral tonic-clonic se... OMIM:619028
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, Difficulty walking, Inability t... ORPHA:2590
Basal Ganglia Calcification, Idiopathic, 1
Cerebellar dentate nucleus calcification, Seizure, Chorea, Limb dysmetria, Tremor, Rigidity, Dyst... OMIM:213600
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Spasticity, Cerebral cortical atrophy, Seizure, Tremor, Rigidity, Cerebellar hypop... ORPHA:33445
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Myoclonic Epilepsy, Familial Infantile
Generalized myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 ye... OMIM:605021
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Spastic paraplegia, Spasticity, Seizure, Respiratory distress, Inability to walk, Focal tonic sei... OMIM:617977
Dravet Syndrome
Ataxia, Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seiz... OMIM:607208
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Seizure, Gait ataxia, Limb dystonia, Parkinsonism, Craniofaci... ORPHA:71517
X-Linked Progressive Cerebellar Ataxia
Cerebellar vermis atrophy, Limb ataxia, Intention tremor, Dysmetria, Progressive gait ataxia, Bab... ORPHA:1175
Spinocerebellar Ataxia 48
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Bilatera... OMIM:618093
Folinic Acid-Responsive Seizures
Broad-based gait, Generalized myoclonic seizure, Atonic seizure, Seizure, Respiratory distress, D... ORPHA:79097
Krabbe Disease
Optic atrophy, Seizure, Neurodegeneration, Peripheral demyelination, Diffuse cerebral atrophy, CN... OMIM:245200
Neuropathy, Congenital Hypomyelinating, 2
Inability to walk, Facial diplegia, Decreased number of peripheral myelinated nerve fibers, Onion... OMIM:618184
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration, Distal sensor... OMIM:607791
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Positive Romberg sign, Dysmetria, Loss... OMIM:618088
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Broad-based gait, Cerebellar atrophy, Febrile seizure (within the age range of 3 months to 6 year... ORPHA:512260
Intellectual Developmental Disorder, Autosomal Recessive 77
Head tremor, Unsteady gait OMIM:619988
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Optic atrophy, Cerebellar atrophy, Cerebral atr... OMIM:615491
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Generalized... ORPHA:79263
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Abnormal pyramidal sign, Leukodystrophy DECIPHER:59
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Spinocerebellar Ataxia 29
Truncal titubation, Diffuse cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, C... OMIM:117360
Ataxia, Sensory, 1, Autosomal Dominant
Sensory ataxia, Abnormal cerebellum morphology, Positive Romberg sign, Gait ataxia, Babinski sign... OMIM:608984
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Steppage gait, Somatic sensory dysf... OMIM:615376
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Spasticity, Cerebral cortical atrophy, Seizure, Tremor, Delayed CNS myelination, A... OMIM:300983
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal a... OMIM:613728
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Spastic paraplegia, Demyelinating sensory neuropathy, Onion bulb ... OMIM:182815
Dystonia 16
Bradykinesia, Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis,... ORPHA:210571
Spinocerebellar Ataxia Type 27
Sensory axonal neuropathy, Cerebellar atrophy, Hand tremor, Difficulty walking, Akinesia, Limb at... ORPHA:98764
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Impaired pain sensation, Distal sensory impairment, Steppage gait, Gait disturbance, Facial palsy... OMIM:607684
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy OMIM:212130
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Diffuse cerebral atrophy, Babinski sign, Dystonia, ... ORPHA:314632
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Somatic sensory dysfunction, Fasciculations, Axonal degeneration/regeneration, Decreased number o... OMIM:600882
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Infantile spasms, Tremor, Ataxia, Defective DNA repair after ultraviolet radiation da... OMIM:278780
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Gait ataxia, Dysmetria, Dystonia, Clumsiness, Babinski sign, Oculom... ORPHA:453521
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Generalized myoclonic seizure, Seizure, Ataxia OMIM:208700
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Progressive cerebellar ataxia, Spasticity, Cerebral atrophy, Impaired vibration sensation in the ... ORPHA:352641
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Difficulty walking, Distal sensory impairment, Peripheral axonal neuropathy, Decre... OMIM:617087
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Fiber type grouping, Distal amyotrophy, Tremor OMIM:614369
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Dyspnea, Dystonia, ... ORPHA:98810
Cerebellar Ataxia, Cayman Type
Broad-based gait, Cerebellar atrophy, Gait ataxia, Cerebellar hypoplasia, Dystonia, Ataxia, Trunc... OMIM:601238
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea, Edema OMIM:267450
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Seizure, Generalized non-motor (absence) seizure, Chorea, Paresthesia, Low... ORPHA:98811
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Merrf
Ragged-red muscle fibers, Myopathy, Ataxia ORPHA:551
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... OMIM:605355
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Scapulohumeral muscular dystrophy, Myopathy OMIM:160570
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Hand tremor, Gait ataxia, Bilate... OMIM:617862
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Somatic sensory dysfunction, Progressive extrapyramidal mu... ORPHA:240103
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor OMIM:611092
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia, Peripheral demyelination, CNS demyelination OMIM:250850
Metachromatic Leukodystrophy
Optic atrophy, Seizure, Chorea, Peripheral demyelination, Babinski sign, Gait disturbance, Tetrap... OMIM:250100
Spinocerebellar Ataxia 25
Cerebellar atrophy, Impaired pain sensation, Decreased number of peripheral myelinated nerve fibe... OMIM:608703
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Difficulty walking, Impaired vibration sensation in the lower limbs, Loss of ambulation, Peripher... ORPHA:137898
Joubert Syndrome 7
Episodic tachypnea, Tachypnea, Oculomotor apraxia, Central apnea, Ataxia OMIM:611560
Charcot-Marie-Tooth Disease, Type 4B3
Brain atrophy, Distal sensory impairment, Loss of ambulation, Gait disturbance, Onion bulb format... OMIM:615284
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Spasticity, Cerebellar atrophy, Seizure, Leukodystrophy, Tremor, Rigidity, Cerebra... OMIM:612438
Charcot-Marie-Tooth Disease, Type 4D
Distal sensory impairment, Gait disturbance, Impaired distal tactile sensation, Impaired distal p... OMIM:601455
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait ORPHA:284271
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Spasticity, Seizure, Respiratory distress, Myoclonus, Abnormality of extrapyramidal motor functio... OMIM:614299
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston... OMIM:617284
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Focal myoclonic seizure, Seizure, Progressive spastic paraplegia, Difficulty walking,... ORPHA:464282
Developmental And Epileptic Encephalopathy 37
Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Myoclonus, Cogwheel rigidity, Focal hem... OMIM:616981
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Spasticity, Leukodystrophy, Pseudobulbar paralysis, Abnormal cerebellum morphology, Babinski sign... OMIM:169500
Spinal Muscular Atrophy, Type Iii
Tongue fasciculations, Shoulder girdle muscle atrophy, Distal amyotrophy, Hand tremor, Lower limb... OMIM:253400
Spinocerebellar Ataxia Type 17
Blepharospasm, Involuntary movements, Spasticity, Cerebellar atrophy, Chorea, Rigidity, Dystonia,... ORPHA:98759
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development
Spastic paraplegia, Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Ankle cl... OMIM:607565
Spinocerebellar Ataxia 42
Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Tremor, Babinski sign, Spast... OMIM:616795
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Dista... OMIM:608673
Developmental And Epileptic Encephalopathy 97
Inability to walk, Epileptic spasm, Tremor, Seizure OMIM:619561
Spinocerebellar Ataxia 49
Sensory axonal neuropathy, Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor fun... OMIM:619806
Spinocerebellar Ataxia 17
Broad-based gait, Cerebellar atrophy, Seizure, Chorea, Limb ataxia, Positive Romberg sign, Gait a... OMIM:607136
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:613608
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Broad-based gait, Impaired vibration sensation in the lower limbs, Peripheral demy... OMIM:609033
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Behr Syndrome
Optic atrophy, Sensory axonal neuropathy, Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetri... OMIM:210000
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Respiratory distress, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response to ... ORPHA:240085
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, CNS hypomyelination, Seizure, Leukodystrophy, Abnormal cerebellum morphology,... OMIM:610532
Myopathy And Diabetes Mellitus
Impaired vibratory sensation, Tip-toe gait, Respiratory distress, Inability to walk, Babinski sig... ORPHA:2596
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Broad-based gait, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Seizure, Gait ataxia... OMIM:224050
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Tip-toe gait, Fasciculations, Axonal degeneration/regeneration, Distal sensory impairment, Axonal... OMIM:614436
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Trun... OMIM:607346
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Spinocerebellar Ataxia 46
Sensory axonal neuropathy, Cerebellar atrophy, Limb ataxia, Gait ataxia, Positive Romberg sign, D... OMIM:617770
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Cerebellar atrophy, Seizure, Cerebral atrophy, Neurodegeneration, Akinesia, ... OMIM:300894
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Poor fine motor coordination, Impaired pain sensation, Inability to walk, Dec... ORPHA:99948
Developmental And Epileptic Encephalopathy 32
Myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclo... OMIM:616366
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Seizure, Respiratory distress, Dystonia, Choreoathetosis, Dehydration ORPHA:79312
Klhl9-Related Early-Onset Distal Myopathy
Ankle flexion contracture, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles,... ORPHA:399081
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Action tre... OMIM:617665
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Spasticity, Cerebral cortical atrophy, CNS hypomyelination, Cerebellar atrophy, Se... OMIM:607694
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Seizure, Ataxia ORPHA:79242
Leber Hereditary Optic Neuropathy
Postural tremor, Myopathy, Ataxia ORPHA:104
Myopathy, Distal, With Anterior Tibial Onset
Myopathy OMIM:606768
Juvenile Neuronal Ceroid Lipofuscinosis
Poor motor coordination, Seizure, Episodic tachypnea, Apnea, Loss of ambulation, Clumsiness, Park... ORPHA:79264
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Seizure, Gait imbalance, Myoclonus, Bilateral tonic-clonic seizure, Ataxia, U... OMIM:301020
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Spastic dysarthria, Progressive spastic paraplegia, Hand tremor, Lower... ORPHA:401830
Spinocerebellar Ataxia 50
Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Head tremor, Myoclonus, Action tremor, Pos... OMIM:620158
Developmental And Epileptic Encephalopathy 42
Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, Focal tonic seizure, Ata... OMIM:617106
Charcot-Marie-Tooth Disease Type 2B1
Sensory axonal neuropathy, Inability to walk, Decreased number of large peripheral myelinated ner... ORPHA:98856
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Seizure, Akinesia, Myoclonus, Distal sensory impairment, Rigidity... OMIM:606693
Spinocerebellar Ataxia Type 2
Cerebral cortical atrophy, Spinal cord posterior columns myelin loss, Fasciculations, Chorea, Pos... ORPHA:98756
Dystonia 12
Bradykinesia, Tremor, Dystonia, Parkinsonism, Torticollis, Unsteady gait OMIM:128235
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... OMIM:615424
Acetyl-Coa Carboxylase-Alpha Deficiency
Myopathy OMIM:613933
Developmental And Epileptic Encephalopathy 92
Spasticity, Seizure, Difficulty walking, Inability to walk, Myoclonus, Lethargy, Ataxia, Dystonia OMIM:617829
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Inability to walk, Extrapyramidal muscular rigidity, Action tremor, Dysmetria... ORPHA:93952
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Neurodegeneration, Chorea, Tremor, Rigidity, Dysto... OMIM:606159
Spinocerebellar Ataxia 27B, Late-Onset
Postural tremor, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:620174
Spinocerebellar Ataxia Type 28
Spasticity, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, Rigidity, Dystonia, Babinski si... ORPHA:101109
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Impaired distal tactile sensation, Impaired distal vibration sensation, Decreased number of perip... OMIM:607080
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Somatic sensory dysfunction, Limb myoclonus, Postural tremor, Limb ataxia, Ga... OMIM:619862
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Cerebral atrophy, Postural tremor, Gait atax... OMIM:600116
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Optic atrophy, Spasticity, Cerebellar atrophy, Seizure, Difficulty walking, Gait ataxia, Dysmetri... ORPHA:529665
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pain insensitivity, Ataxia, Global brain atrophy, Seizure, Cerebellar vermis atrophy, Impaired vi... ORPHA:94124
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Spastic tetraplegia, Cerebral atrophy, Epileptic spasm, Tremor, Generalized t... OMIM:612164
Urocanic Aciduria
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia ORPHA:210128
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Spasticity, Difficulty walking, Impaired tactile sensation, Abnormal pyramidal sign, Demyelinatin... ORPHA:98
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Spasticity, Focal dystonia, Chorea, Limb dystonia, Tremor, Rigidity, Clumsiness, P... ORPHA:216873
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,... OMIM:167320
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Seizure, Inability to walk, Cerebellar vermis atrophy, Chorea, Gait ataxia, Dysmetria, Ataxia OMIM:618501
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Gait disturbance, Choreoathetosis, Ataxia ORPHA:67047
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Somatic sensory dysfunction, Difficulty walking, Inability to walk, Tremor, ... ORPHA:101077
Leukodystrophy, Hypomyelinating, 2
Optic atrophy, Spastic paraparesis, Sensory axonal neuropathy, Seizure, Leukodystrophy, Cerebral ... OMIM:608804
Adult-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Upper limb muscle weakness, Lowe... ORPHA:171442
Abetalipoproteinemia
Peripheral demyelination, CNS demyelination, Ataxia OMIM:200100
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Seizure, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive ce... ORPHA:139485
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Sensory axonal neuropathy, Hypoplasia of the pons, Motor axonal neuropathy, Decreased number of p... OMIM:620542
Roussy-Lévy Syndrome
Impaired vibratory sensation, Impaired pain sensation, Somatic sensory dysfunction, Difficulty wa... ORPHA:3115
Lopes-Maciel-Rodan Syndrome
Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Cerebellar vermis atrophy, Tremor, Ank... OMIM:617435
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Cerebellar atrophy, Seizure, Myoclonus, Tremor, Generalized tonic s... OMIM:612016
Spinocerebellar Ataxia 7
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... OMIM:164500
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Limb ataxia, Babinski sign, Progressive gait ataxia, Truncal ataxia, Progress... ORPHA:101112
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Spastic paraplegia, Postural tremor, Babinski sign, Gait disturbanc... ORPHA:100988
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Seizure, Cerebral atrophy, Inability to walk, Myoclonus, Gait ataxia, ... OMIM:618877
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Impaired pain sensation, Cerebellar vermis atrophy, Paresthesia, Limb ataxia, Gait at... OMIM:616719
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Impaired pain sensation, Tremor, Ataxia ORPHA:101075
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Spasticity, Loss of ambulation, Babinski sign, Tachypnea, Gait disturbance, Ataxia, Spastic tetra... OMIM:615838
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Shuffling gait, Pill-rolling tremor, Rigidity, Loss of ambulation, Dystonia, Parkinso... OMIM:615528
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... OMIM:608358
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cerebral cortical atrophy, Chorea, Paresthesia, Dysmetria, Peripheral hypomyelination, Abnormal p... ORPHA:48431
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Impaired vibratory sensation, Optic atrophy, Gait ataxia, Intention tremor, Peripheral axonal neu... OMIM:620221
Developmental And Epileptic Encephalopathy 67
Cerebellar atrophy, Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seiz... OMIM:618141
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Incoordination, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Babinski s... OMIM:616204
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus, Tremor... OMIM:612736
Huntington Disease-Like 1
Involuntary movements, Abnormal posturing, Seizure, Incoordination, Chorea, Gait ataxia, Simultan... ORPHA:157941
Developmental And Epileptic Encephalopathy 109
Spasticity, Myoclonic seizure, Typical absence seizure, Crouch gait, Gait ataxia, Myoclonus, Foca... OMIM:620145
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Blepharospasm, Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, L... ORPHA:240094
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Difficulty walking, Peripheral axon... OMIM:619425
Monomelic Amyotrophy
Degeneration of anterior horn cells, Distal upper limb amyotrophy, Tremor, Fasciculations ORPHA:65684
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Weakn... OMIM:160565
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Dysdiadochokinesis, Cerebellar atrophy, Myoclonus, Dysmetria, Ce... ORPHA:313772
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure OMIM:616341
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Oculomotor apraxi... OMIM:617633
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Seizure, Progressive extrapyramidal muscular rigidity, Abnormal posturing, Hemipl... ORPHA:225147
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Spastic paraparesis, Cerebellar atrophy, Seizure, Cerebral atrophy, Tremor, Rigidi... ORPHA:329284
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Spasticity, Global brain atrophy, Seizure, Episodic ataxia, Difficulty walking, Gait ataxia, Inte... OMIM:614458
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Gait disturbance, Dysdiadochokinesis, Rigidity ORPHA:228169
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Cerebellar dentate nucleus calcification, Chorea, Dysmetria, Dystonia, Parkinsonism, Abnormal pyr... OMIM:618317
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Generalized-onset seizure, Difficulty walking, Myoclonus, Tremor, Facial p... OMIM:159950
Mitochondrial Complex I Deficiency, Nuclear Type 21
Spasticity, Ragged-red muscle fibers, Myopathy, Babinski sign, Ataxia OMIM:618242
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation OMIM:619405
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... OMIM:616924
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Cerebellar hypoplasia, Limb dystonia, Tremor, Ataxia OMIM:620270
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
CNS hypomyelination, Cerebellar atrophy, Seizure, Leukodystrophy, Difficulty walking, Cerebral at... ORPHA:527497
Juvenile Huntington Disease
Broad-based gait, Cerebellar atrophy, Seizure, Cerebellar vermis atrophy, Chorea, Gait ataxia, My... ORPHA:248111
Primary Dystonia, Dyt4 Type
Upper limb postural tremor, Blepharospasm, Involuntary movements, Generalized dystonia, Laryngeal... ORPHA:98805
Spinocerebellar Ataxia Type 21
Cerebellar vermis atrophy, Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor fun... ORPHA:98773
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Inability to walk, Axonal degeneration, Decreased number of peripheral myelinat... OMIM:615490
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia OMIM:614229
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Spinocerebellar Ataxia 5
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Incoordination, Limb ataxia, ... OMIM:600224
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Myoclonus, Dysmetria, Bilateral tonic-clonic seizure, Ataxia OMIM:619191
Spinocerebellar Ataxia 44
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis OMIM:617691
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Broad-based gait, Seizure, Febrile seizure (within the age range of 3 months ... ORPHA:477673
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Impaired pain sensation, Tremor, Ataxia ORPHA:101078
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs ORPHA:1878
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Oculom... ORPHA:208513
Progressive Myoclonic Epilepsy Type 3
Optic atrophy, Cerebellar atrophy, Focal myoclonic seizure, Limb myoclonus, Febrile seizure (with... ORPHA:263516
Scapuloperoneal Myopathy, X-Linked Dominant
Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus... OMIM:300695
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Truncal a... ORPHA:352403
Spinal Muscular Atrophy, Type Ii
Tongue fasciculations, Skeletal muscle atrophy, Hand tremor, Spinal muscular atrophy, Degeneratio... OMIM:253550
Hemiparkinsonism-Hemiatrophy Syndrome
Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Cerebral cortical hemiatrophy, B... ORPHA:306669
Congenital Disorder Of Glycosylation, Type Iibb
Cerebellar vermis hypoplasia, Spasticity, Myoclonic seizure, Cerebellar atrophy, Tetraparesis, An... OMIM:620546
Hsd10 Disease
Optic atrophy, Spastic paraparesis, Frontotemporal cerebral atrophy, Seizure, Myoclonus, Tremor, ... ORPHA:391417
Glut1 Deficiency Syndrome 2
Cerebral atrophy, Seizure, Tremor, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi... OMIM:609270
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Focal sensory seizure with visual features, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Fo... OMIM:615400
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Spasticity, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Limb ataxia, Limb dystonia, ... OMIM:617560
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Congenital Disorder Of Glycosylation, Type Iid
Myopathy, Decreased muscle mass OMIM:607091
Vitamin B12-Unresponsive Methylmalonic Acidemia
Seizure, Tetraparesis, Paraparesis, Ataxia, Choreoathetosis, Dehydration ORPHA:27
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Bilateral tonic-clonic... ORPHA:53583
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy, Ataxia OMIM:551500
Congenital Myopathy 16
Tongue tremor, Postural tremor, Scapular winging, Flexion contracture, EMG: myopathic abnormalities OMIM:618524
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Optic nerve hypoplasia, Demyelinating sensory neuropathy, Somatic s... ORPHA:101085
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... OMIM:614321
Methionine Malabsorption Syndrome
Tachypnea, Seizure OMIM:250900
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Spasticity, Cerebellar atrophy, Generalized dystonia, Neurodegeneration, Tremor, A... OMIM:614298
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Tremor, Myoclonus, Seizure OMIM:615127
Joubert Syndrome 9
Episodic tachypnea, Oculomotor apraxia, Apnea, Seizure OMIM:612285
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourt... ORPHA:1170
Spinocerebellar Ataxia 4
Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Babinski sign, Progressive cerebel... OMIM:600223
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Myoclonus, Cogwheel rigidity, Dystonia, Parkinsonism, Delayed CNS myelina... OMIM:619725
Dravet Syndrome
Incoordination, Action tremor, Focal hemiclonic seizure, Parkinsonism, Photosensitive tonic-cloni... ORPHA:33069
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Vocal cord paralysis, Distal sensory impairment, Peripheral hypomyelination OMIM:616287
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Flexion contracture, Scapular winging, Myopathy OMIM:616471
Congenital Myopathy With Myasthenic-Like Onset
Minicore myopathy, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Scapu... ORPHA:424107
Joubert Syndrome
Seizure, Abnormal pattern of respiration, Episodic tachypnea, Apnea, Tremor, Oculomotor apraxia, ... ORPHA:475
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Fasciculations, Facial diplegia, Foot dorsiflexor weakness... ORPHA:329478
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Hydrops fetalis ORPHA:45452
Nemaline Myopathy 7
Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Limb muscle weakness, Knee f... OMIM:610687
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Parkinsonism-Dystonia 3, Childhood-Onset
Global brain atrophy, Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, ... OMIM:619738
Slowed Nerve Conduction Velocity, Autosomal Dominant
Peripheral demyelination, Onion bulb formation OMIM:608236
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Abnormal muscle fiber morphology ORPHA:270
Spinocerebellar Ataxia Type 10
Focal impaired awareness seizure, Cerebellar atrophy, Generalized-onset seizure, Gait imbalance, ... ORPHA:98761
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Abnormal posturing, Generalized dystonia, Multiple joint contractures, Tremor, Bab... OMIM:128100
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d... OMIM:616710
Pelizaeus-Merzbacher Disease
Broad-based gait, Progressive spastic quadriplegia, Abnormal pyramidal sign, Ataxia, Choreoatheto... OMIM:312080
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Broad-based gait, Respiratory distress, Difficulty walking, Tachypnea, Ataxia, Dystonia, Choreoat... OMIM:610978
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Seizure, Cogwheel rigidity, Ankle clonus, Diffus... ORPHA:363654
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Spinal Muscular Atrophy, X-Linked 2
Tongue fasciculations, Multiple joint contractures, Myopathy, Spinal muscular atrophy, Flexion co... OMIM:301830
Spinocerebellar Ataxia 34
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Fasciculations, Limb ataxia, Gait atax... OMIM:133190
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Hand tremor, Cerebral atrop... OMIM:614409
3-Methylglutaconic Aciduria, Type Viib
Spasticity, Seizure, Respiratory distress, Myoclonus, Tremor, Hyperkinetic movements, Opisthotonu... OMIM:616271
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation i... ORPHA:320406
Propionic Acidemia
Seizure, Apnea, Tachypnea, Limb hypertonia, Dystonia, Dehydration OMIM:606054
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Tongue fasciculations, Increased variability in muscl... OMIM:271150
Spinocerebellar Ataxia 26
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia OMIM:609306
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Focal impaired awareness seizure, Seizure, Chorea, Abnormality of extrapyramidal motor fu... ORPHA:382
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers, Cerebral atrophy, Ataxia OMIM:614116
4H Leukodystrophy
Optic atrophy, Cerebellar atrophy, Seizure, Dysmetria, Tremor, Abnormality of extrapyramidal moto... ORPHA:289494
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Broad-based gait, Poor fine motor coordination, Impaired pain sensation, Tip-toe gait, Frequent f... ORPHA:435387
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy ORPHA:366
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tongue fasciculations, Cerebellar atrophy, Generalized non-motor (absence) seizure, Seizure, Cere... OMIM:618170
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Muscular dystrophy, Shoulder girdle muscle weakness, Quadriceps muscle atrophy, Calf muscle hyper... OMIM:611307
Spinocerebellar Ataxia 21
Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Akinesia, Abnormality of extrapyram... OMIM:607454
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... OMIM:616313
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Neurodegeneration, Gait ataxia, Cerebellar atrophy ORPHA:438134
Episodic Ataxia, Type 5
Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Episodic ... OMIM:613855
Amish Nemaline Myopathy
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Tremor, Proximal... ORPHA:98902
Spinocerebellar Ataxia With Epilepsy
Myoclonus, Gait ataxia, Dysmetria, Tremor, Myopathy, Dystonia, Dysdiadochokinesis, Progressive ce... ORPHA:254881
Autosomal Recessive Spastic Paraplegia Type 46
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Cerebral atrophy, Difficulty wal... ORPHA:320391
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Developmental Delay With Or Without Epilepsy
Ataxia, Spasticity, Myoclonic seizure, Cerebellar atrophy, Generalized non-motor (absence) seizur... OMIM:620540
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Cerebral atrophy, Tremor, Ataxia OMIM:618637
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Neurodegeneration, Chor... OMIM:610217
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, ... OMIM:600334
Hyperphenylalaninemia, Bh4-Deficient, C
Seizure, Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis OMIM:261630
Beta-Ketothiolase Deficiency
Spasticity, Edema, Seizure, Dehydration, Tachypnea, Ataxia, Extrapyramidal dyskinesia ORPHA:134
Zebra Body Myopathy
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, EMG: myo... ORPHA:97240
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Fasciculations, Postural tremor, Li... OMIM:183090
Distal Nebulin Myopathy
Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Foot dorsiflexor weak... ORPHA:399103
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Seizure, Ataxia OMIM:618951
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Cerebellar dentate nucleus calcification, Seizure, Tremor, Abnormal pyramidal sign, G... ORPHA:542310
X-Linked Immunoneurologic Disorder
Myopathy, Hypertonia, Hemiplegia/hemiparesis ORPHA:2571
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Spasticity, Involuntary movements, Seizure, Cerebral atrophy, Difficulty walking, ... ORPHA:442835
Tetanus
Respiratory distress, Tremor, Rigidity, Opisthotonus, Tachypnea, Hypertonia, Spasticity of pharyn... ORPHA:3299
Joubert Syndrome 3
Episodic tachypnea, Oculomotor apraxia, Central apnea, Ataxia OMIM:608629
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... ORPHA:34516
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia... OMIM:618049
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Axonal loss, Steppage gait, Onion bulb formation, Distal sensory impairment OMIM:614455
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Tremor, Waddling gait OMIM:616269
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Febrile seizure (within the age range of 3 months to 6 years), Cerebellar atrophy, Progressive ce... OMIM:618412
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebellar atrophy, Seizure, Cerebral atrophy, Neurodegeneration, Abnormal pyramid... OMIM:256600
Mohr-Tranebjaerg Syndrome
Spasticity, Abnormal posturing, Tremor, Intrinsic hand muscle atrophy, Dystonia OMIM:304700
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Increased variability in muscle fiber diameter, Postural tremor, Tremor, Weaknes... OMIM:619790
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial dyst... ORPHA:420492
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Somatic sensory dysfunction, Head tremor, Gait ataxia, Dysmetria, Peripheral ... ORPHA:98771
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Developmental And Epileptic Encephalopathy 24
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... OMIM:615871
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:618940
Joubert Syndrome 30
Tachypnea, Apnea, Seizure OMIM:617622
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonic seizure, Brain atrophy, Gait ataxia, Myoclonus, Tremor, Impaired tactile sensation, Bil... OMIM:619092
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, Clumsiness, Weakness of the intrinsic hand muscle... ORPHA:399086
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Tongue fasciculations, Minicore myopathy, Z-band stre... OMIM:618823
East Syndrome
Cerebellar atrophy, Seizure, Generalized-onset seizure, Difficulty walking, Inability to walk, Ac... ORPHA:199343
Combined Malonic And Methylmalonic Acidemia
Seizure, Generalized clonic seizure, Dystonia, Focal impaired awareness seizure, Dehydration ORPHA:289504
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Cerebellar atrophy, Difficulty walking, Limb ataxia, Cogwheel rigidity, Ataxia,... ORPHA:98772
Caribbean Parkinsonism
Cerebral cortical atrophy, Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ataxia,... ORPHA:97355
Tremor-Ataxia-Central Hypomyelination Syndrome
Ataxia, Optic atrophy, Spasticity, Cerebral cortical atrophy, CNS hypomyelination, Leukodystrophy... ORPHA:447896
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Tongue fasciculations, Involuntary movements ORPHA:238329
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Seizure, Limb ataxia, Gait ataxia, Myoc... ORPHA:101
Familial Dyskinesia And Facial Myokymia
Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia ORPHA:324588
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Myopathy, Tremor, Fat... ORPHA:397744
N-Acetylglutamate Synthase Deficiency
Seizure, Respiratory distress, Tachypnea, Hypertonia, Clonic seizure OMIM:237310
Epilepsy, Familial Adult Myoclonic, 1
Tremor, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:601068
Inherited Creutzfeldt-Jakob Disease
Global brain atrophy, Central nervous system degeneration, Seizure, Progressive extrapyramidal mu... ORPHA:282166
Multiple Sulfatase Deficiency
Spasticity, Cerebellar atrophy, Cerebral atrophy, Peripheral demyelination, CNS demyelination, At... OMIM:272200
Charcot-Marie-Tooth Disease, Type 4B1
Irregular myelin loops, Facial palsy, Distal sensory impairment, Myelin outfoldings OMIM:601382
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Cerebellar atrophy, Myoclonus, Gait ataxia, Dysmetria, Distal sensory impairment, ... OMIM:616505
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Gait ataxia, Status epilepticus, Seizure OMIM:612075
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Leukodystrophy, Hypomyelinating, 15
Optic atrophy, Spasticity, CNS hypomyelination, Cerebellar atrophy, Seizure, Leukodystrophy, Cere... OMIM:617951
Gaucher Disease Type 2
Spasticity, Abnormal pattern of respiration, Respiratory distress, Dystonia, Generalized myocloni... ORPHA:77260
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Retrocollis, Li... OMIM:612067
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... ORPHA:171439
Perry Syndrome
Short stepped shuffling gait, Central hypoventilation, Akinesia, Hypoventilation, Rigidity, Tremo... OMIM:168605
Dystonia 37, Early-Onset, With Striatal Lesions
Generalized dystonia, Chorea, Leg dystonia, Loss of ambulation, Oculomotor apraxia, Ataxia, Chore... OMIM:620427
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Onion bulb formation, Peripheral hypomyelination OMIM:605253
Muscular Hypertonia, Lethal
Respiratory distress, Hypertonia OMIM:254120
Multiminicore Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... ORPHA:598
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Tip-toe gait, Seizure, Abnormal posturing, Inability to walk, Generalized dystonia, O... ORPHA:216866
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea OMIM:616414
Rigid Spine Syndrome
Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Hip contracture, Myop... ORPHA:97244
Alternating Hemiplegia Of Childhood
Seizure, Tetraparesis, Respiratory distress, Episodic hemiplegia, Chorea, Apnea, Tremor, Rigidity... ORPHA:2131
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r... ORPHA:53351
Developmental And Epileptic Encephalopathy 68
Spasticity, Respiratory distress, Myoclonus, Clonus, Exaggerated startle response, Status epilept... OMIM:618201
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Myopathy, Myofibrillar, 2
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... OMIM:608810
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Spinocerebellar Ataxia 13
Optic atrophy, Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Limb dysmetria, Myoclonu... OMIM:605259
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Spinocerebellar Ataxia Type 36
Loss of Purkinje cells in the cerebellar vermis, Tongue fasciculations, Limb myoclonus, Hand trem... ORPHA:276198
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Spasticity, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Cerebellar ve... OMIM:614381
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Muscle fiber atrophy, Cogwheel rigidity, Action tremor, Myopathy, Ragged-re... ORPHA:254886
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa... OMIM:123320
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spasticity, Spastic paraparesis, Seizure, Cerebral atrophy, Peripheral demyelination, Myoclonus, ... OMIM:609136
Combined Malonic And Methylmalonic Aciduria
Generalized clonic seizure, Dehydration OMIM:614265
Spinocerebellar Ataxia, Autosomal Recessive 33
Broad-based gait, Febrile seizure (within the age range of 3 months to 6 years), Dilated fourth v... OMIM:620208
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Seizure, Tremor, Spastic tetraparesis OMIM:619470
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Optic atrophy, Leukodystrophy, Dysmetria, Babinski sign, Head titubation, Delayed CNS myelination... OMIM:618688
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Difficulty walking, Motor axonal neuropathy, Impaired tactile sensation, Abnormal myelination, Im... ORPHA:466768
Muscular Dystrophy, Congenital, With Or Without Seizures
Myoclonic seizure, Generalized non-motor (absence) seizure, Respiratory distress, Generalized-ons... OMIM:620166
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... OMIM:608099
Myasthenic Syndrome, Congenital, 25, Presynaptic
Flexion contracture, Myopathy, Generalized amyotrophy OMIM:618323
Huntington Disease-Like 3
Spasticity, Seizure, Chorea, Abnormality of extrapyramidal motor function, Dystonia, Caudate atro... OMIM:604802
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Progressive spastic paraplegia, Babinski sign, Gait disturbance, Ataxia OMIM:612020
Mitochondrial Complex I Deficiency, Nuclear Type 15
Dystonia, Flexion contracture, Spastic tetraplegia, Myopathy OMIM:618237
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Spastic paraplegia, Seizure, Speech apraxia, Tachypnea, Abnormal py... ORPHA:415
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Proximal Myopathy With Extrapyramidal Signs
Optic atrophy, Involuntary movements, Resting tremor, Progressive extrapyramidal muscular rigidit... ORPHA:401768
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia OMIM:183050
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Freezing of gait, Rigidit... ORPHA:99750
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Impaired pain sensation, Tremor, Gait disturbance, Paraparesis, Ataxia ORPHA:99014
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Spasticity, Shuffling gait, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Rigidity, Ba... ORPHA:247234
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Tremor, Ataxia ORPHA:1368
Joubert Syndrome With Oculorenal Defect
Tachypnea, Apnea, Seizure, Ataxia ORPHA:2318
Congenital Myopathy 4B, Autosomal Recessive
Shoulder girdle muscle atrophy, Nemaline bodies, Distal lower limb amyotrophy, Facial diplegia, D... OMIM:609284
High Altitude Pulmonary Edema
Dyspnea, Pulmonary edema, Tachypnea, Orthopnea ORPHA:330012
Spinocerebellar Ataxia 8
Spasticity, Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cere... OMIM:608768
Malignant Hyperthermia, Susceptibility To, 3
Anesthetic-induced rhabdomylosis, Alcohol-induced rhabdomyolysis, Exercise-induced rhabdomyolysis... OMIM:154276
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Seizure, Myoclonus, Babinsk... OMIM:620538
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Seizure, Intention tremor, Tremor, Hemiparesis, Ataxia, Status epilepticus, Focal-ons... OMIM:614307
Spinocerebellar Ataxia 6
Cerebellar atrophy, Frequent falls, Incoordination, Dysmetria, Loss of ambulation, Ataxia, Trunca... OMIM:183086
Ataxia-Telangiectasia-Like Disorder 1
Dysdiadochokinesis, Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Dystonia, Lower limb spas... OMIM:604391
Late-Infantile/Juvenile Krabbe Disease
Spastic paraparesis, Acroparesthesia, Abnormal CNS myelination, Seizure, Febrile seizure (within ... ORPHA:206443
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Myopathy, Distal, 3
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Clumsiness... OMIM:610099
Postencephalitic Parkinsonism
Involuntary movements, Oculogyric crisis, Resting tremor, Seizure, Akinesia, Paresthesia, Cogwhee... ORPHA:97349
Autosomal Dominant Spastic Paraplegia Type 9B
Focal dystonia, Postural tremor, Upper motor neuron dysfunction, Loss of ambulation, Progressive ... ORPHA:447757
Joubert Syndrome 25
Cerebellar hypoplasia, Oculomotor apraxia, Ataxia OMIM:616781
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Inability to walk, Limb fasciculations, Distal sensory impairment, T... ORPHA:90117
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Optic atrophy, Dysdiadochokinesis, Gait ataxia, Dysmetria, Babinski sign, Demyelinating periphera... ORPHA:504476
Spontaneous Periodic Hypothermia
Seizure, Abnormal pattern of respiration, Tremor, Gait disturbance, Ataxia ORPHA:29822
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... OMIM:605637
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Myopathy OMIM:255100
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Tremor, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait OMIM:614867
3-Hydroxy-3-Methylglutaric Aciduria
Spasticity, Seizure, Dehydration, Apnea, Myoclonus, Spastic hemiparesis, Tachypnea, Ataxia, Edema ORPHA:20
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Seizure, Tetraparesis, Cerebral atrophy, Myoclonus, Gait ata... ORPHA:363400
Malaria
Respiratory distress, Gait imbalance ORPHA:673
Familial Infantile Myoclonic Epilepsy
Blepharospasm, Cerebellar atrophy, Limb myoclonus, Seizure, Focal-onset seizure, Clumsiness, Bila... ORPHA:352582
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Optic atrophy, Loss of Purkinje cells in the cerebellar vermis, Ce... ORPHA:98755
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea OMIM:263000
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle weakness, Myo... OMIM:300580
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... OMIM:619566
Fragile X Tremor/Ataxia Syndrome
Poor fine motor coordination, Cerebellar atrophy, Resting tremor, Postural tremor, Gait ataxia, A... OMIM:300623
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Pseudobulbar paralysis, Difficulty walking, Intention tremor, Dysmetria, Diffuse cerebral atrophy... ORPHA:438114
Acute Lung Injury
Respiratory distress, Tachypnea, Dyspnea, Edema ORPHA:178320
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea ORPHA:141152
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Seizure, Inability to walk, Tremor, Cerebellar hypoplasia, Delayed CNS myelination, Hypertonia, A... OMIM:619556
L-2-Hydroxyglutaric Aciduria
Optic atrophy, Global brain atrophy, Cerebellar atrophy, Severe demyelination of the white matter... OMIM:236792
Dystonia 7, Torsion
Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu... OMIM:602124
Hypermanganesemia With Dystonia 2
Spasticity, Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Generalized dystonia, Inability t... OMIM:617013
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Pyruvate Carboxylase Deficiency
Tip-toe gait, Seizure, Abnormal pattern of respiration, Infantile spasms, Tremor, Tachypnea, Gene... ORPHA:3008
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ... ORPHA:352649
Phenylketonuria
Tremor, Lower limb spasticity, Seizure, Ataxia ORPHA:716
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Dystonia, Hypertonia, Seizure ORPHA:26792
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Spastic Ataxia 3, Autosomal Recessive
Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Loss of ambula... OMIM:611390
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Muscular dystrophy, Chorea, Muscle fiber atrophy, Myopathy, Trunc... ORPHA:369840
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Seizure, Incoordination, Tremor, Pontocerebellar atrophy, Cerebellar hypoplasia, Abnormal pyramid... OMIM:618060
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl... ORPHA:2593
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Optic atrophy, Cerebellar atrophy, Athetosis, Seizure, Cerebral atrophy, Dysmetria, Tremor, Diffu... OMIM:617710
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:608807
Sialidosis Type 2
Seizure, Ascites, Tremor, Ataxia, Dyspnea, Hydrops fetalis, Pedal edema ORPHA:87876
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Difficulty walking, Axonal degeneration, Abnormal lower motor neur... OMIM:602433
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apr... OMIM:602481
Dystonia 24
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia OMIM:615034
Gm2 Gangliosidosis, Ab Variant
Seizure, Cerebral atrophy, Neurodegeneration, Chorea, Progressive spastic quadriplegia, Abnormal ... ORPHA:309246
Biotinidase Deficiency
Tachypnea, Apnea, Seizure, Ataxia OMIM:253260
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Seizure, Tremor, Rigidity, Gait disturbance, Ataxia OMIM:603472
Boucher-Neuhauser Syndrome
Spasticity, Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait ataxia, Ataxia, Spin... OMIM:215470
Developmental And Epileptic Encephalopathy 1
Generalized myoclonic seizure, Infantile spasms, Focal-onset seizure, Dystonia, Tonic seizure, Ab... OMIM:308350
Glutaric Acidemia I
Seizure, Symmetrical progressive peripheral demyelination, Rigidity, Opisthotonus, Dystonia, Dela... OMIM:231670
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... OMIM:310440
Giant Axonal Neuropathy 1, Autosomal Recessive
Spastic paraplegia, Sensory axonal neuropathy, Abnormal cerebellum morphology, Distal sensory imp... OMIM:256850
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... OMIM:606703
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Tongue fasciculations, Hand tremor, Distal sensory impairment, Chronic axonal neuropathy, Impaire... OMIM:162400
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy OMIM:158800
Heart-Hand Syndrome, Slovenian Type
Myopathy OMIM:610140
Serotonin Syndrome
Seizure, Myoclonus, Tremor, Rigidity, Tachypnea, Clonus, Hypertonia ORPHA:43116
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Type 1 muscle fiber predominance, Limb muscle weakness, Myopathy, Type 2 m... OMIM:603034
Huntington Disease-Like 2
Cerebral cortical atrophy, Chorea, Action tremor, Rigidity, Dystonia, Bradykinesia OMIM:606438
Gerstmann-Straussler Disease
Spasticity, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsoni... OMIM:137440
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi... ORPHA:240071
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Myopathy OMIM:618246
Congenital Myasthenic Syndromes With Glycosylation Defect
Generalized weakness of limb muscles, Type 1 muscle fiber predominance, Ragged-red muscle fibers,... ORPHA:353327
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Seizure, Cerebral atrophy, Tremor, Cerebellar hypoplasia, Ataxia, Dystonia, Choreo... OMIM:619422
Episodic Ataxia Type 1
Tip-toe gait, Respiratory distress, Clumsiness, Hypertonia, Poor coordination, Choreoathetosis ORPHA:37612
Nipah Virus Disease
Respiratory distress, Tremor, Myoclonus, Seizure ORPHA:99825
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Seizure, Inability to walk, Facial diplegia, Axonal degeneration/regeneration, Tremor, Peripheral... OMIM:218000
Trigeminal Neuralgia
Somatic sensory dysfunction, Cranial nerve compression, Peripheral demyelination, Paresthesia, CN... ORPHA:221091
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers OMIM:609283
Chronic Pneumonitis Of Infancy
Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions ORPHA:91359
Gm2-Gangliosidosis, Ab Variant
Myoclonic seizure, Seizure, Cerebral atrophy, Neurodegeneration, Chorea, Dystonia, Paralysis, Abn... OMIM:272750
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Weakness of ... ORPHA:59135
Hyperphenylalaninemia, Bh4-Deficient, A
Seizure, Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykine... OMIM:261640
Hsd10 Disease, Infantile Type
Optic atrophy, Frontotemporal cerebral atrophy, Poor coordination, Seizure, Cerebral atrophy, Neu... ORPHA:391428
Parkinsonism With Polyneuropathy
Resting tremor, Rigidity, Diffuse cerebral atrophy, Parkinsonism with favorable response to dopam... OMIM:619279
Charcot-Marie-Tooth Disease And Deafness
Tremor, Distal sensory impairment, Steppage gait, Gait disturbance, Axonal loss OMIM:118300
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or... ORPHA:420485
Ethylene Glycol Poisoning
Seizure, Abnormal pattern of respiration, Myoclonus, Episodic respiratory distress, Pulmonary ede... ORPHA:31826
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Type 1 muscl... OMIM:160150
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Spinocerebellar Ataxia Type 13
Optic atrophy, Cerebellar atrophy, Seizure, Difficulty walking, Limb ataxia, Myoclonus, Gait atax... ORPHA:98768
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Myoclonus, Dehydration, Ataxia OMIM:560000
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Gait ataxia, Impaired vibration sen... ORPHA:90103
Recessive Mitochondrial Ataxia Syndrome
Impaired vibratory sensation, Sensory axonal neuropathy, Seizure, Limb dysmetria, Positive Romber... ORPHA:94125
Glutamate-Cysteine Ligase Deficiency
Myopathy, Ataxia ORPHA:33574
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Global brain atrophy, Pill-rolling tremor, Resting tremor... OMIM:612953
Alzheimer Disease 3
Cerebral cortical atrophy, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Dyst... OMIM:607822
Dna2-Related Mitochondrial Dna Deletion Syndrome
Limb-girdle muscle weakness, Multiple joint contractures, Myopathy ORPHA:352470
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Tachypnea OMIM:620085
Infantile-Onset X-Linked Spinal Muscular Atrophy
Tongue fasciculations, Ankle flexion contracture, Abnormal anterior horn cell morphology, Skeleta... ORPHA:1145
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Spasticity, Seizure, Chorea, Infantile spasms, Gait ataxia, Abnormality of Krebs c... ORPHA:255210
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Tongue fasciculations, Diaphragmatic paralysis, Seizure OMIM:614399
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Spasticity, Cerebral cortical atrophy, Pseudobulbar paralysis, Tremor, Babins... OMIM:616586
Pelizaeus-Merzbacher Disease, Classic Form
Spasticity, Difficulty walking, Head tremor, Abnormality of extrapyramidal motor function, Dyston... ORPHA:280219
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Charcot-Marie-Tooth Disease Type 4C
Tongue fasciculations, Vocal cord paresis, Optic atrophy, Facial paralysis, Impaired pain sensati... ORPHA:99949
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, Seizure, Apnea, Tremor, ... OMIM:300055
Nemaline Myopathy 8
Myofibrillar myopathy, Nemaline bodies, Flexion contracture, Facial palsy OMIM:615348
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Axonal degeneration, Bilater... ORPHA:478029
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253601
Adrenoleukodystrophy
Spastic paraplegia, Seizure, Incoordination, Neurodegeneration, Limb ataxia, Paraparesis, Truncal... OMIM:300100
Ataxia With Vitamin E Deficiency
Hemiplegia/hemiparesis, Dysmetria, Tremor, Abnormal pyramidal sign, Gait disturbance, Hypertonia,... ORPHA:96
Molybdenum Cofactor Deficiency, Type B
Seizure, Cerebral atrophy, Peripheral demyelination, Diffuse cerebral atrophy, Opisthotonus, Axon... OMIM:252160
Chronic Hiccup
Dehydration ORPHA:396
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri... OMIM:300696
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Tachypnea, Nasal flaring ORPHA:70587
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Seizure, Tetraparesis, Inability to walk, Chorea, Gait ataxia, Action tremor,... OMIM:607483
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea, Seizure ORPHA:163961
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Head tremor, Tremor, Pontocerebellar atroph... OMIM:606002
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Recurrent Respiratory Papillomatosis
Respiratory distress, Tachypnea, Dyspnea ORPHA:60032
Cardiomyopathy, Dilated, 2H
Tachypnea OMIM:620203
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Tachypnea, Abnormal posturing OMIM:614857
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Chorea, Hemiplegia/hemiparesis, Dystonia, Choreoathetosis ORPHA:289916
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Peho Syndrome
Optic atrophy, Cerebellar atrophy, Seizure, Peripheral dysmyelination, Myoclonus, Neuronal loss i... OMIM:260565
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Malignant Hyperthermia, Susceptibility To, 2
Anesthetic-induced rhabdomylosis, Alcohol-induced rhabdomyolysis, Exercise-induced rhabdomyolysis... OMIM:154275
Tangier Disease
Impaired pain sensation, Impaired temperature sensation, Peripheral demyelination, Facial diplegi... OMIM:205400
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities OMIM:609452
Myopathy, Myofibrillar, 6
Muscular dystrophy, Lower limb muscle weakness, Myofibrillar myopathy, Knee flexion contracture, ... OMIM:612954
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia OMIM:605909
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis, Myopathy OMIM:170400
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Seizure, Apnea, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, ... OMIM:618056
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... OMIM:615422
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Weakness of facial muscula... ORPHA:171445
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Fasciculations, Ankle clonus, Babinski sign, Abnormal pyramidal sign, Lower l... OMIM:618598
Dystonia 34, Myoclonic
Hand tremor, Head tremor, Myoclonus, Impaired tandem gait, Torticollis, Writer's cramp, Dystonia OMIM:619724
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Spastic paraparesis, Difficulty walking, Inability to walk, Facial diplegia, Dista... ORPHA:254930
Transient Neonatal Diabetes Mellitus
Dehydration, Seizure ORPHA:99886
Multifocal Atrial Tachycardia
Dyspnea, Tachypnea ORPHA:3282
Pyruvate Dehydrogenase E2 Deficiency
Broad-based gait, Arm dystonia, Difficulty walking, Speech apraxia, Neurodegeneration, Paroxysmal... ORPHA:79244
Spinocerebellar Ataxia Type 8
Ataxia, Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cer... ORPHA:98760
Cardiocranial Syndrome, Pfeiffer Type
Episodic tachypnea, Torticollis ORPHA:2872
Isolated Glycerol Kinase Deficiency
Myopathy ORPHA:408
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pleural effusion, Tachypnea, Dyspnea, Pleural empyema ORPHA:36238
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Spasticity, Myopathy, Ataxia OMIM:125250
Riboflavin Transporter Deficiency
Cerebral cortical atrophy, Seizure, Abnormal cranial nerve morphology, Myoclonus, Tremor, Ataxia,... ORPHA:97229
Leber Optic Atrophy
Dystonia, Postural tremor, Myopathy, Ataxia OMIM:535000
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Tremor OMIM:619651
Ataxia-Oculomotor Apraxia 3
Cerebellar atrophy, Distal sensory impairment, Dysmetria, Peripheral axonal neuropathy, Oculomoto... OMIM:615217
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Axonal regeneration, Distal sensory impairment, Decreased number of peripheral myelinated nerve f... OMIM:607831
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Tachypnea ORPHA:264675
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait ORPHA:209335
Central Core Disease
Nemaline bodies, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Central... ORPHA:597
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea OMIM:616501
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, Elbow flexion contracture, Knee flexion contracture, Myopathy, Decreased... OMIM:310300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Joint contracture of the hand, Muscular dystrophy, Elbow flexion contracture, Babinski sign, Calf... OMIM:608840
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Diaphragmatic paralysis, Tachypnea OMIM:604320
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Macroglossia, Increased muscl... ORPHA:254864
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Limb muscle weakness, Myopathy, Type 2 muscle fiber atrophy OMIM:605809
Spinocerebellar Ataxia Type 42
Upper limb postural tremor, Cerebellar atrophy, Resting tremor, Cerebellar vermis atrophy, Head t... ORPHA:458803
Combined Oxidative Phosphorylation Deficiency 32
Optic atrophy, Spasticity, Cerebellar atrophy, Seizure, Inability to walk, Tremor, Dystonia, Chor... OMIM:617664
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Respiratory distress, Nocturnal hypoventilation, Gait imbalance, Ankle clo... OMIM:211530
X-Linked Centronuclear Myopathy
Respiratory distress, Polyhydramnios, Inability to walk ORPHA:596
Holocarboxylase Synthetase Deficiency
Hyperventilation, Tachypnea, Hypertonia, Seizure OMIM:253270
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Cerebellar vermis atrophy, Head tremor, Gait imbalance, Postural tre... ORPHA:64753
Manganese Poisoning
Postural tremor, Akinesia, Cogwheel rigidity, Abnormality of extrapyramidal motor function, Dysto... ORPHA:306682
Myopathy With Extrapyramidal Signs
Optic atrophy, Seizure, Difficulty walking, Cerebellar dysplasia, Chorea, Tremor, Abnormality of ... OMIM:615673
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Aicardi-Goutieres Syndrome 6
Leukodystrophy, Tremor, Rigidity, Loss of ambulation, Dystonia OMIM:615010
Congenital Myopathy 9A
Tongue fasciculations, Akinesia, Oligohydramnios OMIM:618822
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Adducted Thumbs Syndrome
Arthrogryposis multiplex congenita, Myopathy OMIM:201550
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Spasticity, Seizure, Inability to walk, Tremor, Brain atrophy OMIM:618718
Aceruloplasminemia
Blepharospasm, Involuntary movements, Chorea, Limb ataxia, Gait ataxia, Akinesia, Tremor, Rigidit... ORPHA:48818
Pyruvate Dehydrogenase E1-Alpha Deficiency
Seizure, Episodic ataxia, Cerebral atrophy, Myoclonus, Tremor, Lethargy, Dystonia, Choreoathetosis OMIM:312170
Acute Interstitial Pneumonia
Peripheral edema, Pleural effusion, Tachypnea, Dyspnea, Pericardial effusion ORPHA:79126
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Facial edema, Angioedema, Respiratory distress, Tongue edema, Laryngeal edema, Palpebral edema, P... ORPHA:100057
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Peripheral axonal neuropathy, Somatic sensory dysfunction ORPHA:101082
Nemaline Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, N... OMIM:256030
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Spasticity, Seizure, Respiratory distress, Generalized-onset seizure, Gait disturbance, Poor coor... OMIM:250940
Saccharopinuria
Seizure, Gait ataxia, Tremor, Distal sensory impairment, Spastic diplegia ORPHA:3124
Isolated Atp Synthase Deficiency
Spastic paraplegia, Myoclonic seizure, Seizure, Respiratory distress, Tetraplegia, Ataxia, Dystonia ORPHA:254913
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:254210
Parkinson Disease 20, Early-Onset
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Cerebral cortical atrophy, T... OMIM:615530
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia OMIM:607876
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Orofaciodigital Syndrome Type 6
Seizure, Episodic tachypnea, Apnea, Tremor, Gait disturbance, Ataxia ORPHA:2754
Spinocerebellar Ataxia 27A
Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Abno... OMIM:193003
Syngap1-Related Developmental And Epileptic Encephalopathy
Myoclonic absence seizure, Generalized-onset seizure, Eating-induced seizure, Tremor, Gait distur... ORPHA:544254
Neuroferritinopathy
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Chorea, L... ORPHA:157846
Perching Syndrome
Respiratory distress OMIM:617055
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cerebral cortical atrophy, Tremor, Photosensitive myoclonic seizure, Gait disturbance, Aplasia/Hy... ORPHA:1192
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Chorea, Myopathy, Hyperkinetic movements, Truncal ataxia ORPHA:369847
Myopathy Due To Myoadenylate Deaminase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Myopathy OMIM:615511
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Tremor, Seizure, Ataxia OMIM:608799
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy ORPHA:1369
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration OMIM:251850
Mohr-Tranebjaerg Syndrome
Optic atrophy, Shuffling gait, Global brain atrophy, Generalized dystonia, Inability to walk, Tre... ORPHA:52368
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Positive Romberg sign, Dysmetria, Impaired proprioception, Clumsiness, Gait d... OMIM:277460
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Decreased cervical spine flexion due to contractur... ORPHA:254361
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Seizure, Cerebral atrophy, Neurodegeneration, Generalized dystonia, Chorea, Infantile spasms, Gai... OMIM:618321
Glutathionuria
Dysdiadochokinesis, Action tremor, Tremor OMIM:231950
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Seizure OMIM:300934
Congenital Muscular Dystrophy Without Intellectual Disability
Muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Facial diplegia, Proximal amyotrophy... ORPHA:370980
Cocaine Intoxication
Involuntary movements, Seizure, Respiratory distress, Atypical absence status epilepticus, Focal-... ORPHA:90068
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Spasticity, Skeletal muscle atrophy,... OMIM:248800
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Torsion dystonia, Tremor, Torticollis OMIM:224500
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Episodic tachypnea OMIM:615160
Mitochondrial Complex I Deficiency, Nuclear Type 28
Generalized-onset seizure, Akinesia, Lower limb spasticity, Abnormal pyramidal sign, Truncal atax... OMIM:618249
Unilateral Polymicrogyria
Spastic tetraplegia, Involuntary movements, Abnormal posturing, Seizure, Pseudobulbar paralysis, ... ORPHA:268943
Joubert Syndrome 2
Seizure, Episodic tachypnea, Oculomotor apraxia, Central apnea, Ataxia OMIM:608091
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Seizure, Impaired vibration sensation in the lower limbs, Gait ataxia, Positi... ORPHA:88628
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Ragged-red muscle fibers, Myopathy, Hemiparesis OMIM:540000
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Optic atrophy, Spasticity, Global brain atrophy, Neurodegeneration, Akinesia, Cere... OMIM:234200
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Difficulty walking, Generalized-onset seizure ORPHA:254875
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination OMIM:616733
Hyperphenylalaninemia, Bh4-Deficient, B
Seizure, Tremor, Rigidity, Hyperkinetic movements, Lethargy, Limb hypertonia, Dystonia, Choreoath... OMIM:233910
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Macroglossia, Myopathy, Skeletal muscle hypertrophy ORPHA:2349
Fructose-1,6-Bisphosphatase Deficiency
Seizure, Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes... ORPHA:348
Central Diabetes Insipidus
Dehydration, Seizure ORPHA:178029
Molybdenum Cofactor Deficiency, Type A
Seizure, Cerebral atrophy, Peripheral demyelination, Opisthotonus, Myoclonic spasms, Axonal loss,... OMIM:252150
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Ataxia, Broad-based gait, Seizure, Respiratory distress, Exaggerated startle response, Dystonia ORPHA:438216
Lethal Recessive Chondrodysplasia
Respiratory distress, Polyhydramnios, Edema ORPHA:1423
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Myopathy ORPHA:300179
Glycogen Storage Disease X
Rhabdomyolysis, Myopathy OMIM:261670
Mitochondrial Myopathy And Sideroblastic Anemia
Myopathy, Generalized limb muscle atrophy ORPHA:2598
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea ORPHA:1832
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Dehydration OMIM:616069
Avian Influenza
Respiratory distress, Tachypnea, Dyspnea, Pleural effusion ORPHA:454836
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Seizure OMIM:619466
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... ORPHA:353
Immunodeficiency 95
Respiratory distress OMIM:619773
Familial Cold Urticaria
Dysesthesia, Dehydration ORPHA:47045
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Tetraparesis, Action tremor, Distal sensory impairment, Abnormal pyramidal sign, Clon... ORPHA:99027
Developmental And Epileptic Encephalopathy 46
Seizure, Cerebral atrophy, Generalized-onset seizure, Tremor, Limb hypertonia OMIM:617162
Congenital Myopathy 2A, Typical, Autosomal Dominant
Nemaline bodies, Arthrogryposis multiplex congenita, Limb muscle weakness, Type 1 muscle fiber pr... OMIM:161800
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration, Craniofacial dystonia, Diaphragmatic paralysis, Fr... OMIM:620011
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Tremor, Dehydration, Seizure OMIM:251100
Multiple System Atrophy
Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py... ORPHA:102
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, Axial dystonia, Rigi... ORPHA:227510
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Scorpion Envenomation
Seizure, Hemifacial spasm, Paresthesia, Myoclonus, Tremor, Hyperkinetic movements, Pulmonary edem... ORPHA:466677
Parkinson Disease 1, Autosomal Dominant
Shuffling gait, Global brain atrophy, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Dy... OMIM:168601
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myopathy, Rhabdomyolysis, Tremor, Ataxia ORPHA:713
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Vocal cord paresis, Impaired pain sensation, Edema, Fasciculations, Impaired temperature sensatio... OMIM:619574
Carnitine Deficiency, Systemic Primary
Respiratory distress, Dehydration OMIM:212140
Succinic Acidemia
Respiratory distress OMIM:600335
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Paraplegia, Seizure, Ataxia ORPHA:927
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Skeletal muscle atrophy, Myopathy ORPHA:157973
Multiple System Atrophy 1, Susceptibility To
Neurodegeneration, Tremor, Rigidity, Olivopontocerebellar atrophy, Babinski sign, Parkinsonism, A... OMIM:146500
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy ORPHA:91130
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Seizure, Cerebral atrophy, Peripheral demyelination, Infantile spasms, Lethargy, A... ORPHA:79282
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Generalized amyotrophy, Pelvic girdle muscle weakness, Myopathy, Shoulder girdle muscle weakness OMIM:615156
Autosomal Dominant Spastic Paraplegia Type 9A
Falls, Seizure, Impaired vibration sensation in the lower limbs, Abnormal cerebellum morphology, ... ORPHA:447753
Xeroderma Pigmentosum, Complementation Group F
Deficient excision of UV-induced pyrimidine dimers in DNA, Tremor, Ataxia, Defective DNA repair a... OMIM:278760
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Spasticity, Spastic tetraplegia, Seizure, Difficulty walking, Neurodegeneration, R... OMIM:618476
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Dysdiadochokinesis, Cerebellar atrophy, Seizure, Peripheral hypomyelination, Chronic axonal neuro... OMIM:612780
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Seizure, Tremor, Rigidity, Dystonia, Limb hypertonia, Bradykin... ORPHA:70594
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Spasticity, Seizure, Respiratory distress, Infantile spasms, Edema of the dorsum of hands, Bilate... ORPHA:544503
X-Linked Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98863
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Dystonia, Pa... OMIM:613280
Oromandibular Dystonia
Blepharospasm, Generalized dystonia, Laryngeal dystonia, Respiratory distress, Limb dystonia, Hyp... ORPHA:93958
Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98853
Hypophosphatasia, Childhood
Myopathy OMIM:241510
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Oligohydramnios, Fasciculations ORPHA:1143
Familial Isolated Dilated Cardiomyopathy
Myopathy ORPHA:154
Parkinson Disease 23, Autosomal Recessive Early-Onset
Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign OMIM:616840
Cholera
Hyperventilation, Tachypnea, Dehydration, Seizure ORPHA:173
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Seizure OMIM:614741
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Tachypnea, Bilateral tonic-clonic seizure OMIM:201475
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Optic atrophy, Seizure, Cerebral atrophy, Neurodegeneration, Gait ataxia, Dystonia, Gait disturba... OMIM:616878
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Resting tremor, Seizure, Tremor, Parkinsonism, Lower limb spast... ORPHA:3077
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Spastic paraplegia, Resting tremor, Abnormal upper motor neuron mor... OMIM:601162
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Tachypnea OMIM:613320
Coronary Arterial Fistula
Tachypnea, Exertional dyspnea, Orthopnea, Pedal edema ORPHA:2041
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
CNS hypomyelination, Cerebellar atrophy, Seizure, Cerebral atrophy, Difficulty walking, Speech ap... OMIM:615356
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... OMIM:620249
Ataxia-Oculomotor Apraxia 4
Impaired vibratory sensation, Cerebellar atrophy, Oculomotor apraxia, Abnormal pyramidal sign, Te... OMIM:616267
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... ORPHA:75840
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Spastic gait, Basal lamina onion bulb formation, Progressive spastic paraplegia, Demyelinating pe... ORPHA:2821
Joubert Syndrome 1
Hemifacial spasm, Episodic tachypnea, Oculomotor apraxia, Central apnea, Ataxia OMIM:213300
Combined Oxidative Phosphorylation Deficiency 47
Dehydration OMIM:618958
Ataxia-Telangiectasia
Spasticity, Abnormality of chromosome stability, Seizure, Tremor, Gait disturbance, Ataxia ORPHA:100
Waisman Syndrome
Shuffling gait, Resting tremor, Seizure, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism ... OMIM:311510
Jaberi-Elahi Syndrome
Optic atrophy, Broad-based gait, Inability to walk, Cerebellar vermis atrophy, Gait ataxia, Dysme... OMIM:617988
Cerebrooculofacioskeletal Syndrome 1
Dehydration, Seizure OMIM:214150
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Leukoencephalopathy With Ataxia
Optic neuropathy, Limb ataxia, Gait ataxia, Action tremor OMIM:615651
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98855
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Difficulty walking, Impaired vibration sensation in the lower limbs, Head tremor, ... ORPHA:95433
Tay-Sachs Disease
Incoordination, Poor fine motor coordination, Global brain atrophy, Inability to walk, Dysmetria,... ORPHA:845
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Tachypnea, Pericardial effusion ORPHA:26793
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Dehydration, Seizure OMIM:251000
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Mitochondrial Complex I Deficiency, Nuclear Type 14
Myopathy OMIM:618236
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Shoulder girdle musc... OMIM:606612
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Spasticity, Broad-based gait, Leukodystrophy, Neurodegeneration, Peripheral demyelination, Progre... OMIM:619475
Primary Progressive Freezing Gait
Cerebral cortical atrophy, Shuffling gait, Difficulty walking, Postural tremor, Gait imbalance, R... ORPHA:75567
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Spasticity, CNS hypomyelination, Cerebellar atrophy, Seizure, Neurodegeneration, N... OMIM:616239
Cystinosis
Abnormal pyramidal sign, Gait disturbance, Dehydration ORPHA:213
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Tachypnea, Pleural effusion ORPHA:542323
Parkinson Disease, Late-Onset
Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Neuronal ... OMIM:168600
Phosphoglycerate Kinase 1 Deficiency
Rhabdomyolysis, Myopathy, Ataxia OMIM:300653
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration ORPHA:28
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py... ORPHA:98933
Congenital Muscular Dystrophy, Fukuyama Type
Muscular dystrophy, Camptodactyly of finger, Myopathy, Hypoglycosylation of alpha-dystroglycan, F... ORPHA:272
Primary Pulmonary Hypoplasia
Tachypnea, Apnea ORPHA:2257
Marinesco-Sjögren Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Spasticity, Muscular dystrophy, Skeletal m... ORPHA:559
Isovaleric Acidemia
Dehydration, Seizure OMIM:243500
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Abnormal cerebellum morphology, Tremor OMIM:190310
Isolated Succinate-Coq Reductase Deficiency
Spasticity, Spastic paraparesis, Distal amyotrophy, Skeletal muscle atrophy, Knee flexion contrac... ORPHA:3208
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tip-toe gait, Cerebral atrophy, Tremor, Babinski sign, Gait disturbance ORPHA:83629
Myoclonic-Astatic Epilepsy
Ataxia, Generalized non-motor (absence) seizure, Focal-onset seizure, Tremor, Bilateral tonic-clo... ORPHA:1942
Pleural Mesothelioma
Respiratory distress, Dyspnea, Pleural effusion ORPHA:50251
Japanese Encephalitis
Pill-rolling tremor, Abnormal pattern of respiration, Respiratory distress, Myoclonus, Cogwheel r... ORPHA:79139
Biotinidase Deficiency
Spastic paraparesis, Seizure, Respiratory distress, Apnea, Infantile spasms, Bilateral tonic-clon... ORPHA:79241
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Cerebral palsy, Fasciculations, Periodic hyperkalemic paralysis, Myopath... ORPHA:682
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Myopathy, Myositis, Muscle fibe... ORPHA:206569
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Calf muscle hypertrophy, Limb muscle weakness, Tremor, Fasciculations OMIM:313200
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Cerebellar dysplasia, Tremor, Hyperkinetic movements, Gait disturbance, Bilateral tonic-... ORPHA:457240
Acquired Partial Lipodystrophy
Myopathy ORPHA:79087
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Pelvic girdle muscle weakness, Calf muscle hypert... ORPHA:119
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Bradykinesia, Muscle fib... OMIM:258450
Methylmalonyl-Coa Epimerase Deficiency
Spasticity, Dehydration OMIM:251120
Reticular Dysgenesis
Dehydration ORPHA:33355
Bronchopulmonary Dysplasia
Respiratory distress, Dyspnea, Central apnea, Diaphragmatic paralysis ORPHA:70589
Gillespie Syndrome
Cerebellar atrophy, Postural tremor, Cerebellar hypoplasia, Ataxia, Slurred speech OMIM:206700
Intermediate Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Flex... ORPHA:171433
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Tip-toe gait, Difficulty walking, Inability to walk, Paresthesia, Distal sensory i... ORPHA:99956
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Ascites, Pleural effusion, Hydrops fetalis, Chylopericardium ORPHA:2414
Late Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Spasticity, Myoclonic seizure, Typical absence seizure, Cerebellar atrophy, Seizure, Cere... ORPHA:168491
Lipodystrophy, Familial Partial, Type 6
Muscular dystrophy, Myopathy, Skeletal muscle atrophy, Lower limb muscle weakness OMIM:615980
Autosomal Dominant Optic Atrophy Plus Syndrome
Spastic paraplegia, Limb-girdle muscle weakness, Myopathy, Ataxia ORPHA:1215
Intellectual Developmental Disorder, X-Linked 12
Cerebellar vermis hypoplasia, Spasticity, Seizure, Abnormal cerebellum morphology, Tremor, Hyperk... OMIM:300957
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Seizure, Respiratory distress, Epileptic spasm, Speech apraxia, Apnea, Myoclonus, Hypoventilation... ORPHA:314655
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ... ORPHA:57
Lethal Congenital Contracture Syndrome 2
Polyhydramnios, Akinesia, Edema OMIM:607598
Surfactant Metabolism Dysfunction, Pulmonary, 4
Tachypnea OMIM:300770
Glycogen Storage Disease Iii
Distal amyotrophy, Myopathy OMIM:232400
Complex Regional Pain Syndrome
Involuntary movements, Somatic sensory dysfunction, Trophic changes related to pain, Allodynia, D... ORPHA:83452
Gaucher Disease, Perinatal Lethal
Seizure, Respiratory distress, Ascites, Akinesia, Apnea, Nonimmune hydrops fetalis, Opisthotonus,... OMIM:608013
De Sanctis-Cacchione Syndrome
Optic atrophy, Spasticity, Global brain atrophy, Leukodystrophy, Cerebral atrophy, Olivopontocere... OMIM:278800
Moebius Syndrome
Respiratory distress, Clumsiness, Gait disturbance, Poor coordination, Dysdiadochokinesis OMIM:157900
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Respiratory distress, Ascites, Increased nuchal translucen... OMIM:617300
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Tachypnea, Exertional dyspnea, Dyspnea OMIM:610921
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ... ORPHA:98913
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar vermis hypoplasia, Cerebellar atrophy, Athetosis, Seizure, Cerebral atrophy, Difficult... ORPHA:572798
Alfadhel Syndrome
Bilateral tonic-clonic seizure, Spastic paraplegia, Nasal flaring, Seizure OMIM:620655
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Gait ataxia, Myopathy, Ataxia OMIM:613077
Mitochondrial Complex I Deficiency, Nuclear Type 11
Myopathy OMIM:618234
Surfactant Metabolism Dysfunction, Pulmonary, 1
Dyspnea, Tachypnea, Apnea OMIM:265120
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Spasticity, Hypopnea, Seizure, Respiratory distress, Apnea, Myoclonus, Bilateral tonic-clonic sei... OMIM:618426
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Myoclonic seizure, Global brain atrophy, Seizure, Tetraparesis, Tremor, Rigidity, Cerebellar edem... OMIM:617186
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Frontotemporal cerebral atrophy, Seizur... ORPHA:199351
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory distress, Loss of ambulation OMIM:620375
Mercury Poisoning
Seizure, Respiratory distress, Tremor, Dyspnea, Dystonia ORPHA:330021
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Facial palsy, Increased endomysial connective tissue, Myopathy OMIM:602541
Joubert Syndrome 5
Episodic tachypnea, Oculomotor apraxia, Central apnea, Ataxia OMIM:610188
Mitochondrial Complex I Deficiency, Nuclear Type 37
Seizure, Respiratory distress, Opisthotonus, Tetraplegia, Hypertonia, Status epilepticus OMIM:619272
Wolcott-Rallison Syndrome
Difficulty walking, Ascites, Dehydration, Seizure ORPHA:1667
Familial Renal Glucosuria
Dehydration ORPHA:69076
Sneddon Syndrome
Tremor, Chorea, Seizure, Hemiparesis ORPHA:820
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Neurodegeneration, Delayed CNS myelination, Seizure OMIM:620210
O'Sullivan-Mcleod Syndrome
Upper limb muscle weakness, Hand muscle weakness, Fasciculations, Tremor, Intrinsic hand muscle a... ORPHA:99965
Amyloidosis, Hereditary Systemic 1
Spasticity, Spastic paraparesis, Seizure, Paraplegia, Limb ataxia, Positive Romberg sign, Tremor,... OMIM:105210
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
EMG: myopathic abnormalities, Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle we... ORPHA:99939
Cerebral Visual Impairment
Optic atrophy, Central nervous system degeneration, Cerebral palsy, Seizure, Neurodegeneration, C... ORPHA:447788
Lafora Disease
Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Gene... ORPHA:501
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Optic atrophy, Spasticity, Cerebellar atrophy, Resting tremor, Cerebral atrophy, Head tremor, Bab... ORPHA:314404
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Spasticity, Seizure, Generalized-onset seizure, Dysmetria, Tremor, Pulmonary edema, Tachypnea, At... OMIM:220111
Ataxia-Telangiectasia-Like Disorder 2
Neurodegeneration, Unsteady gait, Cerebellar atrophy, Ataxia OMIM:615919
Autosomal Dominant Optic Atrophy, Classic Form
Spastic paraplegia, Spasticity, Skeletal muscle atrophy, Myopathy, Hemiparesis, Weakness of facia... ORPHA:98673
Brain-Lung-Thyroid Syndrome
Involuntary movements, Falls, Respiratory distress, Incoordination, Chorea, Myoclonus, Intention ... ORPHA:209905
Arthrogryposis Multiplex Congenita 6
Polyhydramnios, Akinesia OMIM:619334
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Seizure OMIM:615042
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Arthrogryposis multiplex congenita, Flexion contracture, Increased endomysial ... ORPHA:178148
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral myelination, Steppage gait, Abnormal peripheral nerve morphology by anatomica... ORPHA:168563
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Spasticity, Spastic paraparesis, Distal sensory impairment, Babinski sign, Lower l... ORPHA:320375
Progressive Supranuclear Palsy
Blepharospasm, Cerebral cortical atrophy, Falls, Tremor, Rigidity, Dystonia, Neuronal loss in cen... ORPHA:683
Laryngomalacia
Respiratory distress OMIM:150280
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Myoclonic seizure, Gait ataxia, Inability to walk OMIM:619383
Choreoacanthocytosis
Resting tremor, Limb dystonia, Loss of ambulation, Peripheral axonal neuropathy, Parkinsonism, Fr... ORPHA:2388
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Amyotrophic lateral sclerosis, F... ORPHA:52430
Enteric Anendocrinosis
Dehydration ORPHA:83620
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Seizure, Myoclonus, Tremor, Loss of ambulation, Diffuse cerebral atrophy, Rig... OMIM:607426
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Resting tremor, Hand tre... OMIM:157640
Bacterial Toxic-Shock Syndrome
Respiratory distress, Tachypnea, Edema ORPHA:36234
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Seizure, Generalized-onset seizure, Tremor, Hemiparesis, Hypertonia... OMIM:619737
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions ORPHA:137935
Sting-Associated Vasculopathy, Infantile-Onset
Tachypnea OMIM:615934
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Facial diplegia, Foot dorsiflexo... ORPHA:171436
Microlissencephaly-Micromelia Syndrome
Seizure, Respiratory distress, Hypertonia, Polyhydramnios, Palpebral edema ORPHA:50810
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Generalized amyotrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature ORPHA:352447
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebral cortical atrophy, Inferior cerebellar vermis hypoplasia, Myoclonic seizure, Cerebellar a... OMIM:620327
Congenitally Uncorrected Transposition Of The Great Arteries
Tachypnea ORPHA:860
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Resting tremor, Akinesia, Rigidity, Dystonia, Parkinsonism, Parkinsonism with fav... ORPHA:411602
Supranuclear Palsy, Progressive, 1
Falls, Cerebral atrophy, Akinesia, Gait imbalance, Retrocollis, Limb dystonia, Tremor, Rigidity, ... OMIM:601104
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, EMG: myopathic abnormalities, Ge... OMIM:609560
Combined Oxidative Phosphorylation Deficiency 18
Increased mitochondrial number, Tremor, Dysmetria OMIM:615578
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Tachypnea, Apnea, Oculomotor apraxia ORPHA:397715
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Congenital Myasthenic Syndrome
Tip-toe gait, Seizure, Difficulty walking, Episodic respiratory distress, Ataxia, Polyhydramnios,... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Tip-toe gait, Seizure, Difficulty walking, Episodic respiratory distress, Ataxia, Polyhydramnios,... ORPHA:98914
Parkinson-Dementia Syndrome
Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity OMIM:260540
Arima Syndrome
Dyspnea, Tachypnea, Ataxia OMIM:243910
Bethlem Muscular Dystrophy
Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy, Quadriceps muscle weakness, Inter... ORPHA:610
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Seizure, Respiratory distress, Exertional dyspnea, Ataxia, Truncal ataxia OMIM:220110
Muscle-Eye-Brain Disease
Myopathy, Hemiplegia/hemiparesis, Hypertonia ORPHA:588
Isolated Permanent Neonatal Diabetes Mellitus
Apraxia, Bilateral tonic-clonic seizure, Ataxia, Generalized myoclonic seizure, Dehydration ORPHA:99885
Congenital Enterocyte Heparan Sulfate Deficiency
Dehydration, Edema ORPHA:103910
Hereditary Sensory And Autonomic Neuropathy Type 5
Pain insensitivity, Impaired temperature sensation, Decreased number of small peripheral myelinat... ORPHA:64752
Myopathy, Mitochondrial, And Ataxia
Difficulty walking, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Tremor,... OMIM:617675
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Spastic paraplegia, Spasticity, CNS hypomyelination, Dysmetria, Tremor, Babinski sign, Ataxia, Op... OMIM:618527
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Seizure, Akinesia, Generalized tonic seizure, Hypertonia, Spastic tetraplegia OMIM:619147
Early Infantile Epileptic Encephalopathy
Spasticity, Cerebellar atrophy, Generalized non-motor (absence) seizure, Episodic ataxia, Seizure... ORPHA:1934
Hypercalcemia, Infantile, 1
Dehydration OMIM:143880
Infantile Krabbe Disease
Hyperesthesia, Spasticity, Seizure, Respiratory distress, Myoclonus, Ankle clonus, Opisthotonus, ... ORPHA:206436
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Polyhydramnios, Akinesia, Seizure OMIM:225790
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Nemaline bodies, Flexion contracture, Myopathy OMIM:616549
Glutaryl-Coa Dehydrogenase Deficiency
Poor motor coordination, Seizure, Chorea, Infantile spasms, Pallidal degeneration, Limb dystonia,... ORPHA:25
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Left ventricular ... OMIM:619040
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress OMIM:616974
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Tachypnea, Dyspnea OMIM:610913
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Tachypnea, Peripheral edema, Exertional dyspnea ORPHA:99106
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Quadriceps muscle weakness, Shoulder girdle muscle weakness, Cogwheel rigidity, G... ORPHA:254892
Chanarin-Dorfman Syndrome
Myopathy, Ataxia OMIM:275630
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Generalized-onset seizure, Postural tremor, Myoclonus, Gait ataxia, Action tr... OMIM:254900
Stuve-Wiedemann Syndrome 2
Respiratory distress OMIM:619751
Niemann-Pick Disease Type C
Leukodystrophy, Speech apraxia, Limb dystonia, Axial dystonia, Frontal cortical atrophy, Abnormal... ORPHA:646
Cystathioninuria
Tremor, Seizure ORPHA:212
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Epilepsy, Progressive Myoclonic, 10
Spasticity, Spastic tetraplegia, Seizure, Myoclonus, Spastic ataxia, Ataxia, Generalized myocloni... OMIM:616640
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Pericardial effusion, Dyspnea, Pleural effusion ORPHA:411703
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Seizure, Myoclonus, Tachypnea, Tetraplegia, Dystonia OMIM:618278
Joubert Syndrome With Renal Defect
Seizure, Abnormal pattern of respiration, Apnea, Tremor, Oculomotor apraxia, Gait disturbance, At... ORPHA:220497
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Oligohydramnios ORPHA:261304
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Skeletal muscle atrophy, Myopathy, Ataxia ORPHA:42
Stt3B-Cdg
Respiratory distress, Seizure ORPHA:370924
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Spasticity, Myoclonus, Dehydration, Seizure OMIM:246450
Double Outlet Right Ventricle
Tachypnea ORPHA:3426
Congenital Lobar Emphysema
Respiratory distress ORPHA:1928
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
EMG: myopathic abnormalities, Tremor ORPHA:457365
Brachytelephalangic Chondrodysplasia Punctata
Tachypnea, Central apnea ORPHA:79345
Hereditary Angioedema Type 1
Facial edema, Respiratory distress, Tongue edema, Paresthesia, Laryngeal edema, Edema of the dors... ORPHA:100050
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Seizure OMIM:615597
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress OMIM:613561
Rh Deficiency Syndrome
Tachypnea, Oligohydramnios ORPHA:71275
Netherton Syndrome
Dehydration, Seizure ORPHA:634
Histiocytoid Cardiomyopathy
Pulmonary edema, Hemiplegia, Tachypnea, Seizure ORPHA:137675
Parkinson Disease 21
Parkinsonism, Bradykinesia, Tremor, Rigidity OMIM:616361
Sengers Syndrome
Myopathy OMIM:212350
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Skele... OMIM:607459
Hyperparathyroidism, Neonatal Severe
Dyspnea, Tachypnea OMIM:239200
Wolfram Syndrome 1
Optic atrophy, Cerebral atrophy, Seizure, Tremor, Ataxia OMIM:222300
Sneddon Syndrome
Seizure, Hemiplegia, Tremor, Impaired distal tactile sensation, Facial palsy OMIM:182410
Perry Syndrome
Parkinsonism, Abnormality of extrapyramidal motor function, Tremor, Central hypoventilation ORPHA:178509
Supranuclear Palsy, Progressive, 2
Falls, Postural tremor, Gait imbalance, Akinesia, Retrocollis, Axial dystonia, Rigidity, Parkinso... OMIM:609454
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... OMIM:255160
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Autosomal Agammaglobulinemia
Dehydration ORPHA:33110
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Myopathy ORPHA:166002
Myopathy With Lactic Acidosis, Hereditary
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Rhabdomyolysis, Myopathy... OMIM:255125
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Dehydration OMIM:251110
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Tachypnea ORPHA:217563
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Seizure ORPHA:89844
Triosephosphate Isomerase Deficiency
Spasticity, Respiratory distress, Oligohydramnios, Tremor, Dystonia, Unsteady gait OMIM:615512
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Skeletal muscle atrophy, Myopathy, Abnormal muscle glycogen content, Flexion contracture, Abnorma... ORPHA:367
Multiple Pterygium Syndrome, Lethal Type
Polyhydramnios, Akinesia, Edema OMIM:253290
Exercise-Induced Malignant Hyperthermia
Tachypnea, Seizure, Ataxia ORPHA:466650
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Myopathy, Weakness of facial musculature, Abnormal pyramidal sign, Ataxia, Flexion contracture OMIM:201470
Mogs-Cdg
Generalized edema, Seizure, Respiratory distress, Apnea, Hypoventilation, Pulmonary edema, Polyhy... ORPHA:79330
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Vocal cord paralysis ORPHA:142
Congenital Tricuspid Valve Dysplasia
Pericardial effusion, Tachypnea ORPHA:555874
Angelman Syndrome
Ataxia, Optic atrophy, Broad-based gait, Cerebral cortical atrophy, Seizure, Inability to walk, I... ORPHA:72
Neuromuscular Oculoauditory Syndrome
Sensory axonal neuropathy, Infantile spasms, Peripheral hypomyelination, Bilateral tonic-clonic s... OMIM:618733
Axial Osteomalacia
Myopathy OMIM:109130
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Seizure ORPHA:464453
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Polyhydramnios ORPHA:2759
Neuroblastoma
Respiratory distress, Antalgic gait, Myoclonus, Ataxia ORPHA:635
Sialidosis Type 1
Seizure, Myoclonus, Tremor, Gait disturbance, Ataxia, Slurred speech ORPHA:812
Congenital Short Bowel Syndrome
Dehydration OMIM:615237
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration OMIM:602199
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Dehydration OMIM:264350
Cockayne Syndrome A
Optic atrophy, Cerebellar atrophy, Seizure, Cerebral atrophy, Peripheral dysmyelination, Tremor, ... OMIM:216400
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Pain insensitivity, Broad-based gait, Painless fractures due to injury, Seizure, Respiratory dist... OMIM:256810
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Mcleod Syndrome
Dystonia, Chorea, Rhabdomyolysis, Myopathy OMIM:300842
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl... OMIM:619542
Joubert Syndrome With Ocular Defect
Seizure, Abnormal pattern of respiration, Apnea, Tremor, Oculomotor apraxia, Gait disturbance, At... ORPHA:220493
Complete Atrioventricular Septal Defect
Tachypnea, Intercostal retractions ORPHA:1329
Harlequin Ichthyosis
Dehydration ORPHA:457
Typhoid
Lethargy, Tremor, Hypertonia, Ataxia ORPHA:99745
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Scapular winging, Flexion contracture, Facial palsy, ... OMIM:255200
Myopathy, Myofibrillar, 1
Facial palsy, EMG: myopathic abnormalities OMIM:601419
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Seizure, Gait imbalance, Myoclonus, Tremor, Ataxia, Delayed myelination ORPHA:98794
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Limb dystonia, Myopathy OMIM:604377
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Dehydration OMIM:620126
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress OMIM:245590
Congenital Myopathy 12
Polyhydramnios, Akinesia OMIM:612540
Sandifer Syndrome
Abnormal posturing, Torticollis ORPHA:71272
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Dehydration OMIM:620125
Severe Acute Respiratory Syndrome
Respiratory distress, Dyspnea ORPHA:140896
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Tachypnea OMIM:615751
Corticosterone Methyloxidase Type I Deficiency
Dehydration OMIM:203400
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Bradykinesia, Resting tremor, Rigidity OMIM:614251
Rajab Interstitial Lung Disease With Brain Calcifications 1
Anasarca, Seizure, Ascites, Oligohydramnios, Tachypnea OMIM:613658
Corticosterone Methyloxidase Type Ii Deficiency
Dehydration OMIM:610600
Fetal Akinesia Deformation Sequence
Polyhydramnios, Akinesia ORPHA:994
Lamellar Ichthyosis
Dehydration ORPHA:313
Pulmonary Alveolar Microlithiasis
Dyspnea, Tachypnea, Peripheral edema, Exertional dyspnea ORPHA:60025
Amyotrophic Lateral Sclerosis
Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Neurodegeneration, Babinski sign, Para... ORPHA:803
Familial Nasal Acilia
Respiratory distress, Dyspnea ORPHA:922
Dend Syndrome
Dehydration, Seizure ORPHA:79134
Chitayat Syndrome
Respiratory distress, Polyhydramnios OMIM:617180
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Oligohydramnios, Dehydration OMIM:208085
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:85329
Congenital Disorder Of Deglycosylation 1
Pain insensitivity, Involuntary movements, Myoclonic seizure, Seizure, Respiratory distress, Chor... OMIM:615273
Dpagt1-Cdg
Anasarca, Seizure, Inability to walk, Epileptic spasm, Akinesia, Tremor, Hypertonia, Ataxia, Foca... ORPHA:86309
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Somatic sensory dysfunction, Difficulty walking, Dysmetria, Tremor, Cerebellar hypoplasia, Optic ... ORPHA:502423
Glucose/Galactose Malabsorption
Hypertonic dehydration OMIM:606824
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Farber Disease
Spasticity, Seizure, Respiratory distress, Ascites, Infantile spasms, Myoclonus, Joint swelling, ... ORPHA:333
Dopamine Beta-Hydroxylase Deficiency
Dyspnea, Dehydration ORPHA:230
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Seizure, Incoordination, Tremor, Abnormal pyramidal sign, Ataxia, Optic disc pallo... OMIM:614947
Chediak-Higashi Syndrome
Seizure, Neurodegeneration, Tremor, Gait disturbance, Ataxia OMIM:214500
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Generalized clonic seizure, Polyhydramnios, Generalized myoclonic seizure ORPHA:329178
Leigh Syndrome
Spasticity, Involuntary movements, Skeletal muscle atrophy, Chorea, Multiple joint contractures, ... ORPHA:506
Inhalational Anthrax
Respiratory distress, Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gas... ORPHA:247257
Craniofaciofrontodigital Syndrome
Lower eyelid edema, Seizure, Respiratory distress, Polyhydramnios, Hemiparesis, Dyspnea, Pericard... ORPHA:363705
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration OMIM:177735
Cockayne Syndrome B
Optic atrophy, Seizure, Cerebral atrophy, Peripheral dysmyelination, Tremor, Ataxia, Cerebellar c... OMIM:133540
Asparagine Synthetase Deficiency
Cerebellar vermis hypoplasia, Global brain atrophy, Hypoplasia of the pons, Seizure, Dilated four... OMIM:615574
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculogyric crisis, Seizure, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent fa... OMIM:612716
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Generalized limb muscle atrophy, Fasciculations, Hand muscle weakness, Shoulder ... ORPHA:98908
Early-Onset Familial Hypoaldosteronism
Dehydration ORPHA:556030
Neuroleptic Malignant Syndrome
Oculogyric crisis, Extrapyramidal muscular rigidity, Chorea, Tremor, Dehydration ORPHA:94093
Tyrosinemia Type 2
Tremor, Seizure, Ataxia ORPHA:28378
Insulinoma
Neuroendocrine neoplasm, Seizure, Paresthesia, Tremor, Lethargy, Abnormality of pain sensation ORPHA:97279
Den Hoed-De Boer-Voisin Syndrome
Spasticity, Global brain atrophy, Focal myoclonic seizure, Seizure, Generalized non-motor (absenc... OMIM:619229
Myotonic Dystrophy 1
Respiratory distress, Polyhydramnios OMIM:160900
Tularemia
Respiratory distress, Pleural effusion ORPHA:3392
Combined Oxidative Phosphorylation Deficiency 11
Tongue fasciculations, Myoclonus, Myopathy OMIM:614922
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Hand muscle weakness, Type 1 muscle fiber predominance, Myopathy, Type 2... ORPHA:98915
Secondary Short Bowel Syndrome
Dehydration ORPHA:95427
Smooth Muscle Dysfunction Syndrome
Tachypnea OMIM:613834
Colchicine Poisoning
Respiratory distress, Dehydration ORPHA:31824
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Seizure, Respiratory distress, Apnea, Myoclonus, Hyperkinetic movements, Dystonia, Hypertonia, Un... ORPHA:17
Generalized Pseudohypoaldosteronism Type 1
Dehydration ORPHA:171876
Aortic Arch Interruption
Respiratory distress, Tachypnea, Exertional dyspnea, Pedal edema ORPHA:2299
Oculogastrointestinal Muscular Dystrophy
Skeletal muscle atrophy, Myopathy ORPHA:1876
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Hypertonia, Exertional dyspnea, Tremor OMIM:250800
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Proximal spinal muscular atrophy, Abnormal muscle fiber dysferlin,... ORPHA:1320
Neutral Lipid Storage Disease With Ichthyosis
Shoulder girdle muscle weakness, Myopathy, Increased intramyocellular lipid droplets, Ataxia, EMG... ORPHA:98907
Congenital Disorder Of Glycosylation, Type Ij
Seizure, Apnea, Infantile spasms, Tremor, Hypertonia OMIM:608093
Lujo Hemorrhagic Fever
Facial edema, Generalized edema, Resting tremor, Seizure, Respiratory distress, Bilateral tonic-c... ORPHA:319213
Kniest Dysplasia
Respiratory distress, Gait disturbance OMIM:156550
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Ascites, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Frequ... OMIM:620369
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Dehydration OMIM:615453
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypertonic dehydration, Seizure OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypertonic dehydration, Seizure OMIM:304800
Malignant Hyperthermia Of Anesthesia
Tachypnea ORPHA:423
Pparg-Related Familial Partial Lipodystrophy
Abnormality of skeletal muscle fiber size, Calf muscle pseudohypertrophy, Myopathy, Skeletal musc... ORPHA:79083
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Pares... ORPHA:298
Familial Isolated Hypoparathyroidism
Myopathy ORPHA:2238
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Limb-girdle muscle weakness, Limb muscle weakness, Myopathy, Skeletal muscle atrophy OMIM:112250
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Broad-based gait, Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers ORPHA:477817
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Generalized edema OMIM:271225
Congenital Enterovirus Infection
Fetal ascites, Respiratory distress, Pleural effusion, Polyhydramnios, Hydrops fetalis, Pericardi... ORPHA:292
Odontochondrodysplasia
Respiratory distress ORPHA:166272
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Limb hypertonia, Focal impaired awareness seizure, Seizure OMIM:620306
Thyroid Lymphoma
Respiratory distress, Dyspnea ORPHA:97285
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Upper limb muscle weakness, Decreased muscle glycogen content, Decreased muscle mass, Shoulder gi... ORPHA:263297
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy ORPHA:2348
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... ORPHA:169189
Pearson Syndrome
Seizure, Corneal stromal edema, Ataxia, Hydrops fetalis, Dehydration ORPHA:699
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy OMIM:300219
Agnathia-Otocephaly Complex
Respiratory distress, Polyhydramnios OMIM:202650
Adrenal Hypoplasia, Congenital
Dehydration OMIM:300200
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea, Bilateral tonic-clonic seizure ORPHA:2751
Congenital Bile Acid Synthesis Defect Type 4
Tremor, Seizure, Ataxia ORPHA:79095
Congenital Tufting Enteropathy
Dehydration ORPHA:92050
Metachromatic Leukodystrophy
Tip-toe gait, Seizure, Incoordination, Tremor, Dystonia, Gait disturbance, Ataxia, Decerebrate ri... ORPHA:512
Congenital Diaphragmatic Hernia
Respiratory distress ORPHA:2140
Xp21 Deletion Syndrome
Spasticity, Myopathy, Calf muscle hypertrophy, Decreased muscle mass ORPHA:261476
Arthrogryposis Multiplex Congenita 5
Hand tremor, Akinesia, Hypertonia, Polyhydramnios, Dystonia OMIM:618947
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Involuntary movements, Incoordination, Abnormality of extrapyramidal motor function, Babinski sig... ORPHA:480864
Paramyotonia Congenita Of Von Eulenburg
EMG: myopathic abnormalities, Periodic hypokalemic paresis, Facial muscle hypertrophy ORPHA:684
Adrenomyodystrophy
Myopathy ORPHA:977
Oculopharyngodistal Myopathy 1
Respiratory distress, Difficulty walking, Tremor, Ataxia OMIM:164310
Glycogen Storage Disease Of Heart, Lethal Congenital
Anasarca, Seizure, Respiratory distress, Ascites, Apnea, Pleural effusion, Peripheral edema, Pulm... OMIM:261740
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Chylomicron Retention Disease
EMG: myopathic abnormalities, Myopathy ORPHA:71
Hypoglossia With Situs Inversus
Respiratory distress OMIM:612776
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Ascites, Pulmonary edema, Dyspnea, Pericardial effusion OMIM:115197
Congenital Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonic seizure, Seizure, Apnea, Status epilepticus ORPHA:168486
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Myopathy ORPHA:257
Joubert Syndrome With Hepatic Defect
Seizure, Abnormal pattern of respiration, Apnea, Tremor, Oculomotor apraxia, Gait disturbance, At... ORPHA:1454
Glucose-Galactose Malabsorption
Dehydration ORPHA:35710
Cryptogenic Organizing Pneumonia
Respiratory distress, Dyspnea ORPHA:1302
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Painless fractures due to injury, Decreased number of peripheral myelinated nerve fibers OMIM:201300
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Young-Onset Parkinson Disease
Spasticity, Gait imbalance, Tremor, Rigidity, Dystonia, Bradykinesia ORPHA:2828
Oligomeganephronia
Dehydration, Seizure ORPHA:2260
Severe Generalized Junctional Epidermolysis Bullosa
Edema, Seizure, Respiratory distress, Dyspnea, Dehydration ORPHA:79404
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Ragged-red muscle fibers, Left ventricular hypertrophy, Achilles tendon ... OMIM:615418
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration OMIM:143860
Nasolacrimal Duct Cyst
Periorbital edema, Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress ORPHA:141083
Carcinoid Syndrome
Myopathy ORPHA:100093
Autosomal Dominant Optic Atrophy And Cataract
Optic atrophy, Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Extrapyramidal mu... ORPHA:67036
Lethal Congenital Contracture Syndrome 9
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... OMIM:616503
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Parkinsonism, Limb muscle weakness, Ragged-red muscle fibers OMIM:609286
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Dehydration OMIM:214700
Microvillus Inclusion Disease
Dehydration ORPHA:2290
Slc35A1-Cdg
Respiratory distress ORPHA:238459
Ataxia-Telangiectasia
Seizure, Inability to walk, Myoclonus, Intention tremor, Tremor, Ataxia, Dystonia, Slurred speech... OMIM:208900
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Rhabdomyolysis, Myopathy ORPHA:228305
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Focal impaired awareness seizure, Seizure OMIM:616482
Hyperlysinemia
Poor motor coordination, Tip-toe gait, Seizure, Dysmetria, Tremor, Neck hypertonia, Opisthotonus,... ORPHA:2203
Shigellosis
Dehydration, Febrile seizure (within the age range of 3 months to 6 years) ORPHA:810
Acyl-Coa Dehydrogenase 9 Deficiency
EMG: myopathic abnormalities, Myopathy ORPHA:99901
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Polyhydramnios ORPHA:990
Odontochondrodysplasia 1
Respiratory distress OMIM:184260
Usher Syndrome
Vestibular areflexia, Myopathy, Ataxia ORPHA:886
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Polyhydramnios, Edema OMIM:607143
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Hypertonia, Tremor, Rigidity OMIM:176500
Listeriosis
Somatic sensory dysfunction, Seizure, Respiratory distress, Myoclonus, Tremor, Hemiparesis, Ataxia ORPHA:533
Xanthinuria, Type I
Myopathy OMIM:278300
Diaphanospondylodysostosis
Respiratory distress, Oligohydramnios, Increased nuchal translucency OMIM:608022
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Optic atrophy, Spasticity, Seizure, Leukodystrophy, Hemiplegia, Tremor, Abnormality of extrapyram... OMIM:612199
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Dehydration ORPHA:90791
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Inability to walk OMIM:617303
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Waddling gait OMIM:183900
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress ORPHA:226313
Mitochondrial Trifunctional Protein Deficiency
Lower limb muscle weakness, Rhabdomyolysis, Skeletal myopathy, Babinski sign, Left ventricular hy... ORPHA:746
Ciliary Dyskinesia, Primary, 2
Respiratory distress OMIM:606763
Osteootohepatoenteric Syndrome
Dehydration OMIM:619377
Mitochondrial Trifunctional Protein Deficiency 1
Rhabdomyolysis, Myopathy OMIM:609015
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Oligohydramnios, Dehydration OMIM:263200
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
Double Outlet Left Ventricle
Tachypnea ORPHA:3427
African Trypanosomiasis
Involuntary movements, Somatic sensory dysfunction, Seizure, Fasciculations, Difficulty walking, ... ORPHA:3385
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Tremor OMIM:274150
Carey-Fineman-Ziter Syndrome
Aplasia of the pectoralis major muscle, Facial palsy, Skeletal muscle atrophy, Myopathy ORPHA:1358
Carey-Fineman-Ziter Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Pectoralis hypoplasia, Myopathy, Weakness... OMIM:254940
Renal Hypoplasia
Dehydration ORPHA:93101
Pseudoachondroplasia
Skeletal myopathy ORPHA:750
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea ORPHA:2707
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Myopathy OMIM:617713
Tetrasomy 5P
Respiratory distress, Seizure ORPHA:3309
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress OMIM:617895
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Seizure ORPHA:2519
Meconium Aspiration Syndrome
Respiratory distress ORPHA:70588
Immunodeficiency 10
Myopathy OMIM:612783
Combined Oxidative Phosphorylation Deficiency 3
Seizure, Tremor, Bilateral tonic-clonic seizure, Ataxia, Dyspnea, Dystonia OMIM:610505
Oculocerebrorenal Syndrome Of Lowe
Dehydration, Clonus, Joint swelling, Seizure ORPHA:534
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Polyhydramnios OMIM:151210
Scleromyxedema
Abnormal skeletal muscle morphology, Myopathy ORPHA:167635
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Seizure OMIM:610536
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Cerebellar vermis hypoplasia, Spasticity, Myoclonic seizure, Hypoplasia of the pons, Seizure, Gen... OMIM:620455
Immunodeficiency 9
Myopathy OMIM:612782
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Elbow flexion contracture, EMG: myopathic abnormalities, Knee flexion contracture, Hip contractur... ORPHA:371364
Melas
Abnormal central motor function, Myoclonus, Ragged-red muscle fibers, Myopathy, Hemiparesis, Atax... ORPHA:550
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Dehydration, Seizure ORPHA:90038
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy, Tremor, Ataxia OMIM:201100
Bartter Syndrome, Type 1, Antenatal
Polyhydramnios, Paresthesia, Dehydration, Seizure OMIM:601678
Mgat2-Cdg
Respiratory distress, Infantile spasms, Hydrops fetalis, Seizure ORPHA:79329
Congenital Myopathy 21 With Early Respiratory Failure
EMG: myopathic abnormalities OMIM:620326
Distal Renal Tubular Acidosis
Paralysis, Dehydration ORPHA:18
Combined Oxidative Phosphorylation Deficiency 55
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy OMIM:619743
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Polyhydramnios, Seizure ORPHA:223
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Tick-Borne Encephalitis
Tongue fasciculations, Abnormal medulla oblongata morphology, Somatic sensory dysfunction, Genera... ORPHA:297
Radio-Renal Syndrome
Respiratory distress, Chylothorax, Dyspnea, Pleural effusion ORPHA:3015
Aicardi-Goutières Syndrome
Spasticity, Spastic paraparesis, Degeneration of the striatum, Seizure, Leukodystrophy, Difficult... ORPHA:51
Combined Immunodeficiency Due To Crac Channel Dysfunction
Myopathy ORPHA:169090
Neutral Lipid Storage Disease With Myopathy
Increased muscle lipid content, Myopathy, Fasciculations OMIM:610717
Paternal Uniparental Disomy Of Chromosome 6
Oligohydramnios, Generalized myoclonic seizure, Dehydration ORPHA:96191
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Joint swelling OMIM:612852
Bartter Syndrome, Type 2, Antenatal
Polyhydramnios, Paresthesia, Dehydration, Seizure OMIM:241200
Musculocontractural Ehlers-Danlos Syndrome
Myopathy, Arthrogryposis multiplex congenita, Decreased muscle mass ORPHA:2953
Netherton Syndrome
Hypernatremic dehydration, Angioedema OMIM:256500
Abetalipoproteinemia
Gait ataxia, Dysmetria, Myopathy, Distal lower limb muscle weakness, Babinski sign, Ataxia, Upper... ORPHA:14
Stormorken Syndrome
Myopathy OMIM:185070
Juvenile Nephropathic Cystinosis
Dehydration, Seizure ORPHA:411634
Mucopolysaccharidosis, Type Ii
Neurodegeneration, Papilledema, Seizure OMIM:309900
Pfeiffer Syndrome Type 2
Respiratory distress, Seizure ORPHA:93259
Cryptococcosis
Seizure, Respiratory distress, Pleural effusion, Dyspnea, Cerebral edema ORPHA:1546
Localized Scleroderma
Flexion contracture, Skeletal muscle atrophy, Myopathy ORPHA:90289
Pearson Marrow-Pancreas Syndrome
Hydrops fetalis, Dehydration OMIM:557000
Marburg Hemorrhagic Fever
Dehydration, Atypical absence status epilepticus, Dysesthesia, Seizure ORPHA:99826
Bartter Syndrome, Type 3
Dehydration OMIM:607364
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Skeletal muscle hypertrophy, Muscle hypertrophy of the lower extremities, Myopathy, Proximal uppe... ORPHA:280365
Pfeiffer Syndrome Type 3
Respiratory distress, Seizure ORPHA:93260
Sepsis In Premature Infants
Dyspnea, Nasal flaring, Edema, Seizure ORPHA:90051
Lysosomal Acid Lipase Deficiency
Ascites, Dehydration ORPHA:275761
Idiopathic Hypereosinophilic Syndrome
Somatic sensory dysfunction, Seizure, Angioedema, Respiratory distress, Paresthesia, Pleural effu... ORPHA:3260
Microsporidiosis
Dehydration, Seizure ORPHA:2552
Hereditary Xanthinuria
Myopathy ORPHA:3467
Bartter Syndrome Type 4
Polyhydramnios, Clumsiness, Dehydration ORPHA:89938
Schwartz-Jampel Syndrome
Blepharospasm, Skeletal muscle atrophy, Shoulder flexion contracture, Skeletal muscle hypertrophy... ORPHA:800
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Oligohydramnios, Seizure, Torticollis ORPHA:536467
Truncus Arteriosus
Pulmonary edema, Tachypnea ORPHA:3384
Sanjad-Sakati Syndrome
Myopathy ORPHA:2323
Congenital Myopathy 17
Distal arthrogryposis, Myopathy, Diaphragmatic eventration OMIM:618975
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress OMIM:612863
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Dehydration ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Dehydration ORPHA:289548
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Seizure OMIM:300968
Alpha-Mannosidosis, Infantile Form
Spastic paraplegia, Myopathy, Clumsiness, Ataxia, Facial hypotonia, Macroglossia ORPHA:309282
Vici Syndrome
Left ventricular hypertrophy, Abnormal posturing, Myopathy OMIM:242840
Achondroplasia
Respiratory distress, Polyhydramnios OMIM:100800
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Difficulty walking, Inability to walk, Exertional dyspnea, Orthopnea ORPHA:365
Carnitine Palmitoyltransferase Ii Deficiency
Rhabdomyolysis, Myopathy ORPHA:157
Infantile Nephropathic Cystinosis
Dehydration ORPHA:411629
Esophageal Atresia
Vocal cord paresis, Respiratory distress, Episodic respiratory distress, Hypertonia, Polyhydramnios ORPHA:1199
Rodrigues Blindness
Nasal flaring OMIM:268320
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress OMIM:231680
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Muscle fiber splitting, Myopathy OMIM:611881
Hereditary Amyloidosis With Primary Renal Involvement
Myopathy ORPHA:85450
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... ORPHA:466943
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Oligohydramnios, Seizure ORPHA:177907
Acquired Generalized Lipodystrophy
Calf muscle pseudohypertrophy, Myopathy ORPHA:79086
Choanal Atresia
Respiratory distress ORPHA:137914
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Inability to walk ORPHA:505248
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Polyhydramnios OMIM:618188
Vipoma
Ascites, Dehydration ORPHA:97282
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress ORPHA:1555
Hyperoxaluria, Primary, Type I
Dehydration OMIM:259900
Bohring-Opitz Syndrome
Dandy-Walker malformation, Seizure, Delayed peripheral myelination OMIM:605039
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia ORPHA:1578
Goodpasture Syndrome
Tachypnea, Exertional dyspnea OMIM:233450
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:109
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress OMIM:217980
Arboleda-Tham Syndrome
Seizure, Respiratory distress, Upper eyelid edema, Gait imbalance, Dystonia, Lower limb hypertonia OMIM:616268
Danon Disease
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Limb muscle weakness, Lower limb... OMIM:300257
Insensitivity To Pain, Congenital, With Anhidrosis
Pain insensitivity, Decreased number of small peripheral myelinated nerve fibers OMIM:256800
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Chylothorax OMIM:620278
Adnp Syndrome
Respiratory distress, Hypertonia, Seizure ORPHA:404448
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
3-Methylglutaconic Aciduria, Type Viii
Hypopnea, Seizure, Apnea, Tremor, Clonus, Hypertonia, Dystonia OMIM:617248
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Polyhydramnios, Ascites OMIM:617156
Hurler Syndrome
Abnormal CNS myelination, Neurodegeneration OMIM:607014
Multiple Endocrine Neoplasia Type 1
Atypical absence status epilepticus, Dehydration ORPHA:652
Ramos-Arroyo Syndrome
Respiratory distress, Xerostomia ORPHA:1051
Q Fever
Respiratory distress, Pericardial effusion, Pleural effusion ORPHA:781
Cystinosis, Nephropathic
Dehydration OMIM:219800
Stüve-Wiedemann Syndrome
Impaired pain sensation, Respiratory distress, Apnea, Paresthesia, Oligohydramnios ORPHA:3206
Oculoauriculovertebral Spectrum With Radial Defects
EMG: myopathic abnormalities ORPHA:2549
Gitelman Syndrome
Respiratory distress, Paresthesia, Paralysis, Pericardial effusion, Focal-onset seizure ORPHA:358
Wolfram Syndrome
Myopathy, Ataxia ORPHA:3463
Arterial Tortuosity Syndrome
Respiratory distress, Dyspnea ORPHA:3342
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Incoordination, Decreased number of large peripheral myelinated nerve fibers OMIM:223900
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Type 1 muscle fiber predominance, Skeletal muscle atrophy, Myopathy OMIM:614557
Stromme Syndrome
Myopathy OMIM:243605
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress OMIM:123790
Barth Syndrome
Skeletal myopathy OMIM:302060
Osteogenesis Imperfecta, Type X
Respiratory distress OMIM:613848
Rubinstein-Taybi Syndrome 1
Seizure, Respiratory distress, Incoordination, Unsteady gait, Polyhydramnios, Poor coordination OMIM:180849
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Tuberous Sclerosis Complex
Seizure, Respiratory distress, Epileptic spasm, Infantile spasms, Status epilepticus, Focal-onset... ORPHA:805
Coccidioidomycosis
Respiratory distress, Pleural empyema, Exudative pleural effusion, Seizure ORPHA:228123
Congenital Tracheal Stenosis
Fetal ascites, Respiratory distress, Oligohydramnios, Polyhydramnios, Dyspnea ORPHA:141127
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Elbow flexion contracture, Muscle fiber atrophy, Limb muscle weakness, EMG... ORPHA:1900
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Abnormality of the shoulder girdle musculature, Increased muscle lipid content, ... ORPHA:565612
Schinzel-Giedion Syndrome
Spasticity, Seizure, Respiratory distress, Epileptic spasm, Vocal cord paralysis, Hypertonia ORPHA:798
Cystic Fibrosis
Dehydration OMIM:219700
Nocardiosis
Respiratory distress, Dyspnea, Pleural effusion, Seizure ORPHA:31204
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress ORPHA:37042
Shwachman-Diamond Syndrome 1
Respiratory distress OMIM:260400
Primary Fanconi Renotubular Syndrome
Dehydration ORPHA:3337
Mucopolysaccharidosis, Type Vii
Neurodegeneration OMIM:253220
Proximal Renal Tubular Acidosis
Dehydration ORPHA:47159
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pulmonary edema, Dyspnea, Pleural effusion ORPHA:340
Campomelic Dysplasia
Respiratory distress, Apnea, Polyhydramnios, Seizure OMIM:114290
Multiple Endocrine Neoplasia, Type Iib
Myopathy OMIM:162300
Plague
Respiratory distress, Unsteady gait, Edema, Slurred speech ORPHA:707
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress ORPHA:308552
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Myopathy OMIM:612541
Congenital Alveolar Capillary Dysplasia
Respiratory distress ORPHA:210122
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Status epilepticus, Seizure ORPHA:2556
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Dehydration ORPHA:90794
Glycerol Kinase Deficiency
Muscular dystrophy, Myopathy OMIM:307030
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:536545
Meier-Gorlin Syndrome 1
Respiratory distress OMIM:224690
Toxic Epidermal Necrolysis
Respiratory distress ORPHA:537
Doors Syndrome
Respiratory distress, Myoclonus, Bilateral tonic-clonic seizure, Polyhydramnios, Focal impaired a... ORPHA:79500
Kasabach-Merritt Phenomenon
Respiratory distress, Hypopnea ORPHA:2330
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea ORPHA:2554
Osteoglophonic Dysplasia
Respiratory distress OMIM:166250
Williams Syndrome
Involuntary movements, Spasticity, Tremor, Dysmetria, Abnormality of extrapyramidal motor functio... ORPHA:904
Isolated Arrhinia
Respiratory distress ORPHA:1134
1P36 Deletion Syndrome
Myopathy, Hemiplegia/hemiparesis, Camptodactyly of finger ORPHA:1606
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress OMIM:305100
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Oligohydramnios, Seizure ORPHA:2255
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Polyhydramnios OMIM:306955
Eisenmenger Syndrome
Generalized edema, Respiratory distress, Ascites, Peripheral edema, Exertional dyspnea, Pedal edema ORPHA:97214
Microform Holoprosencephaly
EMG: myopathic abnormalities ORPHA:280200
8Q24.3 Microdeletion Syndrome
Respiratory distress, Oligohydramnios, Seizure ORPHA:508488
Congenital Tracheomalacia
Dyspnea, Apnea, Intercostal retractions ORPHA:95430
Scimitar Syndrome
Respiratory distress ORPHA:185
Generalized Arterial Calcification Of Infancy
Seizure, Respiratory distress, Ascites, Polyhydramnios, Hydrops fetalis, Pericardial effusion, Edema ORPHA:51608
Cleidocranial Dysplasia 1
Respiratory distress OMIM:119600
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, Difficulty walking, Seizure ORPHA:480880
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Flexion contracture, Hip contracture, Myopathy ORPHA:3042
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Polyhydramnios OMIM:617088
Nijmegen Breakage Syndrome
Neurodegeneration OMIM:251260
Dermatomyositis
Myositis, Limb-girdle muscle weakness, Inflammatory myopathy, EMG: myopathic abnormalities ORPHA:221
Pmm2-Cdg
Anasarca, Seizure, Lymphedema, Respiratory distress, Abnormality of coordination, Ataxia, Pericar... ORPHA:79318
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress ORPHA:83617
Primrose Syndrome
Neurodegeneration, Seizure, Ataxia OMIM:259050
Leptospirosis
Respiratory distress, Pleural effusion ORPHA:509
Ulbright-Hodes Syndrome
Respiratory distress, Oligohydramnios ORPHA:3404
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Xerostomia ORPHA:95455
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Waddling gait ORPHA:99646
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress OMIM:614748
Proteus Syndrome
Myofibrillar myopathy, Decreased muscle mass ORPHA:744
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Exertional dyspnea, Paroxysmal dyspnea, Apneic episodes in infancy ORPHA:99125
Alström Syndrome
Typical absence seizure, Somatic sensory dysfunction, Respiratory distress, Incoordination, Ataxi... ORPHA:64

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
Tpp1tm182377(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Tpp1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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