Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
tocopherol (alpha) transfer protein
Synonyms:
alpha TTP,  alpha-TTP

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Ttpa mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Ataxia, Retinal degeneration, Cerebellar atrophy, Babinski sign, Optic ... OMIM:614322
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Distal amyotrophy, Cerebellar vermis atrophy, Distal se... OMIM:617018
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Optic atrophy, Babinski sign OMIM:311050
Ceroid Lipofuscinosis, Neuronal, 2
Increased extraneuronal autofluorescent lipopigment, Cerebral atrophy, Ataxia, Retinal degenerati... OMIM:204500
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Torticollis, J... ORPHA:98807
Hydatidiform Mole, Recurrent, 4
Female infertility, Recurrent spontaneous abortion OMIM:618432
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Apraxia, Dystonia, Neurodegeneration, Ataxia, Cerebellar atrophy, Premature ovarian insuf... OMIM:615889
Autosomal Dominant Focal Dystonia, Dyt25 Type
Axial dystonia, Craniofacial dystonia, Lingual dystonia, Laryngeal dystonia, Torticollis, Focal d... ORPHA:329466
Ceroid Lipofuscinosis, Neuronal, 1
Generalized hypotonia, Hypotonia, Flexion contracture, Cerebral atrophy, Ataxia, Retinal degenera... OMIM:256730
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Dystonia, Leg muscle stiffness, Spastic ataxia, Limb ataxia, Hyperton... ORPHA:251282
Dystonia 30
Dystonia, Loss of ability to walk, Writer's cramp, Torticollis, Leg dystonia, Arm dystonia, Oroma... OMIM:619291
Spastic Paraplegia 11, Autosomal Recessive
Spastic paraplegia, Degeneration of the lateral corticospinal tracts, Knee clonus, Lower limb mus... OMIM:604360
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Developmental And Epileptic Encephalopathy 38
Dystonia, Generalized hypotonia, Hypertonia, Ataxia, Retinal dystrophy OMIM:617020
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Leg muscle stiffness, Diffuse cerebellar atrophy, Ataxia, Somatic... ORPHA:101010
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Dystonia, Ataxia, Muscular hypotonia of the trunk, Distal amyotrophy, Myoclo... OMIM:607317
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Flexion contracture, Ataxia, Babinski sign, Skeletal muscle atrophy, Spasticity OMIM:611105
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Clumsiness, Ataxia, Retinal degeneration, Cerebellar atrophy, Increased neuro... OMIM:256731
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Dystonia With Cerebellar Atrophy
Dystonia, Craniofacial dystonia, Progressive cerebellar ataxia, Torticollis, Cerebellar atrophy OMIM:611694
Neurodegeneration With Brain Iron Accumulation
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Cerebellar atrophy, Retinopathy, ... ORPHA:385
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Centrally nuc... ORPHA:401768
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Fatty replacement of skeletal muscl... ORPHA:602
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dystonia, Generalized hypotonia, Tetraparesis, Ataxia, Cerebellar atrophy, Ske... OMIM:618276
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Cerebral atrophy, Ataxia, Hypertriglycer... OMIM:615924
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Cerebral cortical atrophy, Tortico... OMIM:614860
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Gait disturbance, Type 1 muscle fiber predominance, ... OMIM:618655
Dystonia 4, Torsion, Autosomal Dominant
Torsion dystonia, Gait ataxia, Torticollis, Generalized dystonia, Limb dystonia OMIM:128101
Spinal Muscular Atrophy, Jokela Type
Tremor, Spinal muscular atrophy, Difficulty walking, Distal sensory impairment, Skeletal muscle a... OMIM:615048
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Apraxia, Incoordination, Spastic paraparesis, Dystonia, Cerebral atro... OMIM:615157
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Cogwheel rigidity, Gait ataxia, Incoordination, Dystonia, Pa... OMIM:128230
Amyotrophic Lateral Sclerosis 2, Juvenile
Dystonia, Upper limb spasticity, Spastic tetraparesis, Abnormal lower motor neuron morphology, Am... OMIM:205100
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Spastic paraparesis, Gait disturbance, Neurodegeneration, Toe walking, Bradykinesia, Di... OMIM:615643
Ceroid Lipofuscinosis, Neuronal, 10
Retinal atrophy, Cerebral atrophy, Ataxia, Cerebellar atrophy, Increased neuronal autofluorescent... OMIM:610127
Ceroid Lipofuscinosis, Neuronal, 7
Pigmentary retinopathy, Cerebral atrophy, Neurodegeneration, Ataxia, Cerebellar atrophy, Optic at... OMIM:610951
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Generalized hypotonia, Ataxia, Hypotonia OMIM:213000
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Dystonia, Hypomimic face, Cerebral atrophy, Bradykinesia, Ankle clonus, Infantile axial h... ORPHA:521406
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Upper limb muscle weakness, Impaired vibratory sensation, Ragged-red muscle fibers, Lower limb mu... OMIM:616924
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Chorea, Gait disturbance, Ataxia, Craniofacial dystonia, Myoclonus, Involuntary movemen... OMIM:617282
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, EMG: myopathic abnormalities, Tremor, Intrinsic hand muscle atrophy, Ragged-re... ORPHA:276435
Dystonia 25
Lingual dystonia, Laryngeal dystonia, Torticollis, Limb dystonia OMIM:615073
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Internally nucleated skeletal muscle fibers, Gait disturbance, Musc... ORPHA:178464
Hypermanganesemia With Dystonia 2
Tremor, Dystonia, Gait disturbance, Flexion contracture, Cerebral atrophy, Bradykinesia, Ankle cl... OMIM:617013
Dystonia 6, Torsion
Torsion dystonia, Writer's cramp, Laryngeal dystonia, Torticollis, Lingual dystonia, Myoclonus, L... OMIM:602629
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Increased intramyocellular lipid droplets, Spastic diplegia, Ataxia, Myoclonus, Babinsk... OMIM:619065
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Li... ORPHA:464440
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Achilles tendon contracture, Cerebellar atrophy, Adductor longu... OMIM:210000
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paresis, Difficulty walking, Distal amyotrophy, Vocal cord paralysis OMIM:158580
Spinocerebellar Ataxia Type 2
Postural tremor, Kinetic tremor, Gait ataxia, Dystonia, Generalized hypotonia, Cerebellar Purkinj... ORPHA:98756
Striatonigral Degeneration, Infantile, Mitochondrial
Generalized hypotonia, Difficulty walking, Ragged-red muscle fibers, Babinski sign, Frequent fall... OMIM:500003
Atypical Pantothenate Kinase-Associated Neurodegeneration
Retinopathy, Tremor, Clumsiness, Chorea, Gait disturbance, Abnormal pyramidal sign, Oromandibular... ORPHA:216873
Spastic Paraplegia, Ataxia, And Mental Retardation
Spastic paraplegia, Dystonia, Knee clonus, Lower limb muscle weakness, Ataxia, Ankle clonus, Lowe... OMIM:607565
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Facial myokymia, Action tremor, Progressive cere... OMIM:604326
Spastic Ataxia 1, Autosomal Dominant
Spastic paraplegia, Dystonia, Leg muscle stiffness, Spastic ataxia, Gait disturbance OMIM:108600
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Tremor, Hand muscle weakness, Intrinsic hand muscle atrophy, Spastic parapares... ORPHA:101077
Spastic Paraplegia 35, Autosomal Recessive
Spastic paraplegia, Dystonia, Spastic paraparesis, Difficulty walking, Spastic tetraparesis, Neur... OMIM:612319
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Dystonia, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Familial Infantile Bilateral Striatal Necrosis
Cogwheel rigidity, Gait ataxia, Dystonia, Rigidity, Upper limb muscle weakness, Atrophy/Degenerat... ORPHA:225154
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Difficulty walking, Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness ... OMIM:601954
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Generalized hypotonia, Weakness of orbicularis oculi muscle, Proxim... OMIM:500002
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Paroxysmal Non-Kinesigenic Dyskinesia
Dystonia, Rigidity, Chorea, Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, Involunta... ORPHA:98810
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Postural tremor, Dystonia, Generalized hypotonia, Chorea, Slurred speech, Gai... ORPHA:98755
Developmental And Epileptic Encephalopathy 28
Cerebral atrophy, Muscular hypotonia of the trunk, Retinal degeneration, Optic atrophy, Rigidity,... OMIM:616211
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Cerebellar atrophy, Babinski sign, Dysmetria... OMIM:607458
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Cerebellar atrophy, Spasticity ORPHA:217012
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Abnormal lower motor neuron mo... ORPHA:95434
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Clumsiness, Peroneal muscle atrophy, Increased muscle lipid content... ORPHA:609
Nemaline Myopathy 2
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Neonatal hypotonia, Waddling ga... OMIM:256030
Spastic Paraplegia 2, X-Linked
Spastic paraplegia, Degeneration of the lateral corticospinal tracts, Spastic paraparesis, Spinoc... OMIM:312920
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Generalized hypotonia, Ataxia, Cerebral cortical atrophy, Cerebellar atrophy, Stereotypy,... OMIM:617862
Primary Dystonia, Dyt17 Type
Torticollis, Generalized dystonia, Craniofacial dystonia ORPHA:370103
Spinocerebellar Ataxia Type 17
Dystonia, Generalized cerebral atrophy/hypoplasia, Cerebellar Purkinje layer atrophy, Chorea, Gai... ORPHA:98759
Dyschromatosis Symmetrica Hereditaria
Macular hypopigmentation, Macular hyperpigmentation, Torsion dystonia ORPHA:41
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Pigmentary retinopathy, Hypergonadotropic hypogonadism, Ataxia, Spasticity OMIM:614307
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction, Cerebellar atrophy ORPHA:423296
Autosomal Recessive Spastic Paraplegia Type 56
Spastic paraplegia, Dystonia, Toe walking, Spastic gait, Unsteady gait, Babinski sign ORPHA:320411
Spinocerebellar Ataxia 7
Tremor, Pigmentary retinopathy, Abnormality of extrapyramidal motor function, Chorea, Progressive... OMIM:164500
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Developmental And Epileptic Encephalopathy 69
Inability to walk, Dystonia, Arthrogryposis multiplex congenita, Corpus callosum atrophy, Hyperki... OMIM:618285
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Tremor, Abnormality of retinal pigmentation, Dystonia, Hypertonia, Abnormal p... ORPHA:96
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Falls, Muscle fiber necrosis, Calf muscle hypertrophy, F... OMIM:618848
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Gait disturbance, Babinski sign, Diffuse cerebral atrophy OMIM:300660
Boucher-Neuhauser Syndrome
Gait ataxia, Spinocerebellar atrophy, Ataxia, Retinal dystrophy, Abnormal upper motor neuron morp... OMIM:215470
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Dystonia, Tremor, Difficulty walking, Oculogyric crisis, Cerebellar atrophy, S... ORPHA:330050
Spinocerebellar Ataxia Type 28
Kinetic tremor, Gait ataxia, Dystonia, Head tremor, Limb ataxia, Parkinsonism, Babinski sign, Lim... ORPHA:101109
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Dystonia, Increased intramyocellular lipid droplets, Spastic paraparesis, Spa... OMIM:614487
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Cerebellar atrophy, Distal amyotrophy, Dysm... OMIM:611302
Spinocerebellar Ataxia 37
Tremor, Ataxia, Cerebellar atrophy, Unsteady gait, Frequent falls OMIM:615945
Huntington Disease-Like 2
Dystonia, Chorea, Gait disturbance, Cerebral cortical atrophy, Parkinsonism, Involuntary movement... ORPHA:98934
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Hypomimic face, Leg muscle stiffness, Abnorma... ORPHA:391411
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Gait disturbance, Spasticity, Ataxia, Abnormal amplitude of pattern reversal visual evoked potent... OMIM:125250
Neuroectodermal Melanolysosomal Disease
Tremor, Hypotonia, Cerebral cortical hemiatrophy, Hypertonia, Macular dystrophy, Ataxia, Abnormal... ORPHA:33445
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal amyotrophy, Skeletal muscle atrophy OMIM:614369
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Spastic Paraplegia 79, Autosomal Recessive
Spastic paraplegia, Flexion contracture, Tetraparesis, Head titubation, Ankle clonus, Ataxia, Cer... OMIM:615491
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Distal amyotrophy, Dysmetria, Distal sensory imp... OMIM:618387
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Dystonia, Generalized hypotonia, Hypotonia, Cerebral atrophy, Ataxia, Retinal ... OMIM:616756
Striatonigral Degeneration, Infantile
Dystonia, Optic atrophy, Choreoathetosis, Spasticity OMIM:271930
Striatonigral Degeneration, Childhood-Onset
Dystonia, Hypertonia, Loss of ability to walk, Craniofacial dystonia, Unsteady gait OMIM:617054
X-Linked Progressive Cerebellar Ataxia
Dysdiadochokinesis, Clumsiness, Spinocerebellar tract degeneration, Progressive gait ataxia, Limb... ORPHA:1175
Leukodystrophy, Hypomyelinating, 2
Dystonia, Spastic paraparesis, Rigidity, Cerebral atrophy, Head titubation, Ataxia, Muscular hypo... OMIM:608804
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Dystonia, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Hand muscle weakness, Hand tremor, Difficulty walking, Paraparesis, Gait ... OMIM:302800
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Gait ataxia, Apraxia, Chorea, Limb ataxia, Ataxia, Bradykinesia,... OMIM:607136
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Cerebellar atrophy, Upper limb postural tremor, ... ORPHA:98769
Developmental And Epileptic Encephalopathy 16
Dystonia, Generalized hypotonia, Abnormality of extrapyramidal motor function, Cerebral atrophy, ... OMIM:615338
Ceroid Lipofuscinosis, Neuronal, 3
Increased extraneuronal autofluorescent lipopigment, Abnormality of extrapyramidal motor function... OMIM:204200
Distal Myopathy, Welander Type
EMG: myopathic abnormalities, Foot dorsiflexor weakness, Clumsiness, Intrinsic hand muscle atroph... ORPHA:603
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Inability to walk, EMG: myopathic abnormalities, Facial hypotonia, Increased endomysial connectiv... ORPHA:266
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Dystonia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Cerebral atr... OMIM:300894
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Generalized hypotonia, Hypomimic face, Resting tremor, Bradykinesia, Craniofacial dy... ORPHA:71517
X-Linked Neurodegenerative Syndrome, Bertini Type
Generalized hypotonia, Macular degeneration, Ataxia ORPHA:85334
Autosomal Dominant Spastic Paraplegia Type 19
Degeneration of the lateral corticospinal tracts, Difficulty walking, Limb ataxia, Spinal cord le... ORPHA:100999
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Diffuse cerebellar... ORPHA:363710
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Positive Romberg sign, EMG: myopathic abnormalities, Gait ataxia, Steppage gait, Limb ataxia, Bra... OMIM:258450
Combined Oxidative Phosphorylation Deficiency 39
Dystonia, Arthrogryposis multiplex congenita, Flexion contracture, Involuntary movements, Spasticity OMIM:618397
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hand muscle weakness, Poor fine motor coordination, Triceps weakness, Distal lower limb amyotroph... ORPHA:99947
Severe X-Linked Mitochondrial Encephalomyopathy
Generalized hypotonia, Severe muscular hypotonia, Skeletal muscle atrophy, Involuntary movements,... ORPHA:238329
Juvenile Amyotrophic Lateral Sclerosis
Dystonia, Axial dystonia, Hypertonia, Spastic diplegia, Head titubation, Toe walking, Skeletal mu... ORPHA:300605
Progressive Myoclonic Epilepsy With Dystonia
Hemiplegia, Dystonia, Diffuse cerebellar atrophy, Abnormality of extrapyramidal motor function, A... ORPHA:352596
Alternating Hemiplegia Of Childhood 2
Hemiplegia, Dystonia, Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis OMIM:614820
Dystonia 17, Torsion, Autosomal Recessive
Torticollis, Focal dystonia OMIM:612406
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Generalized hypotonia, Increased intramyocellular lipid droplets, Abnormal pyramidal sign... OMIM:612016
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Speech apraxia, Impaired proprioception, Rigidity, Postural tremor, Corpus callosum atrophy, Head... ORPHA:412057
Distal Myopathy, Tateyama Type
Hypercholesterolemia, EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Clu... ORPHA:488650
Juvenile Primary Lateral Sclerosis
Spastic tetraparesis, Abnormal pyramidal sign, Abnormal upper motor neuron morphology, Spastic ga... ORPHA:247604
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Generalized hypotonia, Corpus callosum atrophy, Cerebral atrophy, Ataxia, Cerebellar at... OMIM:618088
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Hypertonia, Poor fine motor coordination, Progressive inability to walk, Upper motor ... ORPHA:137898
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle atrophy, Dystonia, Scapular winging, Temporal cortical atrophy, Frontal co... OMIM:167320
Spinocerebellar Ataxia 28
Dystonia, Gait ataxia, Limb ataxia, Hypertonia, Cerebellar atrophy, Parkinsonism, Babinski sign, ... OMIM:610246
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Generalized hypotonia, Limb ataxia, Somatic sensory dysfunction, Progressive... ORPHA:98763
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dystonia, Increased intramyocellular lipid droplets, Pigmentary retinopathy, Neonatal hypotonia, ... OMIM:252011
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Unsteady gait, Cerebellar atrophy, Babinski si... OMIM:615768
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Dystonia, Hyperkinetic movements, Cerebral atrophy, Myoclonus, Choreoathetosis... OMIM:618497
Asherman Syndrome
Infertility, Decreased fertility in females, Abnormality of the menstrual cycle, Oligomenorrhea, ... ORPHA:137686
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Episodic ataxia, Gait ataxia, Truncal ataxia, Incoordination, Dystonia, Hemiparesis, Episodic gen... OMIM:601338
Mitochondrial Complex I Deficiency, Nuclear Type 17
Dystonia, Generalized hypotonia, Gait disturbance, Ataxia, Skeletal muscle atrophy, Rigidity OMIM:618239
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Paresthesia, Chorea, Paroxysmal dyskinesia, Ataxia, Lower limb spasti... ORPHA:98811
Macular Degeneration, Age-Related, 13
Macular scar, Drusen, Macular degeneration, Choroidal neovascularization OMIM:615439
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Dystonia, Gait ataxia, Spastic ataxia, Progressive cerebellar ataxia, Cerebral cortical atrophy, ... ORPHA:314603
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Chorea, Paroxysmal dyskinesia, Dystonia OMIM:611031
Spastic Paraplegia 15, Autosomal Recessive
Spastic paraplegia, Lower limb muscle weakness, Ataxia, Retinal degeneration, Spastic gait, Lower... OMIM:270700
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Abnormal pyramidal sign, Cerebral... OMIM:617672
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Generalized hypotonia, Abnormality of coordination, Difficulty walking, Cerebral atrophy,... ORPHA:442835
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Dystonia, Clumsiness, Chorea, Poor fine motor coordination, Cerebral atrophy, Ataxia, Bra... ORPHA:79263
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Retinal degeneration, Ataxia, Spasticity OMIM:225755
Myopathy With Extrapyramidal Signs
Tremor, Dystonia, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxi... OMIM:615673
Spinocerebellar Ataxia 14
Gait ataxia, Impaired vibration sensation at ankles, Facial myokymia, Progressive cerebellar atax... OMIM:605361
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis OMIM:118800
Leukodystrophy, Hypomyelinating, 16
Dystonia, Gait ataxia, Generalized hypotonia, Hypertonia, Abnormal pyramidal sign, Dysmetria, Int... OMIM:617964
Diaminopentanuria
Neurodegeneration, Ataxia, Spasticity OMIM:222350
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Tremor, Gait ataxia, Truncal ataxia, Dystonia, Axonal degeneration, Limb at... OMIM:208920
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Truncal ataxia, Leg muscle stiffness, Progressive gait ataxia, Limb ataxia, Slurred speech, Ankle... ORPHA:284289
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Myoclonus, Dystonia OMIM:611092
Spastic Paraparesis And Deafness
Hypogonadism, Tremor, Spastic paraparesis OMIM:312910
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Lower limb muscle weakness, Abnormal lower motor neuron morphology, Hand mu... OMIM:607641
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Spinocerebellar tract degeneration, Steppage gait, Global brain atrophy, Pa... ORPHA:94124
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Gait ataxia, Truncal ataxia, Clumsiness, Slurred speech, Oculomotor apraxia, Unsteady g... ORPHA:453521
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Cerebellar at... ORPHA:248111
Leukodystrophy, Hypomyelinating, 6
Tremor, Dystonia, Rigidity, Ataxia, Muscular hypotonia of the trunk, Cerebellar atrophy, Optic at... OMIM:612438
Leukodystrophy, Hypomyelinating, 11
Tremor, Cerebellar atrophy, Ataxia, Spasticity OMIM:616494
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Dystonia, Gait disturbance, Cerebral atrophy, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Oculomotor apraxia, Lower limb muscle weakness... ORPHA:313772
Spastic Paraplegia 26, Autosomal Recessive
Spastic paraplegia, Dystonia, Difficulty walking, Toe walking, Ataxia, Cerebral cortical atrophy,... OMIM:609195
Hemidystonia-Hemiatrophy Syndrome
Dystonia, Abnormal pyramidal sign, Hemiparesis, Babinski sign, Limb dystonia ORPHA:306741
Developmental And Epileptic Encephalopathy 92
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia, Myoclonus, Spasticity OMIM:617829
Hsd10 Mitochondrial Disease
Generalized hypotonia, Hypotonia, Retinal degeneration, Cerebral cortical atrophy, Spastic tetrap... OMIM:300438
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Hypertonia, Flexion contracture, Distal amyotrophy, Babinski sign, Distal sensory impairm... OMIM:609260
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Dystonia, Chorea, Hyperkinetic movements, Cerebral atrophy, Oculogyric crisis,... OMIM:614254
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Roussy-Lévy Syndrome
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Intrinsic hand muscle atr... ORPHA:3115
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Neurodegeneration With Brain Iron Accumulation 3
Tremor, Dystonia, Rigidity, Hypomimic face, Chorea, Neurodegeneration, Blepharospasm, Ataxia, Bra... OMIM:606159
Dystonia 28, Childhood-Onset
Dystonia, Gait disturbance, Spasticity, Toe walking, Craniofacial dystonia, Laryngeal dystonia, T... OMIM:617284
Mucolipidosis Iv
Dystonia, Generalized hypotonia, Retinal degeneration, Cerebellar atrophy, Spastic tetraplegia, B... OMIM:252650
Autosomal Recessive Progressive External Ophthalmoplegia
Cogwheel rigidity, Hand muscle weakness, Scapular winging, Paresthesia, Parkinsonism with favorab... ORPHA:254886
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Dystonia, Spastic paraparesis, Cerebral atrophy, Bradykinesia, Cerebellar atrophy, Parkin... ORPHA:329284
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Cerebellar atrophy, Impaired vibration sensation in the lower l... OMIM:610245
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Dystonia, Ataxia, Abnormal upper motor neuron morphology, Cerebral cortical atro... OMIM:607694
Neurodegeneration With Brain Iron Accumulation 4
Tremor, Dystonia, Scapular winging, Abnormality of extrapyramidal motor function, Gait disturbanc... OMIM:614298
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Dystonia, Writer's cramp, Torticollis, Myoclonus, Limb myoclonus ORPHA:36899
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Op... OMIM:270500
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Gait disturbance, Skeletal muscle hypertrophy, Ataxia, Impaired pain sensati... ORPHA:99014
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Generalized hypotonia, Difficulty walking, Flexion contracture, Cerebral atrophy, Stereotypy, Spa... OMIM:617393
Oculorenocerebellar Syndrome
Spastic diplegia, Choreoathetosis, Retinal degeneration OMIM:257970
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Difficulty walking, Flexion contrac... ORPHA:171442
Dystonia 3, Torsion, X-Linked
Tremor, Torsion dystonia, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Gait ataxia, Truncal ataxia, Head tremor, Abnormal pyramidal sign, Cerebral atrophy, Progressive ... ORPHA:352641
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Ataxia, Torticollis, Cerebellar vermis atrophy, Babinski sign, Limb dystonia, Frequent falls, Cho... OMIM:619054
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Impaired tandem gait, Cerebellar atrophy, Myoclonus, Dysme... OMIM:619028
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Autosomal Recessive Spastic Paraplegia Type 26
Pseudobulbar paralysis, Dystonia, Impaired vibration sensation at ankles, Gait disturbance, Cereb... ORPHA:101006
Ceroid Lipofuscinosis, Neuronal, 6
Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Gait ataxia, Lethargy, Generalized hypotonia, Abnormality of extrapyramidal moto... ORPHA:101150
Parkinson Disease 14, Autosomal Recessive
Tremor, Apraxia, Clumsiness, Dystonia, Global brain atrophy, Bradykinesia, Frontotemporal cerebra... OMIM:612953
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Hemiparesis, Paralysis, Ataxia, Myoclonus, Babinski sign, Choreoat... OMIM:606777
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Dystonia, Abnormal pyramidal sign, Ataxia OMIM:619196
Childhood-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Generalized hypotonia, Clumsine... ORPHA:171439
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Degeneration of the lateral corticospinal tracts, Tremor, Lower limb muscle w... OMIM:600363
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Granular macular ap... OMIM:608051
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Neonatal hypotonia, Congenital muscular dystrophy, Skeletal muscle atrophy, Infantile muscular hy... OMIM:613204
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Generalized hypotonia, Loss of ability to walk, Ataxia, Unsteady gait, Cerebellar atrophy... OMIM:617917
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Spinal muscular atrophy, Difficulty walking, Progressive distal muscular atrophy, Degener... OMIM:159950
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
EMG: myopathic abnormalities, Parkinsonism with favorable response to dopaminergic medication, Se... OMIM:157640
Cone-Rod Dystrophy 7
Macular atrophy, Cone/cone-rod dystrophy, Bull's eye maculopathy OMIM:603649
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Cerebellar atrophy, Myoclonus, Babi... OMIM:615362
Caribbean Parkinsonism
EMG: myopathic abnormalities, Dystonia, Apraxia, Progressive gait ataxia, Bradykinesia, Weakness ... ORPHA:97355
Merrf
Myopathy, Ragged-red muscle fibers, Optic atrophy, Ataxia ORPHA:551
Mitochondrial Complex I Deficiency, Nuclear Type 16
Dystonia, Generalized hypotonia, Aplasia of the left hemidiaphragm, Caudate atrophy, Spastic tetr... OMIM:618238
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Torticollis, Unsteady gait, Parkinsonism,... ORPHA:210571
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Dystonia, Hypertonia, Myoclonus, Choreoathetosis, Hypotonia OMIM:261630
Alpha-B Crystallin-Related Late-Onset Myopathy
EMG: myopathic abnormalities, Facial diplegia, Difficulty walking, Muscle fiber inclusion bodies,... ORPHA:399058
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Cerebellar atrophy OMIM:141500
Developmental And Epileptic Encephalopathy 58
Inability to walk, Generalized hypotonia, Spastic diplegia, Stereotypy, Optic atrophy OMIM:617830
Dystonia 11, Myoclonic
Tremor, Generalized hypotonia, Writer's cramp, Torticollis, Myoclonus, Hypotonia OMIM:159900
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Gait disturbance, Ataxia, Distal lower limb amyotrophy, Impaired pain sensation, Distal u... ORPHA:101075
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
Baker-Gordon Syndrome
Inability to walk, Dystonia, Neonatal hypotonia, Hyperkinetic movements, Ataxia, Stereotypy, Invo... OMIM:618218
Alternating Hemiplegia Of Childhood 1
Episodic hemiplegia, Dystonia, Episodic quadriplegia, Tetraplegia, Choreoathetosis OMIM:104290
Multiple Mitochondrial Dysfunctions Syndrome 6
Dystonia, Generalized hypotonia, Ataxia, Cerebellar atrophy, Dysmetria, Optic disc pallor, Spasti... OMIM:617954
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Chorea, Paroxysmal dyskinesia, Poor coordination, Ataxia, Muscular hypotonia of the tru... OMIM:619150
Huntington Disease-Like 3
Dystonia, Extrapyramidal muscular rigidity, Abnormality of extrapyramidal motor function, Progres... ORPHA:157946
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Muscular hypotonia of the trunk, Unsteady ... OMIM:616921
Myopathy, Spheroid Body
Tremor, Proximal amyotrophy, Waddling gait, Skeletal muscle atrophy, Myopathy, Broad-based gait OMIM:182920
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Abnormality of extrapyramidal motor function, Global brain atrophy, Hyperactivity, Rigi... OMIM:234200
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Inability to walk, Dystonia, Generalized hypotonia, Chorea, Cerebral atrophy, Ataxia, Cerebellar ... OMIM:617804
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Dystonia, Tetraparesis, Ataxia, Spastic tetraplegia, Infantile muscular hypotonia ORPHA:263410
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Apraxia, Lethargy, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Myoclonus, Extra... ORPHA:71277
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Hand tremor, Proximal amyotrophy, Degeneration of anterior horn cells, T... OMIM:271150
Oliver-Mcfarlane Syndrome
Hypogonadotropic hypogonadism, Distal amyotrophy, Pigmentary retinopathy, Retinal degeneration OMIM:275400
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Muscular hypotonia of the trunk, Unsteady gait, Frequent falls ORPHA:494526
Spastic Ataxia 3, Autosomal Recessive
Dystonia, Gait ataxia, Spastic ataxia, Cerebral cortical atrophy, Cerebellar atrophy, Dysmetria, ... OMIM:611390
Developmental And Epileptic Encephalopathy 7
Dystonia, Spastic tetraparesis, Generalized hypotonia, Hypotonia OMIM:613720
Spinal Muscular Atrophy, Infantile, James Type
Generalized hypotonia, Lower limb muscle weakness, Type 1 muscle fiber predominance, Distal amyot... OMIM:619042
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Dystonia, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Leukodystrophy, Hypomyelinating, 18
Dystonia, Flexion contracture, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, ... OMIM:618404
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Hypomimic face, Limb ataxia, Hypertonia, Bradykinesia, Parkinsonism, Generalized dystonia, Babins... OMIM:618824
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Frontotemporal Dementia With Motor Neuron Disease
Degeneration of the lateral corticospinal tracts, Apraxia, Abnormality of extrapyramidal motor fu... ORPHA:275872
Myopathy, Mitochondrial, And Ataxia
Dysdiadochokinesis, Inability to walk, Tremor, Truncal ataxia, Generalized hypotonia, Pigmentary ... OMIM:617675
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Dystonia, Generalized hypotonia, Cerebral cortical atrophy, Involuntary moveme... OMIM:617820
Parkinson Disease 19A, Juvenile-Onset
Tremor, Dystonia, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Lopes-Maciel-Rodan Syndrome
Tremor, Dystonia, Hypertonia, Abnormal pyramidal sign, Cerebral atrophy, Ankle clonus, Bradykines... OMIM:617435
Mitochondrial Complex I Deficiency, Nuclear Type 26
Dystonia, Cerebral atrophy, Limb hypertonia, Distal amyotrophy, Cerebellar atrophy, Choreoathetos... OMIM:618247
Liberfarb Syndrome
Optic disc pallor, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... OMIM:618889
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Leukodystrophy, Hypomyelinating, 14
Dystonia, Generalized hypotonia, Cerebral atrophy, Cerebellar atrophy, Spasticity OMIM:617899
Hsd10 Disease, Infantile Type
Dystonia, Spastic tetraparesis, Spastic diplegia, Poor coordination, Hyperkinetic movements, Reti... ORPHA:391428
Mental Retardation, Autosomal Dominant 6, With Or Without Seizures
Chorea, Dystonia, Generalized hypotonia, Spasticity OMIM:613970
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Ataxia, Dystonia OMIM:616113
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Aceruloplasminemia
Cogwheel rigidity, Abnormality of extrapyramidal motor function, Chorea, Blepharospasm, Ataxia, R... OMIM:604290
Developmental And Epileptic Encephalopathy 27
Dystonia, Generalized hypotonia, Chorea, Spasticity, Hypotonia OMIM:616139
Premature Ovarian Failure 6
Streak ovary, Primary amenorrhea, Female infertility, Secondary amenorrhea, Premature ovarian ins... OMIM:612310
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Lethargy, Generalized hypotonia, Abnormality of extrapyramidal motor function, Abnormal... OMIM:618224
Epilepsy, Progressive Myoclonic 7
Tremor, Cerebellar atrophy, Myoclonus, Ataxia OMIM:616187
Pantothenate Kinase-Associated Neurodegeneration
Dystonia, Abnormality of extrapyramidal motor function, Toe walking, Bull's eye maculopathy, Rigi... ORPHA:157850
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Retinitis, Retinal pigment epithelial mottling, Retinal pigment epithelia... ORPHA:85128
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Dystonia, Spastic tetraplegia, Muscular hypotonia of the trunk OMIM:251280
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Gait disturbance, Proximal muscle weakness in lower limbs, Waddling gait, Myopathy, Increased var... ORPHA:1878
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Tip-toe ... ORPHA:397946
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Dystonia, Optic atrophy, Ataxia ORPHA:1171
Amyotrophic Lateral Sclerosis 4, Juvenile
Difficulty walking, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degene... OMIM:602433
Blepharonasofacial Malformation Syndrome
Torsion dystonia, Facial palsy OMIM:110050
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Dystonia, Chorea, Ataxia, Cerebellar atrophy, Parkinsonism, Dysmetria, Babin... OMIM:618093
Stargardt Disease 3
Macular atrophy, Macular flecks, Macular dystrophy OMIM:600110
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function OMIM:165300
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Apraxia, Paraparesis, Cerebral atrophy, Tetraparesis, Abnormal lower motor neuron morphology, Amy... OMIM:105550
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Generalized hypotonia, Gait disturbance, Cerebellar atrophy, Dysmetria... OMIM:618090
Kufor-Rakeb Syndrome
Spastic paraplegia, Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medica... OMIM:606693
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
2,4-Dienoyl-Coa Reductase Deficiency
Dystonia, Hypotonia, Neonatal hypotonia, Cerebral atrophy, Tetraplegia, Choreoathetosis, Spasticity OMIM:616034
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Dystonia, Abnormal pyramidal sign, Progressive cerebellar ataxia, Cerebellar atrophy, Myo... ORPHA:139485
Autosomal Recessive Spastic Paraplegia Type 11
Inability to walk, Frontal cortical atrophy, Abnormality of extrapyramidal motor function, Parapa... ORPHA:2822
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Proximal amyotrophy, Gait disturbance, Degeneration of anterior horn cells, Distal sensory impair... OMIM:604484
Spinal Muscular Atrophy, Type Iii
Spinal muscular atrophy, Degeneration of anterior horn cells, Tongue fasciculations, Skeletal mus... OMIM:253400
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Distal amyotrophy, Generalized hypotonia, Ataxia OMIM:619099
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Unsteady gait, Waddling gait, Rimmed vacuoles, Myopathy, Increase... OMIM:612937
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Dystonia, Truncal ataxia, Limb ataxia, Neonatal hypotonia, Abnormal pyramidal sign, Head titubati... OMIM:617560
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Generalized hypotonia, Impaired vibratory sensation, Spinoce... OMIM:183090
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Facial hypotonia, Hypotonia, Difficulty walking, Cerebral cortical atrophy, Cerebellar ... ORPHA:280763
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Dystonia, Generalized hypotonia, Spasticity, Ataxia, Left ventricular hypertrophy, Hypotonia OMIM:614458
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Dystonia, Hypotonia, Neonat... ORPHA:3095
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Truncal ataxia, C... ORPHA:228360
Macular Dystrophy, Vitelliform, 2
Subretinal fluid, Cystoid macular degeneration, Macular dystrophy OMIM:153700
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration OMIM:618513
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Increased variability in muscle fib... ORPHA:353
Friedreich Ataxia
Inability to walk, Dystonia, Gait ataxia, Limb ataxia, Cervical spinal cord atrophy, Chorea, Poor... ORPHA:95
Muscular Dystrophy, Congenital, Merosin-Positive
Neonatal hypotonia, Congenital muscular dystrophy, Flexion contracture, Shoulder girdle muscle we... OMIM:609456
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Ataxia-Telangiectasia-Like Disorder
Dysdiadochokinesis, Dystonia, Gait ataxia, Generalized hypotonia, Hypergonadotropic hypogonadism,... ORPHA:251347
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Infertility, Limb dysmetria, Head tremor, Upper limb spasticity, Knee clonus,... OMIM:614409
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Falls, Par... ORPHA:306692
Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration
Choroidal neovascularization, Distal amyotrophy, Distal sensory impairment, Macular degeneration,... OMIM:608895
Glut1 Deficiency Syndrome 2
Tremor, Dystonia, Cerebral atrophy, Ataxia, Choreoathetosis OMIM:612126
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Gait ataxia, Neurodegeneration, Retinal telangiectasia, Cerebellar atrophy, Congenital diaphragma... ORPHA:438134
Aceruloplasminemia
Tremor, Gait ataxia, Abnormality of retinal pigmentation, Macular degeneration, Dystonia, Akinesi... ORPHA:48818
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Stereotypy, Attention deficit hyperactivity disorder, Ataxia, Hypotonia OMIM:618709
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Cerebellar atrophy, Dysmetria OMIM:616291
Intellectual Developmental Disorder, X-Linked 104
Tremor, Ataxia, Cerebral cortical atrophy, Hyperactivity, Optic atrophy, Spasticity OMIM:300983
Monomelic Amyotrophy
Fasciculations, Tremor, Degeneration of anterior horn cells, Distal upper limb amyotrophy ORPHA:65684
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Proximal mu... OMIM:618138
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Chorea, Abnormal pyramidal sign, Ataxia, Bradykinesia, Parkinsonism, Dysmetria OMIM:618317
Machado-Joseph Disease
Dystonia, Truncal ataxia, Impaired vibratory sensation, Spinocerebellar tract degeneration, Abnor... OMIM:109150
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Truncal ataxia, Reduced sperm motility, Corpus callosum atrophy, Abnormal sperm head... ORPHA:320391
Finnish Upper Limb-Onset Distal Myopathy
EMG: myopathic abnormalities, Clumsiness, Intrinsic hand muscle atrophy, Difficulty walking, Weak... ORPHA:399086
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal pyramidal sign, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, D... OMIM:602099
Tremor-Ataxia-Central Hypomyelination Syndrome
Positive Romberg sign, Postural tremor, Hypogonadotropic hypogonadism, Clumsiness, Dystonia, Inte... ORPHA:447896
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Generalized hypotonia, Hypotonia, Limb ataxia, Ataxia, Unste... OMIM:213200
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Dystonia, Muscular hypotonia of the trunk, Cerebral cortical atrophy, Myoclonus, Optic atrophy, S... OMIM:617669
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Difficulty walking, Quadriceps muscle weakness, Pelvic girdle muscle weakness, ... OMIM:603689
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Loss of ability to walk, Skeletal muscle fibrosis, Rimmed vacuo... ORPHA:34516
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Dysdiadochokinesis, EMG: myopathic abnormalities, Tremor, Increased muscle glycogen content, Gene... ORPHA:502423
Spinocerebellar Ataxia, X-Linked 1
Neonatal hypotonia, Action tremor, Ataxia, Cerebellar atrophy, Intention tremor OMIM:302500
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Gait disturbance, Ataxia, Frontotemporal cerebral atrophy,... ORPHA:391417
Central Core Disease Of Muscle
Neonatal hypotonia, Centrally nucleated skeletal muscle fibers, Central core regions in muscle fi... OMIM:117000
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Generalized hypotonia, Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predomina... OMIM:618654
Mohr-Tranebjaerg Syndrome
Inability to walk, Tremor, Apraxia, Dystonia, Attention deficit hyperactivity disorder, Global br... ORPHA:52368
4H Leukodystrophy
Dysdiadochokinesis, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Progressive g... ORPHA:289494
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, Increased endomysial connective tissue, Rimmed vacuoles, Fatty repl... OMIM:618940
Congenital Arthrogryposis With Anterior Horn Cell Disease
Inability to walk, Abnormal anterior horn cell morphology, Dystonia, Arthrogryposis multiplex con... OMIM:611890
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Abnorm... OMIM:617225
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Dystonia, Rigidity, Hypertonia, Ataxia, Bradykinesia, Muscular hypotonia of the trunk, Pa... OMIM:261640
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Inability to walk, Corpus callosum atrophy, Gait disturbance, Cerebral atroph... ORPHA:168491
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Abnormal pyramidal sign, Lower limb hypertonia, Lower limb muscle weakn... ORPHA:99013
Spinal Muscular Atrophy, Type Ii
Spinal muscular atrophy, Degeneration of anterior horn cells, Tongue fasciculations, Skeletal mus... OMIM:253550
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Tremor, Dystonia, Generalized hypotonia, Abnormality of coordination, Hypomim... ORPHA:352649
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Abnormal pyramidal sign, Tetraparesis, Cerebral atr... ORPHA:363400
Machado-Joseph Disease Type 3
Dystonia, Clumsiness, Spinocerebellar tract degeneration, Abnormality of extrapyramidal motor fun... ORPHA:276244
Spinocerebellar Ataxia, Autosomal Recessive 17
Tremor, Generalized hypotonia, Truncal ataxia, Unsteady gait, Dysmetria, Hypotonia OMIM:616127
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic tetraparesis, Abnormal pyramidal sign, Bradykinesia, Spastic gait, Hemidystonia, Optic at... OMIM:619052
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Dystonia, Paresthesia, Paroxysmal dyskinesia, Abnormal pyram... ORPHA:53583
Charcot-Marie-Tooth Disease Type 1F
Hand muscle weakness, Hand muscle atrophy, Distal lower limb amyotrophy, Skeletal muscle atrophy,... ORPHA:101085
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertonia, Muscular hypotonia of the trunk, Retinal degeneration, Opisthotonus, Skeletal muscle ... OMIM:616896
Ataxia-Telangiectasia-Like Disorder 1
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Oculomotor apraxia, Lower limb spasticity, Dis... OMIM:604391
Autosomal Dominant Spastic Paraplegia Type 12
Degeneration of the lateral corticospinal tracts, Difficulty walking, Limb ataxia, Spinal cord le... ORPHA:100993
Dystonia With Ringbinden
Chorea, Dystonia, Gait disturbance OMIM:224550
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Ataxia, Myoclonus, Myopathy, Spasticity OMIM:545000
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Tremor, Clumsiness, Spastic paraparesis, Impaired tactile sensation, Difficulty walki... ORPHA:206443
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Dystonia, Generalized hypotonia, Difficulty walking, Hemiparesis, Bradykinesia, Brain atr... ORPHA:306669
Neurodegeneration With Brain Iron Accumulation 2A
Generalized hypotonia, Abnormal pyramidal sign, Cerebral atrophy, Neurodegeneration, Ataxia, Unst... OMIM:256600
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Generalized hypotonia, Abnormal pyramidal sign, Ataxia, Unsteady gait, Op... OMIM:614947
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Generalized hypotonia, Stereotypy OMIM:606053
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Skeletal muscle at... ORPHA:611
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Dystonia, Chorea, Muscular hypotonia of the trunk, Stereotypical hand wringing OMIM:618760
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Machado-Joseph Disease Type 1
Dystonia, Clumsiness, Spinocerebellar tract degeneration, Abnormality of extrapyramidal motor fun... ORPHA:276238
Machado-Joseph Disease Type 2
Dystonia, Clumsiness, Spinocerebellar tract degeneration, Abnormality of extrapyramidal motor fun... ORPHA:276241
Leber Optic Atrophy And Dystonia
Dystonia, Bradykinesia, Leber optic atrophy, Upper motor neuron dysfunction, Skeletal muscle atro... OMIM:500001
Dystonia 15, Myoclonic
Writer's cramp, Dystonia, Myoclonus OMIM:607488
Late-Onset Retinal Degeneration
Retinopathy, Rod-cone dystrophy, Retinal degeneration, Sub-RPE deposits OMIM:605670
N-Acetylaspartate Deficiency
Unsteady gait, Generalized hypotonia, Truncal ataxia, Stereotypy OMIM:614063
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Stereotypy, Skeletal muscle atrophy, Babinski sign, Spasticity OMIM:612069
Congenital Muscular Dystrophy, Ullrich Type
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Generalized hypotonia, Increased ... ORPHA:75840
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Generalized hypotonia, Hypertonia, Bradykinesia, Muscular hypotonia of the trunk, Limb ... OMIM:617384
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Abnormal upper motor neuron morphology, Spastic gait, Babinski sign, Spasti... OMIM:611637
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Torticollis, Ataxia ORPHA:71518
Ataxia-Oculomotor Apraxia Type 4
Dystonia, Muscular dystrophy, Progressive distal muscular atrophy, Oculomotor apraxia, Ataxia, So... ORPHA:459033
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Attenuation of retinal blood vessels, Cerebral atrophy, Tetraparesis, Ataxia, Ce... OMIM:619260
Adult-Onset Cervical Dystonia, Dyt23 Type
Neck muscle hypertrophy, Axial dystonia, Head tremor, Difficulty walking, Craniofacial dystonia, ... ORPHA:420492
Familial Dyskinesia And Facial Myokymia
Dystonia, Difficulty walking, Chorea, Facial myokymia, Resting tremor, Muscular hypotonia of the ... ORPHA:324588
Infantile Dystonia-Parkinsonism
Dystonia, Hypomimic face, Chorea, Hypertonia, Abnormal pyramidal sign, Bradykinesia, Muscular hyp... ORPHA:238455
Glutathionuria
Tremor OMIM:231950
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Difficulty walking, Neonatal hypotonia, Muscular dystrophy, Centrally nucleated skeletal muscle f... ORPHA:86812
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Amyotrophic lateral sclerosis, Brain atrophy, Abnormal motor neuron... ORPHA:52430
Developmental And Epileptic Encephalopathy 1
Dystonia, Global brain atrophy, Erratic myoclonus, Hypertonia, Abnormal pyramidal sign, Spastic t... OMIM:308350
Spinocerebellar Ataxia Type 3
Dystonia, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Prog... ORPHA:98757
Peroxisome Biogenesis Disorder 5B
Tremor, Generalized hypotonia, Neonatal hypotonia, Oculomotor apraxia, Ataxia, Retinal dystrophy,... OMIM:614867
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Gait disturbance, Ataxia, Skeletal muscle atrophy, Impaired pain sensation ORPHA:101078
Intellectual Developmental Disorder, X-Linked 72
Stereotypy, Hyperactivity OMIM:300271
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Pigmentary retinopathy, Poor motor coordination, Poor fine motor coordination, Loss o... ORPHA:79264
Leukodystrophy, Hypomyelinating, 21
Dystonia, Corpus callosum atrophy, Tetraparesis, Ataxia, Cerebellar atrophy, Hypogonadotropic hyp... OMIM:619310
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Generalized hypotonia, Chorea, Slurred speech, Poor fine... ORPHA:157941
Peroxisomal Acyl-Coa Oxidase Deficiency
Dystonia, Pigmentary retinopathy, Neonatal hypotonia, Hypertonia, Babinski sign, Optic atrophy, R... OMIM:264470
Primary Dystonia, Dyt2 Type
Tremor, Torsion dystonia, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Spina bifida, Retinal degeneration OMIM:311000
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic hand muscles, Type 2 muscle f... OMIM:160565
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Speech apraxia, Difficulty walking, Hypertonia, Gait disturbance, Neurodegen... ORPHA:79244
Pontocerebellar Hypoplasia, Type 2C
Chorea, Dystonia OMIM:612390
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dystonia, Lethargy, Generalized hypotonia, Ataxia, Brain atrophy, Cerebellar atrophy, Babinski si... OMIM:618226
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Distal amyotrophy, Distal sensory impairment, Steppage gait, Foot dorsiflexor weakne... OMIM:302802
Dystonia 7, Torsion
Torsion dystonia, Clumsiness, Skeletal muscle hypertrophy, Blepharospasm, Writer's cramp, Oromand... OMIM:602124
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Hypomimic face, Gait disturbance, Cerebral atrophy, Bradykinesia, Action tremor, Cerebel... OMIM:300423
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Spastic paraplegia, Dystonia, Neonatal hypotonia, Poor fine motor coordination, Ataxia, Unsteady ... OMIM:245349
Huntington Disease-Like 3
Dystonia, Frontal cortical atrophy, Abnormality of extrapyramidal motor function, Chorea, Abnorma... OMIM:604802
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
Autosomal Dominant Spastic Paraplegia Type 9B
Postural tremor, Progressive gait ataxia, Atrophy of the spinal cord, Spastic gait, Progressive i... ORPHA:447757
Huntington Disease
Inability to walk, Dystonia, Clumsiness, Difficulty walking, Chorea, Gait disturbance, Poor fine ... ORPHA:399
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Tremor, Generalized hypotonia, Ataxia, Bradykinesia, Rigidity OMIM:617836
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Writer's cramp, Paroxysmal dystonia ORPHA:163727
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Abnormality of extrapyramidal motor function, Chorea, A... ORPHA:500180
Mitochondrial Complex I Deficiency, Nuclear Type 23
Dystonia, Generalized hypotonia, Skeletal muscle atrophy OMIM:618244
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Generalized neonatal hypotonia, Action tremor, Unsteady gait, Intenti... ORPHA:314978
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, ... ORPHA:240085
Spinocerebellar Ataxia Type 11
Dystonia, Difficulty walking, Abnormal pyramidal sign, Progressive cerebellar ataxia, Gait imbalance ORPHA:98767
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Oculomotor apraxia, Ataxia, Muscular hypotonia of the trunk, Hyperactivity, Cho... OMIM:612716
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Apraxia, Gait ataxia, Generalized hypotonia, Cerebellar atrophy, Dysme... OMIM:617810
Spinocerebellar Ataxia, Autosomal Recessive 18
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Incoordination, Flexion contracture, Oculomotor ... OMIM:616204
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Generalized hypotonia, Hypotonia, Chorea, Cerebral atrophy, Stereotypy, Hyperactivity, ... ORPHA:88616
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation, Ataxia, Hemiplegia/hemiparesis, Skeletal muscle atrophy, Rag... ORPHA:480
Primary Dystonia, Dyt21 Type
Paroxysmal dystonia, Axial dystonia, Dystonia, Blepharospasm, Laryngeal dystonia, Torticollis, Ge... ORPHA:306734
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia, Generalized hypotonia OMIM:264070
X-Linked Charcot-Marie-Tooth Disease Type 2
Tibialis atrophy, Hand muscle weakness, Intrinsic hand muscle atrophy, Spastic paraparesis, Stepp... ORPHA:101076
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Dystonia, Gait ataxia, Chorea, Cerebral atrophy, Cerebellar atrophy, Stereotyp... OMIM:618917
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Dystonia, Generalized hypotonia, Rhabdomyolysis, Ataxia, Choreoathetosis, Weakness of facial musc... OMIM:618416
Bardet-Biedl Syndrome 16
Hypogonadism, Rod-cone dystrophy, Retinal degeneration OMIM:615993
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Rod-cone dystrophy OMIM:609923
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Dystonia, Hypertonia, Cerebral atrophy, Ataxia, Muscular hypotonia of the trunk, Limb hypertonia,... OMIM:617710
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Jaberi-Elahi Syndrome
Inability to walk, Tremor, Gait ataxia, Dystonia, Generalized hypotonia, Cerebellar atrophy, Dysm... OMIM:617988
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Cogwheel rigidity, Gait ataxia, Dystonia, Lethargy, Chorea, Hypertonia, Abnorm... OMIM:607483
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Dysdiadochokinesis, Macular degeneration, Gait ataxia, Akinesia, Hypomimic face, Abnormal vestibu... ORPHA:247234
Spastic Paraplegia 53, Autosomal Recessive
Spastic paraplegia, Dystonia, Impaired vibratory sensation, Gait disturbance, Lower limb hyperton... OMIM:614898
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Riboflavin Transporter Deficiency
Tremor, Ataxia, Cerebral cortical atrophy, Facial palsy, Myoclonus, Abnormality of macular pigmen... ORPHA:97229
Aicardi-Goutieres Syndrome 2
Spastic paraplegia, Dystonia, Cerebral atrophy OMIM:610181
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired pain sensation, Impaired vibratory sensation, Impaired temperature sensation, Abnormal m... DECIPHER:29
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Gait disturbance, Cerebral cortical atrophy, Myoclonus, Babinski sign, Stereotypy, Rigi... OMIM:600795
Charcot-Marie-Tooth Disease, Type 4K
Difficulty walking, Dystonia, Ataxia, Skeletal muscle atrophy OMIM:616684
Primary Lateral Sclerosis, Juvenile
Spastic tetraparesis, Spasticity of pharyngeal muscles, Abnormal upper motor neuron morphology, S... OMIM:606353
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Tremor, Gait ataxia, Truncal ataxia, Rigidity, Dystonia, Hypotonia, Hypertonia... OMIM:618877
Epilepsy, Nocturnal Frontal Lobe, 4
Dystonia OMIM:610353
Spinocerebellar Ataxia, X-Linked 5
Neonatal hypotonia, Ataxia, Action tremor OMIM:300703
Mental Retardation, Autosomal Recessive 58
Spastic diplegia, Choreoathetosis, Muscular hypotonia of the trunk, Stereotypy OMIM:617270
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Lethargy, Hypertonia, Infantile muscular hypotonia, Myopathy, Optic atrophy ORPHA:26792
Hyperprolinemia, Type I
Generalized hypotonia, Ataxia, Stereotypy, Hyperactivity, Hypotonia OMIM:239500
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ability to walk, Rigidity, Dystonia OMIM:615010
Gabriele-De Vries Syndrome
Tremor, Waddling gait, Dystonia OMIM:617557
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Dystonia, Generalized hypotonia, Difficulty walking, Abnormal pyramidal sign, Cerebral atrophy, H... ORPHA:527497
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Camptodactyly of finger, Optic atrophy, Ataxia, Retinal degeneration OMIM:214980
Christianson Syndrome
Dystonia, Arthrogryposis multiplex congenita, Gait ataxia, Truncal ataxia, Decreased muscle mass,... ORPHA:85278
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Generalized hypotonia, Hypertonia, Intention tremor, Flexion contracture, At... OMIM:616505
Autosomal Recessive Ataxia, Beauce Type
Clumsiness, Impaired vibratory sensation, Neonatal hypotonia, Gait disturbance, Lower limb muscle... ORPHA:88644
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Difficulty walking, Cerebral atrophy, Ataxia, Retinal dystrophy, Muscular hypotonia of ... ORPHA:464282
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Cerebral atrophy, Weakness of facial musculature, Ataxia OMIM:618637
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Rigidity, Abnormality of extrapyramidal motor function, Chorea, Hypertonia, Hyperkineti... ORPHA:13
Dystonia 12
Dystonia, Hypomimic face, Bradykinesia, Unsteady gait, Torticollis, Parkinsonism OMIM:128235
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Rare Non-Syndromic Intellectual Disability
Dystonia, Generalized hypotonia, Difficulty walking, Cerebral atrophy, Spasticity ORPHA:101685
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Dystonia 16
Postural tremor, Gait disturbance, Abnormal pyramidal sign, Bradykinesia, Laryngeal dystonia, Par... OMIM:612067
Ataxia-Oculomotor Apraxia 4
Dystonia, Oculomotor apraxia, Ataxia, Cerebellar atrophy, Tetraplegia OMIM:616267
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Dystonia, Spastic tetraparesis, Choroidal neovascularization, Cerebral cortical atrophy, Syringom... ORPHA:404451
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic atrophy, Optic disc pallor, Peripheral retinal degeneration OMIM:609021
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Ataxia, Achilles tendon contracture, Cerebellar atrophy, Distal amyotrophy, Dysmetria, Intention ... OMIM:612674
Combined Oxidative Phosphorylation Deficiency 13
Dystonia, Muscular hypotonia of the trunk, Skeletal muscle atrophy, Severe muscular hypotonia, Ch... OMIM:614932
Pyruvate Dehydrogenase E1-Alpha Deficiency
Episodic ataxia, Lethargy, Dystonia, Generalized hypotonia, Cerebral atrophy, Choreoathetosis, Hy... OMIM:312170
Dopa-Responsive Dystonia
Inability to walk, Tremor, Dystonia, Lethargy, Abnormality of extrapyramidal motor function, Diff... ORPHA:255
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Tremor, Dystonia, Limb dysmetria, Chorea, Gait disturbance, Abnormal pyramida... OMIM:213600
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Flexion contracture, Cerebral atrophy, Infantile muscular hypotonia, Stereotypical hand wringing,... ORPHA:500545
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
EMG: myopathic abnormalities, Hand muscle weakness, Increased endomysial connective tissue, Trice... ORPHA:437572
Zebra Body Myopathy
EMG: myopathic abnormalities, Neonatal hypotonia, Limb-girdle muscular dystrophy, Torticollis, Au... ORPHA:97240
Adrenoleukodystrophy
Spastic paraplegia, Incoordination, Truncal ataxia, Impaired vibration sensation at ankles, Limb ... OMIM:300100
Paroxysmal Nonkinesigenic Dyskinesia 2
Paroxysmal dystonia OMIM:611147
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Pontocerebellar Hypoplasia, Type 2B
Dystonia, Generalized hypotonia, Hypotonia, Chorea, Cerebral atrophy, Muscular hypotonia of the t... OMIM:612389
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Huntington Disease-Like 2