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Gene: Ttpa MGI:1354168

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

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 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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Abnormality of retinal pigmentation, Ataxia, Tremor, Hemiplegia/hemipare... ORPHA:96
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Hypertriglyceridemia, Ataxia, Tendon xanthomatosis, Impaired proprioception, ... OMIM:277460

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility ORPHA:488191
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Dystonia 30
Torticollis, Diffuse cerebral atrophy, Writer's cramp, Impulsivity, Aggressive behavior, Leg dyst... OMIM:619291
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Sandhoff Disease, Adult Form
Tremor, Dysphagia, Focal dystonia, Upper limb muscle weakness, Proximal muscle weakness in lower ... ORPHA:309169
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gai... OMIM:614322
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Distal amyotrophy,... OMIM:617018
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Involuntary movements, Torsion dyst... ORPHA:98807
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy OMIM:311050
Spinal Muscular Atrophy, Type Iv
Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Centrally nucleated skeletal m... OMIM:271150
Spastic Paraplegia 11, Autosomal Recessive
Lower limb spasticity, Skeletal muscle atrophy, Ataxia, Thenar muscle atrophy, Degeneration of th... OMIM:604360
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Spastic paraplegia, Impaired vibration sensation i... ORPHA:251282
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... OMIM:256731
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Distal lower limb amyotrophy, Distal sensory impairment, Macular degeneration, Distal upper limb ... OMIM:619764
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent l... OMIM:204500
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Torticollis, Dystonia, Progressive cerebellar ataxia, Dysphagia, Craniofacial... OMIM:611694
Autosomal Dominant Focal Dystonia, Dyt25 Type
Axial dystonia, Torticollis, Focal dystonia, Limb dystonia, Lingual dystonia, Laryngeal dystonia,... ORPHA:329466
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Axial hypotonia, Ataxia, Tremor, Babinski sign, Abnormal pyramid... OMIM:607317
Dystonia 4, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Hemidystonia, Torsion dystonia, Dysphagia, Gait ataxia, Limb d... OMIM:128101
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Increased neuronal autofluorescent lipopigment, Flexion contracture, Optic atrophy, Hypot... OMIM:256730
Primary Dystonia, Dyt17 Type
Torticollis, Generalized dystonia, Parkinsonism, Cerebral cortical atrophy, Craniofacial dystonia ORPHA:370103
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal amyotrophy, Distal sensory impairment, Fiber type grouping OMIM:614369
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... OMIM:614561
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Tip-toe gait, Gait disturbance, N... OMIM:615643
Atypical Pantothenate Kinase-Associated Neurodegeneration
Violent behavior, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, O... ORPHA:216873
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Ragged-red muscle fibers, Imp... ORPHA:276435
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Inability to walk, Hypotonia, Tongue fascicu... OMIM:618276
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Skeletal muscle atrophy, Ataxia, Tremor, Flexion contracture, Babinski sign, Spasticity OMIM:611105
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe... OMIM:619473
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Lower limb spasticity, Optic disc pallor, Axial hypotonia, Ataxia, Generalize... OMIM:619389
Dystonia, Early-Onset, And/Or Spastic Paraplegia
Spastic paraplegia, Difficulty walking, Dystonia, Laryngeal dystonia, Lower limb muscle weakness OMIM:619681
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Ske... OMIM:613954
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, M... OMIM:615924
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Skeletal muscle atrophy, Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Limb fasci... OMIM:615157
Dystonia 32
Limb dystonia, Torticollis, Brain atrophy, Dysphagia, Laryngeal dystonia OMIM:619637
Spastic Ataxia 1, Autosomal Dominant
Spastic ataxia, Dystonia, Spastic paraplegia, Dysphagia, Gait disturbance, Leg muscle stiffness OMIM:108600
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Hypotonia, Dysmetria, Dysphag... OMIM:618088
Amyotrophic Lateral Sclerosis 2, Juvenile
Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni... OMIM:205100
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Distal sensory impairment, Calf muscle ... OMIM:615048
Dystonia 33
Axial dystonia, Limb dystonia, Axial hypotonia, Babinski sign, Dystonia, Spasticity OMIM:619687
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Dystonia 23
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... OMIM:614860
Ceroid Lipofuscinosis, Neuronal, 3
Increased neuronal autofluorescent lipopigment, Parkinsonism, Increased extraneuronal autofluores... OMIM:204200
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Hypotonia, Dysmetria,... OMIM:617916
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Neurodegener... OMIM:610951
Dystonia 25
Lingual dystonia, Torticollis, Laryngeal dystonia, Limb dystonia OMIM:615073
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... ORPHA:178464
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Restlessness, Axial hypotonia, Ataxia, Inability to walk, Ragged-red muscle fibers, Athetosis, Ab... OMIM:615159
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls OMIM:615945
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib... OMIM:128230
Spastic Paraplegia 79B, Autosomal Recessive
Flexion contracture, Impaired proprioception, Hoffmann sign, Dysmetria, Opto-chiasmatic atrophy, ... OMIM:615491
Dyschromatosis Symmetrica Hereditaria
Macular hyperpigmentation, Macular hypopigmentation, Torsion dystonia ORPHA:41
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Axial hypotonia, Ataxia, Aggressive behavior, Chorea, Poor coordination, Bruxism, Falls, Inapprop... OMIM:619150
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Macular d... OMIM:164500
Dystonia 6, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ... OMIM:602629
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... OMIM:611302
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Gait ataxia, S... OMIM:258450
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Spinal muscular atrophy, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasciculations, Loss of ... OMIM:182980
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Involuntary movements, Centrally nucleated skeletal muscle fibers, Chorea... ORPHA:401768
Spinocerebellar Ataxia Type 1
Abnormal flash visual evoked potentials, Skeletal muscle atrophy, Cerebellar atrophy, Postural tr... ORPHA:98755
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor,... ORPHA:330050
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Familial Infantile Bilateral Striatal Necrosis
Gait ataxia, Choreoathetosis, Upper limb muscle weakness, Hypertonia, Atrophy/Degeneration involv... ORPHA:225154
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Multiple joint contractures, Infantile axial hypotonia, Parkinsonism, Tremor,... ORPHA:521406
Spinocerebellar Ataxia 12
Axial dystonia, Cerebellar atrophy, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... OMIM:604326
Parkinsonism-Dystonia 1, Infantile-Onset
Axial hypotonia, Dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal py... OMIM:613135
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Dystonia, Uppe... ORPHA:401901
X-Linked Charcot-Marie-Tooth Disease Type 3
Distal lower limb amyotrophy, Somatic sensory dysfunction, Hand muscle weakness, Tremor, Inabilit... ORPHA:101077
Myoclonus-Dystonia Syndrome
Torticollis, Writer's cramp, Myoclonus, Compulsive behaviors, Dystonia, Spinal myoclonus, Limb my... ORPHA:36899
Spinal Muscular Atrophy, Type Iii
Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cel... OMIM:253400
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Temporal ... OMIM:167320
Premature Ovarian Failure 13
Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Distal lower limb amyotrophy, Cerebellar atrophy, Incoordination, Hand muscle weakness, Tremor, P... OMIM:302800
Spinocerebellar Ataxia Type 2
Kinetic tremor, Postural tremor, Parkinsonism, Chorea, Spinal cord posterior columns myelin loss,... ORPHA:98756
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Axial hypotonia, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Spinocerebellar Ataxia 17
Cerebellar atrophy, Broad-based gait, Diffuse cerebral atrophy, Ataxia, Parkinsonism, Aggressive ... OMIM:607136
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Involuntary movements, Aggressive behavior, Chorea, Torsion dyston... ORPHA:98811
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum
Babinski sign, Cogwheel rigidity, Hypertonia, Attention deficit hyperactivity disorder, Dystonia,... OMIM:618284
Spastic Paraplegia, Ataxia, And Mental Retardation
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Impaired vibration sensati... OMIM:607565
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Impulsivity, Tremor, Rigidity, Unstea... ORPHA:442835
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Ataxia, Dysmetria, Dysphagia, Distal amyotrophy, Dysdiadochok... OMIM:614487
Hsd10 Mitochondrial Disease
Restlessness, Aggressive behavior, Optic atrophy, Hypotonia, Spastic tetraplegia, Choreoathetosis... OMIM:300438
Spinocerebellar Ataxia 18
Cerebellar atrophy, Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis... OMIM:607458
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Impaired vibratory sensation, Waddling gait, Somatic sensory dysfunction, Ragged-red muscle fiber... OMIM:616924
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Inability to walk, D... ORPHA:266
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Abnormal pyra... ORPHA:95434
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Ragged-red muscle fibers, Babinski sign,... OMIM:500003
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Babinski sign, Spastic diplegia, Myoclonus, Increased intramyocellular lipid droplets, Dy... OMIM:619065
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Chorioretinal dystrophy, Hypogonadotropic hypogonadism, Ataxia, Retinal dystr... OMIM:215470
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait ... ORPHA:247604
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Atrophy/Degeneration aff... OMIM:612319
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Dysphagia, Gait ataxia, Bradykines... ORPHA:71517
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity ORPHA:217012
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Vocal cord paresis OMIM:158580
Autosomal Recessive Spastic Paraplegia Type 56
Babinski sign, Unsteady gait, Spastic paraplegia, Tip-toe gait, Dystonia, Spastic gait ORPHA:320411
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Hypotonia OMIM:213000
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Impaired proprioception, Hand tremor, Head tremor, Retinal atrophy, Distal amyotrophy, Gait distu... ORPHA:412057
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... ORPHA:98810
Mepan Syndrome
Axial dystonia, Cerebellar atrophy, Dystonia, Ataxia, Hemidystonia, Chorea, Optic atrophy, Hypoto... ORPHA:508093
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Premature ovarian insufficiency, Ataxia, Babinski sign, Hand tremor, Neurodeg... OMIM:615889
Spastic Paraplegia 26, Autosomal Recessive
Distal lower limb amyotrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Spasti... OMIM:609195
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, ... ORPHA:300605
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking ORPHA:423296
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2
Rigidity, Difficulty walking, Sensory ataxia, Dystonia OMIM:619661
Spinocerebellar Ataxia 14
Cerebellar atrophy, Dysmetria, Gait ataxia, Focal dystonia, Progressive cerebellar ataxia, Dyspha... OMIM:605361
Developmental And Epileptic Encephalopathy 69
Axial hypotonia, Corpus callosum atrophy, Inability to walk, Spastic tetraplegia, Congenital cont... OMIM:618285
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Writer's cramp, Parkinsonism, Involuntary movements, Rig... ORPHA:98759
Striatonigral Degeneration, Childhood-Onset
Unsteady gait, Hypotonia, Dysphagia, Ankle clonus, Hypertonia, Steppage gait, Dystonia, Loss of a... OMIM:617054
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Axial hypotonia, Tremor, Unsteady gait, Abnormal pyramidal s... OMIM:617435
Leber Optic Atrophy And Dystonia
Skeletal muscle atrophy, Optic atrophy, Dysphagia, Bradykinesia, Athetosis, Leber optic atrophy, ... OMIM:500001
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... OMIM:618848
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Scapular winging, Generalized dystoni... OMIM:614298
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Abnormality of retinal pigmentation, Ataxia, Tremor, Hemiplegia/hemipare... ORPHA:96
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Segawa Syndrome, Autosomal Recessive
Axial hypotonia, Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor... OMIM:605407
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:619733
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Dysphagia, Choreoa... OMIM:606159
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Calf muscle hypoplasia, Increased variability in muscle fiber diam... ORPHA:488650
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Hypotonia, Myoclonus, Compulsive behaviors OMIM:159900
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum
Babinski sign, Unsteady gait, Spastic paraplegia, Tip-toe gait, Dystonia OMIM:615030
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Lower limb spasticity, Broad-based gait, Ataxia, Retinal dystrophy, Inability to w... OMIM:616756
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Central... OMIM:254110
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia OMIM:141500
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Cerebellar atrophy, Severe muscular hypotonia, Oculogyric crisis, Inability to walk, Chorea, Hypo... OMIM:614254
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Involuntary movements, Inability to walk, Hypotonia, Self-injurious behavior, Dystonia, Spasticit... OMIM:617820
Nemaline Myopathy 2
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... OMIM:256030
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tande... OMIM:619028
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... OMIM:617672
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Hypotonia, Increased ... OMIM:613204
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration, Ataxia, Generalized hypotonia ORPHA:85334
Spinocerebellar Ataxia Type 28
Limb dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, H... ORPHA:101109
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Hypotonia, Subcortical cerebral atrophy, Hypertonia, Abn... ORPHA:33445
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Broad-based gait, Atrophy/Degeneration affecting the brainstem, Hypotonia, Ha... OMIM:617862
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Cerebral palsy, Aggressive behavior, Corpus callosum atrophy, Unsteady gait, Phoni... OMIM:301107
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... OMIM:601954
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar atrophy, Broad-based gait, Ataxia, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, C... OMIM:616127
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Ataxia, Dysmetria, Dysphagia, Spastic dysarthria, Abnormal mitochondria in mu... ORPHA:313772
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Abnormality of the dorsal column of the spinal cord, Impaired distal proprioception, Tremor, Flex... ORPHA:137898
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Chorea, Unste... ORPHA:79263
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Hypotonia, Athetosis... ORPHA:382
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Distal amy... OMIM:618387
Dystonia 17, Torsion, Autosomal Recessive
Torticollis, Focal dystonia OMIM:612406
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Stxbp1-Related Encephalopathy
Hyperactivity, Ataxia, Tremor, Inability to walk, Hypotonia, Spastic tetraplegia, Dystonia, Spast... ORPHA:599373
Striatonigral Degeneration, Infantile
Dystonia, Optic atrophy, Choreoathetosis, Dysphagia, Spasticity OMIM:271930
Huntington Disease-Like 2
Caudate atrophy, Involuntary movements, Parkinsonism, Chorea, Gait disturbance, Dystonia, Cerebra... ORPHA:98934
Spinocerebellar Ataxia 28
Cerebellar atrophy, Somatic sensory dysfunction, Parkinsonism, Ragged-red muscle fibers, Babinski... OMIM:610246
Progressive Myoclonic Epilepsy With Dystonia
Diffuse cerebral atrophy, Abnormal pyramidal sign, Optic atrophy, Hemiparesis, Abnormality of ext... ORPHA:352596
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... OMIM:615957
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Severe muscular hypotonia, Involuntary movements, Tongue fasciculations,... ORPHA:238329
Leukodystrophy, Hypomyelinating, 21
Cerebellar atrophy, Hypogonadotropic hypogonadism, Ataxia, Corpus callosum atrophy, Cryptorchidis... OMIM:619310
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Cln5 Disease
Cerebellar atrophy, Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, ... ORPHA:228360
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Lower limb spasticity, Episodic ataxia, Ataxia, Hypotonia, Truncal ataxia, Gait ataxia, Gait dist... OMIM:614458
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Optic atrophy, Cerebral ... ORPHA:329284
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Hsd10 Disease, Infantile Type
Restlessness, Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Optic atrophy, H... ORPHA:391428
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Huntington Disease
Caudate atrophy, Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Clumsiness, Gai... ORPHA:399
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Slurred speech, Truncal ataxia, Dysmetria, Limb ataxia, Ankle clonus, Progres... ORPHA:284289
Atypical Juvenile Parkinsonism
Resting tremor, Dystonia, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal ... ORPHA:391411
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Involuntary movements, Dystonia OMIM:620245
Developmental And Epileptic Encephalopathy 16
Severe muscular hypotonia, Optic atrophy, Hypotonia, Cerebral atrophy, Hemiparesis, Abnormality o... OMIM:615338
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Chorea, Loss of ambulation, Ataxia, Clumsiness, Athetosis, Gait disturbance, Myoclonus, Craniofac... OMIM:617282
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Oculomotor aprax... OMIM:208920
Myoclonus, Intractable, Neonatal
Optic disc pallor, Chorea, Hypotonia, Athetosis, Myoclonus, Dysphagia, Increased variability in m... OMIM:617235
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Autosomal Recessive Spastic Paraplegia Type 26
Lower limb spasticity, Skeletal muscle atrophy, Premature ovarian insufficiency, Babinski sign, P... ORPHA:101006
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Axial hypotonia, Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls ORPHA:494526
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Myopathy,... OMIM:125250
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, D... OMIM:618317
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Incoordination, Ataxia, Episodic generalized hypotonia, Optic atrophy, Hypotonia, Dysmetria, Gait... OMIM:601338
Atypical Rett Syndrome
Tremor, Gait ataxia, Loss of ambulation, Restrictive behavior, Tongue thrusting, Abnormal muscle ... ORPHA:3095
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Hypotonia, Limb dystonia OMIM:620270
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebellar atrophy, Scapular winging, Ataxia, Facial palsy, Abnormal retinal morphology, Hand mus... ORPHA:254886
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Diaminopentanuria
Neurodegeneration, Spasticity, Ataxia OMIM:222350
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Restlessness, Ataxia, Spastic tetraplegia, Tetraparesis, Dystonia, Infantile muscular hypotonia ORPHA:263410
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ataxia, Flexion contracture, Ragged-red muscle fibers, Truncal ataxia, Babinski sign, Optic atrop... OMIM:252011
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Ataxia, Action tremor, Unsteady gait, Hypotonia, Abnormality of extrapyramida... OMIM:302500
Spastic Paraplegia 15, Autosomal Recessive
Lower limb spasticity, Ataxia, Clonus, Spastic paraplegia, Babinski sign, Paraplegia, Macular deg... OMIM:270700
Neurodegeneration With Brain Iron Accumulation 1
Decreased muscle mass, Tremor, Abnormal pyramidal sign, Choreoathetosis, Retinal degeneration, Ey... OMIM:234200
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Spastic ataxia, Dysmetria, Gait ataxia, Spastic dysarthria, Progressive cerebellar ataxia, Dyston... ORPHA:314603
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Impaired pain sensation, Aggressive behavior, Inability to walk, Chor... ORPHA:500180
Ceroid Lipofuscinosis, Neuronal, 6A
Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Hemidystonia-Hemiatrophy Syndrome
Limb dystonia, Babinski sign, Abnormal pyramidal sign, Hemiparesis, Dystonia ORPHA:306741
Leukodystrophy, Hypomyelinating, 2
Axial hypotonia, Dystonia, Facial palsy, Ataxia, Rigidity, Head titubation, Babinski sign, Optic ... OMIM:608804
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Juvenile Huntington Disease
Cerebellar atrophy, Broad-based gait, Hyperactivity, Ataxia, Rigidity, Chorea, Cerebellar vermis ... ORPHA:248111
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Achilles tendon contracture, Unsteady gait, Babinski sign, Op... OMIM:210000
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Flexion contracture, Babinski sign, Limb muscle weakness, Optic atrophy, Distal sensory i... OMIM:609260
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Waddling gait, Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal m... OMIM:617760
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Axial hypotonia, Ataxia, S... OMIM:617710
Multiple Mitochondrial Dysfunctions Syndrome 6
Cerebellar atrophy, Ataxia, Inability to walk, Atrophy/Degeneration affecting the brainstem, Opti... OMIM:617954
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Axial hypotonia, Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia OMIM:619651
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Peroxisome Biogenesis Disorder 8B
Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Brain atroph... OMIM:614877
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Hypogonadism... OMIM:615768
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Un... OMIM:608099
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Hypergonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Dysm... OMIM:617145
Dystonia 31
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin... OMIM:619565
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Skeletal muscle hypertrophy,... ORPHA:99014
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Skeletal muscle atrophy, Progressive distal muscular atrophy, Facial palsy, Spinal muscular atrop... OMIM:159950
Spinocerebellar Ataxia 2
Dysmetria, Generalized hypotonia, Impaired vibratory sensation, Ataxia, Parkinsonism, Distal amyo... OMIM:183090
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy OMIM:603649
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Cryptorchidism, Chorea, Inability to walk, Cerebral atrophy, Gait ataxia, Sel... OMIM:618917
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Choreoathetosis, Tics, Compulsive behaviors, Limb dystonia, Loss of ambul... ORPHA:157850
Mucolipidosis Iv
Cerebellar atrophy, Babinski sign, Optic atrophy, Hypotonia, Spastic tetraplegia, Generalized hyp... OMIM:252650
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Unsteady gait, Slurred speech, Truncal ataxia, Dysmetria, Gait ataxia, Clumsiness, Babinski sign,... ORPHA:453521
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy, Ataxia, Dysphagia, Dystonia ORPHA:1171
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Elbow flexion... OMIM:619470
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, ... OMIM:618093
Spinocerebellar Ataxia, Autosomal Recessive 31
Axial hypotonia, Ataxia, Tremor, Optic atrophy, Bruxism, Dysphagia, Cerebral atrophy, Choreoathet... OMIM:619422
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Dysphagia, Bradykinesia, Dystonia, Hypomimic face OMIM:128235
Oxoglutarate Dehydrogenase Deficiency
Rigidity, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Falls, Generalized amyotrophy, Dystonia OMIM:203740
Parkinsonism-Dystonia 2, Infantile-Onset
Axial hypotonia, Ataxia, Oculogyric crisis, Parkinsonism, Incoordination, Tremor, Hypotonia, Dysd... OMIM:618049
Spastic Paraparesis And Deafness
Tremor, Hypogonadism, Spastic paraparesis OMIM:312910
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia OMIM:125370
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper... OMIM:618218
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Br... ORPHA:210571
Huntington Disease-Like 3
Abnormal head movements, Broad-based gait, Extrapyramidal muscular rigidity, Caudate atrophy, Cho... ORPHA:157946
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Cerebellar atrophy, Ataxia, Inability to walk, Hypotonia, Gait ataxia, Increased variability in m... OMIM:617915
Oliver-Mcfarlane Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Pigmentary retinopathy, Distal amyotrophy, Retinal... OMIM:275400
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnorma... ORPHA:101110
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis, Dysphagia OMIM:118800
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Axial hypotonia, Inability to walk, Chorea, Self-injurious behavior, Dystonia, Stereotypical hand... OMIM:618760
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Ataxia, Abnormal pyramidal sign, Dystonia OMIM:619196
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Ataxia, Cryptorchidism, Pigmentary retinopathy, Hypogonadism, Retinal degeneration ORPHA:3363
Episodic Kinesigenic Dyskinesia 2
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia OMIM:611031
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... OMIM:615362
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Distal amyotrophy, Generalized hypotonia, Type 1 muscle fiber predominance, Incr... OMIM:619042
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Paraparesis, ... OMIM:606693
Blepharonasofacial Malformation Syndrome
Facial palsy, Torsion dystonia OMIM:110050
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Optic atrophy, Spasticity, Cerebral cortical ... OMIM:300983
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Corpus callosum atrophy, Inabilit... ORPHA:168491
Spastic Paraplegia Type 7
Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Ragged-red muscle fibers, Imp... ORPHA:99013
Oculopharyngodistal Myopathy 4
Postural tremor, Autophagic vacuoles, Tremor, Fatty replacement of skeletal muscle, Increased var... OMIM:619790
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... OMIM:615424
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Retinal atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Rigi... OMIM:610127
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Gait disturba... OMIM:600795
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Adult-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Neuromuscular dysphagia, Upper limb muscle w... ORPHA:171442
Childhood-Onset Nemaline Myopathy
Waddling gait, Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized... ORPHA:171439
Neurodevelopmental Disorder With Involuntary Movements
Cerebellar atrophy, Involuntary movements, Chorea, Atrophy/Degeneration affecting the brainstem, ... OMIM:617493
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Axial hypotonia, Ataxia, Macular coloboma, Macular atrophy... OMIM:619260
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Torticollis, Ataxia, Babinski sign, Cerebellar vermis atrophy, Hypotonia, Choreoathetosis, Limb d... OMIM:619054
Autosomal Recessive Spastic Paraplegia Type 11
Ataxia, Parkinsonism, Atrophy of the spinal cord, Inability to walk, Abnormality of pattern visua... ORPHA:2822
Stargardt Disease 3
Macular dystrophy, Macular atrophy, Macular flecks OMIM:600110
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function OMIM:165300
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Hypogonadotropic hypogonadism, Postural tremor, Ataxia, Tremor, Babinski sign... OMIM:607694
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Postural tremor, Ataxia, Parkinsonism, Unsteady gait, Abnormal pyramidal sign... ORPHA:98762
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Ataxia-Telangiectasia-Like Disorder 1
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Hypotonia, Dysmetria, G... OMIM:604391
Alternating Hemiplegia Of Childhood 2
Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Dystonia, Hemiplegia OMIM:614820
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Resting tremor, Cerebellar atrophy, Ataxia, Parkinsonism, Aggressiv... OMIM:617225
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid OMIM:153700
Raynaud-Claes Syndrome
Lower limb spasticity, Aggressive behavior, Hypotonia, Cerebral atrophy, Progressive cerebellar a... OMIM:300114
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... OMIM:620286
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Macular Degeneration, Age-Related, 3
Choroidal neovascularization, Drusen, Distal sensory impairment, Macular degeneration, Distal amy... OMIM:608895
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... OMIM:105550
Friedreich Ataxia
Hand muscle atrophy, Inability to walk, Chorea, Babinski sign, Impaired proprioception, Optic atr... ORPHA:95
Optic Atrophy 11
Hyperactivity, Ataxia, Optic nerve hypoplasia, Cherry red spot of the macula, Gait apraxia, Optic... OMIM:617302
Tremor-Ataxia-Central Hypomyelination Syndrome
Hypogonadotropic hypogonadism, Postural tremor, Ataxia, Impaired distal proprioception, Babinski ... ORPHA:447896
Congenital Myopathy 10A, Severe Variant
Facial palsy, Camptodactyly of finger, Diaphragmatic paralysis, Hypotonia, Increased variability ... OMIM:614399
Oculorenocerebellar Syndrome
Choreoathetosis, Spastic diplegia, Retinal degeneration OMIM:257970
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Hand tremor, G... OMIM:157640
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Hypotonia, Bruxism, Cerebral atrophy, Choreoathetosis, Hyperkinetic movements,... OMIM:618497
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Hypotonia, Dysphagia, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Paucity of anterior horn motor n... OMIM:611890
Primary Lateral Sclerosis, Juvenile
Appendicular spasticity, Spastic tetraparesis, Babinski sign, Spastic dysarthria, Pseudobulbar pa... OMIM:606353
Mitochondrial Complex I Deficiency, Nuclear Type 26
Cerebellar atrophy, Dysphagia, Cerebral atrophy, Choreoathetosis, Distal amyotrophy, Dystonia, Ro... OMIM:618247
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Dysphagia, Abnormal upper motor neuron m... OMIM:611637
Late-Infantile/Juvenile Krabbe Disease
Tremor, Neuromuscular dysphagia, Upper limb muscle weakness, Loss of ambulation, Ataxia, Clumsine... ORPHA:206443
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Severe temper tantrums, Hemidystonia, Spastic tetraparesis, Abnormal pyramidal sign, Optic atroph... OMIM:619052
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Dysphagia, Hyperto... OMIM:619738
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... OMIM:600363
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... ORPHA:397946
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Axial hypotonia, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, O... OMIM:612716
Hypermanganesemia With Dystonia 2
Tremor, Scissor gait, Opisthotonus, Limb dystonia, Parkinsonism, Clumsiness, Gait disturbance, Hy... OMIM:617013
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Cerebellar atrophy, Torticollis, Head titubation, Abnormal pyramidal sign, Hypotonia, Truncal ata... OMIM:617560
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di... ORPHA:314632
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Distal lower limb amyotrophy, Ce... ORPHA:276244
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Tremor, Distal upper limb amyotrop... ORPHA:101075
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Torticollis, Hypergonadotropic hypogonadism, Azoospermia, Head trem... OMIM:613724
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Skeletal muscle atrophy, Restless legs, Hand muscle weakness, Impaired propr... ORPHA:101085
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Cerebellar atrophy, Facial hypotonia, Babinski sign, Hypotonia, Spastic dysarthria... ORPHA:280763
Congenital Myopathy 6 With Ophthalmoplegia
Waddling gait, Scapular winging, Muscle fiber inclusion bodies, Dysphagia, Myopathy, Congenital c... OMIM:605637
Hsd10 Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Dysphagia, Choreoathetosis, Frontotemporal cerebral atro... ORPHA:391417
Leukodystrophy, Hypomyelinating, 16
Optic disc pallor, Broad-based gait, Abnormal pyramidal sign, Hypotonia, Dysmetria, Gait ataxia, ... OMIM:617964
Leukodystrophy, Hypomyelinating, 18
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Flexion contracture, Babinski s... OMIM:618404
4H Leukodystrophy
Cerebellar atrophy, Hypogonadotropic hypogonadism, Ataxia, Tremor, Optic atrophy, Dysmetria, Dysp... ORPHA:289494
Mitochondrial Complex I Deficiency, Nuclear Type 17
Skeletal muscle atrophy, Generalized dystonia, Ataxia, Rigidity, Hypotonia, Gait disturbance, Dys... OMIM:618239
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Hypomimic face, Bradykinesi... OMIM:615528
Mitochondrial Complex I Deficiency, Nuclear Type 16
Caudate atrophy, Optic atrophy, Spastic tetraplegia, Choreoathetosis, Aplasia of the left hemidia... OMIM:618238
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Flexion contracture, Choreoathetosis, Male hypogonadism, Wrist flexion contracture, Ataxi... OMIM:300055
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Axial hypotonia, Oculogyric crisis, Parkinsonism, Bradykinesia, Hypertonia, Gen... OMIM:617384
Machado-Joseph Disease Type 1
Distal lower limb amyotrophy, Skeletal muscle atrophy, Cerebellar atrophy, Facial-lingual fascicu... ORPHA:276238
Machado-Joseph Disease Type 2
Distal lower limb amyotrophy, Skeletal muscle atrophy, Cerebellar atrophy, Facial-lingual fascicu... ORPHA:276241
Mohr-Tranebjaerg Syndrome
Caudate atrophy, Generalized dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramid... ORPHA:52368
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Hypotonia, Spastic tetraplegi... OMIM:256600
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Huntington Disease-Like 1
Cerebellar atrophy, Abnormal head movements, Restlessness, Incoordination, Involuntary movements,... ORPHA:157941
Leukodystrophy, Hypomyelinating, 14
Cerebellar atrophy, Cerebral atrophy, Generalized hypotonia, Dystonia, Spasticity OMIM:617899
Spastic Paraplegia 87, Autosomal Recessive
Lower limb spasticity, Babinski sign, Upper limb spasticity, Dystonia, Spastic gait OMIM:619966
Spinocerebellar Ataxia With Epilepsy
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Myopathy, Progressive cerebellar ataxia, Dysdiadoc... ORPHA:254881
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Axial hypotonia, Ataxia, Tremor, Rigidity, Optic atrophy, Hypotonia, Choreoat... OMIM:612438
Machado-Joseph Disease
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Parkinsonism, Facial-lingual fasciculat... OMIM:109150
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Primary amenorrhea, Dysmetria, Limb ataxia, Distal sensory imp... OMIM:617675
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Skeletal muscle atrophy, Axial hypotonia, Opisthotonus, Hypertonia, Retinal degeneration OMIM:616896
Myasthenic Syndrome, Congenital, 14
Waddling gait, Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w... OMIM:616228
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Postural tremor, Oculogyric crisis, Ataxia, Parkinsonism, Rigidity, Babinsk... ORPHA:101150
Spinocerebellar Ataxia Type 11
Abnormal pyramidal sign, Dysphagia, Progressive cerebellar ataxia, Gait imbalance, Difficulty wal... ORPHA:98767
Dyskinesia, Limb And Orofacial, Infantile-Onset
Axial hypotonia, Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent f... OMIM:616921
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Aceruloplasminemia
Torticollis, Ataxia, Chorea, Cogwheel rigidity, Blepharospasm, Abnormality of extrapyramidal moto... OMIM:604290
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Optic disc pallor, Ataxia, Facial palsy, Aggressive behavior, Tremor, Hy... ORPHA:97229
Monomelic Amyotrophy
Degeneration of anterior horn cells, Distal upper limb amyotrophy, Tremor, Fasciculations ORPHA:65684
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Generalized dystonia, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertoni... OMIM:618824
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Axial hypotonia, Tremor, Myoclonus, Dystonia, Frequent falls OMIM:619647
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Axial hypotonia, Involuntary movements, Chorea, Hypotonia, Paroxysmal dyskinesia,... OMIM:606703
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, Myoclonus, Difficulty walking, Dystonia, Spasticity OMIM:617829
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Hypotonia, Dysmetria, Loss of ambulation OMIM:617917
Peroxisomal Acyl-Coa Oxidase Deficiency
Babinski sign, Optic atrophy, Hypotonia, Dysphagia, Pigmentary retinopathy, Hypertonia, Dystonia,... OMIM:264470
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Hypotonia, Knee flexion contracture, ... OMIM:616313
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Hyperactivity, Tremor, Rigidity, Inability to walk, Hypotonia, Dysmetria, Gai... OMIM:618090
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Poor motor coordination, Parkinsonism, Cerebral atrophy, C... ORPHA:79264
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Foxg1 Syndrome
Optic disc hypoplasia, Inability to walk, Hypotonia, Bruxism, Choreoathetosis, Hyperkinetic movem... ORPHA:561854
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypotonia, Hyp... OMIM:612736
Mitochondrial Complex I Deficiency, Nuclear Type 23
Skeletal muscle atrophy, Hypotonia, Generalized hypotonia, Dystonia OMIM:618244
Spinocerebellar Ataxia, Autosomal Recessive 21
Skeletal muscle atrophy, Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensor... OMIM:616719
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Ce... ORPHA:309246
Bethlem Myopathy 2
Scapular winging, Flexion contracture, Hypotonia, Myopathy, Generalized hypotonia, Increased vari... OMIM:616471
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Paroxysmal dystonia, Writer's cramp ORPHA:163727
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ataxia, Ragged-red muscle fibers, Rhabdomyolysis, Choreoathetosis, Generalized hypotonia, Dystoni... OMIM:618416
Pyruvate Dehydrogenase E2 Deficiency
Speech apraxia, Paroxysmal dystonia, Broad-based gait, Babinski sign, Hypertonia, Gait disturbanc... ORPHA:79244
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Cerebral atrop... OMIM:300894
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... ORPHA:71277
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Restlessness, Ataxia, Oculogyric crisis, Clonus, Rigidity, Chorea, Hypotonia, Dysphagia, Opisthot... ORPHA:13
Developmental And Epileptic Encephalopathy 7
Hypotonia, Spastic tetraparesis, Dystonia OMIM:613720
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Distal amyotrophy, Ataxia, Generalized hypotonia OMIM:619099
Corticobasal Syndrome
Limb dystonia, Speech apraxia, Somatic sensory dysfunction, Parkinsonism, Limb apraxia, Involunta... ORPHA:454887
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Axial hypotonia, Spastic tetraplegia, Dystonia OMIM:251280
Ataxia-Telangiectasia-Like Disorder
Cerebellar atrophy, Hypergonadotropic hypogonadism, Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdi... ORPHA:251347
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Axial hypotonia, Abnormality of the musculature of the lowe... ORPHA:464282
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Hypertriglyceridemia, Ataxia, Poor motor coordination, Caudate atrophy, Tremor, Ab... ORPHA:363400
Brain Dopamine-Serotonin Vesicular Transport Disease
Axial hypotonia, Dystonia, Oculogyric crisis, Spastic tetraparesis, Ataxia, Tremor, Parkinsonism,... ORPHA:352649
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... OMIM:607459
Epilepsy, Progressive Myoclonic 7
Tremor, Cerebellar atrophy, Ataxia, Myoclonus OMIM:616187
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Axial hypotonia, Facial palsy, Rigidity, Truncal titubation, Chorea, Inability to walk, Abnormal ... OMIM:607483
Spastic Paraplegia 80, Autosomal Dominant
Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Bradykinesia, Upper limb s... OMIM:618418
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Hypotonia, Progressive cerebellar ataxia, My... ORPHA:139485
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Torticollis, Ataxia ORPHA:71518
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Paroxysmal Kinesigenic Dyskinesia
Involuntary movements, Writer's cramp, Chorea, Athetosis, Dystonia ORPHA:98809
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Loss of ambulation, Increased variability in muscle fiber diameter, Flexion contracture, Muscle f... OMIM:300717
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Hypotonia, Stereotypical hand wringing OMIM:619561
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Choroidal neovascularization, Spastic tetraparesis, Cryptorchidism, Macular degeneration, Syringo... ORPHA:404451
3-Methylglutaconic Aciduria, Type I
Ataxia, Optic atrophy, Spastic tetraplegia, Cerebral atrophy, Athetosis, Dystonia, Spasticity, Se... OMIM:250950
Morm Syndrome
Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior, Hypotonia ORPHA:75858
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... OMIM:160565
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ... ORPHA:35689
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Flexion contracture, Optic atrophy, Spastic tetraplegia, Myopathy, Generalize... OMIM:618237
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Hypomimic f... ORPHA:247234
Epilepsy, Nocturnal Frontal Lobe, 4
Dystonia OMIM:610353
Infantile Dystonia-Parkinsonism
Axial hypotonia, Cerebral palsy, Oculogyric crisis, Parkinsonism, Chorea, Abnormal pyramidal sign... ORPHA:238455
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... OMIM:619566
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Broad-based gait, Ataxia, Impulsivity, Inability to walk, Paraparesis, Oro... OMIM:617854
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Congenital diaphragmatic hernia, Retinal telangiectasia, Gait ataxia, Neurode... ORPHA:438134
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Spina bifida, Chorioretinal degeneration OMIM:311000
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Parkinsonism, Action tremor, Rigidity, Babinski sign, Slurred speech, Cerebra... OMIM:300423
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Babinski sign, Disinhibition, Dysphagia, ... OMIM:612069
Familial Dyskinesia And Facial Myokymia
Resting tremor, Axial hypotonia, Dystonia, Chorea, Myoclonus, Difficulty walking, Facial myokymia... ORPHA:324588
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S... OMIM:606777
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... OMIM:618654
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Z-band streaming, Dysphagia, Calf muscle hypertrophy,... OMIM:619178
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ataxia, Tremor, Cerebral atrophy, Dysphagia, Weakness of facial musculature OMIM:618637
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Skeletal muscle atrophy, Foot joint contracture, Cryptorchidism, Inability to walk, Optic atrophy... ORPHA:457205
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebellar atrophy, Ataxia, Head titubation, Dysesthesia, Abnormal pyramidal sign, Cerebral atrop... ORPHA:527497
Urocanase Deficiency
Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Aceruloplasminemia
Abnormality of retinal pigmentation, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Ak... ORPHA:48818
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Generalized hypotonia, Dystonia, Difficulty walk... ORPHA:306669
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Falls, Dystonia, Parkinsonism with favor... ORPHA:240085
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Waddling gait, Unsteady gait, Myopathy, Limb-girdle muscular dystrophy, Increased variability in ... OMIM:612937
Huntington Disease-Like 3
Caudate atrophy, Ataxia, Chorea, Flexion contracture, Unsteady gait, Abnormal pyramidal sign, Abn... OMIM:604802
Oculopharyngodistal Myopathy 2
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... OMIM:618940
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Waddling gait, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased... ORPHA:86812
Intellectual Developmental Disorder, Autosomal Recessive 58
Axial hypotonia, Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious beh... OMIM:617270
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Limb ataxia, Ge... OMIM:213200
Christianson Syndrome
Cerebellar atrophy, Decreased muscle mass, Dystonia, Dysphagia, Gait ataxia, Inappropriate laught... ORPHA:85278
Autosomal Recessive Spastic Paraplegia Type 78
Cerebellar atrophy, Skeletal muscle atrophy, Dystonia, Babinski sign, Abnormal pyramidal sign, Pr... ORPHA:513436
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Hypotonia, Generalized hypotonia... OMIM:620265
3-Methylglutaconic Aciduria Type 1
Progressive cerebellar ataxia, Spastic tetraparesis, Dystonia ORPHA:67046
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Impaired temperature sensation, Impaired pain sensation, Impaired p... DECIPHER:29
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Neck muscle hypertrophy, Unstead... ORPHA:420492
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... OMIM:618129
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Frequent falls, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion... ORPHA:75840
Alternating Hemiplegia Of Childhood 1
Choreoathetosis, Episodic hemiplegia, Episodic quadriplegia, Dystonia OMIM:104290
Leukodystrophy, Hypomyelinating, 15
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Optic atrophy, Dysphagia, Cerebral atrophy, ... OMIM:617951
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit... OMIM:312080
Spinocerebellar Ataxia 21
Cerebellar atrophy, Postural tremor, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Impulsi... OMIM:607454
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... OMIM:620386
Paroxysmal Nonkinesigenic Dyskinesia 2
Paroxysmal dystonia OMIM:611147
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cram... OMIM:128100
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Axonal degeneration, Hand tremor, Proximal amyotrophy, Degeneration of anterior h... OMIM:604484
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Skeletal muscle atrophy, Foot dorsiflexor weakness, Diaphragmatic paralysis, Axonal degeneration,... OMIM:620011
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Flexion contrac... ORPHA:2590
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Waddling gait, Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Increased var... ORPHA:1878
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c... ORPHA:98757
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Generalized hypotonia, Dystonia OMIM:616763
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Generalized dystonia, Ataxia, Oculomotor apraxia, Hypotonia, Choreoathetosis... OMIM:245348
Spastic Paraplegia 53, Autosomal Recessive
Impaired vibratory sensation, Clonus, Spastic paraplegia, Lower limb hypertonia, Gait disturbance... OMIM:614898
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Tremor, Gait disturbance ORPHA:101078
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Retinitis Pigmentosa Inversa With Deafness
Rod-cone dystrophy, Retinitis pigmentosa inversa OMIM:268010
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Dystonia, Paralysis, Athetosis, Dysphagia OMIM:300857
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata... ORPHA:53583
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Flexion contracture, Macu... OMIM:270200
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Ataxia, Spastic paraplegia, Poor gross motor coordination, Spastic tetraplegia, Unsteady gait, Op... OMIM:245349
Dystonia 15, Myoclonic
Myoclonus, Writer's cramp, Dystonia OMIM:607488
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Hyperactivity, Impulsivity, Chorea, Babinski sign, Optic atrophy, Dysmetria, ... OMIM:610217
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... OMIM:618138
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Broad-based gait, Frequent falls,... ORPHA:353
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Muscular dystrophy, Loss of ambulation, Increased variability in muscle ... OMIM:253601
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Increased variability in muscle fiber diameter, Frequent falls, Muscle fiber... OMIM:300718
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Somatic sensory dysfunction, Tremor, Increased variability in muscle fiber dia... ORPHA:502423
Hyperphenylalaninemia, Bh4-Deficient, A
Axial hypotonia, Ataxia, Parkinsonism, Tremor, Rigidity, Dysphagia, Choreoathetosis, Bradykinesia... OMIM:261640
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... OMIM:619725
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Abnormality of retinal pigmentation, Ataxia, Hemiplegia/hemiparesis, Rag... ORPHA:480
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Ataxia, Tremor, Flexion contracture, Babinski sign, Hypotonia, Dysmetria, Gai... OMIM:616505
Developmental And Epileptic Encephalopathy 27
Axial hypotonia, Chorea, Hypotonia, Myoclonus, Dystonia, Spasticity OMIM:616139
Pontocerebellar Hypoplasia, Type 9
Axial hypotonia, Facial hypotonia, Clonus, Optic atrophy, Dysphagia, Macroglossia, Hypertonia, Dy... OMIM:615809
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... OMIM:300696
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis,... OMIM:610185
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Hypogonadism, Retinal degeneration OMIM:615993
Neurodevelopmental Disorder With Dystonia And Seizures
Cerebellar atrophy, Chorea, Spastic tetraplegia, Hypotonia, Athetosis, Self-injurious behavior, D... OMIM:619922
Adrenoleukodystrophy
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Impotence, Hypogona... OMIM:300100
Harel-Yoon Syndrome
Cerebellar atrophy, Axial hypotonia, Ataxia, Inability to walk, Optic atrophy, Hypotonia, Distal ... OMIM:617183
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebellar atrophy, Optic disc pallor, Ataxia, Inability to walk, Abnormality of pattern visual e... ORPHA:1947
Torsion Dystonia With Onset In Infancy
Torsion dystonia OMIM:602554
Allan-Herndon-Dudley Syndrome
Skeletal muscle atrophy, Axial hypotonia, Ataxia, Cryptorchidism, Flexion contracture, Abnormal p... ORPHA:59
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Hypogonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Optic... OMIM:614381
Dystonia 35, Childhood-Onset
Dystonia OMIM:619921
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Axial hypotonia, Generalized dystonia, Parkinsonism, Spastic tetraparesis, Inability to walk, Opi... OMIM:619653
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Axial hypotonia, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Myoclonu... OMIM:612016
Choreoacanthocytosis
Skeletal muscle atrophy, Self-mutilation of tongue and lips due to involuntary movements, Caudate... OMIM:200150
Amyotrophic Lateral Sclerosis 8
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign,... OMIM:608627
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Ataxia, Retinal dystrophy, Tremor, Oculomotor apraxia, Unsteady gait, Dysmetr... OMIM:614867
Developmental And Epileptic Encephalopathy 28
Axial hypotonia, Rigidity, Optic atrophy, Cerebral atrophy, Spasticity, Retinal degeneration OMIM:616211
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Mitochondrial Membrane Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Babinski sign, Optic atrophy, Hand tremor, Dysphagia, Bradykinesia, Gait ... ORPHA:289560
Leukodystrophy, Hypomyelinating, 9
Lower limb spasticity, Axial hypotonia, Ataxia, Babinski sign, Dysmetria, Cerebral atrophy, Pseud... OMIM:616140
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Hypotonia, Dysmetria, Gait ataxia, ... OMIM:617810
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Distal sensory impairment, Upper limb muscle weakness, Distal amyotrophy, Steppage g... OMIM:302802
Classic Galactosemia
Male infertility, Speech apraxia, Premature ovarian insufficiency, Postural tremor, Ataxia, Incoo... ORPHA:79239
X-Linked Charcot-Marie-Tooth Disease Type 2
Distal lower limb amyotrophy, Optic disc pallor, Clasp-knife sign, Tibialis anterior muscle atrop... ORPHA:101076
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements, Chorea, Involuntary movements OMIM:616939
Developmental And Epileptic Encephalopathy 67
Cerebellar atrophy, Athetosis, Gait disturbance, Dystonia, Recurrent hand flapping OMIM:618141
Primary Dystonia, Dyt21 Type
Axial dystonia, Paroxysmal dystonia, Torticollis, Generalized dystonia, Limb dystonia, Focal dyst... ORPHA:306734
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Hypotonia, Truncal ataxia, Ga... OMIM:618877
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Mitochondrial Complex I Deficiency, Nuclear Type 3
Ataxia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Generalized hypoto... OMIM:618224
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet... OMIM:606070
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Ataxia, Retinal dystrophy, Head titubation, Hypotonia, Oculomotor apraxia ORPHA:370022
Developmental And Epileptic Encephalopathy 6B
Axial hypotonia, Ataxia, Inability to walk, Chorea, Hypotonia, Choreoathetosis, Hyperkinetic move... OMIM:619317
Charcot-Marie-Tooth Disease And Deafness
Thenar muscle atrophy, Tremor, Thenar muscle weakness, Distal sensory impairment, Distal amyotrop... OMIM:118300
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... OMIM:603689
Alg6-Cdg
Ataxia, Hypotonia, Macroglossia, Rod-cone dystrophy, Retinal degeneration ORPHA:79320
Developmental And Epileptic Encephalopathy 17
Inability to walk, Chorea, Cerebral atrophy, Athetosis, Dystonia OMIM:615473
Aicardi-Goutieres Syndrome 2
Spastic paraplegia, Cerebral atrophy, Dystonia OMIM:610181
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Hypertriglyceridemia, Ataxia, Tendon xanthomatosis, Impaired proprioception, ... OMIM:277460
Alpha-Methylacyl-Coa Racemase Deficiency
Hypergonadotropic hypogonadism, Ataxia, Tremor, Hemiparesis, Pigmentary retinopathy, Spasticity, ... OMIM:614307
Huntington Disease-Like 2
Rigidity, Chorea, Bradykinesia, Dystonia, Cerebral cortical atrophy, Action tremor OMIM:606438
Autosomal Dominant Spastic Paraplegia Type 9B
Postural tremor, Atrophy of the spinal cord, Babinski sign, Elbow flexion contracture, Hypotonia,... ORPHA:447757
Hyperphenylalaninemia, Bh4-Deficient, B
Severe muscular hypotonia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Hyperkinetic movements, ... OMIM:233910
Infantile Convulsions And Choreoathetosis
Involuntary movements, Chorea, Choreoathetosis, Athetosis, Dystonia, Paroxysmal dyskinesia ORPHA:31709
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Diffuse cerebral atrophy, Ataxia, Slurred speech, Dystonia OMIM:230650
Congenital Myopathy 14
Hip contracture, Flexion contracture, Elbow flexion contracture, Hypotonia, Increased variability... OMIM:618414
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Hyperactivity, Axial hypotonia, Ataxia, Spastic tetraparesis, Impulsivity, Fl... ORPHA:35069
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Writer's cramp, Hand tremor, Myoclonus OMIM:608105
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Pontocerebellar Hypoplasia, Type 2C
Chorea, Dystonia OMIM:612390
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Dysmetria, Lower limb hypertonia, Pseudo... ORPHA:438114
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Generalized hypotonia, Dystonia OMIM:617836
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7
Hypotonia, Brain atrophy, Dystonia OMIM:620359
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, D... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, D... OMIM:616437
Neuroferritinopathy
Resting tremor, Caudate atrophy, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Bab... ORPHA:157846
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Clonus, Impaired proprioception, Upper limb hypertonia, Limb dystonia ORPHA:319199
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Choreoathetosis, Spasticity, Axial hypotonia, Dystonia OMIM:614249
Dystonia 9
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia OMIM:601042
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Skeletal m... OMIM:602124
Ataxia-Oculomotor Apraxia Type 4
Somatic sensory dysfunction, Progressive distal muscular atrophy, Ataxia, Muscular dystrophy, Dys... ORPHA:459033
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Folinic Acid-Responsive Seizures
Cerebellar atrophy, Broad-based gait, Ataxia, Spastic tetraparesis, Chorea, Optic atrophy, Fronto... ORPHA:79097
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, Upper limb muscle weakn... ORPHA:466768
Krabbe Disease
Abnormal flash visual evoked potentials, Diffuse cerebral atrophy, Axial hypotonia, Optic atrophy... OMIM:245200
Congenital Myopathy 10B, Mild Variant
Axial hypotonia, Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contrac... OMIM:620249
Congenital Myopathy 15
Waddling gait, Fatty replacement of skeletal muscle, Vocal cord paralysis, Hypotonia, Increased v... OMIM:620161
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Hypotonia, Dysphagia, Choreoathetos... OMIM:617664
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy OMIM:610381
Mitochondrial Complex I Deficiency, Nuclear Type 5
Cerebellar atrophy, Axial hypotonia, Ataxia, Babinski sign, Optic atrophy, Hypotonia, Dysphagia, ... OMIM:618226
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Inability to walk, Hypotonia... OMIM:617066
Charcot-Marie-Tooth Disease, Type 4K
Skeletal muscle atrophy, Ataxia, Difficulty walking, Dystonia OMIM:616684
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebellar atrophy, Abnormal pyramidal sign, Optic atrophy, Cerebral atrophy, Tetraplegia, Dystonia OMIM:300475
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Abnormal moto... ORPHA:52430
Parkinson Disease 14, Autosomal Recessive
Tremor, Hand tremor, Loss of ambulation, Eyelid apraxia, Parkinsonism, Clumsiness, Global brain a... OMIM:612953
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Alpers-Huttenlocher Syndrome
Ataxia, Paraparesis, Hypotonia, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic parap... ORPHA:726
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Optic atrophy, Rod-cone dystrophy, Retinal degeneration, Reduced sperm m... OMIM:602271
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Premature ovarian insufficiency, Po... OMIM:300623
Myopathy, Distal, Tateyama Type
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... OMIM:614321
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Gait disturbance OMIM:611808
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py... OMIM:602099
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Tremor, Impaired temperature sensation, Impaired pain... OMIM:619574
Tay-Sachs Disease
Skeletal muscle atrophy, Tremor, Dysmetria, Decerebrate rigidity, Generalized hypotonia, Progress... ORPHA:845
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Postural tremor, Ataxia, Babinski sign, Abnormal pyramidal sign, Dys... ORPHA:64753
Spastic Paraplegia 47, Autosomal Recessive
Waddling gait, Inability to walk, Spastic paraplegia, Flexion contracture, Babinski sign, Hyperto... OMIM:614066
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Aggressive behavior, Tremor, Limb ataxia, Hand tremor, Gait ataxia,... ORPHA:98764
Combined Oxidative Phosphorylation Deficiency 13
Skeletal muscle atrophy, Axial hypotonia, Severe muscular hypotonia, Choreoathetosis, Dystonia OMIM:614932
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Axial hypotonia, Ataxia, Flexion contracture, Hypotonia, Falls, Generalized hypotonia, Dystonia, ... OMIM:619224
Manganese Poisoning
Decreased female libido, Postural tremor, Akinesia, Aggressive behavior, Hypersexuality, Cogwheel... ORPHA:306682
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Lower limb spasticity, Skeletal muscle atrophy, Cerebellar atrophy,... ORPHA:88644
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Dystonia OMIM:612126
Primary Dystonia, Dyt6 Type
Limb dystonia, Torticollis, Generalized dystonia, Blepharospasm, Dystonia, Lingual dystonia, Lary... ORPHA:98806
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Tremor, Inability to walk, Distal sensory impairment, Upper limb mus... ORPHA:90117
Developmental And Epileptic Encephalopathy 44
Cerebellar atrophy, Axial hypotonia, Cerebral atrophy, Athetosis, Dystonia, Spasticity OMIM:617132
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Bruxism, Self-injurious behavior, Brain atrophy, Infant... OMIM:618718
Spastic Ataxia 3, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dystonia, Loss of ambulation,... OMIM:611390
Fatty Acid Hydroxylase-Associated Neurodegeneration
Cerebellar atrophy, Generalized dystonia, Atrophy of the spinal cord, Progressive spastic parapar... ORPHA:329308
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal... ORPHA:1145
Spinocerebellar Ataxia Type 8
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Rigidity, Unsteady gait, Limb ataxia, G... ORPHA:98760
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Spinocerebellar Ataxia 42
Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babin... OMIM:616795
Bardet-Biedl Syndrome 4
Cryptorchidism, Rod-cone dystrophy, Hypogonadism, Retinal degeneration OMIM:615982
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Hand muscle atrophy, Distal lower limb amyotrophy, Writer's cramp, Camptodactyly of finger, Peron... ORPHA:324442
Myopathy With Extrapyramidal Signs
Hyperactivity, Ataxia, Clonus, Tremor, Chorea, Optic atrophy, Hypotonia, Clumsiness, Choreoatheto... OMIM:615673
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Self-mutil... OMIM:616269
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Spastic Paraplegia 9B, Autosomal Recessive
Skeletal muscle atrophy, Tremor, Corpus callosum atrophy, Spastic paraplegia, Impaired distal vib... OMIM:616586
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Leber Optic Atrophy
Postural tremor, Ataxia, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atro... OMIM:535000
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... OMIM:616852
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Myopathy, Hypertonia, Dystonia, Infantile muscular hypotonia ORPHA:26792
Autosomal Dominant Optic Atrophy Plus Syndrome
Ataxia, Limb-girdle muscle weakness, Spastic paraplegia, Optic atrophy, Myopathy, Abnormal retina... ORPHA:1215
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... ORPHA:227510
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Axial hypotonia, Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, ... OMIM:614831
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi... OMIM:253700
Pelizaeus-Merzbacher Disease, Classic Form
Axial hypotonia, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Hypotonia, Dystonic gait,... ORPHA:280219
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia OMIM:605909
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign,... OMIM:606002
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... OMIM:620310
O'Sullivan-Mcleod Syndrome
Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Hand muscle weak... ORPHA:99965
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Axial hypotonia, Ataxia, Involuntary movements, Choreoathetosis, Dystonia, Spasticity, Limb hyper... OMIM:615905
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Hypotonia, Dystonia ORPHA:139406
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Incoordination, Ataxia, Clonus, Optic atrophy, Hypotonia, Tetraplegia, Cerebr... OMIM:616034
Developmental And Epileptic Encephalopathy 53
Hypotonia, Spastic tetraplegia, Dystonia OMIM:617389
Mitochondrial Complex I Deficiency, Nuclear Type 8
Axial dystonia, Optic disc pallor, Dystonia, Tetraparesis, Generalized hypotonia, Dysphagia OMIM:618230
Developmental And Epileptic Encephalopathy 1
Axial hypotonia, Spastic tetraparesis, Abnormal pyramidal sign, Dysphagia, Choreoathetosis, Hyper... OMIM:308350
Episodic Ataxia, Type 9
Episodic ataxia, Dystonia OMIM:618924
Spinocerebellar Ataxia Type 6
Incoordination, Unsteady gait, Babinski sign, Dysphagia, Gait ataxia, Blepharospasm, Progressive ... ORPHA:98758
Sialidosis Type 2
Skeletal muscle atrophy, Ataxia, Tremor, Flexion contracture, Generalized hypotonia, Umbilical he... ORPHA:87876
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Macular degenerati... OMIM:619780
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Axial hypotonia, Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Hypomimic fac... ORPHA:70594
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Hypotonia, Incr... OMIM:620246
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Leukoencephalopathy, Cystic, Without Megalencephaly
Athetosis, Spasticity, Ataxia, Dystonia OMIM:612951
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Hypotonia, Retinal degeneration OMIM:617173
Dystonia 28
Torticollis, Generalized dystonia, Abnormal pyramidal sign, Leg dystonia, Arm dystonia, Attention... ORPHA:589618
Congenital Myopathy 3 With Rigid Spine
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Hypotonia, Increas... OMIM:602771
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Impulsivity, Tremor, Abnormal pyramidal sign, Neuromuscul... ORPHA:240071
Sulfite Oxidase Deficiency, Isolated
Axial hypotonia, Generalized dystonia, Ataxia, Cerebral atrophy, Choreoathetosis, Hypertonia, Agi... OMIM:272300
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, Hypotonia, ... OMIM:616239
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Gait disturbance, Dystonia, Spasticity ORPHA:542310
Developmental And Epileptic Encephalopathy 51
Cerebellar atrophy, Skeletal muscle atrophy, Corpus callosum atrophy, Inability to walk, Babinski... OMIM:617339
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Generalized neonatal... OMIM:300580
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
X-Linked Centronuclear Myopathy
Severe muscular hypotonia, Centrally nucleated skeletal muscle fibers, Weakness of facial muscula... ORPHA:596
Familial Paroxysmal Ataxia
Torticollis, Ataxia, Dystonia, Hemiplegia, Cerebellar vermis atrophy ORPHA:97
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus, Generalized hypot... OMIM:619092
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Facial hypotonia, Optic atrophy, Hypotonia, Gait ataxia, Difficulty walking, Dy... OMIM:617807
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc... OMIM:605355
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Corpus callosum atrophy, Babinski sign, Abnormal pyramidal sign, Hypotonia, L... OMIM:248500
Myoclonic-Atonic Epilepsy
Ataxia, Tremor, Hypotonia, Eyelid myoclonus, Attention deficit hyperactivity disorder OMIM:616421
16P11.2P12.2 Microduplication Syndrome
Attention deficit hyperactivity disorder, Dystonia ORPHA:261204
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Distal amyotrophy, Dysphagia, Distal sensory impairment OMIM:607734
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ataxia, Head titubation, Hypotonia, Dysmetria, Truncal ataxia, Myoclonus, Dystonia OMIM:250620
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Ataxia, Truncal titubation, Rod-cone dystrophy, Abnormal... ORPHA:88628
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:602066
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Poor motor coordination, Tremor, Hypotonia,... ORPHA:1170
Mitochondrial Myopathy With Lactic Acidosis
Hypotonia, Dysmetria, Tip-toe gait, Dystonia, Spasticity OMIM:251950
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility, Centrally nucleated skeletal muscle fibers, ... OMIM:619518
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Inability to walk, Chorea, Hypotonia, Bruxism, Hemiparesis, Self-injurious b... OMIM:618004
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Dystonia, Infantile axial hypotonia, Parkinsonism, Chorea, Babinski sign, Dysphag... ORPHA:225147
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Cryptorchidism, Flexion contracture, Hypotonia, Incre... OMIM:618484
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... ORPHA:101
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... OMIM:608807
Partington Syndrome
Lower limb spasticity, Flexion contracture, Focal dystonia, Limb dystonia, Camptodactyly OMIM:309510
Rhabdomyolysis, Susceptibility To, 1
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... OMIM:620235
Combined Oxidative Phosphorylation Deficiency 31
Hypotonia, Hypertonia, Left ventricular noncompaction, Increased intramyocellular lipid droplets,... OMIM:617228
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Abnormal pyramidal sign, Hypotonia, Spastic diplegia, Macula... ORPHA:816
Poretti-Boltshauser Syndrome
Retinal atrophy, Retinal dystrophy, Retinal thinning, Hypotonia, Generalized hypotonia, Oculomoto... OMIM:615960
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Unsteady gait, Retinal degeneration OMIM:520000
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Severe muscular hypotonia, Spinal muscular atrophy, Flexion contracture,... OMIM:616867
Pontocerebellar Hypoplasia, Type 2A
Restlessness, Chorea, Optic atrophy, Dysphagia, Opisthotonus, Congenital contracture, Extrapyrami... OMIM:277470
Pelizaeus-Merzbacher Disease
Ataxia, Optic atrophy, Hypotonia, Choreoathetosis, Gait disturbance, Dystonia, Abnormality of vis... ORPHA:702
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Corpus callosum atrophy, Spa... OMIM:601162
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Spastic tetraplegia, Dystonia OMIM:618646
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Primary Dystonia, Dyt4 Type
Torticollis, Generalized dystonia, Involuntary movements, Upper limb postural tremor, Blepharospa... ORPHA:98805
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... OMIM:617114
Alzheimer Disease 3
Spastic tetraparesis, Babinski sign, Dysphagia, Gait disturbance, Myoclonus, Abnormality of extra... OMIM:607822
Pontocerebellar Hypoplasia, Type 2B
Cerebellar atrophy, Axial hypotonia, Clonus, Chorea, Babinski sign, Hypotonia, Dysphagia, Opistho... OMIM:612389
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Hypotonia, Inc... OMIM:255320
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Ataxia, Cryptorchidism, Optic atrophy, Retinal degeneration OMIM:249270
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Generalized dystonia, Postural tremor, Progressive flexion contractures, Ataxia, Par... ORPHA:98808
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Generalized hypotonia, Truncal ataxia OMIM:618587
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Decreased fertility, Calf muscle hypertrophy, Fasciculations, Dysphagia, Limb muscle weak... OMIM:313200
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Cerebellar atrophy, Dystonia, Clonus, Babinski sign, Optic atrophy, Progressive cerebellar ataxia... OMIM:618868
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Generalized dystonia, Inability to walk, Rod-cone dystrophy, Opisthotonus, Pig... ORPHA:216866
Hypotonia, Infantile, With Psychomotor Retardation
Severe muscular hypotonia, Cryptorchidism, Myopathy, Neonatal hypotonia, Increased variability in... OMIM:616816
Ataxia-Oculomotor Apraxia 4
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Atrophy/Degeneration affecting the brai... OMIM:616267
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Fatty replacement of skeletal muscle, Vocal cord paralysis, Myopathy, Dysphagia, Increase... ORPHA:397744
Ovarian Dysgenesis 3
Primary amenorrhea, Female infertility OMIM:614324
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Incoordination, Hyperactivity, Paralysis, Aggressive behavior, Parap... ORPHA:43
Spinocerebellar Ataxia 50
Cerebellar atrophy, Ataxia, Postural tremor, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... OMIM:620158
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Paralysis, Chorea, Abnormal ... OMIM:272750
Canavan Disease
Abnormality of retinal pigmentation, Flexion contracture, Optic atrophy, Hypotonia, Hypertonia, A... ORPHA:141
Rett Syndrome
Skeletal muscle atrophy, Dystonia, Gait apraxia, Bruxism, Gait ataxia, Truncal ataxia, Spasticity... OMIM:312750
Leukodystrophy, Hypomyelinating, 20
Cerebellar atrophy, Torticollis, Babinski sign, Spastic tetraplegia, Hypertonia, Dystonia OMIM:619071
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Cerebral atrophy, Compu... OMIM:619405
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Hypotonia, Cerebral atrophy, Choreoathetosis, Myoclonus, Generalized hypotonia, Dystonia,... OMIM:312170
Mohr-Tranebjaerg Syndrome
Dystonia, Tremor, Intrinsic hand muscle atrophy, Dysphagia, Spasticity OMIM:304700
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p... ORPHA:98902
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Aggressive behavior, Hypotonia, Attention deficit hyperactivity disorder, Dystonia OMIM:619157
Autosomal Recessive Spastic Paraplegia Type 77
Paroxysmal dystonia, Lower limb spasticity, Axial hypotonia, Weakness due to upper motor neuron d... ORPHA:466722
Hereditary Methemoglobinemia
Cerebellar atrophy, Spastic tetraplegia, Temporal cortical atrophy, Athetosis, Hypertonia, Fronta... ORPHA:621
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Impaired proprioception, Dysmetria,... ORPHA:99027
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... OMIM:612999
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Ataxia, Steatorrhea, Hypocholesterolemia, Rod-cone dystrophy, Retinal degen... OMIM:615558
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Dystonia, Atrophy/Degeneration affecting the brainstem, Hypotonia, Brain atrophy, Generalized hyp... OMIM:616277
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Irregular menstruation, Polydipsia, Rod-cone dystrophy, ... OMIM:615986
Aicardi-Goutieres Syndrome 3
Spasticity, Hypotonia, Generalized hypotonia, Dystonia OMIM:610329
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:98933
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
Liang-Wang Syndrome
Cerebellar atrophy, Axial hypotonia, Ataxia, Cerebral atrophy, Macroglossia, Dystonia OMIM:618729
Pontocerebellar Hypoplasia, Type 14
Hypotonia, Hypertonia, Spastic tetraplegia, Dystonia OMIM:619301
Cerebrotendinous Xanthomatosis
Axonal degeneration, Abnormal pyramidal sign, Ataxia, Parkinsonism, Distal amyotrophy, Gait distu... ORPHA:909
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Agitatio... ORPHA:803
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... OMIM:602433
Dilated Cardiomyopathy With Ataxia
Lower limb spasticity, Ataxia, Bilateral cryptorchidism, Repetitive compulsive behavior, Atrophy/... ORPHA:66634
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Acute rhabdomyolysis, Clonus, Oral-pharyngeal dysphagia, Rhabdomyolysis, Poor coordinatio... OMIM:616878
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Ataxia, Hypotonia, Myoclonus, Dystonia, Spasticity OMIM:620094
Coenzyme Q10 Deficiency, Primary, 5
Cerebellar atrophy, Hypotonia, Cerebral atrophy, Hypertonia, Generalized hypotonia, Dystonia, Lef... OMIM:614654
Refsum Disease, Classic
Somatic sensory dysfunction, Ataxia, Limb muscle weakness, Rod-cone dystrophy, Retinal degeneration OMIM:266500
Joubert Syndrome 6
Ataxia, Hypotonia, Chorioretinal coloboma, Oculomotor apraxia, Abnormal repetitive mannerisms, Re... OMIM:610688
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Vocal cord paresis, Optic disc pallor, Optic atrophy, Distal sensory impairment, Distal amyotroph... OMIM:601152
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia OMIM:619724
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Cerebellar atrophy, Inability to walk, Optic atrophy, Hypotonia, Abnormality of extrapyramidal mo... OMIM:614739
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter OMIM:611615
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Combined Oxidative Phosphorylation Deficiency 35
Optic disc hypoplasia, Cerebral atrophy, Generalized hypotonia, Dystonia, Spasticity OMIM:617873
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation OMIM:614018
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Pro... ORPHA:247815
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Combined Oxidative Phosphorylation Defect Type 13
Hip contracture, Axial hypotonia, Ankle flexion contracture, Choreoathetosis, Lower limb hyperton... ORPHA:319514
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Aggressive behavior, Babinski sign, Cerebral atrophy, Inappropriate behavior, Ga... OMIM:221770
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Impaired distal proprioception, Ragged-red muscle fibers, Gait atax... ORPHA:70595
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Axial hypotonia, Ataxia, Inability to walk, Dysmetria, Dystonia, Oculomotor apraxia, Spasticity, ... OMIM:618087
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... ORPHA:240094
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Impaired distal proprioception, Impaired distal vibration sensation, Unstead... OMIM:601455
Siddiqi Syndrome
Flexion contracture, Lower limb amyotrophy, Limb dystonia OMIM:618635
Oromandibular Dystonia
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Blepharospasm, Hyperkinetic movements, Lim... ORPHA:93958
Leukodystrophy, Hypomyelinating, 25
Gait ataxia, Hypotonia, Dystonia OMIM:620243
Bilateral Generalized Polymicrogyria
Axial hypotonia, Oculogyric crisis, Oral-pharyngeal dysphagia, Spastic tetraplegia, Eyelid myoclo... ORPHA:208447
Pontocerebellar Hypoplasia, Type 15
Hypotonia, Hypertonia, Spastic tetraplegia, Dystonia OMIM:619302
Episodic Ataxia Type 4
Abnormal head movements, Frequent falls, Incoordination, Ataxia ORPHA:79136
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, ... ORPHA:209335
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Pontoc... OMIM:618060
Continuous Spikes And Waves During Sleep
Speech apraxia, Aggressive behavior, Clumsiness, Hyperkinetic movements, Dystonia ORPHA:725
Macular Dystrophy, Vitelliform, 3
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... OMIM:608161
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Optic disc pallor, Hypergonadotropic hypogonadism, Tremor, Hypoesth... OMIM:619737
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Hypogonadism, Retinal degeneration OMIM:615981
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebellar atrophy, Axial hypotonia, Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Ge... OMIM:616875
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Poor coordinat... OMIM:615994
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:611705
Developmental And Epileptic Encephalopathy 42
Ataxia, Tremor, Flexion contracture, Athetosis, Hypertonia, Generalized hypotonia OMIM:617106
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia... OMIM:137440
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... OMIM:616108
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Generalized hypotonia, Difficu... ORPHA:529665
Gaucher Disease Type 2
Spasticity, Flexion contracture, Dysphagia, Dystonia ORPHA:77260
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Flexion contracture, Muscle fiber necrosis... OMIM:254090
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Hypotonia, Cerebral atrophy, Self-injurious behavior, Generalized hypotonia, Dystonia, Recurrent ... OMIM:617268
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Pallidal degeneration, Dystonia, Dysphagia, Spasticity, Rod-cone dystrophy OMIM:607236
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Diffuse cerebral atrophy, Hypergonadotropic hypogonadism, Ataxia, Tremor, Rag... OMIM:607426
Spinocerebellar Ataxia 8
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... OMIM:608768
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Metachromatic Leukodystrophy, Late Infantile Form
Babinski sign, Optic atrophy, Gait ataxia, Clumsiness, Progressive gait ataxia, Tip-toe gait, Dec... ORPHA:309256
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... OMIM:619911
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Isolated Atp Synthase Deficiency
Cerebellar atrophy, Ataxia, Spastic paraplegia, Optic atrophy, Hypotonia, Tetraplegia, Hypogonadi... ORPHA:254913
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ambulation, Rigidity, Dystonia OMIM:615010
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Hypotonia, Bradykinesia, Poor fine motor coordination, Generalize... ORPHA:36387
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Abnormal eating behavior, Tremor, Poor coordination, Hypotonia, Obsessive-compulsive trai... ORPHA:544254
Hengel-Maroofian-Schols Syndrome
Cerebellar atrophy, Foot joint contracture, Inability to walk, Hypotonia, Tetraplegia, Cerebral a... OMIM:619641
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Cryptorchidism, Limb mus... ORPHA:486815
Developmental And Epileptic Encephalopathy 3
Hypotonia, Cerebral atrophy, Brain atrophy, Neonatal hypotonia, Spasticity, Abnormality of visual... OMIM:609304
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Axial dystonia, Increased variability in muscle fiber diameter, Spastic paraplegia, Flexion contr... OMIM:619026
Leigh Syndrome
Ataxia, Optic atrophy, Hypotonia, Pigmentary retinopathy, Generalized hypotonia, Dystonia, Spasti... OMIM:256000
Autosomal Recessive Spastic Paraplegia Type 35
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus cal... ORPHA:171629
Cap Myopathy
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Tip-toe gait, Generalized ... ORPHA:171881
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Dysphagia, Brady... OMIM:615530
Progressive Supranuclear Palsy
Impulsivity, Tremor, Rigidity, Unsteady gait, Dysphagia, Blepharospasm, Bradykinesia, Falls, Dyst... ORPHA:683
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Skeletal muscle atrophy, Loss of ability to walk in early childhood, Inability to walk, Hypotonia... OMIM:612073
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Resting tremor, Broad-based gait, Hyperactivity, Parkinsonism, Anorexia, A... ORPHA:3077
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Ataxia, Aggressive behavior, Tremor, Spastic tetraplegia, Dysmetria, Dysphagi... ORPHA:572798
Congenital Disorder Of Glycosylation, Type Ie
Ataxia, Ankle flexion contracture, Tremor, Optic atrophy, Hypotonia, Knee flexion contracture, Po... OMIM:608799
Spinocerebellar Ataxia Type 7
Cerebellar atrophy, Restless legs, Somatic sensory dysfunction, Cone/cone-rod dystrophy, Ataxia, ... ORPHA:94147
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Tremor, Fatty ... ORPHA:329478
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Hyperactivity, Aggressive behavior, Tremor, Cryptorchidism, Hypoton... OMIM:300354
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity OMIM:616494
Congenital Myopathy 4A, Autosomal Dominant
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Type 1 fibers r... OMIM:255310
Baralle-Macken Syndrome
Inability to walk, Dystonia, Neonatal hypotonia, Spasticity, Global brain atrophy OMIM:619255
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu... OMIM:617406
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Hypotonia, Cerebral atrophy, Myopathy, Brain atrophy, Limb dystonia, Increase... OMIM:604377
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Axial hypotonia, Generalized dystonia, Ataxia, Aggressive behavior, Chorea, Spastic tetraplegia, ... OMIM:618321
Nephronophthisis 15
Retinal degeneration OMIM:614845
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Axial hypotonia, Cerebral palsy, Chorea, Babinski sign, Choreoathetosis, Hypertonia, Dystonia, Sp... OMIM:618451
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Metachromatic Leukodystrophy, Juvenile Form
Babinski sign, Optic atrophy, Clumsiness, Progressive gait ataxia, Decerebrate rigidity, Generali... ORPHA:309263
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers OMIM:618992
Leukoencephalopathy With Ataxia
Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Limb ataxia, Gait ataxia, ... OMIM:615651
Developmental And Epileptic Encephalopathy 86
Generalized amyotrophy, Generalized hypotonia, Dystonia OMIM:618910
Glutaryl-Coa Dehydrogenase Deficiency
Pallidal degeneration, Dystonia, Severe muscular hypotonia, Ataxia, Poor motor coordination, Trem... ORPHA:25
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Autosomal Recessive Spastic Paraplegia Type 44
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Difficulty walking, Abnormality of vi... ORPHA:320401
Combined Oxidative Phosphorylation Deficiency 50
Generalized dystonia, Dysphagia OMIM:619025
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Abetalipoproteinemia
Retinopathy, Ataxia, Retinal degeneration OMIM:200100
Developmental And Epileptic Encephalopathy 38
Axial hypotonia, Ataxia, Retinal dystrophy, Limb hypertonia, Dystonia, Attenuation of retinal blo... OMIM:617020
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Kaya-Barakat-Masson Syndrome
Cerebellar atrophy, Axial hypotonia, Spastic tetraplegia, Cerebral atrophy, Generalized hypotonia... OMIM:619125
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Optic atrophy, Tetraplegia, Dysphagia, Fasci... ORPHA:496641
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hemiplegia/hemiparesis, Chorea, Optic atrophy, Hypotonia, Choreoathetosis, Dystonia ORPHA:289916
Leukodystrophy, Progressive, Early Childhood-Onset
Appendicular spasticity, Optic disc pallor, Axial hypotonia, Cerebral atrophy, Dystonia, Joint co... OMIM:617762
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Cryptorchidism, Chorea, Generalized hypotonia, Dystonia, Spasticity OMIM:613970
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Generalized hypotonia, ... OMIM:616811
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Choreoathetosis, Gait disturb... ORPHA:765
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... OMIM:618195
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Oral-pharyngeal dysphagia, Babinski sign, Choreoathetosis, Viral infection-i... ORPHA:2524
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Generalized dystonia, Ataxia, Inability to walk, Chorea, Hypotonia, Generalized hypotonia, Dyspha... ORPHA:70472
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Hypotonia, Myoclonus OMIM:616366
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Restlessness, Torticollis, Ataxia, Tremor, Myelopathy, Rigidity, Hypotonia, Cervical myelopathy, ... OMIM:617186
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Rett Syndrome
Skeletal muscle atrophy, Limb apraxia, Inability to walk, Stereotypical hand wringing, Bradykines... ORPHA:778
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Waddling gait, Speech apraxia, Cerebellar atrophy, Ataxia, Tremor, Inability to walk, Chorea, Hyp... OMIM:615356
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Impaired pain sensation, Cryptorchidism, Bulimia, Hypotonia, Agitation, Genera... ORPHA:314389
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Optic atrophy, Hypotonia, D... OMIM:617988
Developmental And Epileptic Encephalopathy 46
Axial hypotonia, Tremor, Cerebral atrophy, Dysphagia, Limb hypertonia OMIM:617162
Cimdag Syndrome
Ataxia, Retinal dystrophy, Chorea, Hypotonia, Cerebral atrophy, Pontocerebellar atrophy, Hypogona... OMIM:619273
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia OMIM:224500
Caribbean Parkinsonism
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive... ORPHA:97355
Scheie Syndrome
Retinal degeneration, Cervical cord compression OMIM:607016
Idiopathic Camptocormia
Myositis, Amyotrophic lateral sclerosis, Parkinsonism, Fatty replacement of skeletal muscle, Abno... ORPHA:1320
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Elbow flexion contracture, Hypotonia, Increased variability in muscle ... OMIM:619461
Multiple System Atrophy 1, Susceptibility To
Skeletal muscle atrophy, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Imp... OMIM:146500
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... OMIM:614302
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Progressive extrapyramidal movement disorder, Focal dystonia, C... ORPHA:199351
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... OMIM:613157
Dihydrolipoamide Dehydrogenase Deficiency
Ataxia, Hypotonia, Dystonia OMIM:246900
Episodic Ataxia, Type 2
Progressive cerebellar ataxia, Paresthesia, Dystonia, Episodic ataxia, Cerebellar vermis atrophy OMIM:108500
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617072
Typical Nemaline Myopathy
Waddling gait, Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variabil... ORPHA:171436
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Waddling gait, Broad-based gait, Calf muscle hypertrophy, Myopathy, Difficulty walking, Pelvic gi... ORPHA:119
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Axial hypotonia, Severe muscular hypotonia, Hypotonia, Myoclonus, Type 1 muscle fiber predominanc... OMIM:612949
Combined Oxidative Phosphorylation Deficiency 27
Cerebellar atrophy, Severe muscular hypotonia, Chorea, Hypotonia, Cerebral atrophy, Opisthotonus,... OMIM:616672
Multiple Sulfatase Deficiency
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neonatal hypotonia, Spasticity, Retinal degeneration OMIM:272200
Metachromatic Leukodystrophy, Adult Form
Chorea, Babinski sign, Optic atrophy, Clumsiness, Progressive spastic quadriplegia, Progressive g... ORPHA:309271
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Congenital Myopathy 22A, Classic
Waddling gait, Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Ach... OMIM:620351
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Incoordination, Ataxia, Acute rhabdomyolysis, Clonus, Involuntary movements, Babinski sign, Optic... ORPHA:480864
Gm1 Gangliosidosis
Generalized dystonia, Ataxia, Camptodactyly of finger, Tremor, Abnormal retinal vascular morpholo... ORPHA:354
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Poor coordination, Axonal degeneration, Abnormal muscle tone, Neurodegeneration... ORPHA:478029
Choreoacanthocytosis
Caudate atrophy, Peroneal muscle atrophy, Chorea, Hypertonia, Compulsive behaviors, Limb dystonia... ORPHA:2388
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Axial hypotonia, Spastic tetraparesis, Hypotonia, Dystonia, Cerebral cortical atrophy OMIM:617668
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Axial hypotonia, Exaggerated startle response, Oculogyric crisis, Babinski sign, Ton... OMIM:608643
Pparg-Related Familial Partial Lipodystrophy
Calf muscle pseudohypertrophy, Hypertriglyceridemia, Dysmenorrhea, Abnormality of skeletal muscle... ORPHA:79083
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Tremor, Distal sensory impairment, Abnormality of the calf musculatu... ORPHA:206594
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis ORPHA:140989
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Hypotonia, Truncal ataxia, Joint contracture of the 5th finger, Generalized hypotonia, Dystonia, ... OMIM:614407
Intellectual Developmental Disorder, Autosomal Dominant 43
Hyperactivity, Ataxia, Impulsivity, Aggressive behavior, Hypotonia, Dystonia, Umbilical hernia, F... OMIM:616977
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Dysphagia, Bradykinesia, Gait disturbance, Myoclonus, Shu... OMIM:168601
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Alg3-Cdg
Spastic tetraparesis, Hypotonia, Neural tube defect, Macroglossia, Hypertonia, Subcortical cerebr... ORPHA:79321
Metachromatic Leukodystrophy
Ataxia, Chorea, Babinski sign, Optic atrophy, Hypotonia, Spastic tetraplegia, Tetraplegia, Gait d... OMIM:250100
Rasmussen Subacute Encephalitis
Hyperactivity, Involuntary movements, Hemidystonia, Inability to walk, Hemiparesis, Subcortical c... ORPHA:1929
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Optic atrophy, Hypotonia, Choreoathetosis, Dystonia ORPHA:79312
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Axial hypotonia, Cryptorchidism, Flexion contractur... OMIM:214150
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Lipoyltransferase 1 Deficiency
Cerebellar atrophy, Axial hypotonia, Spastic tetraparesis, Hypotonia, Abnormality of extrapyramid... OMIM:616299
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:613660
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Dysphagia, Bradykinesia, Dystonia, Neuronal loss ... OMIM:168600
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... OMIM:226670
Cerebral Visual Impairment
Optic disc pallor, Cerebral palsy, Optic nerve hypoplasia, Optic atrophy, Clumsiness, Central ner... ORPHA:447788
Sialidosis Type 1
Skeletal muscle atrophy, Ataxia, Tremor, Slurred speech, Hypotonia, Gait disturbance, Myoclonus, ... ORPHA:812
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia OMIM:616398
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Appendicular spasticity, Axial hypotonia, Dystonia, Optic atrophy, Hypoplastic optic chiasm, Myoc... OMIM:617669
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Spastic hemiparesis, Hypotonia, Spastic tetraplegia, Dystonia, Spasticity OMIM:619616
Hypermanganesemia With Dystonia 1
Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage gait, Abnorm... OMIM:613280
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Oral-pharyngeal dysphagia, Tremor, Spastic diplegia, Generalized hypotonia, Dystonia ORPHA:480907
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Hypotonia OMIM:613752
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Impaired distal proprioception ORPHA:231445
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Head titubation, Cryptorchidism, Hypotonia, Truncal ataxia ORPHA:88639
Combined Oxidative Phosphorylation Defect Type 39
Lower limb spasticity, Optic disc pallor, Involuntary movements, Corpus callosum atrophy, Cryptor... ORPHA:565624
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Inappropriate behavior, Disinhibition, Dy... OMIM:168605
Mucopolysaccharidosis Type 3
Flexion contracture, Abnormal pyramidal sign, Hypertonia, Loss of ambulation, Retinal degeneratio... ORPHA:581
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... OMIM:620138
Vitamin B12-Unresponsive Methylmalonic Acidemia
Ataxia, Paraparesis, Optic atrophy, Hypotonia, Choreoathetosis, Tetraparesis ORPHA:27
Wieacker-Wolff Syndrome
Facial palsy, Hypotonia, Cerebral atrophy, Congenital foot contractures, Distal amyotrophy, Gener... OMIM:314580
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Flexion contracture, Neonatal hypotonia, Increased variability in muscle fiber diam... OMIM:616470
Amyotrophic Dystonic Paraplegia
Skeletal muscle atrophy, Spastic paraplegia, Dystonia OMIM:105300
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Facial palsy, Ataxia, Tremor, Distal amyotrophy, Difficulty walking, Dysphag... OMIM:164310
Parkinsonian-Pyramidal Syndrome
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Dysphagia, Bradykinesia, Myoclonu... ORPHA:171695
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Incoordination, Patchy atrophy of the retinal pigment epithelium, Undetectable visual evoked pote... ORPHA:436245
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Cerebellar atrophy, Broad-based gait, Flexion contracture, Abnormal pyramidal sign, Hypotonia, Ge... OMIM:618891
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Impulsivity, Rigidity, Dysphagia, Bradykinesia, Agitation... ORPHA:411602
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Retinal dystrophy, Peripheral retinal atrophy OMIM:615147
Birk-Landau-Perez Syndrome
Axial hypotonia, Facial hypotonia, Optic atrophy, Limb ataxia, Choreoathetosis, Appendicular hypo... OMIM:617595
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral palsy, Clonus, Cryptorchidism, Babinski sign, Spastic tetraplegia, Hypotonia, Opisthoton... OMIM:619847
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Chorea, Hypotonia, Athetosis, Hypertonia, Dystonia, Self-mutilation ORPHA:52503
Dystonia-Aphonia Syndrome
Cerebellar atrophy, Generalized dystonia, Unsteady gait, Cerebral atrophy, Macroglossia, Gait dis... ORPHA:412217
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Abnormal pyramidal sign, Truncal ataxia, Paraplegia, Limb ataxia, Hemiparesis, Am... OMIM:105210
Filippi Syndrome
Cerebellar atrophy, Cryptorchidism, Optic atrophy, Dystonia OMIM:272440
Postencephalitic Parkinsonism
Resting tremor, Oculogyric crisis, Involuntary movements, Akinesia, Rigidity, Babinski sign, Abno... ORPHA:97349
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Ataxia, Tremor, Flexion contracture, Hypotonia, Cerebral atrophy, Opisthotonu... OMIM:616271
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Severe muscular hypotonia, Spinal muscular atrophy, Flexion contracture, Increased variability in... OMIM:616866
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Dysmenorrhea, Abnormality of skeletal muscle fiber size, Secondary amenorrh... ORPHA:2348
Young-Onset Parkinson Disease
Restless legs, Impulsivity, Tremor, Rigidity, Spasticity, Bradykinesia, Male sexual dysfunction, ... ORPHA:2828
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Infantile Krabbe Disease
Lower limb spasticity, Diffuse cerebral atrophy, Optic atrophy, Spastic diplegia, Opisthotonus, A... ORPHA:206436
Friedreich Ataxia
Impaired vibratory sensation, Ataxia, Babinski sign, Impaired proprioception, Optic atrophy, Limb... OMIM:229300
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Axial hypotonia, Vocal cord paralysis, Optic atrophy, Dysphagia, Increased cup-to-disc ratio, Myo... ORPHA:500144
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cryptorchidism, Abnormality of pattern visual evoked potentials, Neonatal hypotonia, Rod-cone dys... ORPHA:166035
Combined Oxidative Phosphorylation Deficiency 39
Cerebellar atrophy, Involuntary movements, Flexion contracture, Babinski sign, Spasticity, Cerebr... OMIM:618397
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti... OMIM:620278
Aicardi-Goutieres Syndrome 4
Cerebellar atrophy, Spasticity, Cerebral atrophy, Dystonia OMIM:610333
Nephronophthisis 14
Retinal degeneration OMIM:614844
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Axial hypotonia, Tremor, Truncal titubation, Dy... OMIM:618056
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Skeletal muscle atrophy, Ataxia ORPHA:1933
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Inability to walk, Flexion contracture, Hypotonia, Cerebral atrophy, Dystonia ORPHA:79243
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Cerebellar atrophy, Ataxia, Involuntary movements, Inability to walk, Chorea, Hypotonia, Bruxism,... OMIM:617804
Poliomyelitis
Skeletal muscle atrophy, Hypoplasia of the musculature, Paralysis, Anorexia, Inability to walk, P... ORPHA:2912
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon ORPHA:75382
Cockayne Syndrome
Skeletal muscle atrophy, Congenital contracture, Hypertonia, Progressive gait ataxia, Retinal art... ORPHA:191
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter OMIM:614096
Partington Syndrome
Macroorchidism, Lower limb spasticity, Gait disturbance, Limb dystonia ORPHA:94083
Trichothiodystrophy
Multiple joint contractures, Cryptorchidism, Paraplegia/paraparesis, Abnormal pyramidal sign, Gai... ORPHA:33364
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Skeletal muscle atrophy, Hypotonia, Dysmetria OMIM:615578
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Hypotonia, Hypertonia, Gait disturbance, Abnormality of visual evoked potentials ORPHA:2971
Proximal 16P11.2 Microdeletion Syndrome
Speech apraxia, Congenital diaphragmatic hernia, Choreoathetosis, Syringomyelia, Attention defici... ORPHA:261197
Niemann-Pick Disease, Type C1
Ataxia, Hypotonia, Dysphagia, Gait ataxia, Generalized hypotonia, Dystonia, Cataplexy, Spasticity... OMIM:257220
Angelman Syndrome
Optic disc pallor, Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inabilit... ORPHA:72
Japanese Encephalitis
Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Weakness due to uppe... ORPHA:79139
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Ataxia, Retinal dystrophy, Tremor, Rhabdomyolysis, Myopathy ORPHA:713
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Spasticity, Retinal telangiectasia, Ataxia, Dystonia OMIM:617341
Supranuclear Palsy, Progressive, 1
Axial dystonia, Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Dysphagia, Granulovacuo... OMIM:601104
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Rhabdomyolysis, Hypotonia, Myopathy, Increased intramyocellular lipid dr... OMIM:255125
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Rigidity, Optic atrophy, Spastic tetraplegia, Neurodegeneration, Inappropriate laughter, ... OMIM:618476
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Ataxia, Retinal dystrophy, Hyperautofluorescent macular ... OMIM:209900
Niemann-Pick Disease Type C
Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Compulsive behaviors, Limb dyst... ORPHA:646
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Axial hypotonia, Retinal dystrophy, Clonus, Spastic tetraparesis, Macular colo... ORPHA:423479
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Ataxia, Congenital diaphragmatic hernia, Unsteady gait, Neurodegeneration, Dy... OMIM:615919
Neuropathy, Congenital Hypomyelinating, 3
Cerebellar atrophy, Limb joint contracture, Flexion contracture, Babinski sign, Facial diplegia, ... OMIM:618186
Wolfram Syndrome 1
Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Dysphagia, Testicular at... OMIM:222300
Polyglucosan Body Neuropathy, Adult Form
Spastic paraplegia, Distal sensory impairment, Gait disturbance, Tetraparesis, Paresthesia, Abnor... OMIM:263570
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Cerebellar atrophy, Ataxia, Head titubation, Optic atrophy, Dysmetria, Knee flexion contracture, ... OMIM:619708
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Oculomotor apraxia, Retinal degeneration OMIM:615630
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Neonatal hypotonia, Flexion contracture, Muscular dystrophy, Retinal degeneration OMIM:615249
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Aggressive behavior, Flexion contracture, Ragged-red muscle fibers, Rhab... ORPHA:17
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Autosomal Dominant Spastic Paraplegia Type 9A
Abnormality of the dorsal column of the spinal cord, Tremor, Corpus callosum atrophy, Babinski si... ORPHA:447753
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Hypotonia, Dysphagia, Cerebral atrophy, Chor... OMIM:615471
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Self-mutilation, Hypotonia, Hyperkinetic movements, Upper limb spasticity, Gait disturban... ORPHA:457240
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Hand muscle weakness, Tremor, Inability to walk, Vocal c... ORPHA:99956
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Optic disc pallor, Ataxia, Hypotonia, Left ventricular noncompaction, Myoclonus, Dystonia, Left v... OMIM:619167
Cerebral Creatine Deficiency Syndrome 1
Speech apraxia, Broad-based gait, Axial hypotonia, Aggressive behavior, Hypotonia, Hypertonia, Ga... OMIM:300352
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Spastic tetraplegia, Brain atrophy, Abnormality of visual evoked potentials, Joint contracture, L... OMIM:614457
Mitochondrial Complex I Deficiency, Nuclear Type 13
Spasticity, Generalized dystonia, Cerebral atrophy OMIM:618235
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia ORPHA:101005
Posttransplant Acute Limbic Encephalitis
Ataxia, Myoclonus, Dystonia ORPHA:163921
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Corpus callosum atrophy, Dystonic gait, Optic atrophy, Cerebral atrophy, Abnormality of visual ev... ORPHA:480898
Metachromatic Leukodystrophy
Dystonia, Ataxia, Incoordination, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, P... ORPHA:512
Leigh Syndrome
Cerebellar atrophy, Skeletal muscle atrophy, Dystonia, Multiple joint contractures, Involuntary m... ORPHA:506
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Optic disc pallor, Tremor, Unsteady gait, Hypotonia, Cerebral atrophy, M... OMIM:615512
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy, Tip-toe gait, Gait disturbance, Abno... ORPHA:83629
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... OMIM:619334
Ogden Syndrome
Abnormal head movements, Torticollis, Cryptorchidism, Cerebral atrophy, Hypertonia, Shuffling gai... ORPHA:276432
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:613464
Developmental And Epileptic Encephalopathy 29
Axial hypotonia, Chorea, Cerebral atrophy, Blepharospasm, Limb dystonia, Spasticity OMIM:616339
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Cerebellar atrophy, Choreoathetosis, Progressive spastic quadriplegia, Nonprogressive cerebellar ... ORPHA:431361
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Cerebellar atrophy, Hypotonia, Cerebral atrophy, Dystonia, Spasticity OMIM:619286
Congenital Bile Acid Synthesis Defect Type 4
Ataxia, Tremor, Rhabdomyolysis, Pigmentary retinopathy, Hypogonadism ORPHA:79095
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Optic disc pallor, Optic atrophy, Dysphagia, Infantile axial hypotonia, Spast... ORPHA:485421
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Hyperactivity, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Dysp... ORPHA:98794
Rett Syndrome, Congenital Variant
Chorea, Tongue thrusting, Bruxism, Athetosis, Generalized hypotonia, Dystonia, Neonatal hypotonia... OMIM:613454
Fragile X Syndrome
Macroorchidism, postpubertal, Abnormal head movements, Hyperactivity, Self-biting, Recurrent hand... OMIM:300624
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Chorea, Ragged-red muscle fibers, Optic atrophy, Dysphagia, Gait ataxia, Pigmentary retin... ORPHA:255210
Marbach-Schaaf Neurodevelopmental Syndrome
Speech apraxia, Torticollis, Hemidystonia, Aggressive behavior, Tremor, Attention deficit hyperac... OMIM:619680
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Brain-Lung-Thyroid Syndrome
Hyperactivity, Incoordination, Ataxia, Involuntary movements, Abnormal eating behavior, Chorea, A... ORPHA:209905
Combined Oxidative Phosphorylation Deficiency 10
Spasticity, Optic atrophy, Hypotonia, Dystonia OMIM:614702
Alternating Hemiplegia Of Childhood
Facial hypotonia, Ataxia, Anorexia, Oral-pharyngeal dysphagia, Tremor, Rigidity, Chorea, Episodic... ORPHA:2131
Developmental And Epileptic Encephalopathy 84
Axial hypotonia, Chorea, Babinski sign, Opisthotonus, Generalized hypotonia, Dystonia, Spasticity OMIM:618792
Dystonia-Deafness Syndrome 1
Generalized dystonia, Oculogyric crisis, Leg dystonia, Pseudobulbar paralysis, Dysphagia, Loss of... OMIM:607371
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Macular coloboma, Atrophy of the spinal cord, Optic atrophy, Hypotonia, Cerebral atrophy,... ORPHA:79282
White-Sutton Syndrome
Waddling gait, Hyperactivity, Facial hypotonia, Optic nerve hypoplasia, Congenital diaphragmatic ... OMIM:616364
Farber Disease
Skeletal muscle atrophy, Paraparesis, Flexion contracture, Macular degeneration, Myoclonus, Brain... ORPHA:333
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Poor fine motor coordination, Hypotonia, Retinal degeneration ORPHA:542306
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... OMIM:602481
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Mcleod Syndrome
Chorea, Rhabdomyolysis, Myopathy, Compulsive behaviors, Dystonia, Impaired vibration sensation at... OMIM:300842
Combined Oxidative Phosphorylation Deficiency 57
Bull's eye maculopathy, Hypotonia, Cerebral atrophy, Myoclonus, Dystonia OMIM:620167
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Ataxia, Abnormal pyramidal sign, Proximal muscle weakness in lower... ORPHA:453533
Developmental And Epileptic Encephalopathy 4
Tremor, Spastic paraplegia, Hypotonia, Spastic tetraplegia, Cerebral atrophy, Choreoathetosis OMIM:612164
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Optic disc pallor, Ataxia, Hypotonia, Generalized hypoton... OMIM:216360
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Torticollis, Optic nerve hypoplasia, Inability to walk, Oculomotor apraxia, Spast... ORPHA:300570
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Limb dystonia, Inability to walk, Self-injurious behavior, Brain atrophy, Infantile muscular hypo... ORPHA:457351
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Clonus, Facial palsy, Tremor, Type 1 fibers relatively smaller than type 2 fibers, Generalized hy... OMIM:619424
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor, Frequent falls, Hypotonia OMIM:617523
Mucopolysaccharidosis Type 2
Papilledema, Hyperactivity, Abnormality of retinal pigmentation, Impulsivity, Aggressive behavior... ORPHA:580
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spastic... OMIM:616840
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Dystonia, Gait disturbance, Agitation, Bruxism, Recurrent hand flapping OMIM:617903
Aicardi-Goutieres Syndrome 9
Axial hypotonia, Spastic tetraparesis, Chorioretinal atrophy, Spastic tetraplegia, Spastic dipleg... OMIM:619487
Micro Syndrome
Abnormality of retinal pigmentation, Cryptorchidism, Optic atrophy, Hypotonia, Retinal coloboma, ... ORPHA:2510
Arachnoid Cyst
Encephalocele, Facial palsy, Spinal cord compression, Inability to walk, Spinal arachnoid cyst, P... ORPHA:2356
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Rigidity, Truncal ataxia, Bradykinesia, Hypomimic face, Poor fine motor coordination, Hypertonia,... ORPHA:309854
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Progressive flexion contractures, Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Ch... ORPHA:522077
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Axial hypotonia, Limb joint contracture, Tremor... OMIM:620327
Supranuclear Palsy, Progressive, 2
Axial dystonia, Eyelid apraxia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Granulovacuola... OMIM:609454
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Cerebral palsy, Generalized dystonia, Spastic tetraparesis, Paraparesis, Dysphagi... OMIM:620358
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea OMIM:110100
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Cerebellar atrophy, Axial hypotonia, Cerebral atrophy, Limb dystonia OMIM:620269
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebellar atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Facial hypotonia, Limb joint cont... ORPHA:404454
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Autosomal Recessive Cutis Laxa Type 2A
Ataxia, Inability to walk, Slurred speech, Hypotonia, Athetosis, Dystonia, Spasticity ORPHA:357058
Cockayne Syndrome A
Cerebellar atrophy, Hip contracture, Retinal atrophy, Ataxia, Tremor, Cryptorchidism, Retinal pig... OMIM:216400
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Jeavons Syndrome
Limb myoclonus, Abnormal head movements ORPHA:139431
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia OMIM:250850
Chediak-Higashi Syndrome
Ataxia, Tremor, Ocular albinism, Gait disturbance, Neurodegeneration, Macular hypoplasia, Foot do... OMIM:214500
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Axial hypotonia... OMIM:619173
Autosomal Dominant Progressive External Ophthalmoplegia
Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Hypertonia, Generalize... ORPHA:254892
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Kcnq2-Related Epileptic Encephalopathy
Inability to walk, Poor gross motor coordination, Hypotonia, Cerebral atrophy, Dystonia ORPHA:439218
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diffuse cerebral atrophy, Axial hypotonia, Head titubation, Vestibular areflexia, Spastic tetrapl... ORPHA:3240
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Unsteady gait, Fl... ORPHA:90324
Mucopolysaccharidosis, Type Ii
Papilledema, Abnormality of retinal pigmentation, Flexion contracture, Macroglossia, Neurodegener... OMIM:309900
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Rigidity, Optic atrophy, Hypotonia, Progressive spastic quadriplegi... ORPHA:521426
Hurler Syndrome
Flexion contracture, Macroglossia, Neurodegeneration, Umbilical hernia, Retinal degeneration OMIM:607014
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Severe muscular hypotonia, Optic atrophy, Hypoplasia of the retina, Muscular dys... OMIM:253280
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... ORPHA:67042
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor, Ataxia, Tremor, Spastic paraplegia, Babinski sign, Dysmetria, Spasticity OMIM:618527
Combined Malonic And Methylmalonic Acidemia
Axial hypotonia, Dystonia ORPHA:289504
Kufor-Rakeb Syndrome
Eyelid apraxia, Oculogyric crisis, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign... ORPHA:306674
Lesch-Nyhan Syndrome
Hypotonia, Dysphagia, Opisthotonus, Choreoathetosis, Self-injurious behavior, Abnormality of extr... OMIM:300322
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials, Hypertonia ORPHA:1389
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, Hypertonia, Tics, Compulsive behaviors, Chorioretinal coloboma, Abnormal repetitive manne... OMIM:619475
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op... ORPHA:352731
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Retinal dystrophy, Hypotonia, Muscular dystrophy, Generalized hypotonia, Increased variability in... OMIM:616538
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Eye poking,... OMIM:613843
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Neurodegeneration, Hypotonia OMIM:620210
Senior-Loken Syndrome 9
Macular degeneration, Retinal dystrophy, Hypogonadism, Rod-cone dystrophy OMIM:616629
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Combined Oxidative Phosphorylation Deficiency 12
Axial hypotonia, Spastic tetraparesis, Ragged-red muscle fibers, Babinski sign, Hypotonia, Bradyk... OMIM:614924
Native American Myopathy
Skeletal muscle atrophy, Cryptorchidism, Abnormality of skeletal muscle fiber size, Inability to ... ORPHA:168572
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Retinal pigment epithelial mottling, Hypotonia, Dystonia OMIM:614105
Ataxia-Telangiectasia
Female hypogonadism, Ataxia, Tremor, Inability to walk, Slurred speech, Abnormal spermatogenesis,... OMIM:208900
Glutaric Acidemia I
Rigidity, Hypotonia, Spastic diplegia, Opisthotonus, Choreoathetosis, Generalized hypotonia, Dyst... OMIM:231670
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Hypotonia, Angioid streaks of the fundus, Retinopathy, Retinal degeneration OMIM:239000
Nabais Sa-De Vries Syndrome, Type 2
Neonatal hypotonia, Chorea, Hemiparesis, Dystonia OMIM:618829
Neurodevelopmental Disorder With Spasticity And Poor Growth
Axial hypotonia, Generalized dystonia, Clonus, Ataxia, Achilles tendon contracture, Babinski sign... OMIM:618076
Maternal Uniparental Disomy Of Chromosome 2
Premature ovarian insufficiency, Bilateral cryptorchidism, Contractures of the large joints, Chor... ORPHA:96179
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Rod-cone dystrophy, Retinal dystrophy, Peripheral retinal degeneration ORPHA:168549
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Broad-based gait, Facial hypotonia, Severe muscular hypotonia, Atax... ORPHA:438216
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Retinal detachment, Retinal atrophy, Severe muscular hypotonia, Optic ne... OMIM:236670
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscle fiber atrophy, Myositis, Absent muscle fiber merosin, Facial palsy, Inability to walk, Fle... ORPHA:258
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Retinal telangiectasia, Tremor, Abnormal pyramidal sign, Optic atrophy, Exudative retinop... OMIM:612199
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Hypotonia, Generalized hypotonia, Dystonia, Cerebral cortical atrophy OMIM:277410
Primary Ciliary Dyskinesia
Male infertility, Rod-cone dystrophy, Abnormal sperm motility, Female infertility ORPHA:244
Joubert Syndrome With Ocular Defect
Encephalocele, Ataxia, Retinal dystrophy, Tremor, Hypotonia, Gait disturbance, Retinal coloboma, ... ORPHA:220493
Combined Oxidative Phosphorylation Deficiency 3
Ataxia, Optic neuropathy, Tremor, Rhabdomyolysis, Optic atrophy, Hypotonia, Generalized hypotonia... OMIM:610505
Filippi Syndrome
Cryptorchidism, Optic atrophy, Hypotonia, Paraplegia, Limb dystonia, Spasticity ORPHA:3255
Say-Barber-Miller Syndrome
Cryptorchidism, Babinski sign, Elbow flexion contracture, Optic atrophy, Knee flexion contracture... ORPHA:3132
Propionic Acidemia
Dystonia, Axial hypotonia, Cerebral atrophy, Limb hypertonia OMIM:606054
Spinal Arteriovenous Metameric Syndrome
Paraparesis, Abnormal spinal cord morphology, Spinal arteriovenous malformation ORPHA:53721
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Blepharospasm, Myoclonus OMIM:607876
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Hemiparesis, Pseudobulbar paralysis, Gait disturbance, Abnormality of visual evoked potentials, N... OMIM:125310
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Broad-based gait, Ataxia, Hypotonia, Choreoathetosis, Generalized hypotonia, Dystonia, Difficulty... OMIM:610978
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating cortisol level, Ataxia, Babinski sign, Optic atrophy, Abnormality of visual... OMIM:231550
Pontocerebellar Hypoplasia, Type 17
Paroxysmal dystonia, Axial hypotonia, Spastic tetraplegia, Dysphagia, Limb hypertonia OMIM:619909
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Aicardi-Goutieres Syndrome 1
Axial hypotonia, Inability to walk, Cerebral atrophy, Abnormality of extrapyramidal motor functio... OMIM:225750
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Diffuse cerebral atrophy, Macroglossia, Abnormality of extrapyramid... ORPHA:79255
Niemann-Pick Disease, Type C2
Ataxia, Hypotonia, Dysphagia, Dystonia, Cataplexy, Spasticity, Abnormal repetitive mannerisms OMIM:607625
Retinitis Pigmentosa 23
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... OMIM:300424
Galloway-Mowat Syndrome 1
Cerebellar atrophy, Axial hypotonia, Ataxia, Optic atrophy, Hypotonia, Spastic tetraplegia, Cereb... OMIM:251300
Blepharonasofacial Malformation Syndrome
Cryptorchidism, Optic atrophy, Torsion dystonia ORPHA:1252
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Abnormality of macular pigmentation ORPHA:1573
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Hyperactivity, Diffuse cerebral atrophy, Tremor, Choreoathetosis, Self-injuri... ORPHA:1934
Developmental And Epileptic Encephalopathy 89
Cerebellar atrophy, Axial hypotonia, Flexion contracture, Cerebral atrophy, Hypertonia, Hyperkine... OMIM:619124
Acute Transverse Myelitis
Impaired vibratory sensation, Somatic sensory dysfunction, Dysesthesia, Dissociated sensory loss,... ORPHA:139417
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Abnormal repetitive mannerisms, Involuntary movements, Attention deficit hyp... ORPHA:98784
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Centrally nucleated skeletal muscle fibers, Flexion contracture, Skeletal m... OMIM:613327
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Bilateral Perisylvian Polymicrogyria
Lower limb spasticity, Paraparesis, Flexion contracture, Oromotor apraxia, Spastic tetraplegia, D... ORPHA:98889
Intellectual Developmental Disorder, Autosomal Dominant 42
Limb dystonia, Cerebral palsy, Aggressive behavior, Inability to walk, Hypotonia, Phonic tics, Dy... OMIM:616973
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar atrophy, Ataxia, Oral-pharyngeal dysphagia, Tremor, Spastic diplegia, Gait disturbance... OMIM:300966
Arthrogryposis Multiplex Congenita 5
Optic disc pallor, Akinesia, Flexion contracture, Elbow flexion contracture, Hand tremor, Hyperto... OMIM:618947
Igg4-Related Pachymeningitis
Somatic sensory dysfunction, Abnormal spinal dura mater morphology, Spinal cord compression, Para... ORPHA:449427
Combined Oxidative Phosphorylation Deficiency 19
Neonatal hypotonia, Increased variability in muscle fiber diameter, Hypotonia OMIM:615595
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Werner Syndrome
Hypertriglyceridemia, Hypogonadism, Retinal degeneration OMIM:277700
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Gabriele-De Vries Syndrome
Waddling gait, Facial hypotonia, Tremor, Cryptorchidism, Hypotonia, Distal arthrogryposis, Tip-to... OMIM:617557
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Spinal cord ... ORPHA:485
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Decreased testicular size, Ataxia, Dystonia OMIM:616113
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Facial palsy, Hypotonia, Generalized hypotonia OMIM:616720
Dpagt1-Cdg
Ataxia, Diffuse optic disc pallor, Akinesia, Aggressive behavior, Tremor, Inability to walk, Flex... ORPHA:86309
Kallmann Syndrome
Dyspareunia, Hypogonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, Decreased fertility, ... ORPHA:478
Fucosidosis
Flexion contracture, Hypotonia, Spastic tetraplegia, Cerebral atrophy, Macroglossia, Dystonia, He... OMIM:230000
Pseudo-Torch Syndrome 1
Axial hypotonia, Hypotonia, Dystonia, Umbilical hernia, Spasticity OMIM:251290
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Aicardi-Goutières Syndrome
Myositis, Extrapyramidal muscular rigidity, Axial hypotonia, Dystonia, Multiple joint contracture... ORPHA:51
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... OMIM:616503
Pyruvate Carboxylase Deficiency
Ataxia, Anorexia, Tremor, Abnormal pyramidal sign, Hypotonia, Tip-toe gait, Generalized hypotonia... ORPHA:3008
Xq21 Microdeletion Syndrome
Ataxia, Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degen... ORPHA:1435
Lethal Congenital Contracture Syndrome 10
Macroglossia, Increased variability in muscle fiber diameter, Torticollis OMIM:617022
Congenital Disorder Of Glycosylation, Type Ii
Generalized hypotonia, Dystonia OMIM:607906
Developmental Malformations-Deafness-Dystonia Syndrome
Macroglossia, Generalized dystonia, Dysphagia ORPHA:79107
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Skeletal muscle atrophy, Arthrogryposis multiplex congeni... OMIM:253310
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Retinal degeneration, Aggressive behavior, Gait ataxia OMIM:618479
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Severe muscular hypotonia, Skeletal muscle hypertrophy, Macroglossia, Congenital c... OMIM:613150
Glycogen Storage Disease Vii
Increased muscle glycogen content, Increased variability in muscle fiber diameter OMIM:232800
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Optic disc pallor, Tethered cord, Ataxia, Cryptorchidism, Inability to walk, Hypotonia, Dystonia OMIM:620083
Mogs-Cdg
Optic atrophy, Hydrocele testis, Dystonia, Abnormality of visual evoked potentials, Left ventricu... ORPHA:79330
Holoprosencephaly
Encephalocele, Congenital diaphragmatic hernia, Cryptorchidism, Chorea, Optic atrophy, Spinal cor... ORPHA:2162
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Hypotonia, Cerebral a... OMIM:203700
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... OMIM:616959
Rift Valley Fever
Retinitis, Anorexia, Paralysis, Paraparesis, Retinal hemorrhage, Macular edema, Hemiparesis, Reti... ORPHA:319251
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
New-Onset Refractory Status Epilepticus
Abnormal head movements, Global brain atrophy ORPHA:363558
Hermansky-Pudlak Syndrome 10
Axial hypotonia, Ocular albinism, Cerebral atrophy, Generalized hypotonia, Dystonia OMIM:617050
Mercury Poisoning
Tremor, Anorexia, Dystonia ORPHA:330021
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Lower limb spasticity, Axial hypotonia, Dystonia, Ataxia, Cerebral palsy, Impulsivity, Hypotonia,... OMIM:619950
Sandifer Syndrome
Abnormal head movements, Torticollis ORPHA:71272
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Retinal degeneration OMIM:250410
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Neonatal hypotonia, Cryptorchidism, Optic atrophy, Dystonia ORPHA:457193
Nmda Receptor Encephalitis
Dystonia, Oculogyric crisis, Involuntary movements, Rigidity, Hypersexuality, Chorea, Opisthotonu... ORPHA:217253
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Skeletal muscle atrophy, Pain insensitivity, Broad-based gait, Ataxia, Hypotonia, Distal sensory ... OMIM:256810
Nephronophthisis 11
Polydipsia, Retinal degeneration OMIM:613550
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Bohring-Opitz Syndrome
Axial hypotonia, Facial hypotonia, Retinal atrophy, Inability to walk, Bilateral wrist flexion co... ORPHA:97297
African Trypanosomiasis
Tremor, Impaired proprioception, Choreoathetosis, Papilledema, Abnormal central motor function, P... ORPHA:3385
Wilson Disease
Limb dystonia, Poor motor coordination, Tremor, Rigidity, Hypoesthesia, Hand tremor, Parkinsonism... OMIM:277900
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Papillorenal Syndrome
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... OMIM:120330
Pseudoxanthoma Elasticum
Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse... OMIM:264800
Lipoid Proteinosis
Dysphagia, Dystonia ORPHA:530
Chromosome 18P Deletion Syndrome
Cryptorchidism, Hypotonia, Dystonia, Decreased testicular size, Hypomimic face OMIM:146390
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Atypical Werner Syndrome
Skeletal muscle atrophy, Abnormality of retinal pigmentation, Premature ovarian insufficiency, Hy... ORPHA:79474
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Childhood Absence Epilepsy
Limb myoclonus, Punding, Jerky head movements, Attention deficit hyperactivity disorder ORPHA:64280
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Slc39A8-Cdg
Cerebellar atrophy, Severe muscular hypotonia, Inability to walk, Elbow flexion contracture, Knee... ORPHA:468699
Mucopolysaccharidosis, Type Vii
Diastasis recti, Flexion contracture, Macroglossia, Neurodegeneration, Umbilical hernia OMIM:253220
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Monosomy 18P
Generalized dystonia, Hypotonia ORPHA:1598
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, H... OMIM:241080
3-Methylglutaconic Aciduria, Type Viii
Clonus, Tremor, Hypotonia, Dysphagia, Cerebral atrophy, Hypertonia, Generalized hypotonia, Dystonia OMIM:617248
Cadds
Cerebellar atrophy, Dystonia ORPHA:369942
Nijmegen Breakage Syndrome
Hyperactivity, Premature ovarian insufficiency, Rhabdomyosarcoma, Retinal pigment epithelial mott... OMIM:251260
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ataxia, Retinal dystrophy, Hypotonia, Macroglossia, Macular degeneration, Umbilical hernia, Rod-c... OMIM:266920
Aicardi-Goutieres Syndrome 7
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Spastic tetraparesis, Hypotonia, Tetr... OMIM:615846
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Pain insensitivity, Broad-based gait, Optic nerve hypoplasia, Aggressive behavior, H... OMIM:620330
Arboleda-Tham Syndrome
Axial hypotonia, Bilateral cryptorchidism, Abnormal repetitive mannerisms, Optic atrophy, Hypoton... OMIM:616268
Glycogen Storage Disease Xii
Myopathy, Hypotonia, Increased variability in muscle fiber diameter, Muscle fiber splitting OMIM:611881
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Cryptorchidism, Spastic tetraplegia, Hypotonia, Hypertonia, Dystonia, Cerebral cortical atrophy OMIM:620024
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypotonia, Ankle clonus, Falls, Difficulty walking, Dystonia OMIM:618222
Cancer-Associated Retinopathy
Optic disc pallor, Retinal pigment epithelial atrophy, Retinal atrophy, Testicular neoplasm, Fove... ORPHA:71505
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Abnormality of extrapyramidal motor function, Self-mutilation, Dystonia ORPHA:79233
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters OMIM:605808
Pseudoxanthoma Elasticum, Forme Fruste
Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus OMIM:177850
Cockayne Syndrome B
Ataxia, Tremor, Cryptorchidism, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Abnormal... OMIM:133540
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy OMIM:616722
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials, Hypoplasia of the fovea, Ocular albinism, Abnormal optic... ORPHA:79431
Ruvalcaba Syndrome
Abnormality of visual evoked potentials, Cryptorchidism ORPHA:3121
Neuroleptic Malignant Syndrome
Extrapyramidal muscular rigidity, Oculogyric crisis, Tremor, Chorea, Rhabdomyolysis, Agitation, D... ORPHA:94093
Primrose Syndrome
Hip contracture, Skeletal muscle atrophy, Restlessness, Hypergonadotropic hypogonadism, Ataxia, A... OMIM:259050
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Limb dystonia, Cerebellar atrophy, Retinal arteriolar tortuosity, Babinski sign, Retinal hemorrha... OMIM:175780
Gabriele-De Vries Syndrome
Distal lower limb amyotrophy, Waddling gait, Facial hypotonia, Oral-pharyngeal dysphagia, Tremor,... ORPHA:506358
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Axial hypotonia, Cerebral palsy, Parkinsonism, Oculogyric crisis, Tremor, Hypertonia ORPHA:1578
Woodhouse-Sakati Syndrome
Streak ovary, Premature ovarian insufficiency, Hyperlipidemia, Abnormal spermatogenesis, Choreoat... ORPHA:3464
Neurofibromatosis, Familial Spinal
Paraparesis, Lower limb muscle weakness OMIM:162210
Hermansky-Pudlak Syndrome
Menometrorrhagia, Anorexia, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visu... ORPHA:79430
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Knobloch Syndrome
Retinal detachment, Occipital encephalocele, Abnormal vitreous humor morphology, Macular degenera... ORPHA:1571
Oculodentodigital Dysplasia
Ataxia, Paraparesis, Joint contracture of the 5th finger, Tetraparesis, Spasticity OMIM:164200
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Retinal degeneration OMIM:208500
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Paget Disease Of Bone 2, Early-Onset
Paraparesis, Tetraparesis OMIM:602080
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ataxia, Tremor, Hypotonia, Dysmetria, Truncal ataxia, Dysphagia, Dystonia, Left ventricular hyper... OMIM:220111
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Cerebellar atrophy, Hypertriglyceridemia, Hypotonia, Jerky head movements, Global brain atrophy ORPHA:369837
Osteopetrosis With Renal Tubular Acidosis
Abnormal retinal morphology, Retinal atrophy, Optic atrophy, Tetraparesis ORPHA:2785
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Broad-based gait, Involuntary movements, Cryptor... ORPHA:438213
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Axial hypotonia, Tetraplegia, Myoclonus, Brain atrophy, Dystonia OMIM:618278
Alport Syndrome
Macular degeneration, Retinal flecks, Dysphagia ORPHA:63
Beta-Ureidopropionase Deficiency
Neonatal hypotonia, Hypotonia, Dystonia OMIM:613161
Alobar Holoprosencephaly
Limb dystonia, Abnormal central motor function, Inability to walk, Flexion contracture, Oromotor ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Limb dystonia, Abnormal central motor function, Inability to walk, Flexion contracture, Oromotor ... ORPHA:93926
Lobar Holoprosencephaly
Limb dystonia, Abnormal central motor function, Inability to walk, Flexion contracture, Oromotor ... ORPHA:93924
Semilobar Holoprosencephaly
Limb dystonia, Abnormal central motor function, Inability to walk, Flexion contracture, Oromotor ... ORPHA:220386
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea, At... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea, At... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea, At... ORPHA:99226
Turner Syndrome
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea, At... ORPHA:881
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hemiparesis, Paraparesis, Paraplegia ORPHA:79124
Split Cord Malformation
Tethered cord, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Spinal... ORPHA:573278
Orofaciodigital Syndrome Type 1
Tremor, Ataxia, Dystonia ORPHA:2750
Autosomal Recessive Malignant Osteopetrosis
Tremor, Optic nerve compression, Abnormality of visual evoked potentials ORPHA:667
Legius Syndrome
Hyperactivity, Hypotonia, Xanthelasma, Attention deficit hyperactivity disorder, Dystonia ORPHA:137605
Alström Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Somatic sensory dysfunction, Hypertriglyceridemia, Hy... ORPHA:64
Autosomal Recessive Cutis Laxa Type 1
Dystonia ORPHA:90349

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 Ttpa

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 Ttpa.

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

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
Ttpatm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ttpatm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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