Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
chloride channel, voltage-sensitive 1
Synonyms:
Clc1,  nmf355,  NMF355,  SMCC1,  Clc-1

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Clcn1 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 Clcn1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Myotonia Congenita, Autosomal Dominant
Myotonia, Handgrip myotonia, Percussion myotonia, EMG: myotonic runs, Myotonia with warm-up pheno... OMIM:160800
Thomsen And Becker Disease
Myotonia ORPHA:614
Myotonia Congenita, Autosomal Recessive
Myotonia, EMG: myotonic runs, Percussion myotonia, Myotonia with warm-up phenomenon OMIM:255700

The table below shows human diseases predicted to be associated to Clcn1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Atonic-Astatic Syndrome Of Foerster
Ataxia, Inability to walk, Generalized hypotonia, Hypotonia, Abasia OMIM:209100
Spastic Paraplegia 34, X-Linked
Babinski sign, Clonus, Paraplegia, Spastic gait, Impaired vibratory sensation, Spastic paraplegia OMIM:300750
Spastic Paraplegia 61, Autosomal Recessive
Scissor gait, Inability to walk, Spasticity, Spastic paraplegia, Difficulty walking OMIM:615685
X-Linked Spastic Paraplegia Type 34
Babinski sign, Shuffling gait, Lower limb spasticity, Impaired vibration sensation in the lower l... ORPHA:171607
Neuropathy, Hereditary Sensory, Atypical
Babinski sign, Ataxia, Sensory ataxia OMIM:256860
Spastic Paraplegia 24, Autosomal Recessive
Spastic paraplegia, Clonus, Tip-toe gait, Spasticity OMIM:607584
Mental Retardation With Spastic Paraplegia
Spastic paraplegia, Slowly progressive spastic quadriparesis OMIM:309640
Neuhauser-Eichner-Opitz Syndrome
Rigidity, Ataxia, Hypertonia, Spasticity, Hypotonia ORPHA:2672
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Spastic Paraplegia With Associated Extrapyramidal Signs
Spastic paraplegia, Abnormality of extrapyramidal motor function OMIM:182800
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance, Hypertonia ORPHA:256
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Hypotrichosis 1
Sparse eyelashes, Sparse eyebrow, Sparse pubic hair, Sparse axillary hair, Sparse hair, Sparse bo... OMIM:605389
Myotonia Congenita, Autosomal Dominant
Myotonia, Handgrip myotonia, Percussion myotonia, EMG: myotonic runs, Myotonia with warm-up pheno... OMIM:160800
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Ataxia, Generalized hypotonia OMIM:618384
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Paramyotonia Congenita Of Von Eulenburg
Myotonia, Myotonia of the upper limb, Handgrip myotonia, Percussion myotonia, Cold-sensitive myot... ORPHA:684
Normokalemic Periodic Paralysis
Myotonia, Periodic paralysis OMIM:170600
Myelopathy, Htlv-1-Associated
Abnormal pyramidal sign, Spastic paraparesis OMIM:159580
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Spastic Paraplegia, Epilepsy, And Mental Retardation
Spastic paraplegia, Spastic paraparesis OMIM:182610
Myoclonus, Familial, 1
Ataxia, Myoclonus, Falls, Frequent falls OMIM:614937
Hypotrichosis Simplex
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... ORPHA:55654
Hypotrichosis 4
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair OMIM:146550
Autosomal Recessive Spastic Paraplegia Type 43
Babinski sign, Spastic gait, Impaired vibratory sensation, Poor fine motor coordination, Difficul... ORPHA:320370
Spastic Ataxia 4, Autosomal Recessive
Babinski sign, Spastic paraparesis, Spastic ataxia OMIM:613672
Charcot-Marie-Tooth Disease Type 2B1
Proximal amyotrophy, Decreased motor nerve conduction velocity, Motor axonal neuropathy, Shoulder... ORPHA:98856
Spinocerebellar Ataxia Type 4
Impaired proprioception, Gait disturbance, Ataxia, Impaired vibratory sensation, Impaired tactile... ORPHA:98765
Spinocerebellar Ataxia 40
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Spastic parapar... OMIM:616053
Posterior Column Ataxia
Impaired proprioception, Ataxia, Impaired vibratory sensation OMIM:176250
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Paresthesia, Motor axonal neuropathy, Camptodactyly of finger, Thoracic scoliosis, Weakness of lo... ORPHA:324442
Autosomal Recessive Spastic Paraplegia Type 24
Clonus, Scissor gait, Tip-toe gait, Spasticity, Spastic paraplegia ORPHA:101004
Spastic Ataxia With Congenital Miosis
Ataxia, Spastic ataxia, Hemiplegia/hemiparesis ORPHA:1182
Episodic Ataxia Type 5
Ataxia, Truncal ataxia ORPHA:211067
Ataxia-Microcephaly-Cataract Syndrome
Hypotonia, Ataxia, Generalized hypotonia OMIM:208870
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Spinocerebellar Ataxia Type 40
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Gait ataxia, Sp... ORPHA:423275
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Hypotonia, Ataxia, Inability to walk, Appendicular hypotonia OMIM:619333
Tapetoretinal Degeneration With Ataxia
Ataxia OMIM:272600
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Gait disturbance, Steppage gait, Axonal degeneration, Distal sensory impairment, Foot dorsiflexor... OMIM:616155
Spastic Paraparesis-Deafness Syndrome
Gait disturbance, Impaired pain sensation, Ataxia, Spastic paraparesis, Hemiplegia/hemiparesis ORPHA:2815
X-Linked Complicated Spastic Paraplegia Type 1
Spastic paraplegia, Ataxia, Upper motor neuron dysfunction ORPHA:306617
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Hypotonia, Tremor, Ataxia, Generalized hypotonia OMIM:213000
Rippling Muscle Disease 1
Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:600332
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration/re... OMIM:614436
Alpers-Huttenlocher Syndrome
Progressive spasticity, Choreoathetosis, Myoclonus, Paraparesis, Ataxia, Spasticity, Hypotonia, S... ORPHA:726
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements OMIM:611092
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Mast Syndrome
Babinski sign, Gait disturbance, Apraxia, Spastic paraplegia, Spastic paraparesis OMIM:248900
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Thomsen And Becker Disease
Myotonia ORPHA:614
Hypotrichosis 14
Sparse hair, Sparse body hair OMIM:618275
Oocyte Maturation Defect 1
Infertility OMIM:615774
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Oocyte Maturation Defect 5
Infertility OMIM:617996
Cerebellar Ataxia, Cayman Type
Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Broad-based gait, Generalized... ORPHA:94122
Isolated Cerebellar Agenesis
Hypotonia, Ataxia, Hypertonia ORPHA:1398
Amyotrophic Lateral Sclerosis Type 4
Babinski sign, Gait disturbance, Spastic paraplegia, Abnormal pyramidal sign, Somatic sensory dys... ORPHA:357043
Autosomal Spastic Paraplegia Type 30
Babinski sign, Scissor gait, Spastic gait, Lower limb spasticity, Distal sensory impairment, Atax... ORPHA:101010
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy, Kyphosis, Distal sensory impairme... OMIM:617087
Hydrocephaly-Cerebellar Agenesis Syndrome
Hypotonia, Ataxia ORPHA:1397
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Hypotrichosis 11
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... OMIM:615059
Hyperkalemic Periodic Paralysis
Myotonia, Periodic hyperkalemic paralysis OMIM:170500
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus OMIM:616921
Hypotrichosis 13
Sparse and thin eyebrow, Sparse hair, Woolly hair OMIM:615896
Progressive Myoclonic Epilepsy Type 1
Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia ORPHA:308
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Cerebellar Ataxia And Ectodermal Dysplasia
Ataxia, Alopecia, Sparse hair OMIM:212835
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Internally nucleated skeletal muscle fibers, Axonal dege... OMIM:618138
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypertrophic nerve cha... OMIM:214400
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
3-Methylglutaconic Aciduria Type 3
Ataxia, Gait disturbance, Spastic paraparesis, Choreoathetosis ORPHA:67047
Cerebellar Ataxia, Cayman Type
Intention tremor, Broad-based gait, Generalized hypotonia, Hypotonia, Gait ataxia OMIM:601238
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Myotonia Congenita, Autosomal Recessive
Myotonia, EMG: myotonic runs, Percussion myotonia, Myotonia with warm-up phenomenon OMIM:255700
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Hypotrichosis 10
Sparse eyelashes, Sparse eyebrow, Sparse body hair OMIM:614238
Maple Syrup Urine Disease
Hypotonia, Ataxia, Hemiplegia/hemiparesis ORPHA:511
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... OMIM:601596
Developmental Delay With Dysmorphic Facies And Dental Anomalies
Hypotonia, Ataxia, Spasticity OMIM:619228
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Onion bulb formation, Gait disturbance, Decreased motor nerve conduction velocity, Hand muscle we... OMIM:302800
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98855
Hypotrichosis 7
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Woolly hair OMIM:604379
Witkop Syndrome
Fine hair, Small nail, Ridged nail, Concave nail, Sparse hair, Nail pits OMIM:189500
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Percussion myotonia, Skeletal muscle fibrosis, Rimmed vacuoles,... ORPHA:34516
Mitochondrial Dna Depletion Syndrome 18
Weakness of facial musculature, Failure to thrive, Falls, Axonal degeneration, Distal amyotrophy,... OMIM:618811
Alopecia, Congenital
Alopecia, Sparse hair OMIM:300042
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor ORPHA:2589
Richieri Costa-Da Silva Syndrome
Decreased muscle mass, Myotonia of the upper limb, Skeletal muscle hypertrophy, Vertebral wedging... ORPHA:3101
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, EMG: myotonic runs, Sca... ORPHA:353
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration, Distal sensory impairm... OMIM:606482
Spinocerebellar Ataxia Type 23
Impaired proprioception, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Impaired distal... ORPHA:101108
Rippling Muscle Disease 2
Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:606072
Cerebral Creatine Deficiency Syndrome 2
Progressive extrapyramidal movement disorder, Myoclonus, Ataxia, Hypertonia, Infantile muscular h... OMIM:612736
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Tremor, Truncal ataxia, Generalized hypotonia, Hypotonia, Unsteady gait OMIM:616127
Autosomal Recessive Spastic Paraplegia Type 27
Spastic paraplegia, Babinski sign, Dysdiadochokinesis, Impaired vibration sensation at ankles ORPHA:101007
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98863
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Tremor, Ataxia, Loss of ability to walk, Generalized hypotonia, Unsteady gait OMIM:617917
Phosphoserine Phosphatase Deficiency
Hypertonia, Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Intellectual Developmental Disorder, Autosomal Dominant 56
Paraparesis, Ataxia, Spasticity, Generalized hypotonia, Attention deficit hyperactivity disorder OMIM:617854
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Zebra Body Myopathy
Handgrip myotonia, Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopathic abnormalities, ... ORPHA:97240
Neuronopathy, Distal Hereditary Motor, Type Iib
Paralysis OMIM:608634
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Dystonia, Rigidity, Choreoathetosis, Torticollis, Chorea, Paroxysmal dyski... ORPHA:98810
Spastic Paraplegia 80, Autosomal Dominant
Spastic paraplegia, Babinski sign, Gait disturbance, Ataxia OMIM:618418
Leukoencephalopathy, Brain Calcifications, And Cysts
Dystonia, Gait disturbance, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... OMIM:614561
Epilepsy, Familial Adult Myoclonic, 7
Myoclonic tremor OMIM:618075
Dystonia 6, Torsion
Lingual dystonia, Writer's cramp, Torticollis, Oromandibular dystonia, Myoclonus, Laryngeal dysto... OMIM:602629
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Ataxia OMIM:619061
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail OMIM:614928
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Myotonia, Skeletal muscle atrophy, Sensory axonal neuropathy, Distal sensory impairment, Foot dor... OMIM:137200
Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98853
Developmental And Epileptic Encephalopathy 37
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Hyperkinetic movements, Spasticity OMIM:616981
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia OMIM:254950
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Peripheral axonal degeneration, Cerebellar atrophy, Decreased number of large periphera... OMIM:208920
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Episodic Ataxia Type 1
Myotonia, Cerebellar atrophy, Choreoathetosis, Kyphoscoliosis, Tip-toe gait, Calf muscle hypertro... ORPHA:37612
X-Linked Charcot-Marie-Tooth Disease Type 5
Gait disturbance, Impaired pain sensation, Paraparesis, Tremor, Ataxia ORPHA:99014
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor, Neonatal hypotonia OMIM:300703
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations OMIM:182980
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Laryngeal Abductor Paralysis
Paralysis OMIM:308850
Paramyotonia Congenita Of Von Eulenburg
Handgrip myotonia, Paradoxical myotonia, Percussion myotonia OMIM:168300
Spastic Paraplegia 79, Autosomal Recessive
Babinski sign, Myotonia, Head titubation, Dysmetria, Fasciculations, Intention tremor, Ataxia, An... OMIM:615491
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse and thin eyebrow, Alopecia, Hypoplastic toenails, Abnormal fingernail morphology, Sparse h... ORPHA:2722
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Generalized hypotonia OMIM:617113
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Proximal amyotrophy, Gait disturbance, Hand tremor, Axonal degeneration, Distal sensory impairmen... OMIM:604484
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Chorea, Kyphoscoliosis... OMIM:604168
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia OMIM:616410
Dystonia 15, Myoclonic
Dystonia, Myoclonus, Writer's cramp OMIM:607488
Choreoathetosis, Familial Inverted
Progressive choreoathetosis, Abnormal pyramidal sign, Gait disturbance, Rigidity OMIM:118750
Ectodermal Dysplasia 9, Hair/Nail Type
Absent hair, Nail dystrophy, Atrichia, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair OMIM:614931
Woolly Hair, Autosomal Recessive 3
Fine hair, Sparse eyelashes, Trichorrhexis nodosa, Curly hair, Sparse scalp hair, Sparse hair OMIM:616760
Dystonia 23
Gait disturbance, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Head tremor, Limb dystonia OMIM:614860
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Myoclonus, Fasciculations, Progressive cerebellar ataxia, Truncal ataxia, Upper motor neuron dysf... ORPHA:95434
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Steppage gait, Distal sensory impairment, Paraparesis OMIM:302802
Spinocerebellar Ataxia 45
Ataxia, Limb ataxia, Gait ataxia OMIM:617769
Kufor-Rakeb Syndrome
Dystonia, Babinski sign, Gait disturbance, Rigidity, Torticollis, Myoclonus, Bradykinesia, Parapa... OMIM:606693
Developmental And Epileptic Encephalopathy 38
Dystonia, Hypertonia, Ataxia, Generalized hypotonia OMIM:617020
Infantile Spasms Syndrome
Myoclonus ORPHA:3451
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Impaired pain sensation, Distal upper limb amyotrophy, Kyphosis, Tremor, Distal... ORPHA:101075
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebral palsy, Dysdiadochokinesis, Broad-based gait OMIM:605388
Spinocerebellar Ataxia, Autosomal Recessive 6
Clumsiness, Dysmetria, Intention tremor, Ataxia, Spasticity, Generalized hypotonia, Hypotonia, Ga... OMIM:608029
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Diffuse axonal swelling, Amyotrophic lateral sclerosis, Axonal de... OMIM:602433
Geniospasm 1
Chin myoclonus OMIM:190100
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Babinski sign, Dysmetria, Progressive gait ataxia, Intention tremor, Progressive cere... ORPHA:284332
Myotonia With Skeletal Abnormalities And Mental Retardation
Firm muscles, Myotonia, Skeletal muscle hypertrophy, Vertebral wedging, Kyphoscoliosis OMIM:255710
Muscular Dystrophy, Barnes Type
Myotonia OMIM:158800
Graham Little-Piccardi-Lassueur Syndrome
Sparse axillary hair, Alopecia, Sparse scalp hair, Sparse pubic hair ORPHA:505
Episodic Ataxia, Type 8
Ataxia, Episodic ataxia, Slurred speech, Intention tremor OMIM:616055
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dystonia, Cerebellar atrophy, Skeletal muscle atrophy, Dysmetria, Neurodegeneration, Axonal degen... OMIM:615157
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus OMIM:217200
Spermatogenic Failure 35
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617592
Spinocerebellar Ataxia, Autosomal Recessive 22
Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, Unsteady gait, Abnorm... OMIM:616948
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Paraparetic Variant Of Guillain-Barré Syndrome
Impaired distal proprioception, Paraparesis ORPHA:231445
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Frequent falls, Myoclonus, Upper limb hypertonia, Progressive gait ataxia, Progres... ORPHA:254343
Myotonia Permanens
Gait disturbance, Myotonia, Skeletal muscle hypertrophy, Generalized muscle hypertrophy, Hyperlor... ORPHA:99735
Gordon Holmes Syndrome
Ataxia, Hypogonadotropic hypogonadism, Infertility, Oligomenorrhea OMIM:212840
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... OMIM:611302
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Limb ataxia OMIM:617133
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus OMIM:604827
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... ORPHA:206549
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Axona... OMIM:605588
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Myopathy, Myotonia, Skeletal muscle atrophy, Flexion con... OMIM:310440
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Dystonia, Babinski sign, Opisthotonus, Rigidity, Frequent falls, Chorea, Truncal titubation, Cogw... OMIM:607483
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Involuntary movements, Gait disturbance, Dystonia, Chorea, Myoclonus, Ataxia, Craniofacial dyston... OMIM:617282
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Pili torti, Reduced terminal:vellus ratio, Sparse hair OMIM:601553
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gait ataxia OMIM:613728
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse eyelashes, Abnormal hair morphology, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sp... ORPHA:1808
Spinocerebellar Ataxia 29
Dysmetria, Intention tremor, Impaired tandem gait, Dysdiadochokinesis, Nonprogressive cerebellar ... OMIM:117360
Distal Myopathy, Tateyama Type
Clumsiness, Weakness of the intrinsic hand muscles, Calf muscle hypoplasia, EMG: myopathic abnorm... ORPHA:488650
Myoclonus-Dystonia Syndrome
Dystonia, Limb myoclonus, Writer's cramp, Torticollis, Myoclonus, Spinal myoclonus ORPHA:36899
Dystonia 28, Childhood-Onset
Gait disturbance, Dystonia, Short stature, Torticollis, Oromandibular dystonia, Myoclonus, Retroc... OMIM:617284
Horner Syndrome, Congenital
Paralysis OMIM:143000
Trichodysplasia-Xeroderma
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... OMIM:190360
Autosomal Dominant Spastic Paraplegia Type 73
Babinski sign, Spastic gait, Lower limb spasticity, Progressive spastic paraparesis, Impaired vib... ORPHA:444099
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Alopecia, Sparse hair OMIM:203600
Spinocerebellar Ataxia Type 35
Babinski sign, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention tremor, Progressive cere... ORPHA:276193
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Dystonia, Choreoathetosis, Myoclonus, Inability to walk, Hyperkinetic movements OMIM:618497
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Gait disturbance, Rigidity, Oromandibular dystonia, Bradykinesia, Spastic tetraplegia, ... OMIM:615643
Alternating Hemiplegia Of Childhood 2
Dystonia, Episodic quadriplegia, Choreoathetosis, Tetraplegia, Ataxia, Hemiplegia OMIM:614820
Spinocerebellar Ataxia Type 37
Gait disturbance, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis... ORPHA:363710
Autosomal Dominant Striatal Neurodegeneration
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity ORPHA:228169
Hypotrichosis 5
Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair OMIM:612841
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Skeletal muscle atrophy, Impaired pain sensation, Decreased nerve conduction ve... ORPHA:101078
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Fasciculations, Tremor, Distal sensory impairment, Calf muscle hypertrop... OMIM:615048
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Abnormality of the vertebral column, Peripheral demyelination, Quadriceps muscle weakness, Proxim... ORPHA:101097
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Dystonia, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... OMIM:607317
Deafness, Congenital, And Familial Myoclonic Epilepsy
Myoclonus OMIM:220300
Epilepsy, Progressive Myoclonic, 11
Ataxia, Myoclonus, Rigidity, Intention tremor OMIM:618876
Spastic Paraplegia 18, Autosomal Recessive
Gait disturbance, Skeletal muscle atrophy, Kyphosis, Scoliosis, Lower limb muscle weakness OMIM:611225
Developmental And Epileptic Encephalopathy 92
Dystonia, Myoclonus, Ataxia, Inability to walk, Spasticity, Difficulty walking, Lethargy OMIM:617829
Spinocerebellar Ataxia 35
Babinski sign, Torticollis, Dysmetria, Intention tremor, Ataxia, Incoordination, Difficulty walking OMIM:613908
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, S... ORPHA:3361
Spinocerebellar Ataxia 37
Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Acetazolamide-Responsive Myotonia
Gait disturbance, Myotonia, Skeletal muscle hypertrophy ORPHA:99736
Myotonia Fluctuans
Myotonia of the upper limb, Handgrip myotonia, Myotonia of the lower limb, Spasticity of facial m... ORPHA:99734
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, EMG: myopathic abnormalities, ... ORPHA:276435
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:168100
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Ataxia, Generalized hypotonia ORPHA:404493
Episodic Ataxia, Type 2
Dystonia, Myotonia, Paresthesia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Episod... OMIM:108500
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Generalized hypotonia, Hypotonia, Limb ata... OMIM:213200
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Impaired proprioception, Gait disturbance, Truncal titubation, Positive Romberg sign, Axonal dege... ORPHA:88628
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism ORPHA:401901
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Athetosis, Dystonia, Abnormality of extrapyramidal motor function, Ataxia, Inability to walk, Gen... OMIM:615159
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Rigidity, Bradykinesia, Fasciculations, Ataxia, Spasticity OMIM:183050
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Progressive spastic paraparesis, Spastic tetraparesis, Spastic ataxia, Generalized hypotonia ORPHA:496756
Autosomal Recessive Spastic Paraplegia Type 25
Spastic paraplegia, Paraparesis ORPHA:101005
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased muscle mass, Peripheral axonal neuropathy, Axonal degeneration, Knee flexion contractur... OMIM:615490
Spastic Paraplegia 2, X-Linked
Babinski sign, Dysmetria, Spastic gait, Lower limb spasticity, Spastic paraplegia, Spastic parapa... OMIM:312920
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Myoclonus OMIM:208700
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... ORPHA:189
Pleoconial Myopathy With Salt Craving
Paralysis OMIM:262900
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Gait disturbance, Skeletal muscle atrophy, Gait imbala... ORPHA:101081
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Sparse body hair OMIM:617294
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Nonprogressive cerebellar ataxi... ORPHA:314978
Succinic Semialdehyde Dehydrogenase Deficiency
Hypotonia, Ataxia ORPHA:22
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... OMIM:602032
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Weakness due to upper motor neuron dysfunction, Abnormality of extrapyramidal moto... ORPHA:275872
Developmental And Epileptic Encephalopathy 69
Dystonia, Myoclonus, Spastic tetraplegia, Inability to walk, Hyperkinetic movements OMIM:618285
Developmental And Epileptic Encephalopathy 40
Myoclonus, Spasticity, Choreoathetosis OMIM:617065
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Benign Adult Familial Myoclonic Epilepsy
Hand tremor, Myoclonus ORPHA:86814
Corticobasal Syndrome
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... ORPHA:454887
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk, Generalized hypo... OMIM:618090
Facial Onset Sensory And Motor Neuronopathy
Fasciculations ORPHA:85162
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Dentatorubral-Pallidoluysian Atrophy
Choreoathetosis, Chorea, Myoclonus, Ataxia, Abnormal pyramidal sign OMIM:125370
Spastic Paraplegia 30, Autosomal Dominant
Babinski sign, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, Ankle clonus, Spastic para... OMIM:610357
Lichtenstein-Knorr Syndrome
Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Spastic Paraplegia 10, Autosomal Dominant
Babinski sign, Knee clonus, Spastic gait, Lower limb spasticity, Impaired vibration sensation in ... OMIM:604187
Spinocerebellar Ataxia 19
Postural tremor, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia, Truncal ataxia, Lim... OMIM:607346
Hypotrichosis 8
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... OMIM:278150
Autosomal Dominant Spastic Paraplegia Type 3
Babinski sign, Gait disturbance, Rigidity, Frequent falls, Spastic gait, Hyperesthesia, Lower lim... ORPHA:100984
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia... OMIM:614929
Leukodystrophy, Hypomyelinating, 16
Dystonia, Dysmetria, Intention tremor, Hypertonia, Broad-based gait, Generalized hypotonia, Abnor... OMIM:617964
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Dystonia, Chorea, Myoclonus, Inability to walk, Hyperkinetic movements, Spasticity, Oculogyric cr... OMIM:614254
Roussy-Lévy Syndrome
Postural tremor, Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Impaired pai... ORPHA:3115
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Peripheral axonal neuropathy, Dysmetria, Kyphosis, Ataxia, Limb ataxia, Gait ... OMIM:610743
Glut1 Deficiency Syndrome 1
Paralysis, Babinski sign, Choreoathetosis, Myoclonus, Hemiparesis, Ataxia, Spasticity OMIM:606777
Spastic Paraplegia 48, Autosomal Recessive
Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, Broad-based gait, Spastic paraplegia, Par... OMIM:613647
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Babinski sign, Gait disturbance, Limb fasciculations, Spastic gait, Tongue fasciculations, Spasti... ORPHA:329475
Roussy-Levy Hereditary Areflexic Dystasia
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Kyph... OMIM:180800
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Peripheral axonal neuropathy, Kyphoscoliosis, Tremor, Ataxia, Distal amyotrophy OMIM:619099
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Parkinsonism, Ataxia, Myoclonus, Abnormality of extrapyramidal motor function OMIM:162350
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis OMIM:159900
Vitamin B12-Unresponsive Methylmalonic Acidemia
Choreoathetosis, Paraparesis, Ataxia, Tetraparesis, Hypotonia, Lethargy ORPHA:27
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Myotonia ORPHA:371
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Peripheral axonal degeneration, Small for gestational age, Limb muscle weakness, Failure to thriv... OMIM:604320
Encephalopathy, Recurrent, Of Childhood
Athetosis, Babinski sign, Choreoathetosis, Chorea, Intention tremor, Incoordination, Truncal atax... OMIM:130950
Autosomal Dominant Cerebellar Ataxia
Impaired proprioception, Torticollis, Fasciculations, Paraparesis, Akinesia, Tongue fasciculation... ORPHA:99
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Infertility OMIM:608653
Angioma Serpiginosum, X-Linked
Fine hair, Nail dystrophy, Sparse hair OMIM:300652
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia OMIM:615362
Hereditary Geniospasm
Chin myoclonus ORPHA:53372
Myofibrillar Myopathy 10
Ankle flexion contracture, Percussion myotonia, EMG: myopathic abnormalities, Knee flexion contra... OMIM:619040
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Clumsiness, Dystonia, Babinski sign, Frequent falls, Dysmetria, Intention tremor, Oculomotor apra... ORPHA:453521
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Dystonia, Kyphosis, Ataxia, Inability to walk, Waddling gait, Broad-based gait, Cerebral atrophy,... OMIM:616756
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Paralysis, Limb fasciculations, Dysmetria, Progressive cerebellar ataxia, Gait ataxia OMIM:606183
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Myoclonus, Ataxia, Attention deficit hyperactivity disorder, Difficulty walking OMIM:619191
Spastic Paraplegia 76, Autosomal Recessive
Babinski sign, Dysmetria, Lower limb spasticity, Distal sensory impairment, Ataxia, Spastic parap... OMIM:616907
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, ... ORPHA:79262
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Dystonia, Paresthesia, Choreoathetosis, Paroxysmal dyskinesia, Episodic ataxia, Spastic paraplegi... ORPHA:53583
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Ataxia, Postnatal growth retardation, Short stature OMIM:616113
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Dystonia With Ringbinden
Dystonia, Gait disturbance, Chorea OMIM:224550
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Extrapyramidal dyskinesia, Paraparesis, Apraxia, Tetraparesis, Parkinsonism OMIM:105550
Porphyria, Acute Hepatic
Paralysis, Respiratory paralysis OMIM:612740
Striatal Degeneration, Autosomal Dominant 1
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity OMIM:609161
Monilethrix
Nail dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Nail dysplasia, Sparse hair OMIM:158000
Hyperkalemic Periodic Paralysis
Myotonia, Myopathy, Skeletal muscle atrophy, Paresthesia, Skeletal muscle hypertrophy, Cerebral p... ORPHA:682
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Myoclonus, Bradykinesia, Tr... ORPHA:314632
Spastic Tetraplegia And Axial Hypotonia, Progressive
Babinski sign, Lower limb spasticity, Exaggerated startle response, Fasciculations, Spastic tetra... OMIM:618598
Atypical Juvenile Parkinsonism
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting tremo... ORPHA:391411
Palmoplantar Keratoderma And Woolly Hair
Sparse eyelashes, Woolly scalp hair, Sparse and thin eyebrow, Woolly hair, Leukonychia, Sparse sc... OMIM:616099
Dystonia, Dopa-Responsive
Postural tremor, Dystonia, Babinski sign, Writer's cramp, Torticollis, Cogwheel rigidity, Bradyki... OMIM:128230
Neurodegeneration With Brain Iron Accumulation 7
Dysmetria, Loss of ability to walk, Ataxia, Spasticity, Generalized hypotonia OMIM:617916
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Myoclonus, Tremor, Ataxia, Hyperactivity, Tetraparesis, Spasticity, Abnormal pyramidal ... OMIM:615924
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Fasciculations OMIM:608030
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Clonus, Opisthotonus, Rigidity, Choreoathetosis, Chorea, Myoclonus, Abnormality of extr... ORPHA:13
X-Linked Adrenoleukodystrophy
Paralysis, Clumsiness, Gait disturbance, Paraparesis, Progressive spastic paraparesis, Hemiparesi... ORPHA:43
Baker-Gordon Syndrome
Involuntary movements, Dystonia, Choreoathetosis, Stereotypy, Ataxia, Inability to walk, Hyperkin... OMIM:618218
Hair Defect With Photosensitivity And Mental Retardation
Sparse eyelashes, Brittle hair, Coarse hair, Sparse and thin eyebrow, Sparse hair OMIM:234030
Combined Saposin Deficiency
Babinski sign, Myoclonus, Hyperkinetic movements, Fasciculations OMIM:611721
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Myotonia, Kyphoscoliosis, Hyperactivity, Premature ovarian insufficiency, Scoliosis ORPHA:391307
Variegate Porphyria
Paralysis OMIM:176200
Spastic Paraplegia, Ataxia, And Mental Retardation
Dystonia, Babinski sign, Knee clonus, Spastic gait, Lower limb spasticity, Impaired vibration sen... OMIM:607565
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis ORPHA:640
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Dystonia, Babinski sign, Dysmetria, Lower limb spasticity, Spastic tetraparesis, Ataxia, Difficul... OMIM:612319
Spinocerebellar Ataxia Type 11
Dystonia, Gait imbalance, Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty walking ORPHA:98767
X-Linked Parkinsonism-Spasticity Syndrome
Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Ankle clonus, Spast... ORPHA:363654
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:600116
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Myoclonus, Abnormality of extrapyramidal motor function OMIM:204300
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Dystonia, Ataxia, Spasticity, Generalized hypotonia, Hypotonia OMIM:614458
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... OMIM:613135
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Progressive spasticity, Babinski sign, Progressive spastic paraparesis, Ankle clonus, Upper motor... ORPHA:506353
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Paralysis, Parkinsonism OMIM:105500
Adrenoleukodystrophy
Impaired vibration sensation at ankles, Paraparesis, Attention deficit hyperactivity disorder, Sl... OMIM:300100
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Short stature, Frequent falls, Torticollis, Dysmetria, Chorea, Spastic ata... ORPHA:397946
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Dystonia, Paresthesia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Low... ORPHA:98811
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Limb hypertonia, Bradykinesia, Attention deficit hyperactivity disorder, Hypertonia, Br... OMIM:617384
Idiopathic Camptocormia
Dystonia, Spinal canal stenosis, Abnormal intervertebral disk morphology, Myotonia, Myositis, Amy... ORPHA:1320
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Choreoathetosis, Chorea, Myoclonus, Extrapyramidal dyskinesia, Hemiparesis, Ataxia, Hy... ORPHA:71277
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Proximal amyotrophy, Cerebellar atrophy, Vertebral fusion, Macroglossia, Achilles tendon contract... OMIM:606612
Primary Angiitis Of The Central Nervous System
Paralysis, Hemiparesis, Paraparesis, Ataxia, Tetraparesis, Parkinsonism ORPHA:140989
Neuronopathy, Distal Hereditary Motor, Type Viii
Nonprogressive muscular atrophy, Hip contracture, Proximal lower limb amyotrophy, Arthrogryposis ... OMIM:600175
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Onion bulb formation, Decreased motor nerve conduction velocity, Limb muscle weakness, Steppage g... OMIM:118220
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Ataxia, Truncal ataxia OMIM:617584
Myotonia, Potassium-Aggravated
Myotonia OMIM:608390
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Impaired temperature sensation, Upper limb amyotrophy, Impaired pain sensation, Limb fasciculatio... ORPHA:99940
Spastic Ataxia 5, Autosomal Recessive
Dystonia, Dysmetria, Myoclonus, Spastic ataxia, Oculomotor apraxia, Ataxia, Dysdiadochokinesis, S... OMIM:614487
Neuronopathy, Distal Hereditary Motor, Type Iid
Triceps weakness, Weakness of the intrinsic hand muscles, Fasciculations, Spinal muscular atrophy... OMIM:615575
Dyskeratosis Congenita, Autosomal Recessive 6
Ataxia, Nail dystrophy, Alopecia, Sparse hair OMIM:616353
X-Linked Charcot-Marie-Tooth Disease Type 3
Gait disturbance, Tremor, Inability to walk, Difficulty walking, Spastic paraparesis, Somatic sen... ORPHA:101077
Monilethrix
Fine hair, Brittle hair, Abnormal eyebrow morphology, Abnormality of the nail, Slow-growing hair,... ORPHA:573
Leukodystrophy, Hypomyelinating, 9
Dysmetria, Abnormality of extrapyramidal motor function, Intention tremor, Ataxia, Spasticity OMIM:616140
Valinemia
Hyperkinetic movements OMIM:277100
Spinocerebellar Ataxia 5
Dysmetria, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis, Incoordination, Up... OMIM:600224
Mitochondrial Complex I Deficiency, Nuclear Type 17
Dystonia, Gait disturbance, Rigidity, Ataxia, Generalized hypotonia OMIM:618239
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Hand tremor, Myoclonus, Vocal tremor, Upper limb postural tremor, Blepharospasm ORPHA:420485
Spastic Paraplegia 75, Autosomal Recessive
Babinski sign, Dysmetria, Spastic dysarthria, Hypotonia, Spastic paraparesis, Neonatal hypotonia OMIM:616680
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Palatal myoclonus, Spastic paraparesis, Truncal ataxia OMIM:113610
Spinocerebellar Ataxia Type 14
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia ORPHA:98763
Epilepsy, Progressive Myoclonic, 6
Tremor, Ataxia, Myoclonus, Difficulty walking OMIM:614018
Spinal Muscular Atrophy, Type Iii
Hand tremor, Tongue fasciculations, Limb fasciculations OMIM:253400
Epilepsy, Progressive Myoclonic, 8
Myoclonus OMIM:616230
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Dysmetria, Chorea, Ataxia, Inability to walk, Gait ataxia, Muscular hypotonia of the trunk OMIM:618501
Neuropathy, Hereditary, With Liability To Pressure Palsies
Vocal cord paralysis OMIM:162500
Nemaline Myopathy 4
Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Kyphoscoliosis, Waddling gait, Di... OMIM:609285
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair ORPHA:1008
Spinocerebellar Ataxia Type 12
Postural tremor, Parkinsonism, Gait disturbance, Tremor by anatomical site, Bradykinesia, Intenti... ORPHA:98762
X-Linked Dystonia-Parkinsonism
Frequent falls, Chorea, Hand tremor, Myoclonus, Shuffling gait, Bradykinesia, Focal dystonia, Par... ORPHA:53351
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Spermatogenic Failure 12
Infertility, Azoospermia OMIM:615413
Joubert Syndrome 24
Gait disturbance, Dysmetria, Ataxia, Spasticity, Generalized hypotonia, Hypotonia OMIM:616654
Schwartz-Jampel Syndrome, Type 1
Myotonia, Shoulder flexion contracture, Skeletal muscle atrophy, Hip contracture, Skeletal muscle... OMIM:255800
Ataxia-Oculomotor Apraxia 4
Tetraplegia, Dystonia, Ataxia, Oculomotor apraxia OMIM:616267
Oculotrichodysplasia
Sparse eyelashes, Sparse lateral eyebrow, Sparse scalp hair, Sparse pubic hair, Generalized hypot... OMIM:257960
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus OMIM:102300
Spastic Paraplegia 20, Autosomal Recessive
Babinski sign, Knee clonus, Upper limb spasticity, Dysmetria, Spastic gait, Lower limb spasticity... OMIM:275900
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Rigidity, Abnormality of extrapyramidal motor function, Bradykinesia, Tremor, Parkinson... OMIM:300894
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Onion bulb formation, Decreased motor nerve conduction velocity, Limb muscle weakness, Steppage g... OMIM:118200
Spinocerebellar Ataxia, Autosomal Recessive 18
Babinski sign, Dysmetria, Oculomotor apraxia, Ataxia, Dysdiadochokinesis, Incoordination, Truncal... OMIM:616204
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis OMIM:605285
Scheuermann Disease
Morbus Scheuermann, Kyphosis OMIM:181440
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... ORPHA:170
Charcot-Marie-Tooth Disease, Type 4K
Dystonia, Axonal loss, Skeletal muscle atrophy, Kyphoscoliosis, Peripheral demyelination, Ataxia,... OMIM:616684
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Paresthesia, Dysmetria, Hypogonadotropic hypogonadism, Motor axonal neuropathy, Acute rhabdomyoly... ORPHA:48431
Spinocerebellar Ataxia Type 20
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Lary... ORPHA:101110
Hypotrichosis 12
Dry hair, Sparse or absent eyelashes, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Spars... OMIM:615885
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Paroxysmal dystonia, Myoclonus, Writer's cramp OMIM:608105
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Spasticity, Waddling gait, Tip-toe gait, Fasciculations OMIM:615290
Ceroid Lipofuscinosis, Neuronal, 8
Ataxia, Myoclonus OMIM:600143
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Oculomotor apraxia, Inability to walk, Ataxia, Generalized hypotonia, Unsteady gait OMIM:618273
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Babinski sign, Dystonia, Short stature, Myoclonus, Ataxia, Spastic diplegia OMIM:619065
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Babinski sign, Clumsiness, Dysmetria, Progressive gait ataxia, Oculomotor apraxi... ORPHA:284324
Late-Infantile/Juvenile Krabbe Disease
Clumsiness, Gait disturbance, Acroparesthesia, Frequent falls, Loss of ambulation, Muscular hypot... ORPHA:206443
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis OMIM:613710
Neuronopathy, Distal Hereditary Motor, Type Viib
Vocal cord paralysis OMIM:607641
Hypertrophic Neuropathy Of Dejerine-Sottas
Onion bulb formation, Decreased motor nerve conduction velocity, Steppage gait, Hypertrophic nerv... OMIM:145900
Spastic Paraplegia 46, Autosomal Recessive
Upper limb dysmetria, Infertility, Cerebellar atrophy, Limb muscle weakness, Spastic gait, Kyphos... OMIM:614409
Hsd10 Disease
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia, Infantile muscular hypoto... ORPHA:391417
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysmetria, Positive Romberg sign, Distal sensory impairment, Oculomotor apraxia, Ataxia, Dysdiado... OMIM:617633
Joubert Syndrome 27
Oculomotor apraxia, Ataxia, Generalized hypotonia OMIM:617120
Autosomal Recessive Spastic Paraplegia Type 48
Spastic gait, Myoclonus, Lower limb spasticity, Ataxia, Broad-based gait, Parkinsonism, Progressi... ORPHA:306511
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Decreased body weight, Waddling gait, Small for gestational age, Kyphosis OMIM:618392
Familial Dyskinesia And Facial Myokymia
Dystonia, Limb hypertonia, Chorea, Myoclonus, Resting tremor, Difficulty walking ORPHA:324588
Spinocerebellar Ataxia 32
Testicular atrophy, Ataxia, Infertility, Azoospermia OMIM:613909
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Dysmetria, Chorea, Bradykinesia, Abnormal pyramidal sign, Ataxia, Parkinsonism OMIM:618317
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, Ataxia OMIM:619028
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Hypogonadism, Infertility, Primary amenorrhea, Azoospermia OMIM:229070
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Coasy Protein-Associated Neurodegeneration
Parkinsonism, Oromandibular dystonia, Difficulty walking, Spastic paraparesis ORPHA:397725
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebrow, Spar... ORPHA:1818
Leukodystrophy, Hypomyelinating, 2
Progressive spasticity, Dystonia, Babinski sign, Head titubation, Rigidity, Choreoathetosis, Inte... OMIM:608804
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations OMIM:271200
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Parastremmatic Dwarfism
Short neck, Scoliosis, Flexion contracture, Kyphosis OMIM:168400
Familial Infantile Bilateral Striatal Necrosis
Babinski sign, Gait disturbance, Dystonia, Rigidity, Choreoathetosis, Frequent falls, Myoclonus, ... ORPHA:225154
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait, Limb ataxia ORPHA:284271
Myotonic Dystrophy 1
Testicular atrophy, Myotonia, Facial diplegia, Hypogonadism, Cerebral atrophy OMIM:160900
Foxg1 Syndrome
Dystonia, Severe postnatal growth retardation, Short stature, Choreoathetosis, Myoclonus, Stereot... ORPHA:561854
Aredyld
Generalized hypotrichosis OMIM:207780
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Familial Scheuermann Disease
Abnormal form of the vertebral bodies, Kyphosis ORPHA:3135
Tooth Agenesis, Selective, 8
Sparse hair, Sparse eyebrow OMIM:617073
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Hypertonia, Myoclonus, Choreoathetosis OMIM:261630
Spinocerebellar Ataxia 44
Frequent falls, Dysmetria, Ataxia, Dysdiadochokinesis, Spasticity, Gait ataxia OMIM:617691
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ataxia, Myoclonus, Abnormal pyramidal sign OMIM:612016
Hyperekplexia 2
Hypertonia, Myoclonus, Exaggerated startle response OMIM:614619
Myotonic Dystrophy 2
Oligospermia, Myotonia, Type 2 muscle fiber atrophy, Hypogonadism OMIM:602668
Juvenile Huntington Disease
Dystonia, Rigidity, Chorea, Myoclonus, Bradykinesia, Progressive cerebellar ataxia, Ataxia, Hyper... ORPHA:248111
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Peripheral axonal neuropathy, Skeletal muscle atrophy, Skeletal muscle... ORPHA:101082
Urocanic Aciduria
Ataxia, Truncal ataxia, Broad-based gait, Action tremor, Gait ataxia ORPHA:210128
Hyperprolactinemia
Menorrhagia, Infertility, Oligomenorrhea OMIM:615555
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Ataxia, Sparse hair ORPHA:1174
Epilepsy, Progressive Myoclonic, 9
Myoclonus, Gait ataxia OMIM:616540
X-Linked Spinocerebellar Ataxia Type 3
Hypotonia, Ataxia ORPHA:85297
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Congenital Arthrogryposis With Anterior Horn Cell Disease
Dystonia, Abnormal anterior horn cell morphology, Peripheral axonal neuropathy, Skeletal muscle a... OMIM:611890
Primary Lateral Sclerosis
Babinski sign, Weakness due to upper motor neuron dysfunction, Spastic gait, Spastic dysarthria, ... ORPHA:35689
Autosomal Recessive Spastic Paraplegia Type 53
Impaired proprioception, Failure to thrive, Upper limb hypertonia, Kyphosis, Impaired vibratory s... ORPHA:319199
Amyotrophic Lateral Sclerosis 5, Juvenile
Babinski sign, Spasticity, Abnormal pyramidal sign, Fasciculations OMIM:602099
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Babinski sign, Gait disturbance, Rigidity, Frequent falls, Hand tremor, Shuffling gait,... ORPHA:289560
Crandall Syndrome
Fine hair, Brittle hair, Alopecia, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:202
Myasthenic Syndrome, Congenital, 25, Presynaptic
Myopathy, Generalized amyotrophy, Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis OMIM:618323
Spinocerebellar Ataxia 34
Fasciculations, Intention tremor, Ataxia, Dysdiadochokinesis, Spasticity, Abnormal pyramidal sign... OMIM:133190
Developmental And Epileptic Encephalopathy 82
Inability to walk, Spastic paraparesis, Spastic tetraplegia, Neonatal hypotonia OMIM:618721
Salla Disease
Athetosis, Ataxia, Inability to walk, Spasticity, Generalized hypotonia, Hypotonia OMIM:604369
Hypotrichosis 6
Sparse eyelashes, Brittle hair, Pili torti, Sparse and thin eyebrow, Sparse hair OMIM:607903
Charcot-Marie-Tooth Disease Type 4D
Postural tremor, Decreased motor nerve conduction velocity, Upper limb amyotrophy, Kyphoscoliosis... ORPHA:99950
Peroxisome Biogenesis Disorder 8B
Dysmetria, Ataxia, Spasticity, Spastic paraparesis, Neonatal hypotonia OMIM:614877
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Myoclonus, Fasciculations, Tremor, Tongue fasciculations, Difficulty walking OMIM:159950
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Myoclonus, Spasticity OMIM:545000
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Babinski sign, Clumsiness, Ataxia, Impaired vibratory sensation, Limb ataxia, Ga... OMIM:609270
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degeneration OMIM:162100
Charcot-Marie-Tooth Disease, Type 4B2
Onion bulb formation, Decreased motor nerve conduction velocity, Steppage gait, Kyphoscoliosis, D... OMIM:604563
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus, Inability to wal... ORPHA:2590
Dystonia 9
Dystonia, Paresthesia, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Abnormal pyramidal sign OMIM:601042
Spinocerebellar Ataxia Type 36
Babinski sign, Limb myoclonus, Dysmetria, Hand tremor, Fasciculations, Intention tremor, Attentio... ORPHA:276198
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Dysmetria, Myoclonus, Spastic dysarthria, Oculomotor apraxia, Ataxia, Dysdiadochokinesi... ORPHA:313772
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Babinski sign, Rigidity, Myoclonus, Abnormality of extrapyramidal motor function... ORPHA:101150
Creutzfeldt-Jakob Disease
Myoclonus, Gait ataxia, Extrapyramidal muscular rigidity, Hemiparesis OMIM:123400
Osteomesopyknosis
Infertility OMIM:166450
Spastic Paraplegia 26, Autosomal Recessive
Dystonia, Babinski sign, Frequent falls, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, ... OMIM:609195
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Gait imbalance, Falls, Spastic dysarthria, Loss of ability to walk, Oculomotor apraxia, Freezing ... ORPHA:240094
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Kyphosis, Gait disturbance, Congenital muscular dystrophy ORPHA:1875
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Limb muscle weakness, Fasciculations, Tremor, Calf muscle hypertrophy, Decrea... OMIM:313200
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Babinski sign, Skeletal muscle atrophy, Limb muscle weak... OMIM:613954
Combined Oxidative Phosphorylation Deficiency 6
Involuntary movements, Ragged-red muscle fibers, Skeletal muscle atrophy, Fasciculations, Tetrapl... OMIM:300816
Marinesco-Sjogren Syndrome
Myopathy, Skeletal muscle atrophy, Failure to thrive, Rimmed vacuoles, Kyphosis, Ataxia, Flexion ... OMIM:248800
Spinocerebellar Ataxia Type 2
Postural tremor, Dystonia, Kinetic tremor, Chorea, Fasciculations, Progressive cerebellar ataxia,... ORPHA:98756
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Hyperkinetic movements ORPHA:397933
Spinocerebellar Ataxia Type 19/22
Impaired vibration sensation at ankles, Poor coordination, Cogwheel rigidity, Ataxia, Slurred spe... ORPHA:98772
Trichodental Dysplasia
Fine hair, Brittle hair, Sparse hair, Slow-growing hair OMIM:601453
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spinocerebellar Ataxia 17
Dystonia, Rigidity, Dysmetria, Chorea, Myoclonus, Bradykinesia, Intention tremor, Ataxia, Apraxia... OMIM:607136
Adrenomyeloneuropathy
Peripheral axonal degeneration, Male sexual dysfunction, Atrophy/Degeneration involving the corti... ORPHA:139399
Childhood-Onset Spasticity With Hyperglycinemia
Progressive spasticity, Babinski sign, Myoclonus, Spastic dysarthria, Ataxia, Spastic diplegia, H... ORPHA:401866
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Distal sensory impairment, Peripheral axonal degeneration, Decreased number of peripheral myelina... OMIM:608720
Epilepsy, Early-Onset, Vitamin B6-Dependent
Clonus, Myoclonus, Hypertonia OMIM:617290
Spastic Paraplegia 39, Autosomal Recessive
Babinski sign, Gait disturbance, Ataxia, Progressive spastic paraplegia OMIM:612020
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Brittle hair, Nail dysplasia, Sparse hair OMIM:211390
Pelizaeus-Merzbacher Disease, Classic Form
Athetosis, Dystonia, Dystonic gait, Head tremor, Abnormality of extrapyramidal motor function, Sp... ORPHA:280219
Lopes-Maciel-Rodan Syndrome
Dystonia, Cerebellar atrophy, Caudate atrophy, Bradykinesia, Kyphosis, Tremor, Cerebral atrophy, ... OMIM:617435
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Joubert Syndrome 25
Oculomotor apraxia, Ataxia, Generalized hypotonia OMIM:616781
Gm1-Gangliosidosis, Type Iii
Dystonia, Skeletal muscle atrophy, Platyspondyly, Kyphosis, Diffuse cerebral atrophy, Scoliosis, ... OMIM:230650
Ceroid Lipofuscinosis, Neuronal, 5
Clumsiness, Dysmetria, Myoclonus, Ataxia, Dysdiadochokinesis OMIM:256731
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Hyperkinetic movements, Lethargy OMIM:233910
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Myoclonus OMIM:618357
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Hyperlordosis, Increased variability in muscle fiber diameter, Flexion... OMIM:300718
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Sparse hair OMIM:272980
Nystagmus, Hereditary Vertical
Ataxia, Abnormal vestibulo-ocular reflex OMIM:164150
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Myoclonus OMIM:204500
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Small for gestational age, Kyphosis ORPHA:85288
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity, Spasticity, Muscula... OMIM:612716
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Trem... ORPHA:240103
Spinocerebellar Ataxia 13
Limb dysmetria, Progressive cerebellar ataxia, Generalized hypotonia, Hypotonia, Abnormal pyramid... OMIM:605259
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism, Spastic paraparesis ORPHA:329284
Schopf-Schulz-Passarge Syndrome
Small nail, Apocrine hidrocystoma, Onycholysis, Ridged nail, Thin nail, Narrow nail, Sparse hair,... OMIM:224750
Hypotrichosis And Rec