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,  SMCC1,  NMF355,  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 with warm-up phenomenon, Percussion myotonia, Handgrip myotonia, Myotonia, EMG: myotonic... OMIM:160800
Thomsen And Becker Disease
Myotonia ORPHA:614
Myotonia Congenita, Autosomal Recessive
Percussion myotonia, EMG: myotonic runs, Myotonia with warm-up phenomenon, Myotonia 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
Abasia, Ataxia, Inability to walk, Generalized hypotonia, Hypotonia OMIM:209100
Spastic Paraplegia 34, X-Linked
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Paraplegia, Clonus, Spastic gait OMIM:300750
Spastic Paraplegia 61, Autosomal Recessive
Spastic paraplegia, Scissor gait, Inability to walk, Spasticity OMIM:615685
Neuropathy, Hereditary Sensory, Atypical
Ataxia, Babinski sign, Sensory ataxia OMIM:256860
Spastic Paraplegia 24, Autosomal Recessive
Spastic paraplegia, Spasticity, Tip-toe gait, Clonus OMIM:607584
Neuhauser-Eichner-Opitz Syndrome
Hypertonia, Ataxia, Rigidity, Spasticity, Hypotonia ORPHA:2672
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Normokalemic Periodic Paralysis
Periodic paralysis, Percussion myotonia OMIM:170600
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance, Hypertonia ORPHA:256
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Hypotrichosis 1
Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Sparse axillary hair, Sparse pub... OMIM:605389
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Dystonia 15, Myoclonic
Writer's cramp, Myoclonus, Dystonia OMIM:607488
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Paramyotonia Congenita Of Von Eulenburg
Myotonia of the face, Paradoxical myotonia, Cold-sensitive myotonia, Myotonia, Periodic hypokalem... ORPHA:684
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Myotonia Congenita, Autosomal Dominant
Myotonia with warm-up phenomenon, Percussion myotonia, Handgrip myotonia, Myotonia, EMG: myotonic... OMIM:160800
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Spastic Paraplegia, Epilepsy, And Mental Retardation
Spastic paraplegia, Spastic paraparesis OMIM:182610
Hypotrichosis Simplex
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes ORPHA:55654
Myoclonus, Familial, 1
Frequent falls, Ataxia, Falls, Myoclonus OMIM:614937
Dystonia 6, Torsion
Torticollis, Oromandibular dystonia, Lingual dystonia, Laryngeal dystonia, Myoclonus, Writer's cr... OMIM:602629
Autosomal Recessive Spastic Paraplegia Type 43
Poor fine motor coordination, Spastic paraparesis, Impaired vibratory sensation, Babinski sign, G... ORPHA:320370
Spastic Ataxia 4, Autosomal Recessive
Babinski sign, Spastic ataxia, Spastic paraparesis OMIM:613672
Charcot-Marie-Tooth Disease Type 2B1
Inability to walk, Axonal degeneration, Proximal muscle weakness in lower limbs, Toe extensor amy... ORPHA:98856
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Spinocerebellar Ataxia Type 4
Ataxia, Impaired vibratory sensation, Gait disturbance, Impaired proprioception, Impaired tactile... ORPHA:98765
Posterior Column Ataxia
Impaired proprioception, Ataxia, Impaired vibratory sensation OMIM:176250
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Hand muscle atrophy, Distal lower limb amyotrophy, Achilles tendon contracture, Loss of ambulatio... ORPHA:324442
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Unsteady ... OMIM:616053
Spastic Ataxia With Congenital Miosis
Ataxia, Hemiplegia/hemiparesis, Spastic ataxia ORPHA:1182
Autosomal Recessive Spastic Paraplegia Type 24
Tip-toe gait, Spastic paraplegia, Scissor gait, Spasticity, Clonus ORPHA:101004
Episodic Ataxia Type 5
Ataxia, Truncal ataxia ORPHA:211067
Ataxia-Microcephaly-Cataract Syndrome
Ataxia, Generalized hypotonia, Hypotonia OMIM:208870
Loose Anagen Hair Syndrome
Loose anagen hair, Fair hair, Sparse hair OMIM:600628
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Appendicular hypotonia, Ataxia, Inability to walk, Hypotonia OMIM:619333
Myelopathy, Htlv-1-Associated
Abnormal pyramidal sign, Spastic paraparesis OMIM:159580
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Tapetoretinal Degeneration With Ataxia
Ataxia OMIM:272600
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration, Scoliosis, Distal sensory impairment, Foot dorsiflexor weakness, Gait distur... OMIM:616155
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait atax... ORPHA:423275
Spastic Paraparesis-Deafness Syndrome
Ataxia, Hemiplegia/hemiparesis, Spastic paraparesis, Gait disturbance, Impaired pain sensation ORPHA:2815
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Rippling Muscle Disease 1
Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:600332
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Generalized hypotonia, Hypotonia OMIM:213000
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Tip-toe gait, Axonal degeneration, Decreased motor nerve conduction velocity, Distal sensory impa... OMIM:614436
X-Linked Complicated Spastic Paraplegia Type 1
Spastic paraplegia, Ataxia, Upper motor neuron dysfunction ORPHA:306617
Alpers-Huttenlocher Syndrome
Paraparesis, Ataxia, Spastic paraparesis, Myoclonus, Progressive spasticity, Choreoathetosis, Spa... ORPHA:726
Cerebellar Ataxia, Cayman Type
Broad-based gait, Intention tremor, Nonprogressive cerebellar ataxia, Generalized hypotonia, Trun... ORPHA:94122
Hypotrichosis 11
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... OMIM:615059
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Isolated Cerebellar Agenesis
Hypertonia, Ataxia, Hypotonia ORPHA:1398
Autosomal Spastic Paraplegia Type 30
Ataxia, Babinski sign, Distal sensory impairment, Somatic sensory dysfunction, Progressive spasti... ORPHA:101010
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Oocyte Maturation Defect 3
Infertility OMIM:617712
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Spermatogenic Failure 17
Infertility OMIM:617214
Thomsen And Becker Disease
Myotonia ORPHA:614
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Hypotrichosis 4
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair OMIM:146550
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis, Peripheral axonal neuropathy, Distal sensory impairment, Foot dorsiflexor we... OMIM:617087
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia, Hypotonia ORPHA:1397
Charcot-Marie-Tooth Disease, Type 4A
Inability to walk by childhood/adolescence, Kyphoscoliosis, Decreased sensory nerve conduction ve... OMIM:214400
Mast Syndrome
Spastic paraparesis, Babinski sign, Spastic paraplegia, Gait disturbance, Apraxia OMIM:248900
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Developmental Delay With Dysmorphic Facies And Dental Anomalies
Ataxia, Spasticity, Hypotonia OMIM:619228
Hyperkalemic Periodic Paralysis
Myotonia, Periodic hyperkalemic paralysis OMIM:170500
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Pa... ORPHA:98810
Cerebellar Ataxia, Cayman Type
Broad-based gait, Intention tremor, Generalized hypotonia, Gait ataxia, Hypotonia OMIM:601238
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Decreased nerve conduction velocity, Internally nucleated skeletal muscle fibers, Axona... OMIM:618138
Cerebellar Ataxia And Ectodermal Dysplasia
Ataxia, Sparse hair, Alopecia OMIM:212835
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait OMIM:616921
Progressive Myoclonic Epilepsy Type 1
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus ORPHA:308
Myotonia Congenita, Autosomal Recessive
Percussion myotonia, EMG: myotonic runs, Myotonia with warm-up phenomenon, Myotonia OMIM:255700
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Ataxia, Choreoathetosis, Spastic paraparesis ORPHA:67047
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Hypotrichosis 10
Sparse body hair, Sparse eyebrow, Sparse eyelashes OMIM:614238
Maple Syrup Urine Disease
Ataxia, Hemiplegia/hemiparesis, Hypotonia ORPHA:511
Brody Disease
Flexion contracture, Skeletal muscle hypertrophy, Myotonia, Percussion myotonia, Somatic sensory ... OMIM:601003
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Infantile muscular hypotonia, Myoclonus, Rigidity, Progressive e... OMIM:612736
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Hand muscle weakness, Dysmetria, Axonal degeneration, Hand tremor, Onion bulb formation, Decrease... 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
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Loss of ambulation, Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in m... ORPHA:34516
Richieri Costa-Da Silva Syndrome
Beaking of vertebral bodies, Kyphoscoliosis, Inability to walk, Distal lower limb muscle weakness... ORPHA:3101
Zebra Body Myopathy
Torticollis, Muscle fiber necrosis, Nemaline bodies, EMG: myopathic abnormalities, Rimmed vacuole... ORPHA:97240
Witkop Syndrome
Sparse hair, Ridged nail, Fine hair, Concave nail, Nail pits, Small nail OMIM:189500
Mitochondrial Dna Depletion Syndrome 18
Failure to thrive, Axonal degeneration, Weakness of facial musculature, Hand muscle atrophy, Scol... OMIM:618811
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... ORPHA:101108
Rippling Muscle Disease 2
Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:606072
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Broad-based gait, Lumbar hyperlordosis, Increased endomysial connective tissue, Tip-toe gait, Rig... ORPHA:353
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... OMIM:606482
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Ataxia OMIM:619061
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98863
Autosomal Recessive Spastic Paraplegia Type 27
Spastic paraplegia, Impaired vibration sensation at ankles, Dysdiadochokinesis, Babinski sign ORPHA:101007
Myoclonus-Dystonia Syndrome
Torticollis, Spinal myoclonus, Myoclonus, Limb myoclonus, Writer's cramp, Dystonia ORPHA:36899
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Decreased number of large peripheral myelinated nerve fibers, Ataxia, Loss of ambulation, Limb at... OMIM:208920
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Intention tremor, Myoclonus, Progressive cerebellar ataxia, Progressive gait ataxia ORPHA:2589
Neuronopathy, Distal Hereditary Motor, Type Iib
Paralysis OMIM:608634
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... OMIM:614561
Phosphoserine Phosphatase Deficiency
Hypertonia, Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Charcot-Marie-Tooth Disease, Type 4C
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... OMIM:601596
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Epilepsy, Familial Adult Myoclonic, 7
Myoclonic tremor OMIM:618075
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
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
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor, Neonatal hypotonia OMIM:300703
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia OMIM:254950
Episodic Ataxia Type 1
Kyphoscoliosis, Tip-toe gait, Calf muscle hypertrophy, Scoliosis, Choreoathetosis, Cerebellar atr... ORPHA:37612
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Ataxia, Gait disturbance, Tremor, Impaired pain sensation ORPHA:99014
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
Paramyotonia Congenita Of Von Eulenburg
Percussion myotonia, Paradoxical myotonia, Handgrip myotonia OMIM:168300
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis, Myotonia OMIM:170400
Laryngeal Abductor Paralysis
Paralysis OMIM:308850
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Spastic Paraplegia 79, Autosomal Recessive
Ataxia, Dysmetria, Flexion contracture, Intention tremor, Ankle clonus, Myotonia, Babinski sign, ... OMIM:615491
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Spinocerebellar Ataxia 41
Ataxia, Unsteady gait OMIM:616410
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Abnormal fingernai... ORPHA:2722
Intellectual Developmental Disorder, Autosomal Dominant 56
Paraparesis, Ataxia, Generalized hypotonia, Spasticity OMIM:617854
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Ataxia, Kyphoscoliosis, Cerebral atrophy, Peripheral hypomyelination, Axonal degeneration, Hyperg... OMIM:604168
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, Distal sensory impairment,... OMIM:604484
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Dystonia OMIM:125370
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ataxia, Inability to walk, Generalized hypotonia, Athetosis, Hypotonia, Dystonia, Abnormality of ... OMIM:615159
Spinocerebellar Ataxia 45
Ataxia, Gait ataxia, Limb ataxia OMIM:617769
Ectodermal Dysplasia 9, Hair/Nail Type
Nail dysplasia, Atrichia, Absent hair, Sparse hair, Absent eyelashes, Nail dystrophy, Concave nail OMIM:614931
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair OMIM:616760
Dystonia 23
Torticollis, Axial dystonia, Myoclonus, Head tremor, Writer's cramp, Limb dystonia OMIM:614860
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramidal sign, Truncal ataxia, G... ORPHA:95434
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Distal sensory impairment, Steppage gait OMIM:302802
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... OMIM:606693
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Ataxia, Scoliosis, Gait disturbance, Tremor, Distal upper limb amyotrophy, Distal lower... ORPHA:101075
Developmental And Epileptic Encephalopathy 38
Hypertonia, Ataxia, Generalized hypotonia, Dystonia OMIM:617020
Spinocerebellar Ataxia, Autosomal Recessive 6
Ataxia, Clumsiness, Dysmetria, Intention tremor, Generalized hypotonia, Gait ataxia, Spasticity, ... OMIM:608029
Episodic Ataxia, Type 8
Intention tremor, Ataxia, Slurred speech, Episodic ataxia OMIM:616055
Infantile Spasms Syndrome
Myoclonus ORPHA:3451
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait, Hypotonia OMIM:617917
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Intention tremor, Babinsk... ORPHA:284332
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Geniospasm 1
Chin myoclonus OMIM:190100
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Skeletal muscle hypertrophy, Myotonia, Vertebral wedging, Firm muscles OMIM:255710
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus OMIM:217200
Muscular Dystrophy, Barnes Type
Myotonia OMIM:158800
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse pubic hair, Sparse axillary hair ORPHA:505
Spinocerebellar Ataxia, Autosomal Recessive 22
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Lowe... OMIM:616948
Spinocerebellar Ataxia 35
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... OMIM:613908
Choreoathetosis, Familial Inverted
Gait disturbance, Rigidity, Abnormal pyramidal sign, Progressive choreoathetosis OMIM:118750
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Impaired distal proprioception ORPHA:231445
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Limb ataxia OMIM:617133
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Babinski sign, Truncal ataxia, Dysmetria OMIM:617584
Myotonia Permanens
Generalized muscle hypertrophy, Skeletal muscle hypertrophy, Hyperlordosis, Gait disturbance, Myo... ORPHA:99735
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Cerebral atrophy, Dysmetria, Axonal degeneration, Dysdiadochokinesis, Neurodegeneration, ... OMIM:615157
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus OMIM:604827
Gordon Holmes Syndrome
Oligomenorrhea, Infertility, Ataxia, Hypogonadotropic hypogonadism OMIM:212840
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Myopathy, X-Linked, With Excessive Autophagy
Flexion contracture, Proximal muscle weakness in lower limbs, Scoliosis, Myotonia, Skeletal muscl... OMIM:310440
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Peripheral axonal atrophy, Kyphoscoliosis, Onion bulb formation, Decreased motor nerve conduction... OMIM:605588
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased endomysial connective tissue, Flexion contracture of finger, Proximal muscle weakness i... ORPHA:206549
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Spastic paraparesis, Myoclonus, Babinski sign, Frequent falls, Pro... ORPHA:254343
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Ony... ORPHA:1808
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Inability to walk, Opisthotonus, Babi... OMIM:607483
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, Clumsiness, EMG: myopathic abnormalities, Increased variability in... ORPHA:488650
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Pili torti, Sparse hair, Reduced terminal:vellus ratio OMIM:601553
Horner Syndrome, Congenital
Paralysis OMIM:143000
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Spinocerebellar Ataxia Type 35
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... ORPHA:276193
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Fasciculations OMIM:613728
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Axonal degeneration, Arthrogryposis-like hand anomaly, Diaphragmatic eventration, Peripheral axon... OMIM:620011
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Scoliosis, Lower limb muscle weakness, Gait disturbance, Skeletal muscle atrophy OMIM:611225
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Ataxia, Decreased nerve conduction velocity, Scoliosis, Gait disturbance, Tremor, Impai... ORPHA:101078
Dystonia 11, Myoclonic
Torticollis, Tremor, Myoclonus, Writer's cramp OMIM:159900
Episodic Ataxia, Type 2
Progressive cerebellar ataxia, Paresthesia, Myotonia, Dystonia, Episodic ataxia OMIM:108500
Spinal Muscular Atrophy, Jokela Type
Calf muscle hypertrophy, Distal sensory impairment, Spinal muscular atrophy, Tremor, Fasciculatio... OMIM:615048
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Peripher... OMIM:602433
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance ORPHA:228169
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Unsteady gait, Skeletal musc... ORPHA:101097
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Tremor, Cogwheel rigidity, ... ORPHA:363710
Myotonia Fluctuans
Myotonia of the face, Myotonia with warm-up phenomenon, Spasticity of facial muscles, Myotonia of... ORPHA:99734
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Ataxia, Flexion contracture of finger, Truncal titubation, Axonal degeneration, Impaire... ORPHA:88628
Acetazolamide-Responsive Myotonia
Gait disturbance, Myotonia, Skeletal muscle hypertrophy ORPHA:99736
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Generalized hypotonia, Tremor, Gait ataxia, Spasticity, Unsteady ... OMIM:213200
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Vocal tremor, Oromandibular dystonia, Blepharospasm, Hand tremor, Myoclonus, Upper l... ORPHA:420485
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Autosomal Dominant Spastic Paraplegia Type 73
Impaired vibration sensation in the lower limbs, Babinski sign, Difficulty walking, Progressive s... ORPHA:444099
Developmental And Epileptic Encephalopathy 37
Myoclonus, Hyperkinetic movements, Rigidity, Chorea, Gait disturbance, Cogwheel rigidity, Choreoa... OMIM:616981
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h... ORPHA:3361
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Ataxia, Generalized hypotonia ORPHA:404493
Epilepsy, Progressive Myoclonic, 11
Intention tremor, Ataxia, Rigidity, Myoclonus OMIM:618876
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Myoclonus, Chorea, Craniofacial dystonia, Involuntary movements, Spasticity, Dystonia OMIM:617282
Lower Motor Neuron Syndrome With Late-Adult Onset
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... ORPHA:276435
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Hypotonia ORPHA:22
Neurodegeneration With Brain Iron Accumulation 6
Oromandibular dystonia, Bradykinesia, Spastic paraparesis, Tip-toe gait, Rigidity, Gait disturban... OMIM:615643
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia ORPHA:101005
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Falls, Gait disturbance, Choreoathetosis OMIM:616230
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Inability to walk, Axonal degeneration, Peripheral axonal neuropathy, Decreased... OMIM:615490
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... ORPHA:314978
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia OMIM:608105
Pleoconial Myopathy With Salt Craving
Paralysis OMIM:262900
Encephalopathy, Recurrent, Of Childhood
Intention tremor, Babinski sign, Generalized hypotonia, Truncal ataxia, Chorea, Athetosis, Choreo... OMIM:130950
Alternating Hemiplegia Of Childhood 2
Hemiplegia, Ataxia, Episodic quadriplegia, Choreoathetosis, Dystonia, Tetraplegia OMIM:614820
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Charcot-Marie-Tooth Disease Type 1A
Spontaneous pain sensation, Gait imbalance, Kyphoscoliosis, Sensory ataxia, Decreased sensory ner... ORPHA:101081
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... OMIM:118210
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Myoclonus OMIM:208700
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... ORPHA:189
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia, Sparse body hair, Onychogryposis of toenails, Dystrophic toenail, Alopecia of scalp OMIM:617294
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:168100
Benign Adult Familial Myoclonic Epilepsy
Myoclonus, Hand tremor ORPHA:86814
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Rigidity, Spasticity, Fasciculations OMIM:183050
Striatonigral Degeneration, Infantile, Mitochondrial
Lingual dystonia, Motor tics, Babinski sign, Myoclonus, Chorea, Frequent falls, Clonus, Poor moto... OMIM:500003
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic tetraparesis, Generalized hypotonia, Progressive spastic paraparesis, Spastic ataxia ORPHA:496756
Ectodermal Dysplasia 4, Hair/Nail Type
Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con... OMIM:602032
Frontotemporal Dementia With Motor Neuron Disease
Paraparesis, Progressive cerebellar ataxia, Babinski sign, Parkinsonism, Weakness due to upper mo... ORPHA:275872
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Myotonia ORPHA:371
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Ataxia, Loss of ambulation, Scoliosis, Peripheral axonal neuropathy, Distal sensory imp... OMIM:618124
Spastic Paraplegia 30, Autosomal Dominant
Ataxia, Dysmetria, Ankle clonus, Babinski sign, Spastic paraplegia, Spastic gait, Lower limb spas... OMIM:610357
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia OMIM:616291
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Facial Onset Sensory And Motor Neuronopathy
Fasciculations ORPHA:85162
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Ataxia, Dysmetria, Limb ataxia, Scoliosis, Peripheral axonal neuropathy, Gait ataxia, C... OMIM:610743
Roussy-Lévy Syndrome
Kyphoscoliosis, Intrinsic hand muscle atrophy, Limb ataxia, Impaired vibratory sensation, Decreas... ORPHA:3115
Myofibrillar Myopathy 10
Kyphosis, Ankle flexion contracture, Flexion contracture of finger, EMG: myopathic abnormalities,... OMIM:619040
Hypotrichosis 8
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... OMIM:278150
Spastic Paraplegia 10, Autosomal Dominant
Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... OMIM:604187
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonus, Choreoathetosis, Hyperkinetic movements, Dystonia OMIM:618497
Glut1 Deficiency Syndrome 1
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis OMIM:606777
Hypotrichosis 7
Sparse scalp hair, Woolly hair, Sparse hair, Brittle hair, Sparse axillary hair, Sparse eyelashes... OMIM:604379
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... OMIM:607346
Spastic Paraplegia 48, Autosomal Recessive
Broad-based gait, Ataxia, Dysmetria, Parkinsonism, Spastic paraplegia, Spastic gait, Lower limb s... OMIM:613647
Spinocerebellar Ataxia, Autosomal Recessive 17
Broad-based gait, Appendicular hypotonia, Ataxia, Clumsiness, Dysmetria, Limb ataxia, Intention t... OMIM:616127
Dystonia 31
Leg dystonia, Parkinsonism, Craniofacial dystonia, Writer's cramp, Abnormal posturing, Arm dyston... OMIM:619565
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Ataxia, Kyphoscoliosis, Peripheral axonal neuropathy, Distal amyotrophy, Tremor OMIM:619099
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... OMIM:613135
Roussy-Levy Hereditary Areflexic Dystasia
Kyphoscoliosis, Action tremor, Segmental peripheral demyelination/remyelination, Onion bulb forma... OMIM:180800
Developmental And Epileptic Encephalopathy 69
Dystonia, Myoclonus, Hyperkinetic movements, Spastic tetraplegia OMIM:618285
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Gait ataxia, Paralysis OMIM:606183
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Failure to thrive, Decreased nerve conduction velocity, Axonal degeneration, Small for gestationa... OMIM:604320
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Babinski sign, Limb fasciculations, Spastic paraplegia, Gait disturbance, Spastic gait, Tongue fa... ORPHA:329475
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Kyphosis, Ataxia, Inability to walk, Lumbar hyperlordosis, Cerebral atrophy, Sc... OMIM:616756
Angioma Serpiginosum, X-Linked
Fine hair, Sparse hair, Nail dystrophy OMIM:300652
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Clumsiness, Infantile muscular hypotonia, Dysmetria, Intention tremor, Babinski sign, Nonprogress... ORPHA:453521
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... ORPHA:99
Asherman Syndrome
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... ORPHA:137686
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Myoclonus, Oculogyric crisis, Hyperkinetic movements, Chorea, Spasticity, Dystonia OMIM:614254
Neurodevelopmental Disorder With Involuntary Movements
Hyperkinetic movements, Chorea, Athetosis, Involuntary movements, Spasticity, Dystonia OMIM:617493
Hereditary Geniospasm
Chin myoclonus ORPHA:53372
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Impaired distal tactile sensation, Flexion contracture, Proximal muscle weakness in lower limbs, ... OMIM:607706
Porphyria, Acute Hepatic
Paralysis, Respiratory paralysis OMIM:612740
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Spastic Paraplegia 76, Autosomal Recessive
Ataxia, Dysmetria, Babinski sign, Distal sensory impairment, Spastic paraplegia, Difficulty walki... OMIM:616907
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Spastic paraplegia, Choreoathetosis, Paresthesia, Paroxysmal dyskinesia,... ORPHA:53583
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function OMIM:615362
Neurodegeneration With Brain Iron Accumulation 7
Loss of ambulation, Ataxia, Dysmetria, Generalized hypotonia, Spasticity OMIM:617916
Striatal Degeneration, Autosomal Dominant 1
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance OMIM:609161
Vitamin B12-Unresponsive Methylmalonic Acidemia
Paraparesis, Ataxia, Tetraparesis, Choreoathetosis, Hypotonia ORPHA:27
Monilethrix
Nail dysplasia, Abnormality of hair texture, Sparse hair, Brittle hair, Alopecia, Nail dystrophy OMIM:158000
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Paraparesis, Extrapyramidal dyskinesia, Parkinsonism, Tetraparesis, Apraxia OMIM:105550
Hyperkalemic Periodic Paralysis
Hypertonia, Flexion contracture, Skeletal muscle hypertrophy, Cerebral palsy, Myotonia, Paresthes... ORPHA:682
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... ORPHA:79262
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Dysmetria, Generalized hypotonia, Rigidity, Gait disturbance, Tremor OMIM:618090
Combined Saposin Deficiency
Myoclonus, Babinski sign, Hyperkinetic movements, Fasciculations OMIM:611721
Dystonia With Ringbinden
Gait disturbance, Dystonia, Chorea OMIM:224550
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Laryngeal dystonia, Myoclonus, Dystonia OMIM:616398
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Broad-based gait, Kyphosis, Hip contracture, Tip-toe gait, Proximal muscle weakness in lower limb... OMIM:615290
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis ORPHA:640
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Oromotor apraxia, Parkinso... ORPHA:454887
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility OMIM:136580
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dystonia OMIM:615924
Schwartz-Jampel Syndrome, Type 1
Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Joint contracture of the hand, Skeletal mu... OMIM:255800
Hair Defect With Photosensitivity And Mental Retardation
Sparse hair, Sparse eyebrow, Brittle hair, Sparse eyelashes, Coarse hair OMIM:234030
Spastic Paraplegia, Ataxia, And Mental Retardation
Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... OMIM:607565
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Fasciculations OMIM:608030
Primary Angiitis Of The Central Nervous System
Paraparesis, Ataxia, Parkinsonism, Hemiparesis, Tetraparesis, Paralysis ORPHA:140989
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, Myoclonus, Difficulty walking, Spasticity OMIM:617829
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Dysmetria, Short stature, Intention tremor, Tip-toe gait, Babinsk... ORPHA:397946
Paroxysmal Exertion-Induced Dyskinesia
Ataxia, Chorea, Choreoathetosis, Involuntary movements, Torsion dystonia, Paresthesia, Paroxysmal... ORPHA:98811
Myotonia, Potassium-Aggravated
Myotonia OMIM:608390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Tip-toe gait, Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic ... OMIM:606612
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Hip contracture, Nonprogressive muscular atrophy, Scoliosis, Hyperlordosis, Spinal musc... OMIM:600175
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Paralysis OMIM:105500
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea, Choreoathetosis, S... ORPHA:71277
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Hypertonia, Ataxia, Bradykinesia, Opisthotonus, Myoclonus, Oculogyric crisis, Rigidity, Hyperkine... ORPHA:13
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Limb fasciculations, Lower limb muscle weakness, Distal lower limb amyotrophy, Upper limb amyotro... ORPHA:99940
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Leukodystrophy, Hypomyelinating, 9
Ataxia, Dysmetria, Intention tremor, Spasticity, Abnormality of extrapyramidal motor function OMIM:616140
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... OMIM:619733
Spastic Ataxia 5, Autosomal Recessive
Ataxia, Spastic paraparesis, Dysmetria, Myoclonus, Dysdiadochokinesis, Spasticity, Oculomotor apr... OMIM:614487
Neuronopathy, Distal Hereditary Motor, Type Iid
Lower limb amyotrophy, Lower limb muscle weakness, Spinal muscular atrophy, Weakness of the intri... OMIM:615575
Monilethrix
Abnormal eyebrow morphology, Sparse hair, Patchy alopecia, Brittle hair, Abnormal eyelash morphol... ORPHA:573
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Kyphoscoliosis, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased... OMIM:118220
Spinocerebellar Ataxia 5
Dysmetria, Limb ataxia, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis, Gener... OMIM:600224
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Tetraplegia/tetraparesis, Ankle clonus, Babinski sign, Progressive spasticity, Progressive spasti... ORPHA:506353
Idiopathic Camptocormia
Spinal canal stenosis, Amyotrophic lateral sclerosis, Cerebral atrophy, EMG: myopathic abnormalit... ORPHA:1320
Valinemia
Hyperkinetic movements OMIM:277100
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Myoclonus, Craniofacial dys... OMIM:617284
Adrenoleukodystrophy
Paraparesis, Impaired vibration sensation at ankles, Limb ataxia, Truncal ataxia, Spastic paraple... OMIM:300100
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Motor stereotypy, Myotonia, Premature ovarian insufficiency, Short stature ORPHA:391307
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... ORPHA:363654
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Truncal ataxia, Spastic paraparesis OMIM:113610
Mitochondrial Complex I Deficiency, Nuclear Type 17
Ataxia, Generalized hypotonia, Rigidity, Gait disturbance, Dystonia OMIM:618239
Joubert Syndrome 24
Ataxia, Dysmetria, Generalized hypotonia, Gait disturbance, Spasticity, Hypotonia OMIM:616654
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Nemaline Myopathy 4
Facial diplegia, Nemaline bodies, Kyphoscoliosis, Flexion contracture, Type 1 muscle fiber predom... OMIM:609285
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia universalis, Abnormal eyelash morphology, Sparse body hair ORPHA:1008
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Ataxia, Inability to walk, Dysmetria, Chorea, Gait ataxia, Axial hypotonia OMIM:618501
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus OMIM:102300
Spinal Muscular Atrophy, Type Iii
Hand tremor, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Limb fasciculations, Lower ... OMIM:253400
Spermatogenic Failure 12
Azoospermia, Infertility OMIM:615413
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Loss of ambulation, Spinal rigidity, Skeletal muscle hypertrophy, Proximal muscle weakness in low... OMIM:619566
Salla Disease
Ataxia, Inability to walk, Generalized hypotonia, Athetosis, Spasticity, Hypotonia OMIM:604369
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... ORPHA:391411
Spastic Paraplegia 75, Autosomal Recessive
Neonatal hypotonia, Spastic paraparesis, Dysmetria, Babinski sign, Spastic dysarthria, Hypotonia OMIM:616680
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
X-Linked Adrenoleukodystrophy
Paraparesis, Clumsiness, Hemiparesis, Gait disturbance, Somatic sensory dysfunction, Progressive ... ORPHA:43
Oculotrichodysplasia
Nail dysplasia, Sparse scalp hair, Sparse axillary hair, Sparse eyelashes, Fragile nails, Sparse ... OMIM:257960
Ataxia-Oculomotor Apraxia 4
Oculomotor apraxia, Ataxia, Dystonia, Tetraplegia OMIM:616267
Epilepsy, Progressive Myoclonic, 12
Myoclonus, Ataxia, Difficulty walking, Dysmetria OMIM:619191
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... ORPHA:98762
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Gait ataxia ORPHA:98763
Trichothiodystrophy 9, Nonphotosensitive
Ataxia, Sparse hair, Sparse eyebrow, Tiger tail banding, Nail dystrophy OMIM:619692
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis OMIM:605285
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Motor axonal neuropathy, Ataxia, Cerebral cortical atrophy, Kyphosis, Dysmetria, Intention tremor... ORPHA:48431
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Ataxia, Short stature OMIM:616113
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Spastic paraparesis, Gait disturbance, Tremor, Difficulty walking, Somatic sen... ORPHA:101077
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Hypertrophic Neuropathy Of Dejerine-Sottas
Broad-based gait, Kyphoscoliosis, Myelin tomacula, Decreased sensory nerve conduction velocity, S... OMIM:145900
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus OMIM:162350
Spinocerebellar Ataxia, Autosomal Recessive 18
Ataxia, Dysmetria, Dysdiadochokinesis, Babinski sign, Truncal ataxia, Incoordination, Gait ataxia... OMIM:616204
Familial Dyskinesia And Facial Myokymia
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Dystonia ORPHA:324588
Hypotrichosis 12
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Dry hair, Sparse or absent eyelashes, Slow-growin... OMIM:615885
Charcot-Marie-Tooth Disease, Type 4K
Ataxia, Kyphoscoliosis, Difficulty walking, Skeletal muscle atrophy, Dystonia, Peripheral demyeli... OMIM:616684
Woolly Hair
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... ORPHA:170
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Infertility, Cerebral atrophy, Impaired vibration sensation in the lower limbs, Upper l... OMIM:614409
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Dystonia OMIM:619651
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Ataxia, Inability to walk, Generalized hypotonia, Unsteady gait, Oculomotor apraxia OMIM:618273
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Leukonychia, Woolly hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:616099
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis OMIM:613710
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Ceroid Lipofuscinosis, Neuronal, 8
Ataxia, Myoclonus OMIM:600143
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Impaired vib... ORPHA:284324
Spinocerebellar Ataxia, Autosomal Recessive 26
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... OMIM:617633
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Hypertonia, Ataxia, Clumsiness, Intrinsic hand muscle atrophy, Babinski sign, Abnormal pyramidal ... OMIM:616688
Neuronopathy, Distal Hereditary Motor, Type Viib
Vocal cord paralysis OMIM:607641
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Kyphoscoliosis, Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldin... OMIM:118200
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Decreased body weight, Waddling gait, Small for gestational age OMIM:618392
Spinocerebellar Ataxia 44
Ataxia, Dysmetria, Dysdiadochokinesis, Frequent falls, Gait ataxia, Spasticity OMIM:617691
Joubert Syndrome 27
Oculomotor apraxia, Ataxia, Generalized hypotonia OMIM:617120
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Ataxia, Exaggerated startle response, Ankle clonus, Babinski sign, Abnormal pyramidal... OMIM:618598
Spastic Paraplegia 20, Autosomal Recessive
Upper limb spasticity, Spastic paraparesis, Dysmetria, Ankle clonus, Knee clonus, Babinski sign, ... OMIM:275900
Mental Retardation, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Ataxia, Limb ataxia, Truncal ataxia, Gait disturbance, Unsteady gait ORPHA:284271
Spinocerebellar Ataxia 32
Infertility, Ataxia, Testicular atrophy, Azoospermia OMIM:613909
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Dysmetria, Myoclonus, Tremor, Lower limb spasticity, Impaired tandem gait OMIM:619028
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Dystonia OMIM:261630
Myotonic Dystrophy 1
Facial diplegia, Testicular atrophy, Cerebral atrophy, Hypogonadism, Myotonia OMIM:160900
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, Ab... ORPHA:1818
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Bradykinesia, Dysmetria, Abnormal pyramidal sign, Parkinsonism, Chorea, Dystonia OMIM:618317
Aredyld
Generalized hypotrichosis OMIM:207780
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Autosomal Recessive Spastic Paraplegia Type 48
Broad-based gait, Ataxia, Myoclonus, Parkinsonism, Progressive spastic paraplegia, Spastic gait, ... ORPHA:306511
Hsd10 Disease
Ataxia, Infantile muscular hypotonia, Spastic paraparesis, Myoclonus, Rigidity, Gait disturbance,... ORPHA:391417
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Inability to walk, Hyperkinetic movements, Choreoathetosis, Involuntary... OMIM:618218
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Myotonic Dystrophy 2
Type 2 muscle fiber atrophy, Weakness of facial musculature, Oligospermia, Handgrip myotonia, Hyp... OMIM:602668
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations OMIM:271200
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Inability to walk, Exaggerated startle response, Flexion contracture, Scoliosis, Sensor... OMIM:609541
Congenital Arthrogryposis With Anterior Horn Cell Disease
Facial diplegia, Kyphosis, Inability to walk, Cerebral atrophy, Short neck, Scoliosis, Peripheral... OMIM:611890
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Flexion contracture, Rimmed vacuoles, Short neck, Scoliosis, Increased... OMIM:300718
Tooth Agenesis, Selective, 8
Sparse hair, Sparse eyebrow OMIM:617073
X-Linked Spinocerebellar Ataxia Type 3
Ataxia, Hypotonia ORPHA:85297
Foxg1 Syndrome
Motor stereotypy, Inability to walk, Short stature, Severe postnatal growth retardation, Myoclonu... ORPHA:561854
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Skeletal muscle hypertrophy, Scoliosis, Peripheral axonal ne... ORPHA:101082
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Epilepsy, Progressive Myoclonic, 6
Loss of ambulation, Ataxia, Myoclonus, Tremor, Difficulty walking OMIM:614018
Hyperprolactinemia
Infertility, Oligomenorrhea, Menorrhagia OMIM:615555
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Ataxia, Sparse hair ORPHA:1174
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Dystonia ORPHA:139406
Spinocerebellar Ataxia 29
Broad-based gait, Truncal titubation, Dysmetria, Limb ataxia, Intention tremor, Dysdiadochokinesi... OMIM:117360
Urocanic Aciduria
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Gait ataxia ORPHA:210128
Developmental And Epileptic Encephalopathy 16
Dystonia, Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis OMIM:615338
Coasy Protein-Associated Neurodegeneration
Oromandibular dystonia, Difficulty walking, Parkinsonism, Spastic paraparesis ORPHA:397725
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... OMIM:617145
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Epilepsy, Progressive Myoclonic, 9
Myoclonus, Gait ataxia OMIM:616540
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Back pain, Spinal rigidity, Skeletal muscle hypertrophy, EMG: myopathic a... OMIM:300696
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Ataxia, Upper motor neuron dysfunction, Clumsiness, Loss of ambulation, Spastic parap... ORPHA:206443
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus OMIM:612016
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Inability to walk, Myoclonus, Limb myoclonus, Frequent falls, Tremor, Difficulty walk... ORPHA:2590
Crandall Syndrome
Pili torti, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair ORPHA:202
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Myopathy, Generalized amyotrophy OMIM:618323
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Loss of ambulation, Fasciculations, Tongue fasciculations OMIM:613435
Hypotrichosis 6
Pili torti, Sparse hair, Sparse eyebrow, Brittle hair, Sparse eyelashes OMIM:607903
Variegate Porphyria
Paralysis OMIM:176200
Charcot-Marie-Tooth Disease Type 4D
Kyphoscoliosis, Inability to walk, Decreased motor nerve conduction velocity, Lower limb amyotrop... ORPHA:99950
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Short stature, Spastic diplegia, Myoclonus, Babinski sign OMIM:619065
Spinocerebellar Ataxia, Autosomal Recessive 7
Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Postur... OMIM:609270
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Athetosis OMIM:300857
Amyotrophy, Hereditary Neuralgic
Skeletal muscle atrophy, Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Calf muscle hypertrophy, Tremor, Limb muscle weakness, Fasciculations, Decrea... OMIM:313200
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Spasticity, Myoclonus OMIM:545000
Developmental And Epileptic Encephalopathy 40
Myoclonus, Choreoathetosis, Spasticity, Spastic tetraparesis, Intrauterine growth retardation OMIM:617065
Parastremmatic Dwarfism
Kyphosis, Short neck, Scoliosis, Flexion contracture OMIM:168400
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Charcot-Marie-Tooth Disease, Type 4B2
Kyphoscoliosis, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased... OMIM:604563
Primary Lateral Sclerosis
Babinski sign, Weakness due to upper motor neuron dysfunction, Spastic dysarthria, Progressive sp... ORPHA:35689
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Dystonia OMIM:233910
Creutzfeldt-Jakob Disease
Myoclonus, Gait ataxia, Hemiparesis, Extrapyramidal muscular rigidity OMIM:123400
Dystonia 9
Abnormal pyramidal sign, Spastic paraplegia, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia OMIM:601042
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Ataxia, Failure to thrive, Facial myokymia OMIM:620007
X-Linked Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:53351
Peroxisome Biogenesis Disorder 8B
Ataxia, Neonatal hypotonia, Spastic paraparesis, Dysmetria, Spasticity OMIM:614877
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Failure to thrive, Impaired vibratory sensation, Limb dystonia, Impaired proprioception... ORPHA:319199
Osteomesopyknosis
Infertility OMIM:166450
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Ataxia, Impaired vibration sensation at ankles, Limb ataxia, Poor coordination,... ORPHA:98772
Marinesco-Sjogren Syndrome
Kyphosis, Ataxia, Failure to thrive, Limb ataxia, Flexion contracture, Hypergonadotropic hypogona... OMIM:248800
Familial Infantile Bilateral Striatal Necrosis
Hypertonia, Ataxia, Loss of ambulation, Myoclonus, Babinski sign, Rigidity, Tetraparesis, Frequen... ORPHA:225154
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Gait disturbance, Kyphosis, Congenital muscular dystrophy, Hypogonadism ORPHA:1875
Spinocerebellar Ataxia Type 2
Progressive cerebellar ataxia, Parkinsonism, Fasciculations, Chorea, Kinetic tremor, Gait ataxia,... ORPHA:98756
Trichodental Dysplasia
Fine hair, Sparse hair, Brittle hair, Slow-growing hair OMIM:601453
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Peripheral axo... OMIM:608720
Developmental And Epileptic Encephalopathy 82
Neonatal hypotonia, Inability to walk, Spastic tetraplegia, Spastic paraparesis OMIM:618721
Adrenomyeloneuropathy
Female sexual dysfunction, Back pain, Axonal degeneration, Atrophy/Degeneration involving the cor... ORPHA:139399
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Limb hypertonia, Myoclonus, Chorea, Choreoathetosis, Involuntary movements, Parox... OMIM:606703
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Myoclonus, Eyelid myoclonus OMIM:618357
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Myoclonus, Progressive distal muscular atrophy, Facial palsy, Fasciculations, Spinal muscular atr... OMIM:159950
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements, Stereotypical hand wringing ORPHA:397933
Pelizaeus-Merzbacher Disease, Classic Form
Ataxia, Abnormal pyramidal sign, Head tremor, Dystonic gait, Athetosis, Titubation, Difficulty wa... ORPHA:280219
Progressive Myoclonic Epilepsy With Dystonia
Hemiplegia, Myoclonus, Abnormal pyramidal sign, Hemiparesis, Dystonia, Abnormality of extrapyrami... ORPHA:352596
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Parkinsonism, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:619738
Mitochondrial Membrane Protein-Associated Neurodegeneration
Bradykinesia, Hand tremor, Spastic paraparesis, Babinski sign, Parkinsonism, Rigidity, Frequent f... ORPHA:289560
Sabinas Brittle Hair Syndrome
Nail dysplasia, Sparse hair, Brittle hair, Dry hair, Nail dystrophy OMIM:211390
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Ataxia, Spastic paraparesis, Dysmetria, Myoclonus, Dysdiadochokinesis, Spastic dysarthria, Spasti... ORPHA:313772
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Ankle clonus, Babinski sign, Increased variability in mu... OMIM:613954
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Dystonia, Abnormality of extra... OMIM:300894
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Sparse hair OMIM:272980
Spastic Paraplegia 39, Autosomal Recessive
Gait disturbance, Ataxia, Babinski sign, Progressive spastic paraplegia OMIM:612020
Nystagmus, Hereditary Vertical
Ataxia, Abnormal vestibulo-ocular reflex OMIM:164150
Epilepsy, Early-Onset, Vitamin B6-Dependent
Hypertonia, Myoclonus, Clonus OMIM:617290
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Bradykinesia, Myoclonus, Babinski sign, Rigidity, Parkinsonism, Oculogyric crisis, Gait a... ORPHA:101150
Joubert Syndrome 25
Oculomotor apraxia, Ataxia, Generalized hypotonia OMIM:616781
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Clumsiness, Dysmetria, Dysdiadochokinesis, Myoclonus OMIM:256731
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse hair, Sparse eyebrow, Sparse eyelashes, Ridged nail, Fine hair, Slow-growing hair OMIM:129490
Hypotrichosis 13
Abnormal sweat gland morphology, Woolly hair, Sparse hair, Sparse eyelashes OMIM:615896
Childhood-Onset Spasticity With Hyperglycinemia
Hypertonia, Ataxia, Spastic diplegia, Myoclonus, Babinski sign, Spastic dysarthria, Progressive s... ORPHA:401866
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Myoclonus OMIM:204500
Spinocerebellar Ataxia 13
Progressive cerebellar ataxia, Limb ataxia, Abnormal pyramidal sign, Generalized hypotonia, Limb ... OMIM:605259
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Congenital Muscular Dystrophy With Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Multiple joint contractures, Loss of ambulation, Cerebra... ORPHA:370968
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Broad-based gait, Kyphosis, Amyoplasia, Scapular muscle atrophy, Peroneal muscle wea... OMIM:181405
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Lopes-Maciel-Rodan Syndrome
Kyphosis, Cerebral atrophy, Scoliosis, Tremor, Cerebellar atrophy, Unsteady gait, Caudate atrophy... OMIM:617435
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Foot dorsiflexor weakness, Fasciculations, Skeletal muscle atrophy, Distal sensory impairment OMIM:137200
Schopf-Schulz-Passarge Syndrome
Sparse hair, Onycholysis, Ridged nail, Narrow nail, Poroma, Apocrine hidrocystoma, Thin nail, Sma... OMIM:224750
Choroidal Atrophy-Alopecia Syndrome
Sparse hair, Supernumerary nipple, Sparse or absent eyelashes, Abnormal fingernail morphology, Fi... ORPHA:1433
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Thick eyebrow, Sparse hair, Widow's peak OMIM:606242
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spinocerebellar Ataxia Type 29
Ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Generalized hypotonia, Gait ataxia, Ocul... ORPHA:208513
Ataxia-Oculomotor Apraxia Type 4
Ataxia, Kyphoscoliosis, Muscular dystrophy, Progressive distal muscular atrophy, Somatic sensory ... ORPHA:459033
Spinocerebellar Ataxia Type 36
Ataxia, Limb ataxia, Dysmetria, Hand tremor, Intention tremor, Babinski sign, Head tremor, Trunca... ORPHA:276198
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Leukonychia, Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse axillary ha... OMIM:613102