Gene Summary

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

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased locomotor activity Clcn1em1(IMPC)Mbp HOM   Early adult 7.54×10-21
decreased exploration in new environment Clcn1em1(IMPC)Mbp HOM Early adult 1.60×10-05
abnormal behavior Clcn1em1(IMPC)Mbp HOM Early adult 1.15×10-10
decreased circulating glucose level Clcn1em1(IMPC)Mbp HOM Early adult 1.62×10-05
decreased mean platelet volume Clcn1em1(IMPC)Mbp HOM Early adult 1.72×10-06
abnormal eye morphology Clcn1em1(IMPC)Mbp HOM Early adult 0.00
abnormal gait Clcn1em1(IMPC)Mbp HOM Early adult 2.72×10-20
increased circulating bilirubin level Clcn1em1(IMPC)Mbp HOM Early adult 2.38×10-16
decreased vertical activity Clcn1em1(IMPC)Mbp HOM   Early adult 2.65×10-05
decreased grip strength Clcn1em1(IMPC)Mbp HOM Early adult 1.28×10-14
microphthalmia Clcn1em1(IMPC)Mbp HOM Early adult 0.00
abnormal auditory brainstem response Clcn1em1(IMPC)Mbp HOM   Early adult 3.00×10-06
decreased lymphocyte cell number Clcn1em1(IMPC)Mbp HOM   Early adult 9.19×10-05
tremors Clcn1em1(IMPC)Mbp HOM Early adult 3.09×10-21
abnormal cholesterol homeostasis Clcn1em1(IMPC)Mbp HOM Early adult 4.19×10-18
decreased startle reflex Clcn1em1(IMPC)Mbp HOM Early adult 5.07×10-05
increased eosinophil cell number Clcn1em1(IMPC)Mbp HOM   Early adult 2.56×10-05
decreased thigmotaxis Clcn1em1(IMPC)Mbp HOM Early adult 5.11×10-11
decreased circulating HDL cholesterol level Clcn1em1(IMPC)Mbp HOM Early adult 4.43×10-05
increased circulating serum albumin level Clcn1em1(IMPC)Mbp HOM Early adult 4.56×10-05
decreased prepulse inhibition Clcn1em1(IMPC)Mbp HOM Early adult 2.79×10-10
male infertility Clcn1em1(IMPC)Mbp HOM Early adult 0.00
decreased body length Clcn1em1(IMPC)Mbp HOM Early adult 0.00
decreased heart weight Clcn1em1(IMPC)Mbp HOM   Early adult 4.75×10-05
female infertility Clcn1em1(IMPC)Mbp HOM Early adult 0.00
increased circulating aspartate transaminase level Clcn1em1(IMPC)Mbp HOM Early adult 1.76×10-14
decreased monocyte cell number Clcn1em1(IMPC)Mbp HOM Early adult 1.02×10-08

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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
Handgrip myotonia, Myotonia with warm-up phenomenon, Myotonia, Percussion myotonia, EMG: myotonic... OMIM:160800
Thomsen And Becker Disease
Myotonia ORPHA:614
Myotonia Congenita, Autosomal Recessive
Percussion myotonia, Myotonia with warm-up phenomenon, Myotonia, EMG: myotonic runs 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
Generalized hypotonia, Inability to walk, Hypotonia, Abasia, Ataxia OMIM:209100
Spastic Paraplegia 34, X-Linked
Spastic paraplegia, Impaired vibratory sensation, Paraplegia, Babinski sign, Clonus, Spastic gait OMIM:300750
Spastic Paraplegia 72B, Autosomal Recessive
Spasticity, Difficulty walking, Gait ataxia, Babinski sign, Spastic gait OMIM:620606
Spastic Paraplegia 61, Autosomal Recessive
Inability to walk, Spastic paraplegia, Spasticity, Scissor gait OMIM:615685
Spastic Paraplegia 24, Autosomal Recessive
Spastic paraplegia, Spasticity, Clonus, Tip-toe gait OMIM:607584
Neuhauser-Eichner-Opitz Syndrome
Spasticity, Hypotonia, Rigidity, Hypertonia, Ataxia ORPHA:2672
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Spastic Paraplegia 72A, Autosomal Dominant
Spastic paraplegia, Spasticity, Tip-toe gait, Impaired vibration sensation in the lower limbs, Ho... OMIM:615625
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance, Hypertonia ORPHA:256
Dystonia 15, Myoclonic
Dystonia, Myoclonus, Writer's cramp OMIM:607488
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Hypotrichosis 1
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... OMIM:605389
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Paramyotonia Congenita Of Von Eulenburg
Handgrip myotonia, Myotonia, Periodic hypokalemic paresis, Percussion myotonia, Myotonia of the f... ORPHA:684
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Myotonia Congenita, Autosomal Dominant
Handgrip myotonia, Myotonia with warm-up phenomenon, Myotonia, Percussion myotonia, EMG: myotonic... OMIM:160800
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ... OMIM:616053
Dystonia 6, Torsion
Laryngeal dystonia, Limb dystonia, Myoclonus, Lingual dystonia, Torticollis, Writer's cramp, Tors... OMIM:602629
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Spastic Paraplegia 62, Autosomal Recessive
Spasticity, Tip-toe gait, Fasciculations, Difficulty walking, Ankle clonus, Hoffmann sign, Babins... OMIM:615681
Autosomal Recessive Spastic Paraplegia Type 43
Impaired vibratory sensation, Spasticity, Spastic paraparesis, Generalized hypotonia, Difficulty ... ORPHA:320370
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Limb myoclonus, Myoclonus, Torticollis, Writer's cramp, Dystonia ORPHA:36899
Myoclonus, Familial, 2
Dystonia, Limb myoclonus OMIM:618364
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Handgrip myotonia, Impaired vibration sensation in the lower limbs, Motor axonal neuropathy, Hand... ORPHA:324442
Autosomal Recessive Spastic Paraplegia Type 24
Spastic paraplegia, Spasticity, Tip-toe gait, Scissor gait, Clonus ORPHA:101004
Spastic Ataxia With Congenital Miosis
Spastic ataxia, Hemiplegia/hemiparesis, Ataxia ORPHA:1182
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Hypotonia, Appendicular hypotonia, Ataxia OMIM:619333
X-Linked Complicated Spastic Paraplegia Type 1
Upper motor neuron dysfunction, Spastic paraplegia, Ataxia ORPHA:306617
Charcot-Marie-Tooth Disease Type 2B1
Proximal muscle weakness in lower limbs, Distal sensory impairment, Motor axonal neuropathy, Hand... ORPHA:98856
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Unsteady gait,... ORPHA:423275
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Rippling Muscle Disease 1
Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:600332
Alpers-Huttenlocher Syndrome
Spasticity, Spastic paraparesis, Hypotonia, Myoclonus, Paraparesis, Ataxia, Progressive spasticit... ORPHA:726
Spastic Paraparesis-Deafness Syndrome
Spastic paraparesis, Impaired pain sensation, Hemiplegia/hemiparesis, Gait disturbance, Ataxia ORPHA:2815
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor OMIM:611092
Hypotrichosis 10
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair OMIM:614238
Hypotrichosis 11
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... OMIM:615059
Cerebellar Ataxia, Cayman Type
Broad-based gait, Generalized hypotonia, Gait ataxia, Truncal ataxia, Nonprogressive cerebellar a... ORPHA:94122
Developmental Delay With Dysmorphic Facies And Dental Anomalies
Hypotonia, Spasticity, Ataxia OMIM:619228
Isolated Cerebellar Agenesis
Hypotonia, Hypertonia, Ataxia ORPHA:1398
Autosomal Spastic Paraplegia Type 30
Somatic sensory dysfunction, Progressive spastic paraplegia, Distal sensory impairment, Babinski ... ORPHA:101010
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Thomsen And Becker Disease
Myotonia ORPHA:614
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Upper limb muscle weakness, Lower limb muscle weakness, Foot dorsiflexor weakness, Distal sensory... OMIM:616155
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Distal amyotrophy, Tip-toe gait, Axonal degeneration/regeneration, Distal sensory impairment, Axo... OMIM:614436
Hydrocephaly-Cerebellar Agenesis Syndrome
Hypotonia, Ataxia ORPHA:1397
Geniospasm 1
Chin myoclonus OMIM:190100
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Myotonia OMIM:170500
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Dystonia, Paroxysma... ORPHA:98810
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Intention tremor ORPHA:308
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Gait disturbance, Choreoathetosis, Ataxia ORPHA:67047
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis, Myotonia OMIM:613345
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Cerebral Creatine Deficiency Syndrome 2
Hypotonia, Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, I... OMIM:612736
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Distal amyotrophy, Basal lamina onion bulb formation, Distal sensory ... OMIM:214400
Myotonia Congenita, Autosomal Recessive
Percussion myotonia, Myotonia with warm-up phenomenon, Myotonia, EMG: myotonic runs OMIM:255700
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal... OMIM:618138
Brody Disease
Myotonia, Somatic sensory dysfunction, Fasciculations, Percussion myotonia, Flexion contracture, ... OMIM:601003
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Upper limb muscle weakness, Myotonia, Lower limb muscle weakness, Tremor, Loss of... ORPHA:209335
Myelopathy, Htlv-1-Associated
Spastic paraparesis, Abnormal pyramidal sign OMIM:159580
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Ataxia OMIM:619061
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Percussio... ORPHA:34516
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:98855
Zebra Body Myopathy
Handgrip myotonia, Rimmed vacuoles, Limb-girdle muscular dystrophy, Nemaline bodies, Myofibrillar... ORPHA:97240
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis OMIM:608634
Spastic Ataxia 4, Autosomal Recessive
Spastic paraparesis, Upper limb hypertonia, Limb ataxia, Gait ataxia, Babinski sign, Spastic atax... OMIM:613672
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia ORPHA:2589
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Tip-toe gait, Hand tremor, Hand muscle weakness, Difficulty walking, Distal l... OMIM:302800
Mitochondrial Dna Depletion Syndrome 18
Distal amyotrophy, Falls, Failure to thrive, Foot dorsiflexor weakness, Hand muscle atrophy, Axon... OMIM:618811
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista... ORPHA:101108
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Distal amyotrophy, Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairmen... OMIM:208920
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Distal amyotrophy, Distal sensory impairment, Axonal degeneration, Decreased number of peripheral... OMIM:606482
Richieri Costa-Da Silva Syndrome
Handgrip myotonia, Falls, Vertebral wedging, Decreased anterioposterior diameter of lumbar verteb... ORPHA:3101
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... OMIM:614561
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Broad-based gait, Increased endomysial connective... ORPHA:353
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Autosomal Recessive Spastic Paraplegia Type 27
Spastic paraplegia, Dysdiadochokinesis, Impaired vibration sensation at ankles, Babinski sign ORPHA:101007
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Short neck, Sp... ORPHA:98863
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Epilepsy, Familial Adult Myoclonic, 7
Myoclonic tremor OMIM:618075
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Difficulty walking, Foot dorsiflexor weakness, Distal sensory impairment, Peripher... OMIM:617087
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail OMIM:614928
Spinocerebellar Ataxia, X-Linked 5
Neonatal hypotonia, Action tremor, Ataxia OMIM:300703
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia OMIM:254950
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Maple Syrup Urine Disease
Hypotonia, Hemiplegia/hemiparesis, Ataxia ORPHA:511
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:98853
Episodic Ataxia Type 1
Cerebellar atrophy, Tip-toe gait, Myotonia, Kyphoscoliosis, Calf muscle hypertrophy, Scoliosis, C... ORPHA:37612
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Tremor, Gait disturbance, Paraparesis, Ataxia ORPHA:99014
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis, Myotonia OMIM:170400
Paramyotonia Congenita
Handgrip myotonia, Percussion myotonia, Paradoxical myotonia OMIM:168300
Dentatorubral-Pallidoluysian Atrophy
Chorea, Myoclonus, Parkinsonism, Ataxia, Dystonia, Choreoathetosis OMIM:125370
Charcot-Marie-Tooth Disease, Type 4C
Distal amyotrophy, Basal lamina onion bulb formation, Upper limb muscle weakness, Difficulty walk... OMIM:601596
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Dystonia 23
Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Torticollis, Writer's cramp OMIM:614860
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,... ORPHA:2722
Spastic Paraplegia 48, Autosomal Recessive
Spastic paraplegia, Broad-based gait, Spastic paraparesis, Tip-toe gait, Dysmetria, Parkinsonism,... OMIM:613647
Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Hypertonia OMIM:614023
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... OMIM:310440
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Fasciculations, Limb ataxia, Gait ataxia, Myoclonus, Abnormal pyramidal sign, Upper motor neuron ... ORPHA:95434
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Distal sensory impairment, Rigidity, Tremor,... OMIM:606693
Spinocerebellar Ataxia 41
Unsteady gait, Gait ataxia, Ataxia OMIM:616410
Spastic Paraplegia 79B, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Myotonia, Tetraparesis, Fasciculations, Postura... OMIM:615491
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Steppage gait, Distal sensory impairment OMIM:302802
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Elevated circulating creatine kinase concentration, Babi... OMIM:160120
Infantile Spasms Syndrome
Myoclonus ORPHA:3451
Mast Syndrome
Spastic paraplegia, Spastic paraparesis, Incoordination, Babinski sign, Apraxia, Gait disturbance... OMIM:248900
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Cerebral atrophy, Chorea, Peripheral demyelination, Peripheral hypomyelination, Kyphoscoliosis, A... OMIM:604168
Episodic Ataxia, Type 8
Ataxia, Slurred speech, Intention tremor, Episodic ataxia OMIM:616055
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Generalized hypotonia, Hypotonia, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intenti... OMIM:608029
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Spastic paraparesis, Upper limb hypertonia, Myoclonus, Babinski si... ORPHA:254343
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Neurodegeneration With Brain Iron Accumulation 8
Hypotonia, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus OMIM:217200
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Spasticity, Broad-based gait, Generalized hypotonia, Difficulty walking, Dysmetria, Clumsiness, B... ORPHA:284332
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Distal sensory impairment, Axonal degeneration, Decreased number of peripheral myeli... OMIM:604484
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Episodic Kinesigenic Dyskinesia 2
Dystonia, Involuntary movements, Paroxysmal dyskinesia, Chorea OMIM:611031
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development
Firm muscles, Myotonia, Vertebral wedging, Kyphoscoliosis, Skeletal muscle hypertrophy OMIM:255710
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi... OMIM:615157
Muscular Dystrophy, Barnes Type
Myotonia OMIM:158800
Malaria
Gait imbalance, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Thromb... ORPHA:673
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair ORPHA:505
Spinocerebellar Ataxia 35
Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss of ambulation, Babins... OMIM:613908
Spinocerebellar Ataxia, Autosomal Recessive 22
Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal ataxia, Unsteady gait,... OMIM:616948
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Lower limb muscle weakness, Inability to walk, Gait disturbance, Joint c... OMIM:611225
Myotonia Permanens
Myotonia, Generalized muscle hypertrophy, Gait disturbance, Hyperlordosis, Skeletal muscle hypert... ORPHA:99735
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus OMIM:604827
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Proximal muscle weakness in lower limbs, Ankle flexion contracture, Proximal muscle weakness in u... OMIM:616668
Rippling Muscle Disease 2
Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:606072
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Impaired distal proprioception ORPHA:231445
Spinocerebellar Ataxia, Autosomal Recessive 25
Truncal ataxia, Babinski sign, Dysmetria, Ataxia OMIM:617584
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse pubic hair, Abnormal hair morphology, Onychogryposis of toenails, Nail dystrophy, Sparse e... ORPHA:1808
Horner Syndrome, Congenital
Paralysis OMIM:143000
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Inability to walk, Chorea, Cogwheel rigidity, Action tremor, Ga... OMIM:607483
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Succinic Semialdehyde Dehydrogenase Deficiency
Hypotonia, Ataxia ORPHA:22
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, T... ORPHA:276193
Myotonia, Potassium-Aggravated
Handgrip myotonia, Myotonia, Percussion myotonia OMIM:608390
Episodic Ataxia, Type 2
Myotonia, Episodic ataxia, Paresthesia, Dystonia, Progressive cerebellar ataxia OMIM:108500
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Hand tremor, Myoclonus, Limb dystonia, Torticollis, Or... ORPHA:420485
Autosomal Dominant Spastic Paraplegia Type 73
Progressive spastic paraplegia, Progressive spastic paraparesis, Difficulty walking, Impaired vib... ORPHA:444099
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Fasciculations, Spinal muscular atrophy, Tremor, Distal sensory impairme... OMIM:615048
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality of the nail, Sparse scalp hair OMIM:601553
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Gait disturbance, Dysdiadochokinesis, Rigidity ORPHA:228169
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Distal upper limb amyotrophy, Distal lower limb amyotrophy, Tremor, Gait... ORPHA:101075
Spinocerebellar Ataxia Type 37
Falls, Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Gait disturbance, Truncal ataxia, Dy... ORPHA:363710
Epilepsy, Progressive Myoclonic, 11
Ataxia, Myoclonus, Intention tremor, Rigidity OMIM:618876
Dystonia 26, Myoclonic
Blepharospasm, Laryngeal dystonia, Myoclonus, Torticollis, Dystonia OMIM:616398
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Foot dorsiflexor weakness, Axonal dege... OMIM:620011
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Benign Adult Familial Myoclonic Epilepsy
Myoclonus, Hand tremor ORPHA:86814
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Distal amyotrophy, Upper limb muscle weakness, Axonal degeneration/regeneration, Distal sensory i... OMIM:605588
Acetazolamide-Responsive Myotonia
Gait disturbance, Myotonia, Skeletal muscle hypertrophy ORPHA:99736
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in lower limbs, Peripheral demyelination, Distal sensory impairment, Imp... ORPHA:101097
Epilepsy, Progressive Myoclonic 7
Myoclonus, Tremor, Ataxia OMIM:616187
Myotonia Fluctuans
Handgrip myotonia, Myotonia with warm-up phenomenon, Myotonia of the lower limb, Myotonia of the ... ORPHA:99734
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Developmental And Epileptic Encephalopathy 37
Spasticity, Chorea, Cogwheel rigidity, Myoclonus, Rigidity, Hyperkinetic movements, Gait disturba... OMIM:616981
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Tongue fasciculations, Proximal muscle weakness in lower limbs, Proximal muscle ... ORPHA:276435
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Generalized hypotonia, Ataxia ORPHA:404493
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... ORPHA:3361
Spastic Paraplegia 70, Autosomal Recessive
Spasticity, Skeletal muscle atrophy, Somatic sensory dysfunction, Fasciculations, Ankle clonus, A... OMIM:620323
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Broad-based gait, Inability to walk, Hypotonia, Myoclonus, Dystonia, Clumsiness, Para... OMIM:617854
Developmental And Epileptic Encephalopathy 11
Hyperkinetic movements, Spastic tetraplegia OMIM:613721
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig... OMIM:607317
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Ataxia OMIM:208700
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Generalized hypotonia, Spastic ataxia, Progressive spastic paraparesis, Spastic tetraparesis ORPHA:496756
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Decreased muscle mass, Inability to walk, Knee flexion contracture, Axonal dege... OMIM:615490
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Falls, Limb ataxia, Myoclonus, Gait disturbance, Truncal ataxia, Choreoathetosis OMIM:616230
Autosomal Recessive Spastic Paraplegia Type 25
Spastic paraplegia, Paraparesis ORPHA:101005
Spinocerebellar Ataxia 38
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia OMIM:615957
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Impaired vibration sensation in the lower limbs, Positive Romberg sign, Gait ... ORPHA:88628
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
X-Linked Non Progressive Cerebellar Ataxia
Generalized neonatal hypotonia, Action tremor, Clumsiness, Truncal ataxia, Unsteady gait, Spastic... ORPHA:314978
Ataxia, Sensory, 1, Autosomal Dominant
Sensory ataxia, Positive Romberg sign, Gait ataxia, Babinski sign, Gait disturbance, Gait instabi... OMIM:608984
Spastic Paraplegia 75, Autosomal Recessive
Spasticity, Spastic paraparesis, Neonatal hypotonia, Hypotonia, Dysmetria, Loss of ambulation, Ba... OMIM:616680
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Alternating Hemiplegia Of Childhood 2
Hemiplegia, Tetraplegia, Ataxia, Dystonia, Episodic quadriplegia, Choreoathetosis OMIM:614820
Spinocerebellar Ataxia, X-Linked 1
Neonatal hypotonia, Hypotonia, Action tremor, Abnormality of extrapyramidal motor function, Ataxi... OMIM:302500
Amyotrophic Lateral Sclerosis 4, Juvenile
Distal amyotrophy, Amyotrophic lateral sclerosis, Difficulty walking, Axonal degeneration, Abnorm... OMIM:602433
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia OMIM:183050
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp OMIM:617294
Frontotemporal Dementia With Motor Neuron Disease
Tetraparesis, Fasciculations, Abnormality of extrapyramidal motor function, Babinski sign, Parkin... ORPHA:275872
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Glut1 Deficiency Syndrome 1
Spasticity, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreoathetosis OMIM:606777
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Myoclonus, Hand tremor, Writer's cramp OMIM:608105
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Myotonia ORPHA:371
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Dysmetria, Ankle clonus, Babinski sign, Lower limb spasticity, Ataxia, Spasti... OMIM:610357
Facial Onset Sensory And Motor Neuronopathy
Fasciculations ORPHA:85162
Hypotrichosis 7
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... OMIM:604379
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto... OMIM:226990
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... OMIM:611302
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Impaired pain sensation, Obesity, Foot dorsiflexor weakness, Distal sensory impairment, Loss of a... OMIM:618124
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Impaired pain sensation, Tremor, Gait disturbance, Ataxia, Scoliosis, Ky... ORPHA:101078
Dystonia 31
Arm dystonia, Abnormal posturing, Generalized dystonia, Leg dystonia, Craniofacial dystonia, Park... OMIM:619565
Myofibrillar Myopathy 10
Ankle flexion contracture, Percussion myotonia, Elbow flexion contracture, EMG: myopathic abnorma... OMIM:619040
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Myoclonus, Tremor OMIM:615400
Neurodegeneration With Brain Iron Accumulation 6
Spastic paraparesis, Tip-toe gait, Rigidity, Dystonia, Gait disturbance, Oromandibular dystonia, ... OMIM:615643
Ceroid Lipofuscinosis, Neuronal, 8
Loss of ambulation, Myoclonus, Ataxia OMIM:600143
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal... OMIM:620402
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Distal amyotrophy, Tremor, Kyphoscoliosis, Peripheral axonal neuropathy, Ataxia OMIM:619099
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Limb dystonia, Emotional lability, Parkinsonism, Abnormal pyramidal sign, Cognitive i... ORPHA:216873
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Progressive spastic paraplegia, Progressive spastic paraparesis, Ankle clonus, Babinski sign, Tet... ORPHA:506353
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia OMIM:276880
Spinocerebellar Ataxia, Autosomal Recessive 17
Broad-based gait, Hypotonia, Limb ataxia, Gait ataxia, Appendicular hypotonia, Dysmetria, Dystoni... OMIM:616127
Spinocerebellar Ataxia 11
Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebellar ataxia OMIM:604432
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal amyotrop... OMIM:607706
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Memory impairment, Hearing impairment, Tremor, Unconjugated hyperbil... ORPHA:79234
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Spastic paraplegia, Tongue fasciculations, Limb fasciculations, Babinski sign, Gait disturbance, ... ORPHA:329475
Developmental And Epileptic Encephalopathy 69
Hyperkinetic movements, Dystonia, Myoclonus, Spastic tetraplegia OMIM:618285
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Cogwheel rigidity, Limb dystonia, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Striatonigral Degeneration, Infantile, Mitochondrial
Poor motor coordination, Incoordination, Chorea, Myoclonus, Babinski sign, Clonus, Lingual dyston... OMIM:500003
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Gait ataxia, Dysmetria, Dystonia, Clumsiness, Babinski sign, Oculomotor apraxia, Infantile muscul... ORPHA:453521
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Cerebral atrophy, Inability to walk, Lumbar hyperlordosis, Obesity, Ataxia, Dys... OMIM:616756
Combined Saposin Deficiency
Hyperkinetic movements, Babinski sign, Myoclonus, Fasciculations OMIM:611721
Hereditary Geniospasm
Chin myoclonus ORPHA:53372
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Inability to walk, Abnormality of extrapyramidal motor function, Ataxia, Dystonia, Athetosis, Axi... OMIM:615159
Roussy-Lévy Syndrome
Impaired vibratory sensation, Distal amyotrophy, Skeletal muscle atrophy, Somatic sensory dysfunc... ORPHA:3115
Spinocerebellar Ataxia, Autosomal Recessive 10
Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal ataxia, Intention tremor OMIM:613728
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Dystonia, Paroxysmal d... ORPHA:53583
Optic Atrophy 2
Babinski sign, Optic atrophy, Dysdiadochokinesis, Tremor OMIM:311050
Vitamin B12-Unresponsive Methylmalonic Acidemia
Tetraparesis, Hypotonia, Paraparesis, Ataxia, Choreoathetosis ORPHA:27
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Myotonia, Cerebral palsy, Fasciculations, Periodic hyperkalemic paralysi... ORPHA:682
Spastic Paraplegia 76, Autosomal Recessive
Spastic paraplegia, Difficulty walking, Gait ataxia, Dysmetria, Distal sensory impairment, Babins... OMIM:616907
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Tetraparesis, Apraxia, Parkinsonism, Paraparesis, Extrapyramidal dyskinesia OMIM:105550
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Myoclonus, Dysmetria, Ataxia OMIM:619191
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... ORPHA:79262
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus OMIM:102300
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Difficulty walking, Elevated circulating creatine kinase concentration, Clumsiness, Eosinophilia,... OMIM:253600
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... ORPHA:454887
Monilethrix
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair OMIM:158000
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Distal amyotrophy, Failure to thrive, Denervation of the diaphragm, Camptodactyly of finger, Limb... OMIM:604320
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Chorea, Paresthesia, Lower limb spasticity, Ataxia, Torsion dystonia, Dyst... ORPHA:98811
Peroxisome Biogenesis Disorder 8B
Spasticity, Spastic paraparesis, Tip-toe gait, Neonatal hypotonia, Gait ataxia, Dysmetria, Rigidi... OMIM:614877
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Proximal muscle weakness in lower limbs, Broad-based gait, Tip-toe gait, Lower limb muscle weakne... OMIM:615290
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal amyotrophy, Arthrogryposis multiplex congenita, Elbow flexion contracture, Nonprogressive ... OMIM:600175
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia OMIM:615924
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Hypertrophic nerve changes, Distal amyotrophy, Gait ataxia, Action tr... OMIM:180800
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Ankle clonus, Dystonia, Babi... OMIM:607565
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Somatic sensory dysfunction, Difficulty walking, Inability to walk, Tremor, ... ORPHA:101077
Primary Angiitis Of The Central Nervous System
Tetraparesis, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia ORPHA:140989
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... ORPHA:363654
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Choreoathetos... ORPHA:71277
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Dysdiadochokinesis, Gait ataxia, Dysmetria, Unsteady gait, Intention tremor OMIM:615386
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Generalized hypotonia, Inability to walk, Chorea, Gait ataxia, Dysmetria, Ataxia, Axial hypotonia OMIM:618501
Autosomal Spastic Paraplegia Type 58
Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubat... ORPHA:397946
Hair Defect With Photosensitivity And Impaired Intellectual Development
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:234030
Schwartz-Jampel Syndrome, Type 1
Platyspondyly, Flexion contracture of toe, Joint contracture of the hand, Cervical kyphosis, Skel... OMIM:255800
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Skeletal muscle atrophy, Somatic sensory dysfunction, Peripheral demyelination, Limb muscle weakn... OMIM:620378
Developmental And Epileptic Encephalopathy 92
Spasticity, Difficulty walking, Inability to walk, Myoclonus, Ataxia OMIM:617829
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis ORPHA:640
Spastic Paraplegia 10, Autosomal Dominant
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Distal sensory impairment, A... OMIM:604187
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl... ORPHA:314632
Dystonia 37, Early-Onset, With Striatal Lesions
Generalized dystonia, Chorea, Hypotonia, Leg dystonia, Loss of ambulation, Oculomotor apraxia, At... OMIM:620427
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infiltration, Anemia OMIM:131400
Dystonia 28, Childhood-Onset
Spasticity, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dystonia, Torticolli... OMIM:617284
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia ORPHA:324588
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsi... ORPHA:43
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Hereditary Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Generalized hypotonia, Incoordination, Hypotonia, Limb ataxia, Gait ataxia, Dysmetria... OMIM:213200
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Fasciculations OMIM:608030
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Difficulty walking, Facial diplegia, Limb muscle weakne... OMIM:609285
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Tremor OMIM:619651
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Lower limb muscle weakness, Fasciculations, Spinal muscular atrophy, Triceps weakness, Weakness o... OMIM:615575
Adrenoleukodystrophy
Spastic paraplegia, Incoordination, Limb ataxia, Paraparesis, Truncal ataxia, Impaired vibration ... OMIM:300100
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Hypotonia, Positive Romberg sign, Dysmetria, Loss of ambulation, Babinski sign, Ataxi... OMIM:618088
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Myoclonus, Tremor OMIM:613608
Monilethrix
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma... ORPHA:573
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Cerebellar atrophy, Cerebral atrophy, Lower limb muscle weakness, H... OMIM:614409
Charcot-Marie-Tooth Disease Type 1A
Spontaneous pain sensation, Skeletal muscle atrophy, Gait imbalance, Paresthesia, Distal sensory ... ORPHA:101081
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop... OMIM:212050
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Impaired pain sensation, Lower limb muscle weakness, Impaired temperature sensation, Distal lower... ORPHA:99940
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair ORPHA:1008
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Myoclonus, Dysmetria, Spastic ataxia, Oculomotor apraxia, Ataxia... OMIM:614487
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Vocal cord paralysis OMIM:607641
Glut1 Deficiency Syndrome 2
Splenomegaly, Reticulocytosis, Tremor, Reduced haptoglobin level, Irritability, EEG abnormality, ... OMIM:612126
Idiopathic Camptocormia
Myotonia, Cerebral atrophy, Amyotrophic lateral sclerosis, Proximal spinal muscular atrophy, Abno... ORPHA:1320
Spinocerebellar Ataxia Type 14
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cerebellar ataxia ORPHA:98763
Salla Disease
Spasticity, Generalized hypotonia, Inability to walk, Hypotonia, Ataxia, Athetosis OMIM:604369
Late-Infantile/Juvenile Krabbe Disease
Mental deterioration, Spastic paraparesis, Difficulty walking, Emotional lability, Loss of ambula... ORPHA:206443
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Babinski sign, Cognitive impairment, Ataxia OMIM:611105
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Muscular... OMIM:619566
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Inability to... ORPHA:391411
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Polycythemia, Increased total iron binding capacity, Tremor, Rigidity, Dysto... OMIM:613280
Spinocerebellar Ataxia Type 12
Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abn... ORPHA:98762
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Paralysis, Parkinsonism OMIM:105500
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spinal Muscular Atrophy, Type Iii
Tongue fasciculations, Shoulder girdle muscle atrophy, Distal amyotrophy, Hand tremor, Lower limb... OMIM:253400
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Decreased motor nerve conduction velocity, Steppage gait, Hypercholesterolemia, ... OMIM:607250
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte glutathione reductase... OMIM:618660
Ectodermal Dysplasia 9, Hair/Nail Type
Abnormal sweat gland morphology, Abnormal sebaceous gland morphology, Atrichia, Absent hair, Nail... OMIM:614931
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia, Spasticity, Unsteady gait OMIM:618092
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, Muscular dystrophy, Macroglossia, Cerebellar atrophy, Tip-toe gai... OMIM:606612
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, Tiger tail banding, Nail dystrophy, Ataxia, Sparse hair OMIM:619692
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Fasciculations, Distal lower limb amyotrophy, Claw hand deformity, Foot dorsiflexor weakness, Dis... OMIM:606595
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Mohr-Tranebjaerg Syndrome
Mental deterioration, Prelingual sensorineural hearing impairment, Sensorineural hearing impairme... ORPHA:52368
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... OMIM:606703
Spinocerebellar Ataxia, Autosomal Recessive 18
Incoordination, Hypotonia, Gait ataxia, Dysmetria, Babinski sign, Oculomotor apraxia, Ataxia, Tru... OMIM:616204
Basal Ganglia Calcification, Idiopathic, 1
Mental deterioration, Depression, Memory impairment, Chorea, Limb dysmetria, Tremor, Rigidity, Dy... OMIM:213600
Valinemia
Hyperkinetic movements OMIM:277100
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Spermatogenic Failure 12
Infertility, Azoospermia OMIM:615413
Palmoplantar Keratoderma And Woolly Hair
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly hair, Sparse scalp hair OMIM:616099
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Distal amyotrophy, Sensory axonal neuropathy, Inability to walk, Motor axonal neur... OMIM:609541
Charcot-Marie-Tooth Disease, Type 4K
Skeletal muscle atrophy, Difficulty walking, Peripheral demyelination, Kyphoscoliosis, Ataxia, Ax... OMIM:616684
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Difficulty walking, Postural tremor, Limb ataxia,... ORPHA:284324
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Truncal ataxia, Progress... OMIM:607346
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Scoliosis, Myotonia, Kyphoscoliosis ORPHA:391307
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration... OMIM:619868
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Spastic paraplegia, Spasticity, Spastic paraparesis, Impaired vibratory sensation, Hypotonia, Dys... OMIM:238970
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Oculogyric crisis, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Abnormality... ORPHA:13
Spermatogenic Failure 17
Male infertility OMIM:617214
Hypotrichosis 9
Sparse eyebrow, Sparse body hair, Abnormal eyelash morphology, Abnormality of the nail, Sparse sc... OMIM:614237
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Parkinsonism, Myoclonus, Abnormality of extrapyramidal motor function OMIM:162350
Spinocerebellar Ataxia 44
Spasticity, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis OMIM:617691
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis OMIM:261630
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Tip-toe gait, Gait disturbance, Proximal amyotrophy, Hyperlordosis, Scoliosis, Kyphosis, Spinal r... OMIM:617404
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia, Ataxia OMIM:613909
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Myoclonus, Tremor, Loss of ambulation, Ataxia OMIM:614018
Hsd10 Disease
Spastic paraparesis, Myoclonus, Tremor, Rigidity, Gait disturbance, Infantile muscular hypotonia,... ORPHA:391417
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia, Spastic dysarthria ORPHA:94124
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait ORPHA:284271
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Limb fasciculations, Abnormal peripheral action potential amplitude, Abnormal ... ORPHA:90117
Myotonic Dystrophy 2
Handgrip myotonia, Sternocleidomastoid amyotrophy, Myotonia, Hypogonadism, Weakness of facial mus... OMIM:602668
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... ORPHA:158057
Aredyld
Generalized hypotrichosis OMIM:207780
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor weakness, D... OMIM:118220
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis OMIM:613710
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse body hair, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelas... ORPHA:1818
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Head tremor, Gait imbalance, Postural tremor, Elevated circulating creatine kina... ORPHA:64753
Autosomal Recessive Spastic Paraplegia Type 48
Broad-based gait, Progressive spastic paraplegia, Myoclonus, Parkinsonism, Lower limb spasticity,... ORPHA:306511
X-Linked Spinocerebellar Ataxia Type 3
Hypotonia, Ataxia ORPHA:85297
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia OMIM:619738
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Myoclonus ORPHA:139406
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cerebral cortical atrophy, Finger joint contracture, Chorea, Paresthesia, Intention tremor, Dysme... ORPHA:48431
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... OMIM:300718
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair, Ataxia ORPHA:1174
Phenylketonuria
Depression, Short attention span, Tremor, Lower limb spasticity, Hyperphenylalaninemia, EEG abnor... ORPHA:716
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Distal amyotrophy, Fasciculations, Incoordination, Impaired distal vibration sensation, Gait atax... OMIM:616688
Citrullinemia Type Ii
Hypoalbuminemia, Mania, Memory impairment, Decreased HDL cholesterol concentration, Delayed menar... ORPHA:247585
Creutzfeldt-Jakob Disease
Extrapyramidal muscular rigidity, Gait ataxia, Myoclonus, Hemiparesis OMIM:123400
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Hypogonadism, Neonatal hyperbilirubinemia, Ataxia ORPHA:3363
Epilepsy, Progressive Myoclonic, 9
Gait ataxia, Action myoclonus, Myoclonus, Frequent falls OMIM:616540
Developmental And Epileptic Encephalopathy 40
Spasticity, Intrauterine growth retardation, Myoclonus, Spastic tetraparesis, Choreoathetosis OMIM:617065
Ceroid Lipofuscinosis, Neuronal, 5
Myoclonus, Dysmetria, Loss of ambulation, Clumsiness, Limb tremor, Ataxia, Dysdiadochokinesis OMIM:256731
Spastic Tetraplegia And Axial Hypotonia, Progressive
Fasciculations, Ankle clonus, Babinski sign, Abnormal pyramidal sign, Lower limb spasticity, Hype... OMIM:618598
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Lymphocytosis, Elevated circulating C-reactive protein concentrat... OMIM:617718
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Skeletal muscle atrophy, Cerebral atrophy, Arthrogryposis... OMIM:611890
Myotonic Dystrophy 1
Myotonia, Cerebral atrophy, Hypogonadism, Facial diplegia, Testicular atrophy OMIM:160900
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Myeloproliferative ... OMIM:607685
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concen... OMIM:620010
Hypotrichosis 12
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... OMIM:615885
Spinocerebellar Ataxia 29
Truncal titubation, Broad-based gait, Hypotonia, Limb ataxia, Gait ataxia, Intention tremor, Dysm... OMIM:117360
Stxbp1-Related Encephalopathy
EEG with abnormally slow frequencies, Spasticity, Inability to walk, Tremor, Hypsarrhythmia, Hype... ORPHA:599373
Classic Galactosemia
Mental deterioration, Incoordination, Speech apraxia, Action tremor, Decreased fertility in femal... ORPHA:79239
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus, Tremor, Clumsiness, Eyelid myoc... ORPHA:2590
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations OMIM:271200
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Myoclonus, Splenomegaly, Thrombocytopenia, Anemia, Intention ... OMIM:610539
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Recurr... OMIM:301000
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Myoclonus OMIM:618357
Variegate Porphyria
Paralysis OMIM:176200
Developmental And Epileptic Encephalopathy 32
Myoclonus, Tremor, Ataxia OMIM:616366
Migraine, Familial Hemiplegic, 1
Hemiplegia, Confusion, Tremor, Hemiparesis, Ataxia, Agitation OMIM:141500
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Athetosis OMIM:300857
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Gait di... OMIM:617145
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:603553
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Failure to thrive, Upper limb hypertonia, Limb dystonia, Kyphosis, ... ORPHA:319199
Developmental And Epileptic Encephalopathy 82
Inability to walk, Neonatal hypotonia, Spastic paraparesis, Spastic tetraplegia OMIM:618721
Cinca Syndrome
Hearing impairment, Progressive sensorineural hearing impairment, Hepatosplenomegaly, Leukocytosi... OMIM:607115
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia, Menorrhagia OMIM:620484
Ectodermal Dysplasia 4, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... OMIM:602032
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Peripheral axonal neuropa... OMIM:610743
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Hypertrophic nerve changes, Distal amyotrophy, Peripheral demyelination, Limb muscle weakness, Fo... OMIM:118200
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Facial myokymia, Kyphosis, Failure to thrive, Ataxia OMIM:620007
Coasy Protein-Associated Neurodegeneration
Difficulty walking, Parkinsonism, Spastic paraparesis, Oromandibular dystonia ORPHA:397725
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Myoclonus, Babinski sign, Ataxia, Short stature, Spastic diplegia OMIM:619065
Spinocerebellar Ataxia 37
Tremor, Dysphagia, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Hypertrophic Neuropathy Of Dejerine-Sottas
Hypertrophic nerve changes, Broad-based gait, Distal amyotrophy, Peripheral demyelination, Myelin... OMIM:145900
Hypotrichosis 14
Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes OMIM:618275
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Skeleta... OMIM:300696
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Sensorine... OMIM:155100
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Abnormal circulating creatine kinase concentration, Sensorineural hearing impairment, Absent brai... OMIM:617519
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Mental deterioration, Depression, Confusion, Myoclonus, Gait ataxia, Tremor, Abnormality of extra... OMIM:615362
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Cerebellar atrophy, Failure to thriv... OMIM:248800
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Progressive Supranuclear Palsy-Corticobasal Syndrome