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Gene: Ky MGI:96709

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Gene Summary

Name:
kyphoscoliosis peptidase
Synonyms:
D9Mgc44e

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal behavior Kyem1(IMPC)J HOM Early adult 1.56×10-16
increased grip strength Kyem1(IMPC)J HOM Early adult 3.83×10-09
decreased exploration in new environment Kyem1(IMPC)J HOM Early adult 2.37×10-12
impaired righting response Kyem1(IMPC)J HOM Early adult 3.10×10-06
tremors Kyem1(IMPC)J HOM Early adult 2.93×10-10
abnormal gait Kyem1(IMPC)J HOM Early adult 1.74×10-17

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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.

Combined SHIRPA and Dysmorphology

Images

53 Images

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Electroretinography 3

Fundus file

21 Images

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Electrocardiogram (ECG)

Waveform Image

16 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Upper limb amyotrophy, Kyphoscoliosis, Knee flexion contracture, Proximal muscle weakness in uppe... ORPHA:496689
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... OMIM:617114

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Optic disc pallor, Respiratory insufficiency due to muscle weakness, Kyphosis, Dis... OMIM:617087
Nemaline Myopathy 4
Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Kyphoscoliosis, Waddling gait, Di... OMIM:609285
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Gait disturbance, Skeletal muscle atrophy, Paresthesia... ORPHA:101081
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Dementia, Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty wal... ORPHA:85292
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Impaired pain sensation, Kyph... ORPHA:3115
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Ataxia, Kyphoscoliosis, Respiratory distress, Distal amyotrophy OMIM:619099
Leukoencephalopathy, Brain Calcifications, And Cysts
Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... OMIM:614561
Episodic Ataxia, Type 1
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia OMIM:160120
Congenital Muscular Dystrophy Without Intellectual Disability
Proximal amyotrophy, Facial diplegia, Achilles tendon contracture, Kyphoscoliosis, EMG: myopathic... ORPHA:370980
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Steppage gait, Kyphoscoliosis, Distal sensory impairme... OMIM:605588
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Steppage gait, Hand tremor, Somatic sensory dysfunction OMIM:300905
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Small for gestational age, Failure to thrive, Kyphoscoliosis, Arthrogryposis multiplex congenita,... OMIM:212540
Spinal Muscular Atrophy, Ryukyuan Type
Proximal amyotrophy, Spinal muscular atrophy, Kyphoscoliosis OMIM:271200
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Upper limb amyotrophy, Kyphoscoliosis, Knee flexion contracture, Proximal muscle weakness in uppe... ORPHA:496689
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Distal sensory impairment, Ankle flexion contracture, Foot dorsiflexor weakness, Kyphoscoliosis OMIM:616668
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spastic Paraplegia 18, Autosomal Recessive
Gait disturbance, Skeletal muscle atrophy, Kyphosis, Scoliosis, Lower limb muscle weakness OMIM:611225
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Rigidity, Chorea, Cognitive impairment, Myoclonus, Tremor, Ataxia, Upper motor neuron d... ORPHA:401901
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Upper limb amyotrophy, Kyphoscoliosis, Decreased ampli... ORPHA:99950
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Abnormal cortical gyration, Kyphoscoliosis, Respiratory insufficiency due to muscle weakness, Con... OMIM:607855
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Cognitive impairment, Tremor, Ataxia, Spasticity OMIM:611105
Ataxia-Oculomotor Apraxia Type 4
Dystonia, Progressive distal muscular atrophy, Obesity, Kyphoscoliosis, Muscular dystrophy, Ataxi... ORPHA:459033
Autosomal Spastic Paraplegia Type 72
Postural tremor, Impaired vibration sensation at ankles, Rigidity, Spastic gait, Memory impairment ORPHA:401849
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis OMIM:158580
Maternal Uniparental Disomy Of Chromosome 9
Elbow ankylosis, Abnormal vertebral morphology, Failure to thrive, Hamstring contractures, Osteoc... ORPHA:96183
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Kyphoscoliosis, Distal sensory impairment, Distal amyo... OMIM:180800
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Impaired pain sensation, Distal upper limb amyotrophy, Kyphosis, Distal lower l... ORPHA:101075
Choreoathetosis, Familial Inverted
Gait disturbance, Dementia, Rigidity, Progressive choreoathetosis, Abnormal pyramidal sign OMIM:118750
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity OMIM:619491
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Limb muscle weakness, Steppage gait, Kyphoscoliosis, D... OMIM:118220
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Rigidity, Cognitive impairment, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, ... OMIM:615528
Autosomal Recessive Spastic Paraplegia Type 71
Babinski sign, Hand tremor, Spastic gait, Lower limb spasticity, Progressive spastic paraplegia ORPHA:401840
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Steppage gait, Kyphoscoliosis, Distal sensory impairme... OMIM:145900
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Dementia, Motor deterioration, Cognitive impairment, Myoclonus, Abnormality of extrap... ORPHA:79262
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus, Mental deterioration OMIM:616187
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Inability to walk, Kyphoscoliosis, Flexion contracture OMIM:617977
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... ORPHA:1145
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Steppage gait, Kyphoscoliosis, Distal sensory impairme... OMIM:604563
Charcot-Marie-Tooth Disease, Type 4K
Dystonia, Skeletal muscle atrophy, Kyphoscoliosis, Ataxia, Difficulty walking OMIM:616684
Brown-Vialetto-Van Laere Syndrome 2
Optic atrophy, Respiratory insufficiency, Limb muscle weakness, Kyphoscoliosis, Facial palsy, Gen... OMIM:614707
Multiple Epiphyseal Dysplasia Type 5
Abnormal acetabulum morphology, Gait disturbance, Genu varum, Abnormal hip joint morphology, Mult... ORPHA:93311
Spinocerebellar Ataxia 43
Rigidity, Distal sensory impairment, Ataxia, Tremor, Limb ataxia, Gait ataxia OMIM:617018
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Spinocerebellar Ataxia Type 31
Tremor, Impaired vibratory sensation, Gait ataxia, Spasticity ORPHA:217012
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Dementia, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia,... OMIM:615362
Spinocerebellar Ataxia Type 12
Postural tremor, Parkinsonism, Dementia, Gait disturbance, Tremor by anatomical site, Cognitive i... ORPHA:98762
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Limb muscle weakness, Steppage gait, Kyphoscoliosis, D... OMIM:118200
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Decreased muscle mass, Kyphoscoliosis, Shuffling gait, Atlantoaxial abnormality ORPHA:3433
Spinocerebellar Ataxia 37
Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction ORPHA:423296
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Skeletal muscle atrophy, Impaired pain sensation, Decreased nerve conduction ve... ORPHA:101078
Paralysis Agitans, Juvenile, Of Hunt
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:168100
Atypical Pantothenate Kinase-Associated Neurodegeneration
Clumsiness, Parkinsonism, Gait disturbance, Violent behavior, Rigidity, Frequent falls, Chorea, C... ORPHA:216873
Parastremmatic Dwarfism
Genu valgum, Kyphosis, Flexion contracture, Short neck, Scoliosis OMIM:168400
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Dystonia, Myoclonus, Involuntary movements OMIM:611092
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus ORPHA:494526
Corticobasal Syndrome
Involuntary movements, Gait disturbance, Oromotor apraxia, Dementia, Limb myoclonus, Dystonia, Li... ORPHA:454887
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus OMIM:616921
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Distal sensory impairment, Kyphoscoliosis, Decreased motor nerve conduction velocity, Distal amyo... OMIM:607831
Sillence Syndrome
Flat acetabular roof, Abnormal vertebral morphology, Intervertebral disc degeneration, Slender bu... ORPHA:3168
Central Core Disease
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Myopathy, Neonatal respirat... ORPHA:597
Alkaptonuria
Vertebral fusion, Intervertebral disc degeneration, Arthritis, Kyphosis, Thickened Achilles tendo... OMIM:203500
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Cognitive impairment, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Unsteady g... OMIM:615768
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Neuronopathy, Distal Hereditary Motor, Type Viii
Nonprogressive muscular atrophy, Hip contracture, Proximal lower limb amyotrophy, Arthrogryposis ... OMIM:600175
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Apathy, Bradykinesia, Shuffling gait, Falls, Resting tremor, Short stepped shuffling ga... ORPHA:306692
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
Leukodystrophy, Hypomyelinating, 17
Inability to walk, Kyphoscoliosis, Respiratory distress, Flexion contracture OMIM:618006
Developmental And Epileptic Encephalopathy 41
Inability to walk, Kyphoscoliosis, Flexion contracture, Lethargy OMIM:617105
Myopathic Ehlers-Danlos Syndrome
Joint contracture of the hand, Elbow flexion contracture, Contractures involving the joints of th... ORPHA:536516
Autosomal Dominant Spastic Ataxia Type 1
Impaired proprioception, Babinski sign, Dystonia, Spastic gait, Spastic dysarthria, Lower limb sp... ORPHA:251282
Progressive Myoclonic Epilepsy Type 1
Dementia, Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia ORPHA:308
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Intervertebral space narrowing, Gait disturbance, Irregula... OMIM:271630
Cerebellar Ataxia, Cayman Type
Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Broad-based gait, Gait ataxia ORPHA:94122
Ullrich Congenital Muscular Dystrophy 2
Kyphoscoliosis, Facial palsy, Congenital muscular dystrophy, Nocturnal hypoventilation, Increased... OMIM:616470
Tremor, Hereditary Essential, 6
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor OMIM:616736
Scheuermann Disease
Morbus Scheuermann, Osteochondrosis, Kyphosis OMIM:181440
Leukoencephalopathy with metaphyseal chondrodysplasia
Tremor, Babinski sign, Gait disturbance, Spastic paraplegia OMIM:300660
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Hypogonadism, Kyphoscoliosis, Skeletal muscle atrophy, Flexion contracture OMIM:612079
Dystonia 11, Myoclonic
Writer's cramp, Agoraphobia, Torticollis, Myoclonus, Tremor, Anxiety OMIM:159900
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... ORPHA:464440
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Respiratory insufficiency due to muscle weakness, Kyphosis, Spinal rigidity, Hyperlordosis, Incre... OMIM:300718
Chondrocalcinosis Due To Apatite Crystal Deposition
Costal cartilage calcification, Chondrocalcinosis, Costochondral pain, Osteoarthritis of the smal... OMIM:118610
Richieri Costa-Da Silva Syndrome
Decreased muscle mass, Skeletal muscle hypertrophy, Vertebral wedging, Beaking of vertebral bodie... ORPHA:3101
Myasthenic Syndrome, Congenital, 25, Presynaptic
Myopathy, Generalized amyotrophy, Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis OMIM:618323
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Stridor, Triceps weakness, Impaired pain sensation, Kyphoscoliosi... OMIM:619574
Dystonia 27
Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dystonia, Action tremor OMIM:616411
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait OMIM:617917
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Knee dislocation, Hip contracture, Coronal cleft vertebrae, Irregular vertebral endplates, Abnorm... OMIM:618363
Glutathionuria
Tremor OMIM:231950
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... ORPHA:98807
Spastic Paraplegia 20, Autosomal Recessive
Dysmetria, Kyphoscoliosis, Spastic gait, Ankle clonus, Flexion contracture, Distal amyotrophy, Ca... OMIM:275900
Chorea, Benign Hereditary
Chorea, Anxiety, Gait disturbance OMIM:118700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Proximal amyotrophy, Vertebral fusion, Macroglossia, Achilles tendon contracture, Shoulder girdle... OMIM:606612
Parkinsonism With Spasticity, X-Linked
Babinski sign, Bradykinesia, Cogwheel rigidity, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Spinocerebellar Ataxia Type 37
Gait disturbance, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis... ORPHA:363710
Spinocerebellar Ataxia Type 28
Babinski sign, Dystonia, Kinetic tremor, Rigidity, Cognitive impairment, Spasticity, Head tremor,... ORPHA:101109
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Dementia, Abnormal pyramidal sign OMIM:301840
Huntington Disease-Like 2
Dystonia, Dementia, Rigidity, Chorea, Apathy, Bradykinesia, Irritability, Action tremor, Anxiety OMIM:606438
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Cognitive impairment, Myocl... ORPHA:314632
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Dystonia, Choreoathetosis, Kyphoscoliosis, Spastic gait, Facial hypotonia, Bradykinesia, Shufflin... OMIM:300055
Intellectual Developmental Disorder, X-Linked 19
Kyphoscoliosis, Scoliosis, Small for gestational age OMIM:300844
Hyperekplexia 4
Distal arthrogryposis, Kyphoscoliosis, Flexion contracture, Camptodactyly, Respiratory failure OMIM:618011
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Dementia, Tremor, Ataxia, Apraxia, Spasticity OMIM:615889
Leukodystrophy, Hypomyelinating, 3
Failure to thrive, Progressive flexion contractures, Kyphoscoliosis, Arthrogryposis multiplex con... OMIM:260600
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Parkinson Disease 2, Autosomal Recessive Juvenile
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:600116
Bethlem Myopathy 2
Myopathy, Kyphosis, Hip dislocation, Increased variability in muscle fiber diameter, Flexion cont... OMIM:616471
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Gait disturbance, Skeletal muscle hypertrophy, Impaired pain sensation, Kyphosis, ... ORPHA:99014
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Kyphoscoliosis, Distal sensory impairment, Inability t... OMIM:214400
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Dystonia, Rigidity, Aggressive behavior, Bradykinesia, Tremor, Apraxia, Spasticity, F... OMIM:612953
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Parkinson Disease 15, Autosomal Recessive Early-Onset
Babinski sign, Dystonia, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... OMIM:260300
Myotonia With Skeletal Abnormalities And Mental Retardation
Firm muscles, Skeletal muscle hypertrophy, Vertebral wedging, Kyphoscoliosis, Genu valgum OMIM:255710
Spinocerebellar Ataxia Type 14
Rigidity, Cognitive impairment, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Ga... ORPHA:98763
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Gait disturbance, Cubitus valgus, Kyphosis, Hypogonadism, Congenital muscular dystrophy ORPHA:1875
Primary Dystonia, Dyt4 Type
Gait disturbance, Torticollis, Kyphoscoliosis, Eunuchoid habitus, Laryngeal dystonia, Respiratory... ORPHA:98805
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Myoclonus, Tremor, Ataxia, Hyperactivity, Tetraparesis, Spasticity, Mental deterioratio... OMIM:615924
Migraine, Familial Hemiplegic, 1
Hemiparesis, Tremor, Ataxia, Hemiplegia, Anxiety OMIM:141500
Diastrophic Dysplasia
Costal cartilage calcification, Hip contracture, Kyphoscoliosis, Cervical kyphosis, Hypoplastic c... OMIM:222600
Parkinson Disease 22, Autosomal Dominant
Tremor, Gait disturbance, Resting tremor, Bradykinesia OMIM:616710
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Rigidity, Bradykinesia, Resting tremor, Parkinsonism, Anxiety OMIM:605909
Spinocerebellar Ataxia 12
Dementia, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tr... OMIM:604326
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Abnormality of the elbow, Abnormal vertebral morphology, Beaking of vertebral bodies, Failure to ... ORPHA:93359
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Unsteady gait, Truncal ataxia, Tremor OMIM:616127
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Familial Scheuermann Disease
Abnormal form of the vertebral bodies, Kyphosis ORPHA:3135
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, Arthrogryposis multipl... OMIM:618291
You-Hoover-Fong Syndrome
Ataxia, Kyphoscoliosis OMIM:616954
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Platyspondyly, Increased vertebral height ORPHA:93304
Scapuloperoneal Spinal Muscular Atrophy
Peroneal muscle atrophy, Scapuloperoneal amyotrophy, Scapular muscle atrophy, Respiratory insuffi... OMIM:181405
Spinal Muscular Atrophy, Jokela Type
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations OMIM:615048
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Myopathy, Skeletal muscle atrophy, Kyphoscoliosis ORPHA:300179
Episodic Ataxia Type 1
Choreoathetosis, Kyphoscoliosis, Respiratory distress, Tip-toe gait, Calf muscle hypertrophy, Sco... ORPHA:37612
Spinocerebellar Ataxia Type 20
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Lary... ORPHA:101110
Dysspondyloenchondromatosis
Osteoarthritis, Kyphoscoliosis, Joint dislocation, Platyspondyly, Genu valgum, Anisospondyly, Enl... ORPHA:85198
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Dementia, Aggressive behavior, Falls, Bradykinesia, Spastic tetraple... OMIM:617225
Spondyloepiphyseal Dysplasia, Stanescu Type
Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly OMIM:616583
Nemaline Myopathy 2
Slender build, Apnea, Calf muscle pseudohypertrophy, Gait disturbance, Weakness of facial muscula... OMIM:256030
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Cognitive impairment, Tremor, Ataxia, Irritability OMIM:612126
Progressive Pseudorheumatoid Dysplasia
Genu varum, Decreased cervical spine mobility, Kyphoscoliosis, Enlarged interphalangeal joints, P... OMIM:208230
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Chorea, Kyphoscoliosis, Hypogonadotropic hypogonadism,... OMIM:604168
Spinocerebellar Ataxia 29
Dysmetria, Intention tremor, Impaired tandem gait, Dysdiadochokinesis, Nonprogressive cerebellar ... OMIM:117360
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:607688
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Restrictive ventilatory defect, Weakness of facial musculature, Small for gestational age, Arthro... OMIM:618484
Osteogenesis Imperfecta, Type Xiii
Skeletal muscle atrophy, Kyphoscoliosis, Wormian bones, Platyspondyly, Dislocated radial head, De... OMIM:614856
Congenital Arthrogryposis With Anterior Horn Cell Disease
Dystonia, Skeletal muscle atrophy, Facial diplegia, Respiratory insufficiency due to muscle weakn... OMIM:611890
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Rigidity, Apathy, Bradykinesia, Falls, Tremor, Parkinsonism with favorable response to ... ORPHA:240085
Dystonia 23
Gait disturbance, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Head tremor, Limb dystonia OMIM:614860
King-Denborough Syndrome
Minicore myopathy, Weakness of facial musculature, Failure to thrive, Kyphoscoliosis, Muscle fibe... OMIM:619542
Dystonia, Dopa-Responsive
Postural tremor, Babinski sign, Dystonia, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... OMIM:128230
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Spinocerebellar Ataxia 40
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Spastic parapar... OMIM:616053
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Myoclonus, Progressive neurologic deterioration, Tremor, Hypertonia, I... OMIM:261630
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Internally nucleated skeletal muscle fibers, Decreased n... OMIM:618138
Dystonia 16
Postural tremor, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Parkinsonism,... ORPHA:210571
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait disturbance, Dystonia, Dysmetria, Cognitive impairment, Tremor, Oculomotor apraxia, Dysdiado... OMIM:617145
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Spinocerebellar Ataxia Type 40
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Gait ataxia, Sp... ORPHA:423275
Spinocerebellar Ataxia 19
Postural tremor, Cognitive impairment, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxi... OMIM:607346
Congenital Myasthenic Syndrome
Spinal deformities, Apneic episodes precipitated by illness, fatigue, stress, Arthrogryposis mult... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Spinal deformities, Apneic episodes precipitated by illness, fatigue, stress, Arthrogryposis mult... ORPHA:98914
Myopathy, Congenital, Bailey-Bloch
Restrictive ventilatory defect, Kyphoscoliosis, Skeletal muscle atrophy, Flexion contracture OMIM:255995
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Spastic ataxia, Fasciculations, Tremor... OMIM:611302
13Q12.3 Microdeletion Syndrome
Obstructive sleep apnea, Impaired pain sensation, Failure to thrive, Congenital diaphragmatic her... ORPHA:412035
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the vertebral column, Abnormal intervertebral disk morphology, Hip contracture, Ab... ORPHA:99642
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in lower limbs, Optic atrophy, Hand muscle weakness, Paresthesia, Weakne... ORPHA:99956
Cerebrooculofacioskeletal Syndrome 2
Kyphoscoliosis, Small for gestational age, Camptodactyly of finger OMIM:610756
Rhizomelic Chondrodysplasia Punctata, Type 1
Coronal cleft vertebrae, Respiratory insufficiency, Kyphoscoliosis, Severe failure to thrive, Fle... OMIM:215100
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Foxg1 Syndrome
Dystonia, Abnormal respiratory system physiology, Choreoathetosis, Kyphoscoliosis, Pachygyria, In... ORPHA:561854
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Restrictive ventilatory defect, Pelvic girdle muscle weakness, Vertebral fusion, Macroglossia, Ac... OMIM:607155
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Spinocerebellar Ataxia Type 27
Gait disturbance, Hand tremor, Aggressive behavior, Tremor, Truncal ataxia, Akinesia, Limb ataxia... ORPHA:98764
Autosomal Recessive Spastic Paraplegia Type 67
Babinski sign, Spastic gait, Limb tremor, Lower limb spasticity, Difficulty walking, Progressive ... ORPHA:401820
Autosomal Recessive Spastic Paraplegia Type 53
Impaired proprioception, Failure to thrive, Upper limb hypertonia, Kyphosis, Impaired vibratory s... ORPHA:319199
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Dystonia, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... OMIM:607317
Combined Oxidative Phosphorylation Deficiency 32
Dystonia, Optic atrophy, Choreoathetosis, Kyphoscoliosis, Inability to walk, Flexion contracture OMIM:617664
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Decreased muscle mass, Lumbar kyphosis in infancy, Dysmetria, Patellar subluxation, Kyphoscoliosi... ORPHA:3041
Myopathy, Centronuclear, 2
Respiratory insufficiency due to muscle weakness, Generalized amyotrophy, EMG: myopathic abnormal... OMIM:255200
Ichthyosis--Cheek--Eyebrow Syndrome
Kyphoscoliosis OMIM:146720
Congenital Muscular Dystrophy, Ullrich Type
Abnormal muscle fiber morphology, Torticollis, Generalized amyotrophy, EMG: myopathic abnormaliti... ORPHA:75840
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Nonprogressive cerebellar ataxi... ORPHA:314978
Spinocerebellar Ataxia 48
Babinski sign, Dystonia, Dysmetria, Chorea, Tremor, Ataxia, Irritability, Mental deterioration, P... OMIM:618093
Basal Ganglia Calcification, Idiopathic, 1
Athetosis, Parkinsonism, Gait disturbance, Dystonia, Rigidity, Chorea, Bradykinesia, Limb dysmetr... OMIM:213600
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Foca... ORPHA:240103
Gm1-Gangliosidosis, Type Iii
Dystonia, Skeletal muscle atrophy, Hypoplastic acetabulae, Platyspondyly, Kyphosis, Scoliosis, An... OMIM:230650
Hypermanganesemia With Dystonia 2
Babinski sign, Gait disturbance, Dystonia, Oromandibular dystonia, Bradykinesia, Tremor, Ankle cl... OMIM:617013
Spinocerebellar Ataxia Type 35
Babinski sign, Pseudobulbar paralysis, Dysmetria, Torticollis, Intention tremor, Progressive cere... ORPHA:276193
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Sp... OMIM:270500
Lichtenstein-Knorr Syndrome
Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Ullrich Congenital Muscular Dystrophy 1
Increased laxity of ankles, Reduced muscle collagen VI, Respiratory insufficiency, Torticollis, F... OMIM:254090
Chst3-Related Skeletal Dysplasia
Intervertebral space narrowing, Abnormality of the elbow, Kyphoscoliosis, Abnormal form of the ve... ORPHA:263463
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Secondary amenorrhea, Irregular vertebral endplates, Kyphoscoliosis, Platyspondyly, Lumbar scoliosis OMIM:612847
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Back pain, ... OMIM:277300
Brunner Syndrome
Self-injurious behavior, Low frustration tolerance, Aggressive behavior, Kinetic tremor OMIM:300615
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Kyphoscoliosis, Arthrogryposis multiplex congenita, Knee flexion contracture, ... OMIM:214150
Ck Syndrome
Kyphoscoliosis, Slender build, Pachygyria, Hyperactivity, Polymicrogyria, Lumbar hyperlordosis ORPHA:251383
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism OMIM:614203
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Dystonia, Kyphosis, Ataxia, Hip dislocation, Waddling gait, Inability to walk, Broad-based gait, ... OMIM:616756
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Babinski sign, Dysmetria, Progressive gait ataxia, Intention tremor, Progressive cere... ORPHA:284332
Spinocerebellar Ataxia 23
Babinski sign, Dysmetria, Impaired vibration sensation in the lower limbs, Tremor, Limb ataxia, G... OMIM:610245
Brachyolmia Type 1, Hobaek Type
Flat acetabular roof, Intervertebral space narrowing, Sclerotic foci of metaphyses of the elbow, ... OMIM:271530
Mental Retardation, Autosomal Recessive 48
Kinetic tremor, Aggressive behavior, Self-mutilation, Inability to walk, Waddling gait OMIM:616269
Atypical Progressive Supranuclear Palsy Syndrome
Parkinsonism, Dementia, Tremor by anatomical site, Rigidity, Falls, Bradykinesia, Extrapyramidal ... ORPHA:99750
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Macroglossia, Kyphoscoliosis, Difficulty walking OMIM:227250
Primary Dystonia, Dyt2 Type
Involuntary movements, Torticollis, Tremor, Generalized dystonia, Torsion dystonia, Blepharospasm... ORPHA:99657
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Myopathy, Scoliosis, Kyphosis OMIM:618234
Spinocerebellar Ataxia, Autosomal Recessive 22
Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, Unsteady gait, Abnorm... OMIM:616948
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Respiratory insufficiency, Arthrogryposis multiplex congenita, Kyphosis, Incre... ORPHA:178148
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... OMIM:606324
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Intervertebral space narrowing, Genu varum, Irregular vertebral endplates, Platyspondyly, Genu va... OMIM:609223
Wild Type Abeta2M Amyloidosis
Abnormal intervertebral disk morphology, Paresthesia, Macroglossia, Decreased nerve conduction ve... ORPHA:85446
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Kyphoscoliosis, Thoracolumbar kyphosis OMIM:236660
Warburg Micro Syndrome 3
Decreased muscle mass, Optic atrophy, Kyphoscoliosis, Polymicrogyria, Ankle clonus, Flexion contr... OMIM:614222
Dystonia 16
Postural tremor, Parkinsonism, Involuntary movements, Gait disturbance, Cognitive impairment, Bra... OMIM:612067
Mitochondrial Dna Depletion Syndrome 11
Proximal amyotrophy, Respiratory insufficiency, Spinal deformities, Generalized amyotrophy, Facia... OMIM:615084
Allan-Herndon-Dudley Syndrome
Dystonia, Failure to thrive in infancy, Limb hypertonia, Skeletal muscle atrophy, Small for gesta... ORPHA:59
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Dementia, Rigidity, Aggressive behavior, Abnormality of extrapyramidal motor function, ... OMIM:300894
Behr Syndrome
Progressive spasticity, Babinski sign, Gait disturbance, Dysmetria, Tremor, Ataxia OMIM:210000
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Absent muscle dystrophin expression, Abnormality of the shoulder girdle musculature, Quadriceps m... ORPHA:206546
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Small for gestational age, Kyphosis, Waddling gait, Delayed ossification of carpal bones, Decreas... OMIM:618392
Spinocerebellar Ataxia 35
Babinski sign, Dysmetria, Torticollis, Intention tremor, Ataxia, Incoordination, Difficulty walking OMIM:613908
Marinesco-Sjogren Syndrome
Myopathy, Skeletal muscle atrophy, Failure to thrive, Cubitus valgus, Rimmed vacuoles, Kyphosis, ... OMIM:248800
Whistling Face Syndrome, Recessive Form
Shoulder flexion contracture, Kyphoscoliosis, Knee flexion contracture, Camptodactyly, Short neck... OMIM:277720
Rahman Syndrome
Kyphoscoliosis, Camptodactyly OMIM:617537
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Babinski sign, Dystonia, Scissor gait, Loss of ambulation, Oromandibular dystonia, Bradykinesia, ... ORPHA:521406
Spinocerebellar Ataxia 18
Babinski sign, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis OMIM:607458
Spondyloepiphyseal Dysplasia Tarda
Paresthesia, Knee osteoarthritis, Abnormal lumbar spine morphology, Premature osteoarthritis, Lim... ORPHA:93284
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Kyphoscoliosis OMIM:615541
Mitochondrial Complex I Deficiency, Nuclear Type 8
Dystonia, Kyphoscoliosis, Respiratory insufficiency OMIM:618230
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Triceps weakness, Generalized amyotrophy, Cough, Respiratory distress, Left ventricular... ORPHA:86812
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Kyphosis, Flexion contracture, Campt... OMIM:618393
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Camptodactyly OMIM:618453
Spastic Paraplegia 46, Autosomal Recessive
Upper limb dysmetria, Infertility, Limb muscle weakness, Spastic gait, Limb dysmetria, Impaired v... OMIM:614409
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Emotional lability, Parkinsonis... ORPHA:71517
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Paresthesia, Dysmetria, Hypogonadotropic hypogonadism, Acute rhabdomyolysis, Abnormality of the c... ORPHA:48431
Typical Nemaline Myopathy
Genu varum, Nocturnal hypoventilation, Gait disturbance, Respiratory insufficiency, Arthrogryposi... ORPHA:171436
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Abnormality of the curvature of the vertebral column, Genu varum, Laryngotracheomalacia, Small fo... ORPHA:93360
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Unsteady gait, Limb ataxia, Gait ataxia OMIM:213200
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Babinski sign, Gait disturbance, Rigidity, Falls, Bradykinesia, Impaired tandem gait, Slurred spe... OMIM:300423
Cerebrooculofacioskeletal Syndrome 4
Failure to thrive in infancy, Flexion contracture of toe, Kyphoscoliosis, Arthrogryposis multiple... OMIM:610758
Aicardi-Goutieres Syndrome 6
Tremor, Dystonia, Loss of ability to walk, Rigidity OMIM:615010
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98863
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Impaired vibration sensation ... OMIM:600363
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98855
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Urocanase Deficiency
Tremor, Ataxia, Aggressive behavior OMIM:276880
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Rigidity, Choreoathetosis, Progressive neurologic deterioration, Bradykinesia, Tremor, ... OMIM:261640
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Respiratory insufficiency, Platyspondyly, Knee flexion contracture, Kyphosis, En... OMIM:313420
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Intention tremor OMIM:302500
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
X-Linked Intellectual Disability, Stocco Dos Santos Type
Congenital bilateral hip dislocation, Hyperactivity, Small for gestational age, Kyphosis ORPHA:85288
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Aggressive behavior, Tremor, Ataxia, Oculomotor apraxia, Hyperactivity... OMIM:612716
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broad-based gait OMIM:619470
Flynn-Aird Syndrome
Ataxia, Kyphoscoliosis OMIM:136300
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Lower limb spasticit... ORPHA:3077
Combined Oxidative Phosphorylation Deficiency 15
Cognitive impairment, Tremor, Ataxia, Incoordination, Unsteady gait, Abnormal pyramidal sign OMIM:614947
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
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Kyphoscoliosis OMIM:600384
Spinocerebellar Ataxia 7
Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor, Progressi... OMIM:164500
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Kyphoscoliosis, Platyspondyly, Waddling gait, Enlarged joints, Severe ... OMIM:184252
Lower Motor Neuron Syndrome With Late-Adult Onset
Gait disturbance, Fasciculations, Tremor, Inability to walk, Tongue fasciculations, Impaired dist... ORPHA:276435
Neurodegeneration With Brain Iron Accumulation 3
Babinski sign, Dementia, Dystonia, Rigidity, Choreoathetosis, Writer's cramp, Chorea, Bradykinesi... OMIM:606159
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Dysmetria, Steppage gait, Distal sensory impairment, Ataxia, Tremor, Gait ataxia OMIM:618387
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Atypical Juvenile Parkinsonism
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting tremo... ORPHA:391411
Orofaciodigital Syndrome Xi
Kyphoscoliosis, Hypoplasia of the odontoid process OMIM:612913
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Kyphoscoliosis OMIM:117850
Fibrosis Of Extraocular Muscles, Congenital, 3C
Congenital fibrosis of extraocular muscles, Kyphosis OMIM:609384
Spastic Paraplegia 53, Autosomal Recessive
Gait disturbance, Dystonia, Upper limb hypertonia, Kyphosis, Impaired vibratory sensation, Lower ... OMIM:614898
Spinocerebellar Ataxia 42
Impaired vibration sensation at ankles, Babinski sign, Spastic gait, Cognitive impairment, Spasti... OMIM:616795
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Babinski sign, Dysmetria, Progressive gait ataxia, Progressive cereb... ORPHA:284324
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Myopathy, Ragged-red muscle fibers, Weakness of facial musculature, Spinal deformities, Respirato... ORPHA:352447
Urocanic Aciduria
Ataxia, Truncal ataxia, Broad-based gait, Action tremor, Gait ataxia ORPHA:210128
Spinocerebellar Ataxia Type 21
Rigidity, Cognitive impairment, Abnormality of extrapyramidal motor function, Tremor, Progressive... ORPHA:98773
Metatropic Dysplasia
Respiratory insufficiency, Long coccyx, Arthrogryposis multiplex congenita, Platyspondyly, Kyphos... OMIM:156530
Myopathy, Spheroid Body
Tremor, Waddling gait, Broad-based gait OMIM:182920
Epilepsy, Progressive Myoclonic, 6
Tremor, Ataxia, Myoclonus, Difficulty walking OMIM:614018
Joubert Syndrome 18
Kyphoscoliosis, Camptodactyly OMIM:614815
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Myopathy, Dystonia, Failure to thrive, Kyphosis, Flexion contracture OMIM:618237
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Kearns-Sayre Syndrome
Ataxia, Progressive intervertebral space narrowing, Ragged-red muscle fibers, Skeletal muscle atr... ORPHA:480
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Babinski sign, Dystonia, Dysmetria, Aggressive behavior, Cognitive impairment, Bradykinesia, Trem... OMIM:615157
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Dystonia, Dementia, Myoclonic spasms, Dysmetria, Chorea, Cognitive impairment, Myoclo... ORPHA:79263
Dystonia, Juvenile-Onset
Achalasia, Kyphoscoliosis, Generalized dystonia, Small for gestational age OMIM:607371
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Irregular vertebral endplates, Kyphoscoliosis, Joint contracture of the hand, Platyspondyly, Disl... OMIM:612350
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the vertebral column, Abnormality of the knee, Irregular acetabular roof, Kyphosco... ORPHA:93316
Spinocerebellar Ataxia 17
Dystonia, Dementia, Rigidity, Dysmetria, Chorea, Aggressive behavior, Myoclonus, Frontal lobe dem... OMIM:607136
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Paroxysmal dystonia, Myoclonus, Writer's cramp OMIM:608105
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Ovoid vert... ORPHA:40
Mitochondrial Myopathy And Sideroblastic Anemia
Myopathy, Generalized limb muscle atrophy, Scoliosis, Kyphosis ORPHA:2598
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Stereotypy OMIM:617862
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus, Inability to wal... ORPHA:2590
Spinocerebellar Ataxia, Autosomal Recessive 8
Dysmetria, Kyphosis, Ataxia, Limb ataxia, Gait ataxia, Scoliosis OMIM:610743
Warburg Micro Syndrome 1
Failure to thrive, Optic atrophy, Kyphoscoliosis, Perisylvian polymicrogyria OMIM:600118
Autosomal Dominant Spastic Paraplegia Type 6
Postural tremor, Babinski sign, Gait disturbance, Lower limb spasticity, Impaired vibratory sensa... ORPHA:100988
Autosomal Recessive Spastic Paraplegia Type 9B
Impaired vibration sensation at ankles, Skeletal muscle atrophy, Kyphoscoliosis, Spastic gait, Ti... ORPHA:447760
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Congenital foot contractures, Scoliosis, Distal amyotrophy ORPHA:3454
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Babinski sign, Steppage gait, Distal sensory impairment, Tremor, Hypertonia, Spasticity, Mental d... OMIM:609260
Kufor-Rakeb Syndrome
Babinski sign, Dementia, Gait disturbance, Dystonia, Rigidity, Torticollis, Aggressive behavior, ... OMIM:606693
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Dementia, Frequent falls, Myoclonus, Fasciculations, Tremor, Tongue fasciculations, Difficulty wa... OMIM:159950
Congenital Disorder Of Glycosylation, Type Iik
Failure to thrive, Kyphoscoliosis OMIM:614727
Spinocerebellar Ataxia, Autosomal Recessive 14
Dysmetria, Cognitive impairment, Intention tremor, Dysdiadochokinesis, Spasticity, Gait ataxia OMIM:615386
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Gait disturbance, Kyphoscoliosis, Back pain, Spastic ataxia, Cervical spondylosis, Somatic sensor... ORPHA:199354
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, Ataxia OMIM:619028
Parkinsonism With Polyneuropathy
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:619279
Autosomal Recessive Spastic Paraplegia Type 77
Dystonia, Paroxysmal dystonia, Sudden episodic apnea, Scissor gait, Loss of ambulation, Kyphoscol... ORPHA:466722
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Limb hypertonia, Rigidity, Choreoathetosis, Progressive neurologic deterioration, Tremo... OMIM:233910
Neuronal Intranuclear Inclusion Disease
Gait disturbance, Dementia, Rigidity, Cognitive impairment, Tremor, Ataxia, Somatic sensory dysfu... OMIM:603472
Arthrogryposis, Distal, Type 3
Decreased muscle mass, Distal arthrogryposis, Kyphoscoliosis, Arthrogryposis multiplex congenita,... OMIM:114300
Dentatorubral Pallidoluysian Atrophy
Impaired proprioception, Involuntary movements, Dementia, Dyssynergia, Choreoathetosis, Dysmetria... ORPHA:101
Caribbean Parkinsonism
Dystonia, Dementia, Weakness due to upper motor neuron dysfunction, Rigidity, Myoclonus, Frontal ... ORPHA:97355
Atypical Werner Syndrome
Secondary amenorrhea, Chondrocalcinosis, Skeletal muscle atrophy, Failure to thrive, Intervertebr... ORPHA:79474
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Dementia, Rigidity, Aggressive behavior, Bradykinesia, Tremor, Parkinsonism, Spastic pa... ORPHA:329284
Coffin-Siris Syndrome 6
Attention deficit hyperactivity disorder, Kyphoscoliosis, Diaphragmatic eventration, Wormian bones OMIM:617808
Aneurysm-Osteoarthritis Syndrome
Knee osteoarthritis, Intervertebral disc degeneration, Patent ductus arteriosus, Left ventricular... ORPHA:284984
Dopa-Responsive Dystonia
Irritability, Panic attack, Anxiety, Oculogyric crisis, Lethargy, Gait disturbance, Poor coordina... ORPHA:255
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Frequent falls, Dysmetria, Chorea, Torticollis, Spastic ataxia, Intention ... ORPHA:397946
Atypical Rett Syndrome
Involuntary movements, Panic attack, Gait disturbance, Dystonia, Limb myoclonus, Impaired pain se... ORPHA:3095
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Abnormal vertebral morphology, Kyphoscoliosis, Truncal ataxia, Hyperlo... OMIM:616817
Sandhoff Disease
Failure to thrive, Ataxia, Kyphosis ORPHA:796
Osteomesopyknosis
Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Sclerotic vertebral body ORPHA:2777
Rett Syndrome
Dystonia, Cachexia, Skeletal muscle atrophy, Apnea, Kyphosis, Truncal ataxia, Gait ataxia, Scolio... OMIM:312750
Congenital Fiber-Type Disproportion Myopathy
Pelvic girdle muscle weakness, Hip contracture, Respiratory failure, Weakness of muscles of respi... ORPHA:2020
Dystonia 13, Torsion, Autosomal Dominant
Writer's cramp, Torticollis, Oromandibular dystonia, Tremor, Torsion dystonia, Blepharospasm, Lim... OMIM:607671
X-Linked Dystonia-Parkinsonism
Frequent falls, Chorea, Hand tremor, Myoclonus, Shuffling gait, Bradykinesia, Focal dystonia, Par... ORPHA:53351
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Spinocerebellar Ataxia, Autosomal Recessive 21
Frequent falls, Tremor, Ataxia, Distal sensory impairment, Spasticity, Gait ataxia OMIM:616719
Brown-Vialetto-Van Laere Syndrome 1
Stridor, Respiratory insufficiency, Facial palsy, Kyphosis, Ataxia, Respiratory distress, Cranial... OMIM:211530
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Cervical subluxation, Irregular vertebral endplates, Kyphoscoliosis, Platyspondyly, Arthritis, Sh... OMIM:184100
Gerstmann-Straussler Disease
Dementia, Rigidity, Aggressive behavior, Myoclonus, Bradykinesia, Tremor, Emotional lability, Tru... OMIM:137440
Parkinsonism-Dystonia 2, Infantile-Onset
Dystonia, Cognitive impairment, Shuffling gait, Tremor, Incoordination, Parkinsonism, Oculogyric ... OMIM:618049
Parkinson-Dementia Syndrome
Parkinsonism, Dementia, Rigidity, Tremor, Abnormal pyramidal sign OMIM:260540
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Tremor, Ataxia, Hyperactivity, Spasticity OMIM:300983
X-Linked Charcot-Marie-Tooth Disease Type 3
Gait disturbance, Tremor, Inability to walk, Difficulty walking, Spastic paraparesis, Somatic sen... ORPHA:101077
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Kyphosis, Abnorma... ORPHA:2635
Fragile X Tremor/Ataxia Syndrome
Postural tremor, Dementia, Anxiety, Dysmetria, Bradykinesia, Intention tremor, Impaired tandem ga... OMIM:300623
Late-Infantile/Juvenile Krabbe Disease
Clumsiness, Acroparesthesia, Gait disturbance, Frequent falls, Loss of ambulation, Lower limb spa... ORPHA:206443
Spinocerebellar Ataxia 5
Dysmetria, Cognitive impairment, Intention tremor, Impaired vibratory sensation, Dysdiadochokines... OMIM:600224
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Cdkl5-Deficiency Disorder
Gait disturbance, Abnormal respiratory system physiology, Impaired pain sensation, Kyphosis, Scol... ORPHA:505652
Proteus Syndrome
Kyphoscoliosis, Spinal canal stenosis OMIM:176920
Schwartz-Jampel Syndrome, Type 1
Shoulder flexion contracture, Skeletal muscle atrophy, Hip contracture, Skeletal muscle hypertrop... OMIM:255800
Spinocerebellar Ataxia 21
Postural tremor, Dystonia, Aggressive behavior, Cognitive impairment, Abnormality of extrapyramid... OMIM:607454
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Dementia, Choreoathetosis, Cognitive impairment, Distal sensory impairment, Tremor, Ata... OMIM:208920
Arthrogryposis, Distal, Type 2A
Shoulder flexion contracture, Abnormal auditory evoked potentials, Hip contracture, Flexion contr... OMIM:193700
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Clumsiness, Babinski sign, Ataxia, Impaired vibratory sensation, Limb ataxia, Ga... OMIM:609270
Sialidosis Type 2
Skeletal muscle atrophy, Kyphosis, Ataxia, Flexion contracture, Dyspnea ORPHA:87876
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dystonia, Limb hypertonia, Chorea, Resting tremor, Anxiety OMIM:606703
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Abnormal hip joint morphology, Genu varum, Abnormality of the k... ORPHA:1159
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... OMIM:617114
Cln5 Disease
Clumsiness, Poor gross motor coordination, Dysmetria, Aggressive behavior, Tremor, Ataxia, Hypera... ORPHA:228360
Familial Dyskinesia And Facial Myokymia
Dystonia, Limb hypertonia, Chorea, Myoclonus, Resting tremor, Difficulty walking ORPHA:324588
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Progressive psychomotor deterioration, Poor motor coordination, Dysmetria, Cognitive impairment, ... ORPHA:1170
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Respiratory insufficiency, Congenital diaphragmatic hern... ORPHA:2311
Spinocerebellar Ataxia 27
Postural tremor, Ataxia, Impaired vibratory sensation, Truncal ataxia, Head tremor, Limb ataxia, ... OMIM:609307
Loeys-Dietz Syndrome 3
Hip osteoarthritis, Pneumothorax, Knee osteoarthritis, Intervertebral disc degeneration, Craniosy... OMIM:613795
Uruguay Faciocardiomusculoskeletal Syndrome
Marked muscular hypertrophy, Joint contracture of the hand, Congenital hip dislocation, Kyphosis,... OMIM:300280
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ataxia, Myoclonus, Abnormal pyramidal sign OMIM:612016
Scholte Syndrome
Kyphoscoliosis, Patellar hypoplasia OMIM:300977
Brain Dopamine-Serotonin Vesicular Transport Disease
Gait disturbance, Dystonia, Cognitive impairment, Shuffling gait, Tremor, Ataxia, Hypertonia, Dys... ORPHA:352649
Mental Retardation, Autosomal Dominant 26
Scoliosis, Arthrogryposis multiplex congenita, Small for gestational age, Kyphosis OMIM:615834
Flynn-Aird Syndrome
Cachexia, Skeletal muscle atrophy, Impaired pain sensation, Kyphosis, Ataxia, Scoliosis ORPHA:2047
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Hand tremor, Oromandibular dystonia, Myoclonus, Vocal tremor, Upper limb postural tr... ORPHA:420485
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... OMIM:613135
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Perisylvian polymicrogyria, Kyphosis, Ataxia, Inability to walk, Unsteady gait, Obesity, Scoliosis OMIM:618443
Parkinson Disease 20, Early-Onset
Dystonia, Rigidity, Eyelid apraxia, Shuffling gait, Bradykinesia, Tremor, Mental deterioration, P... OMIM:615530
Autosomal Dominant Spastic Paraplegia Type 9B
Postural tremor, Babinski sign, Dementia, Loss of ambulation, Spastic gait, Spastic dysarthria, P... ORPHA:447757
Saccharopinuria
Cognitive impairment, Tremor, Distal sensory impairment, Spastic diplegia, Mental deterioration, ... ORPHA:3124
Inherited Creutzfeldt-Jakob Disease
Clumsiness, Babinski sign, Dementia, Akinetic mutism, Chorea, Spastic hemiparesis, Myoclonus, Spa... ORPHA:282166
Patterson Pseudoleprechaunism Syndrome
Ovoid thoracolumbar vertebrae, Cervical platyspondyly, Irregular acetabular roof, Kyphoscoliosis,... OMIM:169170
Emanuel Syndrome
Infertility, Failure to thrive, Congenital diaphragmatic hernia, Kyphoscoliosis, Congenital hip d... ORPHA:96170
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormality of the vertebral column, Cervical platyspondyly, Genu varum, Increased intervertebral... ORPHA:93314
Microphthalmia, Syndromic 13
Kyphoscoliosis OMIM:300915
Atelosteogenesis, Type Ii
Flat acetabular roof, Increased intervertebral space, Coronal cleft vertebrae, Horizontal sacrum,... OMIM:256050
Pelizaeus-Merzbacher Disease, Classic Form
Athetosis, Dystonia, Dystonic gait, Cognitive impairment, Abnormality of extrapyramidal motor fun... ORPHA:280219
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Hip dislocation, Scoliosis, Kyphosis OMIM:300434
Contractural Arachnodactyly, Congenital
Distal arthrogryposis, Hip contracture, Congenital finger flexion contractures, Patellar subluxat... OMIM:121050
Mcdonough Syndrome
Diastasis recti, Kyphoscoliosis OMIM:248950
Adult-Onset Cervical Dystonia, Dyt23 Type
Panic attack, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Limb tremor, Focal dystonia... ORPHA:420492
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Limb hypertonia, Impaired pain sensation, Chorea, Kyphosis, Hyperactivity, Inability to... ORPHA:500180
Classic Progressive Supranuclear Palsy Syndrome
Parkinsonism, Dystonia, Gait imbalance, Axial dystonia, Falls, Bradykinesia, Social and occupatio... ORPHA:240071
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Kyphoscoliosis, Platyspondyly, Hip dislocation, Carpal synostosis, Advanced ossification of carpa... OMIM:615349
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Rigidity, Bradykinesia, Tremor, Ataxia OMIM:617836
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Progressive spasticity, Babinski sign, Impaired distal proprioception, Loss of ambula... ORPHA:137898
Encephalopathy, Recurrent, Of Childhood
Athetosis, Babinski sign, Choreoathetosis, Chorea, Intention tremor, Incoordination, Truncal atax... OMIM:130950
Lopes-Maciel-Rodan Syndrome
Dystonia, Bradykinesia, Tremor, Hypertonia, Ankle clonus, Spasticity, Unsteady gait, Abnormal pyr... OMIM:617435
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Gait disturbance, Kyphosis, Ataxia, Prominent metopic ridge, Scoliosis ORPHA:85317
Ataxia With Vitamin E Deficiency
Gait disturbance, Dystonia, Dysmetria, Tremor, Ataxia, Hypertonia, Dysdiadochokinesis, Mental det... ORPHA:96
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Kyphosis, Flexion contracture, Distal amyotrophy, Scoliosis OMIM:609541
Epilepsy, Familial Adult Myoclonic, 2
Dementia, Cognitive impairment, Myoclonus, Tremor, Ataxia, Blepharospasm OMIM:607876
Autosomal Dominant Cerebellar Ataxia
Impaired proprioception, Torticollis, Fasciculations, Paraparesis, Akinesia, Tongue fasciculation... ORPHA:99
Spinocerebellar Ataxia 15
Postural tremor, Truncal ataxia, Action tremor, Limb ataxia, Gait ataxia OMIM:606658
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Skeletal muscle atrophy, Flexion contracture ORPHA:75496
Ane Syndrome
Motor neuron atrophy, Kyphoscoliosis, Hypogonadotropic hypogonadism, Generalized amyotrophy, Mult... ORPHA:157954
Multiple Epiphyseal Dysplasia, Beighton Type
Biconcave vertebral bodies, Abnormal acetabulum morphology, Intervertebral space narrowing, Lumba... ORPHA:166011
Gabriele-De Vries Syndrome
Tremor, Dystonia, Waddling gait OMIM:617557
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Scoliosis, Rib fusion, Hypoplasia of the odontoid process, Vertebral segmentation defec... OMIM:609813
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Hypertonia ORPHA:1368
Crisponi/Cold-Induced Sweating Syndrome 1
Kyphoscoliosis, Facial palsy, Limited elbow extension, Camptodactyly, Dyspnea, Short neck, Elbow ... OMIM:272430
Waisman Syndrome
Dementia, Shuffling gait, Bradykinesia, Cogwheel rigidity, Resting tremor, Parkinsonism OMIM:311510
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Kyphoscoliosis OMIM:122900
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Seckel Syndrome 8
Kyphoscoliosis OMIM:615807
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Bradykinesia, Hemiparesis, Tremor, Parkinsonism, Difficulty walking ORPHA:306669
Autosomal Recessive Spastic Paraplegia Type 23
Hip dislocation, Kyphoscoliosis, Spastic gait, Waddling gait ORPHA:101003
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia OMIM:618951
Basilar Impression, Primary
Short neck, Horner syndrome, Kyphoscoliosis, Limb muscle weakness OMIM:109500
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Babinski sign, Dysmetria, Tremor, Ataxia, Tongue fasciculations OMIM:618170
Perry Syndrome
Dementia, Apathy, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism ORPHA:178509
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Macroglossia, Simplified gyral pattern, Kyphosis, Hypogonadism, Distal lower limb amyotrophy, Hyp... OMIM:300354
Bruck Syndrome 1
Ankle flexion contracture, Hip contracture, Vertebral wedging, Platyspondyly, Knee flexion contra... OMIM:259450
Autosomal Recessive Spastic Paraplegia Type 25
Herniation of intervertebral nuclei, Cervical spondylosis, Abnormality of peripheral nerve conduc... ORPHA:101005
Myofibrillar Myopathy 10
Ankle flexion contracture, EMG: myopathic abnormalities, Knee flexion contracture, Kyphosis, Left... OMIM:619040
X-Linked Parkinsonism-Spasticity Syndrome
Babinski sign, Scissor gait, Bradykinesia, Cogwheel rigidity, Resting tremor, Ankle clonus, Spast... ORPHA:363654
Congenital Contractural Arachnodactyly
Slender build, Arthrogryposis multiplex congenita, Flexion contracture, Camptodactyly of finger, ... ORPHA:115
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Tremor, Truncal ataxia, Gait ataxia OMIM:618587
Anauxetic Dysplasia 2
Macroglossia, Cubitus valgus, Ovoid vertebral bodies, Cervical spine instability, Hyperlordosis, ... OMIM:617396
Masa Syndrome
Shuffling gait, Hyperlordosis, Kyphosis OMIM:303350
Schaaf-Yang Syndrome
Failure to thrive in infancy, Arthrogryposis multiplex congenita, Kyphosis, Hypogonadism, Inabili... OMIM:615547
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Distal sensory impairment, Tremor, Inability to walk, Somatic sensory dysfun... ORPHA:90117
Pelizaeus-Merzbacher Disease
Optic atrophy, Failure to thrive in infancy, Cachexia, Gait disturbance, Dystonia, Respiratory in... ORPHA:702
Geroderma Osteodysplasticum
Biconcave vertebral bodies, Irregular vertebral endplates, Beaking of vertebral bodies, Kyphoscol... OMIM:231070
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Macroglossia, Spinal deformities, Kyphoscoliosis, Patent ductus arteriosus, Ataxia, Broad-based g... ORPHA:397709
Jaberi-Elahi Syndrome
Optic atrophy, Dystonia, Choreoathetosis, Dysmetria, Failure to thrive, Kyphosis, Inability to wa... OMIM:617988
Ck Syndrome
Slender build, Kyphosis, Pachygyria, Hyperactivity, Polymicrogyria, Hyperlordosis, Scoliosis OMIM:300831
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Gait disturbance, Scoliosis, Truncal obesity, Kyphosis ORPHA:2429
Autosomal Recessive Ataxia, Beauce Type
Gait disturbance, Arm dystonia, Skeletal muscle atrophy, Dysmetria, Kyphosis, Ataxia, Impaired vi... ORPHA:88644
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Babinski sign, Gait disturbance, Frequent falls, Dysmetria, Hand tremor, Paraparesis, Distal sens... OMIM:302800
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Stereotypy, Tremor, Hyperactivity, Inability to walk, Spasticity OMIM:618718
Acrootoocular Syndrome
Abnormality of facial musculature, Small for gestational age, Failure to thrive, Kyphoscoliosis, ... ORPHA:2980
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Babinski sign, Clonus, Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar... OMIM:301310
Mcdonough Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis, Cachexia, Kyphosis ORPHA:2471
Sneddon Syndrome
Dementia, Chorea, Hemiparesis, Tremor, Mental deterioration, Memory impairment ORPHA:820
Bruck Syndrome
Respiratory insufficiency, Platyspondyly, Wormian bones, Arthrogryposis multiplex congenita, Kyph... ORPHA:2771
Autism Spectrum Disorder Due To Auts2 Deficiency
Small for gestational age, Arthrogryposis multiplex congenita, Joint contracture of the hand, Kyp... ORPHA:352490
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Hypertonia... OMIM:618877
Kniest Dysplasia
Gait disturbance, Hip contracture, Coronal cleft vertebrae, Platyspondyly, Hip dislocation, Respi... OMIM:156550
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Kyphoscoliosis OMIM:300886
Wieacker-Wolff Syndrome
Dystonia, Neonatal respiratory distress, Apnea, Facial palsy, Arthrogryposis multiplex congenita,... OMIM:314580
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Schmorl's node, Irregular vertebral endplates, Intervertebral disk calci... OMIM:614135
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dystonia, Torticollis, Kyphoscoliosis, Optic nerve hypoplasia, Cubitus valgus, Simplified gyral p... ORPHA:300570
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysmetria, Tremor, Ataxia, Inability to walk, Dysdiadochokinesis, Abnormal pyramidal sign, Gait a... OMIM:614831
Familial Calcium Pyrophosphate Deposition
Abnormal intervertebral disk morphology, Chondrocalcinosis, Joint dislocation, Arthritis, Calcifi... ORPHA:1416
Arthrogryposis Multiplex Congenita 5
Dystonia, Optic disc pallor, Neonatal respiratory distress, Kyphoscoliosis, Arthrogryposis multip... OMIM:618947
Perry Syndrome
Dystonia, Rigidity, Suicidal ideation, Apathy, Bradykinesia, Tremor, Short stepped shuffling gait... OMIM:168605
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Dementia, Rigidity, Progressive neurologic deterioration, Tremor, Hypertonia, Spasticity OMIM:176500
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Steppage gait, Inability to walk, Kyphoscoliosis, Contractures of the large joints ORPHA:324410
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Tremor, Broad-based gait, Spastic paraplegia, Difficulty walking ORPHA:477673
Mitochondrial Membrane Protein-Associated Neurodegeneration
Babinski sign, Gait disturbance, Dystonia, Rigidity, Frequent falls, Hand tremor, Shuffling gait,... ORPHA:289560
Dystonia 7, Torsion
Clumsiness, Writer's cramp, Torticollis, Hand tremor, Oromandibular dystonia, Torsion dystonia, B... OMIM:602124
Spinocerebellar Ataxia, Autosomal Recessive 30
Dysmetria, Tremor, Ataxia, Unsteady gait, Titubation OMIM:619405
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Blepharospasm, Torticollis, Torsion dystonia OMIM:224500
Spinocerebellar Ataxia 2
Postural tremor, Dementia, Rigidity, Dysmetria, Myoclonus, Bradykinesia, Fasciculations, Progress... OMIM:183090
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Kyphoscoliosis OMIM:600991
Classic Phenylketonuria
Self-injurious behavior, Paraplegia, Tremor, Hypertonia, Hemiplegia, Mental deterioration, Motor ... ORPHA:79254
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Kyphoscoliosis, Scoliosis, Premature ovarian insufficiency ORPHA:391307
Joint Laxity, Short Stature, And Myopia
Short neck, Restrictive ventilatory defect, Kyphoscoliosis OMIM:617662
X-Linked Intellectual Disability, Hedera Type
Babinski sign, Gait disturbance, Frequent falls, Dysmetria, Extrapyramidal muscular rigidity, Ina... ORPHA:93952
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Kyphosis, Ataxia, Hip dislocation, Waddling gait, Unsteady gait, Obesity, Scoliosis, Di... ORPHA:464282
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Myoclonus, Tremor, Progressive cerebellar ataxia, Abnormal pyramidal si