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Gene: Mybpc1 MGI:1336213

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
myosin binding protein C, slow-type
Synonyms:
8030451F13Rik,  Slow-type C-protein

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Mybpc1 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 Mybpc1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Myopathy 16
Tongue tremor, Lumbar hyperlordosis, Postural tremor, Scapular winging, Flexion contracture, Scol... OMIM:618524
Lethal Congenital Contracture Syndrome 4
Distal arthrogryposis, Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture OMIM:614915
Arthrogryposis, Distal, Type 1B
Joint contracture of the hand, Foot joint contracture, Distal arthrogryposis, Camptodactyly, Arth... OMIM:614335
Distal Arthrogryposis Type 1
Camptodactyly of finger ORPHA:1146

The table below shows human diseases predicted to be associated to Mybpc1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity OMIM:619491
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Spastic Paraplegia 18B, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weakness, Ankle clonus, Babinski s... OMIM:611225
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait ORPHA:401840
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Tremor, Hereditary Essential, 6
Kinetic tremor, Postural tremor, Head tremor, Vocal tremor OMIM:618866
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor OMIM:611092
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Distal amyotrophy, Fasciculations, Tremor, Spinal muscular atrophy, Proximal amyotrophy OMIM:182980
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Fiber type grouping, Distal amyotrophy, Tremor OMIM:614369
Episodic Kinesigenic Dyskinesia 2
Dystonia, Involuntary movements, Paroxysmal dyskinesia, Chorea OMIM:611031
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Skeletal muscle atrophy, Tremor, Babinski sign, Ataxia, Flexion contracture OMIM:611105
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
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Spasticity, Upper limb muscle weakness, Fasciculations, ... ORPHA:309169
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations, Proximal amyotrophy, Spinal muscular atrophy, Kyphoscoliosis OMIM:271200
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal amyotrophy, Arthrogryposis multiplex congenita, Elbow flexion contracture, Nonprogressive ... OMIM:600175
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... OMIM:614561
Spinocerebellar Ataxia 43
Distal amyotrophy, Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia OMIM:617018
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Scoliosis, Tremor, Ataxia OMIM:213000
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Episodic Kinesigenic Dyskinesia 3
Dystonia, Involuntary movements, Choreoathetosis, Torticollis OMIM:620245
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Fasciculations, Tremor, Spinal muscular atrophy, Calf muscle hypertrophy OMIM:615048
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Distal upper limb amyotrophy, Tremor, Ataxia, Scoliosis, Kyphosis ORPHA:101075
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Ataxia, Distal amyotrophy, Tremor, Kyphoscoliosis OMIM:619099
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Spinocerebellar Ataxia 40
Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In... OMIM:616053
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Tremor ORPHA:217012
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus OMIM:616921
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ankle flexion c... OMIM:616668
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia OMIM:615945
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Hemiballismus, Tremor ORPHA:494526
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis, Flexion contracture OMIM:168400
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Tremor, Ataxia, Scoliosis, Kyphosis ORPHA:101078
Spinal Muscular Atrophy, Type Iii
Shoulder girdle muscle atrophy, Tongue fasciculations, Distal amyotrophy, Lower limb muscle weakn... OMIM:253400
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Dystonia 24
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia OMIM:615034
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Distal amyotrophy, Lower limb muscle weakness, Fasciculations, Myoclonus, Gait ataxia... OMIM:607317
X-Linked Charcot-Marie-Tooth Disease Type 3
Proximal muscle weakness in lower limbs, Distal amyotrophy, Spastic paraparesis, Hand muscle weak... ORPHA:101077
Dystonia 23
Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Torticollis, Writer's cramp OMIM:614860
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Limb dystonia, Tremor, Torticollis, T... ORPHA:99657
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Limb muscle weakness, Tremor, Dysmetria, Babinski sign, Progressive gait... OMIM:607458
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Multiple joint contractures, Tremor, Ankle clonus, Dystonia, Babinski sign, Parkinson... ORPHA:521406
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Death in childhood, Tremor OMIM:619651
Parkinson Disease 17
Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Myopathy, Scapular winging, Flexion contracture, ... OMIM:616471
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Proximal muscle weakness in lower limbs, Lower limb muscle weakness, Fasciculations, Hip contract... OMIM:615290
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Progressive spastic paraplegia, Knee flexion contracture... ORPHA:496689
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Distal amyotrophy, Vocal cord paralysis, Tremor OMIM:158580
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Foot dorsiflexor weakness, Scoliosis, Lower limb amyotrophy, Upper limb amyotrophy OMIM:617087
Congenital Myopathy 16
Tongue tremor, Lumbar hyperlordosis, Postural tremor, Scapular winging, Flexion contracture, Scol... OMIM:618524
Dystonia 16
Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Bradykinesia ORPHA:210571
Spinocerebellar Ataxia 38
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia OMIM:615957
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or... ORPHA:420485
Myasthenic Syndrome, Congenital, 25, Presynaptic
Generalized amyotrophy, Myopathy, Flexion contracture, Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Distal amyotrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babi... OMIM:611302
Spinocerebellar Ataxia Type 38
Gait ataxia, Tremor ORPHA:423296
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Lower limb muscle weakness, Hand tremor, Head tremor, Limb muscle weakness, L... OMIM:614409
Epilepsy, Progressive Myoclonic 7
Myoclonus, Tremor, Ataxia OMIM:616187
Roussy-Lévy Syndrome
Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Frequent falls, Postural ... ORPHA:3115
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia OMIM:605909
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Spinocerebellar Ataxia Type 28
Spasticity, Head tremor, Limb ataxia, Limb dystonia, Gait ataxia, Rigidity, Dystonia, Babinski si... ORPHA:101109
Spinocerebellar Ataxia 12
Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokinesis, Progress... OMIM:604326
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Ataxia, Scoliosis, Kyphosis, Skeletal muscle hypertrophy ORPHA:99014
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Spasticity, Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor weakness, Tremor, Babinski ... OMIM:609260
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Progressive distal muscular atrophy, Tongue fasciculations, Skeletal muscle atrophy, Frequent fal... OMIM:159950
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... OMIM:605355
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Generalized amyotrophy, Increased endomysial conn... ORPHA:75840
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Type 1 muscle fi... OMIM:609285
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... ORPHA:98762
Dystonia 7, Torsion
Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu... OMIM:602124
Migraine, Familial Hemiplegic, 1
Ataxia, Hemiplegia, Tremor, Hemiparesis OMIM:141500
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... ORPHA:79262
Pyknoachondrogenesis
Stillbirth OMIM:265880
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... ORPHA:454887
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl... ORPHA:314632
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Torsion dystonia, Tremor, Torticollis OMIM:224500
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Proximal amyotrophy, Lower limb spasticity, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity OMIM:617404
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia OMIM:615768
Intellectual Disability-Developmental Delay-Contractures Syndrome
Distal amyotrophy, Kyphosis, Oculomotor apraxia, Scoliosis, Congenital foot contractures ORPHA:3454
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Truncal ataxia, Nonprogressive cerebellar ataxia, Spastic dysarthria, ... ORPHA:314978
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia OMIM:615924
Spinal Muscular Atrophy, Type Ii
Hand tremor, Tongue fasciculations, Skeletal muscle atrophy, Spinal muscular atrophy OMIM:253550
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ... ORPHA:216873
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Leg muscle stiffness, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Low... ORPHA:251282
Dystonia 28, Childhood-Onset
Spasticity, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dystonia, Torticolli... OMIM:617284
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Facial myokymia, Limb hypertonia, Campt... OMIM:606703
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, Muscular dystrophy, Macroglossia, Skeletal muscle atrophy, Should... OMIM:606612
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:620482
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Myoclonus, Tremor OMIM:615400
Dystonia 12
Bradykinesia, Tremor, Parkinsonism, Torticollis, Dystonia OMIM:128235
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Distal amyotrophy, Gait ataxia, Action tremor, Kyphoscoliosis OMIM:180800
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Increased variability in muscle fiber diameter, Postural tremor, Tremor, Weaknes... OMIM:619790
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Generalized dystonia, Multiple joint contractures, Tremor, Babinski sign, Hyperlor... OMIM:128100
Amish Nemaline Myopathy
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Tremor, Proximal... ORPHA:98902
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Spastic Paraplegia 53, Autosomal Recessive
Spastic paraplegia, Upper limb hypertonia, Clonus, Dystonia, Kyphosis, Lower limb hypertonia OMIM:614898
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Fasciculations, Facial diplegia, Foot dorsiflexor weakness... ORPHA:329478
Monomelic Amyotrophy
Distal upper limb amyotrophy, Tremor, Fasciculations ORPHA:65684
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Myopathy, Neonatal death, Dystonia, Flexion contracture, Spastic tetraplegia OMIM:618237
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Spinocerebellar Ataxia Type 37
Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Truncal ataxia, Dysdiadochokinesis ORPHA:363710
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Invol... ORPHA:401768
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Bradyk... OMIM:213600
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... ORPHA:40
Urocanase Deficiency
Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia OMIM:276880
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Lower limb muscle weakness, Tremor, Babinski sign, Lower limb spasticity, Clo... OMIM:600363
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi... ORPHA:240103
Spinocerebellar Ataxia Type 14
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cerebellar ataxia ORPHA:98763
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Skeletal muscle atrophy, Myoclonus, Ataxia, Anterior beaking of lumbar vertebrae, ... OMIM:230650
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor weakness, Dysmetria, Gait ataxia, Tremo... OMIM:618387
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Lethal Congenital Contracture Syndrome 4
Distal arthrogryposis, Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture OMIM:614915
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Neonatal death, Short neck, Camptodactyly, Arthrogryposis multiplex cong... OMIM:618393
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis OMIM:261630
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Muscle fiber splitting, Scapular mu... OMIM:181405
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Chorea, Intention tremor, Dysmetria, Abnormality of the cervical spine, Abnormal pyramida... ORPHA:48431
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Limb dystonia, Gait ataxia, Parkinsonism, Craniofacial dystonia, Torticollis, Bra... ORPHA:71517
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Tongue fasciculations, Kyphosis, Facial myokymia, Ataxia OMIM:620007
Autosomal Recessive Spastic Paraplegia Type 53
Clonus, Limb dystonia, Kyphosis, Upper limb hypertonia ORPHA:319199
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Ataxia OMIM:617917
Spinocerebellar Ataxia 48
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia, Dystonia OMIM:618093
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Muscular dystrophy, Kyphoscoliosis, Distal lower limb muscle... ORPHA:459033
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Kyphosis OMIM:618453
Parkinson Disease 21
Parkinsonism, Bradykinesia, Tremor, Rigidity OMIM:616361
Atypical Juvenile Parkinsonism
Involuntary movements, Resting tremor, Leg muscle stiffness, Myoclonus, Gait ataxia, Rigidity, Dy... ORPHA:391411
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... OMIM:609813
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia ORPHA:324588
Immunoneurologic Disorder, X-Linked
Spastic paraplegia, Neonatal death OMIM:300076
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol... OMIM:271530
Lethal Congenital Contracture Syndrome 8
Vocal cord paralysis, Death in infancy, Neonatal death OMIM:616287
Spinocerebellar Ataxia 50
Chorea, Head tremor, Myoclonus, Action tremor, Postural tremor, Apraxia, Ataxia OMIM:620158
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance, Myoclonus, Tremor, Dysmetria, Lower limb spasticity, Ataxia OMIM:619028
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Spastic paraplegia, Distal amyotrophy, Ankle clonus, Babinski sign, Exaggerated startle response,... OMIM:609541
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia OMIM:615362
Spinocerebellar Ataxia 23
Limb ataxia, Gait ataxia, Tremor, Dysmetria, Babinski sign OMIM:610245
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Skeletal muscle atrophy, Tremor, Dystonia, Scoliosis ORPHA:330050
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ... OMIM:612067
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Tremor OMIM:613608
Spinocerebellar Ataxia 7
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... OMIM:164500
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... ORPHA:363654
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Facial diplegia, Neonatal death, Sho... OMIM:611890
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ataxia, Tremor, Rig... OMIM:600116
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Vocal cord paresis, Fasciculations, Foot dorsiflexor ... OMIM:619574
Fibrosis Of Extraocular Muscles, Congenital, 3C
Congenital fibrosis of extraocular muscles, Kyphosis OMIM:609384
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Macroglossia, Muscular dystrophy, Shoulder girdle muscle weakness, Frequent falls, Calf muscle hy... OMIM:607155
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Increased endomysial connective tissue, Arthrogryposis multiplex congenita, Sh... ORPHA:178148
Autosomal Spastic Paraplegia Type 58
Spasticity, Distal amyotrophy, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Ti... ORPHA:397946
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Lower limb muscle weakness, Frequent falls, Myoclonus, Tremor, Clumsiness, Eyelid... ORPHA:2590
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Skeletal muscle atrophy, Resting tremor, Incoordination, Limb fasciculations... OMIM:615157
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Short neck, Sp... ORPHA:98863
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Lower limb spasticity, Ataxia, Dystonia, Scoliosis, Kyphosis OMIM:616756
Parkinsonism With Polyneuropathy
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:619279
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Scoliosis, Tremor, Ataxia OMIM:616421
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Kyphosis, Myopathy, Generalized limb muscle atrophy ORPHA:2598
X-Linked Dystonia-Parkinsonism
Blepharospasm, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand tremor, Torsion... ORPHA:53351
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Bradykinesia, Resting tremor, Rigidity OMIM:614251
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,... OMIM:606159
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Gait ataxia, Intention tremor, Dysmetria, Thoracic scoliosis, Tremor, Ataxia, Truncal ataxia, Dys... OMIM:610185
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Spastic gait, Resting tremor, Bradykinesia, Tremor, Kyph... OMIM:300055
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia,... OMIM:617145
Parkinson-Dementia Syndrome
Tremor, Rigidity, Kyphoscoliosis, Parkinsonism, Abnormal pyramidal sign OMIM:260540
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia OMIM:617836
Lopes-Maciel-Rodan Syndrome
Spasticity, Tremor, Ankle clonus, Dystonia, Abnormal pyramidal sign, Hypertonia, Bradykinesia, Sc... OMIM:617435
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98855
Masa Syndrome
Spastic paraplegia, Paraplegia, Lower limb spasticity, Hyperlordosis, Kyphosis OMIM:303350
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia OMIM:619738
Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98853
Developmental And Epileptic Encephalopathy 32
Myoclonus, Tremor, Ataxia OMIM:616366
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, Hype... ORPHA:96
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Spasticity, Skeletal muscle atrophy,... OMIM:248800
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, EMG: myopathic abnormalities, Hyperlordosis, Scapular... OMIM:255200
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia OMIM:618587
Charcot-Marie-Tooth Disease And Deafness
Distal amyotrophy, Thenar muscle weakness, Limb muscle weakness, Foot dorsiflexor weakness, Tremo... OMIM:118300
Charcot-Marie-Tooth Disease, Type 4K
Ataxia, Dystonia, Skeletal muscle atrophy, Kyphoscoliosis OMIM:616684
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Hemiparesis, Dystonia, Parkinsonism, Bradykinesia, Scoliosis ORPHA:306669
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Tremor, Ataxia ORPHA:1368
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Brad... ORPHA:240085
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont... ORPHA:536516
Spinocerebellar Ataxia, Autosomal Recessive 8
Spasticity, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramidal motor function, Sc... OMIM:610743
Cerebral Creatine Deficiency Syndrome 2
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... OMIM:612736
Ichthyosis, Congenital, Autosomal Recessive 4B
Rigidity, Death in infancy, Neonatal death OMIM:242500
Epilepsy, Progressive Myoclonic, 6
Myoclonus, Scoliosis, Tremor, Ataxia OMIM:614018
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Muscular dystrophy, Generalized amyotrophy, Type ... OMIM:254090
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Hypomimic face, Dysdia... OMIM:618049
Autosomal Recessive Ataxia, Beauce Type
Spasticity, Arm dystonia, Skeletal muscle atrophy, Lower limb muscle weakness, Fasciculations, Dy... ORPHA:88644
Hypermanganesemia With Dystonia 2
Spasticity, Generalized dystonia, Limb dystonia, Tremor, Ankle clonus, Dystonia, Opisthotonus, Pa... OMIM:617013
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia OMIM:278780
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death OMIM:301021
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Hand tremor, Hand muscle weakness, Incoordination, Distal lower limb amyotrophy, Distal upper lim... OMIM:302800
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Macroglossia, Skeletal muscle atrophy, Kyphosis OMIM:151800
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia OMIM:213200
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Spasticity, Chorea, Gait ataxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal... ORPHA:500180
Urocanic Aciduria
Truncal ataxia, Gait ataxia, Action tremor, Ataxia ORPHA:210128
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ataxia, Tremor, Weakness of facial musculature OMIM:618637
Leukodystrophy, Hypomyelinating, 11
Spasticity, Myoclonus, Tremor, Ataxia OMIM:616494
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Skeletal muscle atrophy, Limb ataxia, Gait ataxia, Tremor, Frequent falls OMIM:616719
Mitochondrial Dna Depletion Syndrome 11
Spinal rigidity, Generalized amyotrophy, Ragged-red muscle fibers, Proximal amyotrophy, Facial pa... OMIM:615084
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia ORPHA:139485
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Kyphoscoliosis, Flexion contr... OMIM:616470
Coenzyme Q10 Deficiency, Primary, 4
Myoclonus, Tremor, Decreased level of coenzyme Q10 in skeletal muscle, Abnormal pyramidal sign, I... OMIM:612016
Neurodegeneration With Brain Iron Accumulation 7
Tremor, Dysmetria, Lower limb spasticity, Ataxia, Dystonia OMIM:617916
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Tremor, Ataxia OMIM:617831
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia ORPHA:329284
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Kyphoscoliosis, Rigidity... ORPHA:99750
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Upper limb muscle weakness, Lower limb muscle weakness, Fasciculations, Tremor, Proximal amyotrop... ORPHA:209335
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Calf muscle hypertrophy, Limb muscle weakness, Tremor, Fasciculations OMIM:313200
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia, Parkinsonism, Head... OMIM:618877
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Distal amyotrophy, Chorea, Limb ataxia, Gait ataxia, Tremor, Oculomotor apraxia, Ataxia, Truncal ... OMIM:208920
Sialidosis Type 2
Skeletal muscle atrophy, Tremor, Ataxia, Flexion contracture, Kyphosis ORPHA:87876
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Ataxia, Bradykinesi... OMIM:619725
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Clumsiness, Myoclonic spasms, Ataxia, Dystonia,... ORPHA:79263
Spinocerebellar Ataxia With Epilepsy
Myoclonus, Gait ataxia, Dysmetria, Myopathy, Tremor, Dystonia, Dysdiadochokinesis, Progressive ce... ORPHA:254881
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Bradykinesia, Postural tremor, Rigidity, Clumsiness, Parkinsonism, Dystonia OMIM:619911
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Distal amyotrophy, Myoclonus, Gait ataxia, Dysmetria, Tremor, Babinski sign, Hypertonia, Ataxia, ... OMIM:616505
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, Chor... OMIM:261640
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Rigidity, Dystonia, Limb hypertonia, Hypomimic face, B... ORPHA:70594
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... ORPHA:171436
Primary Dystonia, Dyt4 Type
Blepharospasm, Upper limb postural tremor, Involuntary movements, Generalized dystonia, Laryngeal... ORPHA:98805
Atypical Rett Syndrome
Involuntary movements, Spasticity, Pill-rolling tremor, Limb myoclonus, Hand apraxia, Gait ataxia... ORPHA:3095
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, EMG: myopathic abnormalities, Knee flexion ... OMIM:619040
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Distal amyotrophy, Tremor OMIM:607734
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Tremor, Ataxia OMIM:612126
Leukodystrophy, Hypomyelinating, 6
Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis OMIM:612438
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Axial d... OMIM:612953
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonis... OMIM:606693
Sandhoff Disease
Kyphosis, Ataxia ORPHA:796
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal rigidity, Generalized amyotrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial m... ORPHA:352447
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis OMIM:300434
Adult-Onset Cervical Dystonia, Dyt23 Type
Head tremor, Myoclonus, Axial dystonia, Craniofacial dystonia, Limb tremor, Torticollis, Writer's... ORPHA:420492
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis ORPHA:85288
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Hip contracture, Knee flexion contracture, Thoracolumbar scoliosis, Kyphosis OMIM:313420
O'Sullivan-Mcleod Syndrome
Upper limb muscle weakness, Fasciculations, Hand muscle weakness, Tremor, Intrinsic hand muscle a... ORPHA:99965
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Postural tremor, Death in early adulthood, Dysmetria, Tremor, Babinski sign, Ataxia, ... OMIM:607694
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Foot dorsiflexor weakness, Scoliosis, Kyphosis, Ataxia OMIM:618124
Spinocerebellar Ataxia Type 21
Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressive cerebell... ORPHA:98773
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Myopathy, Tremor, Fat... ORPHA:397744
Developmental And Epileptic Encephalopathy 42
Tremor, Hypertonia, Ataxia, Flexion contracture, Athetosis OMIM:617106
Combined Oxidative Phosphorylation Deficiency 21
Limb hypertonia, Neonatal death OMIM:615918
Behr Syndrome
Frequent falls, Hamstring contractures, Dysmetria, Tremor, Babinski sign, Achilles tendon contrac... OMIM:210000
Winchester Syndrome
Kyphosis OMIM:277950
Postencephalitic Parkinsonism
Involuntary movements, Oculogyric crisis, Resting tremor, Cogwheel rigidity, Rigidity, Babinski s... ORPHA:97349
Autism Spectrum Disorder Due To Auts2 Deficiency
Joint contracture of the hand, Spasticity, Congenital contracture, Arthrogryposis multiplex conge... ORPHA:352490
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Muscular dystrophy, Kyphosis ORPHA:1875
Congenital Myopathy 22A, Classic
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620351
Spinocerebellar Ataxia, Autosomal Recessive 13
Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdiadochokinesis OMIM:614831
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ... ORPHA:101
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Death in infancy, Neonatal death OMIM:617184
Spinocerebellar Ataxia 2
Spasticity, Distal amyotrophy, Fasciculations, Postural tremor, Limb ataxia, Myoclonus, Action tr... OMIM:183090
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Death in childhood, Death in infancy, Neonatal death OMIM:620265
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Tremor, Hemiparesis, Ataxia, Intention tremor OMIM:614307
Glutathionuria
Dysdiadochokinesis, Action tremor, Tremor OMIM:231950
Stuve-Wiedemann Syndrome 2
Neonatal death, Death in adolescence, Stillbirth OMIM:619751
Brain Dopamine-Serotonin Vesicular Transport Disease
Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, Parkinsonism, Hy... ORPHA:352649
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Spasticity, Scoliosis, Kyphosis ORPHA:2429
Peroxisome Biogenesis Disorder 5B
Death in childhood, Tremor, Dysmetria, Oculomotor apraxia, Ataxia OMIM:614867
Spinocerebellar Ataxia 8
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia OMIM:608768
Spinocerebellar Ataxia 42
Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait OMIM:616795
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Kyphosis, Myopathy OMIM:618234
Wieacker-Wolff Syndrome
Spasticity, Distal amyotrophy, Arthrogryposis multiplex congenita, Congenital foot contractures, ... OMIM:314580
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive cerebellar ataxia, Leg muscle stiffness, Generalized limb muscle atrophy, Tremor, Bab... ORPHA:137898
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia ORPHA:1170
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Spasticity, Skeletal muscle atrophy, Pseudobulbar paralysis, Foot dorsiflexor... OMIM:616586
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death OMIM:619602
Sialidosis Type 1
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Myoclonus, Tremor, Ataxia, Scolio... ORPHA:812
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Kyphosis, Ataxia ORPHA:85317
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Hypertonia, Tremor, Rigidity OMIM:176500
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Chorea, Cogwheel rigidity, Action tremor, Gait ataxia, Rigidity... OMIM:607483
Cystathioninuria
Tremor ORPHA:212
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death OMIM:615228
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal canal stenosis OMIM:301900
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis ORPHA:276630
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Tetraparesis, Limb dystonia, Myoclonus, Myopathy, Gait ataxi... ORPHA:363400
Intellectual Developmental Disorder, Autosomal Dominant 26
Cerebral palsy, Hypertonia, Scoliosis, Arthrogryposis multiplex congenita, Kyphosis OMIM:615834
Mohr-Tranebjaerg Syndrome
Dystonia, Intrinsic hand muscle atrophy, Spasticity, Tremor OMIM:304700
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi... OMIM:607060
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Skeletal muscle atrophy, Hand muscle atrophy, Ankle clonus, Clumsiness, Vo... OMIM:211530
Perry Syndrome
Parkinsonism, Tremor, Abnormality of extrapyramidal motor function ORPHA:178509
Sjögren-Larsson Syndrome
Spasticity, Abnormal pyramidal sign, Scoliosis, Kyphosis, Spastic diplegia ORPHA:816
Rett Syndrome
Spasticity, Skeletal muscle atrophy, Gait ataxia, Gait apraxia, Truncal ataxia, Dystonia, Scolios... OMIM:312750
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death OMIM:612138
Combined Oxidative Phosphorylation Deficiency 8
Death in childhood, Death in infancy, Neonatal death OMIM:614096
Gerstmann-Straussler Disease
Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Apraxia, Truncal... OMIM:137440
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Titubation, Dysmetria, Ataxia OMIM:619405
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal motor function, Pa... OMIM:613280
Zimmermann-Laband Syndrome 3
Flexion contracture, Kyphosis OMIM:618658
Arthrogryposis, Distal, Type 5
Firm muscles, Decreased muscle mass, Distal arthrogryposis, Hypertonia, Congenital finger flexion... OMIM:108145
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Kyphosis, Ataxia OMIM:300861
Spinocerebellar Ataxia Type 27
Hand tremor, Limb ataxia, Gait ataxia, Tremor, Truncal ataxia ORPHA:98764
Bruck Syndrome 1
Platyspondyly, Ankle flexion contracture, Vertebral wedging, Elbow flexion contracture, Hip contr... OMIM:259450
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Progressive spastic paraplegia, Lower limb spasticity, Ataxia, Dystonia, Scoliosis, K... ORPHA:464282
Combined Oxidative Phosphorylation Deficiency 32
Spasticity, Tremor, Kyphoscoliosis, Joint contracture, Dystonia, Choreoathetosis OMIM:617664
Metatropic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Camptodactyly of finger, A... ORPHA:2635
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Spasticity, Death in infancy, Neonatal death OMIM:613730
Cdkl5-Deficiency Disorder
Scoliosis, Kyphosis ORPHA:505652
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Ataxia, Dystonia, Atheto... OMIM:617710
Crisponi Syndrome
Camptodactyly of finger, Hypertonia, Flexion contracture, Scoliosis, Kyphosis ORPHA:1545
Metatropic Dysplasia
Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Arthrogryposi... OMIM:156530
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Tremor, Kyphoscoliosis, Parkinsonism, Lower limb spasticity ORPHA:3077
Flynn-Aird Syndrome
Ataxia, Scoliosis, Kyphosis, Skeletal muscle atrophy ORPHA:2047
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Dystonia, Choreoathetosis OMIM:233910
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia ORPHA:542310
Baralle-Macken Syndrome
Dystonia, Spasticity, Kyphosis OMIM:619255
Arthrogryposis, Distal, Type 4
Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis, Torticollis, Camptodac... OMIM:609128
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis OMIM:618392
Mcdonough Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis, Kyphosis ORPHA:2471
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia OMIM:300894
Hemifacial Atrophy, Progressive
Kyphosis, Ataxia OMIM:141300
Pelizaeus-Merzbacher Disease
Spastic paraplegia, Generalized dystonia, Intention tremor, Tremor, Progressive spastic quadriple... OMIM:312080
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Eyelid myoclonus OMIM:618060
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Progressive extrapyramidal muscular rigidity, Axial dystonia, Tremor, Dystonia, Pa... ORPHA:240071
Ceroid Lipofuscinosis, Neuronal, 10
Ataxia, Spasticity, Rigidity, Neonatal death OMIM:610127
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Myoclonus, Tremor, Ataxia OMIM:607876
Developmental Malformations-Deafness-Dystonia Syndrome
Macroglossia, Scoliosis, Kyphosis, Generalized dystonia ORPHA:79107
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Gait ataxia, Tremor, Macroglossia, Kyphosis OMIM:300354
Weismann-Netter Syndrome
Scoliosis, Horizontal sacrum, Kyphosis OMIM:112350
Kleefstra Syndrome 2
Scoliosis, Kyphosis OMIM:617768
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Waisman Syndrome
Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favorable response t... OMIM:311510
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Kyphosis ORPHA:1548
Zimmermann-Laband Syndrome 2
Macroglossia, Short neck, Kyphosis OMIM:616455
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Distal amyotrophy, Chorea, Head tremor, Gait ataxia, Limb ataxia, Tremor, Progressive gait ataxia... OMIM:606002
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Skeletal muscle atrophy, Dysmetria OMIM:615578
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Uruguay Faciocardiomusculoskeletal Syndrome
Joint contracture of the hand, Kyphoscoliosis, Camptodactyly of toe, Left ventricular hypertrophy... OMIM:300280
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Limb ataxia, Dysmetria, Tremor... OMIM:617675
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Microcephalic Primordial Dwarfism, Montreal Type
Scoliosis, Kyphosis, Hypertonia, Vertebral segmentation defect ORPHA:2617
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Contracture of the proximal interphalangeal joint of the 2nd finger, Contracture of the proximal ... OMIM:130060
Cardiomyopathy, Dilated, 2H
Neonatal death OMIM:620203
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Multiple joint contractures, Spina b... OMIM:618291
Wieacker-Wolff Syndrome, Female-Restricted
Spasticity, Hip contracture, Weakness of facial musculature, Short neck, Oculomotor apraxia, Achi... OMIM:301041
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal muscle weakness in lower limbs, Joint contracture of the hand, Spinal muscular atrophy, ... ORPHA:466768
Hall-Riggs Syndrome
Platyspondyly, Scoliosis, Kyphosis, Irregular vertebral endplates OMIM:234250
Becker Nevus Syndrome
Spina bifida occulta, Scoliosis, Kyphosis, Shoulder girdle muscle atrophy ORPHA:64755
Myasthenic Syndrome, Congenital, 20, Presynaptic
Scoliosis, Skeletal muscle atrophy, Facial palsy, Arthrogryposis multiplex congenita, Kyphosis OMIM:617143
Bruck Syndrome
Platyspondyly, Arthrogryposis multiplex congenita, Scoliosis, Kyphosis ORPHA:2771
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Distal amyotrophy, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor ... OMIM:614298
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death OMIM:601612
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:99956
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hemiplegia, Scoliosis, Kyphosis ORPHA:2181
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dy... OMIM:614381
Arthrogryposis Multiplex Congenita 6
Death in childhood, Death in infancy, Neonatal death OMIM:619334
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Scoliosis, Hyperlordosis, Sacral dimple OMIM:615761
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... OMIM:313400
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Kyphosis ORPHA:1858
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Increased muscle glycogen content, Dysdiadochokin... ORPHA:502423
Parkinson Disease 23, Autosomal Recessive Early-Onset
Spasticity, Resting tremor, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign OMIM:616840
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Gait ataxia, Flexion contracture of finger, Ataxia, Camptodactyly, Scoliosis,... ORPHA:88628
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Joint contracture of the 5th finger, Scoliosis, Kyphosis, Camptodactyly of finger ORPHA:1883
Parkinson Disease, Late-Onset
Resting tremor, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia OMIM:168600
4Q21 Microdeletion Syndrome
Short neck, Scoliosis, Kyphosis, Tremor ORPHA:238750
Migraine, Familial Hemiplegic, 2
Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia OMIM:602481
Multiple Mitochondrial Dysfunctions Syndrome 1
Facial paralysis, Myoclonus, Death in infancy, Neonatal death, Abnormality of extrapyramidal moto... OMIM:605711
Pelizaeus-Merzbacher Disease
Spasticity, Ataxia, Dystonia, Scoliosis, Kyphosis, Choreoathetosis ORPHA:702
Tay-Sachs Disease
Skeletal muscle atrophy, Decerebrate rigidity, Hip flexor weakness, Lower limb muscle weakness, I... ORPHA:845
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Bradykinesia, Myoclonus, Tremor, Rigidi... ORPHA:199351
Autosomal Recessive Spastic Paraplegia Type 35
Spastic paraplegia, Dysdiadochokinesis, Generalized dystonia, Foot dorsiflexor weakness, Dysmetri... ORPHA:171629
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Scoliosis, Kyphosis OMIM:259440
Mucolipidosis Iii Gamma
Claw hand deformity, Short neck, Hyperlordosis, Finger joint contracture, Shoulder contracture, S... OMIM:252605
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Abnormality of the vertebra... ORPHA:93314
Gm1 Gangliosidosis
Platyspondyly, Spasticity, Abnormal form of the vertebral bodies, Generalized dystonia, Camptodac... ORPHA:354
Fetal Gaucher Disease
Hypertonia, Stillbirth, Death in infancy, Neonatal death ORPHA:85212
X-Linked Intellectual Disability Due To Gria3 Mutations
Spasticity, Myoclonus, Babinski sign, Facial hypotonia, Abnormality of muscle size, Scoliosis, Ky... ORPHA:364028
Alpha-Mannosidosis
Macroglossia, Short neck, Scoliosis, Kyphosis ORPHA:61
Autosomal Recessive Spondylocostal Dysostosis
Abnormal form of the vertebral bodies, Camptodactyly of finger, Congenital diaphragmatic hernia, ... ORPHA:2311
Fucosidosis
Spasticity, Spastic tetraplegia, Decreased muscle mass, Abnormal pyramidal sign, Anterior beaking... ORPHA:349
Jaberi-Elahi Syndrome
Gait ataxia, Dysmetria, Appendicular spasticity, Tremor, Dystonia, Scoliosis, Kyphosis, Choreoath... OMIM:617988
Pontocerebellar Hypoplasia, Type 17
Spastic tetraplegia, Limb hypertonia, Kyphosis, Paroxysmal dystonia OMIM:619909
Parkinson Disease 20, Early-Onset
Involuntary movements, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia, Eyelid apraxia OMIM:615530
Hypomelanosis Of Ito
Scoliosis, Kyphosis OMIM:300337
Aceruloplasminemia
Blepharospasm, Involuntary movements, Chorea, Limb ataxia, Gait ataxia, Tremor, Rigidity, Parkins... ORPHA:48818
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Congenital muscular torticollis, Hypoplastic vertebral bod... ORPHA:2916
Brachyolmia Type 3
Platyspondyly, Short neck, Scoliosis, Kyphosis OMIM:113500
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Rhabdomyolysis, Myopathy, Ataxia ORPHA:713
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Hypertonia, Tremor OMIM:250800
Larsen-Like Syndrome, Lethal Type
Neonatal death OMIM:245650
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Limb-girdle muscular dystrophy, Speech apraxia, Chorea, Tremor, Hyperkinetic movements, Hyperlord... OMIM:615356
Frank-Ter Haar Syndrome
Beaking of vertebral bodies, Scoliosis, Kyphosis, Camptodactyly of finger ORPHA:137834
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Combined Oxidative Phosphorylation Deficiency 11
Tongue fasciculations, Myoclonus, Death in childhood, Death in infancy, Neonatal death, Stillbirth OMIM:614922
Fanconi Anemia, Complementation Group O
Miscarriage, Death in infancy, Neonatal death OMIM:613390
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Kyphosis, Knee flexion contracture, Thoracic scoliosis OMIM:603387
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Scoliosis, Kyphosis OMIM:619797
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death OMIM:602199
Mucopolysaccharidosis, Type Iva
Platyspondyly, Hypoplasia of the odontoid process, Lumbar kyphosis, Short neck, Hyperlordosis, An... OMIM:253000
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star... OMIM:618056
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Camptodactyly of finger, S... ORPHA:628
Schaaf-Yang Syndrome
Camptodactyly, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Kyphosis OMIM:615547
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Kyphosis OMIM:300676
Idiopathic Juvenile Osteoporosis
Vertebral compression fracture, Kyphosis ORPHA:85193
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Spasticity, Tetraparesis, Gait ataxia, Action tremor, Dysmetria, Trem... ORPHA:99027
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short neck, Kyphosis, Hyperlordosis, Fused cervical vertebrae ORPHA:2522
Combined Oxidative Phosphorylation Deficiency 57
Dystonia, Myoclonus, Death in infancy, Neonatal death OMIM:620167
Cockayne Syndrome Type 2
Lower limb spasticity, Limb hypertonia, Ataxia, Flexion contracture, Scoliosis, Kyphosis ORPHA:90322
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Hyperlordosis ORPHA:3085
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Kyphosis, Lower limb hypertonia OMIM:169400
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Triosephosphate Isomerase Deficiency
Spasticity, Skeletal muscle atrophy, Myopathy, Tremor, Dystonia, Kyphosis OMIM:615512
Alexander Disease
Spasticity, Chorea, Tremor, Short neck, Abnormal pyramidal sign, Clonus, Hyperlordosis, Tetrapleg... ORPHA:58
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death OMIM:619817
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia ORPHA:1578
Srd5A3-Cdg
Abnormal sacrum morphology, Kyphosis, Ataxia ORPHA:324737
Urban-Rogers-Meyer Syndrome
Short neck, Kyphosis, Camptodactyly of finger, Flexion contracture of toe ORPHA:3409
Multiple System Atrophy 1, Susceptibility To
Skeletal muscle atrophy, Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia OMIM:146500
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Spastic paraplegia, Spasticity, Dysmetria, Tremor, Babinski sign, Ataxia OMIM:618527
Afibrinogenemia, Congenital
Death in adolescence, Death in childhood, Death in infancy, Neonatal death OMIM:202400
Smith-Mccort Dysplasia 1
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Short neck, Beaking ... OMIM:607326
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Platyspondyly, Thoracolumbar kyphosis, Elbow flexion contracture, Kyphoscoliosis, Abnormal curvat... ORPHA:93360
Rhizomelic Syndrome, Urbach Type
Short neck, Kyphosis, Abnormal form of the vertebral bodies ORPHA:3098
Alg1-Cdg
Scoliosis, Kyphosis ORPHA:79327
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death OMIM:618232
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Tremor, Scoliosis, Kyphosis, Scapular winging OMIM:617061
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Myoclonus, Death in childhood, Death in infancy, Neonatal death, Death in adolescence, Clonus, Sp... OMIM:619055
Ruvalcaba Syndrome
Scoliosis, Kyphosis OMIM:180870
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple OMIM:618272
Subaortic Stenosis-Short Stature Syndrome
Short neck, Scoliosis, Kyphosis ORPHA:3191
Rett Syndrome, Congenital Variant
Spasticity, Chorea, Apraxia, Dystonia, Athetosis, Scoliosis, Kyphosis OMIM:613454
Marden-Walker Syndrome
Joint contracture of the hand, Congenital contracture, Decreased muscle mass, Short neck, Camptod... OMIM:248700
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ataxia, Dystonia, Myoclonus, Neonatal death OMIM:619167
Clark-Baraitser syndrome
Scoliosis, Kyphosis OMIM:300602
Mucopolysaccharidosis, Type Vii
Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo... OMIM:253220
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Scoliosis, Kyphosis, Joint contracture OMIM:615381
Emanuel Syndrome
Congenital diaphragmatic hernia, Torticollis, Joint contracture, Scoliosis, Kyphosis, Sacral dimple OMIM:609029
Mucopolysaccharidosis, Type Ivb
Platyspondyly, Hypoplasia of the odontoid process, Hyperlordosis, Ataxia, Cervical subluxation, S... OMIM:253010
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculogyric crisis, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent falls, Chor... OMIM:612716
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Kyphosis, Lumbar hyperlordosis, Short neck, Cervical instability, Scoliosis, Back ... ORPHA:94068
Hurler-Scheie Syndrome
Camptodactyly of finger, Contracture of the distal interphalangeal joint of the fingers, Thenar m... OMIM:607015
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis OMIM:615433
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Lumbar hyperlordosis... OMIM:183900
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia, Scoliosis, Kyphosis ORPHA:94065
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Rigidity, Abnormality of extrapyramidal motor function, Babinsk... OMIM:617527
Foxg1 Syndrome Due To 14Q12 Microdeletion
Macroglossia, Scoliosis, Kyphosis ORPHA:261144
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Intention tremor, Dysmetria, Knee flexion contracture, Head titubation, Ataxia, Dystonia, Kyphosis OMIM:619708
Lymphatic Malformation 12
Death in adolescence, Neonatal death OMIM:620014
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Low back pain, Babinski sign, Abnormal pyramidal sign, Spastic gait, Spastic dysarthria, ... ORPHA:447753
Thanatophoric Dysplasia
Platyspondyly, Abnormal sacroiliac joint morphology, Kyphosis ORPHA:2655
Boomerang Dysplasia
Neonatal death OMIM:112310
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Spasticity, Decreased muscle mass, Myopathy, Rigidity, Dystonia, Babinski sign, Pa... OMIM:234200
3M Syndrome
Increased vertebral height, Short neck, Hyperlordosis, Scapular winging, Scoliosis, Kyphosis ORPHA:2616
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Spasticity, Thoracolumbar scoliosis, Hyperlordosis, Ataxia, Scoliosis, Kyphosis OMIM:618443
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Scoliosis, Kyphosis, Limb hypertonia OMIM:617190
Gm1-Gangliosidosis, Type I
Hypoplastic vertebral bodies, Short neck, Beaking of vertebral bodies, Hypertonia, Scoliosis, Kyp... OMIM:230500
Molybdenum Cofactor Deficiency, Type C
Limb hypertonia, Hypertonia, Neonatal death OMIM:615501
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Foot dorsifle... OMIM:164310
Stickler Syndrome, Type I
Platyspondyly, Spondylolisthesis, Morbus Scheuermann, Beaking of vertebral bodies, Scoliosis, Kyp... OMIM:108300
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Platyspondyly, Spasticity, Spastic tetraplegia, Rigidity, Ataxia, Kyphosis OMIM:618476
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy, Kyphosis OMIM:219080
Dysostosis, Stanescu Type
Short neck, Hyperlordosis, Macroglossia, Scoliosis, Kyphosis ORPHA:1798
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Elbow... ORPHA:508533
Trisomy 9P
Short neck, Scoliosis, Kyphosis, Sacral dimple ORPHA:236
Acro-Renal-Mandibular Syndrome
Butterfly vertebrae, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Scoliosis, Kyphosis ORPHA:958
Mucopolysaccharidosis Type 6
Macroglossia, Short neck, Kyphosis, Ovoid vertebral bodies ORPHA:583
Plaa-Associated Neurodevelopmental Disorder
Contractures of the large joints, Rigidity, Abnormality of extrapyramidal motor function, Progres... ORPHA:521426
Difference Of Sex Development-Intellectual Disability Syndrome
Spina bifida occulta, Short neck, Kyphosis ORPHA:2983
Lethal Congenital Contracture Syndrome 1
Neonatal death OMIM:253310
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Tremor, Short neck, Scoliosis, Kyphosis ORPHA:85293
Achondroplasia
Thoracolumbar kyphosis, Cervical spinal canal stenosis, Lumbar hyperlordosis, Spinal canal stenos... ORPHA:15
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Scoliosis, Kyphosis ORPHA:2075
Pituitary Adenoma 4, Acth-Secreting
Vertebral compression fracture, Skeletal muscle atrophy, Kyphosis, Biconcave vertebral bodies OMIM:219090
Developmental And Epileptic Encephalopathy 89
Spasticity, Tetraparesis, Death in childhood, Neonatal death, Hyperkinetic movements, Hypertonia,... OMIM:619124
Mucopolysaccharidosis Type 4
Platyspondyly, Spinal canal stenosis, Short neck, Hyperlordosis, Scoliosis, Kyphosis ORPHA:582
Pseudoachondroplasia
Platyspondyly, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Lumbar hyperlordosis... OMIM:177170
Desbuquois Dysplasia 1
Platyspondyly, Short neck, Hyperlordosis, Scoliosis, Kyphosis OMIM:251450
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormality of the vertebral column, Hemivertebrae, Abnormal intervertebral disk morphology, Scol... ORPHA:2062
Thanatophoric Dysplasia Type 2
Platyspondyly, Kyphosis ORPHA:93274
Multiple Pterygium Syndrome, Escobar Variant
Diaphragmatic eventration, Anterior clefting of vertebral bodies, Arthrogryposis multiplex congen... OMIM:265000
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Hypertonia, Progressive spasticit... ORPHA:192
19P13.12 Microdeletion Syndrome
Arthrogryposis multiplex congenita, Short neck, Scoliosis, Kyphosis ORPHA:254346
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Spasticity, Tremor, Prominent protruding coccyx, Short neck, Prominent coccyx, Ataxia, Dystonia, ... OMIM:300966
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Death in childhood, Tremor, Neonatal death, Ataxia, Intention tremor OMIM:614052
Fountain Syndrome
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3219
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Camptodactyly of finger, Congenital ... ORPHA:2215
Abcd Syndrome
Neonatal death OMIM:600501
Dyggve-Melchior-Clausen Disease
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Short neck, Beaking of v... OMIM:223800
Fliedner-Zweier Syndrome
Scoliosis, Kyphosis, Hypertonia OMIM:620511
Trisomy 20P
Platyspondyly, Abnormal form of the vertebral bodies, Camptodactyly of finger, Incoordination, Ve... ORPHA:261318
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Scoliosis, Kyphosis ORPHA:3121
Marfanoid Habitus With Situs Inversus
Scoliosis, Kyphosis OMIM:609008
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Short neck, Kyphosis ORPHA:3082
Osteogenesis Imperfecta, Type Iii
Scoliosis, Kyphosis, Biconcave vertebral bodies OMIM:259420
Cono-Spondylar Dysplasia
Short neck, Poor coordination, Scoliosis, Kyphosis ORPHA:420794
Lateral Meningocele Syndrome
Decreased muscle mass, Biconcave vertebral bodies, Short neck, Vertebral fusion, Scoliosis, Kyphosis OMIM:130720
Schwartz-Jampel Syndrome
Platyspondyly, Flexion contracture of toe, Blepharospasm, Skeletal muscle atrophy, Arthrogryposis... ORPHA:800
Orofaciodigital Syndrome Iii
Myoclonus, Kyphosis OMIM:258850
Combined Oxidative Phosphorylation Deficiency 40
Death in infancy, Neonatal death OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Neonatal death OMIM:618839
Weaver Syndrome
Joint contracture of the hand, Spasticity, Diastasis recti, Hypertonia, Camptodactyly, Scoliosis,... OMIM:277590
Cowden Syndrome 5
Scoliosis, Kyphosis, Intention tremor OMIM:615108
Congenital Disorder Of Glycosylation, Type Ia
Intention tremor, Tremor, Dysmetria, Ataxia, Flexion contracture, Kyphosis OMIM:212065
Congenital Disorder Of Glycosylation, Type Il
Short neck, Kyphosis OMIM:608776
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Kyphosis, Caudal interpedicular narrowing, Scoliosis, Posterior scalloping of vertebral bodies, I... OMIM:603546
Trisomy 13
Scoliosis, Kyphosis ORPHA:3378
Cowden Syndrome 6
Scoliosis, Kyphosis, Intention tremor OMIM:615109
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Scoliosis, Kyphosis, Skeletal muscle atrophy ORPHA:1969
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Scoliosis, Kyphosis ORPHA:261190
Lateral Meningocele Syndrome
Abnormal form of the vertebral bodies, Short neck, Hyperlordosis, Scoliosis, Kyphosis ORPHA:2789
Thyrotoxic Periodic Paralysis
Periodic hypokalemic paresis, Lower limb muscle weakness, Rhabdomyolysis, Tremor, Respiratory par... ORPHA:79102
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Platyspondyly, Thoracolumbar kyphosis, Thoracic platyspondyly, Knee flexion contracture, Thoracol... OMIM:618019
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Spasticity, Kyphoscoliosis, Hemivertebrae, Macroglossia, Scoliosis, Kyphosis OMIM:301040
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Lumbar hyperlordosis, Kyphosis, Neonatal death OMIM:616482
Hurler Syndrome
Hypoplasia of the odontoid process, Biconcave vertebral bodies, Short neck, C1-C2 subluxation, Ma... OMIM:607014
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Gait ataxia, Scoliosis, Kyphosis, Tremor ORPHA:476126
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Congenital Heart Defects And Skeletal Malformations Syndrome
Camptodactyly, Congenital diaphragmatic hernia, Scoliosis, Kyphosis OMIM:617602
3C Syndrome
Short neck, Scoliosis, Kyphosis, Hemivertebrae ORPHA:7
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Scoliosis, Kyphosis, Camptodactyly of finger OMIM:619951
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Elbow flexion contracture, Scoliosis, Kyphosis, Hip contracture OMIM:618493
Pycnodysostosis
Spondylolysis, Spondylolisthesis, Hyperlordosis, Upper motor neuron dysfunction, Scoliosis, Kyphosis ORPHA:763
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Scoliosis, Kyphosis ORPHA:404440
Mucopolysaccharidosis, Type Ii
Macroglossia, Short neck, Flexion contracture, Kyphosis OMIM:309900
Distal 16P11.2 Microdeletion Syndrome
Kyphosis ORPHA:261222
Megalocornea-Intellectual Disability Syndrome
Scoliosis, Kyphosis, Ataxia ORPHA:2479
Cole-Carpenter Syndrome
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2050
Alkaptonuria
Thickened Achilles tendon, Intervertebral disk degeneration, Low back pain, Vertebral fusion, Kyp... OMIM:203500
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Neonatal death, Tremor, Clonus, Hypertonia, Dystonia OMIM:617248
2P15P16.1 Microdeletion Syndrome
Camptodactyly of finger, Lower limb spasticity, Facial palsy, Scoliosis, Kyphosis ORPHA:261349
Basel-Vanagaite-Smirin-Yosef Syndrome
Spasticity, Scoliosis, Kyphosis OMIM:616449
Distal Triplication 15Q
Camptodactyly, Flexion contracture, Scoliosis, Kyphosis ORPHA:314588
Koolen-De Vries Syndrome
Spondylolisthesis, Hypotrophy of the small hand muscles, Vertebral fusion, Scoliosis, Kyphosis, S... OMIM:610443
Micro Syndrome
Spasticity, Scoliosis, Kyphosis ORPHA:2510
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Scoliosis, Kyphosis, Vertebral segmentation defect ORPHA:1005
Microphthalmia, Lenz Type
Kyphosis, Scoliosis, Hyperlordosis, Camptodactyly of finger ORPHA:568
Thanatophoric Dysplasia Type 1
Platyspondyly, Abnormal sacroiliac joint morphology, Kyphosis ORPHA:1860
Harrod Syndrome
Scoliosis, Kyphosis ORPHA:2115
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Scoliosis, Kyphosis OMIM:166220
Holt-Oram Syndrome
Scoliosis, Kyphosis ORPHA:392
Cowden Syndrome 1
Scoliosis, Kyphosis, Intention tremor OMIM:158350
Multiple Endocrine Neoplasia, Type Iib
Kyphosis, Scoliosis, Hyperlordosis, Myopathy OMIM:162300
Koolen-De Vries Syndrome
Vertebral fusion, Scoliosis, Kyphosis, Vertebral segmentation defect ORPHA:96169
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Abnormal form of the vertebral bodies, Myopathy, Hip contracture, Posterior scalloping of vertebr... ORPHA:3042
Cole-Carpenter Syndrome 2
Platyspondyly, Kyphosis OMIM:616294
Spondyloperipheral Dysplasia
Platyspondyly, Short neck, Kyphosis, Ovoid vertebral bodies, Irregular vertebral endplates OMIM:271700
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Bilateral camptodactyly, Scoliosis, Kyphosis OMIM:619557
Noonan Syndrome 14
Short neck, Kyphosis, Scapular winging OMIM:619745
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Flexion contracture, Scoliosis, Kyphosis ORPHA:500055
Spondyloenchondrodysplasia
Platyspondyly, Spasticity, Chorea, Kyphosis ORPHA:1855
X-Linked Intellectual Disability, Snyder Type
Involuntary movements, Decreased muscle mass, Myoclonus, Kyphoscoliosis, Camptodactyly, Kyphosis ORPHA:3063
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Elbow flexion contracture, Hip contracture, Knee flexion contracture, Short neck, Hypertonia, Mac... OMIM:619194
Marden-Walker Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:2461
Supranuclear Palsy, Progressive, 1
Limb dystonia, Axial dystonia, Retrocollis, Rigidity, Tremor, Parkinsonism, Bradykinesia, Eyelid ... OMIM:601104
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphosis, Left ventricular noncompaction, Speech apraxia, Tremor, Kyphoscoliosis, Ataxia, Scolios... OMIM:300967
Mucolipidosis Iii Alpha/Beta
Kyphosis, Scoliosis, Spondylolisthesis OMIM:252600
Mednik Syndrome
Death in childhood, Death in infancy, Neonatal death OMIM:609313
Prader-Willi Syndrome
Decreased muscle mass, Scoliosis, Poor gross motor coordination, Kyphosis, Poor fine motor coordi... OMIM:176270
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Contracture of the proximal interphalangeal joint of the 3rd finger, Short neck, Hemivertebrae, C... OMIM:618223
Basel-Vanagaite-Smirin-Yosef Syndrome
Spasticity, Contracture of the proximal interphalangeal joint of the 3rd finger, Scoliosis, Kyphosis ORPHA:464738
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Spastic tetraplegia, Spasticity, Cerebral palsy, Spastic diplegia, Intention tremor, Back pain, P... OMIM:619475
Pseudoxanthoma Elasticum, Forme Fruste
Scoliosis, Kyphosis OMIM:177850
2Q31.1 Microdeletion Syndrome
Camptodactyly of finger, Vertebral segmentation defect, Short neck, Scoliosis, Kyphosis ORPHA:251014
Camurati-Engelmann Disease
Skeletal muscle atrophy, Abnormality of the vertebral column, Hyperlordosis, Ataxia, Facial palsy... ORPHA:1328
Intellectual Developmental Disorder, Autosomal Dominant 73
Spasticity, Lumbar hyperlordosis, Knee flexion contracture, Apraxia, Thoracolumbar scoliosis, Hyp... OMIM:620450
Campomelic Dysplasia
Short neck, Scoliosis, Kyphosis, Poorly ossified cervical vertebrae ORPHA:140
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal death OMIM:265120
Sacral Agenesis With Vertebral Anomalies
Neonatal death OMIM:615709
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death OMIM:619362
Cardiofacioneurodevelopmental Syndrome
Camptodactyly, Kyphosis OMIM:619123
Spondyloarthropathy, Susceptibility To, 1
Sacroiliac arthritis, Kyphosis, Back pain OMIM:106300
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Abnormality of the vertebral column, Abnormal form of the vertebra... ORPHA:280
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis, Scapular winging OMIM:616914
Marshall-Smith Syndrome
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Kyphoscoliosis, Thoracic scoliosis,... OMIM:602535
Cockayne Syndrome
Spasticity, Congenital contracture, Skeletal muscle atrophy, Contractures of the large joints, Ac... ORPHA:191
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis OMIM:610475
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small hypothenar eminence, Lumbar hyperlordosis, Contracture of the proximal interphalangeal join... ORPHA:2232
Osteoporosis-Pseudoglioma Syndrome
Platyspondyly, Biconcave vertebral bodies, Kyphoscoliosis, Severe platyspondyly, Vertebral compre... OMIM:259770
16Q24.3 Microdeletion Syndrome
Scoliosis, Kyphosis ORPHA:261250
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Vertebral compression fracture, Scoliosis, Kyphosis OMIM:610915
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis OMIM:619244
Robinow Syndrome, Autosomal Dominant 3
Short neck, Camptodactyly, Scoliosis, Kyphosis, Sacral dimple OMIM:616894
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Camptodactyly of finger, Lumbar hyperlordosis, Intervertebral space narrowing, Narrow vertebral i... OMIM:143095
Mosaic Trisomy 20
Spinal canal stenosis, Vertebral segmentation defect, Vertebral fusion, Scoliosis, Kyphosis, Fuse... ORPHA:1724
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Intention tremor, Flexion contracture, Scoliosis, Kyphosis ORPHA:90324
Magel2-Related Prader-Willi-Like Syndrome
Flexion contracture, Scoliosis, Kyphosis ORPHA:398069
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Monosomy 9Q22.3
Short neck, Abnormality of the vertebral column, Kyphosis, Rhabdomyosarcoma ORPHA:77301
Intellectual Developmental Disorder, Autosomal Dominant 57
Scoliosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger OMIM:618050
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Gait ataxia, Kyphoscoliosis, Facial hypotonia, Kyphosis ORPHA:457359
Aspartylglucosaminuria
Platyspondyly, Spondylolysis, Spasticity, Spondylolisthesis, Beaking of vertebral bodies, Macrogl... OMIM:208400
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Kyphosis, Gait ataxia, Scoliosis, Hyperlordosis OMIM:617011
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Kyphosis, Sacral dimple, Kyphoscoliosis ORPHA:536532
Frank-Ter Haar Syndrome
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Prominent coccyx, Camptodactyly, Kyphosis OMIM:249420
Atelis Syndrome 2
Dysmetria, Kyphosis, Sacral dimple OMIM:620185
Cohen Syndrome
Scoliosis, Kyphosis ORPHA:193
Poland Syndrome
Congenital diaphragmatic hernia, Vertebral segmentation defect, Short neck, Hemivertebrae, Spina ... ORPHA:2911
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Abnormality of the cervical spine, Flexion contracture of finger, Scol... ORPHA:464311
Koolen-De Vries Syndrome Due To A Point Mutation
Cervical spinal canal stenosis, Speech apraxia, Spondylolisthesis, Hand muscle atrophy, Hyperlord... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cervical spinal canal stenosis, Speech apraxia, Spondylolisthesis, Hand muscle atrophy, Hyperlord... ORPHA:363958
Stickler Syndrome
Platyspondyly, Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Spinal canal steno... ORPHA:828
Mucolipidosis Type Ii
Diastasis recti, Hip contracture, Knee flexion contracture, Left ventricular hypertrophy, Kyphosis ORPHA:576
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis OMIM:610489
Intellectual Developmental Disorder, X-Linked 112
Scoliosis, Kyphosis, Kyphoscoliosis OMIM:301111
Autosomal Recessive Robinow Syndrome
Camptodactyly of finger, Vertebral segmentation defect, Short neck, Scoliosis, Kyphosis, Sacral d... ORPHA:1507
Dyrk1A-Related Intellectual Disability Syndrome
Abnormality of the cervical spine, Scoliosis, Kyphosis, Multiple joint contractures ORPHA:464306
Mgat2-Cdg
Scoliosis, Kyphosis ORPHA:79329
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Scoliosis, Kyphosis, Hemiplegia/hemiparesis ORPHA:394
Smith-Lemli-Opitz Syndrome
Abnormal form of the vertebral bodies, Congenital diaphragmatic hernia, Short neck, Hypertonia, S... ORPHA:818
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Scoliosis, Kyphosis OMIM:619718
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis OMIM:239000
Cockayne Syndrome A
Tremor, Kyphosis, Hip contracture, Ataxia OMIM:216400
Osteogenesis Imperfecta
Cervical kyphosis, Abnormal form of the vertebral bodies, Tetraparesis, Enlarged vertebral pedicl... ORPHA:666
Mend Syndrome
Limb hypertonia, Kyphosis, Sacral dimple ORPHA:401973
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Scoliosis, Kyphosis OMIM:619005
Cdags Syndrome
Kyphosis OMIM:603116
Zttk Syndrome
Spasticity, Hemivertebrae, Flexion contracture, Scoliosis, Kyphosis OMIM:617140
Hajdu-Cheney Syndrome
Hypoplastic 5th lumbar vertebrae, Biconcave vertebral bodies, Short neck, Scoliosis, Kyphosis ORPHA:955
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Cowden Syndrome
Macroglossia, Scoliosis, Kyphosis, Ataxia ORPHA:201
Cockayne Syndrome B
Kyphosis, Tremor, Ataxia OMIM:133540
Shprintzen Omphalocele Syndrome
Lumbar hyperlordosis, Scoliosis, Kyphosis OMIM:182210
Williams Syndrome
Macroglossia, Spasticity, Involuntary movements, Abnormal form of the vertebral bodies, Myopathy,... ORPHA:904
Mend Syndrome
Hypertonia, Kyphosis, Sacral dimple OMIM:300960
Cleidocranial Dysplasia 1
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypertonia, Ataxia, Scoliosis, Kyphosis, Sacral dimple ORPHA:268261
1P36 Deletion Syndrome
Spinal canal stenosis, Camptodactyly of finger, Myopathy, Hemiplegia/hemiparesis, Scoliosis, Kyph... ORPHA:1606
Lenz-Majewski Hyperostotic Dwarfism
Facial palsy, Scoliosis, Kyphosis ORPHA:2658
Acromegaly
Macroglossia, Spinal canal stenosis, Kyphosis, Cerebral palsy ORPHA:963
Somatomammotropinoma
Macroglossia, Spinal canal stenosis, Kyphosis, Cerebral palsy ORPHA:314769
Oculocerebrorenal Syndrome Of Lowe
Platyspondyly, Clonus, Scoliosis, Kyphosis ORPHA:534
Marfan Syndrome
Kyphosis, Scoliosis, Spondylolisthesis, Skeletal muscle atrophy ORPHA:558
Lymphedema-Distichiasis Syndrome
Kyphosis OMIM:153400
Alstrom Syndrome
Scoliosis, Kyphosis OMIM:203800
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Decreased muscle mass, Vertebral fusion, Scoliosis, Kyphos... OMIM:194190
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Scoliosis, Kyphosis OMIM:619482
Coffin-Siris Syndrome 1
Gait ataxia, Congenital diaphragmatic hernia, Spina bifida occulta, Scoliosis, Kyphosis, Sacral d... OMIM:135900
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis ORPHA:85199
Neurofibromatosis Type 1
Rhabdomyosarcoma, Scoliosis, Kyphosis, Ataxia ORPHA:636
Ramon Syndrome
Scoliosis, Kyphosis OMIM:266270
Occipital Horn Syndrome
Platyspondyly, Scoliosis, Kyphosis ORPHA:198
Lowe Oculocerebrorenal Syndrome
Platyspondyly, Joint contracture of the hand, Camptodactyly of finger, Scoliosis, Kyphosis OMIM:309000
Primrose Syndrome
Distal amyotrophy, Skeletal muscle atrophy, Kyphosis, Hip contracture, Knee flexion contracture, ... OMIM:259050
Occipital Horn Syndrome
Platyspondyly, Kyphosis OMIM:304150
Wrinkly Skin Syndrome
Hypoplasia of the musculature, Scoliosis, Kyphosis, Scapular winging OMIM:278250
Cerebrocostomandibular Syndrome
Kyphosis ORPHA:1393
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal vertebral morphology, Platyspondyly, Abnormality of the vertebral column, Camptodactyly ... ORPHA:2273
17Q11 Microdeletion Syndrome
Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3, Abnormal central motor f... ORPHA:97685
Sotos Syndrome
Abnormal vertebral morphology, Ankle flexion contracture, Poor coordination, Hip contracture, Tre... ORPHA:821
Proteus Syndrome
Abnormal form of the vertebral bodies, Decreased muscle mass, Myofibrillar myopathy, Scoliosis, K... ORPHA:744
Spondyloepimetaphyseal Dysplasia, X-Linked
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Anterior wedging of T11,... OMIM:300106
Coffin-Lowry Syndrome
Lumbar kyphosis, Scoliosis, Kyphosis OMIM:303600
Turner Syndrome Due To Structural X Chromosome Anomalies
Short neck, Scoliosis, Kyphosis ORPHA:99413
Turner Syndrome
Short neck, Scoliosis, Kyphosis ORPHA:881
Mosaic Monosomy X
Short neck, Scoliosis, Kyphosis ORPHA:99228
Monosomy X
Short neck, Scoliosis, Kyphosis ORPHA:99226
Viss Syndrome
Kyphosis, Butterfly vertebrae, Contracture of the proximal interphalangeal joint of the 2nd toe, ... OMIM:619472
Branchiooculofacial Syndrome
Elbow flexion contracture, Short neck, Hyperlordosis, Facial palsy, Kyphosis OMIM:113620
Yunis-Varon Syndrome
Kyphosis, Anterior concavity of thoracic vertebrae OMIM:216340
Alström Syndrome
Incoordination, Thoracic scoliosis, Lumbar scoliosis, Ataxia, Kyphosis, Poor fine motor coordination ORPHA:64
Arthrogryposis, Distal, Type 1B
Joint contracture of the hand, Foot joint contracture, Distal arthrogryposis, Camptodactyly, Arth... OMIM:614335
Distal Arthrogryposis Type 1
Camptodactyly of finger ORPHA:1146

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mybpc1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mybpc1.

No publications found that use IMPC mice or data for Mybpc1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Mybpc1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mybpc1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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