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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
Scapular winging, Lumbar hyperlordosis, Postural tremor, Spinal rigidity, Flexion contracture, To... OMIM:618524
Lethal Congenital Contracture Syndrome 4
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Distal arthrogryposis OMIM:614915
Arthrogryposis, Distal, Type 1B
Foot joint contracture, Distal arthrogryposis, Camptodactyly, Arthrogryposis multiplex congenita,... 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, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Lower limb spasticity, Kyphosis, Babinski sign, Spastic paraplegia, Ankl... OMIM:611225
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia ORPHA:401840
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus OMIM:611092
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Spinal muscular atrophy, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasciculations OMIM:182980
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal amyotrophy, Fiber type grouping OMIM:614369
Episodic Kinesigenic Dyskinesia 2
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia OMIM:611031
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Skeletal muscle atrophy, Ataxia, Tremor, Babinski sign, Flexion contracture, Spasticity OMIM:611105
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis, Increased v... OMIM:300718
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Sandhoff Disease, Adult Form
Tremor, Gait ataxia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Focal d... ORPHA:309169
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... OMIM:600175
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations, Spinal muscular atrophy, Kyphoscoliosis, Proximal amyotrophy OMIM:271200
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Distal amyotrophy, Vocal cord paralysis OMIM:158580
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... OMIM:614561
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal amyotrophy OMIM:617018
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Scoliosis OMIM:213000
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Involuntary movements, Dystonia OMIM:620245
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Calf muscle hypertrophy, Fasciculations OMIM:615048
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Ataxia, Tremor, Kyphosis, Distal upper limb amyotrophy, Scoliosis ORPHA:101075
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Distal amyotrophy, Ataxia, Kyphoscoliosis OMIM:619099
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Tremor, Ragged-red muscle fibers, Increased intramuscula... ORPHA:276435
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Spinocerebellar Ataxia 40
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... OMIM:616053
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Gait ataxia ORPHA:217012
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Postural tremor, Kyphoscol... OMIM:616668
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Spinal Muscular Atrophy, Type Iii
Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Distal amyotrophy, Shoulder girdl... OMIM:253400
Parastremmatic Dwarfism
Kyphosis, Flexion contracture, Scoliosis, Short neck OMIM:168400
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Ataxia, Tremor, Kyphosis, Scoliosis ORPHA:101078
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Distal amyotrop... OMIM:607317
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... OMIM:128230
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Dystonia 23
Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dystonia OMIM:614860
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait a... OMIM:607458
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Kyphoscoliosis, Spinal rigidity, Ankle contracture, Limb-gird... OMIM:620386
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bra... ORPHA:521406
X-Linked Charcot-Marie-Tooth Disease Type 3
Distal lower limb amyotrophy, Hand muscle weakness, Tremor, Intrinsic hand muscle atrophy, Proxim... ORPHA:101077
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:600116
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Death in childhood, Dystonia OMIM:619651
Parkinson Disease 17
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:614203
Bethlem Myopathy 2
Scapular winging, Kyphosis, Flexion contracture, Myopathy, Scoliosis, Increased variability in mu... OMIM:616471
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Frequent falls, Hemiballismus ORPHA:494526
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Scapular winging, Lower limb spasticity, Spinal muscular atrophy, Hyperlordosis,... OMIM:615290
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Upper limb amyotrophy, Scoliosis, Lower limb amyotrophy, Foot dorsiflexor weakness OMIM:617087
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Congenital Myopathy 16
Scapular winging, Lumbar hyperlordosis, Postural tremor, Spinal rigidity, Flexion contracture, To... OMIM:618524
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Limb dystonia ORPHA:210571
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis OMIM:618323
Roussy-Lévy Syndrome
Skeletal muscle atrophy, Postural tremor, Kyphoscoliosis, Babinski sign, Intrinsic hand muscle at... ORPHA:3115
Spastic Paraplegia 46, Autosomal Recessive
Lower limb spasticity, Kyphosis, Babinski sign, Spastic gait, Spastic paraplegia, Hand tremor, An... OMIM:614409
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia OMIM:605909
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, Truncal ataxia, ... ORPHA:314978
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Tremor, Kyphosis, Paraparesis, Skeletal muscle hypertrophy, Scoliosis ORPHA:99014
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Skeletal muscle atrophy, Progressive distal muscular atrophy, Spinal muscular atrophy, Facial pal... OMIM:159950
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... OMIM:604326
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Flexion contracture, Babinski sign, Spasticity, Distal amyotrophy, Hypertonia, Scoliosis,... OMIM:609260
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc... OMIM:605355
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Frequent falls, Spinal rigidity, Short neck, Kyphosis, Abnormal muscle fiber morphol... ORPHA:75840
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... ORPHA:98762
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... OMIM:602124
Pyknoachondrogenesis
Stillbirth OMIM:265880
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... ORPHA:454887
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Migraine, Familial Hemiplegic, 1
Tremor, Hemiplegia, Ataxia, Hemiparesis OMIM:141500
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Lower limb spasticity, Spinal rigidity, Hyperlordosis, Kyphosis, Proximal amyotrophy, Scoliosis OMIM:617404
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... ORPHA:314632
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Dystonia, Ataxia, Kyphosis, Slurred speech, Platyspondyly, Scoliosis, An... OMIM:230650
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Limb ... ORPHA:251282
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Congenital foot contractures, Distal amyotrophy, Scoliosis, Oculomotor apraxia ORPHA:3454
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity OMIM:615924
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Lower limb spasticity, Kyphoscoliosis, Babinski sign, Up... ORPHA:496689
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe... OMIM:619473
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb... ORPHA:216873
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... OMIM:617284
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Camptocormia, Dystonia, Involuntary movements, Chorea, Paroxysmal dyskinesia, Cho... OMIM:606703
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus OMIM:615400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos... OMIM:606612
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Postural tremor, Fatty replacement of skeletal muscle, Tremor, Increased var... OMIM:619790
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Generalized dystonia, Facial palsy, Writer's cramp, Hyp... OMIM:128100
Dystonia 12
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia OMIM:128235
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Kyphoscoliosis, Gait ataxia, Distal amyotrophy, Action tremor OMIM:180800
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p... ORPHA:98902
Spastic Paraplegia 53, Autosomal Recessive
Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Upper limb hypertonia, Dystonia OMIM:614898
Monomelic Amyotrophy
Tremor, Distal upper limb amyotrophy, Fasciculations ORPHA:65684
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Flexion contracture, Spastic tetraplegia, Myopathy, Dystonia, Neonatal death OMIM:618237
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria ORPHA:363710
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Urocanase Deficiency
Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Lower limb muscle weakn... OMIM:600363
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... ORPHA:240103
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus ORPHA:98763
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Tremor, Dysmetria, Gait ataxia, Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor... OMIM:618387
Lethal Congenital Contracture Syndrome 4
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Distal arthrogryposis OMIM:614915
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Kyphosis, E... OMIM:618138
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Short neck, Kyphosis, Camptodactyly, Neonatal death, Arthrogryposis mult... OMIM:618393
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, Flexion contracture, Increa... OMIM:618484
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dystonia, Craniofacial... ORPHA:71517
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Ataxia, Tongue fasciculations, Facial myokymia OMIM:620007
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Upper limb hypertonia, Clonus, Limb dystonia ORPHA:319199
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Ataxia, Dysmetria OMIM:617917
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia OMIM:618093
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Camptodactyly OMIM:618453
Atypical Juvenile Parkinsonism
Resting tremor, Dystonia, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, ... ORPHA:391411
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia ORPHA:324588
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor OMIM:620158
Lethal Congenital Contracture Syndrome 8
Neonatal death, Death in infancy, Vocal cord paralysis OMIM:616287
Immunoneurologic Disorder, X-Linked
Neonatal death, Spastic paraplegia OMIM:300076
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... OMIM:301310
Adult-Onset Distal Myopathy Due To Vcp Mutation
Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Fat... ORPHA:329478
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Type 2 muscle fiber predominance, Myoclonus OMIM:619028
Spinocerebellar Ataxia 23
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia OMIM:610245
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Kyphosis, Babinski sign, Flexion contracture, Spastic paraplegia, A... OMIM:609541
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Camptodactyly of finger, Acute rhabdomyolysis, Kyphosis, Abnormal pyramidal sign, Dysmetr... ORPHA:48431
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus OMIM:615362
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Skeletal muscle atrophy, Oculogyric crisis, Tremor, Scoliosis, Dystonia ORPHA:330050
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus OMIM:613608
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Short neck, Kyphosis, Facial diplegia, Scoliosis, Dystonia, Neonatal dea... OMIM:611890
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Involuntary movements, Centrally nucleated skeletal muscle fibers, Chorea... ORPHA:401768
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Congenital fibrosis of extraocular muscles OMIM:609384
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Tremor, Intrinsic hand muscle atrophy... OMIM:619574
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Skeletal muscle atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, B... OMIM:615157
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... ORPHA:397946
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Short neck, Vocal cord paralysis, Decreased cervical spine flexion due to contractures... ORPHA:98863
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lower limb spasticity, Lumbar hyperlordosis, Ataxia, Kyphosis, Scoliosis, Dystonia OMIM:616756
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Parkinsonism With Polyneuropathy
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:619279
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Myopathy, Generalized limb muscle atrophy, Scoliosis ORPHA:2598
Lopes-Maciel-Rodan Syndrome
Tremor, Kyphosis, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Hypertonia, Scoliosis, Dys... OMIM:617435
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Ataxia, Kyphoscoliosis, Muscular dystrophy, Dystonia, Oculom... ORPHA:459033
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Thoracic scoliosis, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Thoracic kyphosis... OMIM:610185
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... OMIM:617145
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Facial hypotonia, Ataxia, Kyphoscoliosis, Short neck, Tremor, Parkinson... OMIM:300055
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Scoliosis, Eyelid myoclonus OMIM:616421
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Increas... ORPHA:178148
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Tremor, Flexion contracture, Clumsiness, Eyelid myoclonus, Myoclonus, Scoliosis, Limb myoclonus, ... ORPHA:2590
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:617836
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Spinal rigidity, Hyperlordo... ORPHA:98855
Masa Syndrome
Lower limb spasticity, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia OMIM:303350
Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Spinal rigidity, Hyperlordo... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Spinal rigidity, Hyperlordo... ORPHA:98853
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor OMIM:619738
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetr... ORPHA:96
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Ataxia, Centrally nucleated skeletal muscle fibers, Kyphosis, Flexion co... OMIM:248800
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Kyphos... OMIM:255200
Charcot-Marie-Tooth Disease And Deafness
Thenar muscle atrophy, Tremor, Thenar muscle weakness, Distal amyotrophy, Limb muscle weakness, F... OMIM:118300
Charcot-Marie-Tooth Disease, Type 4K
Skeletal muscle atrophy, Ataxia, Kyphoscoliosis, Dystonia OMIM:616684
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Calf muscle... OMIM:607155
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Scoliosis, Dystonia ORPHA:306669
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me... ORPHA:240085
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Dystonia, Hy... OMIM:618049
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Urocanic Aciduria
Action tremor, Ataxia, Truncal ataxia, Gait ataxia ORPHA:210128
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramidal motor function, Scol... OMIM:610743
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Spinal rigidity, Kyphosis, Flexion contrac... OMIM:254090
Autosomal Recessive Ataxia, Beauce Type
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Kyphosis, Babinski sign, Dysmetria, Clums... ORPHA:88644
Ichthyosis, Congenital, Autosomal Recessive 4B
Rigidity, Death in infancy, Neonatal death OMIM:242500
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia OMIM:278780
Hypermanganesemia With Dystonia 2
Generalized dystonia, Limb joint contracture, Parkinsonism, Dystonia, Tremor, Achilles tendon con... OMIM:617013
Epilepsy, Progressive Myoclonic, 6
Tremor, Ataxia, Myoclonus, Scoliosis OMIM:614018
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Distal lower limb amyotrophy, Incoordination, Hand muscle weakness, Tremor, Paraparesis, Achilles... OMIM:302800
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death OMIM:301021
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity OMIM:213200
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Weakness of facial musculature, Ataxia OMIM:618637
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis, Chorea, Abnormal pyramidal sign, Gait ataxia, Abnormality of extrapyramidal motor funct... ORPHA:500180
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Congenital muscular dystrophy ORPHA:1875
Leukodystrophy, Hypomyelinating, 11
Tremor, Spasticity, Ataxia, Myoclonus OMIM:616494
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter... OMIM:616470
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia ORPHA:139485
Spinocerebellar Ataxia, Autosomal Recessive 21
Skeletal muscle atrophy, Tremor, Limb ataxia, Gait ataxia, Spasticity, Frequent falls OMIM:616719
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Facial palsy, Spinal rigidity, Kyphosis, Ragged-red muscle fibers... OMIM:615084
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Increased intramyocellular lipid droplets, De... OMIM:612016
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia OMIM:617916
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis ORPHA:329284
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Tremor, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, Fasciculations,... ORPHA:209335
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis, Tremor, Rigidity,... ORPHA:99750
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Calf muscle hypertrophy, Limb muscle weakness, Fasciculations OMIM:313200
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Tremor, Chorea, Limb ataxia, Gait ataxia, Distal amyotrophy, Scoliosis, Truncal... OMIM:208920
Atypical Rett Syndrome
Dystonia, Involuntary movements, Tremor, Kyphosis, Limb myoclonus, Gait ataxia, Pill-rolling trem... ORPHA:3095
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin... OMIM:618877
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Sialidosis Type 2
Skeletal muscle atrophy, Ataxia, Tremor, Kyphosis, Flexion contracture 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, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... OMIM:619725
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Myoclonus, Myoclonic... ORPHA:79263
Spinocerebellar Ataxia With Epilepsy
Tremor, Dysmetria, Gait ataxia, Myopathy, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoc... ORPHA:254881
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia, Dystonia OMIM:619911
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Lower limb spasticity, Abnormality of the musculature of the lower limbs, Ataxia, Kyphosis, Fasci... ORPHA:464282
Typical Nemaline Myopathy
Facial palsy, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Limb-girdle muscle weakness, ... ORPHA:171436
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb... OMIM:261640
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Flexion contracture, Babinski sign, Dysmetria, Gait ataxia, Distal amyotrophy, Hy... OMIM:616505
Myofibrillar Myopathy 10
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Left ve... OMIM:619040
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Hypomimic face, Dystonia, Limb... ORPHA:70594
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Distal amyotrophy OMIM:607734
Primary Dystonia, Dyt4 Type
Torticollis, Generalized dystonia, Involuntary movements, Kyphoscoliosis, Upper limb postural tre... ORPHA:98805
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Choreoathetosis, Dystonia OMIM:612126
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Rigidity, Dysmetria, Gait ataxia OMIM:618090
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia OMIM:233910
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... OMIM:606693
Sandhoff Disease
Kyphosis, Ataxia ORPHA:796
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Myoclonus, Head tremor,... ORPHA:420492
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis ORPHA:85288
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Foot dorsiflexor weakness, Ataxia, Scoliosis OMIM:618124
Spinocerebellar Ataxia Type 21
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... ORPHA:98773
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Thoracolumbar scoliosis, Kyphosis, Knee flexion contracture, Platyspondyly OMIM:313420
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Death in early adulthood, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Sp... OMIM:607694
Developmental And Epileptic Encephalopathy 42
Ataxia, Tremor, Flexion contracture, Athetosis, Hypertonia OMIM:617106
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor OMIM:614307
Combined Oxidative Phosphorylation Deficiency 21
Neonatal death, Limb hypertonia OMIM:615918
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Tremor, Vocal cord paralysis, Myopathy, Increased variabili... ORPHA:397744
Winchester Syndrome
Kyphosis OMIM:277950
Behr Syndrome
Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Dysmetria, Adductor longus contractur... OMIM:210000
Autism Spectrum Disorder Due To Auts2 Deficiency
Cerebral palsy, Kyphosis, Congenital contracture, Hypertonia, Joint contracture of the 5th finger... ORPHA:352490
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis OMIM:614831
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Neonatal death, Death in infancy OMIM:617184
Congenital Myopathy 22A, Classic
Hip contracture, Thoracic scoliosis, Scapular winging, Spinal rigidity, Centrally nucleated skele... OMIM:620351
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Spinal rigidity, Kyphosis, Ragged-red muscle fibers, Myopathy, Ge... ORPHA:352447
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Spasticity, Scoliosis ORPHA:2429
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,... ORPHA:101
Peroxisome Biogenesis Disorder 5B
Ataxia, Tremor, Dysmetria, Death in childhood, Oculomotor apraxia OMIM:614867
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Spastic gait OMIM:616795
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Neonatal death, Death in infancy, Death in childhood OMIM:620265
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Tremor, Flexion contracture, Slurred speech, Generalized limb muscle atrophy, Tru... ORPHA:137898
Wieacker-Wolff Syndrome
Dystonia, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Congenital foot contractures, Distal... OMIM:314580
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Myopathy, Scoliosis OMIM:618234
Stuve-Wiedemann Syndrome 2
Neonatal death, Stillbirth, Death in adolescence OMIM:619751
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity ORPHA:1170
Bruck Syndrome 1
Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Vertebral wedgin... OMIM:259450
Postencephalitic Parkinsonism
Resting tremor, Camptocormia, Involuntary movements, Oculogyric crisis, Rigidity, Kyphosis, Babin... ORPHA:97349
Spastic Paraplegia 9B, Autosomal Recessive
Skeletal muscle atrophy, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar par... OMIM:616586
Sialidosis Type 1
Skeletal muscle atrophy, Ataxia, Tremor, Kyphosis, Slurred speech, Abnormal form of the vertebral... ORPHA:812
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Ataxia, Scoliosis ORPHA:85317
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Kyphosis, Vocal cord paralysi... OMIM:211530
O'Sullivan-Mcleod Syndrome
Hand muscle weakness, Tremor, Intrinsic hand muscle atrophy, Upper limb muscle weakness, Fascicul... ORPHA:99965
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Cystathioninuria
Tremor ORPHA:212
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... OMIM:607060
Intellectual Developmental Disorder, Autosomal Dominant 26
Cerebral palsy, Kyphosis, Hypertonia, Scoliosis, Arthrogryposis multiplex congenita OMIM:615834
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myopathy, Myoclonu... ORPHA:363400
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Scoliosis ORPHA:276630
Borjeson-Forssman-Lehmann Syndrome
Scheuermann-like vertebral changes, Kyphosis, Scoliosis, Cervical spinal canal stenosis OMIM:301900
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death OMIM:615228
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Ataxia, Dysmetria, Titubation OMIM:619405
Rett Syndrome
Skeletal muscle atrophy, Dystonia, Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Truncal ataxia... OMIM:312750
Sjögren-Larsson Syndrome
Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Scoliosis, Spasticity ORPHA:816
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism ORPHA:178509
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Death in infancy, Death in childhood OMIM:614096
Mohr-Tranebjaerg Syndrome
Tremor, Spasticity, Intrinsic hand muscle atrophy, Dystonia OMIM:304700
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... OMIM:137440
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death OMIM:612138
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality... OMIM:613280
Zimmermann-Laband Syndrome 3
Kyphosis, Flexion contracture OMIM:618658
Spinocerebellar Ataxia Type 27
Tremor, Hand tremor, Limb ataxia, Gait ataxia, Truncal ataxia ORPHA:98764
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Abnormal form of the ... ORPHA:2635
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Ataxia, Scoliosis OMIM:300861
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death OMIM:619602
Combined Oxidative Phosphorylation Deficiency 32
Kyphoscoliosis, Tremor, Spasticity, Choreoathetosis, Dystonia, Joint contracture OMIM:617664
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Flexion con... OMIM:156530
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Death in infancy, Spasticity OMIM:613730
Crisponi Syndrome
Camptodactyly of finger, Kyphosis, Flexion contracture, Hypertonia, Scoliosis ORPHA:1545
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, G... OMIM:617710
Arthrogryposis, Distal, Type 5
Decreased muscle mass, Kyphosis, Distal arthrogryposis, Firm muscles, Hypertonia, Scoliosis, Cong... OMIM:108145
Flynn-Aird Syndrome
Kyphosis, Ataxia, Scoliosis, Skeletal muscle atrophy ORPHA:2047
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Cdkl5-Deficiency Disorder
Kyphosis, Scoliosis ORPHA:505652
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Resting tremor, Parkinsonism, Kyphoscoliosis, Tremor ORPHA:3077
Baralle-Macken Syndrome
Kyphosis, Spasticity, Dystonia OMIM:619255
Arthrogryposis, Distal, Type 4
Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis,... OMIM:609128
Hemifacial Atrophy, Progressive
Kyphosis, Ataxia OMIM:141300
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis OMIM:618392
Mcdonough Syndrome
Kyphosis, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis ORPHA:2471
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis OMIM:300894
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia OMIM:618060
Ceroid Lipofuscinosis, Neuronal, 10
Rigidity, Spasticity, Ataxia, Neonatal death OMIM:610127
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe... ORPHA:240071
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Blepharospasm, Myoclonus OMIM:607876
Developmental Malformations-Deafness-Dystonia Syndrome
Macroglossia, Kyphosis, Generalized dystonia, Scoliosis ORPHA:79107
Pelizaeus-Merzbacher Disease
Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Spastic paraplegia, Abnorm... OMIM:312080
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Tremor, Kyphosis, Gait ataxia, Macroglossia OMIM:300354
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Scoliosis ORPHA:1548
Zimmermann-Laband Syndrome 2
Macroglossia, Kyphosis, Short neck OMIM:616455
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Dystonia, Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Distal amyotrophy, P... OMIM:606002
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Dysmetria, Limb ataxia, Distal amyotrophy, Dysdiadochokinesis, Scoliosis, Truncal... OMIM:617675
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death OMIM:601612
Uruguay Faciocardiomusculoskeletal Syndrome
Left ventricular hypertrophy, Kyphoscoliosis, Kyphosis, Skeletal muscle hypertrophy, Scoliosis, C... OMIM:300280
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Vertebral segmentation defect, Hypertonia, Scoliosis ORPHA:2617
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Contracture of the proximal interphalangeal joint of the 3rd finger, Kyphosis, Contracture of the... OMIM:130060
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Skeletal muscle atrophy, Dysmetria OMIM:615578
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, Upper limb muscle weakn... ORPHA:466768
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Facial palsy, Short neck, Kyphosis, Achilles tendon contracture, Flexion contrac... OMIM:301041
Hall-Riggs Syndrome
Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis OMIM:234250
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Kyphosis, Flexion contractur... OMIM:618291
Neurodegeneration With Brain Iron Accumulation 4
Scapular winging, Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyr... OMIM:614298
Becker Nevus Syndrome
Shoulder girdle muscle atrophy, Kyphosis, Spina bifida occulta, Scoliosis ORPHA:64755
Myasthenic Syndrome, Congenital, 20, Presynaptic
Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita OMIM:617143
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:168600
Cardiomyopathy, Dilated, 2H
Neonatal death OMIM:620203
Bruck Syndrome
Kyphosis, Platyspondyly, Arthrogryposis multiplex congenita, Scoliosis ORPHA:2771
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp... OMIM:614381
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hemiplegia, Kyphosis, Scoliosis ORPHA:2181
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Death in childhood OMIM:619334
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis OMIM:615761
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Kyphoscoliosis, Hand muscle weakness, Tremor, Vocal cord... ORPHA:99956
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Tremor, Increased variability in muscle fiber diameter, Dysmetria, Increased muscle glycogen cont... ORPHA:502423
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Kyphosis, Gait ataxia, Scoliosis, Camptodactyly, Flexion contracture ... ORPHA:88628
Mucolipidosis Iii Gamma
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:252605
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Joint contracture of the 5th finger, Camptodactyly of finger, Scoliosis ORPHA:1883
4Q21 Microdeletion Syndrome
Tremor, Kyphosis, Scoliosis, Short neck ORPHA:238750
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Tremor, Rigidity, Spastic dysarthria, Blepharospasm, Bradykinesia, Oculomotor apraxia, Distal low... ORPHA:240094
Pelizaeus-Merzbacher Disease
Ataxia, Kyphosis, Choreoathetosis, Scoliosis, Dystonia, Spasticity ORPHA:702
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Spastic tetraparesis, Opisthotonus, Abnormality of extrapyramidal motor functio... OMIM:605711
Autosomal Recessive Spastic Paraplegia Type 35
Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Kyphosis, Babinski sign, Spast... ORPHA:171629
Migraine, Familial Hemiplegic, 2
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia OMIM:602481
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Gm1 Gangliosidosis
Generalized dystonia, Ataxia, Camptodactyly of finger, Hyperlordosis, Tremor, Kyphosis, Aplasia/H... ORPHA:354
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Increased intervertebral sp... ORPHA:93314
Alpha-Mannosidosis
Macroglossia, Kyphosis, Scoliosis, Short neck ORPHA:61
X-Linked Intellectual Disability Due To Gria3 Mutations
Facial hypotonia, Kyphosis, Babinski sign, Myoclonus, Scoliosis, Spasticity, Abnormality of muscl... ORPHA:364028
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis OMIM:259440
Fetal Gaucher Disease
Neonatal death, Death in infancy, Stillbirth, Hypertonia ORPHA:85212
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Camptodactyly of finger, Congenital diaphragmatic hernia... ORPHA:2311
Jaberi-Elahi Syndrome
Appendicular spasticity, Tremor, Kyphosis, Dysmetria, Gait ataxia, Choreoathetosis, Scoliosis, Dy... OMIM:617988
Tay-Sachs Disease
Skeletal muscle atrophy, Exaggerated startle response, Incoordination, Dystonia, Lower limb muscl... ORPHA:845
Hypomelanosis Of Ito
Kyphosis, Scoliosis OMIM:300337
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:615530
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Congenital muscular torticollis, Kyphosis, Hemivertebrae, Abnormal form of the ... ORPHA:2916
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Myopathy, Rhabdomyolysis, Ataxia ORPHA:713
Fucosidosis
Decreased muscle mass, Kyphosis, Abnormal pyramidal sign, Spastic tetraplegia, Anterior beaking o... ORPHA:349
Pontocerebellar Hypoplasia, Type 17
Paroxysmal dystonia, Kyphosis, Spastic tetraplegia, Limb hypertonia OMIM:619909
Larsen-Like Syndrome, Lethal Type
Neonatal death OMIM:245650
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Speech apraxia, Dystonia, Ataxia, Hyperlordosis, Tremor, Chorea, Athetosis, Hyperkinetic movement... OMIM:615356
Frank-Ter Haar Syndrome
Kyphosis, Beaking of vertebral bodies, Camptodactyly of finger, Scoliosis ORPHA:137834
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Stillbirth, Tongue fasciculations, Myoclonus, Death in childhood, Neonatal death OMIM:614922
Fanconi Anemia, Complementation Group O
Neonatal death, Death in infancy, Miscarriage OMIM:613390
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis, Skeletal muscle atrophy, Knee flexion contracture OMIM:603387
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Scoliosis OMIM:619797
Aceruloplasminemia
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Chorea, Limb ataxia, ... ORPHA:48818
Perry Syndrome
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:168605
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death OMIM:602199
Diastrophic Dysplasia
Camptodactyly of finger, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic ... ORPHA:628
Schaaf-Yang Syndrome
Kyphosis, Flexion contracture, Scoliosis, Camptodactyly, Arthrogryposis multiplex congenita OMIM:615547
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Flexion contr... ORPHA:99027
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim... OMIM:618056
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Scoliosis OMIM:300676
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck ORPHA:2522
Combined Oxidative Phosphorylation Deficiency 57
Neonatal death, Death in infancy, Myoclonus, Dystonia OMIM:620167
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Hyperlordosis ORPHA:3085
Mucopolysaccharidosis, Type Iva
Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ... OMIM:253000
Cockayne Syndrome Type 2
Lower limb spasticity, Ataxia, Kyphosis, Flexion contracture, Scoliosis, Limb hypertonia ORPHA:90322
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis OMIM:613239
Pelger-Huet Anomaly
Kyphosis, Lower limb hypertonia, Foot dorsiflexor weakness OMIM:169400
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Tremor, Kyphosis, Myopathy, Dystonia, Spasticity OMIM:615512
Urban-Rogers-Meyer Syndrome
Kyphosis, Flexion contracture of toe, Camptodactyly of finger, Short neck ORPHA:3409
Alexander Disease
Ataxia, Facial palsy, Clonus, Hyperlordosis, Short neck, Kyphosis, Tremor, Chorea, Abnormal pyram... ORPHA:58
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity OMIM:618527
Smith-Mccort Dysplasia 1
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... OMIM:607326
Rhizomelic Syndrome, Urbach Type
Kyphosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3098
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death OMIM:619817
Multiple System Atrophy 1, Susceptibility To
Skeletal muscle atrophy, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia OMIM:146500
Alg1-Cdg
Kyphosis, Scoliosis ORPHA:79327
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in infancy, Clonus, Spastic tetraplegia, Death in adolescence, Myoclonus, Death in childhoo... OMIM:619055
Afibrinogenemia, Congenital
Neonatal death, Death in infancy, Death in adolescence, Death in childhood OMIM:202400
Srd5A3-Cdg
Kyphosis, Abnormal sacrum morphology, Ataxia ORPHA:324737
Ruvalcaba Syndrome
Kyphosis, Scoliosis OMIM:180870
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:3191
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Tremor, Kyphosis, Scapular winging, Scoliosis OMIM:617061
Marden-Walker Syndrome
Decreased muscle mass, Short neck, Kyphosis, Congenital contracture, Scoliosis, Camptodactyly, Jo... OMIM:248700
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple OMIM:618272
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Abnormal curvature of the vertebral column, ... ORPHA:93360
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Clark-Baraitser syndrome
Kyphosis, Scoliosis OMIM:300602
Emanuel Syndrome
Sacral dimple, Torticollis, Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Joint contracture OMIM:609029
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Neonatal death, Ataxia, Myoclonus, Dystonia OMIM:619167
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Diastasis recti, Short neck, Hypoplasia of the odon... OMIM:253220
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Joint contracture, Scoliosis OMIM:615381
Rett Syndrome, Congenital Variant
Dystonia, Kyphosis, Chorea, Athetosis, Scoliosis, Apraxia, Spasticity OMIM:613454
15Q24 Microdeletion Syndrome
Kyphosis, Congenital diaphragmatic hernia, Scoliosis ORPHA:94065
Hurler-Scheie Syndrome
Camptodactyly of finger, Thenar muscle atrophy, Kyphosis, Contracture of the distal interphalange... OMIM:607015
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis OMIM:615433
Foxg1 Syndrome Due To 14Q12 Microdeletion
Macroglossia, Kyphosis, Scoliosis ORPHA:261144
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Head titubation, Kyphosis, Dysmetria, Knee flexion contracture, Dystonia, Intention tremor OMIM:619708
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... ORPHA:94068
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death OMIM:618232
Autosomal Dominant Spastic Paraplegia Type 9A
Low back pain, Tremor, Babinski sign, Abnormal pyramidal sign, Spastic dysarthria, Lower limb hyp... ORPHA:447753
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Rigidity, Kyphosis, Babinski sign, Abnormal pyramidal sign, Contrac... OMIM:617527
Boomerang Dysplasia
Neonatal death OMIM:112310
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:2655
Lymphatic Malformation 12
Neonatal death, Death in adolescence OMIM:620014
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Decreased muscle mass, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Abn... OMIM:234200
Mucopolysaccharidosis, Type Ivb
Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Plat... OMIM:253010
3M Syndrome
Scapular winging, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis ORPHA:2616
Gm1-Gangliosidosis, Type I
Short neck, Kyphosis, Hypoplastic vertebral bodies, Hypertonia, Scoliosis, Beaking of vertebral b... OMIM:230500
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Scoliosis, Spasticity OMIM:618443
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis, Limb hypertonia OMIM:617190
Molybdenum Cofactor Deficiency, Complementation Group C
Neonatal death, Hypertonia, Limb hypertonia OMIM:615501
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Spastic tetraplegia, Platyspondyly, Spasticity OMIM:618476
Stickler Syndrome, Type I
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... OMIM:108300
Mucopolysaccharidosis Type 6
Macroglossia, Kyphosis, Ovoid vertebral bodies, Short neck ORPHA:583
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... ORPHA:508533
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis, Skeletal muscle atrophy OMIM:219080
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae ORPHA:958
Difference Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Spina bifida occulta, Short neck ORPHA:2983
Dysostosis, Stanescu Type
Hyperlordosis, Short neck, Kyphosis, Macroglossia, Scoliosis ORPHA:1798
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies, Skeletal muscle atrophy OMIM:219090
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Short neck, Tremor, Kyphosis, Scoliosis ORPHA:85293
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Facial palsy, Ataxia, Tremor, Distal amyotrophy, Increased variability in mu... OMIM:164310
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Rigidity, Kyphosis, Contractures of the large joints, Progressive s... ORPHA:521426
Genitopalatocardiac Syndrome
Kyphosis, Congenital diaphragmatic hernia, Scoliosis ORPHA:2075
Lethal Congenital Contracture Syndrome 1
Neonatal death OMIM:253310
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... OMIM:177170
Developmental And Epileptic Encephalopathy 89
Death in childhood, Hypertonia, Hyperkinetic movements, Tetraparesis, Dystonia, Neonatal death, S... OMIM:619124
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Short neck OMIM:608776
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca... ORPHA:15
Desbuquois Dysplasia 1
Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis OMIM:251450
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Thoracolumbar scoliosis, Congenital diaphragmatic hernia, Short neck... OMIM:265000
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly ORPHA:93274
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Ataxia, Short neck, Tremor, Kyphosis, Prominent protruding coccyx, Spastic diplegi... OMIM:300966
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Kyphosis, Abnormal form of the vertebral bodies, Hypertonia, Scoliosis, ... ORPHA:192
Mucopolysaccharidosis Type 4
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoliosis ORPHA:582
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
19P13.12 Microdeletion Syndrome
Kyphosis, Arthrogryposis multiplex congenita, Scoliosis, Short neck ORPHA:254346
Fountain Syndrome
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3219
Multiple Pterygium-Malignant Hyperthermia Syndrome
Congenital muscular torticollis, Skeletal muscle atrophy, Camptodactyly of finger, Kyphosis, Scol... ORPHA:2215
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... OMIM:223800
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Ataxia, Tremor, Death in childhood, Neonatal death, Intention tremor OMIM:614052
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis ORPHA:3121
Trisomy 20P
Incoordination, Camptodactyly of finger, Short neck, Kyphosis, Abnormal form of the vertebral bod... ORPHA:261318
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Short neck ORPHA:3082
Abcd Syndrome
Neonatal death OMIM:600501
Schwartz-Jampel Syndrome
Hip contracture, Abnormally ossified vertebrae, Skeletal muscle atrophy, Shoulder flexion contrac... ORPHA:800
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Scoliosis OMIM:259420
Orofaciodigital Syndrome Iii
Kyphosis, Myoclonus OMIM:258850
Lateral Meningocele Syndrome
Vertebral fusion, Decreased muscle mass, Short neck, Kyphosis, Scoliosis, Biconcave vertebral bodies OMIM:130720
Marfanoid Habitus With Situs Inversus
Kyphosis, Scoliosis OMIM:609008
Cono-Spondylar Dysplasia
Kyphosis, Poor coordination, Scoliosis, Short neck ORPHA:420794
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Death in infancy OMIM:618835
Alkaptonuria
Vertebral fusion, Low back pain, Kyphosis, Thickened Achilles tendon, Intervertebral disc degener... OMIM:203500
Cowden Syndrome 5
Kyphosis, Scoliosis, Intention tremor OMIM:615108
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Death in infancy OMIM:618839
Weaver Syndrome
Diastasis recti, Kyphosis, Slurred speech, Poor fine motor coordination, Hypertonia, Scoliosis, C... OMIM:277590
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Tremor, Kyphosis, Flexion contracture, Dysmetria, Intention tremor OMIM:212065
Trisomy 13
Kyphosis, Scoliosis ORPHA:3378
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Scoliosis, Skeletal muscle atrophy ORPHA:1969
Cowden Syndrome 6
Kyphosis, Scoliosis, Intention tremor OMIM:615109
15Q14 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261190
Lateral Meningocele Syndrome
Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis ORPHA:2789
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Kyphosis, Hemivertebrae, Macroglossia, Scoliosis, Spasticity OMIM:301040
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Kyphosis, Scoliosis, Gait ataxia ORPHA:476126
3C Syndrome
Kyphosis, Hemivertebrae, Scoliosis, Short neck ORPHA:7
Hurler Syndrome
Short neck, Hypoplasia of the odontoid process, Kyphosis, Flexion contracture, Macroglossia, Bico... OMIM:607014
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Neonatal death, Kyphosis, Platyspondyly, Lumbar hyperlordosis OMIM:616482
Congenital Heart Defects And Skeletal Malformations Syndrome
Kyphosis, Congenital diaphragmatic hernia, Scoliosis, Camptodactyly OMIM:617602
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Pycnodysostosis
Hyperlordosis, Kyphosis, Spondylolysis, Scoliosis, Upper motor neuron dysfunction, Spondylolisthesis ORPHA:763
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Kyphosis, Elbow flexion contracture, Scoliosis OMIM:618493
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, Scoliosis ORPHA:404440
Distal 16P11.2 Microdeletion Syndrome
Kyphosis ORPHA:261222
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Ataxia, Scoliosis ORPHA:2479
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Kyphosis, Camptodactyly of finger, Scoliosis OMIM:619951
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Spasticity, Scoliosis OMIM:616449
2P15P16.1 Microdeletion Syndrome
Lower limb spasticity, Camptodactyly of finger, Facial palsy, Kyphosis, Scoliosis ORPHA:261349
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Clonus, Tremor, Hypertonia, Dystonia, Neonatal death OMIM:617248
Distal Triplication 15Q
Kyphosis, Flexion contracture, Scoliosis, Camptodactyly ORPHA:314588
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:1005
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:1860
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2050
Micro Syndrome
Kyphosis, Spasticity, Scoliosis ORPHA:2510
Harrod Syndrome
Kyphosis, Scoliosis ORPHA:2115
Mucopolysaccharidosis, Type Ii
Macroglossia, Kyphosis, Flexion contracture, Short neck OMIM:309900
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Kyphosis, Hypotrophy of the small hand muscles, Scoliosis, Spond... OMIM:610443
Microphthalmia, Lenz Type
Kyphosis, Camptodactyly of finger, Scoliosis, Hyperlordosis ORPHA:568
Cowden Syndrome 1
Kyphosis, Scoliosis, Intention tremor OMIM:158350
Holt-Oram Syndrome
Kyphosis, Scoliosis ORPHA:392
Osteogenesis Imperfecta, Type Iv
Kyphosis, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Koolen-De Vries Syndrome
Vertebral fusion, Vertebral segmentation defect, Kyphosis, Scoliosis ORPHA:96169
Multiple Endocrine Neoplasia, Type Iib
Kyphosis, Myopathy, Scoliosis, Hyperlordosis OMIM:162300
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Noonan Syndrome 14
Kyphosis, Scapular winging, Short neck OMIM:619745
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly OMIM:616294
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Kyphosis, Flexion contracture, Abnormal form of the vertebral bodies, Irregular ... ORPHA:3042
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Bilateral camptodactyly, Scoliosis OMIM:619557
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Kyphosis, Flexion contracture, Scoliosis ORPHA:500055
Spondyloenchondrodysplasia
Kyphosis, Platyspondyly, Chorea, Spasticity ORPHA:1855
X-Linked Intellectual Disability, Snyder Type
Decreased muscle mass, Involuntary movements, Kyphoscoliosis, Kyphosis, Myoclonus, Camptodactyly ORPHA:3063
Marden-Walker Syndrome
Skeletal muscle atrophy, Camptodactyly of finger, Kyphosis, Abnormal form of the vertebral bodies... ORPHA:2461
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Retrocollis, Limb d... OMIM:601104
Prader-Willi Syndrome
Decreased muscle mass, Kyphosis, Poor gross motor coordination, Poor fine motor coordination, Sco... OMIM:176270
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Short neck, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Macro... OMIM:619194
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Speech apraxia, Ataxia, Kyphoscoliosis, Tremor, Kyphosis, Left ventricular noncompaction, Scolios... OMIM:300967
Mednik Syndrome
Neonatal death, Death in infancy, Death in childhood OMIM:609313
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th... OMIM:618223
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Basel-Vanagaite-Smirin-Yosef Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Kyphosis, Spasticity, Scoliosis ORPHA:464738
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Torticollis, Isometric tremor, Ataxia, Clonus, Cerebral palsy, Head titubation, Kyphos... OMIM:619475
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck ORPHA:140
Camurati-Engelmann Disease
Skeletal muscle atrophy, Ataxia, Facial palsy, Hyperlordosis, Kyphosis, Abnormality of the verteb... ORPHA:1328
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
2Q31.1 Microdeletion Syndrome
Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:251014
Sacral Agenesis With Vertebral Anomalies
Neonatal death OMIM:615709
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal death, Death in infancy OMIM:265120
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis, Scapular winging OMIM:616914
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... OMIM:259770
Alstrom Syndrome
Kyphosis, Scoliosis OMIM:203800
Marshall-Smith Syndrome
Thoracic scoliosis, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Hypertonia, Tho... OMIM:602535
Cardiofacioneurodevelopmental Syndrome
Kyphosis, Camptodactyly OMIM:619123
16Q24.3 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261250
Wolf-Hirschhorn Syndrome
Sacral dimple, Ataxia, Congenital diaphragmatic hernia, Kyphosis, Abnormal form of the vertebral ... ORPHA:280
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small hypothenar eminence, Lumbar hyperlordosis, Thenar muscle atrophy, Kyphosis, Contracture of ... ORPHA:2232
Osteogenesis Imperfecta, Type Viii
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis OMIM:610915
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis OMIM:610475
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Camptodactyly of finger, Kyphoscoliosis, Short neck, Kyphosis, Flexion cont... OMIM:143095
Cockayne Syndrome
Skeletal muscle atrophy, Ataxia, Action tremor, Kyphosis, Contractures of the large joints, Conge... ORPHA:191
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis OMIM:619244
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Short neck, Kyphosis, Scoliosis, Camptodactyly OMIM:616894
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... ORPHA:1724
Magel2-Related Prader-Willi-Like Syndrome
Kyphosis, Flexion contracture, Scoliosis ORPHA:398069
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death OMIM:619362
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Aspartylglucosaminuria
Kyphosis, Spasticity, Macroglossia, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebral... OMIM:208400
Monosomy 9Q22.3
Kyphosis, Abnormality of the vertebral column, Rhabdomyosarcoma, Short neck ORPHA:77301
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Kyphosis, Gait ataxia ORPHA:457359
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Scoliosis OMIM:618050
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Kyphosis, Flexion contracture, Scoliosis, Intention tremor ORPHA:90324
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Gait ataxia, Kyphosis, Scoliosis, Hyperlordosis OMIM:617011
Frank-Ter Haar Syndrome
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Prominent coccyx, Camptodactyly OMIM:249420
Atelis Syndrome 2
Kyphosis, Sacral dimple, Dysmetria OMIM:620185
Gaucher Disease Type 1
Kyphosis, Vertebral compression fracture ORPHA:77259
Classical-Like Ehlers-Danlos Syndrome Type 2
Kyphosis, Thoracic scoliosis, Sacral dimple, Kyphoscoliosis ORPHA:536532
Poland Syndrome
Congenital diaphragmatic hernia, Short neck, Kyphosis, Aplasia of the pectoralis major muscle, He... ORPHA:2911
Cohen Syndrome
Kyphosis, Scoliosis ORPHA:193
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Kyphosis, Scoliosis, Flexion contracture of finger, Abnormality of the... ORPHA:464311
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Speech apraxia, Sacral dimple, Hyperlordosis, Kyphosis, Scoliosis, Spondylol... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Speech apraxia, Sacral dimple, Hyperlordosis, Kyphosis, Scoliosis, Spondylol... ORPHA:363958
Stickler Syndrome
Skeletal muscle atrophy, Kyphosis, Hemiplegia/hemiparesis, Spinal canal stenosis, Abnormal form o... ORPHA:828
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis OMIM:610489
Autosomal Recessive Robinow Syndrome
Sacral dimple, Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmentation defect, Scol... ORPHA:1507
Dyrk1A-Related Intellectual Disability Syndrome
Kyphosis, Multiple joint contractures, Abnormality of the cervical spine, Scoliosis ORPHA:464306
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
Classic Homocystinuria
Kyphosis, Scoliosis, Hemiplegia/hemiparesis ORPHA:394
Mgat2-Cdg
Kyphosis, Scoliosis ORPHA:79329
Mucolipidosis Type Ii
Hip contracture, Diastasis recti, Kyphosis, Knee flexion contracture, Left ventricular hypertrophy ORPHA:576
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Scoliosis OMIM:619718
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Hyp... ORPHA:818
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis OMIM:239000
Osteogenesis Imperfecta
Ataxia, Cervical kyphosis, Kyphosis, Flexion contracture, Vertebral compression fracture, Abnorma... ORPHA:666
Mend Syndrome
Kyphosis, Sacral dimple, Limb hypertonia ORPHA:401973
Cockayne Syndrome A
Hip contracture, Kyphosis, Ataxia, Tremor OMIM:216400
Cdags Syndrome
Kyphosis OMIM:603116
Zttk Syndrome
Kyphosis, Flexion contracture, Hemivertebrae, Scoliosis, Spasticity OMIM:617140
Cowden Syndrome
Macroglossia, Kyphosis, Ataxia, Scoliosis ORPHA:201
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Kyphosis, Scoliosis OMIM:619005
Hajdu-Cheney Syndrome
Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Scoliosis, Biconcave vertebral bodies ORPHA:955
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:182210
Marfan Syndrome
Kyphosis, Skeletal muscle atrophy, Scoliosis, Spondylolisthesis ORPHA:558
Cockayne Syndrome B
Tremor, Kyphosis, Ataxia OMIM:133540
Mend Syndrome
Kyphosis, Sacral dimple, Hypertonia OMIM:300960
Cleidocranial Dysplasia 1
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
Williams Syndrome
Sacral dimple, Ataxia, Involuntary movements, Hyperlordosis, Tremor, Kyphosis, Abnormal form of t... ORPHA:904
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Sacral dimple, Ataxia, Kyphosis, Hypertonia, Scoliosis ORPHA:268261
Lenz-Majewski Hyperostotic Dwarfism
Kyphosis, Facial palsy, Scoliosis ORPHA:2658
Acromegaly
Macroglossia, Kyphosis, Cerebral palsy, Spinal canal stenosis ORPHA:963
Somatomammotropinoma
Macroglossia, Kyphosis, Cerebral palsy, Spinal canal stenosis ORPHA:314769
Oculocerebrorenal Syndrome Of Lowe
Kyphosis, Platyspondyly, Clonus, Scoliosis ORPHA:534
1P36 Deletion Syndrome
Camptodactyly of finger, Kyphosis, Hemiplegia/hemiparesis, Spinal canal stenosis, Myopathy, Scoli... ORPHA:1606
Lymphedema-Distichiasis Syndrome
Kyphosis OMIM:153400
Wolf-Hirschhorn Syndrome
Vertebral fusion, Sacral dimple, Decreased muscle mass, Kyphosis, Abnormal form of the vertebral ... OMIM:194190
Coffin-Siris Syndrome 1
Sacral dimple, Congenital diaphragmatic hernia, Kyphosis, Gait ataxia, Scoliosis, Spina bifida oc... OMIM:135900
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Scoliosis OMIM:619482
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis ORPHA:85199
Ramon Syndrome
Kyphosis, Scoliosis OMIM:266270
Occipital Horn Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:198
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Kyphosis, Platyspondyly, Scoliosis, Joint contracture of the hand OMIM:309000
Primrose Syndrome
Hip contracture, Skeletal muscle atrophy, Ataxia, Kyphosis, Flexion contracture, Knee flexion con... OMIM:259050
Occipital Horn Syndrome
Kyphosis, Platyspondyly OMIM:304150
17Q11 Microdeletion Syndrome
Abnormal central motor function, Rhabdomyosarcoma, Kyphosis, Abnormality of the vertebral column,... ORPHA:97685
Wrinkly Skin Syndrome
Kyphosis, Scapular winging, Hypoplasia of the musculature, Scoliosis OMIM:278250
Neurofibromatosis Type 1
Kyphosis, Ataxia, Scoliosis ORPHA:636
Cerebrocostomandibular Syndrome
Kyphosis ORPHA:1393
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Camptodactyly of finger, Kyphosis, Platyspondyly, Abnormality of the vertebral column, Abnormal v... ORPHA:2273
Proteus Syndrome
Decreased muscle mass, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Myofibrillar m... ORPHA:744
Sotos Syndrome
Hip contracture, Sacrococcygeal teratoma, Ankle flexion contracture, Tremor, Kyphosis, Bilateral ... ORPHA:821
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... OMIM:300106
Coffin-Lowry Syndrome
Kyphosis, Scoliosis, Lumbar kyphosis OMIM:303600
Turner Syndrome Due To Structural X Chromosome Anomalies
Kyphosis, Scoliosis, Short neck ORPHA:99413
Turner Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:881
Mosaic Monosomy X
Kyphosis, Scoliosis, Short neck ORPHA:99228
Monosomy X
Kyphosis, Scoliosis, Short neck ORPHA:99226
Viss Syndrome
Kyphosis, Macroglossia, Scoliosis, Contracture of the proximal interphalangeal joint of the 2nd t... OMIM:619472
Branchiooculofacial Syndrome
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Elbow flexion contracture OMIM:113620
Yunis-Varon Syndrome
Kyphosis, Anterior concavity of thoracic vertebrae OMIM:216340
Alström Syndrome
Thoracic scoliosis, Incoordination, Ataxia, Kyphosis, Poor fine motor coordination, Lumbar scoliosis ORPHA:64
Arthrogryposis, Distal, Type 1B
Foot joint contracture, Distal arthrogryposis, Camptodactyly, Arthrogryposis multiplex congenita,... 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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