Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
SH3 and cysteine rich domain 3
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Stac3 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 Stac3 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Stac3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Spinal muscular atrophy, Proximal lower limb amyotrophy, Proximal muscle weakness in lower limbs,... OMIM:158600
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Peroneal muscle atrophy, Increased muscle lipid content, Difficulty... ORPHA:609
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Nonaka Myopathy
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Gait disturbance, ... OMIM:605820
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Centrally nucleated skeletal muscle fibers, Scapu... OMIM:608358
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Muscle fiber tubular inclusions, Centrally nucleated skeletal muscl... ORPHA:2593
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Gait disturbance, Type 1 muscle fiber predominance, ... OMIM:618655
Welander Distal Myopathy
Steppage gait, Distal amyotrophy, Rimmed vacuoles OMIM:604454
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Centrally nucleated skeletal ... OMIM:608423
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Falls, Muscle fiber necrosis, Calf muscle hypertrophy, F... OMIM:618848
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Skeletal muscle at... ORPHA:611
Central Core Disease Of Muscle
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Type 1 muscle ... OMIM:117000
Vacuolar Neuromyopathy
Scapular winging, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle... OMIM:601846
Distal Myopathy, Welander Type
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Steppage gait, Difficulty walking, R... ORPHA:603
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Myopathy, Distal, 5
Distal amyotrophy, Facial palsy, Rimmed vacuoles, Myopathy, Muscle fiber splitting OMIM:617030
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Waddling gait, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber s... OMIM:609524
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Difficulty walking, Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness ... OMIM:601954
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Steppage gait, Hi... ORPHA:602
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated ... OMIM:613530
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter OMIM:618992
Myopathy, Scapulohumeroperoneal
Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contrac... OMIM:616852
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Ataxia, ... OMIM:500002
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Myopathy, Centronuclear, 1
EMG: myopathic abnormalities, Skeletal muscle hypertrophy, Flexion contracture, Centrally nucleat... OMIM:160150
Congenital Myasthenic Syndromes With Glycosylation Defect
Scoliosis, Scapular winging, Muscle fiber tubular inclusions, Ragged-red muscle fibers, High pala... ORPHA:353327
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Internally nucleated skeletal muscle fibers, Gait disturbance, Musc... ORPHA:178464
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Difficulty walking, Centrally nucleated skeletal muscle fibers, Central core regions in... ORPHA:401768
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle... OMIM:619178
Myopathy, Congenital Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, F... OMIM:618823
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, EMG: myopathic abnormalities, Tremor, Intrinsic hand muscle atrophy, Gait dist... ORPHA:276435
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Difficulty walking, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakn... ORPHA:86812
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Loss of ability to walk, Skeletal muscle fibrosis, Rimmed vacuo... ORPHA:34516
Striatonigral Degeneration, Infantile, Mitochondrial
Difficulty walking, Ragged-red muscle fibers OMIM:500003
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Scoliosis, Restrictive ventilatory defect, Arthrogryposis multiplex congenita, Kyphosis, Centrall... OMIM:618484
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Gait disturbance, Proximal muscle weakness in lower limbs, Waddling gait, Myopathy, Increased var... ORPHA:1878
Myopathy, Centronuclear, 2
Scoliosis, EMG: myopathic abnormalities, Hyperlordosis, Scapular winging, High palate, Flexion co... OMIM:255200
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Myopathy, Myofibrillar, 8
Scoliosis, Restrictive ventilatory defect, Scapular winging, Pectus excavatum, Centrally nucleate... OMIM:617258
Lethal Congenital Contracture Syndrome 3
Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures, Skeletal muscle ... OMIM:611369
Nemaline Myopathy 6
Gait disturbance, Myopathy, Nemaline bodies, Limb muscle weakness OMIM:609273
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Myositis... OMIM:615422
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Inability to walk, EMG: myopathic abnormalities, Facial hypotonia, Increased endomysial connectiv... ORPHA:266
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles, Steppage gait OMIM:600334
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, Increased endomysial connective tissue, Rimmed vacuoles, Fatty repl... OMIM:618940
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Lower limb muscle weakness, ... OMIM:254130
Marinesco-Sjogren Syndrome
Scoliosis, Gait ataxia, Short metatarsal, Limb ataxia, Kyphosis, Flexion contracture, Centrally n... OMIM:248800
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Lethargy, Internally nucleated skeletal muscle fibers ORPHA:324581
Salih Myopathy
Flexion contracture, Centrally nucleated skeletal muscle fibers, Facial palsy, Calf muscle hypert... OMIM:611705
Myopathy, Congenital, With Fiber-Type Disproportion
Scoliosis, Congenital hip dislocation, Centrally nucleated skeletal muscle fibers, Respiratory in... OMIM:255310
Myopathy, Myosin Storage, Autosomal Recessive
Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Centrally nucleated skeletal musc... OMIM:255160
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Limb-girdle muscular dystrophy, Unsteady gait, Calf muscle pseudohypertrophy, Waddling gait, Redu... ORPHA:280333
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Limb-girdle muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Myopathy, Abnorma... OMIM:615424
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Achilles t... OMIM:609200
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Proximal muscle weakness in lower limbs, Proximal musc... ORPHA:457050
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Arthrogryposis multiplex congenita, Spinal muscular atrop... ORPHA:1145
Spastic Paraplegia 18, Autosomal Recessive
Spastic paraplegia, Scoliosis, Upper limb spasticity, Kyphosis, Lower limb muscle weakness, Lower... OMIM:611225
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
EMG: myopathic abnormalities, Hand muscle weakness, Increased endomysial connective tissue, Trice... ORPHA:437572
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Scoliosis, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Pectus excavatum, Resp... OMIM:617066
Congenital Muscular Dystrophy, Ullrich Type
Scoliosis, EMG: myopathic abnormalities, Increased endomysial connective tissue, Torticollis, Lon... ORPHA:75840
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Scoliosis, EMG: myopathic abnormalities, Mildly elevated creatine kinase, Centrally nucleated ske... ORPHA:486815
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Proximal amyotrophy, Gait disturbance, Myopathy, Muscle fiber splitting OMIM:618129
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Flexion contracture, Increased variability in muscle fiber diameter OMIM:300717
Neuronopathy, Distal Hereditary Motor, Type Iib
Distal lower limb muscle weakness, Paresis of extensor muscles of the big toe, Paralysis OMIM:608634
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Lower limb muscle weakness, Abnormal lower motor neuron morphology, Hand mu... OMIM:607641
Nemaline Myopathy 2
Scoliosis, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Narrow mouth, Mildly... OMIM:256030
Merrf
Myopathy, Ragged-red muscle fibers, Ataxia ORPHA:551
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Increased intramyocellular lipid droplets, Weakness of facial musculature OMIM:619062
Finnish Upper Limb-Onset Distal Myopathy
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Steppage gait, Difficulty walking, W... ORPHA:399086
Alpha-B Crystallin-Related Late-Onset Myopathy
EMG: myopathic abnormalities, Facial diplegia, Difficulty walking, Muscle fiber inclusion bodies,... ORPHA:399058
Minicore Myopathy With External Ophthalmoplegia
Scoliosis, Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Centrally nucleat... OMIM:255320
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Spastic gait, Ataxia, Congenital diaphragmatic hernia ORPHA:972
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy ORPHA:270
Postsynaptic Congenital Myasthenic Syndromes
Scoliosis, EMG: myopathic abnormalities, Exertional dyspnea, Weakness of the intrinsic hand muscl... ORPHA:98913
Autosomal Recessive Centronuclear Myopathy
Hyperlordosis, Scapular winging, Narrow mouth, High palate, Centrally nucleated skeletal muscle f... ORPHA:169186
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscular dystrophy, Flexion contracture, Pelvic girdle muscle weakness, Shoulder girdle muscle we... OMIM:603511
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Type 1 muscle fiber predominance, Distal amyotrophy, Hip contracture,... OMIM:619042
Neuronopathy, Distal Hereditary Motor, Type Iia
Distal lower limb muscle weakness, Paresis of extensor muscles of the big toe, Paralysis OMIM:158590
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Unsteady gait, Waddling gait, Rimmed vacuoles, Myopathy, Increase... OMIM:612937
Myopathy, Distal, 1
Gait disturbance, Type 1 muscle fiber predominance, Amyotrophy of ankle musculature, Facial palsy... OMIM:160500
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Myopathy, Fatty replacement of skeletal m... OMIM:613204
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Calf muscle hypertrophy, Waddling gait, Rimmed vacuoles, Skeletal muscle atrophy OMIM:617760
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Increased variability i... OMIM:253601
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Muscular Dystrophy, Congenital, Merosin-Positive
Congenital muscular dystrophy, Flexion contracture, Shoulder girdle muscle weakness, Facial palsy... OMIM:609456
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapular winging, Flexion contracture, Back pain, Respiratory insufficiency, Spinal rigidity, Rim... OMIM:300696
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Flexion contracture, Ankle flexion contracture, Increased endomysial connecti... OMIM:617072
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paresis, Vocal cord paralysis, Distal amyotrophy OMIM:158580
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions OMIM:614750
Myasthenic Syndrome, Congenital, 14
Scoliosis, Hyperlordosis, Scapular winging, Mildly elevated creatine kinase, Flexion contracture,... OMIM:616228
Distal Myopathy With Anterior Tibial Onset
Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Tibialis muscle weakness, ... ORPHA:178400
Myasthenic Syndrome, Congenital, 5
Scoliosis, Hyperlordosis, Decreased muscle mass, Respiratory insufficiency, Respiratory insuffici... OMIM:603034
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis, Respiratory insufficiency due to muscle weakness, Optic atrophy, Foot dorsif... OMIM:617087
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Difficulty walking, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Loss of abili... OMIM:616812
Zebra Body Myopathy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Torticollis, Autophagic vacuoles, N... ORPHA:97240
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Difficulty walking, Flexion contrac... ORPHA:171442
Myopathy, Distal, 3
EMG: myopathic abnormalities, Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles, Joint contr... OMIM:610099
Congenital Muscular Dystrophy With Intellectual Disability
Scoliosis, Fatigable weakness of skeletal muscles, Skeletal muscle hypertrophy, Hypoglycosylation... ORPHA:370968
Nemaline Myopathy 4
Scapular winging, Difficulty walking, Flexion contracture, Type 1 muscle fiber predominance, Nema... OMIM:609285
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Childhood-Onset Nemaline Myopathy
Scoliosis, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Clumsiness, Narrow c... ORPHA:171439
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb muscle weakness, Upper limb amyotrophy, Waddling gait, Rimme... OMIM:616924
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers, Ataxia OMIM:545000
Distal Myopathy, Tateyama Type
EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Intrinsic hand muscle atr... ORPHA:488650
Arthrogryposis Multiplex Congenita 6
Arthrogryposis multiplex congenita, Akinesia, Death in infancy, Neonatal death, Nemaline bodies, ... OMIM:619334
Distal Myotilinopathy
EMG: myopathic abnormalities, Difficulty walking, Loss of ability to walk in first decade, Abnorm... ORPHA:98911
Nemaline Myopathy 7
Myofibrillar myopathy, Gait disturbance, Nemaline bodies, Minicore myopathy OMIM:610687
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... OMIM:618654
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Contractures of the joints of the lower limbs, Talipes equinovarus, Paralysis, Skeletal muscle at... OMIM:613710
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Death in infancy, Congenital con... OMIM:615368
Plectin-Related Limb-Girdle Muscular Dystrophy R17
EMG: myopathic abnormalities, Exertional dyspnea, Bronchiolitis, Pulmonary fibrosis, Elevated cir... ORPHA:254361
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle atrophy, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amy... OMIM:167320
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Increased intramyocellular lipid droplets, Ataxia, Increased variability in muscle fibe... OMIM:619065
Moderate Multiminicore Disease With Hand Involvement
Type 1 muscle fiber predominance, Facial palsy, Intrinsic hand muscle atrophy ORPHA:178145
Carnitine Deficiency, Myopathic
Myopathy, Reduced muscle carnitine level OMIM:212160
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Radioulnar synostosis, Abnormality of the philtrum, Finger syndactyly, Pectus carinatu... ORPHA:3268
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Difficulty walking, Quadriceps muscle weakness, Pelvic girdle muscle weakness, ... OMIM:603689
Glycogen Storage Disease Ixb
Increased muscle glycogen content OMIM:261750
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Kyphosis, Flexion contracture, Respiratory insufficiency due to muscle ... OMIM:300718
Pleoconial Myopathy With Salt Craving
Myopathy, Paralysis, Proximal amyotrophy OMIM:262900
Lethal Congenital Contracture Syndrome 7
Arthrogryposis multiplex congenita, Paralysis, Knee flexion contracture, Skeletal muscle atrophy,... OMIM:616286
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Fatigable weakness of respiratory muscles, Periodic hypokalemic... ORPHA:681
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Proximal l... OMIM:600175
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Autophagic vacuoles, Limb-girdle muscle weaknes... OMIM:608810
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Scoliosis, Arthrogryposis multiplex congenita, Respiratory insufficiency due to muscle weakness, ... OMIM:608930
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Scoliosis, Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion co... ORPHA:178148
Nemaline Myopathy 1
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scoliosis, Pectus excavatum, Flexio... OMIM:609284
Nemaline Myopathy 5
Tremor, Proximal amyotrophy, Type 1 muscle fiber predominance, Z-band streaming, Nemaline bodies,... OMIM:605355
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mu... OMIM:618138
Metatropic Dysplasia
Scoliosis, Arthrogryposis multiplex congenita, Narrow chest, Dumbbell-shaped metaphyses, Respirat... OMIM:156530
Myasthenic Syndrome, Congenital, 6, Presynaptic
Arthrogryposis multiplex congenita, Respiratory distress, Sudden episodic apnea, Generalized hypo... OMIM:254210
Scapuloperoneal Spinal Muscular Atrophy
Hip dysplasia, Scoliosis, Hyperlordosis, Scapular winging, Peroneal muscle atrophy, Amyoplasia, K... OMIM:181405
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Increased endomysial connective tis... ORPHA:353
Multiminicore Myopathy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Congenital muscular dystrop... ORPHA:598
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Generalized hypotonia due to defect at the neuromusc... OMIM:605809
Typical Nemaline Myopathy
Scoliosis, Arthrogryposis multiplex congenita, Narrow chest, Respiratory insufficiency, Elevated ... ORPHA:171436
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Difficulty walking, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Limb-girdle musc... OMIM:613818
Nemaline Myopathy 11, Autosomal Recessive
Scapular winging, Waddling gait, Nemaline bodies, Facial palsy OMIM:617336
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Gait ataxia, Dyspnea, Paralysis, Laryngeal stridor, Progressive cerebellar ataxia, Distal amyotro... OMIM:606183
Parastremmatic Dwarfism
Scoliosis, Genu valgum, Kyphosis, Flexion contracture, Short neck OMIM:168400
Congenital Arthrogryposis With Anterior Horn Cell Disease
Hip dysplasia, Rocker bottom foot, Abnormal anterior horn cell morphology, Arthrogryposis multipl... OMIM:611890
Bethlem Myopathy 2
Scapular winging, Kyphosis, Flexion contracture, Hip dislocation, Elevated circulating creatine k... OMIM:616471
Combined Oxidative Phosphorylation Deficiency 6
Involuntary movements, Increased serum pyruvate, Respiratory insufficiency due to muscle weakness... OMIM:300816
Myopathy, Proximal, With Ophthalmoplegia
Scapular winging, Congenital contracture, Muscle fiber inclusion bodies, Waddling gait, Myopathy OMIM:605637
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic hand muscles, Type 2 muscle f... OMIM:160565
Autosomal Dominant Centronuclear Myopathy
EMG: myopathic abnormalities, Mildly elevated creatine kinase, Centrally nucleated skeletal muscl... ORPHA:169189
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Pelvic girdle muscle weakness, Shoulder girdle muscle weakness, Abnormality o... ORPHA:34515
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Scoliosis, Postural tremor, Hand muscle weakness, Hand tremor, Poor fine motor coordination, Pare... ORPHA:99947
Bronchopulmonary Dysplasia
Pulmonary sequestration, Wheezing, Diaphragmatic paralysis, Respiratory distress, Abnormal respir... ORPHA:70589
Isolated Klippel-Feil Syndrome
Scoliosis, Spina bifida, Abnormal cranial nerve morphology, Abnormality of the vertebral column, ... ORPHA:2345
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles OMIM:615426
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Tremor, Proximal amyotrophy, Type 1 muscle fiber predominance, Shou... ORPHA:98902
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Increased intramyocellular lipid droplets, Ataxia OMIM:612016
Synaptic Congenital Myasthenic Syndromes
Scoliosis, Hand muscle weakness, Sleep apnea, Exertional dyspnea, Abnormal synaptic transmission ... ORPHA:98915
Amyotrophic Lateral Sclerosis
Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Dyspnea, Fat... ORPHA:803
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weakness, Facial ... OMIM:300580
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Rimmed vacuoles, Pelvic girdle muscle weakness ORPHA:263494
Roussy-Lévy Syndrome
Scoliosis, Genu valgum, Postural tremor, Gait ataxia, Clumsiness, Intrinsic hand muscle atrophy, ... ORPHA:3115
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Abnormality of the ribs, Hypoplastic cervical vertebrae, Narr... ORPHA:2635
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Scoliosis, Congenital muscular dystrophy, Mildly elevated creatine ki... OMIM:254090
Central Core Disease
Abnormal circulating creatine kinase concentration, Congenital hip dislocation, Central core regi... ORPHA:597
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Difficulty walking, Pelvic girdle muscle weakness, Waddling gait, Calf muscle hypertrophy, Myopat... ORPHA:119
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Macroglossia, Increased muscle lipid content, Muscle fiber hyp... OMIM:500009
Distal Nebulin Myopathy
EMG: myopathic abnormalities, Weakness of the intrinsic hand muscles, Nemaline bodies, Sternoclei... ORPHA:399103
Nemaline Myopathy 3
Scoliosis, EMG: myopathic abnormalities, Hyperlordosis, Arthrogryposis multiplex congenita, Hyper... OMIM:161800
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Inability to walk, EMG: myopathic abnormalities, Loss of ability to walk in early childhood, Gene... OMIM:609560
X-Linked Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Vocal cord paralysis, El... ORPHA:98863
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Scoliosis, Type 1 muscle fiber atrophy, Type 2 muscle fiber atrophy, Absent brainstem auditory re... OMIM:617519
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Torus palatinus, Clavicular scle... ORPHA:2790
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Impaired tandem gait, Dysmetria, Type 2 muscle fiber predominance OMIM:619028
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Macroglossia, Scapular winging, Limb-girdle muscular dystrophy, Hypoglycosylation of alpha-dystro... OMIM:616052
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Tremor, Abnormal nerve conduction velocity, Kyphosis, Ataxia, Distal lower limb amyotr... ORPHA:101075
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Dystonia 1, Torsion, Autosomal Dominant
Torsion dystonia, Tremor, Abnormal posturing, Blepharospasm, Writer's cramp, Torticollis OMIM:128100
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Scoliosis, Decreased motor nerve conduction velocity, Split hand, Flexion contracture, Nemaline b... OMIM:607684
Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Vocal cord paralysis, El... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Vocal cord paralysis, El... ORPHA:98853
Cap Myopathy
Abnormal muscle fiber morphology, Fatiguable weakness of proximal limb muscles, Pectus excavatum,... ORPHA:171881
Oculopharyngodistal Myopathy
Abnormality of masseter muscle, Distal lower limb amyotrophy, High palate, High, narrow palate, P... ORPHA:98897
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Macroglossia, Scoliosis, Hyperlordo... OMIM:606612
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Overlapping fingers, Scoliosis, Arthrogryposis multiplex congenita, Congenital hip dislocation, K... OMIM:618291
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Fatigable weakness, Type 2 muscle fiber atrophy, Intermittent episodes of respiratory insufficien... OMIM:601462
Nemaline Myopathy 8
Flexion contracture, Death in infancy, Nemaline bodies, Facial palsy, Myofibrillar myopathy OMIM:615348
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Lower limb spasticity, Upper limb amyotrophy, Kyphoscoli... ORPHA:496689
Congenital Myopathy With Myasthenic-Like Onset
EMG: myopathic abnormalities, Scapular winging, Gait disturbance, Type 1 muscle fiber predominanc... ORPHA:424107
Myopathy, Myofibrillar, 6
Scoliosis, EMG: myopathic abnormalities, Diaphragmatic paralysis, Muscular dystrophy, Respiratory... OMIM:612954
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Scoliosis, Oligodontia, Short metatarsal, Short phalanx of finger, Bulbous nos... OMIM:170390
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting OMIM:609452
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Mildly elevated creatine kinase, Congenital muscular torticollis, High, narrow palate,... ORPHA:536516
Myopathy, Myofibrillar, 7
Scoliosis, Type 2 muscle fiber predominance, Thoracic kyphosis, Flexion contracture, Tongue atrop... OMIM:617114
Classic Glucose Transporter Type 1 Deficiency Syndrome
Apraxia, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Central apnea, Myoclonus, Extrapyram... ORPHA:71277
Mitochondrial Complex I Deficiency, Nuclear Type 25
Intrauterine growth retardation, Myopathy, Nemaline bodies OMIM:618246
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Macroglossia, Scapular winging, Hypoglycosylation of alpha-dystroglycan, Proximal muscle weakness... ORPHA:352479
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Kyphosis, Flexion contracture, Generalized amyotrophy, Spinal rigidity, Myopathy OMIM:618323
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Vocal cord paresis, Split hand, Flexion contracture, D... OMIM:607706
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:617070
Acute Peripheral Arterial Occlusion
Limb muscle weakness, Paralysis ORPHA:90064
Diastrophic Dysplasia
Costal cartilage calcification, Hypoplastic cervical vertebrae, Hitchhiker thumb, Short finger, I... OMIM:222600
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hyperlordosis, EMG: myopathic abnormalities, Abnormality of long bone morphology, Abnormality of ... ORPHA:52430
Adult-Onset Distal Myopathy Due To Vcp Mutation
EMG: myopathic abnormalities, Tremor, Scapular winging, Intrinsic hand muscle atrophy, Decreased ... ORPHA:329478
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Ataxia, Skeletal muscle atrophy ORPHA:480
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion contracture OMIM:607855
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Scoliosis, Camptodactyly of finger, Restrictive ventilatory defect, Diaphragmatic paralysis, Resp... OMIM:614399
Neuropathy, Hereditary Motor And Sensory, Russe Type
Scoliosis, Decreased motor nerve conduction velocity, Paralysis OMIM:605285
Combined Oxidative Phosphorylation Deficiency 49
Difficulty walking, Ragged-red muscle fibers OMIM:619024
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy OMIM:611556
Poland Syndrome
Absence of pectoralis minor muscle, Hypoplasia of serratus anterior muscle, Hypoplasia of latissi... OMIM:173800
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal sputum, Dyspnea, Abnormal pleura morphology, Cough, Abnorma... ORPHA:2357
Brachyolmia Type 1, Hobaek Type
Scoliosis, Squared-off platyspondyly, Short iliac bones, Pectus carinatum, Flattened proximal rad... OMIM:271530
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Anteverted nares, Pectus carinatum, Short finger, Kyphosis, Respiratory insufficie... OMIM:313420
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Carious teeth, Small epiphyses, High palate, Short femoral neck, Advanced ossification... OMIM:618363
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Tremor, Kyphosis, Ataxia, Skeletal muscle atrophy, Decreased nerve conduction velocity ORPHA:101078
Acrocapitofemoral Dysplasia
Scoliosis, Narrow chest, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finge... OMIM:607778
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Pectus c... OMIM:609052
Ullrich Congenital Muscular Dystrophy 2
Congenital muscular dystrophy, Flexion contracture, Facial palsy, Increased variability in muscle... OMIM:616470
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Type 1 muscle fiber atrophy, Achilles tendon contracture, Waddling gait, Decreased cervical spine... OMIM:310300
Congenital Muscular Dystrophy Without Intellectual Disability
EMG: myopathic abnormalities, Proximal amyotrophy, Difficulty walking, Congenital muscular dystro... ORPHA:370980
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Abnormal muscle fiber morphology, Pectus carinatum, Abnormal palate morphology, Fa... ORPHA:3068
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Truncal ataxia, Difficulty walking, Muscular dystrophy, Limb-girdle muscular dystrophy, Waddling ... ORPHA:369840
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Gait disturbance, Myopathy, Ataxia, Increased variability in muscle fiber diameter OMIM:125250
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
Creatine Phosphokinase, Elevated Serum
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Muscular dystrophy, Inflammatory ... OMIM:123320
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Heart Defects-Limb Shortening Syndrome
Abnormality of the ribs, Narrow chest, Mesomelic/rhizomelic limb shortening, Abnormal form of the... ORPHA:1354
Bethlem Myopathy
Reduced muscle collagen VI, EMG: myopathic abnormalities, Scoliosis, Muscular dystrophy, Interpha... ORPHA:610
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Short neck, Limb muscle weakness, Atlantoaxial instability, Genu valgum, S... ORPHA:239
Neutral Lipid Storage Disease With Myopathy
Difficulty walking, Myopathy, Increased muscle lipid content OMIM:610717
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Scapular winging, Ataxia, Bradykinesia, Action tremor, Facial palsy, Myopat... ORPHA:254886
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, Arthrogryposis multiplex congenita, Camptodactyly, Flexion contracture, Kypho... OMIM:618393
Hereditary Motor And Sensory Neuropathy, Type Iic
Shoulder girdle muscle atrophy, Scoliosis, Vocal cord paresis, Stridor, Down-sloping shoulders, I... OMIM:606071
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Kyp... ORPHA:40
Spastic Paraplegia 20, Autosomal Recessive
Spastic paraplegia, Spastic paraparesis, Drooling, Upper limb spasticity, Camptodactyly, Knee clo... OMIM:275900
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Inability to walk, Scapular winging, Proximal amyotrophy, Difficulty walking, Limb-girdle muscula... ORPHA:206559
Laing Early-Onset Distal Myopathy
EMG: myopathic abnormalities, Foot dorsiflexor weakness, Weakness of orbicularis oculi muscle, Ga... ORPHA:59135
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Decreased plasma carnitine, Macroglossia, Respiratory distress... ORPHA:254864
Asbestos Intoxication
Clubbing of fingers, Wheezing, Exertional dyspnea, Cyanosis, Ground-glass opacification, Late ins... ORPHA:2302
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Overlapping toe, Camptodactyly, Kyphosis, Short thumb, Clinodactyly of the 5th finger OMIM:618453
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Elevated circulating cre... ORPHA:98855
Hereditary Neuropathy With Liability To Pressure Palsies
Scoliosis, Decreased motor nerve conduction velocity, Vocal cord paralysis, Respiratory insuffici... ORPHA:640
Congenital Multicore Myopathy With External Ophthalmoplegia
Scoliosis, Abnormal respiratory system physiology, Muscular dystrophy, Pneumonia, Muscle fiber hy... ORPHA:98905
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... ORPHA:174
Wieacker-Wolff Syndrome
Scoliosis, Arthrogryposis multiplex congenita, Narrow chest, Camptodactyly, High palate, Short ne... OMIM:314580
Gm1-Gangliosidosis, Type Iii
Scoliosis, Platyspondyly, Flared iliac wing, Slurred speech, Kyphosis, Anterior beaking of lumbar... OMIM:230650
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Aplasia/Hypoplasia of the radius, Abnormal scapula morphology, Aplasia/hypopla... ORPHA:2141
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Flared iliac wing, Thoracic kyphosis, Small epiphyses, High palate, Short femoral neck, Short nec... OMIM:300232
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers OMIM:616794
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Respiratory insufficiency, Spina bifida occulta, Congenital diaphragmatic hernia, Abno... ORPHA:2311
Brown-Vialetto-Van Laere Syndrome 1
Scoliosis, Clumsiness, Stridor, Respiratory distress, Dyspnea, Kyphosis, Knee clonus, Ankle clonu... OMIM:211530
Intermediate Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Difficulty walking, Flexion con... ORPHA:171433
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Scoliosis, Decreased motor nerve conduction velocity, Vocal cord paresis, Skeletal muscle atrophy... OMIM:614895
Acro-Renal-Mandibular Syndrome
Scoliosis, Split hand, Aplasia/Hypoplasia of the tongue, Hemivertebrae, Oral cleft, Congenital di... ORPHA:958
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Tremor, Lower limb muscle weakness, Myopathy, Fatty replacement of ... ORPHA:397744
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Scoliosis, Carious teeth, Phalangeal dislocation, Slender long bones with narrow diaphyses, Ovoid... ORPHA:536467
Spastic Paraplegia Type 7
Scoliosis, Abnormal pyramidal sign, Lower limb hypertonia, Lower limb muscle weakness, Spastic ga... ORPHA:99013
Diastrophic Dwarfism
Scoliosis, Respiratory insufficiency, Abnormality of the metacarpal bones, Abnormality of the rib... ORPHA:628
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Tremor, Paraparesis, Skeletal muscle hypertrophy, Abnormal nerve conduction velocity, ... ORPHA:99014
Rigid Spine Muscular Dystrophy 1
Scoliosis, Restrictive ventilatory defect, Type 1 and type 2 muscle fiber minicore regions, Muscu... OMIM:602771
Waardenburg Syndrome Type 3
Spastic paraplegia, Camptodactyly of finger, Acrocyanosis, Abnormality of finger, Synostosis of c... ORPHA:896
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
EMG: myopathic abnormalities, Gait ataxia, Limb ataxia, Bradykinesia, Generalized amyotrophy, Fac... OMIM:258450
Snakebite Envenomation
Pseudobulbar paralysis, Rhabdomyolysis, Hyponatremia, Paralysis, Respiratory paralysis, Epistaxis... ORPHA:449285
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Shield chest, Carpal bone hypoplasia, Camptodactyly, Thoracic kyphos... OMIM:223800
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Scoliosis, Open mouth, Congenital muscular dystrophy, Muscular dystrophy, Respiratory insufficien... ORPHA:258
Brown-Vialetto-Van Laere Syndrome 2
Scoliosis, Clumsiness, Split hand, Ataxia, Respiratory insufficiency, Generalized amyotrophy, Fac... OMIM:614707
Classic Multiminicore Myopathy
Hip dysplasia, Scoliosis, Restrictive ventilatory defect, Increased muscle lipid content, Congeni... ORPHA:324604
Craniofrontonasal Dysplasia
Scoliosis, Camptodactyly of finger, Abnormal clavicle morphology, Hand polydactyly, Finger syndac... ORPHA:1520
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Gait ataxia, Action tremor, Distal amyotrophy, Upper l... OMIM:180800
Glut1 Deficiency Syndrome 1
Hemiparesis, Paralysis, Ataxia, Myoclonus, Babinski sign, Choreoathetosis, Spasticity OMIM:606777
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Scoliosis, Hyperlordosis, Restrictive ventilatory defect, Muscular dystrophy, Flexion contracture... OMIM:253700
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dystonia, Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria i... OMIM:252011
Zimmermann-Laband Syndrome 3
Broad nasal tip, Thick lower lip vermilion, Absent distal phalanx of the 2nd toe, Kyphosis, Flexi... OMIM:618658
Anauxetic Dysplasia 2
Hyperlordosis, Macroglossia, Hypoplasia of the femoral head, Shield chest, Ovoid vertebral bodies... OMIM:617396
Rhizomelic Chondrodysplasia Punctata, Type 5
Talipes equinovarus, Metaphyseal irregularity, Swan neck-like deformities of the fingers, Metaphy... OMIM:616716
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Arthrogryposis multiplex congenita, Decreased muscle mass, Respiratory insufficiency due to muscl... OMIM:608931
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations, Kyphoscoliosis, Spinal muscular atrophy, Proximal amyotrophy OMIM:271200
Congenital Myasthenic Syndrome
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Congenital hip dislocation, Hig... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Congenital hip dislocation, Hig... ORPHA:98914
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Sporadic Infantile Bilateral Striatal Necrosis
Dystonia, Gait ataxia, Abnormal posturing, Hypomimic face, Gait disturbance, Resting tremor, Brad... ORPHA:225147
Juvenile Amyotrophic Lateral Sclerosis
Inability to walk, Dystonia, Axial dystonia, Difficulty walking, Contractures of the joints of th... ORPHA:300605
Multiple Epiphyseal Dysplasia With Robin Phenotype
Scoliosis, Metatarsus adductus, Prominent proximal interphalangeal joints, Short femoral neck, Fl... OMIM:601560
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Congenital foot contractures, Kyphosis, Oculomotor apraxia, Distal amyotrophy, Clinoda... ORPHA:3454
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Inability to walk, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Ataxia OMIM:615350
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Respiratory distress, Ataxia, Distal amyotrophy, Kyphoscoliosis OMIM:619099
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Hypertonia, Respiratory insufficiency, Tooth agenesis, Abnormal hip bone morphology, Congenital d... ORPHA:1166
Becker Nevus Syndrome
Shoulder girdle muscle atrophy, Scoliosis, Abnormality of tibia morphology, Pectus carinatum, Kyp... ORPHA:64755
Neurogenic Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:100073
Fibrochondrogenesis 1
Narrow mouth, Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, Short neck, Thin c... OMIM:228520
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure, Paralysis ORPHA:132
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Scoliosis, Camptodactyly of finger, Abnormality of peripheral nerve conduction, Kyphosis, Abnorma... ORPHA:48431
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Preaxial hand polydactyly, Abnormal thumb morphology, Anomalous pulmonary venous re... ORPHA:1120
Jeune Syndrome
Abnormal clavicle morphology, Abnormality of the ribs, Short thorax, Postaxial hand polydactyly, ... ORPHA:474
Mosaic Trisomy 14
Camptodactyly of finger, Narrow chest, Wide mouth, Wide nasal bridge, Ectopic anus, Cleft palate,... ORPHA:1703
Hyperkalemic Periodic Paralysis
Skeletal muscle hypertrophy, Hypertonia, Periodic hyperkalemic paralysis, Death in infancy, Flexi... ORPHA:682
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Upper limb postural tremor ORPHA:477774
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Oligodontia, Pectus carinatum, Everted lower lip vermilion, Kyphosis, Pectus excavatum... ORPHA:276630
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Abnormal form of the ver... ORPHA:1801
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Preaxial hand polydactyly, Postaxial hand polydactyly, Broad th... OMIM:175700
Charcot-Marie-Tooth Disease Type 4D
Postural tremor, Decreased motor nerve conduction velocity, Decreased amplitude of sensory action... ORPHA:99950
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Vocal Cord And Pharyngeal Distal Myopathy
Vocal cord paresis, Abnormality of the extraocular muscles, Aspiration, Distal upper limb amyotro... ORPHA:600
Hypokalemic Periodic Paralysis, Type 2
Myopathy, Hypokalemia, Periodic paralysis OMIM:613345
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Scoliosis, Limb dysmetria, Head tremor, Upper limb spasticity, Kyphosis, Knee... OMIM:614409
Cooper-Jabs Syndrome
Scoliosis, Camptodactyly of finger, Anteverted nares, Respiratory insufficiency, Abnormal hip bon... ORPHA:1488
3M Syndrome
Scoliosis, Abnormal dental enamel morphology, Congenital hip dislocation, Bulbous nose, Enlarged ... ORPHA:2616
Craniodiaphyseal Dysplasia
Wide nasal bridge, Abnormality of the ribs, Optic atrophy, Diaphyseal thickening, Depressed nasal... ORPHA:1513
Dysosteosclerosis
Oligodontia, Narrow chest, Natal tooth, High palate, Hypoplastic vertebral bodies, Narrow iliac w... OMIM:224300
Fibrosis Of Extraocular Muscles, Congenital, 3C
Thin upper lip vermilion, Kyphosis, Pectus excavatum, Congenital fibrosis of extraocular muscles OMIM:609384
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Abnormality of the ribs, Short philtrum, Platyspondyly, Downturned ... ORPHA:93267
Mohr-Tranebjaerg Syndrome
Dystonia, Tremor, Abnormal posturing OMIM:304700
Sprengel Deformity
Scoliosis, Cervical segmentation defect, Shoulder muscle hypoplasia, Sprengel anomaly, Hemiverteb... OMIM:184400
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Kyphosis, Elevated circulating creatine kinase concentration, Respiratory insufficiency ... ORPHA:352447
Crisponi Syndrome
Scoliosis, Camptodactyly of finger, Long philtrum, Narrow mouth, Hypertonia, Flexion contracture,... ORPHA:1545
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Carpal bone... OMIM:177170
Femoral-Facial Syndrome
Hip dysplasia, Long philtrum, Scoliosis, Short femur, Radioulnar synostosis, Short nose, Sprengel... ORPHA:1988
Hyperekplexia 4
Camptodactyly, Hypertonia, Flexion contracture, High palate, Distal arthrogryposis, Respiratory f... OMIM:618011
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Macroglossia, Restrictive ventilatory defect, Reduced forced vital capa... OMIM:607155
Myotonia With Skeletal Abnormalities And Mental Retardation
Genu valgum, Pectus carinatum, Skeletal muscle hypertrophy, Bell-shaped thorax, Firm muscles, Kyp... OMIM:255710
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Dystonia, Increased intramyocellular lipid droplets, Spastic ataxia, Ataxia, ... OMIM:614487
Acute Interstitial Pneumonia
Bronchiectasis, Elevated circulating creatinine concentration, Reticulonodular pattern on pulmona... ORPHA:79126
Spinocerebellar Ataxia Type 18
Gait ataxia, Head tremor, Titubation, Dysmetria, Skeletal muscle atrophy ORPHA:98771
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Long philtrum, Short nose, Kyphosis, High palate, Myopathy, Generalized limb muscle at... ORPHA:2598
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Scoliosis, Long philtrum, Short philtrum, Narrow mouth, Kyphosis, Abnormality of the dentition, A... OMIM:618443
Autosomal Dominant Spondylocostal Dysostosis
Scoliosis, Hyperlordosis, Short thorax, Posterior rib fusion, Anteverted nares, Vertebral segment... ORPHA:1797
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers, Bradykinesia, Dystonia OMIM:614924
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Papilledema, Wide nasal bridge, Depressed nasal bridge, Optic atrophy, Facial dip... OMIM:122860
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Dumbbell-shaped humerus, ... ORPHA:1836
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Frontometaphyseal Dysplasia 1
Scoliosis, Partial fusion of carpals, Long phalanx of finger, Wrist flexion contracture, Skeletal... OMIM:305620
Poliomyelitis
Paralytic ileus, Fatigable weakness of respiratory muscles, Myelitis, Abnormal motor nerve conduc... ORPHA:2912
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Amyotrophic lateral sclerosis, Parkinsonism, Abnormal lower motor neuron morphology, Paralysis OMIM:105500
Autism Spectrum Disorder Due To Auts2 Deficiency
Scoliosis, Short philtrum, Arthrogryposis multiplex congenita, Narrow mouth, Hypertonia, Kyphosis... ORPHA:352490
Mental Retardation, Autosomal Dominant 26
Scoliosis, Short philtrum, Arthrogryposis multiplex congenita, Narrow mouth, Hypertonia, Kyphosis... OMIM:615834
Lethal Congenital Contracture Syndrome Type 1
Abnormal form of the vertebral bodies, Slender long bone, Pulmonary hypoplasia, Abnormal hip bone... ORPHA:1486
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Anteverted nares, Pierre-Robin sequence, Rhizomelia, Camptodactyly, High palate, Smoot... OMIM:611209
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Hip dysplasia, Dislocated radial head, Scoliosis, Platyspondyly, Cardiorespiratory arrest, Abnorm... ORPHA:93359
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
Uruguay Faciocardiomusculoskeletal Syndrome
Scoliosis, Congenital hip dislocation, Dislocation of toes, Marked muscular hypertrophy, Camptoda... OMIM:300280
Coffin-Lowry Syndrome
Scoliosis, Sleep apnea, Narrow palate, Open mouth, Hypertonia, Short distal phalanx of finger, Sk... ORPHA:192
Fibrochondrogenesis
Camptodactyly of finger, Abnormality of the ribs, Broad ribs, Narrow mouth, Abnormal form of the ... ORPHA:2021
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Cough, Elevated bronchoalveolar lavage fluid neutrophil proportion, Ground-glass opacif... OMIM:610978
Tracheobronchopathia Osteochondroplastica
Esophagitis, Abnormal sputum, Wheezing, Tracheal calcification, Exertional dyspnea, Bronchitis, P... ORPHA:3348
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Platyspondyly, Rhizomelia, Thora... OMIM:602271
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the mouth, Dyspnea, Abnormality of the philtrum, Respiratory distress, Abnormal fo... ORPHA:2759
Cartilage-Hair Hypoplasia
Scoliosis, Hypocalcemia, Narrow chest, Spinal dysraphism, Respiratory insufficiency, Abnormality ... ORPHA:175
Xp22.13P22.2 Duplication Syndrome
Scoliosis, Broad nasal tip, Recurrent upper respiratory tract infections, Pectus excavatum, 2-3 t... ORPHA:284180
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Skeletal muscle... OMIM:616867
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Mesomelic arm shortening, Distal ulnar epiphyseal stippling, Scoliosis, Platyspondyly, Broad toe,... OMIM:609616
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Toe syndactyly, Postaxial hand polydactyly, Broad thumb, Finger syndac... ORPHA:380
Mitochondrial Dna Depletion Syndrome 11
Dyspnea, Proximal amyotrophy, Kyphosis, Respiratory insufficiency, Generalized amyotrophy, Facial... OMIM:615084
Severe Congenital Nemaline Myopathy
Arthrogryposis multiplex congenita, Facial diplegia, Flexion contracture, Abnormal thorax morphol... ORPHA:171430
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Spastic paraplegia, Long philtrum, Decreased motor nerve conduction velocity, Scoliosis, Decrease... OMIM:619026
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
EMG: myopathic abnormalities, Gait ataxia, Rhabdomyolysis, Resting tremor, Bradykinesia, Facial p... OMIM:157640
Desbuquois Dysplasia 1
Scoliosis, Short metatarsal, Narrow mouth, Narrow chest, Phalangeal dislocation, Broad first meta... OMIM:251450
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of limb bone morphology, Scoliosis, Cervicomedullary schisis, Sprengel anomaly, Conge... OMIM:118100
Sialidosis Type 2
Tremor, Short thorax, Dyspnea, Pectus carinatum, Kyphosis, Flexion contracture, Ataxia, Skeletal ... ORPHA:87876
Short-Rib Thoracic Dysplasia 12
Narrow chest, Natal tooth, Horizontal ribs, Intestinal malrotation, Hamartoma of tongue, Respirat... OMIM:269860
Renpenning Syndrome
Short philtrum, Abnormal thumb morphology, Narrow mouth, Pectus excavatum, Sprengel anomaly, Anal... ORPHA:3242
Porphyria, Acute Hepatic
Paralysis, Respiratory paralysis OMIM:612740
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Abnormal posturing, Gait disturbance, Toe walking, Opisthotonus, Generalized d... ORPHA:216866
Wieacker-Wolff Syndrome, Female-Restricted
Scoliosis, Rocker bottom foot, Long philtrum, Drooling, Downturned corners of mouth, Narrow chest... OMIM:301041
Japanese Encephalitis
Pill-rolling tremor, Abnormality of extrapyramidal motor function, Hypertonia, Respiratory paraly... ORPHA:79139
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short ... OMIM:608940
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Postaxial hand polydactyly, Short femur, Short phalanx of finger, Still... OMIM:200700
Farber Disease
Respiratory distress, Recurrent upper respiratory tract infections, Paraparesis, Short finger, Fl... ORPHA:333
Stuve-Wiedemann Syndrome
Pursed lips, Scoliosis, Abnormal dental enamel morphology, Short phalanx of finger, Respiratory i... OMIM:601559
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormality of the ribs ORPHA:2435
Familial Cervical Artery Dissection
Facial palsy, Paralysis ORPHA:36382
Glycogen Storage Disease Due To Aldolase A Deficiency
EMG: myopathic abnormalities, Decreased muscle mass, Viral infection-induced rhabdomyolysis, Exer... ORPHA:57
Mullegama-Klein-Martinez Syndrome
Scoliosis, Long philtrum, Short philtrum, Bulbous nose, Polydactyly, Smooth philtrum, Wide nasal ... OMIM:301022
Spondyloepimetaphyseal Dysplasia, Irapa Type
Genu valgum, Abnormality of the ribs, Upper limb undergrowth, Short metatarsal, Platyspondyly, Hy... ORPHA:93351
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Dyspnea, Widening of cervical spinal canal, Respiratory insufficiency, Nemaline bodies, Cervical ... OMIM:606842
Alpha-Mannosidosis
Hip dysplasia, Open bite, Macroglossia, Scoliosis, Narrow palate, Hypoplastic inferior ilia, Kyph... ORPHA:61
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Scoliosis, Hip subluxation, Metaphyseal irregularity, Laryngotracheomalacia, Delayed epiphyseal o... ORPHA:93360
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Abnormal posturing, Incoordination, Chorea, Slurred speech, Poor fine mo... ORPHA:157941
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Long philtrum, Bulbous nose, Underdeveloped nasal alae, Everted lower lip vermilion, Flexion cont... OMIM:616549
Glycogen Storage Disease Due To Acid Maltase Deficiency
Scoliosis, EMG: myopathic abnormalities, Sleep apnea, Facial hypotonia, Exertional dyspnea, Lower... ORPHA:365
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Arthrogryposis, Distal, Type 3
Arthrogryposis multiplex congenita, Short phalanx of finger, Congenital hip dislocation, High pal... OMIM:114300
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Atelectasis, Right ventricular hypertrophy, Recurrent pneumonia OMIM:268500
Three M Syndrome 2
Prominent calcaneus, Long philtrum, Delayed eruption of teeth, Scapular winging, Hyperlordosis, S... OMIM:612921
Spinocerebellar Ataxia Type 3
Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Progressive ce... ORPHA:98757
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Gait ataxia, Macroglossia, Bulbous nose, Kyphosis, Wide mouth, Sandal gap, Small hand, Di... OMIM:300354
Mcdonough Syndrome
Open bite, Scoliosis, Short philtrum, Underdeveloped nasal alae, Abnormal palate morphology, Kyph... ORPHA:2471
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Dental crowding, Kyphosis, 2-3 toe syndactyly, Thick vermilion border, Hypodontia, Cl... OMIM:617061
Developmental Malformations-Deafness-Dystonia Syndrome
Scoliosis, Macroglossia, Hypoplastic scapulae, Kyphosis, Achalasia, Oral cleft, Death in early ad... ORPHA:79107
Schwartz-Jampel Syndrome
Pursed lips, Scoliosis, Arthrogryposis multiplex congenita, Narrow mouth, Hypertonia, Odontogenic... ORPHA:800
Axial Spondylometaphyseal Dysplasia
Proximal femoral metaphyseal irregularity, Platyspondyly, Short nose, Rhizomelia, Thoracic hypopl... ORPHA:168549
Ataxia-Oculomotor Apraxia Type 4
Muscular dystrophy, Progressive distal muscular atrophy, Oculomotor apraxia, Ataxia, Distal lower... ORPHA:459033
Distal 7Q11.23 Microduplication Syndrome
Attention deficit hyperactivity disorder, Congenital diaphragmatic hernia ORPHA:261102
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Thoracic hypoplasia, Irregular epiphyses, Ovoid vertebral bodies, Narrow iliac win... OMIM:608728
Multiple Pterygium-Malignant Hyperthermia Syndrome
Scoliosis, Arthrogryposis multiplex congenita, Narrow mouth, Downturned corners of mouth, Congeni... ORPHA:2215
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Metaphyseal irregularity, Narrow chest, Hypoplastic ilia, Short greater sciatic no... OMIM:187601
Mucopolysaccharidosis, Type Vi
Hip dysplasia, Genu valgum, Metaphyseal widening, Macroglossia, Prominent sternum, Broad ribs, Me... OMIM:253200
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Split hand, Distal amyotrophy, Kyphoscoliosis, Talipes... OMIM:607831
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Anterior rib cupping, Genu valgum, Delayed pubic bone ossification, Club-shaped proximal femur, S... OMIM:184250
Achondroplasia
Bowing of the legs, Flat acetabular roof, Narrow greater sciatic notch, Depressed nasal bridge, S... ORPHA:15
Cdkl5-Deficiency Disorder
Scoliosis, Broad proximal phalanges of the hand, Abnormal respiratory system physiology, Everted ... ORPHA:505652
Lethal Congenital Contracture Syndrome 1
Arthrogryposis multiplex congenita, Widening of cervical spinal canal, Abnormal thorax morphology... OMIM:253310
Sialidosis Type 1
Scoliosis, Tremor, Short thorax, Abnormal form of the vertebral bodies, Pectus carinatum, Slurred... ORPHA:812
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Gait ataxia, Congenital diaphragmatic hernia ORPHA:438134
Mucopolysaccharidosis, Type Iva
Scoliosis, Carious teeth, Constricted iliac wing, Ovoid vertebral bodies, Cervical myelopathy, Gr... OMIM:253000
15Q24 Microdeletion Syndrome
Scoliosis, Long philtrum, Prominent nasal bridge, Abnormal thumb morphology, Myelomeningocele, Na... ORPHA:94065
Leukodystrophy, Hypomyelinating, 5
Inability to walk, Intention tremor, Loss of ability to walk, Lower limb muscle weakness, Truncal... OMIM:610532
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Myopathy, Kyphosis OMIM:618234
Mucopolysaccharidosis Type 4
Scoliosis, Genu valgum, Abnormality of the ribs, Carious teeth, Abnormal dental enamel morphology... ORPHA:582
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Scoliosis, Epiphyseal stippling, Hip subluxation, Short phalanx of finger, Tracheal calcification... OMIM:271665
Mucopolysaccharidosis, Type Ivb
Scoliosis, Carious teeth, Constricted iliac wing, Ovoid vertebral bodies, Cervical myelopathy, Gr... OMIM:253010
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Scoliosis, Abnormal dental enamel morphology, Bulbous nose, Anteverted nares, Abnormal form of th... ORPHA:2180
Amyotrophic Lateral Sclerosis 21
Abnormal nasopharynx morphology, Abnormal lower motor neuron morphology, Amyotrophic lateral scle... OMIM:606070
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy OMIM:540000
Immune-Mediated Necrotizing Myopathy
EMG: myopathic abnormalities, Scapular winging, Fatiguable weakness of proximal limb muscles, Abn... ORPHA:206569
Cleidocranial Dysplasia
Open bite, Scoliosis, Carious teeth, Abnormal dental enamel morphology, Sleep apnea, Narrow chest... ORPHA:1452
Rabies
Recurrent pharyngitis, Excessive salivation, Vocal cord paresis, Cerebral palsy ORPHA:770
Myofibrillar Myopathy 10
EMG: myopathic abnormalities, Flexion contracture of finger, Kyphosis, Sandal gap, Left ventricul... OMIM:619040
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Advanced tarsal ossification, Stillbirth, Metaphysea... OMIM:269250
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Underdeveloped nasal alae, Lower limb undergro... OMIM:186500
Myopathy, Mitochondrial, And Ataxia
Dysdiadochokinesis, Inability to walk, Tremor, Truncal ataxia, Difficulty walking, Limb ataxia, A... OMIM:617675
Mucopolysaccharidosis Type 6
Genu valgum, Macroglossia, Short neck, Broad ribs, Recurrent upper respiratory tract infections, ... ORPHA:583
Arnold-Chiari Malformation Type I
Scoliosis, Fatigable weakness of swallowing muscles, Gait ataxia, Anteriorly placed odontoid proc... ORPHA:268882
Zimmermann-Laband Syndrome 2
Macroglossia, Underdeveloped nasal alae, Deep philtrum, Kyphosis, Thick vermilion border, Wide na... OMIM:616455
Tonne-Kalscheuer Syndrome
Tremor, Broad thumb, Narrow mouth, Downturned corners of mouth, Wide nasal bridge, Prominent nose... OMIM:300978
Masa Syndrome
Spastic paraplegia, Hyperlordosis, Kyphosis, Lower limb spasticity, Talipes equinovarus, Adducted... OMIM:303350
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Kyphosis, Ataxia, Lumbar hyperlordosis, Lower limb spasticity, Talipes equinovarus, Hi... OMIM:616756
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Congenital bilateral hip dislocation, Talipes equinovarus, Recurrent respiratory infect... ORPHA:85288
Charcot-Marie-Tooth Disease Type 4C
Respiratory insufficiency, Hand muscle atrophy, Vocal cord paralysis, Thoracic scoliosis, Hip dys... ORPHA:99949
Combined Oxidative Phosphorylation Defect Type 13
Lower limb hypertonia, Type 1 muscle fiber predominance, Type 2 muscle fiber atrophy, Limb dyston... ORPHA:319514
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Slender finger, Ve... OMIM:609813
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Congenital muscular dystrophy, Kyphosis ORPHA:1875
Hurler Syndrome
Scoliosis, Abnormal nerve conduction velocity, Death in infancy, Abnormality of the ribs, Short n... ORPHA:93473
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Narrow chest, Pectus carinatum, Kyphosis, Pectus excavatum, High palate, Arachnodactyl... OMIM:300676
Mental Retardation, Autosomal Dominant 23
Scoliosis, Broad distal phalanx of finger, Long philtrum, Hyperlordosis, Drooling, Downturned cor... OMIM:615761
Richieri Costa-Da Silva Syndrome
Genu valgum, Decreased muscle mass, Beaking of vertebral bodies, Skeletal muscle hypertrophy, Pec... ORPHA:3101
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Abnormal respiratory system physiology, Laryngotracheomalacia, Spinal cord compression... ORPHA:94068
Machado-Joseph Disease Type 3
Neurogenic bladder, Clumsiness, Spinocerebellar tract degeneration, Abnormality of extrapyramidal... ORPHA:276244
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Pectus carinatum, Kyphosis, Abnormality of the dentition, Aplasia/Hypoplasia of the lu... ORPHA:1548
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Genu valgum, Platyspondyly, Upper limb undergrowth, Short metatarsal, Pectus ... OMIM:271650
Ruvalcaba Syndrome
Scoliosis, Short metatarsal, Short phalanx of finger, Underdeveloped nasal alae, Dental crowding,... OMIM:180870
Rhizomelic Chondrodysplasia Punctata, Type 2
Scoliosis, Anteverted nares, Stippled calcification proximal humeral epiphyses, Rhizomelia, Flexi... OMIM:222765
Spondylocostal Dysostosis 4, Autosomal Recessive
Restrictive ventilatory defect, Short thorax, Rib fusion, Vertebral segmentation defect, Hemivert... OMIM:613686
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Abnormal clavicle morphology, Abnormality of dental morphology, Kyphosis, Pectus e... ORPHA:2522
Aspergillosis
Abnormality of long bone morphology, Pleuritis, Bronchiectasis, Cough, Abnormal esophagus morphol... ORPHA:1163
Juberg-Hayward Syndrome
Scoliosis, Hypoplasia of the radius, Toe syndactyly, Radioulnar synostosis, Abnormality of finger... ORPHA:2319
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis, Small hand, Short foot, Talipes equinovarus, Hip dislocation, Depressed nasa... OMIM:300434
Axial Mesodermal Dysplasia Spectrum
Scoliosis, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Anal atresia, Mi... ORPHA:1834
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, Scoliosis, Platyspondyly, Thick lower lip vermilion, Hypoplasia of the primary... OMIM:234250
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased muscle glycogen content, EMG: myopathic abnormalities, Dysdiadochokinesis, Tremor, Incr... ORPHA:502423
Variegate Porphyria
Paralysis OMIM:176200
Spondylocostal Dysostosis 1, Autosomal Recessive
Death in infancy, Rib fusion, Back pain, Hemivertebrae, Vertebral fusion, Abnormality of the odon... OMIM:277300
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia, Hip dislocation, Arachnodactyly ORPHA:171719
Proximal 16P11.2 Microduplication Syndrome
Scoliosis, Tremor, Smooth philtrum, Hemivertebrae, Thin upper lip vermilion, Congenital diaphragm... ORPHA:370079
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Intestinal malrotation, Syndactyly, Pulmonary hypoplasia, Abnormality of the diap... OMIM:601163
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Postaxial hand polydactyly, Toe syndactyly, Short neck, Abnormalit... ORPHA:3082
Autosomal Recessive Spastic Paraplegia Type 53
Pectus carinatum, Clonus, Kyphosis, Upper limb hypertonia ORPHA:319199
Brachytelephalangic Chondrodysplasia Punctata
Epiphyseal stippling, Tracheal calcification, Short distal phalanx of toe, Respiratory failure re... ORPHA:79345
Chromosome 1Q41-Q42 Deletion Syndrome
Anteverted nares, Congenital diaphragmatic hernia, Cleft upper lip, Cleft palate, Talipes equinov... OMIM:612530
Dysostosis, Stanescu Type
Scoliosis, Hyperlordosis, Macroglossia, Massively thickened long bone cortices, Carious teeth, Ab... ORPHA:1798
Tick-Borne Encephalitis
Tremor, Fatigable weakness of respiratory muscles, Incoordination, Abnormal cranial nerve morphol... ORPHA:297
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Interosseus muscle atrophy, Difficulty walking, Fiber type grouping, Thenar muscle atrophy, Dista... OMIM:500013
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Pursed lips, Platyspondyly, Narrow mouth, Pectus carinatum, Deep philtrum, Flexion contracture, A... OMIM:245160
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Limb muscle weakness, Paralysis, Skeletal muscle atrophy OMIM:612300
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal ilium morphology, Short phalanx of finger, Narrow mouth, Open mouth, Bulbous nose, Hyper... ORPHA:508533
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Flexion contracture, Spastic tetraplegia, Myopathy, Optic atrophy OMIM:618237
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Spastic paraplegia, Scoliosis, Kyphosis, Flexion contracture, Exaggerated startle response, Dista... OMIM:609541
Smith-Mccort Dysplasia 1
Scoliosis, Genu valgum, Atlantoaxial instability, Multicentric femoral head ossification, Platysp... OMIM:607326
Achondrogenesis Type 1B
Long philtrum, Short thorax, Short nose, Narrow chest, Aplasia/Hypoplasia of the lungs, Short foo... ORPHA:93298
Rhizomelic Syndrome, Urbach Type
Abnormality of the tongue, Preaxial hand polydactyly, Short neck, Wide anterior fontanel, Abnorma... ORPHA:3098
Thanatophoric Dysplasia, Type I
Metaphyseal irregularity, Narrow chest, Hypoplastic ilia, Short greater sciatic notch, Bowing of ... OMIM:187600
Atypical Rett Syndrome
Scoliosis, Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Sudden episodic apnea, Kyphosis, Ab... ORPHA:3095
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased muscle mass, Respiratory insufficiency, Tracheomalacia, Vocal cord paralysis, Knee flex... OMIM:615490
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Short femur, Short neck, Short nose, Pleural effusion, Beaded ribs, Flexion contra... OMIM:616897
Atelosteogenesis, Type I
Short metatarsal, Narrow chest, Thoracic platyspondyly, Multinucleated giant chondrocytes in epip... OMIM:108720
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Genu valgum, Hyperlordosis, Metaphyseal irregularity, Kyphosis, Ovoid vertebral bodies... ORPHA:93315
Jaberi-Elahi Syndrome
Scoliosis, Tremor, Gait ataxia, Short nose, Kyphosis, Abnormality of the dentition, Triangular mo... OMIM:617988
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Arthrogryposis multiplex congenita, Anterior clefting of vertebral bodies, Narrow mout... OMIM:265000
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Atelectasis, Neonatal respiratory distress... OMIM:615294
Bruck Syndrome 1
Scoliosis, Platyspondyly, Protrusio acetabuli, Pectus carinatum, Kyphosis, Coxa vara, Hip contrac... OMIM:259450
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Pectus carinatum, Delayed ossification of carpal bones, Kyphosis, Brachydactyly OMIM:618392
Thoracolaryngopelvic Dysplasia
Scoliosis, Hypoplastic pelvis, Horizontal ribs, Hypoplastic iliac wing, Short ribs, Irregular ver... OMIM:187760
Proximal 16P11.2 Microdeletion Syndrome
Scoliosis, Hand polydactyly, Abnormal vertebral morphology, Speech apraxia, Paroxysmal dyskinesia... ORPHA:261197
Melnick-Needles Syndrome
Scoliosis, Abnormality of the ribs, Delayed eruption of teeth, Short thorax, Tooth malposition, A... ORPHA:2484
Lopes-Maciel-Rodan Syndrome
Scoliosis, Tremor, Hypertonia, Abnormal pyramidal sign, Kyphosis, Ankle clonus, Bradykinesia, Sma... OMIM:617435
Thyrotoxic Periodic Paralysis
Hypomagnesemia, Tremor, Abnormal muscle fiber morphology, Periodic hypokalemic paresis, Increased... ORPHA:79102
Recurrent Respiratory Papillomatosis
Wheezing, Abnormal lung morphology, Respiratory distress, Dyspnea, Recurrent upper respiratory tr... ORPHA:60032
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Gait disturbance, Ragged-red muscle fibers, Ataxia ORPHA:1349
Holt-Oram Syndrome
Scoliosis, Abnormality of the ribs, Anomalous pulmonary venous return, Abnormal clavicle morpholo... ORPHA:392
Van Den Ende-Gupta Syndrome
Distal ulnar hypoplasia, Underdeveloped nasal alae, Dental crowding, High palate, High, narrow pa... OMIM:600920
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Muscular dystrophy, Flexion contracture, Gait disturbance, Hypoglycosyla... ORPHA:272
Pelger-Huet Anomaly
Short 4th metacarpal, Short 3rd metacarpal, Upper limb undergrowth, Polydactyly, Kyphosis, Short ... OMIM:169400
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Scoliosis, Decreased motor nerve conduction velocity, Vocal cord paresis, Lumbar hyperlordosis, D... OMIM:601152
Acrorenal-Mandibular Syndrome
Narrow palate, Narrow chest, Split hand, Hemivertebrae, Congenital diaphragmatic hernia, High pal... OMIM:200980
Arthrogryposis, Distal, Type 4
Scoliosis, Camptodactyly, Deviation of the 2nd toe, Fibular deviation of toes, Tibial deviation o... OMIM:609128
Spastic Paraplegia 53, Autosomal Recessive
Spastic paraplegia, Pectus carinatum, Kyphosis, Lower limb hypertonia, Clonus, Upper limb hypertonia OMIM:614898
Oculocerebrocutaneous Syndrome
Hand polydactyly, Congenital hip dislocation, Finger syndactyly, Wide mouth, Short distal phalanx... ORPHA:1647
Acrocallosal Syndrome