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Gene: Itga7 MGI:102700

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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:
integrin alpha 7
Synonyms:
[a]7,  alpha7

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 Itga7 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 Itga7 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Elev... OMIM:613204
Congenital Fiber-Type Disproportion Myopathy
Ankle flexion contracture, Hypoplasia of the musculature, Shoulder girdle muscle weakness, Elbow ... ORPHA:2020

The table below shows human diseases predicted to be associated to Itga7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... OMIM:254130
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Rhabdomyolysis, Susceptibility To, 1
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:620235
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, E... OMIM:613530
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Polyglucosan Body Myopathy 2
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... OMIM:616199
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... OMIM:601846
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... OMIM:615424
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Elev... OMIM:608807
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Fatty re... OMIM:618848
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253601
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Elev... OMIM:613204
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Muscular dystrophy, Pelvic girdle muscle atrophy, Elevated circul... OMIM:604286
Miyoshi Muscular Dystrophy 3
Muscular dystrophy, Quadriceps muscle weakness, Elevated circulating creatine kinase concentratio... OMIM:613319
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... OMIM:614321
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, ... OMIM:600334
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Abnormal circulating creatine kinase concentration, T... OMIM:614807
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618992
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Muscular dystrophy, Shoulder girdle muscle weakness, Elevated circulating creatine kinase concent... OMIM:611307
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl... ORPHA:2593
Myopathy, Distal, 3
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Mildly ele... OMIM:610099
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Mildly elevated creatine kinase, Myopathy, Weakness of facial... OMIM:617030
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy, Mildly elevated creatine kinase OMIM:604454
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Elevated cir... OMIM:605820
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am... OMIM:158600
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Ankle flexion contracture, Muscular dystrophy, Elevated circulating creatine kinase concentration... OMIM:613818
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:301075
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle fiber calsequestrin 1-containing inclusion bodies, Elevated circulating creatine kinase co... OMIM:616231
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:620246
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Shoulder girdle muscle weakness, Reduced muscle fiber alpha dystroglycan, Abn... ORPHA:34515
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Eleva... OMIM:609115
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:617760
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Muscular dystrophy, Elevated circulating creatine kinase concentration, Proximal amyotrophy, Calf... OMIM:601287
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Muscular dystrophy, Limb-girdle muscle weakness, Elevated circulating creatine kinase concentration OMIM:616094
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Proximal amyotrophy, Elevated circulating creatine kinase concentration OMIM:612998
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Mildly eleva... OMIM:160150
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... OMIM:608358
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Elevated circulating creatine kinase concentration, Limb-girdle muscle weakne... OMIM:609308
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Elevated circulating creati... OMIM:603511
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... OMIM:619566
Dpm3-Cdg
Rimmed vacuoles, Muscular dystrophy, Calf muscle hypertrophy, Pelvic girdle muscle weakness, Elev... ORPHA:263494
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617072
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
Muscular Dystrophy, Congenital, 1B
Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakness, Elevated cir... OMIM:604801
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:618940
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform OMIM:302045
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Scapulohumeral muscular dystrophy, Myopathy, Elevated circulating creatine kinase concentration OMIM:160570
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Muscular dystrophy, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, ... OMIM:613723
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:613152
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Ankle flexion contracture, Muscular dystrophy, Lower limb muscle weakness, Scapular muscle atroph... ORPHA:267
Distal Myopathy, Welander Type
Rimmed vacuoles, Distal upper limb amyotrophy, Foot dorsiflexor weakness, Myopathy, Intrinsic han... ORPHA:603
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Fiber type grouping, Distal amyotrophy, Mildly elevated creatine kinase OMIM:614369
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy OMIM:613158
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253700
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... OMIM:613157
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Scapulohumeral muscular dystrophy, Foot dorsiflexor weakness, Facial palsy, Scapular winging, Pel... OMIM:158901
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... OMIM:181400
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Elevate... OMIM:615352
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Muscular dystrophy, Skeletal muscle atrophy, Triangular tongue, Elevated circulating creatine kin... OMIM:616827
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscular dystrophy, Increased endomysial connective tissue, Elevated circulating creatine kinase ... OMIM:607855
Carnitine Deficiency, Myopathic
Reduced muscle carnitine level, Myopathy OMIM:212160
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting, Eleva... OMIM:609524
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Muscular dystrophy, Lower limb muscle weakness, Elevated circulating creatine kinase concentratio... OMIM:253600
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal amyotrophy, Skeletal... OMIM:614302
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... OMIM:618823
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated ... OMIM:616516
Myopathy, Myofibrillar, 2
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... OMIM:608810
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... OMIM:615422
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Peroneal muscle atrophy, Muscular dystrophy, Limb-girdle muscular dystrophy, Elbow flexion contra... OMIM:181350
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs... ORPHA:1878
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:620402
Nemaline Myopathy 6
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Facial palsy OMIM:609273
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc... ORPHA:457050
Muscular Dystrophy, Becker Type
Muscular dystrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentra... OMIM:300376
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Facial palsy, Ragged-red muscle fibers, Elevated circula... OMIM:616209
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620138
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Elevated circulating cre... OMIM:611615
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Myopathy, Scapular winging, Flexion contracture, ... OMIM:616471
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... OMIM:608099
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy, Elevated circulating creatine kinase concentration OMIM:609500
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617066
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy, Myopathy OMIM:212130
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, Myopathy, Elevated circulating creatine kinase concent... OMIM:123320
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... OMIM:300717
Distal Myopathy With Anterior Tibial Onset
Finger flexor weakness, Abnormal circulating creatine kinase concentration, Intrinsic hand muscle... ORPHA:178400
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Spondylolisthesis, Myopathy, Ragged-red muscle fibers, Abnormal muscle fiber mor... ORPHA:270
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Muscular dystrophy, Elevated circulating creatine kinase concentration, Scapular winging, Achille... ORPHA:62
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Scapular muscle atrophy, Elevated circulating creatine kinase concentration, ... OMIM:611588
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Muscular Dystrophy, Congenital, With Rapid Progression
Muscular dystrophy OMIM:254100
Congenital Muscular Dystrophy Without Intellectual Disability
Muscular dystrophy, Mildly elevated creatine kinase, Reduced muscle fiber alpha dystroglycan, Fac... ORPHA:370980
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Muscular dystrophy OMIM:253590
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Limb muscle weakness, Ragged-red muscle fibers, Elevated ci... OMIM:500002
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Arthrogryposis multiplex congenita, Congenital contracture, Myopathy, Skeletal muscle atrophy OMIM:208100
Myopathy, Distal, 4
Skeletal muscle atrophy, Cardiomyopathy, Thenar muscle weakness, Distal lower limb amyotrophy, Di... OMIM:614065
Myasthenic Syndrome, Congenital, 17
Type 1 muscle fiber predominance OMIM:616304
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... OMIM:619042
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:309930
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia, Elevated circulating creatine ... ORPHA:972
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Facial palsy, Flexion contrac... OMIM:616470
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Muscular dystrophy OMIM:254000
Multiminicore Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... ORPHA:598
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... ORPHA:34516
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Eleva... OMIM:160565
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... OMIM:618734
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:613869
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri... OMIM:300696
Facioscapulohumeral Muscular Dystrophy 1
Shoulder girdle muscle atrophy, Scapulohumeral muscular dystrophy, Skeletal muscle atrophy, Shoul... OMIM:158900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Joint contracture of the hand, Muscular dystrophy, Elbow flexion contracture, Elevated circulatin... OMIM:608840
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Ankle flexion contracture, Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglyca... ORPHA:280333
Myasthenic Syndrome, Congenital, 25, Presynaptic
Generalized amyotrophy, Myopathy, Flexion contracture, Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... OMIM:300718
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... OMIM:620068
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Weakness of facial musculature, Angulated muscle fibers, Shoulder girdle muscle... OMIM:619477
Oculopharyngeal Muscular Dystrophy 1
Facial palsy, Limb muscle weakness, Ragged-red muscle fibers, Elevated circulating creatine kinas... OMIM:164300
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... ORPHA:401768
Bethlem Myopathy 1A
Ankle flexion contracture, Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contra... OMIM:158810
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Lethal Congenital Contracture Syndrome 3
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Multiple joint contractures, Neonata... OMIM:611369
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... OMIM:620542
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... OMIM:616924
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:613151
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Muscular dystrophy, Abnormal circulating creatine kinase concentr... ORPHA:369840
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase... OMIM:615350
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Rigid Spine Syndrome
Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Myopathy, Hip contrac... ORPHA:97244
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... OMIM:226670
Muscular Dystrophy, Congenital, Lmna-Related
Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Muscle fiber atrophy, Hamstrin... OMIM:613205
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Ragged-red muscle fibers, Elevated circulating creatine kinase concentra... OMIM:617069
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Nemaline Myopathy 7
Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Lumbar hyperlordosis, Limb m... OMIM:610687
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Increased endomysial connective tissue, Myopathy, Elevated circulating creati... OMIM:602541
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... OMIM:255160
Congenital Myopathy With Myasthenic-Like Onset
Minicore myopathy, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Scapu... ORPHA:424107
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, EMG: myopathic abnormalities, Hyperlordosis, Scapular... OMIM:255200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Muscular dystrophy, Generalized limb muscle atrophy, Elevated circulating creatine kinase concent... OMIM:615351
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, Mildly elevated creatine kinase, Intrinsic hand m... ORPHA:399086
Acetyl-Coa Carboxylase-Alpha Deficiency
Myopathy OMIM:613933
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Duane Anomaly-Myopathy-Scoliosis Syndrome
Scoliosis, Myopathy ORPHA:50817
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy OMIM:204730
Factor Vii Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:227500
Digital Extensor Muscle Aplasia-Polyneuropathy
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:2926
Myopathy, Distal, With Anterior Tibial Onset
Myopathy OMIM:606768
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal amyotrophy, Arthrogryposis multiplex congenita, Elbow flexion contracture, Nonprogressive ... OMIM:600175
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Shoulder girdle musc... OMIM:606612
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Limb-girdle muscular dystrophy, Lower limb muscle weakness, Elevated circulating creatine kinase ... OMIM:616052
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... ORPHA:596
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... OMIM:310440
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... OMIM:605637
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Muscle fiber atrophy, Upper limb muscle weakness, Elevat... ORPHA:309169
Adult-Onset Nemaline Myopathy
Nemaline bodies, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... ORPHA:171442
Myopathy, Myofibrillar, 6
Muscular dystrophy, Lower limb muscle weakness, Myofibrillar myopathy, Knee flexion contracture, ... OMIM:612954
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Abnormal circulating creatine kinase concentration, H... OMIM:615959
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi... OMIM:618654
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Congenital Myopathy 14
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... OMIM:618414
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... OMIM:616313
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Lumbar hyperlordosis, Muscle fiber... OMIM:619542
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Familial Cervical Artery Dissection
Dilatation of the cerebral artery, Transient ischemic attack, Cerebral ischemia, Stroke, Subarach... ORPHA:36382
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... OMIM:619518
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of facial musculature, ... OMIM:619790
Congenital Myopathy 4B, Autosomal Recessive
Shoulder girdle muscle atrophy, Nemaline bodies, Distal lower limb amyotrophy, Facial diplegia, D... OMIM:609284
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,... OMIM:167320
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido... ORPHA:98905
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Lower limb muscle weakness, Joint contracture, Scoliosis, Kyphosis OMIM:611225
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Muscular dystrophy, Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, ... OMIM:613155
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Type 1 muscle fiber p... OMIM:160500
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Increased serum pyruvate, Skeletal muscle atrophy ORPHA:238329
Lipodystrophy, Familial Partial, Type 6
Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Abnormal circulating lip... OMIM:615980
Bethlem Muscular Dystrophy
Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy, Quadriceps muscle weakness, Inter... ORPHA:610
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Muscular dystrophy OMIM:614830
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased laxity of fingers, ... OMIM:254090
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Klhl9-Related Early-Onset Distal Myopathy
Ankle flexion contracture, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles,... ORPHA:399081
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Limb muscle weakness, Type 1 muscle fiber predominance, Myopathy, Type 2 m... OMIM:603034
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy OMIM:158800
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Muscular dystrophy, Abnormal toe morphology, Distal lower li... ORPHA:459033
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Foot dorsiflexo... OMIM:619216
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Limb muscle weakness, Joint contract... OMIM:617258
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy ORPHA:2579
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... OMIM:255310
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy OMIM:545000
Distal Myotilinopathy
Distal amyotrophy, Multiple joint contractures, Abnormal muscle fiber myotilin, Elevated circulat... ORPHA:98911
Zebra Body Myopathy
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, EMG: myo... ORPHA:97240
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... OMIM:605355
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Myopathy, E... OMIM:248800
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Talipes equinovarus, Facial palsy, Type 1 muscle fiber predominance ORPHA:178145
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased variability in muscle fiber diameter, Hypermethioninemia, Increased ci... OMIM:613752
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis, Flexion contracture OMIM:168400
Scapuloperoneal Myopathy, X-Linked Dominant
Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus... OMIM:300695
Isolated Glycerol Kinase Deficiency
Scoliosis, Hyperlordosis, Myopathy ORPHA:408
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers OMIM:609283
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Slender finger, Increased endomysial connective t... ORPHA:75840
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Scoliosis, Myopathy OMIM:255100
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, Extremely elevated creatine kinase, Mildly elevated crea... ORPHA:171445
Congenital Disorder Of Glycosylation, Type Iid
Myopathy, Decreased muscle mass OMIM:607091
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Central Core Disease
Nemaline bodies, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Kyphosc... ORPHA:597
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle weakness, Myo... OMIM:300580
Myasthenic Syndrome, Congenital, 12
Mildly elevated creatine kinase, Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy OMIM:610542
Congenital Factor Ii Deficiency
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... ORPHA:325
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy ORPHA:366
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis, Elevated circulating creatine ... OMIM:617070
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Ulnar claw, Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated ... OMIM:608340
Classic Multiminicore Myopathy
Muscular dystrophy, Muscle fiber atrophy, Increased muscle lipid content, Multiple joint contract... ORPHA:324604
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... ORPHA:353
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... ORPHA:169189
Distal Nebulin Myopathy
Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Foot dorsiflexor weak... ORPHA:399103
Nemaline Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber splitting, Nemaline... OMIM:256030
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Skeletal muscle atrophy, Absent P wave, Elbow flexion contracture, Palpit... OMIM:310300
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Camptodactyly of finger, Elevated circulating cre... OMIM:614399
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Elevated circulating cre... OMIM:151800
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Muscular dystrophy ORPHA:1875
Leber Hereditary Optic Neuropathy
Arrhythmia, Myopathy, Retinal telangiectasia, Ventricular preexcitation ORPHA:104
Mitochondrial Myopathy, Infantile, Transient
Decreased circulating carnitine concentration, Increased muscle lipid content, Ragged-red muscle ... OMIM:500009
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:613954
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Muscular dystrophy, Elevated circulating creatine kinase concentration, Left ventricular hypertro... OMIM:613156
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, EMG: myopathic abnormalities, Elevated circulating creatine kinase concent... OMIM:609452
Congenital Muscular Dystrophy, Fukuyama Type
Muscular dystrophy, Camptodactyly of finger, Myopathy, Hypoglycosylation of alpha-dystroglycan, F... ORPHA:272
Congenital Myasthenic Syndromes With Glycosylation Defect
Generalized weakness of limb muscles, Lumbar hyperlordosis, Type 1 muscle fiber predominance, Rag... ORPHA:353327
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... OMIM:620249
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... ORPHA:352479
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... ORPHA:79
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture, Elevated... OMIM:615368
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Myopathy OMIM:618246
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Weakness of ... ORPHA:59135
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Kyphosis, Myopathy, Generalized limb muscle atrophy ORPHA:2598
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Facial diplegia, Type 1 muscle fiber predominance, Hi... ORPHA:169186
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... ORPHA:154
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Myopathy, Elevated circulating creatine kinase co... ORPHA:119
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Weakness of fac... OMIM:620161
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... ORPHA:171439
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Foot dorsiflexor weakness, Scoliosis, Lower limb amyotrophy, Upper limb amyotrophy OMIM:617087
Spinal Muscular Atrophy, Ryukyuan Type
Proximal amyotrophy, Spinal muscular atrophy, Kyphoscoliosis OMIM:271200
Combined Oxidative Phosphorylation Deficiency 6
Increased serum pyruvate, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Joint hemorrhage, Abnormal bleeding, Subdural hem... ORPHA:169805
Marinesco-Sjögren Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:559
Congenital Myopathy 16
Lumbar hyperlordosis, Scapular winging, Flexion contracture, Scoliosis, EMG: myopathic abnormalit... OMIM:618524
Dna2-Related Mitochondrial Dna Deletion Syndrome
Limb-girdle muscle weakness, Hyperlordosis, Myopathy, Multiple joint contractures ORPHA:352470
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Type 1 muscle fi... OMIM:609285
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Muscular dystrophy, Shoulder girdle muscle weakness, Elevated circulating creatine kinase concent... OMIM:607155
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Muscular dystrophy ORPHA:324416
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets OMIM:619065
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... ORPHA:98879
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle atrophy, Fiber type ... OMIM:619903
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Increased endomysial connective tissue, Arthrogryposis multiplex congenita, Sh... ORPHA:178148
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Decreased circulating ferritin concentration, Abnormal muscle fiber protein expression ORPHA:330054
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Kyphosis, Myopathy, Neonatal death OMIM:618237
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Intracranial hemorrhage, Cerebral hemorrhage OMIM:105150
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Joint hemorrhage, Prolonged bleeding following circumcisi... ORPHA:169802
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Mildly elevated creat... ORPHA:397744
Cerebral Cavernous Malformations 2
Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage OMIM:603284
Congenital Factor Xiii Deficiency
Gingival bleeding, Epistaxis, Delayed onset bleeding, Prolonged bleeding following circumcision, ... ORPHA:331
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... OMIM:617114
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Mildly elevated creatine kinase, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Stroke-like episode, Ragged-red muscle fibers, Myopathy, Arrhythmia, Le... OMIM:540000
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration OMIM:619024
Nemaline Myopathy 8
Myofibrillar myopathy, Nemaline bodies, Flexion contracture, Facial palsy OMIM:615348
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98855
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Triceps weakness, Intrinsi... OMIM:619574
Abetal34V Amyloidosis
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324703
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:615181
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Myopathy, Hyperlordosis, Flexion contracture, Spinal rigidity ORPHA:157973
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ragged-red muscle fibers, Myopathy OMIM:618242
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Congenital Myopathy 22A, Classic
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620351
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Neonatal death, Adducted thumb, ... OMIM:619334
Spinal Muscular Atrophy, X-Linked 2
Arthrogryposis multiplex congenita, Multiple joint contractures, Myopathy, Spinal muscular atroph... OMIM:301830
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrop... ORPHA:206559
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy OMIM:551500
X-Linked Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98863
Congenital Myopathy 24
Nemaline bodies, Abnormal circulating creatine kinase concentration, Type 1 muscle fiber predomin... OMIM:617336
Congenital Factor V Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... ORPHA:326
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Myopathy, Kyphoscoliosis ORPHA:300179
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure ORPHA:91130
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Hyperalaninemia, ... OMIM:617228
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Decreased circulating carnitine concentration, Increased muscle lipid content, Ragged-red muscle ... ORPHA:254864
Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98853
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Myopathy ORPHA:1369
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter OMIM:617915
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Neonatal death OMIM:614096
Snakebite Envenomation
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Cerebral ischemi... ORPHA:449285
Myopathy And Diabetes Mellitus
Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscle, Shoulder girdle muscle weak... ORPHA:2596
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Limb muscle weakness, Myopathy, Type 2 muscle fiber atrophy OMIM:605809
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Distal upper limb amyotrophy, Scoliosis, Kyphosis ORPHA:101075
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Hyperammonemia, Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Rha... OMIM:618416
Muscular Dystrophy, Duchenne Type
Muscular dystrophy, Hamstring contractures, Knee flexion contracture, Elevated circulating creati... OMIM:310200
Reversible Cerebral Vasoconstriction Syndrome
Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i... ORPHA:284388
Factor Xiii, A Subunit, Deficiency Of
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ... OMIM:613225
Congenital Disorder Of Glycosylation, Type Ie
Ankle flexion contracture, Muscular dystrophy, Small hand, Upper limb undergrowth, Knee flexion c... OMIM:608799
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy, Neonatal death OMIM:300219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Muscular dystrophy, Left ventricular hypertrophy, Elevated circulating creatine kinase concentration OMIM:613153
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Epistaxis, Gastrointestinal hemorrhage, Post-partum hemorrhage, Prolonged bleeding after dental e... ORPHA:465
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... ORPHA:171436
Amish Nemaline Myopathy
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Proximal amyotro... ORPHA:98902
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,... OMIM:616867
Congenital Muscular Dystrophy With Cerebellar Involvement
Muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Elevated circulating creatine kinase... ORPHA:370959
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal rigidity, Generalized amyotrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial m... ORPHA:352447
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Quadriceps muscle weakness, Elbow flexion contracture, Lumbar hyperlordosis, Abnormality of the s... ORPHA:206546
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Facial diplegia, Foot dorsiflexor weakness, EMG: myopathic... ORPHA:329478
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Kyphosis, Myopathy OMIM:618234
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Muscular dystrophy, Elevated circulating creatine... OMIM:616538
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... OMIM:273800
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Shoulder girdle muscle weakness, Myopathy, Hyperlordosis, Pelvic girdle muscle weakness, Generali... OMIM:615156
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont... ORPHA:536516
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Proximal muscle weakness in lower limbs, Lower limb muscle weakness, Hip contracture, Spinal musc... OMIM:615290
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Myopathy Due To Myoadenylate Deaminase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Myopathy OMIM:615511
Congenital Myopathy 2A, Typical, Autosomal Dominant
Nemaline bodies, Arthrogryposis multiplex congenita, Limb muscle weakness, Type 1 muscle fiber pr... OMIM:161800
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ragged-red muscle fibers OMIM:615159
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Increased intramyocellular lipid droplets, Mildly elevated creatine kinase,... ORPHA:681
Combined Oxidative Phosphorylation Deficiency 28
Increased serum pyruvate, Ragged-red muscle fibers OMIM:616794
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Nemaline bodies, Myopathy, Cervical C2/C3 vertebral fusion, Short neck, Thoracolumbar scoliosis, ... OMIM:616549
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Congestive heart failure, Palpi... ORPHA:206569
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, Elevated circulating creatine ki... OMIM:609560
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Kyphosis, Skeletal muscle atrophy ORPHA:101078
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Proximal amyotrophy, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity OMIM:617404
Abeta Amyloidosis, Iowa Type
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324708
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers ORPHA:480
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
X-Linked Immunoneurologic Disorder
Myopathy ORPHA:2571
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ... ORPHA:57
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi... ORPHA:2141
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Glycogen Storage Disease X
Rhabdomyolysis, Myopathy OMIM:261670
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Macroglossia, Myopathy, Skeletal muscle hypertrophy ORPHA:2349
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy OMIM:125250
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Lethal Congenital Contracture Syndrome 9
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... OMIM:616503
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ... ORPHA:98913
Adducted Thumbs Syndrome
Arthrogryposis multiplex congenita, Myopathy OMIM:201550
Mitochondrial Complex I Deficiency, Nuclear Type 14
Hypertrophic cardiomyopathy, Myopathy OMIM:618236
Malignant Hyperthermia, Susceptibility To, 2
Anesthetic-induced rhabdomylosis, Alcohol-induced rhabdomyolysis, Exercise-induced rhabdomyolysis... OMIM:154275
Atrial Standstill
Left ventricular noncompaction, Muscular dystrophy, Flexion contracture, Skeletal muscle atrophy ORPHA:1344
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Increased endomysial connective tissue, Muscular dystrophy, Flexion contracture, Elevated circula... OMIM:613154
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Kyphosis OMIM:618453
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Cutis Laxa-Marfanoid Syndrome
Arachnodactyly, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Sneddon Syndrome
Ischemic stroke, Stroke, Cerebral hemorrhage, Facial palsy, Hypertension OMIM:182410
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter OMIM:617235
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Neonatal death, Short neck, Camptodactyly, Arthrogryposis multiplex cong... OMIM:618393
Intellectual Disability-Developmental Delay-Contractures Syndrome
Congenital foot contractures, Distal amyotrophy, Scoliosis, Kyphosis ORPHA:3454
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub... ORPHA:853
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Distal amyotrophy, Kyphoscoliosis OMIM:619099
Cap Myopathy
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Abnormal muscle fiber... ORPHA:171881
Malignant Hyperthermia, Susceptibility To, 3
Anesthetic-induced rhabdomylosis, Alcohol-induced rhabdomyolysis, Exercise-induced rhabdomyolysis... OMIM:154276
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Arachnodactyly, Congenital diaphragmatic hernia OMIM:614100
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Skele... OMIM:607459
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Muscular dystrophy, Flexion contracture, Elevated circulating creatine kinase concentration OMIM:615249
Fibrosis Of Extraocular Muscles, Congenital, 3C
Congenital fibrosis of extraocular muscles, Kyphosis OMIM:609384
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Congenital contracture, Eleva... OMIM:613150
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Myopathy, Weakness of facial musculature, Spinal muscular atrophy, Scoli... ORPHA:254875
Short Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy, Cardiomyopathy ORPHA:26792
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Foot dorsiflexor weakness, Talipes equ... OMIM:620011
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle glycogen content, Cardiomyopathy, Decreased muscle mass, Upper limb muscle weakn... ORPHA:263297
Intermediate Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Flex... ORPHA:171433
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Arterial stenosis, Stroke, Cerebra... ORPHA:136
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, EMG: myopathic abnormalities, Knee flexion ... OMIM:619040
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Muscle fiber atrophy, Ragged-red muscle fibers, Myopathy, Scapular winging,... ORPHA:254886
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Lower limb undergrowth, Upper limb undergrowth OMIM:613630
Amyotrophic Lateral Sclerosis 27, Juvenile
Lower limb muscle weakness, Angulated muscle fibers, Quadriceps muscle atrophy, Intrinsic hand mu... OMIM:620285
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Muscle fiber splitting, Scapular mu... OMIM:181405
Hypophosphatasia, Childhood
Myopathy OMIM:241510
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Glutamate-Cysteine Ligase Deficiency
Myopathy ORPHA:33574
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Postaxial foot polydactyly, Preaxial hand polydac... ORPHA:380
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Cerebellar hemorr... OMIM:605714
Cardiomyopathy, Familial Hypertrophic, 4
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventr... OMIM:115197
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... OMIM:609813
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Muscular dystrophy, Abnormal circulating homocysteine concen... ORPHA:88618
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Mildly elevated creatine... OMIM:258450
Familial Afibrinogenemia
Gingival bleeding, Epistaxis, Abnormal bleeding, Cerebral hemorrhage ORPHA:98880
Dpm1-Cdg
Muscular dystrophy, Sandal gap, Long hallux, Knee flexion contracture, Elevated circulating creat... ORPHA:79322
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... ORPHA:40
Glycogen Storage Disease Vii
Increased variability in muscle fiber diameter, Increased total bilirubin, Hyperuricemia, Elevate... OMIM:232800
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Elevated circulating creatine ki... ORPHA:52430
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Glycogen Storage Disease Iii
Distal amyotrophy, Myopathy, Cardiomyopathy OMIM:232400
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Elevated circulating creatine k... ORPHA:565899
Acquired Partial Lipodystrophy
Myopathy ORPHA:79087
Extracranial Carotid Artery Aneurysm
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Upper limb muscle weakness, Ather... ORPHA:494424
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Decreased cervical spine flexion due to contractur... ORPHA:254361
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Myopathy With Lactic Acidosis, Hereditary
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Rhabdomyolysis, Myopathy... OMIM:255125
Brain Small Vessel Disease 2
Intracranial hemorrhage OMIM:614483
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... OMIM:620278
Fetal Gaucher Disease
Neonatal death, Stillbirth, Intracranial hemorrhage, Arthrogryposis multiplex congenita, Flexion ... ORPHA:85212
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Neonatal death OMIM:615524
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Congenital diaphragmatic hernia, Abnormality of the diaphragm, Clinodactyly of th... OMIM:601163
Adrenal Hypoplasia, Congenital
Hyponatremia, Muscular dystrophy OMIM:300200
Mitochondrial Dna Depletion Syndrome 11
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Proximal amyotrophy... OMIM:615084
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Ragged-red muscle fibers, Elevated circulating creatine kinase concentra... OMIM:615418
Sengers Syndrome
Hypertrophic cardiomyopathy, Myopathy, Pulmonary arterial hypertension, Cardiac arrest, Sudden ca... OMIM:212350
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, Abnormal cerebral artery... ORPHA:90065
Hypokalemic Periodic Paralysis, Type 1
Myopathy OMIM:170400
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating acylcarnitine concentration, Muscle fiber atrophy, Increased muscle lipid co... ORPHA:228302
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm ORPHA:2140
Walker-Warburg Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:899
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Kyphosis, Skeletal muscle hypertrophy ORPHA:99014
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Generalized amyotrophy, Muscle fiber atrophy, Spi... OMIM:616866
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
EMG: myopathic abnormalities, Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle we... ORPHA:99939
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Absent muscle fiber merosin, Muscle fiber atrophy, Myositis, Macroglossia, Fl... ORPHA:258
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol... OMIM:271530
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Cerebell... ORPHA:99901
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Flexion contracture OMIM:619026
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Facial diplegia, Neonatal death, Sho... OMIM:611890
Spinocerebellar Ataxia 28
Ragged-red muscle fibers, Lower limb hypertonia OMIM:610246
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Scoliosis, Myopathy ORPHA:369847
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Increased variability in muscle fiber diameter, Ankle flexion contracture, Elbow flexion contract... OMIM:619461
Familial Hyperaldosteronism Type Iii
Epistaxis, Left ventricular hypertrophy, Prolonged QT interval, Intracranial hemorrhage, Hyperten... ORPHA:251274
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Muscle fiber atrophy, Flexion contracture, Elevated circulating creatine kinase concentration OMIM:620240
Methanol Poisoning
Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor... ORPHA:31825
Wyburn-Mason Syndrome
Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, ... ORPHA:53719
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Muscular dystrophy, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, ... OMIM:253800
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development
Firm muscles, Vertebral wedging, Skeletal muscle hypertrophy, Kyphoscoliosis OMIM:255710
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Distal lower limb muscle weakness, Small thenar eminence, Scapular winging, Tendon rupture, Fiber... OMIM:620080
Carcinoid Syndrome
Right ventricular failure, Tricuspid regurgitation, Palpitations, Facial telangiectasia, Myopathy... ORPHA:100093
Primary Angiitis Of The Central Nervous System
Stroke, Transient ischemic attack, Intracranial hemorrhage, Cerebral vasculitis ORPHA:140989
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance OMIM:619173
Stormorken Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Stroke-like episode, Myopathy, Subarachnoi... OMIM:185070
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Facial myokymia OMIM:620007
Dural Sinus Malformation
Subdural hemorrhage, Abnormal facial vein morphology, Stroke, Subarachnoid hemorrhage, Cerebellar... ORPHA:97339
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Moyamoya phenomenon, Ischemic stroke, Coronary artery atherosclerosis, Ce... ORPHA:280679
Multicentric Carpotarsal Osteolysis Syndrome
Carpal osteolysis, Metacarpal osteolysis, Ulnar deviation of the hand or of fingers of the hand, ... OMIM:166300
Acrocallosal Syndrome
Triphalangeal thumb, Congenital diaphragmatic hernia, Postaxial hand polydactyly ORPHA:36
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Shoulder girdle muscle weakness, Distal upper limb amyotrophy, Abnormal morpholo... ORPHA:600
Pparg-Related Familial Partial Lipodystrophy
Myopathy, Hyperuricemia, Hypertriglyceridemia, Abnormality of skeletal muscle fiber size, Calf mu... ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of skeletal muscle fiber size, Hypertriglyceridemia, Myopathy, Skeletal muscle hypert... ORPHA:2348
Spastic Paraplegia Type 7
Upper limb muscle weakness, Ragged-red muscle fibers, Lower limb muscle weakness, Lower limb hype... ORPHA:99013
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal vascular... ORPHA:464321
Leber Optic Atrophy
Central retinal vessel vascular tortuosity, Arrhythmia, Myopathy OMIM:535000
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Skeletal muscle atrophy, Anterior beaking of lumbar vertebrae, Scoliosis, Kyphosis OMIM:230650
Phosphoglycerate Kinase 1 Deficiency
Rhabdomyolysis, Myopathy OMIM:300653
Optic Atrophy 11
Increased variability in muscle fiber diameter, Facial diplegia, Bilateral talipes equinovarus, F... OMIM:617302
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ragged-red muscle fibers, Generalized amyotrophy OMIM:613561
Spinocerebellar Ataxia With Epilepsy
Myopathy ORPHA:254881
Acquired Purpura Fulminans
Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Intracranial hemorrhage ORPHA:49566
Periventricular Nodular Heterotopia 1
Stroke, Patent ductus arteriosus, Cerebral hemorrhage OMIM:300049
Danon Disease
Skeletal muscle autophagosome accumulation, Atrioventricular block, Dilated cardiomyopathy, Secon... OMIM:300257
Autosomal Dominant Optic Atrophy Plus Syndrome
Myopathy, Limb-girdle muscle weakness, Cardiomyopathy ORPHA:1215
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Elevated circulating creatine ... OMIM:619424
Familial Isolated Hypoparathyroidism
Arrhythmia, Myopathy ORPHA:2238
Axial Osteomalacia
Myopathy OMIM:109130
Autoerythrocyte Sensitization Syndrome
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Ecchymo... ORPHA:324636
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitation, Myop... OMIM:212140
Familial Multiple Nevi Flammei
Arteriovenous malformation, Pulmonary embolism, Venous insufficiency, Arrhythmia, Intracranial he... ORPHA:624
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Y-shaped metatarsals, Y-s... OMIM:175700
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Myopathy ORPHA:166002
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Hip contracture, Knee flexion contracture, Thoracolumbar scoliosis, Kyphosis OMIM:313420
Myasthenia, Limb-Girdle, Autoimmune
Proximal amyotrophy, Type 2 muscle fiber atrophy, Mildly elevated creatine kinase OMIM:159400
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... OMIM:612949
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Spinal arteriovenous malformation, Right... OMIM:610655
Isolated Succinate-Coq Reductase Deficiency
Abnormal atrioventricular conduction, Distal amyotrophy, Skeletal muscle atrophy, Hypertrophic ca... ORPHA:3208
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... OMIM:277450
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Isolated Anencephaly
Congenital diaphragmatic hernia ORPHA:563609
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:85329
Pseudoachondroplasia
Platyspondyly, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, Lumbar ... ORPHA:750
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Muscular dystrophy ORPHA:300751
Richieri Costa-Da Silva Syndrome
Vertebral wedging, Decreased muscle mass, Decreased anterioposterior diameter of lumbar vertebral... ORPHA:3101
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Upper limb hypertonia ORPHA:319199
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature OMIM:616239
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormality of the cervical spine, Finger joint contracture, Acute rhabdomyolysis, Scoliosis, Kyp... ORPHA:48431
Dengue Fever
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ... ORPHA:99828
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abdominal aortic aneurysm, Carotid artery dilatation, Patent ductus arterio... ORPHA:91387
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness, Elevated circulati... OMIM:616479
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Upper limb hypertonia, Lower limb hypertonia OMIM:614898
Erythrocytosis, Familial, 2
Hypotension, Cerebral hemorrhage, Stroke, Pulmonary arterial hypertension, Varicose veins OMIM:263400
Scleromyxedema
Abnormal pulmonary artery morphology, Abnormal coronary artery morphology, Transient ischemic att... ORPHA:167635
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Subdural hemorrhage, Multiple joint contractures, Flexion contracture, A... OMIM:618291
Polycythemia Vera
Budd-Chiari syndrome, Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage OMIM:263300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ra... OMIM:157640
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Increased serum pyruvate, Myopathy OMIM:604377
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Hyperbilirubinemia, Myopathy, Reduced haptoglobin... OMIM:611881
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:94080
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Flexion contracture, Scoliosis, Myopathy, Weakness of facial musculature OMIM:201470
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Congestive heart failure, Myopathy, Arrhythmia, Flexion contracture, Ske... ORPHA:682
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Mildly elevated creatine kinase, Weakness of faci... ORPHA:502423
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Skeletal muscle atrophy, Congestive heart failure, Portal hypertension, M... ORPHA:367
Epidermolysis Bullosa Simplex With Pyloric Atresia
Muscular dystrophy, Flexion contracture, Elevated circulating creatine kinase concentration ORPHA:158684
Glycogen Storage Disease Xv
Type 1 muscle fiber predominance, Scapular winging OMIM:613507
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Muscular dystrophy, Adducted thumb, Elevated circulating creatine kinase concentration OMIM:614643
Neu-Laxova Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:2671
Erythrocytosis, Familial, 1
Hypertension, Myocardial infarction, Cerebral hemorrhage OMIM:133100
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Foot dorsiflexor weakness, Scoliosis, Kyphosis OMIM:618124
Native American Myopathy
Congenital contracture, Skeletal muscle atrophy, Muscle fiber atrophy, Talipes equinovarus, Campt... ORPHA:168572
Linear Skin Defects With Multiple Congenital Anomalies 2
Sandal gap, Congenital diaphragmatic hernia OMIM:300887
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Facial palsy OMIM:616720
Familial Hyperaldosteronism Type Ii
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:404
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter OMIM:615595
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension, Myopathy ORPHA:363400
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia ORPHA:1166
Familial Hyperaldosteronism Type I
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:403
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Skeletal muscle atrophy, Distal arthrogryposis, Myopathy ORPHA:42
Oculogastrointestinal Muscular Dystrophy
Skeletal muscle atrophy, Myopathy ORPHA:1876
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Hand muscle weakness, Type 1 muscle fiber predominance, Myopathy, Type 2... ORPHA:98915
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased serum pyruvate, Ragged-red muscle fibers ORPHA:1349
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Elevated circulating creatine ... OMIM:617675
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Foot dorsifle... OMIM:164310
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171420
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Medial calc... OMIM:177850
Zimmermann-Laband Syndrome 3
Flexion contracture, Kyphosis OMIM:618658
Congenital Myopathy 21 With Early Respiratory Failure
EMG: myopathic abnormalities, Spinal rigidity OMIM:620326
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis OMIM:300434
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis ORPHA:85288
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage ORPHA:398189
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomenon, Stroke-li... OMIM:300845
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Flexion contracture, Distal amyotrophy, Scoliosis, Kyphosis OMIM:609541
Parkes Weber Syndrome
Arteriovenous malformation, Abnormal bleeding, Vascular tortuosity, Lower limb muscle weakness, V... ORPHA:90307
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Absent thumb, Elbow flexion contracture, Congenital diaphragmatic hernia, Bowed humerus, Bilatera... OMIM:618022
Schisis Association
Micromelia, Congenital diaphragmatic hernia ORPHA:63862
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Arrhythmia, Myopathy, Rhabdomyolysis, Cardiomyopathy ORPHA:228305
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Rhabdomyolysis, Myopathy ORPHA:713
Chanarin-Dorfman Syndrome
Myopathy OMIM:275630
Craniofrontonasal Dysplasia
Finger syndactyly, Sandal gap, Camptodactyly of finger, Congenital diaphragmatic hernia, Hand pol... ORPHA:1520
Spastic Paraplegia 46, Autosomal Recessive
Scoliosis, Kyphosis, Lower limb muscle weakness, Limb muscle weakness OMIM:614409
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Cardiomyopathy, Coronary artery stenosis, Abnormality of the shoulder girdle mus... ORPHA:565612
Glycogen Storage Disease Ii
Firm muscles, Sinus tachycardia, Dilatation of the cerebral artery, Limb muscle weakness, Shorten... OMIM:232300
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Neonatal deat... OMIM:620300
Mitochondrial Trifunctional Protein Deficiency 1
Dilated cardiomyopathy, Congestive heart failure, Rhabdomyolysis, Myopathy, Arrhythmia OMIM:609015
Mcdonough Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis, Kyphosis ORPHA:2471
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Clinodactyly of the 5th finger, Facial palsy, Skeletal muscle atrophy, Abnormal muscle fiber morp... ORPHA:3068
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Myopathy OMIM:613077
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers ORPHA:70595
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Scoliosis, Kyphosis OMIM:616756
Adrenomyodystrophy
Myopathy ORPHA:977
Bruck Syndrome 1
Platyspondyly, Ankle flexion contracture, Vertebral wedging, Elbow flexion contracture, Hip contr... OMIM:259450
Sialidosis Type 2
Flexion contracture, Skeletal muscle atrophy, Kyphosis ORPHA:87876
Winchester Syndrome
Kyphosis OMIM:277950
Propionic Acidemia
Cerebellar hemorrhage, Limb hypertonia, Cardiomyopathy OMIM:606054
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin... OMIM:187300
Muscle-Eye-Brain Disease
Myopathy ORPHA:588
Mcleod Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Rhabdomyolysis, Atrial fibrillation OMIM:300842
Autosomal Dominant Optic Atrophy, Classic Form
Scapular winging, Skeletal muscle atrophy, Myopathy, Weakness of facial musculature ORPHA:98673
Bannayan-Riley-Ruvalcaba Syndrome
Arteriovenous malformation, Skeletal muscle atrophy, Subcutaneous hemorrhage, Myopathy, Telangiec... ORPHA:109
Caribbean Parkinsonism
EMG: myopathic abnormalities, Orthostatic hypotension ORPHA:97355
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Bruising susceptibility, Limb muscle weakness, Myopathy, Limb-girdle mus... OMIM:112250
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension ORPHA:231625
Combined Oxidative Phosphorylation Deficiency 11
Myopathy, Stillbirth, Cardiomyopathy, Neonatal death OMIM:614922
Metatropic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Camptodactyly of finger, A... ORPHA:2635
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Overlapping fingers, Femoral bowing, Talipes equi... OMIM:617022
Metatropic Dysplasia
Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Arthrogryposi... OMIM:156530
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Bruising susceptibility, Prolonged bleeding time ORPHA:3226
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Prolonged QRS complex, Ischemic stro... ORPHA:90068
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:261740
Arthrogryposis, Distal, Type 5
Firm muscles, Decreased muscle mass, Distal arthrogryposis, Congenital finger flexion contracture... OMIM:108145
Zimmermann-Laband Syndrome 2
Macroglossia, Short neck, Kyphosis OMIM:616455
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Second degree atrioventricular block, Pulmonary arterial hypertension, Intracranial he... ORPHA:369929
Marden-Walker Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:2461
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Facial telangiectasia, Cerebral art... OMIM:600376
Glycerol Kinase Deficiency
Hyperglycerolemia, Muscular dystrophy, Myopathy, Hypertriglyceridemia OMIM:307030
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Myasthenic Syndrome, Congenital, 20, Presynaptic
Scoliosis, Skeletal muscle atrophy, Facial palsy, Arthrogryposis multiplex congenita, Kyphosis OMIM:617143
Xp22.13P22.2 Duplication Syndrome
2-3 toe syndactyly, Small hand, Congenital diaphragmatic hernia, Tapered finger ORPHA:284180
Autism Spectrum Disorder Due To Auts2 Deficiency
Joint contracture of the hand, Congenital contracture, Arthrogryposis multiplex congenita, Joint ... ORPHA:352490
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Muscular dystrophy, Congenital contracture, Elevated circulating creatine kinase concentration OMIM:236670
Autosomal Recessive Spondylocostal Dysostosis
Abnormal form of the vertebral bodies, Camptodactyly of finger, Congenital diaphragmatic hernia, ... ORPHA:2311
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal canal stenosis OMIM:301900
Uruguay Faciocardiomusculoskeletal Syndrome
Joint contracture of the hand, Kyphoscoliosis, Camptodactyly of toe, Left ventricular hypertrophy... OMIM:300280
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Cardiomyopathy, Congestive heart failure, Generalized limb muscle atrophy, Hand ... ORPHA:98908
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Myopathy ORPHA:257
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Myopathy, Facial palsy, Scoliosis, Aplasia of the pectoralis major muscle ORPHA:1358
Becker Nevus Syndrome
Spina bifida occulta, Scoliosis, Kyphosis, Shoulder girdle muscle atrophy ORPHA:64755
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis ORPHA:276630
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia OMIM:619699
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Athe... ORPHA:280365
Isovaleric Acidemia
Cerebellar hemorrhage OMIM:243500
Serkal Syndrome
Congenital diaphragmatic hernia ORPHA:139466
Jansen-De Vries Syndrome
Small hand, Short foot, Brachydactyly, Central diaphragmatic hernia OMIM:617450
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Limb muscle weakness, Ragged-red muscle fibers, Arrhythmia, Bradycardia, EMG: myo... OMIM:609286
Combined Oxidative Phosphorylation Deficiency 33
Cardiac arrest, Left ventricular hypertrophy, Myopathy, Cardiomyopathy OMIM:617713
Idiopathic Camptocormia
Proximal spinal muscular atrophy, Abnormal muscle fiber dysferlin, Myositis, Fatty replacement of... ORPHA:1320
Xanthinuria, Type I
Myopathy OMIM:278300
Bruck Syndrome
Platyspondyly, Arthrogryposis multiplex congenita, Scoliosis, Kyphosis ORPHA:2771
Hereditary Hemorrhagic Telangiectasia
Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, ... ORPHA:774
Proximal 16P11.2 Microduplication Syndrome
Scoliosis, Congenital diaphragmatic hernia, Hemivertebrae ORPHA:370079
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia ORPHA:2143
Tonne-Kalscheuer Syndrome
Broad thumb, Brachydactyly, Congenital diaphragmatic hernia OMIM:300978
Chylomicron Retention Disease
EMG: myopathic abnormalities, Myopathy ORPHA:71
Flynn-Aird Syndrome
Scoliosis, Kyphosis, Skeletal muscle atrophy ORPHA:2047
Tempi Syndrome
Telangiectasia, Intracranial hemorrhage ORPHA:284227
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Contracture of the proximal interphalangeal joint of the 2nd finger, Contracture of the proximal ... OMIM:130060
Cooper-Jabs Syndrome
Proximal placement of thumb, Congenital diaphragmatic hernia, Camptodactyly of finger ORPHA:1488
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Congenital diaphragmatic ... ORPHA:1120
Congenital Myopathy 9A
EMG: myopathic abnormalities OMIM:618822
Cdkl5-Deficiency Disorder
Scoliosis, Kyphosis ORPHA:505652
Crisponi Syndrome
Flexion contracture, Scoliosis, Kyphosis, Camptodactyly of finger ORPHA:1545
Intellectual Developmental Disorder, Autosomal Dominant 26
Arthrogryposis multiplex congenita, Scoliosis, Kyphosis OMIM:615834
Hypophosphatasia, Infantile
Intracranial hemorrhage, Stillbirth OMIM:241500
Overlap Myositis
Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper limbs, Finger swelling, Ab... ORPHA:206572
Musculocontractural Ehlers-Danlos Syndrome
Atlantoaxial dislocation, Cervical kyphosis, Arthrogryposis multiplex congenita, Decreased muscle... ORPHA:2953
Ehlers-Danlos Syndrome, Classic-Like, 1
Proximal amyotrophy, Muscle fiber splitting OMIM:606408
Localized Scleroderma
Vasculitis, Skeletal muscle atrophy, Myopathy, Stroke, Arrhythmia, Raynaud phenomenon, Flexion co... ORPHA:90289
Arthrogryposis, Distal, Type 4
Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis, Torticollis, Camptodac... OMIM:609128
Menkes Disease
Intracranial hemorrhage OMIM:309400
Malignant Hyperthermia Of Anesthesia
Necrotizing myopathy, Supraventricular tachycardia, High-output congestive heart failure, Exercis... ORPHA:423
Wieacker-Wolff Syndrome
Distal amyotrophy, Arthrogryposis multiplex congenita, Congenital foot contractures, Short neck, ... OMIM:314580
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Lower limb muscle weakness, Mi... ORPHA:746
Neutral Lipid Storage Disease With Ichthyosis
Cardiomyopathy, Shoulder girdle muscle weakness, Myopathy, Increased intramyocellular lipid dropl... ORPHA:98907
Aspergillosis
Stroke, Intracranial hemorrhage ORPHA:1163
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Fetal intraventricular hemorrhage, Limb hypertonia OMIM:618480
Carey-Fineman-Ziter Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Pectoralis hypoplasia, Myopathy, Weakness... OMIM:254940
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
EMG: myopathic abnormalities ORPHA:457365
Neuromuscular Oculoauditory Syndrome
Knee flexion contracture, Elevated circulating creatine kinase concentration, Talipes equinovarus... OMIM:618733
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia ORPHA:95706
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Ulnar deviation of the hand, Congenital diaphragmatic hernia, Metaphyseal wi... OMIM:263210
Sandhoff Disease
Kyphosis ORPHA:796
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Petechiae, Patent ductus arteriosus, Bradycardia OMIM:617397
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
13Q12.3 Microdeletion Syndrome
Camptodactyly, Hemihypotrophy of lower limb, Congenital diaphragmatic hernia ORPHA:412035
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Acys Amyloidosis
Stroke, Cerebral hemorrhage ORPHA:100008
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Quadriceps muscle weakness, Shoulder girdle muscle weakness, Reduced left... ORPHA:254892
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage ORPHA:100006
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis OMIM:618392
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormal femur morphology, Congenital diaphragmatic hernia, Abnormal fibula morphology ORPHA:2063
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Renal artery stenosis, Episodic hypert... OMIM:171300
Barth Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgit... OMIM:302060
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia OMIM:606164
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Joint contracture of the 5th finger, Scoliosis, Kyphosis, Camptodactyly of finger ORPHA:1883
Wiskott-Aldrich Syndrome
Gingival bleeding, Vasculitis, Hematochezia, Epistaxis, Bruising susceptibility, Spontaneous hema... ORPHA:906
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Kyphosis ORPHA:2429
Cystinosis
Portal hypertension, Myopathy ORPHA:213
Multiple Endocrine Neoplasia, Type Iib
Kyphosis, Scoliosis, Hyperlordosis, Myopathy OMIM:162300
15Q24 Microdeletion Syndrome
Small hand, Clinodactyly, Abnormal thumb morphology, Congenital diaphragmatic hernia, Brachydacty... ORPHA:94065
Acquired Generalized Lipodystrophy
Cardiomyopathy, Abnormal cardiovascular system physiology, Myopathy, Hypertension, Calf muscle ps... ORPHA:79086
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Congestive heart failure, Petechiae, Myopathy, Hypertension, Purpura ORPHA:85450
Mosaic Variegated Aneuploidy Syndrome
Clinodactyly of the 5th finger, Muscular dystrophy, Rhabdomyosarcoma ORPHA:1052
Dystonia 1, Torsion, Autosomal Dominant
Multiple joint contractures, Hyperlordosis, Torticollis, Facial palsy, Scoliosis, Kyphosis OMIM:128100
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Congenital muscular torticollis, Hypoplastic vertebral bod... ORPHA:2916
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:276621
Congenital Myasthenic Syndrome
Spinal rigidity, Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Kyp... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Spinal rigidity, Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Kyp... ORPHA:98914
Polymyositis
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology ORPHA:732
1Q41Q42 Microdeletion Syndrome
Talipes equinovarus, Congenital diaphragmatic hernia ORPHA:250999
Mucolipidosis Iii Gamma
Claw hand deformity, Short neck, Hyperlordosis, Finger joint contracture, Shoulder contracture, S... OMIM:252605
Alpha-Mannosidosis
Macroglossia, Short neck, Scoliosis, Kyphosis ORPHA:61
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Kyphosis, Myopathy OMIM:615512
Neurocutaneous Melanocytosis
Intracranial hemorrhage ORPHA:2481
Kleefstra Syndrome 2
Scoliosis, Kyphosis OMIM:617768
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Abnormal form of the vertebral bodies, Myopathy, Hip contracture, Posterior scalloping of vertebr... ORPHA:3042
Xp21 Deletion Syndrome
Myopathy, Calf muscle hypertrophy, Decreased muscle mass ORPHA:261476
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Kyphosis ORPHA:1548
1P31P32 Microdeletion Syndrome
Moyamoya phenomenon, Intraventricular hemorrhage ORPHA:401986
Developmental Malformations-Deafness-Dystonia Syndrome
Macroglossia, Scoliosis, Kyphosis ORPHA:79107
Immunodeficiency 9
Myopathy OMIM:612782
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke ORPHA:447788
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Kyphosis ORPHA:85317
Pericardial And Diaphragmatic Defect
Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm ORPHA:2847
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Kyphosis, Knee flexion contracture, Thoracic scoliosis OMIM:603387
Usher Syndrome
Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology, Myopathy ORPHA:886
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension OMIM:614424
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Abnormality of the vertebra... ORPHA:93314
Combined Oxidative Phosphorylation Deficiency 55
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy OMIM:619743
Zaki Syndrome
Broad distal phalanx of finger, Toe syndactyly, Ectrodactyly, Hypoplasia of the phalanges of the ... OMIM:619648
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Petechiae, Ecchymosis, H... ORPHA:340
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Immunodeficiency 10
Myopathy OMIM:612783
Sialidosis Type 1
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Skeletal muscle atrophy ORPHA:812
Weismann-Netter Syndrome
Scoliosis, Horizontal sacrum, Kyphosis OMIM:112350
Hall-Riggs Syndrome
Platyspondyly, Scoliosis, Kyphosis, Irregular vertebral endplates OMIM:234250
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Scoliosis, Kyphosis ORPHA:2075
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Weakness of facial musculature, Short neck, Achilles tendon contracture, Flexion... OMIM:301041
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Aplasia of the left hemidiaphragm, 2-3 fin... ORPHA:2437
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Elbow flexion contracture, Hip contracture, Knee flexion contracture, Short neck, Scoliosis, EMG:... ORPHA:371364
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Ragged-red muscle fibers... ORPHA:17
Sanjad-Sakati Syndrome
Spinal canal stenosis, Myopathy ORPHA:2323
Paramyotonia Congenita Of Von Eulenburg
EMG: myopathic abnormalities, Facial muscle hypertrophy ORPHA:684
Menkes Disease
Gastrointestinal hemorrhage, Spontaneous hematomas, Arterial stenosis, Venous insufficiency, Apla... ORPHA:565
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Atlantoaxial instability, Skeletal muscle atrophy, Type 1 muscle fiber predominance, Myopathy, Ky... OMIM:614557
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage OMIM:618886
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Limb hypertonia, Kyphosis ORPHA:500180
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:615287
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage, Decreased muscle mass OMIM:616507
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal lymphatic vessel morphology, Ecch... ORPHA:464329
Melas
Dilated cardiomyopathy, Cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hypertrophic card... ORPHA:550
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Scoliosis, Hyperlordosis, Sacral dimple OMIM:615761
Schwartz-Jampel Syndrome
Platyspondyly, Flexion contracture of toe, Skeletal muscle atrophy, Arthrogryposis multiplex cong... ORPHA:800
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Subdural hemorrhage, Bruising susceptibility, Arterial rupture, Myopathy... ORPHA:536545
Combined Immunodeficiency Due To Crac Channel Dysfunction
Myopathy ORPHA:169090
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bundle branch block, Hemoth... ORPHA:99827
Nelson Syndrome
Quadriceps muscle atrophy, Intracranial hemorrhage, Hypertension, Lower limb muscle weakness ORPHA:199244
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Elbow flexion contracture, Increased muscle lipid content, Knee flexion c... OMIM:608836
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Macroglossia, Distal lower limb amyotrophy, Kyphosis OMIM:300354
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Cardiomyopathy OMIM:251000
Frank-Ter Haar Syndrome
Beaking of vertebral bodies, Scoliosis, Kyphosis, Camptodactyly of finger ORPHA:137834
Carnitine Palmitoyltransferase Ii Deficiency
Arrhythmia, Myopathy, Rhabdomyolysis, Cardiomyopathy ORPHA:157
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Pulmonary embolism, Arteriovenous malformation, Subcutaneous hemorrh... ORPHA:394
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Aortic root aneurysm, Congestive heart failure, Aortic atherosclerotic les... ORPHA:363618
2Q37 Microdeletion Syndrome
Small hand, Toe syndactyly, Finger syndactyly, Congenital diaphragmatic hernia, Brachydactyly, Cl... ORPHA:1001
Ataxia-Telangiectasia-Like Disorder 2
Congenital diaphragmatic hernia, Joint contracture OMIM:615919
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Finger syndactyly, Congenital diaphragmatic hernia, Hand polydact... ORPHA:1647
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Abnormal muscle fiber morphology, Lower limb muscle weakness, Hypomagnesemi... ORPHA:79102
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Kyphosis ORPHA:1858
Schaaf-Yang Syndrome
Camptodactyly, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Kyphosis OMIM:615547
Superficial Siderosis
Abnormal bleeding, Arteriovenous malformation, Lower limb muscle weakness, Abnormal vertebral art... ORPHA:247245
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia ORPHA:1915
Craniorachischisis
Sirenomelia, Congenital diaphragmatic hernia ORPHA:63260
Mirage Syndrome
Petechiae, Intracranial hemorrhage, Patent ductus arteriosus OMIM:617053
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... OMIM:313400
Axial Mesodermal Dysplasia Spectrum
Abnormal form of the vertebral bodies, Congenital diaphragmatic hernia, Vertebral segmentation de... ORPHA:1834
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Tricuspid regurgitation, Retinal arterial tortuosity, Vitreous hemorrhage, Limb hypertonia, Cereb... OMIM:620371
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Kyphosis OMIM:610743
Hereditary Xanthinuria
Myopathy ORPHA:3467
Autosomal Recessive Ataxia, Beauce Type
Scoliosis, Kyphosis, Lower limb muscle weakness, Skeletal muscle atrophy ORPHA:88644
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Kyphosis OMIM:300861
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Subdural hemorrhage, Skeletal muscle hypertrophy OMIM:619714
Acro-Renal-Mandibular Syndrome
Butterfly vertebrae, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Scoliosis, Kyphosis ORPHA:958
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:29072
Basilar Impression, Primary
Short neck, Limb muscle weakness, Kyphoscoliosis OMIM:109500
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial dissection, Abnormal bleeding, Aortic dissection, Abnormal venous morphology, Congestive... ORPHA:1900
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Camptodactyly of finger, S... ORPHA:628
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:253280
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Kyphosis, Lower limb hypertonia OMIM:169400
Tarp Syndrome
Tetralogy of Fallot, Subdural hemorrhage, Neonatal death OMIM:311900
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pulmonary embolism, Skeletal muscle atrophy, Congestive heart failure, Tr... ORPHA:3260
Sjögren-Larsson Syndrome
Scoliosis, Kyphosis ORPHA:816
Microcephalic Primordial Dwarfism, Montreal Type
Scoliosis, Kyphosis, Vertebral segmentation defect ORPHA:2617
Mosaic Trisomy 1
Hand clenching, Toe syndactyly, Broad 2nd toe, Camptodactyly of finger, Elbow flexion contracture... ORPHA:1692
Trisomy 1Q
Toe syndactyly, Preaxial hand polydactyly, Camptodactyly of finger, Congenital diaphragmatic hern... ORPHA:261344
Hypomelanosis Of Ito
Scoliosis, Kyphosis OMIM:300337
Rett Syndrome
Scoliosis, Kyphosis, Skeletal muscle atrophy OMIM:312750
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Scoliosis, Kyphosis OMIM:259440
Emanuel Syndrome
Congenital diaphragmatic hernia, Torticollis, Joint contracture, Scoliosis, Kyphosis, Sacral dimple OMIM:609029
Seckel Syndrome 9
Talipes equinovarus, Congenital diaphragmatic hernia OMIM:616777
Urban-Rogers-Meyer Syndrome
Short neck, Kyphosis, Camptodactyly of finger, Flexion contracture of toe ORPHA:3409
Matthew-Wood Syndrome
Congenital diaphragmatic hernia ORPHA:2470
Marden-Walker Syndrome
Joint contracture of the hand, Congenital contracture, Decreased muscle mass, Short neck, Camptod... OMIM:248700
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Scoliosis, Kyphosis, Joint contracture OMIM:615381
Intellectual Disability-Strabismus Syndrome
Joint contracture of the hand, Congenital diaphragmatic hernia, Talipes equinovarus, Achilles ten... ORPHA:363528
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Cockayne Syndrome Type 3
Vascular calcification, Aortic root aneurysm, Subdural hemorrhage, Cardiomyopathy, Premature coro... ORPHA:90324
X-Linked Intellectual Disability Due To Gria3 Mutations
Facial hypotonia, Abnormality of muscle size, Scoliosis, Kyphosis ORPHA:364028
Chromosome 1Q41-Q42 Deletion Syndrome
Talipes equinovarus, Sandal gap, Congenital diaphragmatic hernia, 3-4 finger cutaneous syndactyly OMIM:612530
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy, Kyphosis OMIM:219080
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Platyspondyly, Thoracolumbar kyphosis, Elbow flexion contracture, Kyphoscoliosis, Abnormal curvat... ORPHA:93360
Neutral Lipid Storage Disease With Myopathy
Myopathy, Increased muscle lipid content, Cardiomyopathy OMIM:610717
Fucosidosis
Anterior beaking of lumbar vertebrae, Kyphosis, Decreased muscle mass ORPHA:349
Brown-Vialetto-Van Laere Syndrome 1
Skeletal muscle atrophy, Hand muscle atrophy, Facial palsy, Scoliosis, Kyphosis OMIM:211530
Foxg1 Syndrome Due To 14Q12 Microdeletion
Macroglossia, Scoliosis, Kyphosis ORPHA:261144
Lopes-Maciel-Rodan Syndrome
Scoliosis, Kyphosis OMIM:617435
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Scoliosis, Kyphosis OMIM:619797
Congenital Myopathy 17
Distal arthrogryposis, Myopathy, Diaphragmatic eventration OMIM:618975
Hurler-Scheie Syndrome
Camptodactyly of finger, Contracture of the distal interphalangeal joint of the fingers, Thenar m... OMIM:607015
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Abnormal EKG, Stroke, Arrhythmia, Prolonged QT interval, Acute rhabdomyolysis, EMG: myopathic abn... ORPHA:480864
Leigh Syndrome
Skeletal muscle atrophy, Congestive heart failure, Hypertrophic cardiomyopathy, Multiple joint co... ORPHA:506
Brachyolmia Type 3
Platyspondyly, Short neck, Scoliosis, Kyphosis OMIM:113500
Diamond-Blackfan Anemia 10
Morgagni diaphragmatic hernia, Congenital diaphragmatic hernia OMIM:613309
Hellp Syndrome
Hypotension, Internal hemorrhage, Prolonged prothrombin time, Cerebral hemorrhage ORPHA:244242
Mucopolysaccharidosis, Type Iva
Platyspondyly, Hypoplasia of the odontoid process, Lumbar kyphosis, Short neck, Hyperlordosis, An... OMIM:253000
Mucopolysaccharidosis, Type Vii
Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo... OMIM:253220
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Diaphragmatic eventration OMIM:222448
Stromme Syndrome
Myopathy, Stillbirth OMIM:243605
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Macroglossia, Lower limb muscle weakness, Hypertrophic cardiomyopathy, Dilatation of ... ORPHA:365
Wolfram Syndrome
Gastrointestinal hemorrhage, Myopathy, Cardiomyopathy ORPHA:3463
Multiple Pterygium Syndrome, Escobar Variant
Diaphragmatic eventration, Anterior clefting of vertebral bodies, Arthrogryposis multiplex congen... OMIM:265000
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Subarachnoid hemorrhage, Cerebral vasculitis OMIM:243700
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Kyphosis OMIM:300676
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage OMIM:301081
Pentalogy Of Cantrell
Abnormal tibia morphology, Aplasia/Hypoplasia of the radius, Split hand, Congenital diaphragmatic... ORPHA:1335
Arachnoid Cyst
Subarachnoid hemorrhage, Facial palsy, Lower limb muscle weakness ORPHA:2356
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Mitral regurgitation, Myopathy, Pulmonary arterial hypertension, Prominent superficial veins, Var... OMIM:612541
Mucopolysaccharidosis Type 6
Macroglossia, Short neck, Kyphosis, Ovoid vertebral bodies ORPHA:583
Congenital Heart Defects And Skeletal Malformations Syndrome
Sandal gap, Congenital diaphragmatic hernia, Arachnodactyly, Camptodactyly, Clinodactyly of the 5... OMIM:617602
8P23.1 Microdeletion Syndrome
Broad thumb, Congenital diaphragmatic hernia, Proximal placement of thumb, Broad hallux phalanx, ... ORPHA:251071
Proximal 16P11.2 Microdeletion Syndrome
Hand polydactyly, Congenital diaphragmatic hernia ORPHA:261197
Pontocerebellar Hypoplasia, Type 17
Limb hypertonia, Kyphosis OMIM:619909
3M Syndrome
Increased vertebral height, Short neck, Hyperlordosis, Scapular winging, Scoliosis, Kyphosis ORPHA:2616
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Scoliosis, Kyphosis ORPHA:2181
Baralle-Macken Syndrome
Kyphosis OMIM:619255
Halperin-Birk Syndrome
Talipes equinovarus, Flexion contracture, Congenital diaphragmatic hernia OMIM:618651
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Hyperlordosis ORPHA:3085
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short neck, Kyphosis, Hyperlordosis, Fused cervical vertebrae ORPHA:2522
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia OMIM:611812
Glutaryl-Coa Dehydrogenase Deficiency
Retinal hemorrhage, Subdural hemorrhage ORPHA:25
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time, Neonatal death OMIM:619055
Pituitary Adenoma 4, Acth-Secreting
Vertebral compression fracture, Skeletal muscle atrophy, Kyphosis, Biconcave vertebral bodies OMIM:219090
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Scoliosis, Kyphosis ORPHA:464282
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia, Neonatal death OMIM:194080
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension ORPHA:90795
Dysostosis, Stanescu Type
Short neck, Hyperlordosis, Macroglossia, Scoliosis, Kyphosis ORPHA:1798
Emanuel Syndrome
Multiple joint contractures, Congenital diaphragmatic hernia, Kyphoscoliosis, Scoliosis, Sacral d... ORPHA:96170
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Rhizomelia, Sandal gap, Flared metaphysis, Elbow flexion contracture, Genu v... OMIM:245600
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia ORPHA:2409
Dpagt1-Cdg
Stroke-like episode, Camptodactyly, Prolonged QT interval, Intracranial hemorrhage, Flexion contr... ORPHA:86309
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Short neck, Congenital diaphragmatic hernia, Hemivertebrae ORPHA:1780
Cockayne Syndrome Type 2
Flexion contracture, Scoliosis, Kyphosis, Limb hypertonia ORPHA:90322
Rhizomelic Syndrome, Urbach Type
Short neck, Kyphosis, Abnormal form of the vertebral bodies ORPHA:3098
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Alg1-Cdg
Scoliosis, Kyphosis ORPHA:79327
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia OMIM:313850
Cutis Laxa, Autosomal Recessive, Type Ia
Arachnodactyly, Congenital diaphragmatic hernia OMIM:219100
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Scoliosis, Kyphosis, Limb hypertonia OMIM:617190
Alpha-Mannosidosis, Infantile Form
Platyspondyly, Myopathy, Short neck, Facial hypotonia, Macroglossia ORPHA:309282
4Q21 Microdeletion Syndrome
Short neck, Scoliosis, Kyphosis ORPHA:238750
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Aortic regurgitation, Carotid artery occlusion, Atherosclerosis, Transient... ORPHA:740
Oculoauriculovertebral Spectrum With Radial Defects
EMG: myopathic abnormalities ORPHA:2549
Vici Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Myopathy, Left ventricular hype... OMIM:242840
Smith-Mccort Dysplasia 1
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Short neck, Beaking ... OMIM:607326
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Heart murmur, Intracranial hemorrhage, Patent ductus arteriosus ORPHA:163979
Idiopathic Juvenile Osteoporosis
Vertebral compression fracture, Kyphosis ORPHA:85193
Abetalipoproteinemia
Distal lower limb muscle weakness, Myopathy, Kyphoscoliosis ORPHA:14
Vacterl/Vater Association
Finger syndactyly, Aplasia/Hypoplasia of the radius, Congenital diaphragmatic hernia, Preaxial ha... ORPHA:887
Oligomeganephronia
Elevated circulating creatinine concentration, Congenital diaphragmatic hernia ORPHA:2260
Gm1 Gangliosidosis
Platyspondyly, Abnormal form of the vertebral bodies, Camptodactyly of finger, Aplasia/Hypoplasia... ORPHA:354
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage OMIM:616430
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Camptodactyly, Flexion contracture of finger, Scoliosis, Kyphosis ORPHA:88628
Ruvalcaba Syndrome
Scoliosis, Kyphosis OMIM:180870
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Scoliosis, Kyphosis, Skeletal muscle atrophy ORPHA:1969
Subaortic Stenosis-Short Stature Syndrome
Short neck, Scoliosis, Kyphosis ORPHA:3191
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple OMIM:618272
Lateral Meningocele Syndrome
Decreased muscle mass, Biconcave vertebral bodies, Short neck, Vertebral fusion, Scoliosis, Kyphosis OMIM:130720
Clark-Baraitser syndrome
Scoliosis, Kyphosis OMIM:300602
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Stroke, Pulmonary arterial hyper... ORPHA:79282
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis OMIM:615433
19P13.12 Microdeletion Syndrome
Arthrogryposis multiplex congenita, Short neck, Scoliosis, Kyphosis ORPHA:254346
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Camptodactyly of finger, Congenital ... ORPHA:2215
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scoliosis, Kyphosis, Scapular winging OMIM:617061
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Kyphosis, Lumbar hyperlordosis, Short neck, Cervical instability, Scoliosis, Back ... ORPHA:94068
Thanatophoric Dysplasia
Platyspondyly, Abnormal sacroiliac joint morphology, Kyphosis ORPHA:2655
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Lumbar hyperlordosis... OMIM:183900
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage ORPHA:79284
Medulloblastoma
Cerebellar hemorrhage ORPHA:616
Acute Transverse Myelitis
Upper limb muscle weakness, Distal lower limb muscle weakness, Subarachnoid hemorrhage, Orthostat... ORPHA:139417
Atypical Rett Syndrome
Scoliosis, Kyphosis ORPHA:3095
White-Sutton Syndrome
Facial hypotonia, Broad thumb, Brachydactyly, Congenital diaphragmatic hernia OMIM:616364
Microform Holoprosencephaly
Scoliosis, EMG: myopathic abnormalities ORPHA:280200
Meningioma
Upper limb muscle weakness, Lower limb muscle weakness, Syncope, Cerebral hemorrhage, Facial palsy ORPHA:2495
Acrorenal-Mandibular Syndrome
Toe syndactyly, Rudimentary fibula, Elbow flexion contracture, Rudimentary to absent tibiae, Cong... OMIM:200980
Dyggve-Melchior-Clausen Disease
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Short neck, Beaking of v... OMIM:223800
Microphthalmia, Syndromic 9
Neonatal death, Congenital diaphragmatic hernia, Diaphragmatic eventration OMIM:601186
Mycophenolate Mofetil Embryopathy
Foot polydactyly, Congenital diaphragmatic hernia, Short palm ORPHA:268249
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitation, Dilatation of the si... OMIM:613795
Stickler Syndrome, Type I
Platyspondyly, Spondylolisthesis, Morbus Scheuermann, Beaking of vertebral bodies, Scoliosis, Kyp... OMIM:108300
Craniofrontonasal Syndrome
Toe syndactyly, Broad hallux, Congenital diaphragmatic hernia, Brachydactyly, Clinodactyly of the... OMIM:304110
Chromosome 15Q25 Deletion Syndrome
Congenital diaphragmatic hernia, Long fingers OMIM:614294
Hydranencephaly
Dilatation of the ventricular cavity, Antenatal intracerebral hemorrhage, Abnormal internal carot... ORPHA:2177
Congenital Fiber-Type Disproportion Myopathy
Ankle flexion contracture, Hypoplasia of the musculature, Shoulder girdle muscle weakness, Elbow ... ORPHA:2020
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Elbow... ORPHA:508533
Trisomy 9P
Short neck, Scoliosis, Kyphosis, Sacral dimple ORPHA:236
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Micromelia, Congenital diaphragmatic hernia, Preaxial polydactyly OMIM:616546
Difference Of Sex Development-Intellectual Disability Syndrome
Spina bifida occulta, Short neck, Kyphosis ORPHA:2983
Arterial Tortuosity Syndrome
Arachnodactyly, Flexion contracture, Congenital diaphragmatic hernia OMIM:208050
Focal Dermal Hypoplasia
Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Camptodactyly of finger,... ORPHA:2092
Achondroplasia
Thoracolumbar kyphosis, Cervical spinal canal stenosis, Lumbar hyperlordosis, Spinal canal stenos... ORPHA:15
Desbuquois Dysplasia 1
Platyspondyly, Short neck, Hyperlordosis, Scoliosis, Kyphosis OMIM:251450
Alkaptonuria
Thickened Achilles tendon, Intervertebral disk degeneration, Low back pain, Vertebral fusion, Kyp... OMIM:203500
Acrofacial Dysostosis 1, Nager Type
Toe syndactyly, Absent thumb, Clinodactyly, Short toe, Radial deviation of finger, Foot oligodact... OMIM:154400
Acute Liver Failure
Hypotension, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Prol... ORPHA:90062
Mucopolysaccharidosis, Type Ivb
Platyspondyly, Hypoplasia of the odontoid process, Hyperlordosis, Cervical subluxation, Scoliosis... OMIM:253010
Pseudoachondroplasia
Platyspondyly, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Lumbar hyperlordosis... OMIM:177170
Thanatophoric Dysplasia Type 2
Platyspondyly, Kyphosis ORPHA:93274
Coffin-Lowry Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Skeletal muscle atrophy ORPHA:192
Perlman Syndrome
Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia OMIM:267000
Mucopolysaccharidosis Type 4
Platyspondyly, Spinal canal stenosis, Short neck, Hyperlordosis, Scoliosis, Kyphosis ORPHA:582
Srd5A3-Cdg
Abnormal sacrum morphology, Kyphosis ORPHA:324737
Fryns Syndrome
Clinodactyly of the 5th finger, Short distal phalanx of finger, Congenital diaphragmatic hernia ORPHA:2059
Mucopolysaccharidosis, Type Ii
Macroglossia, Short neck, Flexion contracture, Kyphosis OMIM:309900
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Elbow flexion contracture, Scoliosis, Kyphosis, Hip contracture OMIM:618493
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage ORPHA:91350
Hurler Syndrome
Hypoplasia of the odontoid process, Biconcave vertebral bodies, Short neck, C1-C2 subluxation, Ma... OMIM:607014
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Intraventricular hemorrhage OMIM:613603
Fountain Syndrome
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3219
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Platyspondyly, Thoracolumbar kyphosis, Thoracic platyspondyly, Knee flexion contracture, Thoracol... OMIM:618019
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormality of the vertebral column, Hemivertebrae, Abnormal intervertebral disk morphology, Scol... ORPHA:2062
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Scoliosis, Kyphosis, Camptodactyly of finger OMIM:619951
White-Sutton Syndrome
Facial hypotonia, Congenital diaphragmatic hernia ORPHA:468678
Trisomy 20P
Platyspondyly, Abnormal form of the vertebral bodies, Camptodactyly of finger, Vertebral segmenta... ORPHA:261318
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Scoliosis, Kyphosis ORPHA:3121
Distal Triplication 15Q
Camptodactyly, Flexion contracture, Scoliosis, Kyphosis ORPHA:314588
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Short neck, Kyphosis ORPHA:3082
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Short distal phalanx of finger, Congenital diaphragmatic hernia OMIM:614080
Viss Syndrome
Iliac artery aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Bruising susceptibility, ... OMIM:619472
Dermatomyositis
Vasculitis, Sinus tachycardia, Inflammatory myopathy, EMG: myopathic abnormalities, Myositis, Arr... ORPHA:221
Osteogenesis Imperfecta
Aortic regurgitation, Arterial dissection, Aortic root aneurysm, Aortic dissection, Bruising susc... ORPHA:666
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Kyphosis, Scoliosis, Thoracolumbar scoliosis, Hyperlordosis OMIM:618443
Osteogenesis Imperfecta, Type Iii
Scoliosis, Kyphosis, Biconcave vertebral bodies OMIM:259420
Koolen-De Vries Syndrome
Spondylolisthesis, Hypotrophy of the small hand muscles, Vertebral fusion, Scoliosis, Kyphosis, S... OMIM:610443
Marfanoid Habitus With Situs Inversus
Scoliosis, Kyphosis OMIM:609008
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Bilateral camptodactyly, Scoliosis, Kyphosis OMIM:619557
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Facial paralysis, Retinal arteriolar tortuosity, Ischemic strok... OMIM:175780
Microphthalmia, Lenz Type
Kyphosis, Scoliosis, Hyperlordosis, Camptodactyly of finger ORPHA:568
Poland Syndrome
Small hand, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent hand, Congenital diaphrag... ORPHA:2911
Congenital Disorder Of Glycosylation, Type Il
Short neck, Kyphosis OMIM:608776
Iniencephaly
Rhizomelia, Congenital diaphragmatic hernia, Talipes equinovarus, Rocker bottom foot, Arthrogrypo... ORPHA:63259
Trisomy 13
Scoliosis, Kyphosis ORPHA:3378
Gm1-Gangliosidosis, Type I
Hypoplastic vertebral bodies, Short neck, Beaking of vertebral bodies, Scoliosis, Kyphosis OMIM:230500
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Flexion contracture, Scoliosis, Kyphosis ORPHA:500055
X-Linked Intellectual Disability, Cabezas Type
Short neck, Scoliosis, Kyphosis, Camptodactyly of finger ORPHA:85293
Noonan Syndrome 14
Short neck, Kyphosis, Scapular winging OMIM:619745
Williams Syndrome
Mitral regurgitation, Myopathy, Overriding aorta, Patent ductus arteriosus, Hypertrophic cardiomy... ORPHA:904
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Hand muscle atrophy, Aortic aneurysm, Intraventricular hemorrhage, Pulmonic stenosis ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Hand muscle atrophy, Aortic aneurysm, Intraventricular hemorrhage, Pulmonic stenosis ORPHA:363958
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Kyphosis, Caudal interpedicular narrowing, Scoliosis, Posterior scalloping of vertebral bodies, I... OMIM:603546
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Hemivertebrae, Macroglossia, Scoliosis, Kyphosis OMIM:301040
Riddle Syndrome
Telangiectasia, Intraventricular hemorrhage, Conjunctival telangiectasia ORPHA:420741
Developmental Delay With Or Without Dysmorphic Facies And Autism
2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, Short foot, Congenital diaphragmati... OMIM:618454
1P36 Deletion Syndrome
Spinal canal stenosis, Camptodactyly of finger, Myopathy, Scoliosis, Kyphosis ORPHA:1606
Cornelia De Lange Syndrome 1
Finger aplasia, Micromelia, Elbow flexion contracture, Hypoplastic radial head, Congenital diaphr... OMIM:122470
Hydrolethalus Syndrome 1
Stillbirth, Preaxial hand polydactyly, Upper limb undergrowth, Talipes equinovarus, Agenesis of t... OMIM:236680
Lateral Meningocele Syndrome
Abnormal form of the vertebral bodies, Short neck, Hyperlordosis, Scoliosis, Kyphosis ORPHA:2789
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Radioulnar synostosis, Camptodactyly, Clinodactyly of the 5th fi... ORPHA:1272
Trisomy 18
Postaxial hand polydactyly, Deviation of finger, Congenital diaphragmatic hernia, Camptodactyly o... ORPHA:3380
3C Syndrome
Short neck, Scoliosis, Kyphosis, Hemivertebrae ORPHA:7
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Scoliosis, Kyphosis ORPHA:261190
Meacham Syndrome
Congenital diaphragmatic hernia ORPHA:3097
Weaver Syndrome
Joint contracture of the hand, Diastasis recti, Camptodactyly, Scoliosis, Kyphosis OMIM:277590
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Scoliosis, Kyphosis ORPHA:404440
Neurodegeneration With Brain Iron Accumulation 1
Myopathy, Decreased muscle mass OMIM:234200
Pelizaeus-Merzbacher Disease
Scoliosis, Kyphosis ORPHA:702
2P15P16.1 Microdeletion Syndrome
Facial palsy, Scoliosis, Kyphosis, Camptodactyly of finger ORPHA:261349
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Lumbar hyperlordosis, Kyphosis, Neonatal death OMIM:616482
Distal 16P11.2 Microdeletion Syndrome
Kyphosis ORPHA:261222
Kabuki Syndrome
Abnormal form of the vertebral bodies, Butterfly vertebrae, Congenital diaphragmatic hernia, Vert... ORPHA:2322
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Limb Body Wall Complex
Broad hallux, Aplasia of the proximal phalanges of the hand, Cutaneous finger syndactyly, Diastas... ORPHA:2369
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Kyphosis, Hypomimic face OMIM:617527
Cardiofacioneurodevelopmental Syndrome
Camptodactyly, Kyphosis OMIM:619123
Diets-Jongmans Syndrome
Congenital diaphragmatic hernia OMIM:618846
Distal Deletion 15Q
2-3 toe cutaneous syndactyly, Short distal phalanx of finger, Small hand, Finger clinodactyly, Sh... ORPHA:1596
Cole-Carpenter Syndrome
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2050
Thanatophoric Dysplasia Type 1
Platyspondyly, Abnormal sacroiliac joint morphology, Kyphosis ORPHA:1860
Fliedner-Zweier Syndrome
Scoliosis, Kyphosis OMIM:620511
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Abnormality of the vertebral column, Abnormal form of the vertebra... ORPHA:280
Mullegama-Klein-Martinez Syndrome
Clinodactyly of the 5th finger, Facial palsy, Congenital diaphragmatic hernia, Polydactyly OMIM:301022
Simpson-Golabi-Behmel Syndrome
Toe syndactyly, Broad thumb, Finger syndactyly, Short toe, Camptodactyly of finger, Clinodactyly ... ORPHA:373
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Scoliosis, Kyphosis, Vertebral segmentation defect ORPHA:1005
Harrod Syndrome
Scoliosis, Kyphosis ORPHA:2115
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Witteveen-Kolk Syndrome
Contracture of the distal interphalangeal joint of the 4th finger, Intracranial hemorrhage, Conge... OMIM:613406
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia OMIM:309801
Choreoacanthocytosis
Peroneal muscle atrophy, Muscle fiber atrophy, Distal amyotrophy, Myopathy ORPHA:2388
Koolen-De Vries Syndrome
Vertebral fusion, Scoliosis, Kyphosis, Vertebral segmentation defect ORPHA:96169
Alexander Disease
Short neck, Hyperlordosis, Facial palsy, Scoliosis, Kyphosis ORPHA:58
Jaberi-Elahi Syndrome
Scoliosis, Kyphosis OMIM:617988
Plaa-Associated Neurodevelopmental Disorder
Contractures of the large joints, Limb hypertonia, Kyphosis ORPHA:521426
Smith-Lemli-Opitz Syndrome
Rhizomelia, Aplasia/Hypoplasia of the radius, Postaxial foot polydactyly, Finger syndactyly, Ulna... ORPHA:818
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Small hand, Clinodactyly, Broad hallux, Contracture of the proximal interphalangeal joint of the ... OMIM:301044
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Contracture of the proximal interphalangeal joint of the 3rd finger, Short neck, Hemivertebrae, C... OMIM:618223
Cystinosis, Nephropathic
Skeletal muscle atrophy, Myopathy OMIM:219800
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis, Scapular winging OMIM:616914
Holt-Oram Syndrome
Scoliosis, Kyphosis ORPHA:392
Pycnodysostosis
Spondylolysis, Spondylolisthesis, Hyperlordosis, Scoliosis, Kyphosis ORPHA:763
Cole-Carpenter Syndrome 2
Platyspondyly, Kyphosis OMIM:616294
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small hypothenar eminence, Lumbar hyperlordosis, Contracture of the proximal interphalangeal join... ORPHA:2232
Spondyloperipheral Dysplasia
Platyspondyly, Short neck, Kyphosis, Ovoid vertebral bodies, Irregular vertebral endplates OMIM:271700
Monosomy 9P
Abnormality of the tarsal bones, Proximal placement of thumb, Congenital diaphragmatic hernia, Po... ORPHA:261112
Autosomal Recessive Spastic Paraplegia Type 35
Foot dorsiflexor weakness, Kyphosis, Lower limb hypertonia ORPHA:171629
2Q31.1 Microdeletion Syndrome
Camptodactyly of finger, Vertebral segmentation defect, Short neck, Scoliosis, Kyphosis ORPHA:251014
Postencephalitic Parkinsonism
Camptocormia, Kyphosis ORPHA:97349
Pagod Syndrome
Congenital diaphragmatic hernia ORPHA:991
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Elbow flexion contracture, Hip contracture, Knee flexion contracture, Short neck, Macroglossia, S... OMIM:619194
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Scoliosis, Kyphosis OMIM:166220
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Long fingers ORPHA:96121
Holoprosencephaly
Hyponatremia, Hand polydactyly, Brachydactyly, Congenital diaphragmatic hernia ORPHA:2162
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Platyspondyly, Kyphosis OMIM:618476
Prader-Willi Syndrome
Scoliosis, Kyphosis, Decreased muscle mass OMIM:176270
Monosomy 9Q22.3
Short neck, Abnormality of the vertebral column, Kyphosis, Rhabdomyosarcoma ORPHA:77301
Loeys-Dietz Syndrome 6
Camptodactyly, Arachnodactyly, Congenital diaphragmatic hernia OMIM:619656
Cono-Spondylar Dysplasia
Short neck, Scoliosis, Kyphosis ORPHA:420794
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Hypoplasia of the diaphragm, Arachnodactyly, Bowing of the long ... OMIM:614437
C Syndrome
Toe syndactyly, Micromelia, Congenital diaphragmatic hernia, Hand polydactyly, Aplasia/Hypoplasia... ORPHA:1308
Robinow Syndrome, Autosomal Dominant 3
Short neck, Camptodactyly, Scoliosis, Kyphosis, Sacral dimple OMIM:616894
Basel-Vanagaite-Smirin-Yosef Syndrome
Scoliosis, Kyphosis OMIM:616449
Congenital Disorder Of Glycosylation, Type Ia
Flexion contracture, Kyphosis OMIM:212065
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Camptodactyly of finger, Lumbar hyperlordosis, Intervertebral space narrowing, Narrow vertebral i... OMIM:143095
Magel2-Related Prader-Willi-Like Syndrome
Flexion contracture, Scoliosis, Kyphosis ORPHA:398069
Camurati-Engelmann Disease
Skeletal muscle atrophy, Abnormality of the vertebral column, Hyperlordosis, Facial palsy, Scolio... ORPHA:1328
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Congenital diaphragmatic hernia OMIM:617641
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia ORPHA:2745
Megalocornea-Intellectual Disability Syndrome
Scoliosis, Kyphosis ORPHA:2479
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Cerebral hemorrhage OMIM:616682
Mucolipidosis Iii Alpha/Beta
Kyphosis, Scoliosis, Spondylolisthesis OMIM:252600
Intellectual Developmental Disorder, Autosomal Dominant 57
Scoliosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger OMIM:618050
X-Linked Intellectual Disability, Snyder Type
Camptodactyly, Kyphosis, Decreased muscle mass, Kyphoscoliosis ORPHA:3063
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia OMIM:273395
Basel-Vanagaite-Smirin-Yosef Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Scoliosis, Kyphosis ORPHA:464738
Micro Syndrome
Scoliosis, Kyphosis ORPHA:2510
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Prominent protruding coccyx, Short neck, Prominent coccyx, Scoliosis, Kyphosis, Sacral dimple OMIM:300966
Campomelic Dysplasia
Short neck, Scoliosis, Kyphosis, Poorly ossified cervical vertebrae ORPHA:140
Cowden Syndrome 5
Scoliosis, Kyphosis OMIM:615108
Intellectual Developmental Disorder, Autosomal Dominant 73
Lumbar hyperlordosis, Knee flexion contracture, Thoracolumbar scoliosis, Hyperlordosis, Flexion c... OMIM:620450
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Knee flexion contracture OMIM:619708
Mucolipidosis Type Ii
Diastasis recti, Hip contracture, Knee flexion contracture, Left ventricular hypertrophy, Kyphosis ORPHA:576
Frank-Ter Haar Syndrome
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Prominent coccyx, Camptodactyly, Kyphosis OMIM:249420
Cowden Syndrome 6
Scoliosis, Kyphosis OMIM:615109
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Abnormality of the cervical spine, Flexion contracture of finger, Scol... ORPHA:464311
Focal Dermal Hypoplasia
Finger aplasia, Toe syndactyly, 3-4 finger syndactyly, Short finger, Foot oligodactyly, Diastasis... OMIM:305600
16Q24.3 Microdeletion Syndrome
Scoliosis, Kyphosis ORPHA:261250
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis OMIM:610475
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis OMIM:619244
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm OMIM:600001
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Facial hypotonia, Lumbar hyperlordosis, Kyphosis, Kyphoscoliosis ORPHA:457359
Osteoporosis-Pseudoglioma Syndrome
Platyspondyly, Biconcave vertebral bodies, Kyphoscoliosis, Severe platyspondyly, Vertebral compre... OMIM:259770
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Vertebral compression fracture, Scoliosis, Kyphosis OMIM:610915
Dyrk1A-Related Intellectual Disability Syndrome
Abnormality of the cervical spine, Scoliosis, Kyphosis, Multiple joint contractures ORPHA:464306
Marshall-Smith Syndrome
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Kyphoscoliosis, Thoracic scoliosis,... OMIM:602535
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Congenital diaphragmatic hernia, Brachydactyly, Tarsal synostosis, Short foot OMIM:157800
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Scoliosis, Kyphosis ORPHA:476126
Spondyloarthropathy, Susceptibility To, 1
Sacroiliac arthritis, Kyphosis, Back pain OMIM:106300
Mosaic Trisomy 20
Spinal canal stenosis, Vertebral segmentation defect, Vertebral fusion, Scoliosis, Kyphosis, Fuse... ORPHA:1724
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Cowden Syndrome 1
Scoliosis, Kyphosis OMIM:158350
Beckwith-Wiedemann Syndrome
Diastasis recti, Congenital diaphragmatic hernia, Leiomyosarcoma, Macroglossia, Rhabdomyosarcoma,... ORPHA:116
Autosomal Recessive Robinow Syndrome
Camptodactyly of finger, Vertebral segmentation defect, Short neck, Scoliosis, Kyphosis, Sacral d... ORPHA:1507
Aspartylglucosaminuria
Platyspondyly, Spondylolysis, Spondylolisthesis, Beaking of vertebral bodies, Macroglossia, Scoli... OMIM:208400
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Kyphosis, Sacral dimple, Kyphoscoliosis ORPHA:536532
Rett Syndrome, Congenital Variant
Scoliosis, Kyphosis OMIM:613454
Cohen Syndrome
Scoliosis, Kyphosis ORPHA:193
Stickler Syndrome
Platyspondyly, Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Spinal canal steno... ORPHA:828
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphosis, Left ventricular noncompaction, Kyphoscoliosis, Scoliosis, Right ventricular hypertrophy OMIM:300967
Mend Syndrome
Limb hypertonia, Kyphosis, Sacral dimple ORPHA:401973
Spondyloenchondrodysplasia
Platyspondyly, Kyphosis ORPHA:1855
Cornelia De Lange Syndrome
Small hand, Toe syndactyly, Short 1st metacarpal, Micromelia, Oligodactyly, Congenital diaphragma... ORPHA:199
Microphthalmia With Linear Skin Defects Syndrome
Congenital diaphragmatic hernia ORPHA:2556
Proteus Syndrome
Abnormal form of the vertebral bodies, Decreased muscle mass, Myofibrillar myopathy, Scoliosis, K... ORPHA:744
Cardiac-Urogenital Syndrome
2-3 toe syndactyly, Congenital diaphragmatic hernia OMIM:618280
Intellectual Developmental Disorder, X-Linked 112
Scoliosis, Kyphosis, Kyphoscoliosis OMIM:301111
Mgat2-Cdg
Scoliosis, Kyphosis ORPHA:79329
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis OMIM:610489
Coffin-Siris Syndrome 1
Sandal gap, Prominent fingertip pads, Short distal phalanx of the 5th toe, Congenital diaphragmat... OMIM:135900
Simpson-Golabi-Behmel Syndrome, Type 1
Two carpal ossification centers present at birth, Short distal phalanx of finger, Broad thumb, Sh... OMIM:312870
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia ORPHA:2255
Cockayne Syndrome
Congenital contracture, Skeletal muscle atrophy, Contractures of the large joints, Limb hypertoni... ORPHA:191
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis OMIM:239000
Zttk Syndrome
Flexion contracture, Scoliosis, Kyphosis, Hemivertebrae OMIM:617140
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Scoliosis, Kyphosis OMIM:619005
Lenz-Majewski Hyperostotic Dwarfism
Facial palsy, Scoliosis, Kyphosis ORPHA:2658
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Scoliosis, Kyphosis OMIM:619718
Cowden Syndrome
Macroglossia, Scoliosis, Kyphosis ORPHA:201
Hajdu-Cheney Syndrome
Hypoplastic 5th lumbar vertebrae, Biconcave vertebral bodies, Short neck, Scoliosis, Kyphosis ORPHA:955
Marfan Syndrome
Kyphosis, Scoliosis, Spondylolisthesis, Skeletal muscle atrophy ORPHA:558
Cdags Syndrome
Kyphosis OMIM:603116
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Atelis Syndrome 2
Kyphosis, Sacral dimple OMIM:620185
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Kyphosis, Scoliosis, Hyperlordosis OMIM:617011
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Decreased muscle mass, Vertebral fusion, Scoliosis, Kyphos... OMIM:194190
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Abnormal curvature of the vertebral column, Torticollis, Scoliosis, Kyphosis OMIM:619475
Pmm2-Cdg
Hypertrophic cardiomyopathy, Multiple joint contractures, Angina pectoris, Intracranial hemorrhag... ORPHA:79318
Cockayne Syndrome A
Kyphosis, Hip contracture OMIM:216400
Cleidocranial Dysplasia 1
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
Shprintzen Omphalocele Syndrome
Lumbar hyperlordosis, Scoliosis, Kyphosis OMIM:182210
Wrinkly Skin Syndrome
Hypoplasia of the musculature, Scoliosis, Kyphosis, Scapular winging OMIM:278250
Lowe Oculocerebrorenal Syndrome
Platyspondyly, Joint contracture of the hand, Camptodactyly of finger, Scoliosis, Kyphosis OMIM:309000
Acromegaly
Macroglossia, Spinal canal stenosis, Kyphosis ORPHA:963
Somatomammotropinoma
Macroglossia, Spinal canal stenosis, Kyphosis ORPHA:314769
Lymphedema-Distichiasis Syndrome
Kyphosis OMIM:153400
Alstrom Syndrome
Scoliosis, Kyphosis OMIM:203800
Oculocerebrorenal Syndrome Of Lowe
Platyspondyly, Scoliosis, Kyphosis ORPHA:534
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Scoliosis, Kyphosis, Sacral dimple ORPHA:268261
Neurofibromatosis Type 1
Rhabdomyosarcoma, Scoliosis, Kyphosis ORPHA:636
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis ORPHA:85199
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Scoliosis, Kyphosis OMIM:619482
Occipital Horn Syndrome
Platyspondyly, Scoliosis, Kyphosis ORPHA:198
Primrose Syndrome
Distal amyotrophy, Skeletal muscle atrophy, Kyphosis, Hip contracture, Knee flexion contracture, ... OMIM:259050
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal vertebral morphology, Platyspondyly, Abnormality of the vertebral column, Camptodactyly ... ORPHA:2273
Mend Syndrome
Kyphosis, Sacral dimple OMIM:300960
Pallister-Killian Syndrome
Rhizomelia, Small hand, Postaxial foot polydactyly, Camptodactyly of 2nd-5th fingers, Short toe, ... OMIM:601803
Cockayne Syndrome B
Kyphosis OMIM:133540
Occipital Horn Syndrome
Platyspondyly, Kyphosis OMIM:304150
Ramon Syndrome
Scoliosis, Kyphosis OMIM:266270
17Q11 Microdeletion Syndrome
Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3, Rhabdomyosarcoma, Scolio... ORPHA:97685
Cerebrocostomandibular Syndrome
Kyphosis ORPHA:1393
Coffin-Lowry Syndrome
Lumbar kyphosis, Scoliosis, Kyphosis OMIM:303600
Turner Syndrome Due To Structural X Chromosome Anomalies
Short neck, Scoliosis, Kyphosis ORPHA:99413
Mosaic Monosomy X
Short neck, Scoliosis, Kyphosis ORPHA:99228
Monosomy X
Short neck, Scoliosis, Kyphosis ORPHA:99226
Turner Syndrome
Short neck, Scoliosis, Kyphosis ORPHA:881
Spondyloepimetaphyseal Dysplasia, X-Linked
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Anterior wedging of T11,... OMIM:300106
Branchiooculofacial Syndrome
Elbow flexion contracture, Short neck, Hyperlordosis, Facial palsy, Kyphosis OMIM:113620
Sotos Syndrome
Abnormal vertebral morphology, Ankle flexion contracture, Hip contracture, Bilateral camptodactyl... ORPHA:821
Yunis-Varon Syndrome
Kyphosis, Anterior concavity of thoracic vertebrae OMIM:216340
Alström Syndrome
Lumbar scoliosis, Kyphosis, Thoracic scoliosis ORPHA:64

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 Itga7

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 Itga7.

No publications found that use IMPC mice or data for Itga7.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Itga7tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Itga7tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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