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Gene: Gaa MGI:95609

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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:
glucosidase, alpha, acid
Synonyms:
E430018M07Rik

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 Gaa 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 Gaa by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Heart murmur, Shortened PR interval, Cardiomegaly, Hepatomegaly, Lef... ORPHA:308552
Glycogen Storage Disease Ii
Firm muscles, Sinus tachycardia, Limb muscle weakness, Splenomegaly, Shortened PR interval, Cardi... OMIM:232300

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Distal amyotrophy, Difficulty walking, Rhabdomyolysis, D... ORPHA:399096
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Leg muscle stiffness, Ankle weakness, Cardiomyopathy, Ab... ORPHA:98912
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac... OMIM:115210
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Dilated card... ORPHA:59135
Desminopathy
Spinal rigidity, Atrioventricular block, Congestive heart failure, Concentric hypertrophic cardio... ORPHA:98909
Distal Myopathy, Welander Type
Rimmed vacuoles, Distal upper limb muscle weakness, Difficulty walking, Distal upper limb amyotro... ORPHA:603
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Proximal muscle weakness in lower limbs, Finger flexor weakness, Distal upper limb muscle weaknes... ORPHA:63273
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom... OMIM:611556
Autosomal Recessive Spastic Paraplegia Type 28
Pain insensitivity, Lower limb muscle weakness, Abolished vibration sense, Impaired tactile sensa... ORPHA:101008
Klhl9-Related Early-Onset Distal Myopathy
Ankle flexion contracture, Difficulty walking, Impaired vibration sensation in the lower limbs, P... ORPHA:399081
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Atrial Fibrillation, Familial, 6
Reduced left ventricular ejection fraction, Left atrial enlargement, Left ventricular hypertrophy... OMIM:612201
Distal Myopathy With Anterior Tibial Onset
Finger flexor weakness, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Li... ORPHA:178400
Distal Myotilinopathy
Distal amyotrophy, Cardiomyopathy, Difficulty walking, Progressive distal muscle weakness, Multip... ORPHA:98911
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Difficulty walking, Neck muscle weakness, Type II diabetes ... OMIM:500002
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, Difficulty walking, Progressive distal muscle wea... ORPHA:399086
Distal Nebulin Myopathy
Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Slender build, Progre... ORPHA:399103
Nemaline Myopathy 6
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Gait disturbance, Facia... OMIM:609273
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue fasciculations, Tip-toe gait, Lower limb muscle weakness, Angulated muscle fibers, General... OMIM:620285
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Myopathy, Distal, With Anterior Tibial Onset
Loss of ambulation, Myopathy, Proximal muscle weakness OMIM:606768
Nemaline Myopathy 7
Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Neck muscle weakness, Lumbar... OMIM:610687
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy ORPHA:3283
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... OMIM:605820
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Left ventricular hypertr... OMIM:613876
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Right... OMIM:253700
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... OMIM:613697
Myopathy And Diabetes Mellitus
Impaired vibratory sensation, Sternocleidomastoid amyotrophy, Type I diabetes mellitus, Weakness ... ORPHA:2596
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o... ORPHA:171445
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, Progressive distal muscle weakness, EMG: myopathic abnormalities, Progress... OMIM:609452
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Leg muscle stiffness, Cardiomyopathy, Progressive spastic paraplegia, Difficulty walking, Impaire... ORPHA:320360
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop... OMIM:614676
Rigid Spine Syndrome
Skeletal muscle atrophy, Elbow flexion contracture, Neck muscle weakness, Hamstring contractures,... ORPHA:97244
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Duchenne Muscular Dystrophy
Skeletal muscle atrophy, Cardiomyopathy, Proximal muscle weakness, Progressive muscle weakness, C... ORPHA:98896
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Cardiomyocyte mitochondrial proliferation, Hypertrophic cardiomyopathy OMIM:616500
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Falls, Shoulder girdl... OMIM:608358
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Increased va... ORPHA:609
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial... OMIM:613874
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl... OMIM:618129
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... OMIM:613838
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Falls, Necrotizing myopathy, Ske... ORPHA:178464
Spastic Paraplegia 18B, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weakness, Inability to walk, Ankle... OMIM:611225
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Distal upper limb muscle weakness, Myopathy, Weakness of faci... OMIM:617030
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr... ORPHA:206546
Myopathy, Myofibrillar, 6
Restrictive cardiomyopathy, Lower limb muscle weakness, Myofibrillar myopathy, Mitral regurgitati... OMIM:612954
Congenital Myopathy 10B, Mild Variant
Increased variability in muscle fiber diameter, Difficulty walking, Neck muscle weakness, Limb mu... OMIM:620249
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Amish Nemaline Myopathy
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Proximal amyotro... ORPHA:98902
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Proximal muscle weakness, Mus... OMIM:609524
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Congenital Myopathy With Myasthenic-Like Onset
Minicore myopathy, Type 1 muscle fiber predominance, Fatigable weakness, Myopathy, Proximal muscl... ORPHA:424107
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
Myopathy, Distal, 4
Skeletal muscle atrophy, Cardiomyopathy, Thenar muscle weakness, Distal upper limb amyotrophy, Di... OMIM:614065
Bethlem Myopathy 1A
Ankle flexion contracture, Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contra... OMIM:158810
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... OMIM:605637
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness, Scapular wing... OMIM:616471
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block, Right ven... OMIM:615616
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Distal lower limb muscle weakness, Paresis of extensor muscles of the big toe, Paralysis, Difficu... OMIM:608634
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... OMIM:608099
Inclusion Body Myositis
Rimmed vacuoles, Distal muscle weakness, Inflammatory myopathy, Proximal muscle weakness OMIM:147421
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... OMIM:605355
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Palpitations, Abnormal cardiovascular system physiology, Pulmonary arter... ORPHA:422
Muscular Dystrophy, Becker Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Arrhythmia, Calf muscle pseudohypertrophy OMIM:300376
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Scapular muscle atrophy, Proximal muscle weakness, Peroneal muscle weakness, ... OMIM:611588
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Difficulty walking, Distal sensory impairment, Paralysis, Lethargy, Lowe... OMIM:613710
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... ORPHA:75566
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy... ORPHA:1878
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Limb muscle weakness, Ragged-red muscle fibers, EMG: myopathic abnormalities, Pro... OMIM:609286
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Type II diabetes mellitus, Myopathy, Ataxia ORPHA:2579
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... OMIM:609115
Bethlem Muscular Dystrophy
Difficulty walking, Neck muscle weakness, Gowers sign, Spinal rigidity, Rimmed vacuoles, Ankle fl... ORPHA:610
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Myoclonus, Ragged-red muscle fibers, Myopathy, Ataxia, Muscle weakness OMIM:545000
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End... OMIM:607482
Adult-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Dilated cardiomyopathy, Upper li... ORPHA:171442
Ethanolaminosis
Cardiomegaly OMIM:227150
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ... OMIM:612098
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Impaired vibratory sensation, Increased variability in muscle fiber diameter, So... OMIM:616924
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Scapuloperoneal Myopathy, X-Linked Dominant
Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus... OMIM:300695
Oculopharyngodistal Myopathy
Vocal cord paresis, Difficulty walking, Paraplegia, Loss of ambulation, Tibialis muscle weakness,... ORPHA:98897
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Spinal rigidity, Increased variability in muscle fiber diameter, Centrally nucleated skeletal mus... ORPHA:86812
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Sick Sinus Syndrome 2
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... OMIM:163800
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Difficulty walking, Neck muscle weakness, Limb mu... ORPHA:171439
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal upper limb muscle weakness, Difficulty walking, Distal lower limb amyotrophy, Claw hand de... OMIM:605285
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, I... OMIM:611880
Right Ventricular Hypoplasia, Isolated
Hypoplasia of right ventricle OMIM:277200
Spastic Paraplegia 43, Autosomal Recessive
Ankle flexion contracture, Spasticity, Distal amyotrophy, Spastic paraplegia, Distal sensory impa... OMIM:615043
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Congenital Myasthenic Syndromes With Glycosylation Defect
Gowers sign, Difficulty walking, Generalized weakness of limb muscles, Lumbar hyperlordosis, Freq... ORPHA:353327
Polyglucosan Body Myopathy 2
Muscle fiber inclusion bodies, Hand muscle weakness, Difficulty walking, Shoulder girdle muscle w... OMIM:616199
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... ORPHA:353
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li... OMIM:619566
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Dilated cardiomyopathy, Tip-toe gait, Tibialis anterior... OMIM:160500
Zebra Body Myopathy
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, Neck mus... ORPHA:97240
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Spasticity, Skeletal muscle atrophy,... OMIM:248800
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:613122
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li... OMIM:619216
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... OMIM:613873
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:301075
Myasthenic Syndrome, Congenital, 25, Presynaptic
Generalized amyotrophy, Myopathy, Poor head control, Flexion contracture, Scoliosis, Kyphosis, Sp... OMIM:618323
Multifocal Motor Neuropathy
Progressive muscle weakness, Progressive distal muscle weakness, Limb muscle weakness, Weakness o... ORPHA:641
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Increased va... OMIM:615424
Cardiomyopathy, Familial Hypertrophic, 15
Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic... OMIM:613255
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Ragged-red muscle fibers, Myopathy, Left ventricular hypertrophy, Arrhy... OMIM:540000
Dna2-Related Mitochondrial Dna Deletion Syndrome
Difficulty walking, Decreased mitochondrial number, Multiple joint contractures, Myopathy, Progre... ORPHA:352470
Carnitine Deficiency, Myopathic
Reduced muscle carnitine level, Myopathy OMIM:212160
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Congenital Myopathy 2A, Typical, Autosomal Dominant
Spinal rigidity, Nemaline bodies, Late-onset distal muscle weakness, Dilated cardiomyopathy, Arth... OMIM:161800
Combined Oxidative Phosphorylation Deficiency 49
Difficulty walking, Progressive muscle weakness, Ragged-red muscle fibers OMIM:619024
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy, Autophagic vacuoles, Myopathy OMIM:609500
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li... OMIM:616668
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Elevated circulating hepatic transaminase concentration, Muscular... ORPHA:369840
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... OMIM:302045
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Muscle f... OMIM:300718
Myofibrillar Myopathy 10
Ankle flexion contracture, Increased QRS voltage, Elbow flexion contracture, Knee flexion contrac... OMIM:619040
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, Cardiomyopathy, Tibialis anterior muscle atrophy, Steppage g... OMIM:600334
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Axial muscle weakness, Progressive external ophthalmoplegia, Respirator... ORPHA:663
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... ORPHA:860
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, Ophthalmoparesis, Abnormal he... ORPHA:169186
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG OMIM:309930
Myasthenic Syndrome, Congenital, 5
Ophthalmoparesis, Decreased muscle mass, Neck muscle weakness, Limb muscle weakness, Fatigable we... OMIM:603034
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy, Cardiomyopathy, Steppage gait, Impaired distal tactile sensation, Distal muscl... OMIM:610100
Congenital Myopathy 4B, Autosomal Recessive
Shoulder girdle muscle atrophy, Nemaline bodies, Neck muscle weakness, Distal lower limb amyotrop... OMIM:609284
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Frequent falls, Generalized muscle weakness, Dista... ORPHA:254361
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Proximal muscle weakness in lower limbs, Broad-based gait, Lower limb muscle weakness, Hip contra... OMIM:615290
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:79281
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle autophagosome accumu... OMIM:619518
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Skeleta... OMIM:300696
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Impaired pain sensation, Tremor, Gait disturbance, Ataxia, Distal muscle... ORPHA:101078
Multiminicore Myopathy
Minicore myopathy, External ophthalmoplegia, Proximal muscle weakness in upper limbs, Proximal mu... ORPHA:598
Cardiomyopathy, Familial Hypertrophic, 28
Apical hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Systolic anterior mot... OMIM:619402
Pulmonary Hypertension, Primary, 5
Right ventricular failure, Angina pectoris, Pulmonary arterial hypertension, Syncope, Right ventr... OMIM:265400
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Distal lower limb muscle weakness, Paresis of extensor muscles of the big toe, Distal muscle weak... OMIM:158590
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
Amyotrophic Lateral Sclerosis 8
Distal amyotrophy, Skeletal muscle atrophy, Fasciculations, Postural tremor, Proximal muscle weak... OMIM:608627
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc... OMIM:606685
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Difficulty walking, Foot dorsiflexor weakness, Distal sensory impairment, Proximal muscle weaknes... OMIM:617087
Cardiomyopathy, Dilated, 1Ff
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr... OMIM:613286
Autosomal Recessive Progressive External Ophthalmoplegia
External ophthalmoplegia, Shuffling gait, Cardiomyopathy, Hand muscle weakness, Muscle fiber atro... ORPHA:254886
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d... OMIM:610476
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... ORPHA:34516
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Frequent falls, Redu... ORPHA:34515
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T... OMIM:618654
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Difficulty walking, Neck muscle weakness, Limb muscle w... OMIM:609285
Classic Multiminicore Myopathy
Muscular dystrophy, Right ventricular failure, Congestive heart failure, Muscle fiber atrophy, In... ORPHA:324604
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Ophthalmoparesis, Skeletal muscle atrophy, Difficulty walking, Myopathy, Generalized muscle weakn... ORPHA:254875
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:611615
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Ophthalmoparesis, Falls, Shoulder girdle muscle weakness, Myopathy, Progressive external ophthalm... OMIM:615156
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav... ORPHA:45453
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hypoglycemia, Congestive heart failure, Left ventricular hypertrophy, Br... OMIM:619048
Congenital Myopathy 16
Lumbar hyperlordosis, Proximal muscle weakness, Axial muscle weakness, Scapular winging, Flexion ... OMIM:618524
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Cardiomyopathy, Supraventricular tachycardia, Myopathy, Proximal muscle weakness, Fatty replaceme... OMIM:255100
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Shoulder girdle muscle weakness, Hand muscle weakness, Difficulty walking, Distal lower limb amyo... ORPHA:363454
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:613252
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cardiomyopathy OMIM:609016
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Wolff-P... OMIM:613690
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h... OMIM:613172
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Resting tremor, Limb muscle weakness, Rhabdomyoly... OMIM:157640
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Muscular Dystrophy, Congenital, With Or Without Seizures
Type I diabetes mellitus, Proximal muscle weakness, Loss of ambulation, Progressive muscle weakne... OMIM:620166
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Distal amyotrophy, Difficulty walking, Tremor, Vocal cord paralysis, Distal m... OMIM:158580
Atrial Standstill 1
Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Premature atrial contra... OMIM:108770
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Ankle flexion contracture, Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglyca... ORPHA:280333
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Congestive heart failure, Myopathy, Axial muscle weakness, Arrhythmia, G... ORPHA:157973
Merrf
Ragged-red muscle fibers, Myopathy, Ataxia ORPHA:551
Nemaline Myopathy 2
Increased variability in muscle fiber diameter, Limb muscle weakness, Generalized muscle weakness... OMIM:256030
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:98853
Neuropathy, Ataxia, And Retinitis Pigmentosa
Proximal muscle weakness, Myopathy, Ataxia OMIM:551500
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Cardiomyopathy, Dilated, 2I
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... OMIM:620462
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Progressive muscle weakn... OMIM:151800
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal amyotrophy, Arthrogryposis multiplex congenita, Elbow flexion contracture, Nonprogressive ... OMIM:600175
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Difficulty walking, Chorea, Myopathy, Hyperkinetic movements, Tru... ORPHA:369847
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Short neck, Sp... ORPHA:98863
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology... ORPHA:3092
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Cardiomyopathy, Difficulty walking, Lumbar hyperlordosis, Limb-girdle muscle ... OMIM:609308
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Arthrogryposis multiplex congenita, Congenital contracture, Myopathy, Skeletal muscle atrophy OMIM:208100
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, External ophthalmoplegia, Increased variability in muscle fiber diameter, Increa... OMIM:618940
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Spondylolisthesis, Myopathy, Ragged-red muscle fibers, Ophthalmoplegia, Abnormal... ORPHA:270
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear... OMIM:605362
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy, Muscle weakness OMIM:616314
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Muscular dystrophy, Left anteri... OMIM:181350
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Asymmetric septal hypertrophy, Cardiomyocyte hypert... OMIM:620236
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Broad-based gait, Cardiomyopathy, Difficulty walk... ORPHA:119
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Biventricular hypertrophy, Proximal muscle weakness, Loss of ambulation, Proximal amyotrophy, Ele... OMIM:255160
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... OMIM:614321
Charcot-Marie-Tooth Disease Type 1A
Spontaneous pain sensation, Skeletal muscle atrophy, Paresthesia, Gait imbalance, Distal sensory ... ORPHA:101081
Myopathy, Distal, 3
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Clumsiness... OMIM:610099
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... OMIM:607641
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Distal upper limb amyotrophy, Distal lower limb amyotrophy, Tremor, Gait... ORPHA:101075
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Increased QRS voltage, Abnormal pulse pressure... ORPHA:3093
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Upper limb muscle weakness, Decreased muscle glycogen content, Decreased... ORPHA:263297
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... ORPHA:99095
Roussy-Lévy Syndrome
Impaired vibratory sensation, Distal amyotrophy, Skeletal muscle atrophy, Impaired pain sensation... ORPHA:3115
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Leber Hereditary Optic Neuropathy
Ataxia, Postural tremor, Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Myopathy, Myofibrillar, 2
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... OMIM:608810
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy, Myopathy OMIM:212130
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal sensory impairment, Paresis of extensor muscles of the big toe, Poor fine motor coordinati... ORPHA:99947
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Card... OMIM:608807
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:98855
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Restrictive cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
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
Mitochondrial Complex I Deficiency, Nuclear Type 21
Spasticity, Difficulty walking, Ragged-red muscle fibers, Myopathy, Babinski sign, Ataxia OMIM:618242
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Right ventricular dilatation, Wolff-Parkins... OMIM:619705
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... ORPHA:99103
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Dilated cardiomyopathy, Increased endomysial connective tissue, Myopathy, Mit... OMIM:602541
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Muscular dystrophy, Shoulder girdle muscle weakness, Proximal muscle weakness, Quadriceps muscle ... OMIM:611307
Cardiomyopathy, Familial Hypertrophic, 12
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent... OMIM:612124
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle ... OMIM:604286
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Tip-toe gait, Proximal muscle weakness, Gait disturbance, Proximal amyotrophy, Hyperlordosis, Low... OMIM:617404
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure OMIM:192600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, EMG:... OMIM:253601
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, Waddling gait, EMG: myopathic... OMIM:255200
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... ORPHA:444013
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Paresthesia, Supraventricular tachycardia, Limb muscle weakness, A... ORPHA:90064
Infantile Refsum Disease
Spasticity, Cardiomyopathy, Arrhythmia, Progressive muscle weakness, Ataxia, Hepatomegaly, Facial... ORPHA:772
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:268
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Joint contracture of the hand, Distal sensory impairment, Unsteady gait, Poor... ORPHA:99948
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Fa... OMIM:616313
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:611879
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, External ophthalmoplegia, Type 1 muscle fiber pre... OMIM:160565
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Myopathy ORPHA:366
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, External ophthalmoplegia, Proximal muscle weakness in... OMIM:160150
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Tremor, Gait disturbance, Paraparesis, Ataxia, Scoliosis, Kyphosis, Musc... ORPHA:99014
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... ORPHA:3282
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in lower limbs, Vocal cord paresis, Distal sensory impairment, Impaired ... ORPHA:101097
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Broad-based gait, Distal amyotrophy, Skeletal muscle atrophy, Difficulty walk... OMIM:614895
Congenital Myopathy 24
Nemaline bodies, Cardiomyopathy, Type 1 muscle fiber predominance, First degree atrioventricular ... OMIM:617336
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... OMIM:310440
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Distal amyotrophy, Somatic sensory dysfunction, Lower limb muscle weakness, Upper limb muscle wea... ORPHA:99939
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Left ventricular ... OMIM:615418
Glycogen Storage Disease Xv
Cardiomyocyte hypertrophy, Type 1 muscle fiber predominance, T-wave inversion, Paroxysmal ventric... OMIM:613507
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Generalized muscle weakness, Progressive external ophthalmoplegia, Faci... OMIM:609283
Danon Disease
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Dilated cardiomyopathy, Generali... OMIM:300257
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Cirrhotic Cardiomyopathy
Congestive heart failure, Fourth heart sound, Ventricular arrhythmia, Elevated pulmonary artery p... ORPHA:57777
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Joint contracture of the hand, Distal amyotrophy, Difficulty walking, Scapuloperoneal amyotrophy,... OMIM:611067
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Dilated cardiomyopathy, Interosseus muscle atrophy, Dysmetria, Distal lower limb muscle weakness,... OMIM:619903
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Dilatation of the ventricular cavity, Rig... OMIM:609040
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai... ORPHA:1478
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... OMIM:600884
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Skeletal muscle atrophy, Cardiomyopathy, Gait imbalance, Li... ORPHA:329336
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack, Palpitatio... ORPHA:99104
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Myopathy, Short neck, Spinal rigidity, Facial dip... ORPHA:171436
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Fasciculations, Difficulty walking, Facial diplegia, Foot ... ORPHA:329478
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Falls, P... OMIM:618848
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Ankle flexion contracture, Muscular dystrophy, Difficulty walking, Lumbar hyperlordosis, Limb-gir... OMIM:613818
Neutral Lipid Storage Myopathy
Difficulty walking, Neck muscle weakness, Hepatic steatosis, Myopathy, Hepatomegaly, Gowers sign,... ORPHA:98908
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Macroglossia, Muscular dystrophy, Dilated cardiomyopathy, Tip-toe gait, Shoulder girdle muscle we... OMIM:607155
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Skeletal muscle atrophy, Absent P wave, Elbow flexion contracture, Palpit... OMIM:310300
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Respirator... OMIM:300580
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Increased varia... OMIM:618138
Duane Anomaly-Myopathy-Scoliosis Syndrome
Scoliosis, Myopathy ORPHA:50817
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Congenital Muscular Dystrophy Without Intellectual Disability
Muscular dystrophy, Tip-toe gait, Difficulty walking, Reduced muscle fiber alpha dystroglycan, Fa... ORPHA:370980
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Nathalie Syndrome
Skeletal muscle atrophy, Abnormal EKG OMIM:255990
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Cardiomyopathy, Fusion of midcervical facet joints, Limb muscle weakness, Distal... OMIM:606842
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Coenzyme Q10 Deficiency, Primary, 1
Hepatic failure, Hypertrophic cardiomyopathy, Myoclonus, Ragged-red muscle fibers, Tremor, Loss o... OMIM:607426
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Difficulty walking, Generalized muscle weakness, Proximal muscle weakness, Proximal amyotrophy, S... OMIM:606612
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Limb-girdle muscular dystrophy, Dilated cardiomyopathy, Reduced muscle fiber alpha dystroglycan, ... ORPHA:206559
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Dilated cardiomyopathy, Resting tremor, Congestive heart failure, Chorea, ... OMIM:606703
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Positive Romberg sign, Mitr... OMIM:258450
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Left bundle branch block, Hepatomegaly, Ven... OMIM:115197
Autosomal Dominant Spastic Paraplegia Type 3
Hyperesthesia, Impaired vibratory sensation, Tip-toe gait, Distal lower limb amyotrophy, Rigidity... ORPHA:100984
Central Core Disease
Nemaline bodies, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Kyphosc... ORPHA:597
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Distal amyotrophy, Upper limb muscle weakness, Foot dorsiflexor weakness, Distal sensory impairme... OMIM:605588
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
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:614096
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Scapulohumeral muscular dystrophy, Myopathy OMIM:160570
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal amyotrop... OMIM:607706
Pierre Robin Syndrome
Cor pulmonale OMIM:261800
Dpm3-Cdg
Rimmed vacuoles, Muscular dystrophy, Dilated cardiomyopathy, Calf muscle hypertrophy, Pelvic gird... ORPHA:263494
Triosephosphate Isomerase Deficiency
Cholelithiasis, Spasticity, Skeletal muscle atrophy, Congestive heart failure, Cholecystitis, Spl... OMIM:615512
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis, Flexion contracture OMIM:168400
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... ORPHA:275766
Short Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Hepatic steatosis, Myopathy, Lethargy, Ketotic hypoglycemia, Hypertonia ORPHA:26792
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Macroglossia, Myopathy, Gait disturbance, Jaundice, Muscle weakness, Skeletal muscle hypertrophy ORPHA:2349
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatig... ORPHA:2593
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating asparta... OMIM:212140
Acetyl-Coa Carboxylase-Alpha Deficiency
Myopathy OMIM:613933
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Tip-toe gait, Progressive spastic paraplegia, Knee flexi... ORPHA:496689
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Mitochondrial Complex I Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Skeletal muscle atrophy OMIM:618228
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Hypertrophic cardiomyopat... OMIM:300280
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Lower limb muscle weakness, Hand tremor, Impair... OMIM:614409
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Lumb... OMIM:615980
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Spasticity, Myoclonus, Hemiparesis, Babinski sign, Lethargy, Paralysis, Atax... OMIM:606777
Glycogen Storage Disease Iii
Hepatic fibrosis, Ventricular hypertrophy, Elevated circulating hepatic transaminase concentratio... OMIM:232400
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... ORPHA:555874
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Dysmetria, Hemiplegia/hemiparesis, Tremor, ... ORPHA:96
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Generalized amyotrophy, Increased endomysial conn... ORPHA:75840
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Vocal cord paresis, Impaired pain sensation, Fascicul... OMIM:619574
Muscular Dystrophy, Duchenne Type
Muscular dystrophy, Dilated cardiomyopathy, Tip-toe gait, Cardiomyopathy, Congestive heart failur... OMIM:310200
Isolated Succinate-Coq Reductase Deficiency
External ophthalmoplegia, Spasticity, Spastic paraparesis, Generalized muscle weakness, Loss of a... ORPHA:3208
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Chorea, Ophthalmoplegia, Lethargy, Ataxia, Bradykinesia OMIM:618683
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Spasticity, Myopathy, Ophthalmoplegia, Gait distu... OMIM:125250
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Periodic hypokalemic paresis, Episodic flaccid weakness, Respiratory ... ORPHA:681
Nemaline Myopathy 8
Nemaline bodies, Ophthalmoparesis, Myofibrillar myopathy, Flexion contracture, Facial palsy, Musc... OMIM:615348
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Hypertension, Cardiomyopathy OMIM:102200
Bronchopulmonary Dysplasia
Right ventricular failure, Right ventricular hypertrophy ORPHA:70589
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Coenzyme Q10 Deficiency, Primary, 5
Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy, Bradycardia OMIM:614654
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Arterial rupture, Myopathy, Kyphoscoliosis, Poor head control, Muscle we... ORPHA:300179
Autosomal Dominant Optic Atrophy Plus Syndrome
Spastic paraplegia, Cardiomyopathy, Myopathy, Progressive external ophthalmoplegia, Limb-girdle m... ORPHA:1215
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:617760
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm... ORPHA:1055
Postsynaptic Congenital Myasthenic Syndromes
Ophthalmoparesis, Skeletal muscle atrophy, Upper limb muscle weakness, Ankle weakness, Hip flexor... ORPHA:98913
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Tricuspid regurgitation, Type 1 muscle fiber pred... OMIM:620161
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti... OMIM:614672
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Muscular dystrophy, Left ventricular systolic dysfunction, Left ventricular hypertrophy, Macroglo... OMIM:613156
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Impaired pain sensation, Foot dorsiflexor weakness, Distal sensory impairment, Loss of ambulation... OMIM:618124
Isolated Glycerol Kinase Deficiency
Scoliosis, Hyperlordosis, Myopathy ORPHA:408
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Ophthalmoparesis, Limb muscle weakness, Fatigable weakness, Myopathy, Bulbar palsy, Type 2 muscle... OMIM:605809
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... OMIM:618782
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal rigidity, Generalized amyotrophy, Dilated cardiomyopathy, Decreased mitochondrial number, ... ORPHA:352447
Barth Syndrome
Endocardial fibroelastosis, Dilated cardiomyopathy ORPHA:111
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Abnormality of the liver, Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Hep... ORPHA:254864
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Ataxia-Telangiectasia-Like Disorder 2
Cutaneous telangiectasia, Congenital diaphragmatic hernia, Conjunctival telangiectasia, Progressi... OMIM:615919
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Cardiom... OMIM:615352
Spinocerebellar Ataxia With Epilepsy
Ophthalmoparesis, Acute hepatic failure, Gait ataxia, Myoclonus, Dysmetria, Myopathy, Tremor, Dys... ORPHA:254881
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Increased variability in muscle fiber diameter, Broad-based gait, External ophthalmoplegia, Posit... OMIM:607459
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Broad-based gait, Muscle fiber spli... OMIM:181405
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Tongue fasciculations, Z-band stre... OMIM:618823
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Charcot-Marie-Tooth Disease Type 4D
Distal upper limb muscle weakness, Somatic sensory dysfunction, Inability to walk, Postural tremo... ORPHA:99950
Peroxisome Biogenesis Disorder 11B
Progressive muscle weakness, Muscle weakness OMIM:614885
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
External ophthalmoplegia, Cardiomyopathy, Myopathy, Weakness of facial musculature, Lethargy, Abn... OMIM:201470
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG OMIM:178650
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Paget Disease Of Bone 6
Left ventricular hypertrophy OMIM:616833
Arts Syndrome
Progressive muscle weakness, Tetraplegia, Ataxia OMIM:301835
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Mitochondrial swelling, Lower limb muscle weaknes... ORPHA:397744
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Hypoglycemia, D... ORPHA:42
Mitochondrial Complex I Deficiency, Nuclear Type 15
Spastic tetraplegia, Hypertrophic cardiomyopathy, Myopathy, Flexion contracture, Kyphosis OMIM:618237
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,... OMIM:619424
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Tongue fasciculations, Camptodactyly of finger, D... OMIM:614399
Triose Phosphate-Isomerase Deficiency
Hypertrophic cardiomyopathy, Skeletal muscle atrophy ORPHA:868
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Ventricular septal hyper... OMIM:115195
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... OMIM:181400
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Arrhythmia, Cardiomyopathy ORPHA:35
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Hypertension, Left ventricular hypertrophy OMIM:616733
Mitochondrial Complex I Deficiency, Nuclear Type 11
Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Wolff-Parkinson-White syndrome, ... OMIM:618234
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Hyperglycemia, Ischemic stroke, Cerebral ischemia, ST segmen... ORPHA:90065
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Increased endomysial connective tissue, Arthrogryposis multiplex congenita, Ax... ORPHA:178148
Congenital Fibrinogen Deficiency
Internal hemorrhage, Tachycardia, Left ventricular hypertrophy, Right ventricular hypertrophy ORPHA:335
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Spasticity, Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, ... OMIM:252011
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Poor motor coordination, Spasticity, Tetraparesis, Hyperinsulinemia, Gait ata... ORPHA:363400
Congenital Disorder Of Glycosylation, Type Iid
Elevated circulating aspartate aminotransferase concentration, Myopathy, Decreased muscle mass OMIM:607091
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Triangular tongue, Calf musc... OMIM:616827
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Generalized limb muscle atrophy, Ragged-red muscle fibers, Progressive muscle weakness, Hyperlord... OMIM:600462
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular noncompaction, Tricuspid regurgitation, Left ventricular... OMIM:619167
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Elevated circulating hepatic transaminase concentration, Ventricular bigeminy, Abnormality of the... OMIM:610131
Endocardial Fibroelastosis
Endocardial fibroelastosis, Restrictive cardiomyopathy, Hypoglycemia, Congestive heart failure ORPHA:2022
Spastic Paraplegia 53, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Upper limb hypertonia, Gait disturbance, Clonus... OMIM:614898
Neuropathy, Hereditary, With Liability To Pressure Palsies
Hand muscle weakness, Vocal cord paralysis, Hand paresthesia, Hypoesthesia, Muscle weakness OMIM:162500
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Hyperkalemic Periodic Paralysis
Ophthalmoparesis, Skeletal muscle atrophy, Cerebral palsy, Congestive heart failure, Periodic hyp... ORPHA:682
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Inability to walk, Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, Loss of abili... OMIM:609560
Myopathy Due To Myoadenylate Deaminase Deficiency
Myopathy, Skeletal muscle atrophy, Rhabdomyolysis, Muscle weakness OMIM:615511
Spinal Muscular Atrophy, X-Linked 2
Arthrogryposis multiplex congenita, Multiple joint contractures, Spinal muscular atrophy, Myopath... OMIM:301830
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... ORPHA:1686
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Broad-based gait, Painless fractures due to injury, Recurrent hypoglycemia, Cholestasis, Acute he... OMIM:256810
Adams-Oliver Syndrome 5
Splenomegaly, Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Ri... OMIM:616028
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Kyphosis, Myopathy, Generalized limb muscle atrophy ORPHA:2598
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Hypokalemic Periodic Paralysis, Type 1
Myopathy, Episodic flaccid weakness, Periodic paralysis, Muscle weakness OMIM:170400
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Generalized amyotrophy, Weakness... ORPHA:52430
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... ORPHA:154
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Atrial flutter, Sinoatrial block... ORPHA:300751
Myasthenic Syndrome, Congenital, 16
External ophthalmoplegia, Fatigable weakness, Gait disturbance, Hyperlordosis, Periodic paralysis OMIM:614198
Neutral Lipid Storage Disease With Ichthyosis
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Cardiomyopathy, ... ORPHA:98907
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Distal amyotrophy, Kyphoscoliosis, Ataxia OMIM:619099
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy OMIM:619651
Developmental And Epileptic Encephalopathy 109
Left ventricular hypertrophy OMIM:620145
Glutamate-Cysteine Ligase Deficiency
Jaundice, Hepatosplenomegaly, Myopathy, Ataxia ORPHA:33574
Congenital Fiber-Type Disproportion Myopathy
Hypoplasia of the musculature, Weakness of muscles of respiration, Hip contracture, Generalized m... ORPHA:2020
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m... ORPHA:1345
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Lethargy, Apraxia, Hypertonia, Ataxia, Cho... ORPHA:71277
Sandhoff Disease
Congestive heart failure, Splenomegaly, Ataxia, Hepatomegaly, Kyphosis, Muscle weakness ORPHA:796
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ophthalmoparesis, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, ... ORPHA:1349
Combined Oxidative Phosphorylation Deficiency 23
Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure OMIM:616198
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Distal amyotrophy, Gait ataxia, Action tremor, Distal sensory impairm... OMIM:180800
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Heart murmur, Shortened PR interval, Cardiomegaly, Hepatomegaly, Lef... ORPHA:308552
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hypoketotic hypoglycemia, Cardiomegaly, Ventricular tachycardia, Hepatome... OMIM:600649
Cardiomyopathy, Dilated, 2J
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept... OMIM:620635
Immunoneurologic Disorder, X-Linked
Progressive proximal muscle weakness, Small for gestational age OMIM:300076
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia, Hypertrophic cardiomyopathy, Inability to walk, Myoclonus, Rigidity, Loss of ambula... OMIM:618241
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Myopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiac arrest OMIM:617713
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Systolic heart murmur, Aortic... ORPHA:2299
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Mitral regurgitation, Ventricular septal defect, Left ventricular hy... OMIM:615355
Intermediate Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Difficulty walking, Facial diplegia, Type 1 muscle fibe... ORPHA:171433
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Tongue fasciculations, Skeletal muscle atrophy, Interphalangeal joint ... ORPHA:1145
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly OMIM:607685
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Ventricular septal defect, Myopathy, Respiratory ... OMIM:616816
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Tangier Disease
Distal amyotrophy, Facial diplegia, Splenomegaly, Left ventricular hypertrophy, Hepatomegaly, Myo... OMIM:205400
Mitochondrial Trifunctional Protein Deficiency
Tip-toe gait, Lower limb muscle weakness, Cardiomyopathy, Cholestasis, Tricuspid regurgitation, H... ORPHA:746
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
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Congestive heart failure, Palpi... ORPHA:206569
Synaptic Congenital Myasthenic Syndromes
Ophthalmoparesis, Skeletal muscle atrophy, Hand muscle weakness, Frequent falls, Neck muscle weak... ORPHA:98915
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Postur... OMIM:619790
Phosphoglycerate Kinase 1 Deficiency
Rhabdomyolysis, Muscle weakness, Myopathy, Ataxia OMIM:300653
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... OMIM:615474
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Familial Hyperaldosteronism Type Iii
Epistaxis, Left ventricular hypertrophy, Prolonged QT interval, Intracranial hemorrhage, Hyperten... ORPHA:251274
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Limb-girdle muscular dystrophy, Lower limb muscle weakness, Loss of ambulation, Calf muscle hyper... OMIM:616052
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness OMIM:159050
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Resting tremor, Congestive heart failure, Difficulty walking, Chorea, Myo... ORPHA:324588
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... OMIM:612949
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Glycosuria, Ventricular septal defect, Hepatomegaly, Arthrogryposis multiplex congenita, Right ve... OMIM:613404
Friedreich Ataxia
Spasticity, Poor fine motor coordination, Falls, Cardiomyopathy, Inability to walk, Chorea, Limb ... ORPHA:95
Chromosome 6Q24-Q25 Deletion Syndrome
Tricuspid regurgitation, Mitral valve prolapse, Dysplastic tricuspid valve, Persistent fetal circ... OMIM:612863
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Elbow flexion contracture, Loss of ambulation, Arrhythmia, Gait disturbance, ... OMIM:616516
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit... OMIM:619371
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Pituitary Gigantism
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Type II diabetes mellitus ORPHA:99725
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... OMIM:620135
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Dk1-Cdg
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Cardiomyocyte hy... ORPHA:91131
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Lumbar hyperlordosis, Muscle fiber... OMIM:619542
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Inability to walk, Lumbar hyperlordosis, Lower limb spasticity, Ataxia, Scolios... OMIM:616756
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Congenital Muscular Dystrophy, Fukuyama Type
Muscular dystrophy, Dilated cardiomyopathy, Camptodactyly of finger, Myopathy, Gait disturbance, ... ORPHA:272
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Cardiomyopathy, Elevated circulating aspartate am... OMIM:613752
Chanarin-Dorfman Syndrome
Hepatic steatosis, Myopathy, Ataxia, Hepatomegaly, Muscle weakness OMIM:275630
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Lumbar hyperlordosis, General... OMIM:255310
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, H... OMIM:261740
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Fasciculations, Difficul... OMIM:610717
Fibrosis Of Extraocular Muscles, Congenital, 3C
Congenital fibrosis of extraocular muscles, Restrictive partial external ophthalmoplegia, Kyphosis OMIM:609384
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscular dystrophy, Increased endomysial connective tissue, Kyphoscoliosis, Ophthalmoplegia, Resp... OMIM:607855
Caribbean Parkinsonism
Myoclonus, Action tremor, Rigidity, Progressive gait ataxia, Parkinsonism, Apraxia, Orthostatic h... ORPHA:97355
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Finger joint contracture, Chorea, Paresthesia, Intention tremor, Dysmetria, Abnorma... ORPHA:48431
Mucolipidosis Type Iii Alpha/Beta
Aortic regurgitation, Congestive heart failure, Diastasis recti, Mitral regurgitation, Flexion co... ORPHA:423461
Mcleod Syndrome
Dilated cardiomyopathy, Muscle weakness, Cardiomyopathy, Elevated circulating aspartate aminotran... OMIM:300842
Marinesco-Sjögren Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Spasticity, Skeletal m... ORPHA:559
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Facial palsy, Ragged-red muscle fibers OMIM:616209
Autosomal Dominant Progressive External Ophthalmoplegia
External ophthalmoplegia, Resting tremor, Limb muscle weakness, Myopathy, Ophthalmoplegia, Arrhyt... ORPHA:254892
Microcephaly-Capillary Malformation Syndrome
Right ventricular hypertrophy, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:614261
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi... OMIM:115000
Hemochromatosis, Type 4
Cardiomyopathy, Glucose intolerance, Arrhythmia, Hepatomegaly, Diabetes mellitus, Impaired glucos... OMIM:606069
Megabladder, Congenital
Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr... OMIM:618719
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Mitochondrial Complex I Deficiency, Nuclear Type 14
Hypertrophic cardiomyopathy, Biventricular hypertrophy, Myopathy OMIM:618236
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Hypertrophic cardiomyopathy, Progressive external ophthalmoplegia... OMIM:615917
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Type I diabetes mellitus, Abnormal oral glucose tolerance, Hypoglycemic seizures, Hypertrophic ca... ORPHA:276580
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Myopathy With Lactic Acidosis, Hereditary
Increased variability in muscle fiber diameter, Ophthalmoparesis, Skeletal muscle atrophy, Diffic... OMIM:255125
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Vocal cord paresis, Ankle weakness, Shoulder girdle muscle weakness, Difficulty ... ORPHA:600
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc... ORPHA:457050
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Skeletal muscle atroph... ORPHA:79240
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Hepat... OMIM:602390
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Joint contracture of the hand, Decreased muscle m... ORPHA:536516
Laubry-Pezzi Syndrome
Aortic regurgitation, Congestive heart failure, Elevated pulmonary artery pressure, Palpitations,... ORPHA:99094
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Rhabdomyolysis, Glycogen accumulation in mu... ORPHA:368
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Ragged-red ... OMIM:613561
Hereditary Neuropathy With Liability To Pressure Palsies
Paresthesia, Scoliosis, Vocal cord paralysis ORPHA:640
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal... OMIM:613954
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Skele... ORPHA:264580
Timothy Syndrome
Atrioventricular block, Hypoglycemia, Tetralogy of Fallot, Patent foramen ovale, Ventricular sept... OMIM:601005
Hypophosphatasia, Childhood
Myopathy, Waddling gait OMIM:241510
Hypertrophic Neuropathy Of Dejerine-Sottas
Tongue fasciculations, Broad-based gait, Distal amyotrophy, Foot dorsiflexor weakness, Distal sen... OMIM:145900
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Tongue fasciculations, Kyphosis, Facial myokymia, Ataxia OMIM:620007
Spinal Muscular Atrophy, Ryukyuan Type
Proximal amyotrophy, Spinal muscular atrophy, Kyphoscoliosis OMIM:271200
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus, Cardiomyopathy OMIM:520000
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Hypoglycemia, Rhabd... OMIM:212138
Cap Myopathy
Increased variability in muscle fiber diameter, Tip-toe gait, Lower limb muscle weakness, Sinus t... ORPHA:171881
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Muscle weakness, Myopathy, Waddling gait ORPHA:166002
Glycogen Storage Disease Due To Acid Maltase Deficiency
Lower limb muscle weakness, Difficulty walking, Generalized muscle weakness, Elevated circulating... ORPHA:365
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Hepatic failure, Elevated circulating hepatic transaminase concentration... ORPHA:228305
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Congestive heart failure, Elevated circulating aspartate aminotransferase... OMIM:610198
Brown-Vialetto-Van Laere Syndrome 1
External ophthalmoplegia, Tongue fasciculations, Skeletal muscle atrophy, Neck muscle weakness, G... OMIM:211530
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy OMIM:616647
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure ORPHA:91130
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Myopathy ORPHA:1369
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa... OMIM:123320
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... ORPHA:615
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri... OMIM:615745
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Weakness of facial musculature, Angulated muscle fibers, Shoulder girdle muscle... OMIM:619477
Lethal Congenital Contracture Syndrome 7
Skeletal muscle atrophy, Facial diplegia, Knee flexion contracture, Paralysis, Distal arthrogryposis OMIM:616286
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Diabetes mellitus, Atrial septal defect OMIM:615981
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Splenomegaly, Joint contracture, Hepatomegaly, Flexion contracture OMIM:608540
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary arterial hypertension, Right ventricular hypertrophy ORPHA:217563
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... OMIM:617228
Fabry Disease
Congestive heart failure, Transient ischemic attack, Angina pectoris, Ventricular septal hypertro... OMIM:301500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Muscular dystrophy, Cardiomyopathy, Abnormal left ventricular function, Calf muscle hypertrophy, ... OMIM:613155
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Congestive heart... OMIM:609015
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... OMIM:620068
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Meckel Syndrome, Type 7
Aortic valve stenosis, Hepatosplenomegaly, Situs inversus totalis, Portal hypertension, Atrial se... OMIM:267010
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Bradycardia, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616276
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Muscular dystrophy, Somatic sensory dysfunction, Kyphoscolio... ORPHA:459033
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Myopathy OMIM:618246
Lethal Congenital Contracture Syndrome 8
Distal amyotrophy, Facial diplegia, Distal sensory impairment, Distal arthrogryposis, Vocal cord ... OMIM:616287
Autosomal Dominant Optic Atrophy, Classic Form
Spastic paraplegia, Spasticity, Skeletal muscle atrophy, Myopathy, Weakness of facial musculature... ORPHA:98673
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Congestive heart failure, Limb ataxia, Gait ataxia, Limb muscle weakness, Increas... OMIM:619259
Sengers Syndrome
Hypertrophic cardiomyopathy, Myopathy, Generalized muscle weakness, Pulmonary arterial hypertensi... OMIM:212350
Cdkl5-Deficiency Disorder
Impaired pain sensation, Difficulty walking, Gait disturbance, Poor head control, Scoliosis, Kyph... ORPHA:505652
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor weakness, Distal sensory impairment, Ky... OMIM:118220
Sarcosinemia
Tetraparesis, Hypertrophic cardiomyopathy, Peroneal muscle weakness, Ataxia, Pulmonic stenosis ORPHA:3129
Hsd10 Disease, Neonatal Type
Hypertrophic cardiomyopathy ORPHA:391457
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy, Abnormality of extrapyramidal motor function, Progressive external ophth... ORPHA:98757
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Nemaline bodies, Cardiomyopathy, Myopathy, Cervical C2/C3 vertebral fusion, Short neck, Thoracolu... OMIM:616549
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Dilated cardiomyopathy, Hypoglycemia, Gait imbalance, Rhabdomyolysis, ... OMIM:618120
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Rhabdomyolysis, Myopathy, Ataxia, Muscle weakness ORPHA:713
Familial Cervical Artery Dissection
Transient ischemic attack, Paresthesia, Cerebral ischemia, Subarachnoid hemorrhage, Recurrent cer... ORPHA:36382
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Hypoketotic hypoglyce... ORPHA:276556
Brown-Vialetto-Van Laere Syndrome 2
Tongue fasciculations, Neck muscle weakness, Limb muscle weakness, Kyphoscoliosis, Bulbar palsy, ... OMIM:614707
Lymphoid Interstitial Pneumonia
Cor pulmonale, Aortic valve stenosis OMIM:247610
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Muscular dystrophy, Left ventricular hypertrophy OMIM:613153
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Type I diabetes mellitus, Hypoglycemic seizures, Hypertrophic cardiomyopathy, Hyperinsulinemia, P... ORPHA:276575
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hypertrophic cardiomyopathy OMIM:620270
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Lower limb hypertonia, Abnormal EKG, Lower limb muscle weakness, Generalized amyotrophy ORPHA:1177
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Congestive heart failure OMIM:615440
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Familial Cutaneous Collagenoma
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure ORPHA:53296
X-Linked Immunoneurologic Disorder
Hypertonia, Hemiplegia/hemiparesis, Myopathy ORPHA:2571
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Gait disturbance, Ataxia, Scoliosis, Kyphosis, Muscle weakness ORPHA:85317
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Cardiomyopathy OMIM:615119
Sialidosis Type 2
Skeletal muscle atrophy, Splenomegaly, Tremor, Ataxia, Hepatomegaly, Flexion contracture, Kyphosi... ORPHA:87876
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Skeletal muscle atrophy, Myoclonus, Splenomegaly, Hepatomegaly, Ataxia, Anterior b... OMIM:230650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Joint contracture of the hand, Muscular dystrophy, Elbow flexion contracture, Proximal muscle wea... OMIM:608840
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Upper limb hypertonia, Clonus, Kyphosis, Impaired proprioception ORPHA:319199
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy OMIM:618243
Masa Syndrome
Spastic paraplegia, Shuffling gait, Paraplegia, Lower limb spasticity, Hyperlordosis, Kyphosis OMIM:303350
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis, Paresthesia OMIM:612740
Familial Isolated Restrictive Cardiomyopathy
Abnormal left ventricular function, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral ... ORPHA:75249
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Progressive external ophthalmoplegia, Gait ataxia, Myopathy, Ataxia OMIM:613077
Charcot-Marie-Tooth Disease, Type 4B2
Distal amyotrophy, Difficulty walking, Foot dorsiflexor weakness, Distal sensory impairment, Kyph... OMIM:604563
Oculopharyngeal Muscular Dystrophy 1
Facial palsy, Limb muscle weakness, Ragged-red muscle fibers OMIM:164300
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Ophthalmoparesis, Spasticity, Skeletal muscle atrophy, Lower limb m... ORPHA:88644
Hemochromatosis, Type 1
Cardiomyopathy, Congestive heart failure, Glucose intolerance, Splenomegaly, Cardiomegaly, Telang... OMIM:235200
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regurgitation, Hip con... OMIM:615959
Myasthenic Syndrome, Congenital, 20, Presynaptic
Ophthalmoparesis, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Neck muscle weakne... OMIM:617143
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor weakness, Distal sensory impairment, Ky... OMIM:118200
Naxos Disease
Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ... ORPHA:34217
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Myopathy ORPHA:79087
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia, Pericardial effusion OMIM:614702
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,... ORPHA:66529
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Takotsubo cardiomyopathy ORPHA:363549
Myopathy, Myofibrillar, 7
Spinal rigidity, Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle f... OMIM:617114
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Congestive heart... ORPHA:99901
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Arthrogryposis multiplex c... OMIM:208085
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... ORPHA:40
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Vocal cord paresis, Distal amyotrophy, Lumbar hyperlordosis, Positive Romberg sign, Limb muscle w... OMIM:601152
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Cardiomyopathy ORPHA:67048
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ... ORPHA:57
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Ragged-red muscle fibers, Arrhythmia, Proximal amyotrophy, Facial palsy, ... OMIM:615084
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy OMIM:158800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Distal... OMIM:164310
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Tricuspid regurgitation, Hepatomegaly, Pulmonary insufficiency, Pulmo... OMIM:619433
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Difficulty walking, Inability to wal... OMIM:611890
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Arrhythmia, Kyphosis OMIM:618453
Presynaptic Congenital Myasthenic Syndromes
Difficulty walking, Muscle fiber atrophy, Neck muscle weakness, Intermittent episodes of respirat... ORPHA:98914
Congenital Myasthenic Syndrome
Difficulty walking, Muscle fiber atrophy, Neck muscle weakness, Intermittent episodes of respirat... ORPHA:590
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Reduced left v... OMIM:616501
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Interverte... OMIM:271630
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyopathy, Bradycardia OMIM:618815
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li... ORPHA:99956
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Spasticity, Impaired pain sensation, Inability to walk, Chorea, Gait ataxia, Abnormality of extra... ORPHA:500180
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Decreased muscle mass, Inability to walk, Knee flexion contracture, Intrinsic h... OMIM:615490
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Arrhythmia, Atrial septal defe... OMIM:249270
Refsum Disease, Classic
Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Cardiomegaly, Arrhythmia OMIM:266500
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... OMIM:609813
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... OMIM:618619
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Muscle fiber atrophy, Upper limb muscle weakness ORPHA:309169
Congenital Myopathy 22A, Classic
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, External... OMIM:620351
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Spasticity, Hypertrophic cardiomyopathy, Paresthesia, Myoclonus, Hemiplegia/hemiparesis, Abnormal... ORPHA:79279
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Hypoglycemia, Congestive heart failure, Ve... OMIM:620609
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Hypoglycemia, Cardiomyopathy, Dysmetria, Tremor, Limb hypertonia, Hypert... OMIM:617710
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cardiomyopathy, Congestive heart failure OMIM:613313
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Tricuspid regur... OMIM:613426
Charcot-Marie-Tooth Disease, Type 4D
Distal amyotrophy, Claw hand deformity, Distal sensory impairment, Kyphoscoliosis, Proximal muscl... OMIM:601455
Richieri Costa-Da Silva Syndrome
Falls, Vertebral wedging, Decreased anterioposterior diameter of lumbar vertebral bodies, Decreas... ORPHA:3101
Spinocerebellar Ataxia, Autosomal Recessive 8
Spasticity, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramidal motor function, Sc... OMIM:610743
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Abnormal atrioventricular conduc... ORPHA:732
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Transposition of ... ORPHA:1209
Heart Block, Congenital
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... OMIM:234700
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Congestive heart failure, Hypertrophic c... ORPHA:79083
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617072
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Abnormal heart valve morphology, Tricuspid regurgitation, Mitral regurgitat... ORPHA:230851
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Spastic paraplegia, Distal amyotrophy, Inability to walk, Ankle clonus, Babinski sign, Exaggerate... OMIM:609541
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... OMIM:601846
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Hypertension, Cardiomyopathy ORPHA:3222
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Muscular dystrophy, Gait disturbance, Kyphosis ORPHA:1875
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Increased muscle glycogen content, Somatic sensor... ORPHA:502423
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... OMIM:614049
Carnitine Palmitoyl Transferase 1A Deficiency
Skeletal muscle atrophy, Hypoglycemia, Hypertrophic cardiomyopathy, Arrhythmia, Hepatomegaly, Sud... ORPHA:156
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Bulbar palsy, Parkinsonism, Paralysis, Muscle weakness OMIM:105500
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy ORPHA:295
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Proximal muscle weakness, Distal muscle weakness, Distal amyotrophy, Kyphoscoliosis OMIM:607831
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Mucopolysaccharidosis, Type X
Aortic valve stenosis, Left ventricular hypertrophy, Thickened aortic valve cusp, Aortic regurgit... OMIM:619698
Kearns-Sayre Syndrome
Third degree atrioventricular block, Cardiomyopathy, Ragged-red muscle fibers, Progressive extern... OMIM:530000
Poliomyelitis
Hypovolemic shock, Hypoplasia of the musculature, Hypotension, Skeletal muscle atrophy, Upper lim... ORPHA:2912
Leber Optic Atrophy
Postural tremor, Arrhythmia, Myopathy, Ataxia OMIM:535000
Malignant Hyperthermia, Susceptibility To, 2
Anesthetic-induced rhabdomylosis, Alcohol-induced rhabdomyolysis, Exercise-induced rhabdomyolysis... OMIM:154275
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Cardiomyopathy, Coronary artery stenosis, Abnormality of the shoulder girdle mus... ORPHA:565612
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function OMIM:619492
Collagenoma, Familial Cutaneous
Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ... OMIM:115250
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy OMIM:618097
Hereditary Motor And Sensory Neuropathy, Type Iic
Shoulder girdle muscle atrophy, Proximal muscle weakness in upper limbs, Distal upper limb muscle... OMIM:606071
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm... OMIM:619051
Cystinosis
Type I diabetes mellitus, Portal hypertension, Myopathy, Gait disturbance, Abnormal pyramidal sig... ORPHA:213
Hereditary Butyrylcholinesterase Deficiency
Paralysis, Myocardial infarction, Congestive heart failure ORPHA:132
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Hepatomegaly, Splenomegaly, Cardiomyopathy ORPHA:93476
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol... OMIM:271530
Spastic Paraplegia 20, Autosomal Recessive
Spastic paraplegia, Distal amyotrophy, Spastic paraparesis, Lower limb muscle weakness, Difficult... OMIM:275900
Adducted Thumbs Syndrome
Arthrogryposis multiplex congenita, Myopathy OMIM:201550
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Inability to walk, Diastasis recti, Ventricular septal defect, Short nec... ORPHA:488632
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox... OMIM:614302
Friedreich Ataxia
Impaired vibratory sensation, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG... OMIM:229300
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy OMIM:617184
Dihydrolipoamide Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... OMIM:246900
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Left ventricular hypertrophy, Hypoglycemia, Congestive heart failure OMIM:619355
Snakebite Envenomation
Epistaxis, Hypotension, Cardiogenic shock, Pseudobulbar paralysis, Cerebral ischemia, Rhabdomyoly... ORPHA:449285
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Myofiber disarray, M... OMIM:604377
Kearns-Sayre Syndrome
Third degree atrioventricular block, Skeletal muscle atrophy, Ragged-red muscle fibers ORPHA:480
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Exercise-induced rhabdom... OMIM:201475
Charcot-Marie-Tooth Disease, Type 4K
Difficulty walking, Skeletal muscle atrophy, Kyphoscoliosis, Ataxia OMIM:616684
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Muscular dystrophy, Generalized amyotrophy, Type ... OMIM:254090
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect OMIM:616277
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Generalized amyotrophy, Secundum atrial septal de... OMIM:616866
Malignant Hyperthermia, Susceptibility To, 3
Anesthetic-induced rhabdomylosis, Alcohol-induced rhabdomyolysis, Exercise-induced rhabdomyolysis... OMIM:154276
Alg9-Cdg
Hypoplasia of the musculature, Abnormal heart morphology, Tricuspid regurgitation, Ventricular se... ORPHA:79328
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... ORPHA:1457
Combined Oxidative Phosphorylation Deficiency 24
Spasticity, Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Proximal muscle weakness... OMIM:616239
Axial Osteomalacia
Myopathy, Proximal muscle weakness OMIM:109130
Apparent Mineralocorticoid Excess
Left ventricular hypertrophy, Hypertension ORPHA:320
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Ophthalmoparesis, Muscle flaccidity, Oculomotor nerve palsy, Fatigable weakness, Myopathy, Ophtha... ORPHA:257
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Truncus Arteriosus
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho... ORPHA:3384
Neuraminidase Deficiency
Skeletal muscle atrophy, Cardiomyopathy, Myoclonus, Splenomegaly, Dysmetria, Cardiomegaly, Hepato... OMIM:256550
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Spl... ORPHA:2348
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Mitochondrial Complex I Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy OMIM:618229
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure... ORPHA:324410
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... ORPHA:169189
Melas
Type II diabetes mellitus, Myopathy, Hemiparesis, Ataxia, Concentric hypertrophic cardiomyopathy,... ORPHA:550
Rhabdomyolysis, Susceptibility To, 1
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:620235
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricular septal defect, M... OMIM:616564
Glycogen Storage Disease X
Rhabdomyolysis, Myopathy OMIM:261670
Lopes-Maciel-Rodan Syndrome
Spasticity, Tremor, Ankle clonus, Abnormal pyramidal sign, Hypertonia, Unsteady gait, Bradykinesi... OMIM:617435
Al Amyloidosis
Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Abnormal P wave, Postural hyp... ORPHA:85443
Proximal Spinal Muscular Atrophy
Tongue fasciculations, Difficulty walking, Proximal muscle weakness, Atrial septal defect, Quadri... ORPHA:70
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Ragged-red muscle fibers, Scapular winging, Weakness of facial musculature OMIM:617069
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Ophthalmoparesis, Falls, Bradykinesia, Extrapyramidal muscular rigidity, Speech ap... ORPHA:99750
Muscle-Eye-Brain Disease
Gait disturbance, Hypertonia, Hemiplegia/hemiparesis, Myopathy ORPHA:588
Barth Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgit... OMIM:302060
Sialidosis Type 1
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Myoclonus, Splenomegaly, Tremor, ... ORPHA:812
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se... OMIM:618652
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension OMIM:619064
Cyclic Vomiting Syndrome
Lethargy, Cardiomyopathy, Muscle weakness, Ataxia OMIM:500007
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... OMIM:608340
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... OMIM:254130
Nephronophthisis 16
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Enlarged kidney, Pulm... OMIM:615382
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:618321
Infantile Sialic Acid Storage Disease
Cardiomegaly, Hepatomegaly, Splenomegaly, Congestive heart failure OMIM:269920
Intellectual Disability-Developmental Delay-Contractures Syndrome
Congenital foot contractures, Distal amyotrophy, Scoliosis, Kyphosis ORPHA:3454
Congenital Myopathy 21 With Early Respiratory Failure
Diaphragmatic weakness, EMG: myopathic abnormalities, Hypertrophic cardiomyopathy, Spinal rigidity OMIM:620326
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy... ORPHA:367
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Pyruvate Dehydrogenase E3 Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Spasticity, Hypoglycemi... ORPHA:2394
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Congestive heart failure OMIM:616794
Absence Of The Pulmonary Artery
Atrial flutter, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal heart morph... ORPHA:980
Abetalipoproteinemia
Broad-based gait, Positive Romberg sign, Hepatic steatosis, Myopathy, Ophthalmoplegia, Cirrhosis,... ORPHA:14
Hsd10 Mitochondrial Disease
Spasticity, Spastic tetraplegia, Hypoglycemia, Hypertrophic cardiomyopathy, Abnormal mitochondria... OMIM:300438
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Combined Oxidative Phosphorylation Deficiency 38
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:618378
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy OMIM:619688
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Inability to walk, Multiple joint contractures, Tremor, Babinski sign, Hyperlordos... OMIM:128100
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Atypical Rett Syndrome
Spasticity, Involuntary movements, Pill-rolling tremor, Impaired pain sensation, Limb myoclonus, ... ORPHA:3095
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Fatigable weakness of swallowing muscles, Glycosuria, Decreased liver function, Hypertrophic card... ORPHA:436271
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Noonan Syndrome 11
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:618499
Mucolipidosis Type Ii
Abnormal atrioventricular valve physiology, Aortic regurgitation, Cardiomyopathy, Hepatosplenomeg... ORPHA:576
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Hypoglycemia, H... ORPHA:26791
Combined Oxidative Phosphorylation Deficiency 11
Tongue fasciculations, Decreased liver function, Cardiomyopathy, Myoclonus, Hepatic steatosis, My... OMIM:614922
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Spasticity, Decreased liver function, Congestive heart failure, Inability to walk, Abnormal heart... ORPHA:70472
Primary Angiitis Of The Central Nervous System
Cerebral vasculitis, Tetraparesis, Transient ischemic attack, Hemiparesis, Paralysis, Parkinsonis... ORPHA:140989
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Cardiomyopathy OMIM:619003
Fabry Disease
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc... ORPHA:324
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Kyphoscoliosis, Flexion contr... OMIM:616470
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Unsteady gait, Scoliosis, Kyphosis, Ataxia OMIM:300861
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Mitochondrial Myopathy, Infantile, Transient
Increased muscle lipid content, Ragged-red muscle fibers, Hypertrophied muscle fibers, Hepatomega... OMIM:500009
Muscular Dystrophy, Congenital, Lmna-Related
Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Paroxysmal atrial fibrillation... OMIM:613205
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Facial palsy, Flexion contr... OMIM:603511
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Increased variability in muscle fiber diameter, Ophthalmoparesis, D... ORPHA:70595
Hec Syndrome
Arrhythmia, Endocardial fibroelastosis, Cardiomyopathy ORPHA:2119
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy OMIM:612989
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Rhabdomyolysis, Tachycardia, Periodic paralysis, Muscle weakness OMIM:188580
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiac arrest, Bradycardia OMIM:618235
Autosomal Recessive Spastic Paraplegia Type 9B
Spasticity, Skeletal muscle atrophy, Tip-toe gait, Postural tremor, Impaired vibration sensation ... ORPHA:447760
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Cardiomyopathy, Splenomegaly, Ataxia, Neonatal hypoglycemia, Muscle weakness OMIM:619046
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Skeletal ... OMIM:620542
Congenital Myopathy 14
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... OMIM:618414
Immunodeficiency 9
Difficulty walking, Myopathy, Proximal muscle weakness, Respiratory insufficiency due to muscle w... OMIM:612782
Amyotrophic Lateral Sclerosis
Progressive distal muscular atrophy, Spasticity, Skeletal muscle atrophy, Upper limb muscle weakn... ORPHA:803
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Spasticity, Gait disturbance, Scoliosis, Kyphosis ORPHA:2429
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Athetosis OMIM:300857
Harel-Yoon Syndrome
Spasticity, Distal amyotrophy, Inability to walk, Hypertrophic cardiomyopathy, Ataxia, Scoliosis OMIM:617183
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly OMIM:252920
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Gait disturbance, Skeletal muscle atrophy, Myopathy ORPHA:85329
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Mitral atresia, Left axis devia... OMIM:620294
Postencephalitic Parkinsonism
Involuntary movements, Resting tremor, Akinesia, Paresthesia, Cogwheel rigidity, Generalized musc... ORPHA:97349
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating hepatic transaminase concentration, Poor coordination, Hypoglycemia, Torsade... OMIM:616878
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Hypoglycemia OMIM:618838
Hjv Or Hamp-Related Hemochromatosis
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Congenital hepat... ORPHA:79230
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Left ventricular hypertrophy, Atrial septal defect, Left-to-right shunt OMIM:620510
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Short neck, Camptodactyly, Arthrogryposis multiplex congenita, Kyphosis OMIM:618393
Pseudoachondroplasia
Platyspondyly, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, Lumbar ... ORPHA:750
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Flynn-Aird Syndrome
Skeletal muscle atrophy, Impaired pain sensation, Type II diabetes mellitus, Ataxia, Scoliosis, K... ORPHA:2047
Glycogen Storage Disease Ii
Firm muscles, Sinus tachycardia, Limb muscle weakness, Splenomegaly, Shortened PR interval, Cardi... OMIM:232300
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Cardiomyopathy, Hepatosplenomegaly, Portal hypertension, Bradycardia, Fl... OMIM:232500
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
X-Linked Adrenoleukodystrophy
Leg muscle stiffness, Somatic sensory dysfunction, Progressive spastic paraparesis, Incoordinatio... ORPHA:43
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Telangiectasia of the skin, Finger ... OMIM:212112
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Mulibrey Nanism
Congestive heart failure, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Progressive spastic paraplegia, Difficulty walking, Lower limb spasticity, Ataxia, Un... ORPHA:464282
Aicardi-Goutieres Syndrome 9
Lower limb hypertonia, Hepatosplenomegaly, Portal hypertension, Hepatomegaly, Left ventricular hy... OMIM:619487
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatty... OMIM:620246
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Hypoglycemic seizures, Hypoketotic hypoglycemia, Dilated cardiomyopathy OMIM:231530
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab... ORPHA:37553
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Hypertrophic cardiomyopathy, Congestive heart failure, Abnormal pulmonar... ORPHA:1194
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ce... ORPHA:3287
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy, Distal muscle weakness, Muscle weakness, Ataxia OMIM:614879
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypotension, Cardiomyop... ORPHA:159
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Spasticity, Skeletal muscle atrophy, Cardiomyopathy, Gait ataxia, Loss of ambulation, Hyperkineti... OMIM:620089
Heart Defects-Limb Shortening Syndrome
Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Abnormal mitral valve... ORPHA:1354
Infantile Liver Failure Syndrome 2
Hypoglycemia, Cardiomyopathy OMIM:616483
Leigh Syndrome
Spasticity, Myopathy, Ventricular septal defect, Ophthalmoplegia, Ataxia, Athetosis, Choreoatheto... ORPHA:506
Episodic Ataxia Type 1
Tip-toe gait, Kyphoscoliosis, Clumsiness, Calf muscle hypertrophy, Hypertonia, Poor coordination,... ORPHA:37612
Machado-Joseph Disease Type 3
Spasticity, Skeletal muscle atrophy, Distal lower limb amyotrophy, Abnormality of extrapyramidal ... ORPHA:276244
Machado-Joseph Disease Type 1
Spasticity, Skeletal muscle atrophy, Distal lower limb amyotrophy, Abnormality of extrapyramidal ... ORPHA:276238
Machado-Joseph Disease Type 2
Spasticity, Skeletal muscle atrophy, Distal lower limb amyotrophy, Abnormality of extrapyramidal ... ORPHA:276241
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Ophthalmoplegia, Tremor, EMG: myopathic abnormalities, Muscle weakness ORPHA:457365
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Impaired vibration sensation in the lower limbs, Gait ataxia, Positive Romber... ORPHA:88628
Aortic Aneurysm, Familial Thoracic 10
Bicuspid aortic valve, Left ventricular hypertrophy, Mitral regurgitation OMIM:617168
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Variegate Porphyria
Tachycardia, Paralysis OMIM:176200
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Lower limb muscle wea... ORPHA:363623
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular ... OMIM:607598
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... OMIM:607554
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, C... OMIM:613530
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Cholelithiasis, Cholecystitis, Splenomegaly, Myop... OMIM:611881
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Ophthalmoparesis, Second degree atrioventricular block, Periodic hypo... ORPHA:79102
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Abnormal heart morphology, Splenomegaly, Abnormal... ORPHA:398124
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Spasticity, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myoclonus, Abnormality o... OMIM:614299
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis OMIM:617070
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Decreased muscle mass, Congestive heart failure, Hyperglycemia, Portal hypertensi... ORPHA:465508
Horner Syndrome, Congenital
Paralysis OMIM:143000
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypoplastic left heart, Parachute mitral valve, Right-to-left shunt, Tetralogy of Fallot, Atriove... OMIM:265380
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Waddling gait OMIM:618392
Charcot-Marie-Tooth Disease Type 4C
Tongue fasciculations, Vocal cord paresis, Distal amyotrophy, Facial paralysis, Impaired pain sen... ORPHA:99949
Carcinoid Syndrome
Elevated circulating hepatic transaminase concentration, Right ventricular failure, Tricuspid reg... ORPHA:100093
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Cardiogenic Shock
Impaired myocardial contractility, Hypotension, Right ventricular failure, Abnormal left ventricu... ORPHA:97292
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Hypertension, Myocardial infarction OMIM:208000
Cutis Laxa, Autosomal Recessive, Type Ib
Tricuspid regurgitation, Congenital diaphragmatic hernia, Hypoplasia of the diaphragm, Pulmonary ... OMIM:614437
Mogs-Cdg
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly ORPHA:79330
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Cardiomyopathy, Hyperinsulinemia, Abnorm... ORPHA:79086
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Increased variability in muscle fiber diameter, Ankle flexion contracture, Elbow flexion contract... OMIM:619461
Dextrocardia
Abnormal EKG, Abnormal heart morphology, Situs inversus totalis, T-wave inversion, Dextrocardia ORPHA:1666
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,... OMIM:616867
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance OMIM:614807
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617066
Alg1-Cdg
Abnormal heart morphology, Cardiomyopathy ORPHA:79327
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Hypertrophic cardiomyopathy, Facial diplegia, Dysmetria, Babinski ... OMIM:619121
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Restrictive cardiomyopathy, Mitral regurgitation, Patent foramen ovale, Camptodactyly, Flexion co... ORPHA:88630
Congenital Muscular Dystrophy With Cerebellar Involvement
Muscular dystrophy, Cardiomyopathy, Reduced muscle fiber alpha dystroglycan, Lumbar hyperlordosis... ORPHA:370959
Wieacker-Wolff Syndrome, Female-Restricted
Spasticity, Inability to walk, Hip contracture, Weakness of facial musculature, Short neck, Oculo... OMIM:301041
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Hemiplegia, Gait disturbance, Scoliosis, Kyphosis ORPHA:2181
Rett Syndrome
Spasticity, Prolonged QTc interval, Skeletal muscle atrophy, Abnormal T-wave, Gait ataxia, Gait a... OMIM:312750
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Abnormal heart morphology, Hyperglycemia, Camptodactyly of toe, At... OMIM:175700
Polyarteritis Nodosa
Hypertension, Raynaud phenomenon, Cardiomyopathy, Pericarditis ORPHA:767
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Carnitine Palmitoyltransferase Ii Deficiency
Hepatic failure, Cardiomyopathy, Hypoketotic hypoglycemia, Myopathy, Rhabdomyolysis, Hepatic calc... ORPHA:157
Wolfram Syndrome
Gastrointestinal hemorrhage, Cardiomyopathy, Abnormal mesentery morphology, Myopathy, Ophthalmopl... ORPHA:3463
Myasthenic Syndrome, Congenital, 12
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy OMIM:610542
Prune1-Related Neurological Syndrome
Tongue fasciculations, Spastic paraparesis, Hypertrophic cardiomyopathy, Inability to walk, Clonu... ORPHA:544469
Autism Spectrum Disorder Due To Auts2 Deficiency
Joint contracture of the hand, Spasticity, Congenital contracture, Arthrogryposis multiplex conge... ORPHA:352490
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:615279
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:613204
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Malonyl-Coa Decarboxylase Deficiency
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Hypoglycemia OMIM:248360
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Hypoketotic hypoglycemia, Exercise-induced rhabdo... ORPHA:26793
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy ORPHA:3173
American Trypanosomiasis
Cardiomyopathy, Congestive heart failure, Splenomegaly, Hepatomegaly, Arrhythmia, Myocarditis ORPHA:3386
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Hypoglycemia ORPHA:369
Musculocontractural Ehlers-Danlos Syndrome
Atlantoaxial dislocation, Cervical kyphosis, Arthrogryposis multiplex congenita, Decreased muscle... ORPHA:2953
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Carey-Fineman-Ziter Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Oculomotor nerve palsy, Pectoralis hypopl... OMIM:254940
Hemochromatosis, Type 3
Cardiomyopathy OMIM:604250
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly, Arrhythmia, Hypoketotic hypoglycemia OMIM:255120
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Hip contracture, Knee flexion contracture, Thoracolumbar scoliosis, Kyphosis OMIM:313420
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis, Skeletal muscle atrophy, Limb muscle weakness OMIM:612300
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypoglycemia, Congestive heart failure OMIM:611126
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Hypoglycemia, Rhabdomyolysis, Ventricular s... OMIM:614921
Amyloidosis, Hereditary Systemic 1
Spasticity, Spastic paraparesis, Cardiomyopathy, Paraplegia, Limb ataxia, Positive Romberg sign, ... OMIM:105210
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Atlantoaxial instability, Skeletal muscle atrophy, Tricuspid regurgitation, Type 1 muscle fiber p... OMIM:614557
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Elbow flexion contracture, Congenital diaphragmatic hernia, Mitral valve prolapse, Patent foramen... OMIM:245600
Oculogastrointestinal Muscular Dystrophy
External ophthalmoplegia, Abnormal mitral valve morphology, Skeletal muscle atrophy, Myopathy ORPHA:1876
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Myopathy, Impaired pr... ORPHA:71
Overlap Myositis
Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper limbs, Abnormal heart morp... ORPHA:206572
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Muscular dystrophy, Generalized limb muscle atrophy, Hypoglycosylation of alpha-dystroglycan, Joi... OMIM:615351
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido... ORPHA:98905
Congenital Myopathy 9A
Tongue fasciculations, Akinesia, EMG: myopathic abnormalities OMIM:618822
Wars2-Related Combined Oxidative Phosphorylation Defect
Cardiomyopathy, Difficulty walking, Dysmetria, Tremor, Limb hypertonia, Ataxia, Poor head control... ORPHA:572798
Idiopathic Juvenile Osteoporosis
Vertebral compression fracture, Gait disturbance, Kyphosis ORPHA:85193
Hemifacial Atrophy, Progressive
Kyphosis, Ataxia OMIM:141300
Isolated Atp Synthase Deficiency
Spastic paraplegia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ophthalmoplegia, Letharg... ORPHA:254913
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Hypoglycemia OMIM:619386
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Spasticity, Decreased muscle mass, Akinesia, Myopathy, Rigidity, Tremor, Babinski ... OMIM:234200
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Hypoglycemia, Congestive ... ORPHA:137675
Cutis Laxa, Autosomal Recessive, Type Ic
Morgagni diaphragmatic hernia, Right ventricular hypertrophy, Posterolateral diaphragmatic hernia... OMIM:613177
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertrophic cardiomyopathy, Skeletal muscle atrophy OMIM:616896
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Cardiomyopathy, Camptodactyly of toe, Cardiomegaly, Impaired myocardial contra... ORPHA:158687
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Tetraparesis, Lethargy, Paraparesis, Pancreatitis, Ataxia, Hepatomegaly, Choreoat... ORPHA:27
Hsd10 Disease, Infantile Type
Poor coordination, Hypoglycemia, Hypertrophic cardiomyopathy, Loss of ambulation, Cardiomegaly, H... ORPHA:391428
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis OMIM:300434
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Cardiomyopathy, Absent muscle fiber merosin, Inability to walk, Reduced left ... ORPHA:258
Chromosome 13Q33-Q34 Deletion Syndrome
Camptodactyly, Left ventricular hypertrophy, Small thenar eminence, Pulmonic stenosis OMIM:619148
Autosomal Recessive Spastic Paraplegia Type 35
Spastic paraplegia, Dysdiadochokinesis, Difficulty walking, Neck muscle weakness, Foot dorsiflexo... ORPHA:171629
Primary Dystonia, Dyt4 Type
Blepharospasm, Upper limb postural tremor, Involuntary movements, Kyphoscoliosis, Gait disturbanc... ORPHA:98805
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis ORPHA:85288
Gm1 Gangliosidosis
Spasticity, Hepatosplenomegaly, Ventricular septal defect, Ataxia, Unsteady gait, Abnormal heart ... ORPHA:354
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Tricuspid regurgitation, Abnormal left ventricle morphology, Patent foramen ovale, Ventricular se... ORPHA:466791
Cerebral Cavernous Malformations 3
Paralysis, Cerebral hemorrhage OMIM:603285
Dilated Cardiomyopathy With Ataxia
Generalized amyotrophy, Elevated circulating hepatic transaminase concentration, Dilated cardiomy... ORPHA:66634
Toxin-Mediated Infectious Botulism
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... ORPHA:230800
Congenital Sialidosis Type 2
Abnormal EKG, Abnormal heart morphology, Hepatosplenomegaly, Telangiectasia, Hepatomegaly ORPHA:93400
Familial Aortic Dissection
Cardiomegaly, Aortic regurgitation, Abnormal left ventricular function ORPHA:229
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Dilated cardiomyopathy, Reduced systolic function OMIM:618805
Arnold-Chiari Malformation Type I
Progressive cerebellar ataxia, Fatigable weakness of swallowing muscles, Somatic sensory dysfunct... ORPHA:268882
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... OMIM:612347
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Involuntary movements, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Abn... ORPHA:480864
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... OMIM:613157
Vici Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Myopathy, Left ventricular hype... OMIM:242840
Arthrogryposis, Distal, Type 5
Firm muscles, Decreased muscle mass, Ophthalmoplegia, Distal arthrogryposis, Hypertonia, Congenit... OMIM:108145
Scleromyxedema
Transient ischemic attack, Abnormal skeletal muscle morphology, Myopathy, Proximal muscle weaknes... ORPHA:167635
Idiopathic Pulmonary Hemosiderosis
Diffuse alveolar hemorrhage, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Heart murmur ORPHA:99931
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Spasticity, Hypertrophic cardiomyopathy, Gait ataxia, Spastic gait, Scoliosis, Lower limb amyotrophy ORPHA:496790
Wieacker-Wolff Syndrome
Spasticity, Distal amyotrophy, Arthrogryposis multiplex congenita, Congenital foot contractures, ... OMIM:314580
Gitelman Syndrome
Hypotension, Paresthesia, Palpitations, Rhabdomyolysis, Generalized muscle weakness, Paralysis, V... OMIM:263800
Choreoacanthocytosis
Resting tremor, Muscle fiber atrophy, Myopathy, Loss of ambulation, Parkinsonism, Elevated circul... ORPHA:2388
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Hypoglycemia, Tricuspid regurgitation, Mitral regurgitation,... OMIM:620300
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Cardiomyopathy ORPHA:79312
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis, EMG: myopathic abnormalities, Cold paresis, Facial muscle hypertrophy ORPHA:684
Congenital Disorder Of Glycosylation, Type Iig
Camptodactyly, Left ventricular hypertrophy OMIM:611209
Amyloidosis, Finnish Type
Decreased heart rate variability, Cardiac amyloidosis, Cardiomyopathy, Orthostatic hypotension OMIM:105120
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated circulating hepatic transaminase concentration, Spastic paraparesis, Micronodular cirrho... ORPHA:309854
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Winchester Syndrome
Kyphosis OMIM:277950
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage OMIM:618886
Jaberi-Elahi Syndrome
Broad-based gait, Muscle weakness, Inability to walk, Gait ataxia, Dysmetria, Appendicular spasti... OMIM:617988
Bardet-Biedl Syndrome 1
Insulin resistance, Left ventricular hypertrophy, Hypertension, Diabetes mellitus OMIM:209900
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... OMIM:620642
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Usher Syndrome
Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology, Myopathy, Ataxia ORPHA:886
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Proximal muscle weakness in lower limbs, Patent foramen ovale, Pulmonary arterial hypertension, A... ORPHA:280633
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Limb muscle weakness, Joint contract... OMIM:617258
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Proximal muscle weakness, Limb-girdle mu... OMIM:112250
Double Outlet Left Ventricle
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Abnormal right ventricular fun... ORPHA:3427
Myotonic Dystrophy 2
Sternocleidomastoid amyotrophy, Insulin insensitivity, Palpitations, Type II diabetes mellitus, W... OMIM:602668
Isolated Complex I Deficiency
Poor head control, Hypoglycemia, Hypertrophic cardiomyopathy, Lethargy, Ataxia, Hepatomegaly, Dia... ORPHA:2609
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia, Hypoglycemia ORPHA:5
Alexander Disease
Hypotension, Spasticity, Chorea, Tremor, Hypertension, Short neck, Gait disturbance, Abnormal pyr... ORPHA:58
Joubert Syndrome 32
Hypertrophic cardiomyopathy OMIM:617757
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Impaired vibratory sensation, Muscle weakness, Decreased muscle mass, Congestive heart failure, E... ORPHA:1900
Stormorken Syndrome
Epistaxis, Myopathy, Proximal muscle weakness, Subarachnoid hemorrhage, Asplenia, Hypoplastic spleen OMIM:185070
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Ophthalmoparesis, Glycosuria, Decreased liver function, Hypertrophic cardiomyopathy, Weakness of ... OMIM:220110
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv... ORPHA:363705
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Dilated cardiomyopathy, Type II diabetes mellitus, Bicuspid aortic valve, R... ORPHA:401923
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end... OMIM:620152
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Cardiomyopathy OMIM:618839
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor, Generalized muscle weakness OMIM:609153
Pseudohypoaldosteronism Type 2
Periodic paralysis, Hypertension, Muscle weakness ORPHA:757
Congenital Generalized Lipodystrophy
Insulin resistance, Congestive heart failure, Hypertrophic cardiomyopathy, Hyperinsulinemia, Hepa... ORPHA:528
Refsum Disease
Skeletal muscle atrophy, Splenomegaly, Cardiomyopathy, Heart block ORPHA:773
Baralle-Macken Syndrome
Inability to walk, Spasticity, Kyphosis OMIM:619255
Hepatorenocardiac Degenerative Fibrosis
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Portal hypertension, Enlarged kidney OMIM:619902
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, T... OMIM:615381
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy OMIM:226100
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic ... ORPHA:280365
Friedreich Ataxia 2
Muscular subvalvular aortic stenosis, Congestive heart failure, Abnormal EKG, Concentric hypertro... OMIM:601992
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy OMIM:610773
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale OMIM:263000
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Cardiomyopathy ORPHA:324525
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Syncope, Dilated cardiomyopathy, Ventricular tachycardia OMIM:615821
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Endocardial fibroelastosis, Right atrial enlargement, Restrictive cardiomyopathy, Pericardial eff... OMIM:619313
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Abnormality of the vertebra... ORPHA:93314
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Cockayne Syndrome Type 2
Difficulty walking, Gait disturbance, Limb hypertonia, Lower limb spasticity, Ataxia, Hepatomegal... ORPHA:90322
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Roifman Syndrome
Splenomegaly, Hip contracture, Ventricular septal defect, Noncompaction cardiomyopathy, Hepatomegaly OMIM:616651
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Tangier Disease
Left ventricular hypertrophy, Hepatosplenomegaly, Facial diplegia, Coronary artery stenosis ORPHA:31150
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... OMIM:226670
Hypokalemic Periodic Paralysis, Type 2
Episodic flaccid weakness, Periodic paralysis OMIM:613345
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Foodborne Botulism
Cerebral palsy, Paralysis, Arrhythmia, Respiratory insufficiency due to muscle weakness, Diaphrag... ORPHA:228371
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Flexion contracture, Cardiomegaly, Ventricular septal defect OMIM:616897
Gm2-Gangliosidosis, Ab Variant
Chorea, Paralysis, Abnormal pyramidal sign, Hypertonia, Exaggerated startle response, Poor head c... OMIM:272750
Zimmermann-Laband Syndrome 3
Flexion contracture, Kyphosis OMIM:618658
Schwartz-Jampel Syndrome
Myopathy, Hip contracture, Short neck, Arrhythmia, Spinal rigidity, Blepharospasm, Wrist flexion ... ORPHA:800
Beck-Fahrner Syndrome
Cardiomegaly, Facial hypotonia, Ventricular septal defect OMIM:618798
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Muscle weakness, Hypoglycemia, Myopathy, Telangiectasia, Angina pectoris... ORPHA:109
Japanese Encephalitis
Distal upper limb muscle weakness, Skeletal muscle atrophy, Muscle flaccidity, Pill-rolling tremo... ORPHA:79139
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Subdural hemorrhage, Multiple joint ... OMIM:618291
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal canal stenosis OMIM:301900
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis ORPHA:276630
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Hepatomegaly, Patent foramen ovale OMIM:614582
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomyopathy, Hypoketotic hypoglycemia, Cardiomegaly, Arrhythmia, Abnormal myocardium morpholog... ORPHA:228308
Bruck Syndrome 1
Platyspondyly, Ankle flexion contracture, Vertebral wedging, Elbow flexion contracture, Hip contr... OMIM:259450
Crisponi Syndrome
Camptodactyly of finger, Hypertonia, Flexion contracture, Scoliosis, Sudden cardiac death, Kyphosis ORPHA:1545
3-Methylglutaconic Aciduria Type 7
Spasticity, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Myoclonus, H... ORPHA:445038
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy OMIM:600721
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Sandhoff Disease
Skeletal muscle atrophy, Hepatosplenomegaly, Cardiomegaly, Orthostatic hypotension, Hepatomegaly,... OMIM:268800
Intellectual Developmental Disorder, Autosomal Dominant 26
Cerebral palsy, Hypertonia, Scoliosis, Arthrogryposis multiplex congenita, Kyphosis OMIM:615834
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Spasticity, Myoclonus, Babinski sign, Facial hypotonia, Abnormality of muscle... ORPHA:364028
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoglycemic seizures, Fasting hyperinsulinemia, Hypertrophic cardiomyopa... ORPHA:71212
Propionic Acidemia
Hypoglycemia, Cardiomyopathy, Cerebellar hemorrhage, Limb hypertonia, Hepatomegaly OMIM:606054
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... ORPHA:596
Combined Oxidative Phosphorylation Deficiency 59
Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection fraction, Ketotic hypogly... OMIM:620646
Carey-Fineman-Ziter Syndrome
Hypertensive crisis, Skeletal muscle atrophy, Myopathy, Facial palsy, Scoliosis, Aplasia of the p... ORPHA:1358
Neuromuscular Oculoauditory Syndrome
Knee flexion contracture, Wrist flexion contracture, Calf muscle hypertrophy, Muscle fiber necros... OMIM:618733
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ragged-red muscle fibers OMIM:615159
Metatropic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Camptodactyly of finger, A... ORPHA:2635
Adrenomyodystrophy
Hepatic steatosis, Myopathy ORPHA:977
Developmental And Epileptic Encephalopathy 75
Cardiomyopathy OMIM:618437
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness, Right bundle branc... OMIM:616479
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Hematochezia, Elevated circulating hepatic transaminase concentration, Skeletal... OMIM:615895
Combined Oxidative Phosphorylation Deficiency 55
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy, Proximal muscle weakness, Pr... OMIM:619743
Mitochondrial Complex I Deficiency, Nuclear Type 29
Abnormal heart morphology, Palpitations, Hypertrophic cardiomyopathy OMIM:618250
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Ventricular septal defect, Cardiomegaly, Overridi... OMIM:617022
Mandibuloacral Dysplasia Progeroid Syndrome
Tricuspid regurgitation, Glucose intolerance, Mitral regurgitation, Patent foramen ovale, Left ve... OMIM:619127
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Gait ataxia, Tremor, Macroglossia, Kyphosis OMIM:300354
Cornelia De Lange Syndrome 2
Hypertrophic cardiomyopathy OMIM:300590
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:2701
Kyphoscoliotic Ehlers-Danlos Syndrome
Atlantoaxial instability, Congenital kyphoscoliosis, Skeletal muscle atrophy, Subdural hemorrhage... ORPHA:536545
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Pulmonary arterial hypertension, Hypertension OMIM:613320
Leopard Syndrome 2
Hypertrophic cardiomyopathy OMIM:611554
Metatropic Dysplasia
Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Arthrogryposi... OMIM:156530
Mitochondrial Dna-Associated Leigh Syndrome
Ophthalmoparesis, Hepatic failure, Dilated cardiomyopathy, Spasticity, Hypertrophic cardiomyopath... ORPHA:255210
Idiopathic Camptocormia
Fatigable weakness of skeletal muscles, Proximal spinal muscular atrophy, Abnormal muscle fiber d... ORPHA:1320
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hypoglycemia, Elbow flexion contracture, Increased muscle lipid content, ... OMIM:608836
Viss Syndrome
Coronary sinus enlargement, Right ventricular hypertrophy, Mitral valve prolapse, Ventricular sep... OMIM:619472
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Ehlers-Danlos Syndrome, Classic-Like, 1
Quadricuspid aortic valve, Proximal amyotrophy, Muscle fiber splitting, Mitral valve prolapse OMIM:606408
Familial Isolated Hypoparathyroidism
Arrhythmia, Myopathy ORPHA:2238
Scimitar Syndrome
Hypoplastic left heart, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal hea... ORPHA:185
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hepati... OMIM:212065
Fucosidosis
Spasticity, Spastic tetraplegia, Decreased muscle mass, Abnormality of the gallbladder, Cardiomeg... ORPHA:349
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Hypoglycemia OMIM:618835
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Patent foramen ovale, Pulmonary arterial hypertension, Atrial septal defect, Facial palsy, Right ... OMIM:620186
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Short neck, Arrhythmia, Subvalvular aortic stenosis, Membranous subval... ORPHA:3191
Mitochondrial Complex I Deficiency, Nuclear Type 1
Poor head control, Tongue fasciculations, Hepatic failure, Spasticity, Skeletal muscle atrophy, H... OMIM:252010
Alg3-Cdg
Macroglossia, Arthrogryposis multiplex congenita, Cardiomyopathy ORPHA:79321
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy OMIM:300219
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Hyperinsulinemia, Kyphosis, Hyperlordosis ORPHA:3085
Pelizaeus-Merzbacher Disease
Spasticity, Gait disturbance, Ataxia, Scoliosis, Kyphosis, Choreoathetosis ORPHA:702
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... ORPHA:401768
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Truncus arteriosus, H... OMIM:615415
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Mcdonough Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis, Kyphosis ORPHA:2471
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulation, Bradycardia... OMIM:618775
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Mitral atresia, Atrioventricular canal defect, Situs inv... OMIM:616749
Lethal Congenital Contracture Syndrome 9
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... OMIM:616503
Sjögren-Larsson Syndrome
Spasticity, Abnormal pyramidal sign, Scoliosis, Kyphosis, Spastic diplegia ORPHA:816
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hypoglycemia, Cardiomyopathy, Lethargy, Cerebellar hemorrhage, Pancreatitis, Hepatomegaly, Muscle... OMIM:251000
Immunodeficiency 10
Hepatomegaly, Myopathy, Splenomegaly, Hypoglycemia OMIM:612783
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Alpha-Mannosidosis
Type II diabetes mellitus, Splenomegaly, Short neck, Hepatomegaly, Macroglossia, Scoliosis, Kyphosis ORPHA:61
Beta-Thalassemia
Hypertrophic cardiomyopathy, Hepatomegaly, Splenomegaly ORPHA:848
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Inability to walk, Hypertrophic cardiomyopathy, Gait ataxia, Atrial septal defect, Hepatomegaly, ... OMIM:619383
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Camptodactyly of finger, Elbow flexion contracture, Hepatosplenomegaly,... OMIM:602782
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart val... OMIM:230500
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Hepatomegaly OMIM:619053
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Atrioventricular canal defect, Bundle branch block, Abnormal pulmona... ORPHA:500
S-Adenosylhomocysteine Hydrolase Deficiency
Muscular dystrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Abno... ORPHA:88618
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Neonatal Inflammatory Skin And Bowel Disease
Left ventricular hypertrophy ORPHA:294023
Combined Oxidative Phosphorylation Deficiency 57
Hypertrophic cardiomyopathy, Cardiac arrest, Left ventricular noncompaction cardiomyopathy OMIM:620167
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Abnormal form of the vertebral bodies, Myopathy, Hip contracture, Posterior scalloping of vertebr... ORPHA:3042
Porphyria, Acute Intermittent
Paresthesia, Respiratory paralysis, Paralysis, Tachycardia, Hypertension, Muscle weakness, Hepato... OMIM:176000
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Cardiomyopathy, Diastasis recti, Congenital diaphragmati... OMIM:312870
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ragged-red muscle fibers, Rhabdomyolysis, Weakness of facial musculature OMIM:618416
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Hypertrophic cardiomyopathy, Mitral atresia, Hyperglycemia, Mitral regurgitation, B... OMIM:220111
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycardia, Ventricular fibrill... OMIM:300952
Glioblastoma
Paralysis, Muscle weakness ORPHA:360
Asbestos Intoxication
Cor pulmonale, Right ventricular failure, Hepatojugular reflux, Myocardial fibrosis ORPHA:2302
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Arrhythmia, Atrial septal defect, Pulmonic stenosis OMIM:611553
Tick-Borne Encephalitis
Tongue fasciculations, Elevated circulating hepatic transaminase concentration, Skeletal muscle a... ORPHA:297
Wolfram Syndrome 1
Diabetes mellitus, Cardiomyopathy OMIM:222300
Schaaf-Yang Syndrome
Inability to walk, Camptodactyly, Flexion contracture, Scoliosis, Arthrogryposis multiplex congen... OMIM:615547
Hyperglycinemia, Lactic Acidosis, And Seizures
Hypertrophic cardiomyopathy, Joint contracture OMIM:614462
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Contracture of the proximal interphalangeal joint of the 2nd finger, Contracture of the proximal ... OMIM:130060
Roifman Syndrome
Noncompaction cardiomyopathy, Hepatosplenomegaly, Hip contracture ORPHA:353298
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers ORPHA:477774
Dopamine Beta-Hydroxylase Deficiency
Orthostatic syncope, Insulin resistance, Hypoglycemia, Abnormal EKG, Hyperinsulinemia, Syncope, O... ORPHA:230
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Myositis, Angina pe... ORPHA:93672
Weismann-Netter Syndrome
Scoliosis, Horizontal sacrum, Kyphosis OMIM:112350
Kleefstra Syndrome 2
Scoliosis, Kyphosis OMIM:617768
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... OMIM:619343
Cardiac Valvular Dysplasia 1
Valvular pulmonary stenosis, Tricuspid stenosis, Muscular ventricular septal defect, Tricuspid re... OMIM:212093
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Bruck Syndrome
Platyspondyly, Arthrogryposis multiplex congenita, Scoliosis, Kyphosis ORPHA:2771
Zimmermann-Laband Syndrome 2
Macroglossia, Short neck, Kyphosis OMIM:616455
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Increased variability in muscle fiber diameter, Elevated circulatin... ORPHA:17
Mucopolysaccharidosis, Type Iva
Platyspondyly, Hypoplasia of the odontoid process, Abnormal heart valve morphology, Lumbar kyphos... OMIM:253000
Aicardi-Goutieres Syndrome 1
Vasculitis, Spasticity, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, ... OMIM:225750
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Ventricular septal defect, Kyphosis, Lower limb hypertonia OMIM:169400
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Kyphosis ORPHA:1548
Gitelman Syndrome
Insulin resistance, Type I diabetes mellitus, Prominent U wave, Abnormal T-wave, Palpitations, Ty... ORPHA:358
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hyperesthesia, Spastic tetraplegia, Elbow flexion contracture, Hip contracture, Knee flexion cont... ORPHA:371364
O'Donnell-Luria-Rodan Syndrome
Prolonged neonatal jaundice, Kyphosis OMIM:618512
Penoscrotal Transposition
Cardiomyopathy ORPHA:2842
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Type 2 muscle fiber predominance, Elevated circulating hepatic transaminase concentration, Skelet... OMIM:615471
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Tricuspid regurgitation, Limb hypertonia OMIM:620306
Combined Oxidative Phosphorylation Deficiency 5
Hypertrophic cardiomyopathy OMIM:611719
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Hypertension, Splenomegaly OMIM:603903
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Cor pulmonale OMIM:215250
Spastic Paraplegia Type 7
Upper limb muscle weakness, Ragged-red muscle fibers, Lower limb muscle weakness, Lower limb hype... ORPHA:99013
Bone Dysplasia, Lethal Holmgren Type
Hypertrophic cardiomyopathy, Hepatomegaly, Atrial septal defect ORPHA:1842
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Episodic flaccid weakness OMIM:170500
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Spasticity, Hypogly... OMIM:124000
Arthrogryposis, Distal, Type 4
Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis, Torticollis, Camptodac... OMIM:609128
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertrophy OMIM:605676
Mucolipidosis Iii Gamma
Aortic valve stenosis, Aortic regurgitation, Claw hand deformity, Short neck, Hyperlordosis, Fing... OMIM:252605
Hall-Riggs Syndrome
Platyspondyly, Scoliosis, Kyphosis, Irregular vertebral endplates OMIM:234250
Mucopolysaccharidosis, Type Vii
Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo... OMIM:253220
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pericardium morpholog... ORPHA:183
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Abnormal tricuspid valve morpholo... ORPHA:192
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Cardiomyopathy, Insulin-resistant diabetes mellit... ORPHA:769
Cranioectodermal Dysplasia 2
Splenomegaly, Patent foramen ovale, Left ventricular hypertrophy, Atrial septal defect, Hepatomeg... OMIM:613610
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... OMIM:620278
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Joint contracture of the 5th finger, Scoliosis, Kyphosis, Camptodactyly of finger ORPHA:1883
Alpha-Mannosidosis, Infantile Form
Platyspondyly, Aortic regurgitation, Spastic paraplegia, Hepatosplenomegaly, Mitral regurgitation... ORPHA:309282
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Camptodactyly of finger, Abnormal heart morphology, Mitral regurgitation, L... ORPHA:284984
Spinocerebellar Ataxia 28
Ragged-red muscle fibers, Lower limb hypertonia OMIM:610246
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Decreased liver function, Congestive heart failure, Hepatosplenomega... ORPHA:85450
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Glycosuria, Congestive heart failure, Bundle branch block, H... ORPHA:466677
Xp21 Deletion Syndrome
Spasticity, Myopathy, Calf muscle hypertrophy, Decreased muscle mass ORPHA:261476
Neutrophilic Dermatosis, Acute Febrile
Dilated cardiomyopathy, Small vessel vasculitis OMIM:608068
Srd5A3-Cdg
Abnormal sacrum morphology, Kyphosis, Elevated circulating hepatic transaminase concentration, At... ORPHA:324737
Becker Nevus Syndrome
Spina bifida occulta, Scoliosis, Kyphosis, Shoulder girdle muscle atrophy ORPHA:64755
Microcephalic Primordial Dwarfism, Montreal Type
Scoliosis, Kyphosis, Hypertonia, Vertebral segmentation defect ORPHA:2617
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Scoliosis, Hyperlordosis, Sacral dimple OMIM:615761
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... OMIM:313400
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Diastasis recti, Cardiomegaly, Hepatomegaly, Macroglossia... OMIM:130650
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Kyphosis ORPHA:1858
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Cardiomyopathy, Punctate vasculitis skin lesions, Weakness of facial... ORPHA:247691
Noonan Syndrome 6
Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613224
Distal Deletion 12Q
Congenital hypertrophy of left ventricle, Maturity-onset diabetes of the young, Elbow flexion con... ORPHA:96149
Camurati-Engelmann Disease
Skeletal muscle atrophy, Abnormality of the vertebral column, Hypertrophic cardiomyopathy, Spleno... ORPHA:1328
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia ORPHA:79280
Smith-Mccort Dysplasia 1
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Short neck, Beaking ... OMIM:607326
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hypoplasia of the musculature, Small hypothenar eminence, Cardiomegaly, Thenar muscle atrophy, Mu... ORPHA:2463
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ... ORPHA:251071
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Splenomegaly, Myopathy ORPHA:169090
Malignant Hyperthermia Of Anesthesia
Cardiomyocyte mitochondrial proliferation, Necrotizing myopathy, Acute hepatic failure, Exercise-... ORPHA:423
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Thoracolumbar kyphosis, Hepatic fibrosis, Broad-based gait, Cholelithiasis, Aortic valve calcific... ORPHA:2072
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Spasticity, Inability to walk, Thoracolumbar scoliosis, Hyperlordosis, Ataxia, Hepatomegaly, Unst... OMIM:618443
Trichorhinophalangeal Syndrome, Type Ii
Bicuspid aortic valve, Myocardial infarction, Scapular winging, Partial anomalous pulmonary venou... OMIM:150230
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Congenital contracture, Subdural hemorrhage, Retinal ... OMIM:615368
Costello Syndrome
Hypertrophic cardiomyopathy, Thickened Achilles tendon, Mitral valve prolapse, Ventricular septal... ORPHA:3071
Basilar Impression, Primary
Short neck, Limb muscle weakness, Kyphoscoliosis OMIM:109500
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Mitral valve prolapse, Angina pectoris, ... ORPHA:758
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers OMIM:613662
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Mitral regurgitation, Knee flexion contracture, Ventricular septal defec... OMIM:603387
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal heart mo... ORPHA:464321
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Kyphosis, Ventricular septal defect, Limb hypertonia, Spastic tetr... OMIM:619909
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Abnormal T-wave, Tetraparesis, Episodic hemiplegia, Chorea, Cardiac conduction ab... ORPHA:2131
Hurler Syndrome
Abnormal vertebral morphology, Spastic paraparesis, Cardiomyopathy, Spinal canal stenosis, Campto... ORPHA:93473
Frank-Ter Haar Syndrome
Camptodactyly of finger, Mitral valve prolapse, Beaking of vertebral bodies, Scoliosis, Kyphosis ORPHA:137834
Multiple Endocrine Neoplasia, Type Iib
Kyphosis, Scoliosis, Hyperlordosis, Myopathy OMIM:162300
Mucopolysaccharidosis, Type Ivb
Platyspondyly, Aortic valve stenosis, Hypoplasia of the odontoid process, Mitral regurgitation, H... OMIM:253010
Localized Scleroderma
Vasculitis, Skeletal muscle atrophy, Myopathy, Arrhythmia, Raynaud phenomenon, Flexion contracture ORPHA:90289
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Congenital muscular torticollis, Hypoplastic vertebral bod... ORPHA:2916
Xanthinuria, Type I
Myopathy OMIM:278300
Autosomal Recessive Spondylocostal Dysostosis
Abnormal form of the vertebral bodies, Camptodactyly of finger, Congenital diaphragmatic hernia, ... ORPHA:2311
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Inabi... ORPHA:508533
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Scoliosis, Kyphosis OMIM:259440
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Bicuspid aortic v... ORPHA:91387
Fontaine Progeroid Syndrome
Abnormal heart morphology, Tricuspid regurgitation, Bicuspid aortic valve, Left ventricular hyper... OMIM:612289
Congenital Enterovirus Infection
Myocarditis, Hypotension, Pericardial effusion, Cardiomyopathy ORPHA:292
Mucopolysaccharidosis Type 4
Platyspondyly, Spinal canal stenosis, Abnormal heart valve morphology, Short neck, Gait disturban... ORPHA:582
Rift Valley Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Hemiparesis, Paralysis, Parap... ORPHA:319251
Vici Syndrome
Cardiomyopathy ORPHA:1493
Noonan Syndrome
Abnormal EKG, Hypertrophic cardiomyopathy, Abnormal pulmonary valve morphology, Arrhythmia, Aplas... ORPHA:648
Hurler-Scheie Syndrome
Aortic regurgitation, Camptodactyly of finger, Contracture of the distal interphalangeal joint of... OMIM:607015
1P36 Deletion Syndrome
Dilated cardiomyopathy, Annular pancreas, Spinal canal stenosis, Camptodactyly of finger, Abnorma... ORPHA:1606
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypertrophic cardiomyopathy, Hepatomegaly OMIM:618810
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:612938
Shashi-Pena Syndrome
Hypoglycemia, Cervical C2/C3 vertebral fusion, Limb hypertonia, Atrial septal defect, Scoliosis, ... OMIM:617190
Hypomelanosis Of Ito
Scoliosis, Kyphosis OMIM:300337
Agel Amyloidosis
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Abnormal spleen... ORPHA:85448
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... OMIM:203700
Glycerol Kinase Deficiency
Muscular dystrophy, Hypoglycemia, Chronic pancreatitis, Myopathy, Lethargy OMIM:307030
Hurler Syndrome
Aortic regurgitation, Cardiomyopathy, Hepatosplenomegaly, Endocardial fibroelastosis, Splenomegal... OMIM:607014
Brachyolmia Type 3
Platyspondyly, Short neck, Scoliosis, Kyphosis OMIM:113500
Oculoauriculovertebral Spectrum With Radial Defects
EMG: myopathic abnormalities, Maternal diabetes, Atrioventricular canal defect ORPHA:2549
Noonan Syndrome 7
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:613706
Mucolipidosis Ii Alpha/Beta
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Lower thoracic interpediculate narr... OMIM:252500
Mucolipidosis Iii Alpha/Beta
Hepatomegaly, Severely reduced left ventricular ejection fraction, Aortic regurgitation, Cardiomy... OMIM:252600
Steinert Myotonic Dystrophy
Hyperinsulinemia, Neck muscle weakness, Proximal muscle weakness, Ophthalmoplegia, Pelvic girdle ... ORPHA:273
Sanjad-Sakati Syndrome
Spinal canal stenosis, Myopathy ORPHA:2323
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Lumbar hyperlordosis... OMIM:183900
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Hepatic steatosis, Mitral regurgitation, Ventricular septal defect, Short n... ORPHA:254346
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Hereditary Spherocytosis
Cholelithiasis, Restrictive cardiomyopathy, Splenomegaly, Ataxia, Hepatomegaly, Jaundice, Muscle ... ORPHA:822
Cerebellar-Facial-Dental Syndrome
Foot joint contracture, Abnormal T-wave, Mitral valve prolapse, Ventricular septal defect, Limb h... ORPHA:444072
Hypotrichosis And Recurrent Skin Vesicles
Abnormal EKG OMIM:613102
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Platyspondyly, Spasticity, Spastic tetraplegia, Difficulty walking, Rig... OMIM:618476
Emanuel Syndrome
Aortic valve stenosis, Congenital diaphragmatic hernia, Ventricular septal defect, Truncus arteri... OMIM:609029
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Muscle fiber atrophy, Flexion contracture OMIM:620240
Genitopalatocardiac Syndrome
Abnormal mesentery morphology, Abnormality of the gallbladder, Congenital diaphragmatic hernia, A... ORPHA:2075
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Tremor, Ventricular septal defect, Atrial septal defect, Scapular winging, Sc... OMIM:617061
Hermansky-Pudlak Syndrome 1
Hematochezia, Epistaxis, Cardiomyopathy OMIM:203300
Williams Syndrome
Spasticity, Type II diabetes mellitus, Mitral regurgitation, Myopathy, Ventricular septal defect,... ORPHA:904
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Kyphosis, Lumbar hyperlordosis, Short neck, Waddling gait, Cervical instability, S... ORPHA:94068
Developmental Malformations-Deafness-Dystonia Syndrome
Macroglossia, Scoliosis, Kyphosis ORPHA:79107
African Trypanosomiasis
Difficulty walking, Hepatosplenomegaly, Hemiparesis, Arrhythmia, Hepatomegaly, Jaundice, Choreoat... ORPHA:3385
Hypotonia-Cystinuria Syndrome
Facial palsy, Neonatal hypoglycemia, Ragged-red muscle fibers OMIM:606407
Von Hippel-Lindau Disease
Upper limb muscle weakness, Cardiomyopathy, Palpitations, Distal lower limb muscle weakness, Arrh... ORPHA:892
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular block, Paroxysmal atrial fibrillation, Atrioventricular ... ORPHA:392
Noonan Syndrome 4
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:610733
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Glucose intolerance, Biconcave vertebral bodies, Vertebral compression f... OMIM:219090
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Camptodactyly of finger, S... ORPHA:628
Mucopolysaccharidosis, Type Vi
Hypoplasia of the odontoid process, Sinus tachycardia, Cardiomyopathy, Anterior wedging of L1, Tr... OMIM:253200
Mucopolysaccharidosis Type 1
Abnormal form of the vertebral bodies, Abnormal tendon morphology, Spinal canal stenosis, Hypertr... ORPHA:579
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Spasticity, Glycosuria, Exocrine pancreatic insufficiency, Hypertrophic cardiomyopathy, Glucose i... OMIM:616539
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Inhalational Botulism
Paralysis, Muscle weakness ORPHA:254504
Loeys-Dietz Syndrome 3
Aortic regurgitation, Ventricular hypertrophy, Mitral regurgitation, Mitral valve prolapse, Bicus... OMIM:613795
Marden-Walker Syndrome
Joint contracture of the hand, Congenital contracture, Decreased muscle mass, Short neck, Dextroc... OMIM:248700
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Rigidity, Abnormality of extrapyramidal motor function, Bulbar ... OMIM:617527
Paternal Uniparental Disomy Of Chromosome 6
Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomegaly, Hepatomega... ORPHA:96191
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Scoliosis, Kyphosis OMIM:619797
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis, Cerebral vasculitis ORPHA:83601
Aicardi-Goutières Syndrome
Spasticity, Elevated circulating hepatic transaminase concentration, Spastic paraparesis, Difficu... ORPHA:51
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:94080
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Scoliosis, Kyphosis, Pulmoni... OMIM:609008
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent U wave, Prolonged QTc interval, Periodic hypokalemic paresis, Bidirectional ventricular... OMIM:170390
Mucopolysaccharidosis-Plus Syndrome
Congestive heart failure, Inability to walk, Hypertrophic cardiomyopathy, Splenomegaly, Short nec... OMIM:617303
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Kyphosis OMIM:300676
Combined Oxidative Phosphorylation Deficiency 37
Spasticity, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased live... OMIM:618329
15Q24 Microdeletion Syndrome
Abnormal heart morphology, Congenital diaphragmatic hernia, Scoliosis, Kyphosis ORPHA:94065
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis, Hypertension OMIM:145260
Microcephaly 13, Primary, Autosomal Recessive
Restrictive cardiomyopathy OMIM:616051
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Inability to walk, Abnormal heart morphology, Lumbar hyperlordosis, Hep... ORPHA:505248
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Inability to walk, Elbow flexion contracture, Hip contracture, Unsteady gait, Scoliosis, Kyphosis OMIM:618493
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Facial palsy, Skeletal muscle atrophy, Abnormal muscle fiber morphology ORPHA:3068
4Q21 Microdeletion Syndrome
Short neck, Scoliosis, Kyphosis, Tremor ORPHA:238750
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonar... ORPHA:95430
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia, Periodic paralysis, Tremor OMIM:613239
Gm1 Gangliosidosis Type 1
Platyspondyly, Spasticity, Cardiomyopathy, Beaking of vertebral bodies T12-L3, Hepatosplenomegaly... ORPHA:79255
Developmental And Epileptic Encephalopathy 95
Multiple joint contractures, Cardiomegaly, Hepatomegaly, Macroglossia, Arthrogryposis multiplex c... OMIM:618143
Rhizomelic Syndrome, Urbach Type
Short neck, Kyphosis, Abnormal form of the vertebral bodies, Pulmonic stenosis ORPHA:3098
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension ORPHA:231625
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short neck, Kyphosis, Hyperlordosis, Fused cervical vertebrae ORPHA:2522
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Arthrogryposis multiplex congenita OMIM:608013
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Ven... OMIM:309801
Primary Hyperoxaluria
Arterial occlusion, Cardiomyopathy, Intermittent claudication, Raynaud phenomenon, Heart block ORPHA:416
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cardiomyopathy, Abnormal cardiac septum morphology OMIM:217980
Urban-Rogers-Meyer Syndrome
Short neck, Kyphosis, Camptodactyly of finger, Flexion contracture of toe ORPHA:3409
Martsolf Syndrome 1
Cardiac arrest, Cardiomyopathy, Congestive heart failure OMIM:212720
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Hepatosplenomegaly, Splenomegaly, Myopathy, Mitral regurgitation, ... OMIM:612541
Noonan Syndrome 14
Aortic regurgitation, Hypertrophic cardiomyopathy, Mitral valve prolapse, Scapular winging, Pulmo... OMIM:619745
Hereditary Xanthinuria
Myopathy ORPHA:3467
3C Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:7
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Camptodactyly of finger, Mitral regurgitation, Gait disturbance, Lower limb... ORPHA:261349
Familial Glucocorticoid Deficiency
Hypertrophic cardiomyopathy, Hypotension, Hypoglycemic seizures, Ketotic hypoglycemia ORPHA:361
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Platyspondyly, Thoracolumbar kyphosis, Elbow flexion contracture, Kyphoscoliosis, Abnormal curvat... ORPHA:93360
Mucopolysaccharidosis Type 3
Atrioventricular block, Reduced left ventricular ejection fraction, Splenomegaly, Abnormal mitral... ORPHA:581
Pseudoachondroplasia
Platyspondyly, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Lumbar hyperlordosis... OMIM:177170
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Splenomegaly, Cardiomyopathy OMIM:616084
Noonan Syndrome 2
Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Mitral stenosis, Mitr... OMIM:605275
Lipodystrophy, Congenital Generalized, Type 1
Cardiomyopathy, Generalized muscular appearance from birth, Hyperinsulinemia, Splenomegaly, Hepat... OMIM:608594
Brugada Syndrome 4
Atrial fibrillation, Syncope, Shortened QT interval OMIM:611876
Microform Holoprosencephaly
EMG: myopathic abnormalities, Tetralogy of Fallot, Scoliosis, Maternal diabetes ORPHA:280200
Multiple Pterygium Syndrome, Escobar Variant
Diaphragmatic eventration, Anterior clefting of vertebral bodies, Arthrogryposis multiplex congen... OMIM:265000
Fucosidosis
Splenomegaly, Cardiomegaly, Hepatomegaly, Macroglossia, Flexion contracture, Generalized amyotrophy OMIM:230000
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Camptodactyly of finger, Tremor, Short neck, Scoliosis, Kyphosis ORPHA:85293
Leopard Syndrome 1
Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch block, Complete a... OMIM:151100
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Telangiectasia of ... ORPHA:3342
Anaplastic Thyroid Carcinoma
Abnormal skeletal muscle morphology, Vocal cord paralysis ORPHA:142
Mucopolysaccharidosis Type 6
Abnormal heart valve morphology, Splenomegaly, Short neck, Macroglossia, Kyphosis, Ovoid vertebra... ORPHA:583
Rett Syndrome, Congenital Variant
Spasticity, Chorea, Apraxia, Athetosis, Scoliosis, Kyphosis OMIM:613454
Desbuquois Dysplasia 1
Platyspondyly, Short neck, Hyperlordosis, Scoliosis, Kyphosis, Waddling gait OMIM:251450
Cockayne Syndrome Type 3
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Subdural hemorr... ORPHA:90324
Bohring-Opitz Syndrome
Congenital contracture, Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia, Facial hyp... ORPHA:97297
Congenital Myopathy 17
Distal arthrogryposis, Myopathy, Diaphragmatic eventration OMIM:618975
Mitochondrial Neurogastrointestinal Encephalomyopathy
Foot dorsiflexor weakness, Ragged-red muscle fibers, Decreased muscle mass, Abnormality of the ex... ORPHA:298
Dyggve-Melchior-Clausen Disease
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Short neck, Beaking of v... OMIM:223800
Mucopolysaccharidosis, Type Ii
Congestive heart failure, Abnormal heart valve morphology, Hepatosplenomegaly, Splenomegaly, Shor... OMIM:309900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Restrictive cardiomyopathy, Ankle clonus, Babinski sign, Ataxia, Scoliosis OMIM:615398
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Thanatophoric Dysplasia
Platyspondyly, Atrial septal defect, Abnormal sacroiliac joint morphology, Kyphosis ORPHA:2655
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Spasticity, Difficulty walking, Inability to walk, Contracture of the proximal in... ORPHA:464738
Trisomy 20P
Platyspondyly, Abnormal form of the vertebral bodies, Camptodactyly of finger, Incoordination, Ve... ORPHA:261318
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Mucopolysaccharidosis Type 2
Contractures of the large joints, Cardiomyopathy, Abnormal heart morphology, Abnormal heart valve... ORPHA:580
Plaa-Associated Neurodevelopmental Disorder
Contractures of the large joints, Rigidity, Abnormality of extrapyramidal motor function, Progres... ORPHA:521426
Ruvalcaba Syndrome
Scoliosis, Kyphosis OMIM:180870
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Spasticity, Gait imbalance, Tremor, Prominent protruding coccyx, Short neck, Prominent coccyx, Ga... OMIM:300966
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple OMIM:618272
Glossopharyngeal Neuralgia
Abnormality of the cervical spine, Syncope, Vocal cord paralysis, Bradycardia, Jaw claudication, ... ORPHA:221098
Atelis Syndrome 2
Hyperinsulinemia, Dysmetria, Vitreous hemorrhage, Pulmonic stenosis, Supravalvar pulmonary stenos... OMIM:620185
Clark-Baraitser syndrome
Scoliosis, Kyphosis OMIM:300602
Cartilage-Hair Hypoplasia
Biconvex vertebral bodies, Abnormal form of the vertebral bodies, Cardiomyopathy, Abnormally ossi... ORPHA:175
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Rhabdomyolysis,... ORPHA:90068
Mucopolysaccharidosis Type 2, Severe Form
Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Hepatosplenomegaly, Abn... ORPHA:217085
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Hypoplastic tricuspid valve, Congenital defect of t... ORPHA:2255
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Intention tremor, Knee flexion contracture, Dysmetria, Head titubation, Ataxia, Kyphosis OMIM:619708
Lipodystrophy, Congenital Generalized, Type 2
Generalized muscular appearance from birth, Hypertrophic cardiomyopathy, Hyperinsulinemia, Type I... OMIM:269700
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Ventricular hypertrophy, Mitral regurgitation, Intervertebral space narrow... OMIM:143095
Lateral Meningocele Syndrome
Decreased muscle mass, Biconcave vertebral bodies, Ventricular septal defect, Bicuspid aortic val... OMIM:130720
3M Syndrome
Increased vertebral height, Short neck, Hyperlordosis, Scapular winging, Scoliosis, Kyphosis ORPHA:2616
Trichothiodystrophy
Spasticity, Cardiomyopathy, Gait ataxia, Multiple joint contractures, Ventricular septal defect, ... ORPHA:33364
Dermatomyositis
Vasculitis, Elevated circulating hepatic transaminase concentration, Sinus tachycardia, Inflammat... ORPHA:221
Mucopolysaccharidosis Type 2, Attenuated Form
Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Hepatosplenomegaly, Abn... ORPHA:217093
Foxg1 Syndrome Due To 14Q12 Microdeletion
Macroglossia, Scoliosis, Kyphosis ORPHA:261144
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis OMIM:615433
Simpson-Golabi-Behmel Syndrome
Cardiomyopathy, Camptodactyly of finger, Bundle branch block, Hypoglycemia, Congenital diaphragma... ORPHA:373
Noonan Syndrome 3
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Patent foramen ova... OMIM:609942
Ogden Syndrome
Secundum atrial septal defect, Torsade de pointes, Premature atrial contractions, Supraventricula... OMIM:300855
Stickler Syndrome, Type I
Platyspondyly, Spondylolisthesis, Mitral valve prolapse, Morbus Scheuermann, Beaking of vertebral... OMIM:108300
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contracture, Congestive heart fai... OMIM:256040
Fliedner-Zweier Syndrome
Ventricular septal defect, Bicuspid aortic valve, Hypertonia, Scoliosis, Kyphosis OMIM:620511
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Flexion contracture, Gait disturbance, Scoliosis, Kyphosis ORPHA:500055
Congenital Disorder Of Glycosylation, Type Il
Splenomegaly, Short neck, Atrial septal defect, Hepatomegaly, Pericardial effusion, Kyphosis OMIM:608776
Tyrosinemia, Type I
Hepatic failure, Elevated circulating hepatic transaminase concentration, Gastrointestinal hemorr... OMIM:276700
Aicardi-Goutieres Syndrome 7
Vasculitis, Hematochezia, Hepatitis, Tetraparesis, Hypertrophic cardiomyopathy, Splenomegaly, Hep... OMIM:615846
Magel2-Related Prader-Willi-Like Syndrome
Impaired temperature sensation, Type II diabetes mellitus, Lethargy, Atrial septal defect, Flexio... ORPHA:398069
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Arrhythmia, Hypertension OMIM:614052
Acth-Independent Macronodular Adrenal Hyperplasia
Hypertension, Skeletal muscle atrophy, Kyphosis OMIM:219080
Stromme Syndrome
Accessory spleen, Myopathy OMIM:243605
Pearson Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Glycosuria, Cardiomyopa... ORPHA:699
Cutis Laxa, Autosomal Recessive, Type Iid
Congestive heart failure, Hypertrophic cardiomyopathy, Right bundle branch block, Atrial septal d... OMIM:617403
Hypocalcemic Vitamin D-Dependent Rickets
Hepatomegaly, Splenomegaly, Cardiomyopathy ORPHA:289157
Thanatophoric Dysplasia Type 2
Platyspondyly, Atrial septal defect, Kyphosis ORPHA:93274
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy OMIM:618222
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Hamamy Syndrome
Mitral regurgitation, Prolonged QRS complex, Complete atrioventricular canal defect, Atrial septa... OMIM:611174
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle fiber atrophy, Increased muscle lipid content, Rhabdomyolysis ORPHA:228302
Cardiofacioneurodevelopmental Syndrome
Abdominal situs inversus, Atrioventricular canal defect, Ventricular septal defect, Camptodactyly... OMIM:619123
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Atrial septal defect, Scoliosis, Kyphosis, Ventricular septal defect ORPHA:261190
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Gait ataxia, Complete atrioventricular canal defect, Tremor, Scoliosis, Kyphosis ORPHA:476126
Acro-Renal-Mandibular Syndrome
Butterfly vertebrae, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Scoliosis, Kyphosis ORPHA:958
Juvenile Amyotrophic Lateral Sclerosis
Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Muscle fiber atrophy, R... ORPHA:300605
Dysostosis, Stanescu Type
Short neck, Hyperlordosis, Macroglossia, Scoliosis, Kyphosis ORPHA:1798
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Difficulty walking, Lumbar hyperlordosis, Gait ataxia, Kyphoscoliosis, Facial hypotonia, Neonatal... ORPHA:457359
Mucoepithelial Dysplasia, Hereditary
Cor pulmonale, Corneal neovascularization, Melena OMIM:158310
Cockayne Syndrome
Spasticity, Difficulty walking, Action tremor, Ataxia, Hepatomegaly, Somatic sensory dysfunction,... ORPHA:191
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Abnormality of the vertebral column, Abnormal form of the vertebra... ORPHA:280
Trisomy 9P
Short neck, Scoliosis, Kyphosis, Sacral dimple ORPHA:236
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Megalocornea-Intellectual Disability Syndrome
Scoliosis, Kyphosis, Ataxia ORPHA:2479
Difference Of Sex Development-Intellectual Disability Syndrome
Spina bifida occulta, Short neck, Kyphosis ORPHA:2983
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defect, Camptodactyly, ... OMIM:617602
Toriello-Carey Syndrome
Tetralogy of Fallot, Cardiomyopathy, Abnormal cardiac septum morphology, Pulmonic stenosis ORPHA:3338
Achondroplasia
Thoracolumbar kyphosis, Cervical spinal canal stenosis, Lumbar hyperlordosis, Spinal canal stenos... ORPHA:15
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Spasticity, Hemiplegia, Hemiparesis, Rigidity, Tricuspid valve prolapse, P... ORPHA:2396
Koolen-De Vries Syndrome
Spondylolisthesis, Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis, Hypotroph... OMIM:610443
Beckwith-Wiedemann Syndrome
Visceromegaly, Hypoglycemia, Hypertrophic cardiomyopathy, Diastasis recti, Congenital diaphragmat... ORPHA:116
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Tricuspid regurgitation, Patent foramen ovale, Cardiomegaly, Vitreous hemorrhage, Limb hypertonia... OMIM:620371
Distal Triplication 15Q
Abnormal heart morphology, Atrial septal defect, Camptodactyly, Flexion contracture, Scoliosis, K... ORPHA:314588
X-Linked Intellectual Disability, Snyder Type
Involuntary movements, Decreased muscle mass, Inability to walk, Myoclonus, Kyphoscoliosis, Campt... ORPHA:3063
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Skeletal muscle atrophy, Hypertrophic cardiomyopa... ORPHA:508
Osteogenesis Imperfecta, Type Iii
Pulmonary arterial hypertension, Scoliosis, Kyphosis, Biconcave vertebral bodies OMIM:259420
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormality of the vertebral column, Hemivertebrae, Abnormal intervertebral disk morphology, Scol... ORPHA:2062
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:613673
Lambert-Eaton Myasthenic Syndrome
Progressive proximal muscle weakness ORPHA:43393
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Patent foramen ovale,... OMIM:617506
Trisomy 13
Atrial septal defect, Scoliosis, Kyphosis, Ventricular septal defect ORPHA:3378
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Camptodactyly of finger, Congenital ... ORPHA:2215
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Muscle fiber atrophy... OMIM:182250
Cockayne Syndrome A
Splenomegaly, Hip contracture, Tremor, Arrhythmia, Gait disturbance, Ataxia, Hepatomegaly, Hypert... OMIM:216400
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal heart morphology, Scoliosis, Kyphosis, Ventricular septal defect ORPHA:404440
Weaver Syndrome
Joint contracture of the hand, Spasticity, Diastasis recti, Hypertonia, Camptodactyly, Scoliosis,... OMIM:277590
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure ORPHA:73224
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Mitral valve prolapse, Angina pectoris, Cerebral hemorrhage, Retinal... OMIM:177850
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly OMIM:618278
Fountain Syndrome
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3219
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal pulse pressure, Sinus tachycardia, Abnormal T-wave, Rhabdomyolysis, ST segm... ORPHA:466650
Intellectual Developmental Disorder, Autosomal Dominant 54
Inability to walk, Hyperkinetic movements, Lower limb spasticity, Vocal cord paralysis, Ataxia, P... OMIM:617799
Basel-Vanagaite-Smirin-Yosef Syndrome
Spasticity, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal defect, Sco... OMIM:616449
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure ORPHA:508542
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Secundum atrial septal defect, Scoliosis, Kyphosis, Camptodactyly of finger OMIM:619951
Prader-Willi Syndrome
Impaired pain sensation, Decreased muscle mass, Hyperinsulinemia, Type II diabetes mellitus, Poor... OMIM:176270
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Scoliosis, Kyphosis ORPHA:3121
Alkaptonuria
Aortic valve calcification, Intervertebral disk degeneration, Thickened Achilles tendon, Low back... OMIM:203500
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Spasticity, Kyphoscoliosis, Ventricular septal defect, Perimembranous ventricular septal defect, ... OMIM:301040
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma, Vocal cord paralysis OMIM:605373
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Spasticity, Hepatic steatosis, Ventricular septal defect, Bicuspid aortic valve... OMIM:619475
Hermansky-Pudlak Syndrome
Epistaxis, Gastrointestinal hemorrhage, Cardiomyopathy ORPHA:79430
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Short neck, Kyphosis ORPHA:3082
Lateral Meningocele Syndrome
Abnormal form of the vertebral bodies, Ventricular septal defect, Short neck, Hyperlordosis, Scol... ORPHA:2789
Cystinosis, Nephropathic
Skeletal muscle atrophy, Glycosuria, Exocrine pancreatic insufficiency, Splenomegaly, Myopathy, H... OMIM:219800
Marden-Walker Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:2461
Spondyloenchondrodysplasia
Platyspondyly, Vasculitis, Spasticity, Hepatitis, Chorea, Raynaud phenomenon, Hypertension, Kyphosis ORPHA:1855
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Alstrom Syndrome
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Insulin-resistan... OMIM:203800
Classical-Like Ehlers-Danlos Syndrome Type 2
Impaired temperature sensation, Mitral valve prolapse, Thoracic scoliosis, Kyphoscoliosis, Perica... ORPHA:536532
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Abnormal tendon morphology, Supravalvular aortic stenosis, Mitral regurgita... ORPHA:391665
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Ankle flexion contracture, Aortic regurgitation, Ventricular septal defect... ORPHA:464311
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Platyspondyly, Thoracolumbar kyphosis, Thoracic platyspondyly, Knee flexion contracture, Thoracol... OMIM:618019
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Kyphosis, Caudal interpedicular narrowing, Scoliosis, Posterior scalloping of vertebral bodies, I... OMIM:603546
Intellectual Developmental Disorder, Autosomal Dominant 57
Tip-toe gait, Scoliosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th f... OMIM:618050
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Mitral regurgitation, Ventricular septal defect, Scoliosis, Kyphosis ORPHA:261250
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Scoliosis, Kyphosis, Abnormal mitral valve morphology, Skeletal muscle atrophy ORPHA:1969
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defec... OMIM:607721
Cardiofaciocutaneous Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Atrial septal defect, Pulmonic sten... ORPHA:1340
Koolen-De Vries Syndrome
Vertebral segmentation defect, Bicuspid aortic valve, Abnormal cardiac septum morphology, Vertebr... ORPHA:96169
Thanatophoric Dysplasia Type 1
Platyspondyly, Atrial septal defect, Abnormal sacroiliac joint morphology, Kyphosis ORPHA:1860
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Congenital diaphrag... ORPHA:2556
Postinfectious Vasculitis
Bacterial endocarditis, Cerebral vasculitis, Cardiomyopathy, Ischemic stroke, Raynaud phenomenon,... ORPHA:48435
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Aortic regurgitation, Multiple joint contractures, Ventricular septal defe... ORPHA:464306
Intellectual Developmental Disorder, Autosomal Dominant 73
Spasticity, Tip-toe gait, Lumbar hyperlordosis, Knee flexion contracture, Apraxia, Thoracolumbar ... OMIM:620450
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Contracture of the proximal interphalangeal joint of the 3rd finger, Short neck, Double outlet ri... OMIM:618223
Castleman Disease
Restrictive cardiomyopathy ORPHA:160
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal right ventricle morphology, Mitral valve prolapse, Ventricular septal defect, Camptodact... ORPHA:500095
Poland Syndrome
Abnormality of the liver, Congenital diaphragmatic hernia, Vertebral segmentation defect, Short n... ORPHA:2911
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Small vessel vasculitis OMIM:620376
Bardet-Biedl Syndrome
Insulin resistance, Hepatic fibrosis, Spasticity, Elevated circulating hepatic transaminase conce... ORPHA:110
Osteogenesis Imperfecta
Aortic regurgitation, Cervical kyphosis, Abnormal form of the vertebral bodies, Somatic sensory d... ORPHA:666
Distal 16P11.2 Microdeletion Syndrome
Kyphosis ORPHA:261222
Microphthalmia, Lenz Type
Kyphosis, Scoliosis, Hyperlordosis, Camptodactyly of finger ORPHA:568
Cono-Spondylar Dysplasia
Short neck, Poor coordination, Scoliosis, Kyphosis ORPHA:420794
Holt-Oram Syndrome
Atrioventricular dissociation, Mitral regurgitation, Hypoplasia of deltoid muscle, Mitral valve p... OMIM:142900
Koolen-De Vries Syndrome Due To A Point Mutation
Cervical spinal canal stenosis, Cardiomyopathy, Abnormal heart morphology, Speech apraxia, Spondy... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cervical spinal canal stenosis, Cardiomyopathy, Abnormal heart morphology, Speech apraxia, Spondy... ORPHA:363958
Pycnodysostosis
Spondylolysis, Hepatosplenomegaly, Spondylolisthesis, Hyperlordosis, Upper motor neuron dysfuncti... ORPHA:763
Cole-Carpenter Syndrome
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2050
Costello Syndrome
Hypoglycemia, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Arrh... OMIM:218040
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Congestive heart failure, Lumbar hyperlordosis, Pulmonary arterial hypertension, K... OMIM:616482
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension, Kyphosis, Scapular winging, Mitral valve prolapse OMIM:616914
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Bilateral camptodactyly, Scoliosis, Kyphosis OMIM:619557
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect... OMIM:616894
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Scoliosis, Kyphosis, Vertebral segmentation defect ORPHA:1005
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Abnormal heart morphology, Restrictive cardiomyopathy, Atrial septal defect ORPHA:369837
Harrod Syndrome
Scoliosis, Kyphosis ORPHA:2115
Acromegaly
Cerebral palsy, Hypertrophic cardiomyopathy, Paresthesia, Mitral regurgitation, Hypertension, Mac... ORPHA:963
Frank-Ter Haar Syndrome
Secundum atrial septal defect, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Mitral v... OMIM:249420
Somatomammotropinoma
Cerebral palsy, Hypertrophic cardiomyopathy, Paresthesia, Mitral regurgitation, Hypertension, Mac... ORPHA:314769
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Scoliosis, Kyphosis OMIM:166220
Combined Oxidative Phosphorylation Deficiency 58
Ragged-red muscle fibers, Hypoglycemia OMIM:620451
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonary arterial ... ORPHA:3472
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Sacroiliac arthritis, Back pain, Arrhythmia, Kyphosis OMIM:106300
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Left ventricular systolic dysfunction, Transient ischemic attack, Retina... ORPHA:51608
2Q31.1 Microdeletion Syndrome
Camptodactyly of finger, Vertebral segmentation defect, Ventricular septal defect, Short neck, At... ORPHA:251014
Oculoectodermal Syndrome
Hypertrophic cardiomyopathy, Transient ischemic attack, Atrial septal defect OMIM:600268
Marshall-Smith Syndrome
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Kyphoscoliosis, Thoracic scoliosis,... OMIM:602535
Cockayne Syndrome B
Splenomegaly, Tremor, Arrhythmia, Ataxia, Hepatomegaly, Hypertension, Kyphosis, Muscle weakness OMIM:133540
Mosaic Trisomy 20
Spinal canal stenosis, Abnormal mitral valve morphology, Vertebral segmentation defect, Ventricul... ORPHA:1724
Native American Myopathy
Congenital contracture, Skeletal muscle atrophy, Muscle fiber atrophy, Camptodactyly, Abnormality... ORPHA:168572
Micro Syndrome
Spasticity, Scoliosis, Kyphosis ORPHA:2510
Cole-Carpenter Syndrome 2
Platyspondyly, Kyphosis OMIM:616294
Liver Disease, Severe Congenital
Dilatation of the ventricular cavity, Splenomegaly, Patent foramen ovale, Ventricular septal defe... OMIM:619991
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Pulmonary e... ORPHA:394
Spondyloperipheral Dysplasia
Platyspondyly, Short neck, Kyphosis, Ovoid vertebral bodies, Irregular vertebral endplates OMIM:271700
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Kyphosis, Scoliosis, Gait ataxia, Hyperlordosis OMIM:617011
Zimmermann-Laband Syndrome 1
Hepatomegaly, Splenomegaly, Cardiomyopathy OMIM:135500
Cowden Syndrome 5
Scoliosis, Kyphosis, Intention tremor OMIM:615108
Orofaciodigital Syndrome Iii
Myoclonus, Kyphosis OMIM:258850
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Ragged-red muscle fibers OMIM:614924
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Broad-based gait, Abnormal heart morphology, Abnorma... ORPHA:268261
Chromosome Xq26.3 Duplication Syndrome
Ventricular hypertrophy, Kyphosis OMIM:300942
Cowden Syndrome 6
Scoliosis, Kyphosis, Intention tremor OMIM:615109
Distal Renal Tubular Acidosis
Paralysis, Muscle weakness, Respiratory insufficiency due to muscle weakness ORPHA:18
Pigmented Nodular Adrenocortical Disease, Primary, 2
Hypertension, Kyphosis OMIM:610475
Cowden Syndrome
Ataxia, Macroglossia, Scoliosis, Kyphosis, Mucosal telangiectasiae ORPHA:201
Mgat2-Cdg
Abnormal heart morphology, Ventricular septal defect, Arrhythmia, Scoliosis, Kyphosis, Reflex asy... ORPHA:79329
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis, Muscle weakness OMIM:239000
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Elbow flexion contracture, Hip contracture, Knee flexion contracture, Short neck, Hypertonia, Mac... OMIM:619194
Monosomy 9Q22.3
Abnormality of the vertebral column, Cardiac fibroma, Short neck, Rhabdomyosarcoma, Kyphosis ORPHA:77301
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small hypothenar eminence, Non-obstructive azoospermia, Lumbar hyperlordosis, Contracture of the ... ORPHA:2232
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Increased endomysial connective tissue, Muscular dystrophy, Flexion contracture OMIM:613154
Autosomal Recessive Robinow Syndrome
Camptodactyly of finger, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Abnormal tricu... ORPHA:1507
Campomelic Dysplasia
Short neck, Scoliosis, Kyphosis, Poorly ossified cervical vertebrae ORPHA:140
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Lower limb dysmetria, Abnormal heart morphology, Hypertrophic cardiomyopathy, Mitral regurgitatio... ORPHA:363700
Smith-Lemli-Opitz Syndrome
Abnormal form of the vertebral bodies, Atrioventricular canal defect, Abnormality of the gallblad... ORPHA:818
Cowden Syndrome 1
Scoliosis, Kyphosis, Intention tremor OMIM:158350
Aspartylglucosaminuria
Platyspondyly, Spondylolysis, Spasticity, Spondylolisthesis, Mitral regurgitation, Beaking of ver... OMIM:208400
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Impaired pain sensation, Decreased heart rate variability, Hepatomegaly, Scoliosis, Kyphosis OMIM:619005
Osteoporosis-Pseudoglioma Syndrome
Platyspondyly, Biconcave vertebral bodies, Kyphoscoliosis, Ventricular septal defect, Severe plat... OMIM:259770
Zttk Syndrome
Aortic regurgitation, Spasticity, Absent gallbladder, Ventricular septal defect, Atrial septal de... OMIM:617140
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Difficulty walking, Scoliosis, Kyphosis, Sinus bradycardia OMIM:619482
Mend Syndrome
Aortic valve stenosis, Abnormal heart morphology, Limb hypertonia, Kyphosis, Sacral dimple ORPHA:401973
Cohen Syndrome
Scoliosis, Kyphosis, Mitral valve prolapse, Ventricular septal defect ORPHA:193
Cystic Fibrosis
Cor pulmonale, Hepatomegaly, Hepatosplenomegaly OMIM:219700
Intellectual Developmental Disorder, X-Linked 112
Abnormal heart morphology, Kyphoscoliosis, Bicuspid aortic valve, Scoliosis, Kyphosis OMIM:301111
Pineoblastoma
Paralysis, Lethargy ORPHA:251909
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Vertebral compression fracture, Scoliosis, Kyphosis OMIM:610915
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis OMIM:619244
Tsh-Secreting Pituitary Adenoma
Hypotension, Periodic hypokalemic paresis, Oculomotor nerve palsy, Congestive heart failure, Palp... ORPHA:91347
Pigmented Nodular Adrenocortical Disease, Primary, 1
Hypertension, Kyphosis OMIM:610489
Marfan Syndrome
Aortic regurgitation, Skeletal muscle atrophy, Congestive heart failure, Mitral regurgitation, Sp... ORPHA:558
Williams-Beuren Syndrome
Poor coordination, Myxomatous mitral valve degeneration, Coronary artery stenosis, Incoordination... OMIM:194050
Woodhouse-Sakati Syndrome
Diabetes mellitus, Abnormal T-wave OMIM:241080
Stickler Syndrome
Platyspondyly, Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Spinal canal steno... ORPHA:828
Hajdu-Cheney Syndrome
Aortic valve stenosis, Hypoplastic 5th lumbar vertebrae, Splenomegaly, Biconcave vertebral bodies... ORPHA:955
Neurofibromatosis Type 1
Paresthesia, Hypertension, Ataxia, Rhabdomyosarcoma, Scoliosis, Kyphosis ORPHA:636
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Interphalangeal joint contracture of finger, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Dia... ORPHA:96334
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Insulin-resistant diabetes mellitus, Abnormal T-wave ORPHA:3464
Proteus Syndrome
Pulmonary embolism, Abnormal form of the vertebral bodies, Decreased muscle mass, Myofibrillar my... ORPHA:744
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Hypertension ORPHA:2769
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Hepatic fibrosis, Hypoplastic left heart, Elevated circulating hepatic... ORPHA:99413
Mosaic Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Hypoplastic left heart, Elevated circulating hepatic... ORPHA:99228
Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Hypoplastic left heart, Elevated circulating hepatic... ORPHA:99226
Turner Syndrome
Cholestatic liver disease, Hepatic fibrosis, Hypoplastic left heart, Elevated circulating hepatic... ORPHA:881
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Distal amyotrophy, Ragged-red muscle fibers OMIM:603041
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Arrhythmia, Kyphosis, Ventricular septal defect OMIM:153400
Coffin-Siris Syndrome 1
Tetralogy of Fallot, Gait ataxia, Congenital diaphragmatic hernia, Ventricular septal defect, Atr... OMIM:135900
Wolf-Hirschhorn Syndrome
Accessory spleen, Abnormal form of the vertebral bodies, Decreased muscle mass, Biliary tract abn... OMIM:194190
Primrose Syndrome
Distal amyotrophy, Kyphosis, Skeletal muscle atrophy, Glucose intolerance, Hip contracture, Knee ... OMIM:259050
Chromosome 1P36 Deletion Syndrome, Distal
Dilated cardiomyopathy, Camptodactyly of finger, Tetralogy of Fallot, Patent foramen ovale, Ventr... OMIM:607872
17Q11 Microdeletion Syndrome
Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3, Abnormal heart morpholog... ORPHA:97685
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Scoliosis, Kyphosis OMIM:619718
Lenz-Majewski Hyperostotic Dwarfism
Facial palsy, Scoliosis, Kyphosis ORPHA:2658
Noonan Syndrome 1
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:163950
Cdags Syndrome
Kyphosis OMIM:603116
Mend Syndrome
Aortic valve stenosis, Hypertonia, Kyphosis, Sacral dimple OMIM:300960
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Alström Syndrome
Incoordination, Hepatosplenomegaly, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosi... ORPHA:64
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cardiomyopathy, Difficulty walking, Thoracolumbar scoliosis, Atrial septal defect, Cyst of the du... ORPHA:480880
Shprintzen Omphalocele Syndrome
Lumbar hyperlordosis, Scoliosis, Kyphosis OMIM:182210
Pmm2-Cdg
Platyspondyly, Hepatic fibrosis, Insulin resistance, Elevated circulating hepatic transaminase co... ORPHA:79318
Wrinkly Skin Syndrome
Hypoplasia of the musculature, Muscular ventricular septal defect, Scapular winging, Atrial septa... OMIM:278250
Sotos Syndrome
Abnormal vertebral morphology, Ankle flexion contracture, Poor coordination, Abnormal heart morph... ORPHA:821
Cleidocranial Dysplasia 1
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
Ramon Syndrome
Telangiectasia, Scoliosis, Kyphosis OMIM:266270
Occipital Horn Syndrome
Platyspondyly, Hepatitis, Cholestasis, Jaundice, Scoliosis, Kyphosis ORPHA:198
Osteopetrosis, Autosomal Recessive 3
Hepatosplenomegaly, Periodic hypokalemic paresis OMIM:259730
Spondyloepimetaphyseal Dysplasia, X-Linked
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Anterior wedging of T11,... OMIM:300106
Oculocerebrorenal Syndrome Of Lowe
Platyspondyly, Azoospermia, Clonus, Scoliosis, Kyphosis ORPHA:534
Cerebrocostomandibular Syndrome
Kyphosis, Ventricular septal defect ORPHA:1393
Occipital Horn Syndrome
Platyspondyly, Kyphosis, Orthostatic hypotension OMIM:304150
Lowe Oculocerebrorenal Syndrome
Platyspondyly, Joint contracture of the hand, Camptodactyly of finger, Scoliosis, Kyphosis OMIM:309000
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis ORPHA:85199
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Pulmonary a... OMIM:216340
Pallister-Killian Syndrome
Aortic valve stenosis, Camptodactyly of 2nd-5th fingers, Inability to walk, Hypertrophic cardiomy... OMIM:601803
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal vertebral morphology, Platyspondyly, Abnormality of the vertebral column, Camptodactyly ... ORPHA:2273
Coffin-Lowry Syndrome
Mitral regurgitation, Lumbar kyphosis, Scoliosis, Kyphosis OMIM:303600
Branchiooculofacial Syndrome
Elbow flexion contracture, Short neck, Hyperlordosis, Facial palsy, Kyphosis OMIM:113620

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 Gaa

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 Gaa.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Gaatm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Gaatm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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