Gene Summary

Name:
chromodomain helicase DNA binding protein 4
Synonyms:
Mi-2beta,  D6Ertd380e,  9530019N15Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic lethality prior to organogenesis Chd4tm1b(EUCOMM)Wtsi HOM   E9.5 0.00
preweaning lethality, complete penetrance Chd4tm1b(EUCOMM)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (4 of 4)
Aorta  Wholemount images heterozygote 100% (4 of 4)
Bone  Wholemount images heterozygote 100% (4 of 4)
Brain  Wholemount images heterozygote 100% (4 of 4)
Brainstem  Wholemount images heterozygote 100% (4 of 4)
Brown adipose tissue  Wholemount images heterozygote 100% (4 of 4)
Cartilage tissue  Wholemount images heterozygote 100% (4 of 4)
Cerebellum  Wholemount images heterozygote 100% (4 of 4)
Cerebral cortex  Wholemount images heterozygote 100% (4 of 4)
Esophagus  Wholemount images heterozygote 100% (4 of 4)
Gall bladder  Wholemount images heterozygote 100% (4 of 4)
Heart  Wholemount images heterozygote 100% (4 of 4)
Hippocampus  Wholemount images heterozygote 100% (4 of 4)
Hypothalamus  Wholemount images heterozygote 100% (4 of 4)
Kidney  Wholemount images heterozygote 100% (4 of 4)
Large intestine  Wholemount images heterozygote 100% (4 of 4)
Liver  Wholemount images heterozygote 100% (4 of 4)
Lower urinary tract  Wholemount images heterozygote 100% (4 of 4)
Mammary gland  Wholemount images heterozygote 50% (2 of 4)
Olfactory lobe  Wholemount images heterozygote 100% (4 of 4)
Oral epithelium  Wholemount images heterozygote 50% (2 of 4)
Ovary  Wholemount images heterozygote 50% (2 of 4)
Oviduct  Wholemount images heterozygote 50% (2 of 4)
Pancreas  Wholemount images heterozygote 100% (4 of 4)
Parathyroid gland  Wholemount images heterozygote 100% (4 of 4)
Peripheral nervous system  Wholemount images heterozygote 100% (4 of 4)
Peyer's patch  Wholemount images heterozygote 100% (4 of 4)
Pituitary gland  Wholemount images heterozygote 50% (2 of 4)
Prostate gland  Wholemount images heterozygote 50% (2 of 4)
Skeletal muscle  Wholemount images heterozygote 100% (4 of 4)
Skin  Wholemount images heterozygote 100% (4 of 4)
Small intestine  Wholemount images heterozygote 100% (4 of 4)
Spinal cord  Wholemount images heterozygote 100% (4 of 4)
Spleen  Wholemount images heterozygote 75% (3 of 4)
Stomach  Wholemount images heterozygote 100% (4 of 4)
Striatum  Wholemount images heterozygote 100% (4 of 4)
Testis  Wholemount images heterozygote 50% (2 of 4)
Thymus  Wholemount images heterozygote 100% (4 of 4)
Thyroid gland  Wholemount images heterozygote 100% (4 of 4)
Trachea  Wholemount images heterozygote 100% (4 of 4)
Trigeminal V nerve  Wholemount images heterozygote 75% (3 of 4)
Uterus  Wholemount images heterozygote 50% (2 of 4)
Vas deferens  Wholemount images heterozygote 50% (2 of 4)
Vascular system  Wholemount images heterozygote 100% (4 of 4)
White adipose tissue  Wholemount images heterozygote 100% (4 of 4)
Cecum N/A heterozygote 0.0% (0 of 4)
Eye N/A heterozygote Not available
Lung N/A heterozygote 100% (4 of 4)
Lymph node N/A heterozygote 100% (4 of 4)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote 100% (3 of 3)
Axial skeleton N/A heterozygote 100% (3 of 3)
Brain N/A heterozygote 100% (3 of 3)
Central nervous system ganglion N/A heterozygote 100% (3 of 3)
Cranium N/A heterozygote 100% (3 of 3)
Dorsal root ganglion N/A heterozygote 100% (3 of 3)
Ear N/A heterozygote 100% (3 of 3)
Embryo N/A heterozygote 100% (3 of 3)
Outer ear N/A heterozygote 100% (3 of 3)
Eye N/A heterozygote 100% (3 of 3)
Femur pre-cartilage condensation N/A heterozygote 100% (3 of 3)
Footplate N/A heterozygote 100% (3 of 3)
Forearm N/A heterozygote 100% (3 of 3)
Forebrain N/A heterozygote 100% (3 of 3)
Forelimb N/A heterozygote 100% (3 of 3)
Fronto-nasal process N/A heterozygote 100% (3 of 3)
Gut N/A heterozygote 100% (3 of 3)
Handplate N/A heterozygote 100% (3 of 3)
Head mesenchyme N/A heterozygote 100% (3 of 3)
Head N/A heterozygote 100% (3 of 3)
Heart ventricle N/A heterozygote 100% (3 of 3)
Heart N/A heterozygote 100% (3 of 3)
Hindbrain N/A heterozygote 100% (3 of 3)
Hindlimb N/A heterozygote 100% (3 of 3)
Humerus pre-cartilage condensation N/A heterozygote 100% (3 of 3)
Inner ear N/A heterozygote 100% (3 of 3)
Intestine N/A heterozygote 100% (3 of 3)
Liver N/A heterozygote 100% (3 of 3)
Lower leg N/A heterozygote 100% (3 of 3)
Lung N/A heterozygote 100% (3 of 3)
Mandibular process N/A heterozygote 100% (3 of 3)
Maxillary process N/A heterozygote 100% (3 of 3)
Mesonephros of female N/A heterozygote 100% (3 of 3)
Mesonephros of male N/A heterozygote 66.67% (2 of 3)
Metanephros N/A heterozygote 100% (3 of 3)
Midbrain N/A heterozygote 100% (3 of 3)
Nasal septum N/A heterozygote 100% (3 of 3)
Nose N/A heterozygote 100% (3 of 3)
Notochord N/A heterozygote 100% (3 of 3)
Oral cavity N/A heterozygote 100% (3 of 3)
Outflow tract N/A heterozygote 100% (3 of 3)
Pancreas N/A heterozygote 100% (3 of 3)
N/A heterozygote 100% (3 of 3)
Pharynx N/A heterozygote 100% (3 of 3)
Radius-ulna pre-cartilage condensation N/A heterozygote 100% (3 of 3)
Rib pre-cartilage condensation N/A heterozygote 100% (3 of 3)
Skeleton N/A heterozygote 100% (3 of 3)
Skin N/A heterozygote 100% (3 of 3)
Spinal cord N/A heterozygote 100% (3 of 3)
Stomach N/A heterozygote 100% (3 of 3)
Tail somite N/A heterozygote 100% (3 of 3)
Tail N/A heterozygote 100% (3 of 3)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (3 of 3)
Tongue N/A heterozygote 100% (3 of 3)
Trachea N/A heterozygote 100% (3 of 3)
Trunk mesenchyme N/A heterozygote 100% (3 of 3)
Umbilical artery embryonic part N/A heterozygote 100% (3 of 3)
Umbilical vein embryonic part N/A heterozygote 100% (3 of 3)
Upper arm N/A heterozygote 100% (3 of 3)
Upper leg N/A heterozygote 100% (3 of 3)
Urinary system N/A heterozygote 100% (3 of 3)
Vibrissa N/A heterozygote 100% (3 of 3)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
uterus 0.0%
vas deferens Unavailable
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
atrium Ambiguous
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
cranium Ambiguous
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
external ear Ambiguous
eye 0.0%
femur pre-cartilage condensation Ambiguous
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
gut Ambiguous
handplate 0.0%
head 0.0%
head mesenchyme Ambiguous
heart 0.0%
heart ventricle Ambiguous
hindbrain 0.0%
hindlimb 0.0%
humerus pre-cartilage condensation Ambiguous
inner ear Ambiguous
intestine Ambiguous
liver 0.0%
lower leg Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
mesonephros of female Ambiguous
mesonephros of male Ambiguous
metanephros Ambiguous
midbrain 0.0%
nasal septum Ambiguous
nose Ambiguous
notochord Ambiguous
oral cavity 0.0%
outflow tract Ambiguous
pancreas Ambiguous
pericardium Ambiguous
pharynx Ambiguous
radius-ulna pre cartilage condensation Ambiguous
rib pre-cartilage condensation Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
stomach Ambiguous
tail 0.0%
tail somite group 0.0%
thoracic vertebral cartilage condensation Ambiguous
tongue Ambiguous
trachea Ambiguous
trunk mesenchyme Ambiguous
umbilical artery embryonic part Ambiguous
umbilical vein embryonic part Ambiguous
upper arm Ambiguous
upper leg Ambiguous
urinary system Ambiguous
vibrissa Ambiguous

Associated Images

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

Eye Morphology

VIP of left eye

14 Images

Adult LacZ

LacZ Images Wholemount

55 Images

X-ray

XRay Images Forepaw

7 Images

Eye Morphology

VIP of right eye

14 Images

Eye Morphology

VIP of right fundus

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

Eye Morphology

VIP of left fundus

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

7 Images

X-ray

XRay Images Skull Lateral Orientation

7 Images

Embryo LacZ

LacZ images wholemount

4 Images

Histopathology

Images

1 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Chd4 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 Chd4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Sifrim-Hitz-Weiss Syndrome
Short clavicles, Flat acetabular roof, Tetralogy of Fallot, Short femoral neck, Patent ductus art... OMIM:617159

The table below shows human diseases predicted to be associated to Chd4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh... OMIM:613424
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Death in... OMIM:612158
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Gne Myopathy
Hip flexor weakness, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed vacuoles, Cardi... ORPHA:602
Left Ventricular Noncompaction 1
Congestive heart failure, Patent ductus arteriosus, Palpitations, Atrial fibrillation, Noncompact... OMIM:604169
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Death in childhood, Bradycardia, Nemaline bodies, Death in infancy, Increased variability in musc... OMIM:620265
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Rimmed vacuoles, Card... OMIM:301075
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... OMIM:302045
Cardiomyopathy, Dilated, 1X
Reduced left ventricular ejection fraction, Calf muscle hypertrophy, Increased variability in mus... OMIM:611615
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Congestive heart failure, Ankle flexion contracture, Calf muscle hypertrophy, Cardiomyopathy, Sca... OMIM:608099
Myopathy, Myofibrillar, 3
Muscle fiber splitting, Distal amyotrophy, Cardiomyopathy, Muscle fiber cytoplasmatic inclusion b... OMIM:609200
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Hyp... OMIM:300696
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy, Hypertrophic cardiomyopathy OMIM:609500
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Facial palsy, EMG: myopathic abnormalities, Hypertrophic... OMIM:601419
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Death in childhood, Reduced left ventricular ejection fraction, Hypertr... OMIM:614096
Congenital Myopathy 5 With Cardiomyopathy
Minicore myopathy, Congestive heart failure, Weakness of facial musculature, Calf muscle hypertro... OMIM:611705
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Congestive heart failure, Abnormal Z disk morphology... OMIM:618654
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Scapular winging, Cardiomyopathy, Increased variability in muscle fiber diame... OMIM:612999
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Muscular dystrophy, Proximal muscle weakness in upper limbs, Wolff-Parkinson-White syndrome, Dist... OMIM:619566
Alpha-B Crystallin-Related Late-Onset Myopathy
Accumulation of muscle fiber desmin, Muscle fiber inclusion bodies, Facial diplegia, Cardiomyopat... ORPHA:399058
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, Cardiomyopathy, EMG: myopathic abnormalities, Increased variability in muscle... OMIM:608807
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Fatty replacement of ventricular myocardial tissue, Wrist flexion contracture, Nemaline bodies, L... OMIM:620386
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio... OMIM:619897
His Bundle Tachycardia
Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, Tibialis anterior muscle atrophy, Rimmed vacuoles, Cardiomyopathy, EMG: myopa... OMIM:600334
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Flexion contracture, Dilated car... OMIM:300718
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Muscle fiber inclusion bodies, Muscle fiber polyglucosan inclusion bodi... OMIM:616199
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Hypertrophic card... OMIM:617228
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Ventricular septal defect, Hy... OMIM:616276
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Lower limb amyotrophy, Calf muscle hypertrophy, Cardiomyopathy, Wrist flexion contracture, Upper ... ORPHA:206549
Muscle Filaminopathy
Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Right ... ORPHA:171445
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Limb-gir... OMIM:612937
Myopathy, Distal, 1
Left atrial enlargement, Distal lower limb muscle weakness, Ragged-red muscle fibers, Tibialis an... OMIM:160500
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent a... OMIM:614022
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Rimmed vacuoles, Facial palsy, Scapular winging, EMG... OMIM:617158
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Hypertrophic cardiomyopathy, Death in infancy, Flexion contracture, Dilated cardiomy... OMIM:618815
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Distal amyotrophy,... OMIM:618655
Chronic Atrial And Intestinal Dysrhythmia
Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, P... OMIM:616201
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Frontalis muscle weakness, Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Dil... OMIM:300580
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Bradycardia, Atrial fibrillation, Increased variability in muscle fiber diame... OMIM:614302
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal lower limb amyotrophy, Spinal muscular atrophy, Proxim... OMIM:158600
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Congestive heart failure, Fourth heart sound, Muscle fiber hyaline bodies, Type 1 muscle fiber pr... OMIM:255160
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ... OMIM:618782
Adult-Onset Nemaline Myopathy
Type 1 muscle fiber predominance, Upper limb muscle weakness, Nemaline bodies, EMG: myopathic abn... ORPHA:171442
Inclusion Body Myositis
Inflammatory myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Abnorm... ORPHA:611
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Ventricular hypertrophy, Bradycardia, Left ventricular hypertrophy OMIM:619048
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Hypertrophic cardiomyopathy, Fl... OMIM:252011
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:617222
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Calf m... ORPHA:178464
Distal Myotilinopathy
Distal amyotrophy, Cardiomyopathy, EMG: myopathic abnormalities, Abnormal muscle fiber myotilin, ... ORPHA:98911
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Calf muscle hypertrophy, Cardiomyopathy, Triceps weakness, Limb-girdle muscle... ORPHA:86812
Distal Nebulin Myopathy
Ankle flexion contracture, Cardiomyopathy, EMG: myopathic abnormalities, Nemaline bodies, Weaknes... ORPHA:399103
Myopathy, Distal, Tateyama Type
Calf muscle hypertrophy, Hand muscle weakness, Increased variability in muscle fiber diameter, Ce... OMIM:614321
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Pelvic girdle muscle weakness, Calf muscle pseudohypertrophy, Sc... OMIM:608358
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Distal lower limb muscle weakness, Thenar muscle atrophy, Fiber type grouping, Interosseus muscle... OMIM:619903
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Nonaka Myopathy
Distal lower limb muscle weakness, Deposits immunoreactive to beta-amyloid protein, Distal amyotr... OMIM:605820
Dpm3-Cdg
Muscular dystrophy, Calf muscle hypertrophy, Rimmed vacuoles, Dilated cardiomyopathy, Pelvic gird... ORPHA:263494
Spinal Muscular Atrophy, Type I
Death in childhood, Spinal muscular atrophy, Proximal amyotrophy, Atrial septal defect, Ventricul... OMIM:253300
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl... ORPHA:488650
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Calf muscle hypertrophy, Muscle fiber necrosis, Increased variability in muscle fiber diameter, F... OMIM:618848
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Limb-girdle muscle weakness, Peroneal muscle atrophy, Limb-girdle muscular dystrophy, Elbow flexi... OMIM:181350
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left atrial enlargement, Restrictive cardiomyopathy, Facial palsy, Hypertrophic cardiomyopathy, R... OMIM:619424
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... OMIM:601214
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Patent foramen oval... ORPHA:60041
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Tr... OMIM:616501
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Ragged-red muscle fibers, Cardiomyopathy, EMG: myopathic abnormalities, Limb muscle ... OMIM:609286
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Left ventricular systolic dysfunction, Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Sc... ORPHA:353
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Cardiomyopathy OMIM:613752
Myopathy, Myofibrillar, 4
Muscle fiber splitting, Autophagic vacuoles, Cardiomyopathy, EMG: myopathic abnormalities, Myofib... OMIM:609452
Mitochondrial Complex I Deficiency, Nuclear Type 13
Death in infancy, Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia OMIM:618235
Myopathy, Myofibrillar, 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Hypertrophic cardiomyop... OMIM:608810
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Hip flexor weakness, Facial hypotonia, Autophagic vacuoles, EMG: myopathic abnormalities, Increas... ORPHA:266
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,... OMIM:253700
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Foot dorsiflexor weakne... OMIM:181400
Myopathy, Distal, 5
Muscle fiber splitting, Distal lower limb muscle weakness, Distal amyotrophy, Rimmed vacuoles, We... OMIM:617030
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy OMIM:614654
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Reduced muscle fiber merosin, Calf muscle hypertrophy, Reduced muscle fiber a... ORPHA:34515
Nemaline Myopathy 9
Ventricular septal defect, Nemaline bodies, Arthrogryposis multiplex congenita OMIM:615731
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Congenital Myopathy 24
Facial palsy, Cardiomyopathy, Nemaline bodies, Scapular winging, First degree atrioventricular bl... OMIM:617336
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal upper limb amyotrophy, Muscular dystrophy, Proximal muscle weakness in upper limbs, Dist... OMIM:601954
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Congestive heart failure, Calf muscle hypertrophy, Elbow flexion contracture, Abnormality of the ... ORPHA:206546
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Facial diplegia, Cardiomyopathy, Scapular winging, Nemaline bodi... ORPHA:171439
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Ventricular septal defect, Myopathy OMIM:616816
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Lower limb amyotrophy... OMIM:620402
Timothy Syndrome
Prolonged QT interval, Bradycardia, Patent foramen ovale, Pulmonary arterial hypertension, Cutane... OMIM:601005
Muscular Dystrophy, Becker Type
Muscular dystrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Arrhythmia, Abnormal EKG OMIM:300376
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Calf muscle hypertrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopa... OMIM:609308
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Death in middle age, Left ventricular outflow tract obstruction, Right ... OMIM:613251
Mitochondrial Myopathy With Diabetes
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakness of orbicularis ocu... OMIM:500002
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Pulmonic stenosis, Hand polydactyly, Patent ductus arteriosus, Atrial septal defect,... OMIM:249670
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Flexion limitatio... OMIM:609115
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Brachydactyly, Abnormal cardiac septum morpho... ORPHA:1937
Carnitine-Acylcarnitine Translocase Deficiency
Bradycardia, Ventricular hypertrophy, Cardiac arrest, Cardiomyopathy, Premature ventricular contr... OMIM:212138
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Calf muscle hypertrophy, Right bundle branch block, Scapul... ORPHA:206559
Spinal Muscular Atrophy, Infantile, James Type
Distal amyotrophy, Increased variability in muscle fiber diameter, Hip contracture, Type 1 muscle... OMIM:619042
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Muscle fiber necrosis, Limb muscle weakness, Limb-girdle muscle weakness, Cen... OMIM:616812
Congenital Myopathy 4A, Autosomal Dominant
Facial palsy, Congenital hip dislocation, Type 1 fibers relatively smaller than type 2 fibers, Ce... OMIM:255310
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Rimmed vacuoles, Scapular winging, Increased variability... OMIM:619733
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear... ORPHA:216694
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Lower limb amyotrophy, Syncope, Myocard... OMIM:300257
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Limb muscle weakness, Cardiomyopathy, Nemaline bodies, Global systolic dysfunction OMIM:606842
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Ragged-red muscle fibers, Facial palsy, Proximal muscle weakness in lower limbs OMIM:616209
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Flexion contracture, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmi... OMIM:300717
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular septal hypertrophy, Palpitations, ST segment elevation, Ventricular hypertrophy, Card... ORPHA:263297
Spinal Muscular Atrophy, Type Iv
Calf muscle hypertrophy, Rimmed vacuoles, Spinal muscular atrophy, Muscle fiber necrosis, Increas... OMIM:271150
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Hypertension,... OMIM:540000
Glycogen Storage Disease Xv
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Scapular win... OMIM:613507
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, We... OMIM:618940
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Cardiomyopathy, Increased variability in muscle fiber diameter, Pelvic g... ORPHA:119
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Patent foramen ovale, Tricuspid regurgitation, Neonatal de... OMIM:619167
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis,... OMIM:615779
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Ankle flexion contracture, Central core regions in muscle fibers, Nemaline bodies, Congenital hip... OMIM:117000
Distal Myopathy, Welander Type
Distal upper limb amyotrophy, Rimmed vacuoles, EMG: myopathic abnormalities, Intrinsic hand muscl... ORPHA:603
Myopathy, Sarcoplasmic Body
Sarcoplasmic bodies, Weakness of the intrinsic hand muscles, Increased variability in muscle fibe... OMIM:620286
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Rimmed vacuoles, Increased variability in muscle fiber diameter, C... OMIM:615424
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy OMIM:609524
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Cap Myopathy
Lower limb amyotrophy, Sinus tachycardia, Facial palsy, Reduced systolic function, Increased vari... ORPHA:171881
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Bethlem Myopathy 2
Scapular winging, Increased variability in muscle fiber diameter, Flexion contracture, Myopathy, ... OMIM:616471
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Brachydactyly, Arrhythmia, Dil... ORPHA:168796
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Weakness of facial mu... ORPHA:457050
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopathy, Limb-girdle muscle w... OMIM:615352
Glycogen Storage Disease Iv
Bradycardia, Cardiomyopathy, Portal hypertension, Flexion contracture, Skeletal muscle atrophy, A... OMIM:232500
Tibial Muscular Dystrophy
Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Ce... ORPHA:609
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ... OMIM:608758
Classic Multiminicore Myopathy
Congestive heart failure, Muscular dystrophy, Weakness of facial musculature, Generalized amyotro... ORPHA:324604
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Ankle flexion contracture, Calf muscle hypertrophy, Rimmed vacuoles, Incr... OMIM:617760
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular... OMIM:608751
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Reduced left ventricular endsysto... OMIM:612124
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Scapular winging, Shoulder girdle muscle weakness, Weakness of facial mu... OMIM:619477
Atrial Standstill 2
Bradycardia, Atrial arrhythmia, Cardiomyopathy, Dilatation of the ventricular cavity, Absent P wa... OMIM:615745
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular dystrophy, Calf muscle pseudohypertrophy, Facial palsy, EMG: myopathic abnormalities, In... OMIM:254110
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Hammertoe, Increased variability in muscle fiber diameter, Increased endomysial connective tissue... OMIM:620542
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Congenital Myopathy 14
Knee flexion contracture, Elbow flexion contracture, Death in infancy, Increased variability in m... OMIM:618414
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Ankle flexion contracture, Premature ventricular contraction, Increased varia... OMIM:617072
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect, Clinodactyly of the 5th finger, Sandal gap ORPHA:2515
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia OMIM:614702
Laing Early-Onset Distal Myopathy
Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Abnormal mitochondria in musc... ORPHA:59135
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Congestive heart failure, Patent foramen ovale, Cardiomyopathy, Spinal muscular atrophy, Increase... OMIM:616866
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Myopathy, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotensio... OMIM:261740
Oculopharyngeal Muscular Dystrophy 1
Ragged-red muscle fibers, Facial palsy, Limb muscle weakness OMIM:164300
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upper limb amy... OMIM:620068
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A... OMIM:618719
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy... OMIM:614954
Tubular Aggregate Myopathy
Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Increased variability in muscle fi... ORPHA:2593
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Camptodactyly, Arthrogryposis multiplex congenita, Pulmonic stenosis, Overlapping toe, Atrial sep... OMIM:614262
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial se... OMIM:617912
Congenital Myopathy 22A, Classic
Bradycardia, Ragged-red muscle fibers, Scapular winging, Congenital finger flexion contractures, ... OMIM:620351
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... OMIM:310300
Fixed Subaortic Stenosis
Pulmonic stenosis, Abnormal heart morphology, Diastolic heart murmur, Cardiomegaly, Left ventricu... ORPHA:3092
Heart Defects-Limb Shortening Syndrome
Abnormal metaphysis morphology, Abnormal tricuspid valve morphology, Death in infancy, Abnormal m... ORPHA:1354
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr... ORPHA:542306
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale, Spinal muscular atrophy, Increased variability in muscle fiber diameter, Sk... OMIM:616867
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Muscle fiber splitting, Facial palsy, Limb muscle weakness, Increased variability in muscle fiber... OMIM:616313
Congenital Myopathy 15
Camptodactyly, Tricuspid regurgitation, Increased variability in muscle fiber diameter, Weakness ... OMIM:620161
Central Core Disease
Type 1 muscle fiber predominance, Pelvic girdle muscle weakness, Central core regions in muscle f... ORPHA:597
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Skeletal muscle fibrosis, Myofibrillar myopathy, Increased variability in muscle... ORPHA:34516
Wild Type Attr Amyloidosis
Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v... ORPHA:330001
Rhabdomyolysis, Susceptibility To, 1
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance, Rhabdomyolysis,... OMIM:620235
Sandhoff Disease, Adult Form
Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs ORPHA:309169
Immune-Mediated Necrotizing Myopathy
Myocarditis, Congestive heart failure, Myositis, Scapular winging, EMG: myopathic abnormalities, ... ORPHA:206569
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Scapular winging, Increased variability in muscle fiber diameter, Central... OMIM:618129
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Hip contracture, Weakness of facial musculature, Dila... OMIM:615959
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Upper limb muscle weakness, Fiber type grouping, Skeletal muscle atrophy, Lower ... OMIM:620452
Myofibrillar Myopathy 11
Type 1 muscle fiber predominance, Calf muscle hypertrophy, EMG: myopathic abnormalities, Increase... OMIM:619178
Myasthenic Syndrome, Congenital, 14
Knee flexion contracture, Ragged-red muscle fibers, Scapular winging, Muscle fiber tubular inclus... OMIM:616228
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Neonatal death, Myopathy, Hypertrophic cardiomyopathy OMIM:618237
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Congestive heart failure, Abnormal long bone morphology, Rimmed vacuoles, Cardiomyopathy, EMG: my... ORPHA:52430
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi... ORPHA:45453
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Atrial fibr... OMIM:614980
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Increased intramuscul... ORPHA:276435
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98855
Loeffler Endocarditis
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Aortic regurgitation, Pa... ORPHA:75566
Ullrich Congenital Muscular Dystrophy
Torticollis, Long toe, Elbow flexion contracture, EMG: myopathic abnormalities, Slender finger, I... ORPHA:75840
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Mitochondrial Dna Depletion Syndrome 11
Ragged-red muscle fibers, Facial palsy, Generalized amyotrophy, Proximal amyotrophy, Arrhythmia, ... OMIM:615084
Myopathy, Tubular Aggregate, 1
Weakness of the intrinsic hand muscles, Increased variability in muscle fiber diameter, Joint con... OMIM:160565
Idiopathic Congenital Hypothyroidism
Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Macroglossia, Br... ORPHA:95717
Catel-Manzke Syndrome
Clinodactyly of the 5th finger, Radial deviation of the 2nd finger, Camptodactyly of finger, Abno... ORPHA:1388
Feingold Syndrome Type 2
Short middle phalanx of finger, Short thumb, Brachydactyly, Toe syndactyly, Ventricular septal de... ORPHA:391646
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Proximal muscle weakness in upper limbs, Lower limb amyotrophy, Calf muscle hypertrophy, Type 2 m... OMIM:620375
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Ventricular septal defect, Death in infancy OMIM:614876
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Aortic regurgitation, Pulmonic stenosis, Patent duct... OMIM:607941
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... OMIM:253601
Familial Isolated Dilated Cardiomyopathy
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... ORPHA:154
Feingold Syndrome 2
2-3 toe syndactyly, Short middle phalanx of the 5th finger, 3-4 toe syndactyly, Short thumb, Shor... OMIM:614326
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy ORPHA:270
Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98853
Nemaline Myopathy 2
Muscle fiber splitting, Calf muscle pseudohypertrophy, Rimmed vacuoles, EMG: myopathic abnormalit... OMIM:256030
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Neonatal death, Hypertrophic cardiomyopathy, Death in infancy OMIM:617184
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia, Neonatal death OMIM:615524
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Distal amyotrophy, Rimmed vacuoles, Limb muscle weak... OMIM:619473
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ragged-red muscle fibers, Generalized amyotrophy, Hypertrophic cardiomyopathy OMIM:613561
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Ragged-red muscle fibers, Hypertension, Hypertrophic cardiomyopathy, Di... ORPHA:1349
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Aplasia/hypoplasia involving bones of the upper limbs, Bradycardia... ORPHA:40366
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Ragged-red muscle fibers, EMG: myopathic abnormalities, Hypertrophic cardiomyopathy, Left ventric... OMIM:615418
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular dystrophy, Rimmed vacuoles, Scapular winging, Autophagic vacuoles, EMG: myopathic abnorm... OMIM:608423
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs ORPHA:1878
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy ORPHA:238329
Proximal Spinal Muscular Atrophy
Distal lower limb muscle weakness, Weakness of facial musculature, Bradycardia, Facial diplegia, ... ORPHA:70
Myopathy, Scapulohumeroperoneal
Scapular winging, Facial palsy, Nemaline bodies, Increased variability in muscle fiber diameter, ... OMIM:616852
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, EMG: myopathic abnormalities, Nemaline bodies, Limb muscle weakness, Arthrogryposis... OMIM:161800
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Weakness of facial musculature, Elbow flexion contracture, Increased v... OMIM:619461
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Muscular dystrophy, Torticollis, Increased variability in muscle fiber diameter, Skeletal muscle ... OMIM:613204
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cardiac arrest, Hypertrophic cardiomyopathy, Death in infancy, Increased variability in muscle fi... OMIM:604377
Autosomal Recessive Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Cardiomyopathy, Scapular winging, Facial palsy, Hand muscle weakness, M... ORPHA:254886
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Congestive heart failure OMIM:616794
Congenital Myopathy 6 With Ophthalmoplegia
Muscle fiber inclusion bodies, Scapular winging, Congenital contracture, Increased variability in... OMIM:605637
Indomethacin Embryofetopathy
Atrial septal defect, Ventricular septal defect, Cardiomyopathy ORPHA:1909
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98863
Cardiomyopathy, Familial Hypertrophic, 4
Congestive heart failure, Ventricular septal hypertrophy, Muscular ventricular septal defect, Lef... OMIM:115197
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block, Abnormal cardiac septum morphology ORPHA:1479
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Muscle fiber splitting, Lower limb amyotrophy, Ragged-red muscle fibers, Rimmed vacuoles, Upper l... OMIM:616924
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death, Reduced left v... OMIM:620203
Greig Cephalopolysyndactyly Syndrome
1-3 toe syndactyly, Y-shaped metatarsals, Postaxial hand polydactyly, Abnormal muscle fiber morph... OMIM:175700
Congenital Myopathy 20
Short finger, Scapular winging, Nemaline bodies, Congenital contracture, Increased variability in... OMIM:620310
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Facial palsy, Dilated cardiomyopathy, Increased endomysial connective tissue,... OMIM:602541
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Glutamine Deficiency, Congenital
Neonatal death, Flexion contracture, Camptodactyly, Bradycardia OMIM:610015
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Generalized amyotrophy, Arrhythmia, Weakness of facial musculature, Dil... ORPHA:352447
Polymyositis
Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Vasc... ORPHA:732
Finnish Upper Limb-Onset Distal Myopathy
Amyotrophy of ankle musculature, Rimmed vacuoles, Split hand, EMG: myopathic abnormalities, Weakn... ORPHA:399086
Arthrogryposis Multiplex Congenita 6
Death in childhood, Nemaline bodies, Death in infancy, Increased variability in muscle fiber diam... OMIM:619334
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Atrial Fibrillation, Familial, 15
Left atrial enlargement, Atrial flutter, Atrial fibrillation, Supraventricular tachycardia, Sudde... OMIM:615770
Congenital Myopathy 18
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Centrally n... OMIM:620246
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov... OMIM:619371
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Muscular dystrophy, Atrial flutter, Heart block, Atrial fibrillation, S... ORPHA:300751
Congenital Myopathy 10A, Severe Variant
Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosis, Camptodactyly of finger, Incre... OMIM:614399
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Mitral regurgitation, Postaxial hand polydactyly, Abnormal cardiac sep... ORPHA:83473
Adams-Oliver Syndrome 4
Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes, Aplasia of the... OMIM:615297
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Ragged-red muscle fibers, Cardiomyopathy, EMG: myopathic abnormalities, Muscle fiber necrosis, Fa... OMIM:258450
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Atrioventricular canal defect, Triphalangeal thumb, Abnormal meta... ORPHA:392
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Tapered finger, Flexion contracture, Patent ductus arteriosus, Tachycardia, Atrial ... OMIM:613870
Muscular Dystrophy, Congenital, Lmna-Related
Paroxysmal atrial fibrillation, Proximal upper limb amyotrophy, Muscular dystrophy, Upper limb mu... OMIM:613205
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Muscle fiber splitting, Calf muscle hypertrophy, Rimmed vacuoles, Scapular winging, Myofibrillar ... OMIM:603689
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Bradycardia, Hypertrophic cardiomyopathy, Pericardial effusion, Ven... OMIM:618775
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Abnormali... ORPHA:860
Grange Syndrome
Aortic regurgitation, Hypertension, Short palm, Syndactyly, Patent ductus arteriosus, Ventricular... ORPHA:79094
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... OMIM:611528
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Muscle fiber splitting, Muscular dystrophy, Rimmed vacuoles, Scapular winging, Centrally nucleate... OMIM:601846
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Hammertoe, Distal amyotrophy, Upper limb muscle weakness, Limb muscle weakness, Fiber type groupi... OMIM:608340
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:613873
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Clinodactyly of the 5th finger, Joint contracture of the 5th finger, Bradycardia, Long fingers, A... OMIM:614407
Congenital Gerbode Defect
Congestive heart failure, Perimembranous ventricular septal defect, Abnormal tricuspid valve leaf... ORPHA:99095
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Distal amyotrophy, Rimmed vacuoles, Scapular winging, Facial palsy, Abnormal pelvic girdle bone m... OMIM:167320
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities OMIM:609283
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Ragged-red muscle fibers, Scapular winging, Skeletal muscle atrophy, Weakness of facial musculature OMIM:617069
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Third degree atrioventricular block, Skeletal muscle atrophy ORPHA:480
Zebra Body Myopathy
Muscle fiber splitting, Torticollis, Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnorma... ORPHA:97240
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Calf muscle... OMIM:618138
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Distal amyotrophy, Deposits immunoreactive to beta-amyloid protein, Lower lim... OMIM:254130
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal ... OMIM:617066
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopathy OMIM:618992
Coronary Arterial Fistula
Aortic valve stenosis, Abnormal heart morphology, Cardiomegaly, Bicuspid aortic valve, Right vent... ORPHA:2041
Fetal Minoxidil Syndrome
Ventricular septal defect, Clinodactyly of the 5th finger ORPHA:1918
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation, Secundum atrial septal defect, Tetralogy of Fallot, L... OMIM:108900
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy,... ORPHA:2348
Myopathy, Distal, 3
Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles, Split hand, EMG: myopathic abnormalities,... OMIM:610099
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Death in infancy, Joint contracture, Limb hypertonia, Bradycardia OMIM:614498
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy,... ORPHA:79083
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Sinus bradycardia OMIM:126320
Peripartum Cardiomyopathy
Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro... ORPHA:563
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
8P23.1 Duplication Syndrome
Pulmonic stenosis, Toe syndactyly, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy OMIM:545000
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Flexi... OMIM:618484
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
Congenital Myopathy 23
Facial diplegia, Scapular winging, Nemaline bodies, Limb muscle weakness, Skeletal muscle atrophy... OMIM:609285
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Cardiac arrest, Paroxysmal atrial tachycardia, Atrial septal defect, Ve... ORPHA:49827
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnormalities, Increased variability in musc... OMIM:619790
Myopathy, Centronuclear, 1
Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle... OMIM:160150
Stuve-Wiedemann Syndrome 2
Stillbirth, Congestive heart failure, Short long bone, Death in adolescence, Pulmonary arterial h... OMIM:619751
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Multiminicore Myopathy
Muscular dystrophy, Proximal muscle weakness in upper limbs, Minicore myopathy, Abnormal muscle f... ORPHA:598
Aapoaiv Amyloidosis
Atrial flutter, Left bundle branch block, Cardiac amyloidosis, Left ventricular outflow tract obs... ORPHA:439232
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Third degree atrioventricular block, Bradycardia OMIM:619814
Lipoyltransferase 1 Deficiency
Death in infancy, Pulmonary arterial hypertension, Bradycardia OMIM:616299
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscle fiber splitting, Muscular dystrophy, Rimmed vacuoles, Facial palsy, Flexion contracture, P... OMIM:603511
Autosomal Recessive Centronuclear Myopathy
Abnormal heart valve morphology, Facial diplegia, Scapular winging, Facial palsy, Generalized amy... ORPHA:169186
Lipodystrophy, Congenital Generalized, Type 4
Muscular dystrophy, Prolonged QT interval, Bradycardia, Atrial fibrillation, Skeletal muscle hype... OMIM:613327
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Absent ossification of capital femoral epiphysis, Bradycardia, A... ORPHA:226313
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Skeletal muscle atrophy, Arthrogryposis multip... OMIM:607598
Mmep Syndrome
Split foot, Ventricular septal defect, Triphalangeal thumb ORPHA:3434
Weill-Marchesani Syndrome
Pulmonic stenosis, Aortic valve stenosis, Short thumb, Brachydactyly, Ventricular septal defect, ... ORPHA:3449
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Automatic atrial tachycardia, Atrial fibrillation, Supr... ORPHA:99105
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets OMIM:619065
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Clinodactyly of the 5th finger, Patent ductus arteriosus OMIM:619717
Desbuquois Syndrome
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal femoral neck/head morpho... ORPHA:1425
Fanconi Anemia, Complementation Group O
Hypoplasia of the radius, Proximal placement of thumb, Miscarriage, Death in infancy, Abnormal he... OMIM:613390
King-Denborough Syndrome
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Weak... OMIM:619542
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers, Fatty replacement o... OMIM:618823
Cardiomyopathy, Dilated, 1Ii
Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,... OMIM:615184
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Rhabdomyolysis, Skeletal muscle atrophy OMIM:617070
Cardiomyopathy, Dilated, 2F
Congestive heart failure, Ventricular fibrillation, Ventricular tachycardia, Severely reduced lef... OMIM:619747
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Increased variability i... OMIM:613157
Pseudo-Torch Syndrome 2
Patent ductus arteriosus, Secundum atrial septal defect, Cerebral hemorrhage, Bradycardia OMIM:617397
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Death in childhood, Abnormality of skeletal muscle fiber size, Nemaline bodies, Death in infancy,... OMIM:620278
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Hypertension, Retinal hemorrhage, Flexion contracture, Tachycardia, Ventricular sept... OMIM:614653
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance OMIM:614807
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Congenital Disorder Of Glycosylation, Type Im
Death in infancy, Dilated cardiomyopathy, Bradycardia OMIM:610768
Congenital Multicore Myopathy With External Ophthalmoplegia
Internally nucleated skeletal muscle fibers, Muscular dystrophy, Tibialis anterior muscle atrophy... ORPHA:98905
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Limb muscle weakness, Increased variability in muscle fi... OMIM:613954
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Death in childhood OMIM:613759
Cardiac Diverticulum
Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Arrhythmia, ... ORPHA:1686
Congenital Myopathy 10B, Mild Variant
Increased endomysial connective tissue, Generalized limb muscle atrophy, Type 1 and type 2 muscle... OMIM:620249
Congenital Myopathy 1B, Autosomal Recessive
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, Nemaline bodie... OMIM:255320
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Myopathic Ehlers-Danlos Syndrome
Ankle flexion contracture, Weakness of facial musculature, Foot joint contracture, Congenital mus... ORPHA:536516
Congenital Myopathy 3 With Rigid Spine
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, Increased vari... OMIM:602771
Familial Thyroid Dyshormonogenesis
Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Macroglossia, Br... ORPHA:95716
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Type 2 muscle fiber predominance, Elbow flexion contracture, Z-band... OMIM:617114
Myasthenic Syndrome, Congenital, 12
Ragged-red muscle fibers, Proximal amyotrophy, Facial palsy OMIM:610542
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscle fiber splitting, Muscular dystrophy, Increased variability in muscle fiber diameter, Mothe... OMIM:226670
Muscular Dystrophy, Limb-Girdle, Type 1H
Muscular dystrophy, Calf muscle hypertrophy, Centrally nucleated skeletal muscle fibers, Shoulder... OMIM:613530
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
X-Linked Centronuclear Myopathy
Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated skeletal muscle fibers, ... ORPHA:596
Noonan Syndrome 12
Proximal placement of thumb, Ventricular septal defect, Tetralogy of Fallot, Supravalvular aortic... OMIM:618624
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Low-output congestive heart failure, Rimmed vacuoles, Cardiomyopathy, Coronary a... ORPHA:565612
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Cardiomyopathy, Arrhythmia, Atrial septal defect, Ventricular septal defect OMIM:249270
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Ragged-red muscle fibers, Facial palsy, Hypertrophied muscle f... OMIM:500009
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Glycogen Storage Disease Due To Aldolase A Deficiency
EMG: myopathic abnormalities, Skeletal myopathy, Muscle fiber atrophy, Exercise-induced rhabdomyo... ORPHA:57
Necrotizing Enterocolitis
Shock, Abnormal heart morphology, Hypotension, Bradycardia ORPHA:391673
Brachydactyly, Type B1
Aplasia/Hypoplasia of the distal phalanges of the hand, Wide anterior fontanel, Short long bone, ... OMIM:113000
Intellectual Developmental Disorder, Autosomal Recessive 79
Clinodactyly of the 5th finger, Short hallux, Slender finger, Long fingers, Ventricular septal de... OMIM:620393
Roifman Syndrome
Clinodactyly of the 5th finger, Noncompaction cardiomyopathy, Short metacarpal, Hip contracture, ... OMIM:616651
Overlap Myositis
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Subluxation of the sm... ORPHA:206572
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm, Secundum atrial septal defect, Ventricular septal defect, Hypo... OMIM:618901
14Q11.2 Microdeletion Syndrome