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Gene: Acadm MGI:87867

Gene Summary

Name:

acyl-Coenzyme A dehydrogenase, medium chain

Synonyms:

MCAD

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
short tibia	Acadm^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.46×10^-06
abnormal vibrissa morphology	Acadm^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.72×10^-05
increased grip strength	Acadm^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.21×10^-05

Download data as: TSV XLS

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lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	100% (2 of 2)
Aorta	N/A	heterozygote	100% (2 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	50% (1 of 2)
Brown adipose tissue	N/A	heterozygote	100% (2 of 2)
Cartilage tissue	N/A	heterozygote	100% (2 of 2)
Cerebellum	N/A	heterozygote	100% (2 of 2)
Cerebral cortex	N/A	heterozygote	50% (1 of 2)
Esophagus	N/A	heterozygote	100% (2 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	100% (2 of 2)
Heart	N/A	heterozygote	100% (2 of 2)
Hippocampus	N/A	heterozygote	100% (2 of 2)
Hypothalamus	N/A	heterozygote	50% (1 of 2)
Kidney	N/A	heterozygote	100% (2 of 2)
Large intestine	N/A	heterozygote	50% (1 of 2)
Liver	N/A	heterozygote	100% (2 of 2)
Lower urinary tract	N/A	heterozygote	100% (2 of 2)
Lung	N/A	heterozygote	100% (2 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	50% (1 of 2)
Olfactory lobe	N/A	heterozygote	100% (2 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	50% (1 of 2)
Oviduct	N/A	heterozygote	50% (1 of 2)
Pancreas	N/A	heterozygote	50% (1 of 2)
Parathyroid gland	N/A	heterozygote	100% (2 of 2)
Peripheral nervous system	N/A	heterozygote	100% (2 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	100% (2 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	100% (2 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	100% (2 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	100% (2 of 2)
Trachea	N/A	heterozygote	100% (2 of 2)
Uterus	N/A	heterozygote	50% (1 of 2)
Vascular system	N/A	heterozygote	100% (2 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

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%
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%
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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Adult LacZ

LacZ Images Wholemount

21 Images

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Human diseases caused by Acadm 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.

Human diseases associated with Acadm (2 diseases)
Human diseases predicted to be associated with Acadm (766 diseases)

The table below shows human diseases associated to Acadm by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Medium Chain Acyl-Coa Dehydrogenase Deficiency		Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Decreased liver...	ORPHA:42
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of		Hyperglycinuria, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic s...	OMIM:201450

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

Disease	Matching phenotypes	Source
Syndactyly Type 4	Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot...	ORPHA:93405
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S...	OMIM:201250
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly	OMIM:246570
Combined Oxidative Phosphorylation Deficiency 16	Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Eleva...	OMIM:615395
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u...	OMIM:118651
Osebold-Remondini Syndrome	Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos...	OMIM:112910
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Acheiropody	Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas...	OMIM:200500
Langer Mesomelic Dysplasia	Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul...	OMIM:249700
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten...	OMIM:605274
His Bundle Tachycardia	Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy	ORPHA:3283
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Cardiomyopathy	OMIM:609016
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Cardiomyocyte mitochondrial proliferation, Hypertrophic cardiomyopathy	OMIM:616500
Glycogen Storage Disease 0, Muscle	Decreased muscle glycogen content, Cardiomyopathy, Stroke, Left atrial enlargement, Left ventricu...	OMIM:611556
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp...	OMIM:127300
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu...	ORPHA:1972
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Proximal muscle weakness in lower limbs, Finger flexor weakness, Hip flexor weakness, Cardiomyopa...	ORPHA:63273
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n...	OMIM:613424
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ...	ORPHA:240
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Gne Myopathy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ...	ORPHA:602
Laurin-Sandrow Syndrome	Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,...	OMIM:135750
Fibular Hemimelia	Toe syndactyly, Structural foot deformity, Finger syndactyly, Short tibia, Limited knee flexion/e...	ORPHA:93323
Left Ventricular Noncompaction 2	Left ventricular noncompaction cardiomyopathy	OMIM:609470
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o...	OMIM:619217
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th...	OMIM:612447
Cardiomyopathy, Familial Hypertrophic, 15	Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic...	OMIM:613255
Cardiomyopathy, Familial Hypertrophic, 28	Apical hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Systolic anterior mot...	OMIM:619402
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia	OMIM:261650
Hemochromatosis, Type 4	Cardiomyopathy, Glucose intolerance, Hepatic steatosis, Arrhythmia, Cirrhosis, Hepatomegaly, Diab...	OMIM:606069
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hypoglycemia, Congestive heart failure, Elevated circulating aspartate a...	OMIM:619048
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia...	ORPHA:988
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Hypoketotic hypoglycemia, Increased hepatic glycogen content, Nonketotic hypoglycemia, Hypoglycem...	ORPHA:293964
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Leg muscle stiffness, Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhyth...	ORPHA:320360
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Dilated cardiomyo...	OMIM:608099
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ...	OMIM:612158
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Coronary artery atherosclerosis, Pancrea...	ORPHA:79084
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Myopathy, Hepatic steatosis, Cardiomyopathy	ORPHA:26792
Myopathy, Distal, 4	Skeletal muscle atrophy, Cardiomyopathy, Thenar muscle weakness, Distal lower limb amyotrophy, Di...	OMIM:614065
Myopathy, Distal, 7, Adult-Onset, X-Linked	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme...	OMIM:301075
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Premature coronary artery atherosclerosis, Congestive heart failure, Type II ...	OMIM:615703
Spondyloepimetaphyseal Dysplasia, Missouri Type	Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened...	ORPHA:93356
Cardiomyopathy, Dilated, 1M	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End...	OMIM:607482
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Foot dorsiflexor weakness, Elevated circulating hepatic transaminase concentration, Hepatic steat...	OMIM:618400
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy, Hepatic steatosis, Cardiomyopathy	OMIM:615119
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Cardiomyopathy, Dilated, 2A	Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, I...	OMIM:611880
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia...	OMIM:119100
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno...	ORPHA:3329
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotra...	OMIM:619386
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, Hepatic necrosis, ...	OMIM:231530
Combined Oxidative Phosphorylation Deficiency 44	Hypertrophic cardiomyopathy	OMIM:618855
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa...	OMIM:601493
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Leg muscle stiffness, Cardiomyopathy, Heart block, Foot ...	ORPHA:98912
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Hypoketotic hypo...	OMIM:600649
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Elevated circulating aspar...	OMIM:212140
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Distal Nebulin Myopathy	Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Cardiomyopathy, Foot ...	ORPHA:399103
Cardiac Lipidosis, Familial	Cardiomyopathy, Congestive heart failure	OMIM:212080
Myopathy, Autophagic Vacuolar, Infantile-Onset	Hypertrophic cardiomyopathy, Autophagic vacuoles, Myopathy	OMIM:609500
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Tibial Muscular Dystrophy, Tardive	Rimmed vacuoles, Muscular dystrophy, Cardiomyopathy, Tibialis anterior muscle atrophy, Tibialis m...	OMIM:600334
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma...	OMIM:228900
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Prominent veins on trunk, Congestive heart failure, Hypertrophic cardiomyopat...	ORPHA:79083
Propionic Acidemia	Hepatomegaly, Hypoglycemia, Arrhythmia, Cardiomyopathy	ORPHA:35
Lipodystrophy, Familial Partial, Type 4	Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Stroke, Hypertension,...	OMIM:613877
Glycogen Storage Disease Iii	Hepatic fibrosis, Ventricular hypertrophy, Elevated circulating hepatic transaminase concentratio...	OMIM:232400
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon...	OMIM:615396
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
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti...	OMIM:613642
Myopathy, Myofibrillar, 3	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista...	OMIM:609200
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe...	OMIM:619897
Acrofacial Dysostosis Syndrome Of Rodriguez	Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular...	OMIM:201170
Muscle Filaminopathy	Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o...	ORPHA:171445
Tibial Hemimelia	Absent tibia	OMIM:275220
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata...	ORPHA:85170
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hypotension, Elevated circulating hepatic transaminase concentration, At...	OMIM:212138
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Cardiomyopathy, Familial Restrictive, 1	Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac...	OMIM:115210
Cardiomyopathy, Dilated, 1B	Dilated cardiomyopathy, Congestive heart failure, Ventricular arrhythmia, Vascular dilatation, Im...	OMIM:600884
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:615373
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Mitochondrial Complex I Deficiency, Nuclear Type 11	Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Wolff-Parkinson-White syndrome, ...	OMIM:618234
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Abnormal oral glucose tolerance, ...	ORPHA:276580
Alpha-B Crystallin-Related Late-Onset Myopathy	Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu...	ORPHA:399058
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Systolic anterior motion of the mitral valve, Asymmetric septal hypertrophy, Cardiomyocyte hypert...	OMIM:620236
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Muscular dystrophy, Left anteri...	OMIM:181350
Cardiomyopathy, Dilated, 1L	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc...	OMIM:606685
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ...	OMIM:113310
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular...	OMIM:619566
Diarrhea 13	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Recurrent hypoglycemia	OMIM:620357
Dpm3-Cdg	Rimmed vacuoles, Muscular dystrophy, Elevated circulating hepatic transaminase concentration, Dil...	ORPHA:263494
Atrial Standstill	Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart...	ORPHA:1344
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Hepatic failure, Elevated circulating hepatic transaminase concentration...	ORPHA:228305
Cardiomyopathy, Dilated, 1Ff	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr...	OMIM:613286
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Card...	OMIM:608807
Muscular Dystrophy, Cardiac Type	Muscular dystrophy, Carnosinuria, Cardiomyopathy, Abnormal EKG	OMIM:309930
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypog...	ORPHA:369
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:613252
Cardiomyopathy, Dilated, 1Kk	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati...	OMIM:615248
Distal Myotilinopathy	Distal amyotrophy, Cardiomyopathy, Multiple joint contractures, Abnormal muscle fiber myotilin, E...	ORPHA:98911
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w...	ORPHA:206549
Familial Partial Lipodystrophy, Dunnigan Type	Insulin resistance, Congestive heart failure, Hypertrophic cardiomyopathy, Atherosclerosis, Splen...	ORPHA:2348
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car...	OMIM:604765
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:612999
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter, Cardiomyopathy, Elevated circulating aspartate am...	OMIM:613752
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Cardiomyocyte hypertr...	ORPHA:263297
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Hypoglycemia, Elevated circulating creatinine concentration, Hepatic steatosis, ...	OMIM:617872
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hypertroph...	ORPHA:276575
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,...	OMIM:611126
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Hypertrophic...	ORPHA:276556
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Calf muscle hypertrophy, Hypertension, Ins...	ORPHA:280356
Cardiomyopathy, Dilated, 1Jj	Reduced left ventricular ejection fraction, Dilated cardiomyopathy	OMIM:615235
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han...	OMIM:258860
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Wolff-P...	OMIM:613690
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula...	OMIM:302045
Myopathy, X-Linked, With Postural Muscle Atrophy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertr...	OMIM:300696
Bardet-Biedl Syndrome 19	Hypoplastic left heart, Partial atrioventricular canal defect, Hepatic steatosis, Ventricular sep...	OMIM:615996
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy...	OMIM:608751
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h...	OMIM:613172
Eiken Syndrome	Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ...	ORPHA:79106
Muscular Dystrophy, Becker Type	Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Arrhythmia, Calf muscle pseudohypertrophy	OMIM:300376
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminotransf...	OMIM:618805
Lipodystrophy, Familial Partial, Type 6	Insulin resistance, Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Hepa...	OMIM:615980
Cardiomyopathy, Dilated, 1X	Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Reduced left ventricular ...	OMIM:611615
Atrial Standstill 1	Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Premature atrial contra...	OMIM:108770
Acquired Partial Lipodystrophy	Insulin resistance, Hepatic steatosis, Myopathy	ORPHA:79087
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615158
Hemochromatosis, Type 2B	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Conges...	OMIM:613313
Endocardial Fibroelastosis	Endocardial fibroelastosis, Restrictive cardiomyopathy, Hypoglycemia, Congestive heart failure	ORPHA:2022
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl...	OMIM:614480
Cardiomyopathy Associated With Myopathy And Sudden Death	Asymmetric septal hypertrophy, Myopathy	OMIM:212130
Cardiomyopathy, Familial Hypertrophic, 25	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome	OMIM:607487
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
Cardiomyopathy, Dilated, 1U	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:613694
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Reduced left ventricul...	OMIM:201475
Cardiomyopathy, Dilated, 2I	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac...	OMIM:620462
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear...	OMIM:605362
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,...	OMIM:619424
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Fatty replacement of skeletal muscle, Myopathy, Supraventricular tachycardia, Cardiomyopathy	OMIM:255100
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Muscular dystrophy, Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystr...	OMIM:609308
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ...	OMIM:612937
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm...	ORPHA:3344
Patent Ductus Venosus	Persistent patent ductus venosus, Congenital portosystemic venous shunt, Hepatic steatosis, Decre...	OMIM:601466
3-Methylglutaconic Aciduria, Type V	Dilated cardiomyopathy, Congestive heart failure, Elevated circulating aspartate aminotransferase...	OMIM:610198
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly	OMIM:607685
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure	OMIM:609909
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Limb-girdle muscular dystrophy, Elevated circulating hepatic transaminase concentration, Muscular...	ORPHA:369840
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Shoulder girdle muscle atrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle ...	OMIM:604286
Cardiomyopathy, Dilated, 1Hh	Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure	OMIM:613881
Cardiomyopathy, Familial Hypertrophic, 21	Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop...	OMIM:614676
Loeffler Endocarditis	Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co...	ORPHA:75566
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Aborted sudden cardiac death, Elevated circulating hepatic transaminase...	OMIM:614921
Giant Axonal Neuropathy 2, Autosomal Dominant	Distal amyotrophy, Cardiomyopathy	OMIM:610100
3-Methylglutaconic Aciduria Type 4	Hypoglycemia, Cardiomyopathy, Decreased liver function	ORPHA:67048
Hsd10 Disease, Neonatal Type	Hypertrophic cardiomyopathy, Abnormality of the liver	ORPHA:391457
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Decreased liver function, Congestive heart failure, Abnormal heart morphology, Hypertrophic cardi...	ORPHA:70472
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Cirrh...	OMIM:602390
Combined Oxidative Phosphorylation Deficiency 21	Limb hypertonia, Hepatic steatosis, Neonatal death	OMIM:615918
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II...	OMIM:604367
Combined Oxidative Phosphorylation Deficiency 9	Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Hepat...	OMIM:614582
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,...	ORPHA:860
Glycogen Storage Disease Vi	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Increased he...	OMIM:232700
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive...	OMIM:255160
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Hepatic artery hyperplasia, Tricuspid regurgitation, Portal vein hypo...	OMIM:619433
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Congestive heart...	ORPHA:99901
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc...	OMIM:608358
Adult-Onset Nemaline Myopathy	Increased variability in muscle fiber diameter, Nemaline bodies, Dilated cardiomyopathy, Upper li...	ORPHA:171442
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen...	OMIM:618052
Congenital Myopathy 24	Nemaline bodies, Cardiomyopathy, Type 1 muscle fiber predominance, First degree atrioventricular ...	OMIM:617336
Cardiomyopathy, Familial Hypertrophic, 20	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Left ventricular hypertr...	OMIM:613876
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	OMIM:611705
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Micrognathia,...	ORPHA:166016
Congenital Disorder Of Glycosylation, Type Ik	Cardiomyopathy, Splenomegaly, Joint contracture, Hepatomegaly, Flexion contracture	OMIM:608540
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro...	OMIM:601419
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr...	OMIM:613838
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Short met...	OMIM:268305
Cardiomyopathy, Familial Hypertrophic, 12	Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent...	OMIM:612124
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Congestive he...	ORPHA:3400
Stuve-Wiedemann Syndrome 1	Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti...	OMIM:601559
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Decreased liver...	ORPHA:42
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,...	OMIM:610021
Cardiomyopathy, Dilated, 1Z	Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure	OMIM:611879
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Cardiomyopathy	OMIM:619651
Microphthalmia With Limb Anomalies	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Postaxial foot polydactyly, Short ...	ORPHA:1106
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Myopathy, Left bundle branch block, Hepatomegaly, Ven...	OMIM:115197
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hepatic steatosis, Insulin-resistant diabetes mellitus	ORPHA:436182
Dihydrolipoamide Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ...	OMIM:246900
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Alopecia, Bulging epiphyses, Rickets of the lower limbs, Genu va...	OMIM:600785
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa...	ORPHA:168796
Childhood-Onset Nemaline Myopathy	Increased variability in muscle fiber diameter, Nemaline bodies, Cardiomyopathy, Generalized limb...	ORPHA:171439
Congenital Generalized Lipodystrophy	Insulin resistance, Congestive heart failure, Hypertrophic cardiomyopathy, Hyperinsulinemia, Hepa...	ORPHA:528
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Reduced muscle fiber...	ORPHA:34515
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:614096
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	ORPHA:86812
Ventricular Tachycardia, Familial	Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy	OMIM:192605
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Decreased liver function	OMIM:616829
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy, Fatal liver failure in infancy	ORPHA:254857
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib...	ORPHA:2634
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl...	ORPHA:2378
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:617912
Myopathy, Myofibrillar, 2	Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower...	OMIM:608810
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi...	OMIM:251230
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F...	ORPHA:56305
Seckel Syndrome 10	Insulin resistance, Ventricular hypertrophy, Glycosuria, Congestive heart failure, Elevated circu...	OMIM:617253
Combined Oxidative Phosphorylation Deficiency 31	Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy...	OMIM:617228
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Cardiom...	OMIM:615352
Obesity And Hypopigmentation	Hyperinsulinemia, Hepatic steatosis	OMIM:620195
Cardiomyopathy, Familial Restrictive, 3	Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de...	OMIM:612422
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Nemaline bodies, Global systolic dysfunction, Limb muscle weakness, Cardiomyopathy	OMIM:606842
Myopathy, Myofibrillar, 4	Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting, Auto...	OMIM:609452
Cardiomyopathy, Dilated, 1Bb	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:612877
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus, Cardiomyopathy	OMIM:520000
Cardiomyopathy, Dilated, 1V	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef...	OMIM:613697
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria, Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Stroke, Arrhyth...	OMIM:249270
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Hypoglycemic sei...	ORPHA:71212
Nephronophthisis 16	Aortic valve stenosis, Periportal fibrosis, Cholestasis, Hypertrophic cardiomyopathy, Situs inver...	OMIM:615382
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hepatomegaly, Diabetes m...	OMIM:612526
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta...	OMIM:227270
Slc35A2-Cdg	Aplasia/hypoplasia involving bones of the extremities, Short tibia, Camptodactyly of finger, Abno...	ORPHA:356961
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav...	ORPHA:45453
Neutral Lipid Storage Myopathy	Rimmed vacuoles, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, General...	ORPHA:98908
Cardiomyopathy, Familial Hypertrophic, 18	Hypertrophic cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial...	OMIM:613874
Cardiomyopathy, Dilated, 1K	Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure	OMIM:605582
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Rimmed vacuoles, Increased variability in muscle fiber diameter, Cardiomyopathy, Congestive heart...	ORPHA:52430
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Myopathy, Cirrhosis, Hepatomegaly, Hyper...	ORPHA:363400
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Hemochromatosis, Type 1	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive heart failure...	OMIM:235200
Acquired Generalized Lipodystrophy	Insulin resistance, Cardiomyopathy, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Abnorm...	ORPHA:79086
Primary Triglyceride Deposit Cardiomyovasculopathy	Rimmed vacuoles, Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Abn...	ORPHA:565612
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff...	ORPHA:3282
Hypermethioninemia Due To Adenosine Kinase Deficiency	Portal fibrosis, Secundum atrial septal defect, Skeletal muscle atrophy, Cholestasis, Hepatic ste...	OMIM:614300
Infantile Liver Failure Syndrome 2	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Cardiomyopathy, Acute hepa...	OMIM:616483
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Megabladder, Congenital	Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ...	OMIM:618719
Orofaciodigital Syndrome Ix	Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia	OMIM:258865
Glycogen Storage Disease Ixd	Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes...	OMIM:300559
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure	OMIM:192600
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy...	ORPHA:156
Dysbetalipoproteinemia	Tendon xanthomatosis, Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, P...	ORPHA:412
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m...	OMIM:252011
Familial Isolated Restrictive Cardiomyopathy	Abnormal left ventricular function, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral ...	ORPHA:75249
Barth Syndrome	Endocardial fibroelastosis, Dilated cardiomyopathy	ORPHA:111
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Aortic atherosclerotic lesion, Hepatic steatosis...	ORPHA:209902
Bent Bone Dysplasia Syndrome 2	Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Femoral bowing...	OMIM:620076
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Elevated circul...	OMIM:261680
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Short tibia, Sandal gap, Short humerus, Short ribs, Talipes equinovarus, Hypoplasia o...	OMIM:607143
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:255120
Isobutyryl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Dilated cardiomyopathy, Pulmonic stenosis	ORPHA:79159
Aortic Aneurysm, Familial Thoracic 4	Aortic regurgitation, Aortic dissection, Anterior cerebral artery stenosis, Coronary artery ather...	OMIM:132900
Peroxisomal Acyl-Coa Oxidase Deficiency	Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating hepatic transaminase ...	OMIM:264470
Coenzyme Q10 Deficiency, Primary, 7	Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Pate...	OMIM:616276
Pyruvate Dehydrogenase E3 Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hypogly...	ORPHA:2394
Lipodystrophy, Partial, Acquired, Susceptibility To	Diabetes mellitus, Hepatic steatosis	OMIM:608709
Cardiomyopathy, Dilated, 1E	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri...	OMIM:601154
Developmental And Epileptic Encephalopathy 35	Cardiomyopathy	OMIM:616647
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hypertrophic ...	OMIM:619902
Mitochondrial Complex I Deficiency, Nuclear Type 15	Hypertrophic cardiomyopathy, Flexion contracture, Myopathy, Neonatal death	OMIM:618237
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Insulin resistance, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, T...	OMIM:615381
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Insulin resistance, Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic ...	ORPHA:280365
Combined Oxidative Phosphorylation Deficiency 23	Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure	OMIM:616198
Triose Phosphate-Isomerase Deficiency	Hypertrophic cardiomyopathy, Skeletal muscle atrophy	ORPHA:868
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Reduced left v...	OMIM:616501
Phosphoribosylpyrophosphate Synthetase Superactivity	Arrhythmia, Hypertension, Abnormal aortic morphology, Cardiomyopathy	ORPHA:3222
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hypertrophic cardiomyopathy	OMIM:620270
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m...	ORPHA:1345
Mitochondrial Trifunctional Protein Deficiency	Cardiomyopathy, Lower limb muscle weakness, Cholestasis, Tricuspid regurgitation, Congestive hear...	ORPHA:746
Glycogen Storage Disease Ixb	Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Hepatomegaly, Increased muscle gl...	OMIM:261750
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Mitral regurgitation, Hepatic steatosis, Premature arteriosclerosis, Calcif...	ORPHA:391665
Spondyloepimetaphyseal Dysplasia, Missouri Type	Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin...	OMIM:602111
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Hypertrophic cardiomyopathy, Neonatal death	OMIM:617184
Grant Syndrome	Micrognathia, Tibial bowing, Down-sloping shoulders	OMIM:138930
Takayasu Arteritis	Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ar...	ORPHA:3287
Cardiomyopathy, Familial Hypertrophic, 26	Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca...	OMIM:617047
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru...	OMIM:119800
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal...	OMIM:609945
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ...	OMIM:612098
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa...	OMIM:278000
Danon Disease	Myocardial necrosis, Skeletal muscle autophagosome accumulation, Dilated cardiomyopathy, Generali...	OMIM:300257
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Joint contracture of the hand, Elevated circulating hepatic transaminase...	OMIM:300280
Combined Oxidative Phosphorylation Deficiency 11	Cardiomyopathy, Decreased liver function, Hepatic steatosis, Myopathy, Neonatal death, Stillbirth...	OMIM:614922
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Sarcosinemia	Hypertrophic cardiomyopathy, Peroneal muscle weakness, Hypersarcosinuria, Pulmonic stenosis	ORPHA:3129
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan...	OMIM:603471
Myopathy, Myofibrillar, 6	Muscular dystrophy, Restrictive cardiomyopathy, Lower limb muscle weakness, Hypertrophic cardiomy...	OMIM:612954
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing	OMIM:166740
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy	OMIM:614053
Idiopathic Copper-Associated Cirrhosis	Cirrhosis, Hepatic steatosis, Copper accumulation in liver	ORPHA:209919
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Skele...	ORPHA:264580
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,...	OMIM:613091
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:613327
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Ragged-red ...	OMIM:613561
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Cholestasis, H...	OMIM:615415
Hjv Or Hamp-Related Hemochromatosis	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Abnormality of e...	ORPHA:79230
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hyperglycinuria, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic s...	OMIM:201450
Shox-Related Short Stature	Micrognathia, Genu valgum, Ulnar radial head dislocation, Tibial bowing, Lower limb undergrowth, ...	ORPHA:314795
Cardiomyopathy, Dilated, 2B	Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti...	OMIM:614672
Cardiomyopathy, Dilated, 1S	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failure, Left ventricular n...	OMIM:613426
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Cardiomyopathy	ORPHA:93476
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:613243
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Microretrognathia, Sparse eyebrow, Short tibia, Preaxial polydactyly, Hypoplastic pel...	OMIM:616300
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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Muscular dystrophy, Cardiomyopathy, Abnormal left ventricular function, Calf muscle hypertrophy, ...	OMIM:613155
Sudden Cardiac Failure, Infantile	Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d...	OMIM:617222
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl...	ORPHA:1988
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Mitochondrial Complex I Deficiency, Nuclear Type 35	Pulmonary arterial hypertension, Cardiomyopathy, Neonatal death	OMIM:619003
Cardiomyopathy, Dilated, 2D	Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit...	OMIM:619371
Aapoaiv Amyloidosis	Atrial flutter, Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Supra...	ORPHA:439232
Combined Oxidative Phosphorylation Deficiency 42	Hypoglycemia, Cardiomyopathy, Decreased liver function, Neonatal death	OMIM:618839
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Hypoglycemia, El...	OMIM:608836
Congenital Macroglossia	Abnormal hepatic glycogen storage, Macroglossia	ORPHA:2430
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Ophthalmomandibulomelic Dysplasia	Lateral humeral condyle aplasia, Radial bowing, Ulnar deviated club hands, Fibular hypoplasia, Co...	OMIM:164900
Hemochromatosis, Type 3	Cirrhosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy	OMIM:604250
Glycogen Storage Disease Iv	Hepatic failure, Skeletal muscle atrophy, Cardiomyopathy, Hepatosplenomegaly, Portal hypertension...	OMIM:232500
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chronic pancreatitis, He...	OMIM:610717
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Hypoglycemia, Tricuspid regurgitation, Elevated circulating ...	OMIM:620300
Orofaciodigital Syndrome Type 2	Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,...	ORPHA:2751
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Aminoaciduria, Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decr...	OMIM:124000
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric...	OMIM:613873
Atrial Standstill 2	Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri...	OMIM:615745
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati...	OMIM:251880
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia	ORPHA:85447
Mitochondrial Complex I Deficiency, Nuclear Type 14	Hypertrophic cardiomyopathy, Biventricular hypertrophy, Myopathy	OMIM:618236
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure	ORPHA:91130
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Hypertrophic cardiomyopathy, Myopathy	ORPHA:1369
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he...	OMIM:608569
Lipe-Related Familial Partial Lipodystrophy	Insulin resistance, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper li...	ORPHA:435660
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cholestatic liver disease, Hypoglycemia, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, H...	ORPHA:5
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Homocystinuria, Hepatic steatosis, Mitral valve prolapse, Stroke, Myocardial infarction, Pancreat...	OMIM:236200
Cidec-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Hepatic steatosis, Calf muscle hypertrophy, Pancreatitis, He...	ORPHA:435651
Neuraminidase Deficiency	Skeletal muscle atrophy, Cardiomyopathy, Cherry red spot of the macula, Splenomegaly, Cardiomegal...	OMIM:256550
Combined Oxidative Phosphorylation Deficiency 17	Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:615440
Cardiomyopathy, Familial Hypertrophic, 2	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Ventricular septal hyper...	OMIM:115195
Mitochondrial Complex I Deficiency, Nuclear Type 22	Hypertrophic cardiomyopathy	OMIM:618243
Autosomal Recessive Progressive External Ophthalmoplegia	Cardiomyopathy, Hand muscle weakness, Muscle fiber atrophy, Ragged-red muscle fibers, Myopathy, S...	ORPHA:254886
Neutral Lipid Storage Disease With Ichthyosis	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Cardiomyopathy, ...	ORPHA:98907
Combined Oxidative Phosphorylation Deficiency 20	Left ventricular noncompaction, Hypertrophic cardiomyopathy	OMIM:615917
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia	OMIM:618235
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertension, Hepatic steatosis, Diabetic ketoacidosis	OMIM:615238
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Cardiomyopathy, Splenomegaly, Stroke, Pancreatitis, Hepatomegaly	ORPHA:79312
Cardiomyopathy, Dilated, 2J	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept...	OMIM:620635
Duchenne Muscular Dystrophy	Calf muscle hypertrophy, Skeletal muscle atrophy, Cardiomyopathy, Flexion contracture	ORPHA:98896
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Takotsubo cardiomyopathy	ORPHA:363549
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Increased variability in muscle fiber diameter, Generalized amyotrophy, Secundum atrial septal de...	OMIM:616866
Propionic Acidemia	Hyperglycinuria, Cardiomyopathy, Hypoglycemia, Cerebellar hemorrhage, Pancreatitis, Limb hyperton...	OMIM:606054
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Fibular aplasia, Micrognathia, Apl...	ORPHA:3320
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular...	OMIM:615184
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Atherosclerosis, Increased intramuscular fat, Hyperglycemia,...	OMIM:151660
Carnitine-Acylcarnitine Translocase Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypotension, Cardiomyop...	ORPHA:159
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Glycosuria, Decreased liver function, Hypertrophic cardiomyopathy, Hepatomegaly, S...	ORPHA:436271
Wilson Disease	Proximal muscle weakness in lower limbs, Elevated circulating hepatic transaminase concentration,...	ORPHA:905
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l...	OMIM:620247
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, D...	OMIM:619013
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glycosuria, Hypoglycemia, Hepatic periportal necrosis, Hepatic steatos...	OMIM:231680
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Abnormal atrioventricular conduction, Skeletal muscle atrophy, Cardiomyopathy, Limb muscle weakne...	ORPHA:329336
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter, Elevated circulating aspartate aminotransferase c...	OMIM:615595
Combined Oxidative Phosphorylation Deficiency 40	Hypertrophic cardiomyopathy, Hypoglycemia, Decreased liver function, Neonatal death	OMIM:618835
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy, Hypoglycemia	OMIM:300438
Omodysplasia 1	Rhizomelia, Short tibia, Limited knee flexion/extension, Micrognathia, Short humerus, Fibular hyp...	OMIM:258315
Neurodegeneration And Seizures Due To Copper Transport Defect	Talipes equinovarus, Short tibia, Short femur	OMIM:620306
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Decreased muscle mass, Congestive heart failure, Hyperglycemia, Portal hypertensi...	ORPHA:465508
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hep...	OMIM:615438
Dilated Cardiomyopathy With Ataxia	Generalized amyotrophy, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concent...	ORPHA:66634
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyopathy, Bradycardia	OMIM:618815
Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Dilated...	ORPHA:261
Infantile Refsum Disease	Cardiomyopathy, Arrhythmia, Hepatomegaly, Very long chain fatty acid accumulation, Facial palsy	ORPHA:772
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Dilated...	ORPHA:98853
3-Methylglutaconic Aciduria Type 7	Elevated circulating hepatic transaminase concentration, Neonatal hypoglycemia, Hepatic steatosis...	ORPHA:445038
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Increased variability in muscle fiber diameter, Cardiomyopathy, Myopathy, Calf muscle hypertrophy...	ORPHA:119
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f...	OMIM:206920
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Insulin-resistant diabetes mellitus, Insulin resistance	ORPHA:79085
Muscular Dystrophy, Duchenne Type	Muscular dystrophy, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Abnormal EK...	OMIM:310200
Naxos Disease	Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ...	ORPHA:34217
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Abnormal atrioventricular conduc...	ORPHA:732
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Interrupted aortic arch, Increased variability in muscle fiber diameter, Elevated circulating hep...	ORPHA:17
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy	OMIM:618683
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Neonatal hypoglycemia, Splenomegaly, Cardiomyopathy	OMIM:619046
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatic failure, Cardiomyopathy, Hypoketotic hypoglycemia, Hepatic steatosis, Cardiomegaly, Hepat...	ORPHA:228308
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypertrophic cardiomyopathy, Hypoglycemia	OMIM:618241
Familial Cutaneous Collagenoma	Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure	ORPHA:53296
Fetal Parvovirus Syndrome	Hypertrophic cardiomyopathy	ORPHA:295
Cardiomyopathy, Dilated, 2F	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:619747
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis, Myopathy	OMIM:275630
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cardiomyopathy, Limb muscle weakness, Ragged-red muscle fibers, Arrhythmia, Bradycardia, Diabetes...	OMIM:609286
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Left ventricular noncompaction, Tricuspid regurgitation, Left ventricular...	OMIM:619167
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P...	ORPHA:1686
Alg1-Cdg	Abnormal heart morphology, Cardiomyopathy, Decreased liver function	ORPHA:79327
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hepatic failure, Skeletal muscle atrophy, Micronodular cirrhosis, Hypoglycemia, Hepatocellular ne...	OMIM:256810
Mcleod Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Elevated circulating aspartate aminotransferase concentra...	OMIM:300842
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy,...	ORPHA:367
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short tibia, Preaxial polydactyly, Micrognathia, Fibular hypoplasia, Short ribs, Postaxial polyda...	OMIM:617925
Orofaciodigital Syndrome X	Finger aplasia, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly	OMIM:165590
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Decreased liver...	ORPHA:26791
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he...	OMIM:613027
Gracile Syndrome	Cholestasis, Cirrhosis, Hepatic steatosis, Elevated hepatic iron concentration	ORPHA:53693
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Elevated circulating aspar...	OMIM:605911
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia, Pericardial effusion	OMIM:614702
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
Sick Sinus Syndrome 2	Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri...	OMIM:163800
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Atrial flutter, Sinoatrial block...	ORPHA:300751
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa...	OMIM:620135
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hypertrophic cardiomyopathy, Telangiectasia, Telangiectasia of the skin, Hepatomegaly, Generalize...	ORPHA:79279
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
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperpl...	OMIM:620454
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Micrognathia, Small...	ORPHA:96334
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Ragged-red muscle ...	ORPHA:1349
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Camptodactyly of finger, Hypertrophic cardiomyopathy, Congestive heart failure, Abnormal pulmonar...	ORPHA:1194
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe...	OMIM:618528
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre...	ORPHA:1788
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Congestive heart failure, Arterial stenosis, Carotid artery calcification...	OMIM:208000
Combined Oxidative Phosphorylation Deficiency 37	Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ...	OMIM:618329
X-Linked Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima...	ORPHA:98863
Autosomal Dominant Optic Atrophy Plus Syndrome	Myopathy, Limb-girdle muscle weakness, Cardiomyopathy, Diabetes mellitus	ORPHA:1215
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect	OMIM:616277
Noonan Syndrome 11	Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis	OMIM:618499
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Hypoglycemia, Exocrine pancreatic insuf...	OMIM:619418
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, H...	OMIM:261740
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
Fructose-1,6-Bisphosphatase Deficiency	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic steatosis, Fasting...	ORPHA:348
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Generalized aminoaciduria, Hepatic failure, Glycosuria, Elevated circ...	ORPHA:2088
Collagenoma, Familial Cutaneous	Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ...	OMIM:115250
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated circulating hepatic transaminase concentration, Decreased muscle mass, Ragged-red muscle...	ORPHA:298
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Alg3-Cdg	Cardiomyopathy, Decreased liver function, Coarctation of the descending aortic arch, Macroglossia...	ORPHA:79321
Heterotaxy, Visceral, 8, Autosomal	Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def...	OMIM:617205
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Glycosuria, Decreased liver function, Hypertrophic cardiomyopathy, Weakness of fac...	OMIM:220110
Isolated Succinate-Coq Reductase Deficiency	Abnormal atrioventricular conduction, Distal amyotrophy, Skeletal muscle atrophy, Hypertrophic ca...	ORPHA:3208
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Cardiomyopathy, Muscle f...	OMIM:258450
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Short ribs...	OMIM:263520
Combined Oxidative Phosphorylation Deficiency 38	Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome	OMIM:618378
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Nemaline bodies, Flexion contracture, Myopathy, Cardiomyopathy	OMIM:616549
Dpm1-Cdg	Hepatic fibrosis, Muscular dystrophy, Elevated circulating hepatic transaminase concentration, He...	ORPHA:79322
Eiken Syndrome	Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,...	OMIM:600002
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Myopathy, EMG: myopat...	ORPHA:71
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi...	OMIM:264800
Monosomy 13Q34	Insulin resistance, Hematochezia, Epistaxis, Hepatic steatosis, Common atrium, Pulmonic stenosis	ORPHA:96168
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Lower limb hypertonia,...	OMIM:619487
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Gastrointestin...	ORPHA:247691
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, C...	ORPHA:79303
American Trypanosomiasis	Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Myocarditis, Hepatomegaly	ORPHA:3386
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hypoglycemia, Cardiomyopathy, Cerebellar hemorrhage, Pancreatitis, Hepatomegaly	OMIM:251000
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Mitral regurgitation, Hepatic steatosis, Ventricular septal defect, Arrhyth...	ORPHA:254346
Craniosynostosis With Fibular Aplasia	Fibular aplasia	OMIM:218550
Adrenomyodystrophy	Hepatic steatosis, Myopathy	ORPHA:977
Developmental And Epileptic Encephalopathy 75	Prolonged neonatal jaundice, Cardiomyopathy, Decreased liver function	OMIM:618437
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy	OMIM:612989
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hepatic failure, Splenomegaly, Hypoglycemia	ORPHA:664
Ddost-Cdg	Elevated circulating hepatic transaminase concentration, Hepatic steatosis	ORPHA:300536
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Pancreatitis, Cardiomyopathy	ORPHA:27
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Left ventricular ...	OMIM:615418
Combined Oxidative Phosphorylation Deficiency 33	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Myopathy, Cardiomegaly, ...	OMIM:617713
Mitochondrial Complex I Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Skeletal muscle atrophy	OMIM:618228
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho...	ORPHA:330001
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Intrahepatic cholestasis, Hepatic fibrosis, Decreased liver function, Hypoglycemia, Elevated circ...	OMIM:617093
Beta-Thalassemia	Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly	ORPHA:848
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Spider hema...	ORPHA:2137
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Rhabdomyolysis, Glycogen accumulation in mu...	ORPHA:368
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Skeletal muscle atrophy, Hypoglycemia, Cardiomyopathy, Limb hypertonia, Generalized amyotrophy	OMIM:617710
Combined Oxidative Phosphorylation Deficiency 59	Cholelithiasis, Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left vent...	OMIM:620646
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Increased hepatic glycogen conten...	OMIM:619259
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Dilatation of the ventricular cavity, Rig...	OMIM:609040
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Restrictive cardiomyopathy, Mitral regurgitation, Patent foramen ovale, Camptodactyly, Flexion co...	ORPHA:88630
Sengers Syndrome	Hypertrophic cardiomyopathy, Myopathy, Pulmonary arterial hypertension, Cardiac arrest, Sudden ca...	OMIM:212350
Macrocephaly-Intellectual Disability-Autism Syndrome	Hepatic steatosis	ORPHA:210548
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,...	OMIM:619702
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Generalized muscular app...	OMIM:608594
Alstrom Syndrome	Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Insulin-resistan...	OMIM:203800
Liver Failure, Infantile, Transient	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Microvesicular he...	OMIM:613070
Atelosteogenesis, Type I	Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Aplasia/Hypoplasia of...	OMIM:108720
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Congestiv...	OMIM:617156
Neurofibromatosis-Noonan Syndrome	Hypertrophic cardiomyopathy, Pulmonic stenosis	ORPHA:638
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Telangiectasia of the skin, Finger ...	OMIM:212112
Noonan Syndrome 8	Hypertrophic cardiomyopathy, Mitral regurgitation, Ventricular septal defect, Left ventricular hy...	OMIM:615355
3-Hydroxy-3-Methylglutaric Aciduria	Hypotension, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Rec...	ORPHA:20
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Myofiber disarray, M...	OMIM:604377
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy	ORPHA:1842
Congenital Disorder Of Glycosylation, Type Ia	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Stroke...	OMIM:212065
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Generalized muscular appearance from bir...	OMIM:269700
Mucopolysaccharidosis-Plus Syndrome	Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Atrial septal defect, Hepato...	OMIM:617303
Caffey Disease	Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs	OMIM:114000
Cyclic Vomiting Syndrome	Cardiomyopathy	OMIM:500007
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Roifman Syndrome	Splenomegaly, Hip contracture, Ventricular septal defect, Noncompaction cardiomyopathy, Hepatomegaly	OMIM:616651
Refsum Disease, Classic	Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Cardiomegaly, Arrhythmia	OMIM:266500
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulat...	OMIM:618775
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm...	OMIM:619051
Ataxia With Vitamin E Deficiency	Hypertrophic cardiomyopathy, Arrhythmia, Skeletal muscle atrophy, Diabetes mellitus	ORPHA:96
Polyarteritis Nodosa	Hypertension, Raynaud phenomenon, Cardiomyopathy, Pericarditis	ORPHA:767
Saul-Wilson Syndrome	Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of the odontoid pr...	OMIM:618150
Heart Block, Congenital	Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria...	OMIM:234700
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Hypertension, Cardiomyopathy	OMIM:102200
Kyphomelic Dysplasia	Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humerus, Micrognathia, Femoral bowi...	OMIM:211350
Acro-Renal-Mandibular Syndrome	Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent ...	ORPHA:958
Interstitial Lung And Liver Disease	Aminoaciduria, Hepatic fibrosis, Hepatic failure, Cholestasis, Elevated circulating aspartate ami...	OMIM:615486
Carnitine Palmitoyltransferase Ii Deficiency	Hepatic failure, Cardiomyopathy, Hypoketotic hypoglycemia, Myopathy, Rhabdomyolysis, Hepatic calc...	ORPHA:157
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Coarctation of abdominal aorta, Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy	OMIM:226100
Boomerang Dysplasia	Absent radius, Fibular aplasia, Hypoplastic iliac body	OMIM:112310
Kearns-Sayre Syndrome	Third degree atrioventricular block, Cardiomyopathy, Ragged-red muscle fibers, Arrhythmia, Diabet...	OMIM:530000
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart val...	OMIM:230500
Cardiofaciocutaneous Syndrome 3	Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect	OMIM:615279
Occipital Horn Syndrome	Aplastic clavicle, Coarse hair, Humerus varus, Genu valgum, Avascular necrosis of the capital fem...	ORPHA:198
Congenital Muscular Dystrophy With Cerebellar Involvement	Muscular dystrophy, Cardiomyopathy, Reduced muscle fiber alpha dystroglycan, Hypoglycosylation of...	ORPHA:370959
3-Methylglutaconic Aciduria, Type Viib	Flexion contracture, Neonatal hypoglycemia, Hepatic steatosis, Congestive heart failure	OMIM:616271
Acromelic Frontonasal Dysostosis	Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic...	OMIM:603671
Isolated Atp Synthase Deficiency	Hepatomegaly, Arrhythmia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy	ORPHA:254913
Citrullinemia, Type Ii, Neonatal-Onset	Intrahepatic cholestasis, Portal fibrosis, Elevated circulating aspartate aminotransferase concen...	OMIM:605814
Hec Syndrome	Arrhythmia, Endocardial fibroelastosis, Cardiomyopathy	ORPHA:2119
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Hypoglycemia	OMIM:210200
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Hematochezia, Elevated circulating hepatic transaminase concentration, Dilated ...	OMIM:615895
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Dilated cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:614299
Infantile Spasms-Broad Thumbs Syndrome	Hypertrophic cardiomyopathy	ORPHA:3173
Combined Oxidative Phosphorylation Defect Type 23	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	ORPHA:444013
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mellitus, Hep...	ORPHA:2959
8P23.1 Microdeletion Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ...	ORPHA:251071
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Femoral bowing, Fibular bowing, Tibial bowing, Metaphyseal chondrodysplasia, Aplasia/Hypoplasia o...	ORPHA:85165
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hypertrophic cardiomyopathy, Facial hypotonia, Heart murmur, Shortened PR interval, Cardiomegaly,...	ORPHA:308552
Al Amyloidosis	Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Abnormal P wave, Postural hyp...	ORPHA:85443
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Abnormal cerebral vascular morphology, A...	ORPHA:758
Congenital Enterovirus Infection	Hepatic failure, Hypotension, Hepatitis, Cardiomyopathy, Cholestasis, Myocarditis, Pericardial ef...	ORPHA:292
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Gm1 Gangliosidosis	Cardiomyopathy, Camptodactyly of finger, Abnormal heart morphology, Congestive heart failure, Hep...	ORPHA:354
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Skeletal muscle atrophy, Alpha-aminoadipic aciduria, Cardiomyopathy	OMIM:620089
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Hypertrophic cardiomyopathy, Neonatal death	OMIM:618810
Fibrochondrogenesis 1	Hypoplastic ischia, Hypoplastic scapulae, Small hand, Rhizomelia, Broad long bones, Fibular hypop...	OMIM:228520
Melas	Type I diabetes mellitus, Dilated cardiomyopathy, Cardiomyopathy, Concentric hypertrophic cardiom...	ORPHA:550
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:619053
Omodysplasia 2	Broad femoral neck, Short 1st metacarpal, Rhizomelic arm shortening, Micrognathia, Short humerus,...	OMIM:164745
Harel-Yoon Syndrome	Hypertrophic cardiomyopathy, Distal amyotrophy	OMIM:617183
Immunodeficiency 87 And Autoimmunity	Hepatic failure, Dilated cardiomyopathy, Third degree atrioventricular block, Cholestasis, Elevat...	OMIM:619573
Aicardi-Goutieres Syndrome 1	Vasculitis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Splenomegaly...	OMIM:225750
Combined Oxidative Phosphorylation Deficiency 57	Hypertrophic cardiomyopathy, Cardiac arrest, Left ventricular noncompaction cardiomyopathy, Neona...	OMIM:620167
Roifman Syndrome	Noncompaction cardiomyopathy, Hepatosplenomegaly, Hip contracture	ORPHA:353298
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal vascular...	ORPHA:464321
Wolfram Syndrome 1	Stroke-like episode, Diabetes mellitus, Cardiomyopathy	OMIM:222300
Congenital Myopathy 21 With Early Respiratory Failure	Hypertrophic cardiomyopathy, EMG: myopathic abnormalities	OMIM:620326
Arterial Tortuosity Syndrome	Dilated cardiomyopathy, Aortic root aneurysm, Aortic dissection, Congestive heart failure, Hypert...	ORPHA:3342
Combined Oxidative Phosphorylation Deficiency 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Ragged-red muscle fib...	OMIM:614924
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Restrictive cardiomyopathy, Endocardial fibroelastosis, Pericardial effusion, Right atrial enlarg...	OMIM:619313
Acrorenal-Mandibular Syndrome	Hypoplastic scapulae, Toe syndactyly, Absent nipple, Rudimentary fibula, Micrognathia, Rudimentar...	OMIM:200980
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hypertrophic cardiomyopath...	OMIM:616878
Joubert Syndrome 32	Hypertrophic cardiomyopathy	OMIM:617757
Mesomelia-Synostoses Syndrome	Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Ulna...	OMIM:600383
Phocomelia, Schinzel Type	Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi...	ORPHA:2879
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Skeletal muscle fibrosis,...	OMIM:616263
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Cardiomyopathy	OMIM:600721
Tyrosinemia, Type I	Hepatic failure, Elevated circulating hepatic transaminase concentration, Gastrointestinal hemorr...	OMIM:276700
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly, Hypoglycemia	ORPHA:391428
S-Adenosylhomocysteine Hydrolase Deficiency	Muscular dystrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Abno...	ORPHA:88618
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hypertrophic cardiomyopathy, Pulmonic stenosis	ORPHA:2701
Peroxisome Biogenesis Disorder 9B	Cardiomyopathy	OMIM:614879
Atypical Werner Syndrome	Aortic valve stenosis, Aortic valve calcification, Insulin-resistant diabetes mellitus, Hyperglyc...	ORPHA:79474
Aicardi-Goutieres Syndrome 7	Vasculitis, Hematochezia, Hepatitis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis...	OMIM:615846
Glycogen Storage Disease Due To Acid Maltase Deficiency	Vasculitis, Lower limb muscle weakness, Hypertrophic cardiomyopathy, Dilatation of the cerebral a...	ORPHA:365
Pearson Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Glycosuria, Cardiomyopa...	ORPHA:699
Familial Chylomicronemia Syndrome	Pulmonary embolism, Hepatosplenomegaly, Hepatic steatosis, Recurrent pancreatitis, Jaundice, Acut...	ORPHA:444490
Noonan Syndrome With Multiple Lentigines	Hypertrophic cardiomyopathy, Atrioventricular canal defect, Bundle branch block, Abnormal pulmona...	ORPHA:500
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy, Tricuspid regurgitation, Right ventricular dilatation, Wolff-Parkins...	OMIM:619705
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Transient a...	OMIM:229600
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Cardiomyopathy	ORPHA:324525
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ...	OMIM:274000
Refsum Disease	Skeletal muscle atrophy, Splenomegaly, Cardiomyopathy, Heart block	ORPHA:773
Liver Disease, Severe Congenital	Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ...	OMIM:619991
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypot...	ORPHA:275761
Amyloidosis, Finnish Type	Decreased heart rate variability, Cardiac amyloidosis, Cardiomyopathy, Orthostatic hypotension	OMIM:105120
Citrullinemia Type Ii	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Pan...	ORPHA:247585
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat...	OMIM:616433
Barth Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgit...	OMIM:302060
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Hypertrophic cardiomyopathy, Skeletal muscle atrophy	OMIM:616896
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Proximal muscle weakness in upper limbs, Cardiomyopathy, Lower limb muscle weakness, Dilatation o...	ORPHA:363623
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Proximal amyotrophy, Hypertension, Hepatic steatosis, Glucose intolerance	ORPHA:189427
Rabson-Mendenhall Syndrome	Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Cardiomyopat...	ORPHA:769
Leopard Syndrome 2	Hypertrophic cardiomyopathy	OMIM:611554
Pituitary Gigantism	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Type II diabetes mellitus	ORPHA:99725
Noonan Syndrome 10	Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricular septal defect, M...	OMIM:616564
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pericardium morpholog...	ORPHA:183
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Hepatomegaly, Flexion contracture, Atrial septal defect, Hypertrophic cardiomyopathy	OMIM:619383
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Fibular hypoplasia, Short ribs, Hypoplastic v...	ORPHA:3144
Campomelic Dysplasia	Small abnormally formed scapulae, 11 pairs of ribs, Micrognathia, Femoral bowing, Tibial bowing, ...	ORPHA:140
D-Bifunctional Protein Deficiency	Elevated circulating hepatic transaminase concentration, Decreased muscle mass, Cholestasis, Hepa...	OMIM:261515
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Bilateral superior vena cava, Hypoglycemia, Hypertrophic cardiomyopathy, Mitral atresia, Hypergly...	OMIM:220111
Coenzyme Q10 Deficiency, Primary, 1	Hypertrophic cardiomyopathy, Decreased level of coenzyme Q10 in skeletal muscle, Hepatic failure,...	OMIM:607426
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Preaxial foot polydactyly, Patellar hypoplasia	ORPHA:1827
Abetalipoproteinemia	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Congestive heart failu...	ORPHA:14
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Hypertrophic car...	ORPHA:309854
Noonan Syndrome 2	Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Mitral stenosis, Mitr...	OMIM:605275
Congenital Disorder Of Glycosylation, Type Iiw	Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Increased hepa...	OMIM:619525
Mucolipidosis Type Ii	Abnormal atrioventricular valve physiology, Aortic regurgitation, Cardiomyopathy, Hepatosplenomeg...	ORPHA:576
Wilson Disease	Aminoaciduria, Hepatic failure, Portal fibrosis, Glycosuria, Acute hepatic failure, Elevated circ...	OMIM:277900
Isolated Complex I Deficiency	Hypoglycemia, Hypertrophic cardiomyopathy, Hepatomegaly, Diabetes mellitus, Abnormal mitochondria...	ORPHA:2609
Noonan Syndrome 5	Hypertrophic cardiomyopathy, Arrhythmia, Atrial septal defect, Pulmonic stenosis	OMIM:611553
Amyloidosis, Hereditary Systemic 1	Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Stroke-like episode, Cardiomy...	OMIM:105210
Juvenile Dermatomyositis	Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Myositis, Angina pe...	ORPHA:93672
Hurler Syndrome	Aortic regurgitation, Cardiomyopathy, Hepatosplenomegaly, Endocardial fibroelastosis, Splenomegal...	OMIM:607014
Mucolipidosis Iii Alpha/Beta	Hepatomegaly, Severely reduced left ventricular ejection fraction, Aortic regurgitation, Cardiomy...	OMIM:252600
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap...	OMIM:276820
Friedreich Ataxia	Hypertrophic cardiomyopathy, Abnormal EKG, Diabetes mellitus, Congestive heart failure	OMIM:229300
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Hepatic fibrosis, Hypoplastic left heart, Elevated circulating hepatic...	ORPHA:99413
Turner Syndrome	Cholestatic liver disease, Hepatic fibrosis, Hypoplastic left heart, Elevated circulating hepatic...	ORPHA:881
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
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Epistaxis, Hypoglycemic seizures, Hypoglycemia, Hepatic steatosis, Pulmonary venous hypertension,...	ORPHA:79259
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ossification of capital fe...	OMIM:208500
Hurler Syndrome	Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Endocardial fibroelasto...	ORPHA:93473
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy	OMIM:610773
Von Hippel-Lindau Disease	Upper limb muscle weakness, Cardiomyopathy, Palpitations, Distal lower limb muscle weakness, Myoc...	ORPHA:892
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening...	OMIM:114290
Mucopolysaccharidosis Type 2	Contractures of the large joints, Cardiomyopathy, Abnormal heart morphology, Abnormal heart valve...	ORPHA:580
Ogden Syndrome	Torsade de pointes, Ventricular septal defect, Bicuspid aortic valve, Arrhythmia, Premature ventr...	OMIM:300855
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Flexion contracture, Myopathy, Cardiomyopathy, Weakness of facial musculature	OMIM:201470
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Muscular dystrophy, Cardiomyopathy, Absent muscle fiber merosin, Reduced left ventricular ejectio...	ORPHA:258
Mucopolysaccharidosis, Type Vii	Cardiomyopathy, Abnormal heart valve morphology, Diastasis recti, Splenomegaly, Hepatomegaly, Mac...	OMIM:253220
Lethal Acantholytic Erosive Disorder	Hypovolemic shock, Cardiomyopathy, Cardiomegaly, Camptodactyly of toe, Impaired myocardial contra...	ORPHA:158687
Noonan Syndrome 6	Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:613224
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Glycosuria, Exocrine pancreatic insufficiency, Hypertrophic cardiomyopathy, Glucose intolerance, ...	OMIM:616539
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hypertrophic cardiomyopathy, Patent ductus arteriosus, Ventricular septal defect	OMIM:612938
Garg-Mishra Progeroid Syndrome	Microvesicular hepatic steatosis	OMIM:620601
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ...	OMIM:613658
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Prolonged neona...	OMIM:619377
Hydrolethalus Syndrome 1	Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Talipes equinovarus, Duplication...	OMIM:236680
Wars2-Related Combined Oxidative Phosphorylation Defect	Neonatal hypoglycemia, Limb hypertonia, Cardiomyopathy, Generalized amyotrophy	ORPHA:572798
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Splenomegaly, Cardiomyopathy	OMIM:616084
Mitochondrial Complex I Deficiency, Nuclear Type 29	Abnormal heart morphology, Palpitations, Hypertrophic cardiomyopathy	OMIM:618250
Hypocalcemic Vitamin D-Dependent Rickets	Hepatomegaly, Generalized aminoaciduria, Splenomegaly, Cardiomyopathy	ORPHA:289157
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis	OMIM:616672
Mucopolysaccharidosis Type 2, Severe Form	Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Hepatosplenomegaly, Abn...	ORPHA:217085
Friedreich Ataxia	Diabetes mellitus, Cardiomyopathy, Hand muscle atrophy	ORPHA:95
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Hepatomegaly, Limb-girdle muscular dystrophy, Elevated circulating hepatic transaminase concentra...	OMIM:615356
Gm1 Gangliosidosis Type 1	Macroglossia, Hepatosplenomegaly, Cardiomyopathy, Cherry red spot of the macula	ORPHA:79255
Hereditary Spherocytosis	Cholelithiasis, Restrictive cardiomyopathy, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:822
1P36 Deletion Syndrome	Dilated cardiomyopathy, Annular pancreas, Camptodactyly of finger, Abnormal heart valve morpholog...	ORPHA:1606
Cimdag Syndrome	Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis	OMIM:619273
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol...	ORPHA:93111
Costello Syndrome	Hypertrophic cardiomyopathy, Thickened Achilles tendon, Mitral valve prolapse, Ventricular septal...	ORPHA:3071
Penoscrotal Transposition	Cardiomyopathy	ORPHA:2842
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated circulating hepatic transaminase concentration, Tricuspid regurgitation, Glucose intoler...	OMIM:619127
Mucopolysaccharidosis Type 2, Attenuated Form	Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Hepatosplenomegaly, Abn...	ORPHA:217093
Oculopharyngodistal Myopathy 1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Distal a...	OMIM:164310
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Cholestasis...	ORPHA:247598
Vici Syndrome	Cardiomyopathy	ORPHA:1493
Hyperglycinemia, Lactic Acidosis, And Seizures	Hypertrophic cardiomyopathy, Joint contracture	OMIM:614462
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Type 2 muscle f...	OMIM:615471
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic stea...	OMIM:618278
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Cardiomyopathy, Patent ductus arteriosus, Abnormal cardiac septum morphology	OMIM:217980
Mucopolysaccharidosis, Type Vi	Sinus tachycardia, Cardiomyopathy, Tricuspid regurgitation, Splenomegaly, Mitral stenosis, Mitral...	OMIM:253200
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Cardiomyopathy, Diastasis recti, Cardiomegaly, Hepatoblastoma, Hepatomega...	OMIM:130650
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Peripheral pulmonary artery stenosis, Aortic root aneurysm, Hypertrophic cardiomyopathy, Tricuspi...	OMIM:617506
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatic failure, Skeletal muscle atrophy, Hypoglycemia, Concentric hypertrophic cardiomyopathy, H...	OMIM:252010
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Congestive heart failure, Abnormal heart morphology, Hypertrophic cardiomyopathy, Hepatosplenomeg...	ORPHA:505248
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Elbow flexion contracture, Hip contracture, Microvesicular hepatic steatosis, Knee flexion contra...	OMIM:300868
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Nodular regenerative hyperplasia of liver, Generalized aminoaciduria, Elevated circulating hepati...	ORPHA:404454
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Hypertrophic cardiomyopathy, Secundum atrial septal defect, Facial diplegia	OMIM:619121
Cockayne Syndrome Type 3	Vascular calcification, Elevated circulating hepatic transaminase concentration, Skeletal muscle ...	ORPHA:90324
Agel Amyloidosis	Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Abnormal spleen...	ORPHA:85448
Leigh Syndrome	Generalized aminoaciduria, Hepatic failure, Skeletal muscle atrophy, Hypoglycemia, Congestive hea...	ORPHA:506
Familial Glucocorticoid Deficiency	Hypertrophic cardiomyopathy, Hypotension, Hypoglycemic seizures, Ketotic hypoglycemia	ORPHA:361
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Ventricu...	OMIM:270400
Wolfram Syndrome	Gastrointestinal hemorrhage, Cardiomyopathy, Abnormal mesentery morphology, Myopathy, Diabetes me...	ORPHA:3463
Bloom Syndrome	Facial telangiectasia in butterfly midface distribution, Type II diabetes mellitus, Hepatic steat...	OMIM:210900
Noonan Syndrome 4	Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect	OMIM:610733
Linear Skin Defects With Multiple Congenital Anomalies 3	Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycardia, Ventricular fibrill...	OMIM:300952
Fabry Disease	Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc...	ORPHA:324
Martsolf Syndrome 1	Cardiac arrest, Cardiomyopathy, Congestive heart failure	OMIM:212720
Toriello-Carey Syndrome	Cardiomyopathy, Tetralogy of Fallot, Coarctation of aorta, Abnormal cardiac septum morphology, Pa...	ORPHA:3338
Cantú Syndrome	Hypertrophic cardiomyopathy, Patent ductus arteriosus, Cardiomegaly, Abnormal heart valve morphology	ORPHA:1517
Otopalatodigital Syndrome, Type Ii	Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia...	OMIM:304120
Bardet-Biedl Syndrome	Insulin resistance, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Sk...	ORPHA:110
Intellectual Developmental Disorder, Autosomal Dominant 68	Joint contracture of the 5th finger, Hepatic steatosis, Patent ductus arteriosus	OMIM:619934
Hermansky-Pudlak Syndrome 1	Hematochezia, Epistaxis, Cardiomyopathy	OMIM:203300
Aicardi-Goutières Syndrome	Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Moyamoya ph...	ORPHA:51
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Cholestasis, Hepatosplenomegaly, Hepatic steatosis, Hip contracture, Ventricular septal defect, H...	OMIM:619503
Simpson-Golabi-Behmel Syndrome	Polysplenia, Cardiomyopathy, Camptodactyly of finger, Bundle branch block, Hypoglycemia, Splenome...	ORPHA:373
Mucopolysaccharidosis Type 1	Abnormal tendon morphology, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart...	ORPHA:579
Cranioectodermal Dysplasia 1	Short distal phalanx of finger, Rhizomelia, Short nail, Short toe, Clinodactyly, Radial deviation...	OMIM:218330
Aromatase Deficiency	Insulin resistance, Type II diabetes mellitus, Hepatic steatosis	ORPHA:91
Zimmermann-Laband Syndrome 1	Aortic root aneurysm, Cardiomyopathy, Aortic arch aneurysm, Splenomegaly, Hepatomegaly, Patent du...	OMIM:135500
Postinfectious Vasculitis	Bacterial endocarditis, Cerebral vasculitis, Cardiomyopathy, Ischemic stroke, Raynaud phenomenon,...	ORPHA:48435
Noonan Syndrome 14	Aortic regurgitation, Hypertrophic cardiomyopathy, Mitral valve prolapse, Scapular winging, Pulmo...	OMIM:619745
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Elevated circulating hepatic transaminase concentration, Congestive heart f...	OMIM:619475
Noonan Syndrome	Abnormal EKG, Hypertrophic cardiomyopathy, Abnormality of the spleen, Abnormal pulmonary valve mo...	ORPHA:648
Primary Hyperoxaluria	Elevated circulating hepatic transaminase concentration, Arterial occlusion, Cardiomyopathy, Inte...	ORPHA:416
Arima Syndrome	Hepatic fibrosis, Hepatic steatosis, Cirrhosis, Hepatomegaly, Hypertension	OMIM:243910
Mitochondrial Dna-Associated Leigh Syndrome	Hepatic failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, C...	ORPHA:255210
Cartilage-Hair Hypoplasia	Cardiomyopathy, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal cardiac septum mor...	ORPHA:175
Noonan Syndrome 3	Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Patent foramen ova...	OMIM:609942
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypertrophic cardiomyopathy, Arrhythmia, Hypertension, Neonatal death	OMIM:614052
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,...	OMIM:203700
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Skeletal muscle atrophy, Hypertrophic cardiomyopa...	ORPHA:508
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Hypertrophic cardiomyopathy	OMIM:613673
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Ven...	OMIM:309801
Vici Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Myopathy, Left ventricular hype...	OMIM:242840
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Preaxial hand polydactyly, Campto...	ORPHA:2753
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Congestive heart failure, Hypertrophic cardiomyopathy, Diastasis recti, Spl...	OMIM:252500
Digeorge Syndrome	Interrupted aortic arch, Cholelithiasis, Right aortic arch with mirror image branching, Tetralogy...	OMIM:188400
Usher Syndrome	Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology, Myopathy	ORPHA:886
Oculoectodermal Syndrome	Hypertrophic cardiomyopathy, Transient ischemic attack, Coarctation of aorta, Atrial septal defec...	OMIM:600268
Kinsship Syndrome	Hypertrichosis, Micrognathia, Fibular hypoplasia, Polydactyly, Coxa valga, Pes planus, Dislocated...	OMIM:619297
Alternating Hemiplegia Of Childhood	Cardiomyopathy, Abnormal T-wave, Cardiac conduction abnormality, Arrhythmia, Facial hypotonia	ORPHA:2131
Cutis Laxa, Autosomal Recessive, Type Iid	Congestive heart failure, Hypertrophic cardiomyopathy, Right bundle branch block, Atrial septal d...	OMIM:617403
Microcephaly 13, Primary, Autosomal Recessive	Restrictive cardiomyopathy	OMIM:616051
Trichothiodystrophy	Multiple joint contractures, Cardiomyopathy, Ventricular septal defect	ORPHA:33364
Fanconi Anemia	Arteriovenous malformation, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Abnormality of the ...	ORPHA:84
Castleman Disease	Jaundice, Restrictive cardiomyopathy	ORPHA:160
Koolen-De Vries Syndrome Due To A Point Mutation	Cardiomyopathy, Abnormal heart morphology, Hand muscle atrophy, Ventricular septal defect, Bicusp...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Cardiomyopathy, Abnormal heart morphology, Hand muscle atrophy, Ventricular septal defect, Bicusp...	ORPHA:363958
Osteopathia Striata With Cranial Sclerosis	Fibular aplasia, Micrognathia, Fibular hypoplasia, Arachnodactyly, Talipes equinovarus, Paranasal...	OMIM:300373
Hermansky-Pudlak Syndrome	Epistaxis, Gastrointestinal hemorrhage, Cardiomyopathy	ORPHA:79430
Williams Syndrome	Type II diabetes mellitus, Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect...	ORPHA:904
Wiedemann-Rautenstrauch Syndrome	Camptodactyly of finger, Prominent scalp veins, Type II diabetes mellitus, Hepatic steatosis, Dys...	ORPHA:3455
Beckwith-Wiedemann Syndrome	Abnormal pancreas morphology, Hypoglycemia, Exocrine pancreatic insufficiency, Hypertrophic cardi...	ORPHA:116
Leopard Syndrome 1	Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch block, Complete a...	OMIM:151100
Charge Syndrome	Bifid femur, Short thumb, Micrognathia, Down-sloping shoulders, Hand polydactyly, Absent tibia, H...	OMIM:214800
Costello Syndrome	Hypoglycemia, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Arrh...	OMIM:218040
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure	ORPHA:508542
Simpson-Golabi-Behmel Syndrome, Type 1	Total anomalous pulmonary venous return, Polysplenia, Cardiomyopathy, Diastasis recti, Splenomega...	OMIM:312870
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Flexion contracture, Hepatic steatosis	OMIM:619321
Mitochondrial Complex I Deficiency, Nuclear Type 2	Hypertrophic cardiomyopathy	OMIM:618222
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Highly arched eyebrow, Small hand, Hypoplasia of proximal radius, Facial hirsutism, Long eyelashe...	ORPHA:444077
Microphthalmia With Linear Skin Defects Syndrome	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Congenital diaphrag...	ORPHA:2556
Yunis-Varon Syndrome	Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Ventricular septal defect, Cardiomega...	ORPHA:3472
17Q11 Microdeletion Syndrome	Abnormal heart morphology, Hypertrophic cardiomyopathy, Dilatation of the cerebral artery, Abnorm...	ORPHA:97685
Alström Syndrome	Hepatosplenomegaly, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Cirrhosis, He...	ORPHA:64
Camurati-Engelmann Disease	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Facial palsy	ORPHA:1328
Noonan Syndrome 1	Hypertrophic cardiomyopathy, Ventricular septal defect, Coarctation of aorta, Atrial septal defec...	OMIM:163950
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal heart morphology, Hypertrophic cardiomyopathy, Mitral regurgitation, Mitral valve prolap...	ORPHA:363700
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cyst of the ductus choledochus, Patent ductus arteriosus, Atrial septal defect, Cardiomyopathy	ORPHA:480880
Pmm2-Cdg	Insulin resistance, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hy...	ORPHA:79318
Yunis-Varon Syndrome	Cardiomyopathy, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Pulmonary a...	OMIM:216340

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 Acadm

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 Acadm.

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

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MGI Allele	Allele Type	Produced
Acadm^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Acadm^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Acadm^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Acadm^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Acadm^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Acadm^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Acadm MGI:87867

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

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Adult LacZ

Human diseases caused by Acadm mutations

Histopathology

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Access Data Release 21.1 Data