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Gene: Slc25a4 MGI:1353495

Gene Summary

Name:

solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4

Synonyms:

adenine nucleotide translocase-1, Ant1

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
increased heart weight	Slc25a4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.37×10^-14
increased circulating calcium level	Slc25a4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	6.38×10^-25
increased blood urea nitrogen level	Slc25a4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.31×10^-05
increased circulating alkaline phosphatase level	Slc25a4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.56×10^-05
improved glucose tolerance	Slc25a4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.98×10^-11
decreased circulating chloride level	Slc25a4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.10×10^-06
increased circulating insulin level	Slc25a4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	9.14×10^-06
fusion of vertebral arches	Slc25a4^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	9.17×10^-06

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Legacy Phenotype Associated Images

Slc25a4^{tm1a(EUCOMM)Wtsi}
body, WT, Female, WTSI

Slc25a4^{tm1a(EUCOMM)Wtsi}
head, WT, Female, WTSI

Slc25a4^{tm1a(EUCOMM)Wtsi}
body, WT, Female, WTSI

Slc25a4^{tm1a(EUCOMM)Wtsi}
WT, Female, WTSI

Slc25a4^{tm1a(EUCOMM)Wtsi}
forearm, WT, Female, WTSI

View all 130 images

Slc25a4^{tm1a(EUCOMM)Wtsi}
back skin, HOM, Female, WTSI

Slc25a4^{tm1a(EUCOMM)Wtsi}
corneal vascularization, HOM, Female, WTSI

Human diseases caused by Slc25a4 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 Slc25a4 (5 diseases)
Human diseases predicted to be associated with Slc25a4 (820 diseases)

The table below shows human diseases associated to Slc25a4 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy, Hypertrophic cardiomyopathy	ORPHA:1369
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy	OMIM:609283
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, EMG: myopathic ab...	OMIM:615418
Autosomal Dominant Progressive External Ophthalmoplegia	Facial palsy, Quadriceps muscle weakness, Dilated cardiomyopathy, Ragged-red muscle fibers, Limb ...	ORPHA:254892
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Hypertrophic cardiomyopathy	OMIM:617184

The table below shows human diseases predicted to be associated to Slc25a4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ulna Metaphyseal Dysplasia Syndrome	Delayed skeletal maturation, Abnormality of the vertebral column, Wrist pain, Hypercalcemia	OMIM:191420
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Adamantinoma	Pathologic fracture, Bone pain, Hypercalcemia	ORPHA:55881
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Hyperinsulinemic Hypoglycemia, Familial, 6	Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells, Hypoglycemic seizures, ...	OMIM:606762
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy...	ORPHA:603
Blue Diaper Syndrome	Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased proinsul...	ORPHA:94086
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d...	OMIM:609115
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype...	ORPHA:35878
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower...	OMIM:617030
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Hyperparathyroidism 4	Osteopenia, Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia	OMIM:617343
Carnitine Deficiency, Myopathic	Myopathy, Reduced muscle carnitine level	OMIM:212160
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulat...	OMIM:617872
Hypoparathyroidism, Familial Isolated, 2	Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, Hypocalcemic se...	OMIM:618883
Hyperparathyroidism 1	Primary hyperparathyroidism, Hypercalcemia	OMIM:145000
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab...	ORPHA:324575
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy, Asymmetric septal hypertrophy	OMIM:212130
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia, Abnormal heart morphology	DECIPHER:16
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Hypoketotic hypoglycemi...	ORPHA:276580
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Increased circula...	OMIM:214700
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles	OMIM:609500
Myopathy, Myofibrillar, 3	Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus...	OMIM:609200
Parathyroid Carcinoma	Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia	OMIM:608266
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fatty acid leve...	ORPHA:276575
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Delayed skeletal maturation, Elevated circulating thyroid-stimulating hormone concentration, Abno...	ORPHA:171706
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy	OMIM:208100
Familial Isolated Hyperparathyroidism	Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone ...	ORPHA:99879
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Spin...	OMIM:615883
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ...	ORPHA:411593
Bethlem Myopathy 1	Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A...	OMIM:158810
Inclusion Body Myositis	Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red...	ORPHA:611
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath...	OMIM:203330
Nonaka Myopathy	Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu...	OMIM:605820
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:256450
Nemaline Myopathy 6	Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy	OMIM:609273
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen	OMIM:620085
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus	ORPHA:71529
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia, Hyperinsulinemia, Hyperglycemia	ORPHA:329249
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:601820
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resistance, Hepatosp...	OMIM:612526
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Gout, Increased LDL cholesterol c...	OMIM:610947
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614495
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Par...	OMIM:617994
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H...	ORPHA:178464
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia, Genu ...	OMIM:619073
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Joint laxity, Diabetes mellitus, Short neck, Osteoporosis, Delayed thelarche, Scoliosis, Hyperins...	OMIM:616033
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia, Osteopenia, Increased insulin like growth factor binding protein acid l...	OMIM:619489
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Hypercalcemia, Adrenal hypoplasia, Decreased response to growth hormone stimulation t...	OMIM:614732
Fingerprint Body Myopathy	Myopathy	OMIM:305550
Batten-Turner Congenital Myopathy	Myopathy	OMIM:255300
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Hypercalcemia, Parathyroid hyperplasia, Bone pain, Rickets, Elevated circula...	OMIM:612089
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism	OMIM:613090
Acetyl-Coa Carboxylase Deficiency	Myopathy	OMIM:613933
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum leptin	OMIM:617885
Klhl9-Related Early-Onset Distal Myopathy	Ankle flexion contracture, Intrinsic hand muscle atrophy, Abnormality of the calf musculature, Am...	ORPHA:399081
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating free fatty acid...	ORPHA:276556
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Scapular winging, Calf muscle pseudohypertrophy, Centrally nucleated skeletal muscle fibers, Scap...	OMIM:608358
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi...	OMIM:620386
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Myopathy	ORPHA:88635
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:604765
Thymic Neuroendocrine Tumor	Osteopenia, Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm o...	ORPHA:97289
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w...	OMIM:619216
Myopathy, Myofibrillar, 5	Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting	OMIM:609524
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614496
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans	Myopathy, Scapulohumeral muscular dystrophy	OMIM:160570
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista...	OMIM:604367
Mitochondrial Myopathy With Diabetes	Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or...	OMIM:500002
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Inclusion Body Myositis	Inflammatory myopathy, Rimmed vacuoles	OMIM:147421
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hyperparathyroidism, Hypercalcemia	ORPHA:2668
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne...	OMIM:615424
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemi...	OMIM:601678
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Myopathy	ORPHA:206599
Plin1-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Hyperinsulinemia, Abnormal ...	ORPHA:280356
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Delayed skeletal maturation, Reduced bone mineral density, Hypocalcemia	ORPHA:172
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Myopathy, Distal, With Anterior Tibial Onset	Myopathy	OMIM:606768
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy...	OMIM:612999
Hypercalcemia, Infantile, 1	Hypercalcemia, Decreased circulating parathyroid hormone level	OMIM:143880
Interstitial Nephritis, Karyomegalic	Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Hypercalcemia	ORPHA:2123
Congenital Myopathy With Myasthenic-Like Onset	Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Type 1 muscle fiber pred...	ORPHA:424107
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Accelerated skeleta...	ORPHA:66628
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Hypercalcemia, Fractures of the long bones, Bone pain, O...	OMIM:602080
Adult-Onset Nemaline Myopathy	Dilated cardiomyopathy, Flexion contracture, Increased muscle lipid content, Upper limb muscle we...	ORPHA:171442
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hyperparathyroidism, Hypercalcemia	OMIM:239199
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Insulin resistance, Diabetes mellitus, Hyperinsulinemia	ORPHA:79084
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Accelerated skeletal maturation, Premature adrenarche, Hypo...	ORPHA:90794
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Dilated cardiomyopathy,...	OMIM:608099
Ethanolaminosis	Cardiomegaly	OMIM:227150
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne...	ORPHA:598
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalce...	OMIM:146200
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Accelerated skeleta...	ORPHA:179494
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Abnormal sacrum morphology, Fused cervical vertebrae, Type II diabetes mellitus, Scoliosis, Thora...	ORPHA:1436
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Hypercalcemia, Hurthle cell thyroid adenoma, Parathyroid carcinoma, Parathyr...	OMIM:145001
Hypophosphatasia	Recurrent fractures, Hypercalcemia, Craniosynostosis	ORPHA:436
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Cardiomegaly, Craniosynostosis, Congenital hypothyroidism	ORPHA:88643
Congenital Disorder Of Glycosylation, Type Iid	Myopathy, Decreased muscle mass	OMIM:607091
Orthostatic Hypotension 1	Reduced circulating prolactin concentration, Neonatal hypoglycemia, Increased blood urea nitrogen...	OMIM:223360
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy	OMIM:255100
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle...	OMIM:612937
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath...	OMIM:603233
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Myopathy	ORPHA:2579
Bethlem Myopathy 2	Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter	OMIM:616471
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet...	ORPHA:79644
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Prominent metopic ridge, Glucose intolerance, Fused cervical vertebrae, Scoliosis, Thoracic hemiv...	OMIM:309620
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Myopathy	OMIM:613076
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Spinal instability	OMIM:251250
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Oculoskeletodental Syndrome	Hypercalcemia, Hyperlordosis, Delayed skeletal maturation, Thoracic kyphosis, Hypocalcemia, Scoli...	ORPHA:557003
Scapuloperoneal Myopathy, X-Linked Dominant	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,...	OMIM:300695
Merrf	Myopathy, Ragged-red muscle fibers	ORPHA:551
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalcemia, Splenomegaly, Delayed skeletal maturation, Elbow flexion contracture...	OMIM:618440
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc...	ORPHA:266
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter	ORPHA:1878
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T...	OMIM:616313
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Recurrent fractures, Splenomegaly, Primary hyperparathyr...	OMIM:239200
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Hypercalcem...	ORPHA:199299
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Vertebral clefting, Increased sus...	OMIM:241500
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia	OMIM:606528
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce...	OMIM:606069
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe...	OMIM:300580
Myopathy, Distal, Tateyama Type	Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ...	OMIM:614321
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased variability in...	ORPHA:86812
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroid...	ORPHA:2239
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Myopathy,...	OMIM:167320
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:2597
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Hyperinsulinemia	OMIM:618406
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Diabetes mellitus, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen	OMIM:613845
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,...	ORPHA:276608
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency	Myopathy	OMIM:616314
Heart-Hand Syndrome, Slovenian Type	Myopathy, Dilated cardiomyopathy	OMIM:610140
Oculopharyngeal Muscular Dystrophy	Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology	ORPHA:270
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl...	OMIM:618129
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi...	OMIM:277300
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ...	ORPHA:210110
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy...	OMIM:608807
Infantile Myofibromatosis	Hypercalcemia, Abnormal sacrum morphology, Limitation of joint mobility, Osteolysis, Chondrocalci...	ORPHA:2591
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Hypocalciuric Hypercalcemia, Familial, Type Ii	Primary hyperparathyroidism, Hypermagnesemia, Hypercalcemia, Chondrocalcinosis	OMIM:145981
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp...	OMIM:610017
Myopathy, Tubular Aggregate, 1	Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi...	OMIM:160565
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Paternal Uniparental Disomy Of Chromosome 1	Recurrent fractures, Hypercalcemia, Craniosynostosis, Increased blood urea nitrogen, Delayed pube...	ORPHA:251004
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen...	OMIM:619326
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	Facial palsy, Quadriceps muscle atrophy, Calf muscle hypertrophy, Shoulder girdle muscle weakness...	OMIM:611307
Muscle Filaminopathy	Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m...	ORPHA:171445
Pseudohypoparathyroidism Type 2	Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone...	ORPHA:94090
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Myopathy, Ragged-red muscle fibers	OMIM:545000
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Increased variability in musc...	OMIM:611705
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Delayed skeletal maturation, Gonadotropin ...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Delayed skeletal maturation, Gonadotropin ...	ORPHA:71526
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone c...	OMIM:131100
Glutamate-Cysteine Ligase Deficiency	Myopathy, Aminoaciduria, Hepatosplenomegaly	ORPHA:33574
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
2P21 Microdeletion Syndrome	Hypogonadism, Hypoglycemia, Hypocalcemia	ORPHA:163693
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu...	ORPHA:59135
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Shoulder flexion contracture, A...	OMIM:619566
Galactokinase Deficiency	Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly,...	ORPHA:79237
Hypocalcemia, Autosomal Dominant 1	Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, Increased circul...	OMIM:601198
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy	ORPHA:366
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Hyper...	OMIM:241200
Bartter Syndrome Type 4	Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Increased circula...	ORPHA:89938
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive...	ORPHA:231111
Oculopharyngodistal Myopathy 2	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of...	OMIM:618940
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk...	OMIM:254110
Myasthenic Syndrome, Congenital, 25, Presynaptic	Myopathy, Flexion contracture, Generalized amyotrophy	OMIM:618323
Estrogen Resistance	Increased circulating osteocalcin level, Osteopenia, Impaired glucose tolerance, Delayed skeletal...	OMIM:615363
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism	OMIM:602522
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Rigid Spine Syndrome	Hip contracture, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Myop...	ORPHA:97244
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglyce...	ORPHA:2298
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Vertebral segmentation defect, Hypoplasti...	OMIM:618845
Duane Anomaly-Myopathy-Scoliosis Syndrome	Myopathy	ORPHA:50817
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Dilated cardiomyopathy, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I...	ORPHA:276435
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Myopathy	OMIM:230450
Nemaline Myopathy 7	Fatty replacement of skeletal muscle, Knee flexion contracture, Shoulder girdle muscle weakness, ...	OMIM:610687
Mitochondrial Myopathy, Lethal, Infantile	Myopathy	OMIM:551000
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Hypocalciuric Hypercalcemia, Familial, Type I	Parathyroid adenoma, Hyperparathyroidism, Hypermagnesemia, Hypercalcemia	OMIM:145980
Familial Isolated Dilated Cardiomyopathy	Myopathy, Dilated cardiomyopathy	ORPHA:154
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Pancreatic islet-c...	ORPHA:263455
Hypertriglyceridemia 1	Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Congenital Myopathy 4B, Autosomal Recessive	Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, EMG: myopathic abnormalities,...	OMIM:609284
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia, Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Bone pain, Hypophospha...	OMIM:600740
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi...	OMIM:179800
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic...	OMIM:608423
Childhood-Onset Nemaline Myopathy	Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at...	ORPHA:171439
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, E...	OMIM:300696
Monosomy 13Q34	Hypercalcemia, Insulin resistance, Pulmonic stenosis, Common atrium, Osteochondrosis	ORPHA:96168
Zebra Body Myopathy	Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr...	ORPHA:97240
Addison Disease	Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Hypercalcem...	ORPHA:85138
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Increased muscle lipid content, Myopathy, Cardiomyopathy	OMIM:610717
Congenital Myopathy 6 With Ophthalmoplegia	Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ...	OMIM:605637
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o...	ORPHA:399086
Fibrous Dysplasia Of Bone	Hyperthyroidism, Precocious puberty in females, Hypercalcemia, Elevated circulating growth hormon...	ORPHA:249
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ...	OMIM:609452
Distal Myotilinopathy	Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn...	ORPHA:98911
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Alpha-Heavy Chain Disease	Splenomegaly, Hepatomegaly, Hypocalcemia	ORPHA:100025
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers	OMIM:618992
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Ab...	ORPHA:99886
Myopathy, Myofibrillar, 2	Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati...	OMIM:608810
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperlordosis, Kyphosis, Delayed skeletal maturation, Hyperinsuli...	ORPHA:3085
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber...	OMIM:605355
Central Core Disease	Multiple joint contractures, Mitral valve prolapse, Myopathy, Type 1 muscle fiber predominance, P...	ORPHA:597
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo...	OMIM:600649
Metaphyseal Chondrodysplasia, Jansen Type	Hypoparathyroidism, Osteopenia, Hip contracture, Hypercalcemia, Knee flexion contracture, Hypopho...	OMIM:156400
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Precocious puberty in females, Diabetes mellitus, Accelerated...	ORPHA:528
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Hypercalcemia, Paraganglioma	ORPHA:94080
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes...	OMIM:616924
Estrogen Resistance Syndrome	Osteopenia, Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of sec...	ORPHA:785
Acute Adrenal Insufficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Adrenal hypoplas...	ORPHA:95409
Pseudopseudohypoparathyroidism	Abnormality of the endocrine system, Hyperphosphatemia, Elevated circulating parathyroid hormone ...	ORPHA:79445
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic...	OMIM:262190
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ac...	OMIM:607155
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlor...	OMIM:606612
Autosomal Recessive Kenny-Caffey Syndrome	Delayed cranial suture closure, Delayed skeletal maturation, Decreased skull ossification, Hypoca...	ORPHA:93324
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia, Abnormalit...	OMIM:307500
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Limb muscle weakness, Myopathy, Type 1 muscle fiber predominance, Type 2 m...	OMIM:603034
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Hepatomegaly, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen...	ORPHA:254864
Myopathy And Diabetes Mellitus	Distal lower limb amyotrophy, Achilles tendon contracture, Proximal amyotrophy, Skeletal myopathy...	ORPHA:2596
Creatine Phosphokinase, Elevated Serum	Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa...	OMIM:123320
Pseudohypoparathyroidism, Type Ic	Short neck, Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, Pseudoh...	OMIM:612462
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi...	OMIM:618469
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy, Hypertrophic cardiomyopathy	ORPHA:1369
Mitochondrial Complex I Deficiency, Nuclear Type 14	Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy	OMIM:618236
X-Linked Sideroblastic Anemia	Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis	ORPHA:75563
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa...	ORPHA:71212
Dna2-Related Mitochondrial Dna Deletion Syndrome	Limb-girdle muscle weakness, Multiple joint contractures, Myopathy	ORPHA:352470
Timothy Syndrome	Hypoglycemia, Ventricular septal defect, Cardiomegaly, Hypothyroidism, Hypocalcemia, Tetralogy of...	OMIM:601005
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Bone pain...	ORPHA:29073
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Mitochondrial Complex I Deficiency, Nuclear Type 15	Myopathy, Hypertrophic cardiomyopathy, Flexion contracture	OMIM:618237
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re...	ORPHA:2457
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hepatomegaly, Osteopenia, Impaired glucose tolerance, Joint stiffness, Hyperlipidemia...	OMIM:248370
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter	OMIM:616816
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ...	OMIM:310440
Mitochondrial Complex I Deficiency, Nuclear Type 25	Myopathy, Nemaline bodies	OMIM:618246
Albers-Schönberg Osteopetrosis	Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized oste...	ORPHA:53
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia	ORPHA:363400
Obesity And Hypopigmentation	Hyperinsulinemia	OMIM:620195
Leber Hereditary Optic Neuropathy	Myopathy	ORPHA:104
Hypocalcemic Vitamin D-Resistant Rickets	Joint dislocation, Hyperparathyroidism, Osteomalacia, Recurrent fractures, Bone pain, Osteolysis,...	ORPHA:93160
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia	ORPHA:369873
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration...	ORPHA:230
Pheochromocytoma--Islet Cell Tumor Syndrome	Pheochromocytoma, Hypercalcemia	OMIM:171420
Glycogen Storage Disease Iii	Ventricular hypertrophy, Hepatomegaly, Myopathy, Distal amyotrophy, Cardiomyopathy	OMIM:232400
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy	OMIM:609283
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Myopathy, Hypertrophic cardiomyopathy	ORPHA:91130
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ...	OMIM:603689
Nemaline Myopathy 8	Myofibrillar myopathy, Flexion contracture, Facial palsy, Nemaline bodies	OMIM:615348
Brachydactyly, Type B1	Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect, Thoracolumbar scoliosis, Hemiver...	OMIM:113000
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618838
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Vertebral fusion, Hip contracture, Ventricular septal defect, Elbow contracture, Multiple pterygi...	OMIM:178110
Spinal Muscular Atrophy, X-Linked 2	Multiple joint contractures, Spinal muscular atrophy, Facial palsy, Flexion contracture, Myopathy...	OMIM:301830
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Hyperparathyroidism, Hypercalcemia, Pituitary null cell adenoma...	ORPHA:913
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Vipoma	Hepatomegaly, Diabetes mellitus, Hypercalcemia, Follicular thyroid carcinoma, Elevated circulatin...	ORPHA:97282
Alstrom Syndrome	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Hypergonadotropic hy...	OMIM:203800
Mpi-Cdg	Hepatomegaly, Hypothyroidism, Hypoalbuminemia, Hyperinsulinemic hypoglycemia	ORPHA:79319
Hemochromatosis, Type 1	Arthropathy, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Increa...	OMIM:235200
Neuropathy, Ataxia, And Retinitis Pigmentosa	Myopathy	OMIM:551500
Myopathy, Myofibrillar, 6	Scapular winging, Facial palsy, Myofibrillar myopathy, Knee flexion contracture, EMG: myopathic a...	OMIM:612954
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Flexion contracture, Gluco...	OMIM:608612
Isolated Glycerol Kinase Deficiency	Myopathy	ORPHA:408
Congenital Myasthenic Syndromes With Glycosylation Defect	Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness...	ORPHA:353327
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy	OMIM:605809
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Cardiomegaly, Increased variability in muscle fiber ...	OMIM:618654
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentratio...	OMIM:613327
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Short neck, Abnormal sacrum morphology, Abnormality of the vertebral c...	ORPHA:2345
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:...	OMIM:253601
Retinitis Pigmentosa	Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus	ORPHA:791
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f...	OMIM:618823
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Abnormal circulating insuli...	ORPHA:293964
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle muscle weakness,...	OMIM:615156
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Cardiomyopathy, Fusion of midcervical facet joints, Cervical vertebral bodies with decreased ante...	OMIM:606842
Short Chain Acyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Myopathy	ORPHA:26792
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ...	OMIM:310300
Somatostatinoma	Hepatomegaly, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone concentration...	ORPHA:97283
Familial Isolated Hypoparathyroidism	Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypo...	ORPHA:2238
Adducted Thumbs Syndrome	Myopathy, Arthrogryposis multiplex congenita	OMIM:201550
Muscular Dystrophy, Barnes Type	Myopathy, Muscular dystrophy	OMIM:158800
Malignant Hyperthermia, Susceptibility To, 2	Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind...	OMIM:154275
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae	OMIM:122600
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 verteb...	OMIM:214300
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f...	OMIM:615422
Mitochondrial Complex I Deficiency, Nuclear Type 21	Myopathy, Ragged-red muscle fibers	OMIM:618242
Congenital Muscular Dystrophy Without Intellectual Disability	Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co...	ORPHA:370980
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers	OMIM:540000
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Hypertrophic cardiomyopathy, Myopathy	OMIM:618234
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Flexion...	ORPHA:272
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Cardiomyopathy, M...	ORPHA:254886
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia...	ORPHA:119
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Distal symphalangi...	OMIM:154230
Acquired Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Accelerated skeletal maturation, Insulin-resistant diabetes m...	ORPHA:79086
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Dislocation of toes, Congenital hip dislocation, Left atrial enlargement...	OMIM:300280
Malignant Hyperthermia, Susceptibility To, 3	Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind...	OMIM:154276
Rabson-Mendenhall Syndrome	Increased pineal volume, Atrial septal defect, Enlarged ovaries, Impaired glucose tolerance, Vent...	ORPHA:769
Autoimmune Hypoparathyroidism	Increased bone mineral density, Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, H...	ORPHA:36913
Myopathy, Distal, 3	Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han...	OMIM:610099
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Dilated c...	ORPHA:98855
X-Linked Immunoneurologic Disorder	Myopathy	ORPHA:2571
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Rickets, Bone pain, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Enlargement of the ankles, Recurrent fractures, Delayed epiphyseal ossification, Enlargement of t...	OMIM:264700
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w...	ORPHA:353
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Hyperinsulinemia	ORPHA:66518
Perlman Syndrome	Hepatomegaly, Hyperinsulinemia	ORPHA:2849
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Incr...	ORPHA:26793
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Skeletal muscle atrophy, Myopathy	ORPHA:300179
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Precocious...	ORPHA:369837
Nemaline Myopathy 2	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Thenar muscle atrophy, Fatty replacement ...	OMIM:256030
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Abnormal heart morphology, Scoliosis, Thoracic hemivertebrae, Diabetes ...	ORPHA:1445
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Myocarditis, Proximal muscle weakness in low...	ORPHA:206569
Kenny-Caffey Syndrome, Type 1	Delayed closure of the anterior fontanelle, Delayed skeletal maturation, Hypocalcemia, Hypomagnes...	OMIM:244460
Mitochondrial Myopathy And Sideroblastic Anemia	Myopathy, Generalized limb muscle atrophy	ORPHA:2598
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Dilated c...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Dilated c...	ORPHA:98853
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Enlargement of the ankles, Recurrent fractures, Delayed epiphyseal ossification, Enlargement of t...	OMIM:600081
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Complete atrioventricular canal defect, Kyphosis, Hypercalcemia, Scoliosis	ORPHA:476126
Ppoma	Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concentration, Abnormality of th...	ORPHA:97278
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Skeletal muscle hypertrophy, Macroglossia, Myopathy	ORPHA:2349
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib...	OMIM:619178
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta...	ORPHA:329478
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion	Abnormal circulating calcium concentration, Abnormality of the parathyroid gland, Secondary hyper...	ORPHA:140286
Hypocalcemic Vitamin D-Dependent Rickets	Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Delayed epiphyseal ossification, E...	ORPHA:289157
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Flexion contracture, Myopathy	ORPHA:157973
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromoc...	ORPHA:276621
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Cardiomyopathy, Facial diplegia, Type...	ORPHA:171433
Pseudohypoparathyroidism Type 1B	Calcinosis, Increased bone mineral density, Decreased response to growth hormone stimulation test...	ORPHA:94089
Kbg Syndrome	Vertebral fusion, Persistent open anterior fontanelle, Short neck, Congenital malformation of the...	ORPHA:2332
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Chondrocalcinosis, Hypocalc...	ORPHA:405
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Hypophosphatasia, Childhood	Myopathy	OMIM:241510
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Myopathy, Reduced muscle carnitine level, Endocardial...	OMIM:212140
Hereditary Renal Hypouricemia	Back pain, Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu...	ORPHA:98863
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Increased bone mineral density, Sandwich appearance of vertebral bodies, Osteomyeli...	OMIM:259700
Diaphanospondylodysostosis	Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ...	ORPHA:66637
Hypokalemic Periodic Paralysis, Type 2	Myopathy	OMIM:613345
Muscular Dystrophy, Congenital, Megaconial Type	Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endomysial connecti...	OMIM:602541
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:616511
Glucagonoma	Hepatomegaly, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone concentration...	ORPHA:97280
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Primary hyperparathyroidism, Bone pain, Osteoporosis, Abnormal parathyroid morphol...	ORPHA:99880
Hypotonia-Cystinuria Syndrome	Neonatal hypoglycemia, Hypergonadotropic hypogonadism, Hypocalcemia, Decreased response to growth...	OMIM:606407
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Dextrocardia, Block vertebrae, Short neck...	OMIM:613686
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari...	OMIM:255320
Myopathy, Myofibrillar, 1	Facial palsy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Restrictive cardiomyopathy, EM...	OMIM:601419
Myopathy Due To Myoadenylate Deaminase Deficiency	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy	OMIM:615511
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Aminoaciduria, Generalized amyot...	OMIM:609560
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck	OMIM:244600
Grfoma	Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concentration, Neoplasm of the t...	ORPHA:97261
Parathyroid Carcinoma	Hypercalcemia, Primary hyperparathyroidism, Bone pain, Osteoporosis, Abnormal parathyroid morphol...	ORPHA:143
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Verheij Syndrome	Joint laxity, Vertebral fusion, Ventricular septal defect, Short neck, Hemivertebrae, Hip disloca...	OMIM:615583
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Abnormal circulating aldos...	OMIM:300539
Congenital Myopathy 16	EMG: myopathic abnormalities, Scapular winging, Flexion contracture	OMIM:618524
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ...	OMIM:620249
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromoc...	ORPHA:29072
Multiple Endocrine Neoplasia Type 2	Joint laxity, Paraganglioma of head and neck, Hypercalcemia, Thyroid C cell hyperplasia, Hyperlor...	ORPHA:653
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ...	OMIM:241410
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Reduced bone mineral density, Abnormal bone ossification, Abnormal vertebral morpholo...	ORPHA:93315
Symptomatic Form Of Hfe-Related Hemochromatosis	Arthropathy, Decreased serum testosterone concentration, Hepatomegaly, Diabetes mellitus, Hypogon...	ORPHA:465508
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T...	OMIM:255120
Myofibrillar Myopathy 10	Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Left ventricular ...	OMIM:619040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy...	OMIM:608840
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Skeletal muscle atrophy, Myopathy, Spinal muscular atrophy, Weakness of facial musculature	ORPHA:254875
Glycogen Storage Disease X	Myopathy, Rhabdomyolysis	OMIM:261670
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur...	ORPHA:69076
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont...	OMIM:312150
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae	ORPHA:313892
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hypoalbuminemia, Hyperinsulinemic hypoglycemia	OMIM:602579
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Myopathy, Increased variability in muscle fiber diameter	OMIM:125250
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E...	ORPHA:397744
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic c...	OMIM:614702
Acquired Partial Lipodystrophy	Myopathy	ORPHA:79087
Congenital Myopathy 3 With Rigid Spine	Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil...	OMIM:602771
Refractory Celiac Disease	Hypomagnesemia, Osteoporosis, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Congenital Myopathy 10A, Severe Variant	Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib...	OMIM:614399
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop...	OMIM:255160
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr...	ORPHA:254361
Congenital Myopathy 2A, Typical, Autosomal Dominant	Facial palsy, Dilated cardiomyopathy, Limb muscle weakness, Type 1 muscle fiber predominance, Art...	OMIM:161800
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Cardiomyopathy, Flexion contracture, Myopathy, Nemaline bodies	OMIM:616549
Pheochromocytoma	Pheochromocytoma, Hypercalcemia	OMIM:171300
Alkaptonuria	Arthropathy, Vertebral fusion, Mitral valve calcification, Low back pain, Aortic valve calcificat...	OMIM:203500
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex...	ORPHA:1145
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Hypothyroidism, Hypocalcemia, Mitral valve prolapse	ORPHA:1563
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Lower limb muscle weakness, Muscular dystrophy, Myopathy	OMIM:615980
Gorlin Syndrome	Vertebral fusion, Hypogonadotropic hypogonadism, Hemivertebrae, Vertebral wedging, Scoliosis	ORPHA:377
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Limb muscle weakness, In...	ORPHA:486815
Ring Chromosome 10 Syndrome	Hypocalcemia, Short neck	ORPHA:1438
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont...	OMIM:253290
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina...	ORPHA:98902
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Neuropathic arthropathy, Elevated circulating creatinine concentration, Scoliosis, Increased bloo...	OMIM:223900
Oculopharyngodistal Myopathy 4	Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ...	OMIM:619790
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis	ORPHA:42
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Ragged-red muscle fibers, Dilated cardiomyopathy, Myopathy, Generalized amyotrophy, Weakness of f...	ORPHA:352447
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Donohue Syndrome	Precocious puberty, Delayed skeletal maturation, Hyperinsulinemia, Pancreatic islet-cell hyperpla...	OMIM:246200
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Insulin-resistant di...	OMIM:151660
Double Outlet Right Ventricle	Hypoparathyroidism, Ventricular septal defect, Double outlet right ventricle, Hypoplastic left he...	ORPHA:3426
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Elevated circulating thyroid-stimulatin...	OMIM:618183
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S...	ORPHA:57
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles...	ORPHA:98913
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn...	ORPHA:75840
Kniest Dysplasia	Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De...	ORPHA:485
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr...	ORPHA:90650
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Osteomyelitis, Elevated circulating C-reactive protein concentration, S...	OMIM:612852
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatomegaly, Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy, Muscular dy...	ORPHA:369840
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Upper limb muscle weakness, Distal amyotrophy, Lower limb muscle weakness, EMG: myopathic abnorma...	ORPHA:99939
Sengers Syndrome	Myopathy, Hypertrophic cardiomyopathy	OMIM:212350
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodi...	ORPHA:2916
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Oncogenic Osteomalacia	Bone pain, Increased susceptibility to fractures, Hypocalcemia, Hypophosphatemia, Pathologic frac...	ORPHA:352540
Williams Syndrome	Osteopenia, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Cardiomega...	ORPHA:904
Cockayne Syndrome Type 1	Hepatomegaly, Foot joint contracture, Scoliosis, Increased blood urea nitrogen, Male hypogonadism	ORPHA:90321
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Skeletal muscle atrophy, Knee flexion contracture, Distal amyotroph...	ORPHA:3208
Spinocerebellar Ataxia With Epilepsy	Myopathy	ORPHA:254881
Typical Nemaline Myopathy	Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f...	ORPHA:171436
Familial Congenital Mirror Movements	Fused cervical vertebrae, Hypogonadotropic hypogonadism	ORPHA:238722
Autosomal Dominant Optic Atrophy Plus Syndrome	Cardiomyopathy, Limb-girdle muscle weakness, Myopathy	ORPHA:1215
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion contracture, ...	ORPHA:178148
Thrombotic Thrombocytopenic Purpura, Hereditary	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
Pseudohypoparathyroidism, Type Ia	Short neck, Osteoporosis, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parat...	OMIM:103580
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Di...	OMIM:618476
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat...	ORPHA:300373
Aarskog-Scott Syndrome	Genu recurvatum, Camptodactyly of finger, Short neck, Joint hyperflexibility, Abnormal vertebral ...	ORPHA:915
Frontometaphyseal Dysplasia 1	Interphalangeal joint contracture of finger, Limited elbow movement, Ankle flexion contracture, C...	OMIM:305620
Hypokalemic Periodic Paralysis, Type 1	Myopathy	OMIM:170400
Colchicine Poisoning	Hyponatremia, Myocarditis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypoc...	ORPHA:31824
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Skeletal muscle atrophy, Hepatomegaly, Dilated cardiomyopathy, Flexion contracture, Abnormal musc...	ORPHA:367
Bethlem Myopathy	Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ...	ORPHA:610
Igg4-Related Retroperitoneal Fibrosis	Low back pain, Elevated circulating C-reactive protein concentration, Elevated circulating creati...	ORPHA:49041
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum leptin, Accelerated ...	OMIM:269700
Oxoglutaric Aciduria	Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy	ORPHA:31
Sanjad-Sakati Syndrome	Hypoparathyroidism, Patchy osteosclerosis, Delayed skeletal maturation, Spinal canal stenosis, Hy...	ORPHA:2323
Hereditary Leiomyomatosis And Renal Cell Cancer	Uterine leiomyosarcoma, Cutaneous leiomyosarcoma, Decreased fumarate hydratase activity	OMIM:150800
Pseudohypoparathyroidism Type 1C	Calcinosis, Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to...	ORPHA:79444
Caudal Regression Syndrome	Maternal diabetes, Joint stiffness, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodie...	ORPHA:3027
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Delayed skeletal maturation, Elevated circulating creatinine concentr...	ORPHA:411634
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Woodhouse-Sakati Syndrome	Osteopenia, Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, ...	ORPHA:3464
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomegaly, Myopathy, Cardiomyopathy, Left ventricular hypertrophy	OMIM:617713
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
King-Denborough Syndrome	Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom...	OMIM:619542
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Cardiomyopathy, Hypocalcemia, Left ventricular hypertrophy, Hypoketotic hypog...	ORPHA:746
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardio...	OMIM:201475
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Ventricular se...	ORPHA:263297
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating...	ORPHA:453533
Congenital Disorder Of Glycosylation, Type Ig	Patent foramen ovale, Hypoglycemia, Hypocalcemia, Butterfly vertebrae	OMIM:607143
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Arthritis, Hypoalbuminemia, ...	ORPHA:247353
Cholera	Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia	ORPHA:173
Wildervanck Syndrome	Fused cervical vertebrae	OMIM:314600
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myopath...	OMIM:248800
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin, Accelerated skelet...	OMIM:608594
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Hepatomegaly, Myofiber disarray, Myopathy, Increased variability in muscle fiber diameter, Hypert...	OMIM:604377
Leprechaunism	Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyp...	ORPHA:508
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Short neck, Splenomegaly, Hypo...	OMIM:235255
Koolen-De Vries Syndrome	Vertebral fusion, Bicuspid aortic valve, Kyphosis, Hip dislocation, Joint hyperflexibility, Verte...	ORPHA:96169
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Myopathy	ORPHA:166002
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy	ORPHA:369847
Solitary Fibrous Tumor	Low back pain, Hypoglycemia, Reduced C-peptide level, Recurrent hypoglycemia, Hypophosphatemic ri...	ORPHA:2126
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hyperthyroidism, Osteomyelitis, Abnormality of the endocrine system, Splenomegaly, Abnormal blood...	ORPHA:37042
Attrv122I Amyloidosis	Increased circulating NT-proBNP concentration, Cardiomegaly, Spinal canal stenosis, Hypertrophic ...	ORPHA:85451
Primary Intestinal Lymphangiectasia	Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia	ORPHA:90362
X-Linked Agammaglobulinemia	Arthritis, Osteomyelitis, Hypocalcemia	ORPHA:47
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Splenomegaly, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertroph...	ORPHA:2348
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Hepatomegaly, Rhabdomyolysis, Myopathy, Cardiomyopathy	ORPHA:228305
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Splenomegaly, Abnormality of skeletal muscle fiber s...	ORPHA:79083
Phosphoglycerate Kinase 1 Deficiency	Myopathy, Rhabdomyolysis	OMIM:300653
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Oculogastrointestinal Muscular Dystrophy	Abnormal mitral valve morphology, Skeletal muscle atrophy, Myopathy	ORPHA:1876
Klippel-Feil Syndrome 1, Autosomal Dominant	Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Scoliosis, Short neck	OMIM:118100
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Diabetes mellitus, Parathyroid hypoplasia, Abnormal heart morphology, Hypocal...	ORPHA:2237
Larsen Syndrome	Joint laxity, Vertebral fusion, Ventricular septal defect, Cervical kyphosis, Tracheomalacia, Elb...	OMIM:150250
Celiac Disease, Susceptibility To, 1	Osteoporosis, Thyroiditis, Rickets, Hypocalcemia, Delayed puberty, Type I diabetes mellitus	OMIM:212750
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Delayed closure o...	OMIM:127000
Chanarin-Dorfman Syndrome	Hepatomegaly, Myopathy	OMIM:275630
Marinesco-Sjögren Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Myopathy, Muscula...	ORPHA:559
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Gitelman Syndrome	Maternal diabetes, Pericardial effusion, Insulin resistance, Delayed puberty, Hypermagnesemia, Go...	ORPHA:358
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, EMG: myopathic ab...	OMIM:615418
Mcleod Syndrome	Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Rhabdomyolysis, Cardiomyopathy, Myopathy	OMIM:300842
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxity, Osteoporosi...	OMIM:618000
Lateral Meningocele Syndrome	Vertebral fusion, Ventricular septal defect, Bicuspid aortic valve, Short neck, Kyphosis, Scleros...	OMIM:130720
Pseudohypoparathyroidism Type 1A	Calcinosis, Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to...	ORPHA:79443
Williams-Beuren Syndrome	Osteopenia, Joint laxity, Diabetes mellitus, Bicuspid aortic valve, Hypercalcemia, Ventricular se...	OMIM:194050
Atypical Werner Syndrome	Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Hyperglycemia, In...	ORPHA:79474
Bacterial Toxic-Shock Syndrome	Osteomyelitis, Elevated circulating creatine kinase concentration, Myocarditis, Elevated circulat...	ORPHA:36234
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Dilated cardiomyopathy, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia, H...	ORPHA:73224
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck, Hypoplasia of th...	OMIM:272460
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Short neck, Splenomegaly, Hepatosplenomegaly, Hypocalcem...	ORPHA:1655
Myopathy, Centronuclear, 2	Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ...	OMIM:255200
Igg4-Related Thyroid Disease	Nodular goiter, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Thyroidi...	ORPHA:64744
Combined Oxidative Phosphorylation Deficiency 24	Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature	OMIM:616239
Cartilage-Hair Hypoplasia	Hepatomegaly, Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Short neck...	ORPHA:175
Mitochondrial Complex I Deficiency, Nuclear Type 36	Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Mosaic Trisomy 20	Vertebral fusion, Ventricular septal defect, Kyphosis, Dysplastic tricuspid valve, Spinal canal s...	ORPHA:1724
Koolen-De Vries Syndrome	Vertebral fusion, Prominent metopic ridge, Sacral dimple, Ventricular septal defect, Bicuspid aor...	OMIM:610443
Gracile Bone Dysplasia	Decreased skull ossification, Hypocalcemia	OMIM:602361
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Elevated circulating creatine kinase concentration, Limited elbow movement, Hyperlordosis, Cardio...	ORPHA:268
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septa...	OMIM:306955
Wildervanck Syndrome	Fused cervical vertebrae, Short neck	ORPHA:3456
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck	ORPHA:2522
Prader-Willi Syndrome	Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,...	OMIM:176270
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Osteopenia, Congenital hip dislocation, Splenomegaly, Hypokalemia, Hypo...	OMIM:617913
Shashi-Pena Syndrome	Hypoglycemia, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Atrial septal d...	OMIM:617190
Axial Osteomalacia	Myopathy	OMIM:109130
Synaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myopathy, Type 1 m...	ORPHA:98915
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:85329
Autosomal Dominant Optic Atrophy, Classic Form	Skeletal muscle atrophy, Scapular winging, Myopathy, Weakness of facial musculature	ORPHA:98673
Atelis Syndrome 2	Sacral dimple, Kyphosis, Elevated circulating thyroid-stimulating hormone concentration, Hyperins...	OMIM:620185
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Inc...	OMIM:255125
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ...	OMIM:258450
Hyperkalemic Periodic Paralysis	Skeletal muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture, Myopathy	ORPHA:682
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy...	OMIM:600955
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se...	ORPHA:3109
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia...	ORPHA:94093
Acyl-Coa Dehydrogenase 9 Deficiency	EMG: myopathic abnormalities, Myopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:99901
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Lower limb amyotrophy, Myocardial fibr...	OMIM:300257
Sotos Syndrome	Joint laxity, Hip contracture, Sacrococcygeal teratoma, Ventricular septal defect, Hypercalcemia,...	ORPHA:821
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Myopathy, Cardiomyopathy, Shoulder girdle muscle weakness, Increased intramyocellul...	ORPHA:98907
Vocal Cord And Pharyngeal Distal Myopathy	Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ...	ORPHA:600
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur...	OMIM:265000
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect, Hypocalcemia, A...	ORPHA:2306
Immunodeficiency 10	Myopathy	OMIM:612783
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Decreased response to growth hormone stimulation test, Short neck, Hyp...	OMIM:609053
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio...	OMIM:135100
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myopathy, Rhabdomyolysis	ORPHA:713
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Increased bone mineral density, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hyp...	OMIM:259720
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Cystinosis	Myopathy, Aminoaciduria	ORPHA:213
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Cardiomyopathy, Flexion contracture, Myopathy, Weakness of facial musculature	OMIM:201470
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Fatty replacement of skeletal muscle, Cardiomyopathy, Generalized amyotrophy, Increased variabili...	ORPHA:52430
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red...	OMIM:607459
Pearson Syndrome	Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Decreased response to growth hormone stimula...	ORPHA:699
Muscle-Eye-Brain Disease	Myopathy	ORPHA:588
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Myopathy, Cardiomyopathy	OMIM:614922
Lamb-Shaffer Syndrome	Fused cervical vertebrae, Thoracic kyphosis, Scoliosis	ORPHA:530983
Autosomal Dominant Hypocalcemia	Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness	OMIM:112250
Neutral Lipid Storage Myopathy	Hepatomegaly, Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle...	ORPHA:98908
Myotubular Myopathy With Abnormal Genital Development	Myopathy, Centrally nucleated skeletal muscle fibers	OMIM:300219
Mitochondrial Trifunctional Protein Deficiency 1	Rhabdomyolysis, Myopathy, Dilated cardiomyopathy	OMIM:609015
Otopalatodigital Syndrome Type 2	Increased bone mineral density, Abnormal heart valve morphology, Tarsal synostosis, Camptodactyly...	ORPHA:90652
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Abnormality ...	ORPHA:169189
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly	OMIM:617333
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Hepatomegaly, Myopathy	ORPHA:169090
Congenital Myopathy 21 With Early Respiratory Failure	EMG: myopathic abnormalities, Hypertrophic cardiomyopathy	OMIM:620326
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Elbow dislocation, Anterior vertebral fusion, Radioulnar synostosis, Shoulder dislocation, Genu v...	OMIM:171480
Liver Disease, Severe Congenital	Cardiomegaly, Hypocalcemia, Elevated hepatic iron concentration, Atrial septal defect, Patent for...	OMIM:619991
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Scoliosis, Supernumerary vertebrae	OMIM:271520
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Attrv30M Amyloidosis	Cardiomyopathy, Cardiomegaly	ORPHA:85447
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Autosomal Recessive Hypophosphatemic Rickets	Increased bone mineral density, Renal hypophosphatemia, Osteomalacia, Rickets of the lower limbs,...	ORPHA:289176
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Decreased response to g...	OMIM:213980
Chromosome 8Q22.1 Duplication Syndrome	Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo...	OMIM:151200
Paroxysmal Nocturnal Hemoglobinuria	Decreased serum iron, Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Glycosuria,...	ORPHA:447
Autosomal Dominant Progressive External Ophthalmoplegia	Facial palsy, Quadriceps muscle weakness, Dilated cardiomyopathy, Ragged-red muscle fibers, Limb ...	ORPHA:254892
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Myopathy	OMIM:613077
Autosomal Dominant Kenny-Caffey Syndrome	Delayed cranial suture closure, Delayed skeletal maturation, Decreased skull ossification, Hyperp...	ORPHA:93325
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Abnormal pulmonary valve morphology, Recurrent fractures, Craniosynostosis, Splenom...	ORPHA:667
Sifrim-Hitz-Weiss Syndrome	Wormian bones, Ventricular septal defect, Hypogonadotropic hypogonadism, Flat acetabular roof, Fu...	OMIM:617159
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Decreased methylmalonyl-CoA mutase activity, Homocystinuria	OMIM:277410
Adrenomyodystrophy	Myopathy	ORPHA:977
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Flexion contracture, Myopat...	OMIM:254940
Thrombocytopenia-Absent Radius Syndrome	Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Abnormal cardiac se...	ORPHA:3320
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Elevated circulating creatinine concentration, Myopathy, Hepatosplenomegaly	ORPHA:85450
Infantile Sialic Acid Storage Disease	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:269920
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Myopathy	ORPHA:257
Stapes Ankylosis With Broad Thumbs And Toes	Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger	OMIM:184460
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly	ORPHA:858
Basal Cell Nevus Syndrome 1	Vertebral fusion, Kyphoscoliosis, Hemivertebrae, Cardiac fibroma, Cardiac rhabdomyoma, Irregular ...	OMIM:109400
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Chylomicron Retention Disease	Myopathy, EMG: myopathic abnormalities	ORPHA:71
Xanthinuria, Type I	Myopathy	OMIM:278300
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Cardiomyopathy	OMIM:256550
Sarcoidosis	Hepatomegaly, Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Joint swelling, Abnormality of ...	ORPHA:797
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Hypoglycemia, Delayed skeletal maturation, Rickets, Reduced bone minera...	OMIM:613658
Immunodeficiency 9	Myopathy	OMIM:612782
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cardiomyopathy, EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness	OMIM:609286
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo...	OMIM:616503
Familial Atrial Myxoma	Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly	ORPHA:615
Intellectual Developmental Disorder, Autosomal Dominant 52	Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Hypothyroidism, Lumbar scoliosis	OMIM:617796
Carcinoid Syndrome	Myopathy	ORPHA:100093
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Vertebral fusion, Congenital hip dislocation, Hypoglycemia, Ventricular septal defe...	ORPHA:373
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Microphthalmia, Syndromic 3	Vertebral fusion, Ventricular septal defect, Hypogonadotropic hypogonadism, Anterior pituitary hy...	OMIM:206900
Musculocontractural Ehlers-Danlos Syndrome	Decreased muscle mass, Abnormal heart valve morphology, Abnormal heart morphology, Myopathy, Arth...	ORPHA:2953
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	EMG: myopathic abnormalities	ORPHA:457365
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Splenomegaly, Proximal upper limb muscle hypertrophy, Skeletal muscle hypertrophy, ...	ORPHA:280365
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Diabetes mellitus, Myocarditis, Hyperkalemia, Hypocalcemia, Septic arthritis	ORPHA:544482
Frontometaphyseal Dysplasia	Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move...	ORPHA:1826
Velocardiofacial Syndrome	Hypoparathyroidism, Tetralogy of Fallot, Ventricular septal defect, Hypocalcemia	OMIM:192430
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Splenomegaly, Increased muscle lipid content, Abnormality of the calf musculature, ...	ORPHA:565612
Mulibrey Nanism	Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly	OMIM:253250
Robinow Syndrome, Autosomal Recessive 1	Joint laxity, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Short neck, Delayed ...	OMIM:268310
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Generalized amin...	ORPHA:506
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Bicuspid aortic valve, Short neck, Reduced bone mineral density, Glucose intolerance,...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Bicuspid aortic valve, Short neck, Reduced bone mineral density, Glucose intolerance,...	ORPHA:99228
Monosomy X	Osteopenia, Bicuspid aortic valve, Short neck, Reduced bone mineral density, Glucose intolerance,...	ORPHA:99226
Turner Syndrome	Osteopenia, Bicuspid aortic valve, Short neck, Reduced bone mineral density, Glucose intolerance,...	ORPHA:881
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Pseudoachondroplasia	Skeletal myopathy	ORPHA:750
Leber Optic Atrophy	Myopathy	OMIM:535000
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Cervical C2/C3 vertebral fusion	ORPHA:370010
Friedreich Ataxia	Hypertrophic cardiomyopathy, Decreased pyruvate carboxylase activity	OMIM:229300
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Aplasia of the pectoralis major muscle, Myopathy, Facial palsy	ORPHA:1358
Neurooculocardiogenitourinary Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly	OMIM:618652
Glycogen Storage Disease Xii	Hepatomegaly, Splenomegaly, Myopathy, Increased variability in muscle fiber diameter, Muscle fibe...	OMIM:611881
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Fused cervical vertebrae, Muscular ventricular septal defect, Spina bifida occulta, Butterfly ver...	OMIM:619227
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Tenorio Syndrome	Osteopenia, Joint laxity, Hypoglycemia, Scoliosis, Hypoinsulinemia, Delayed cranial suture closure	OMIM:616260
Xp21 Deletion Syndrome	Calf muscle hypertrophy, Myopathy, Decreased muscle mass	ORPHA:261476
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Rhabdomyolysis, Myopathy, Cardiomyopathy	ORPHA:157
Steinert Myotonic Dystrophy	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	ORPHA:273
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Abnormality of Krebs cycle metabolism, Dilated cardiomyopathy, Ragged-red muscle fi...	ORPHA:255210
Scleromyxedema	Myopathy, Abnormal skeletal muscle morphology	ORPHA:167635
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Ventricular septal defect, Hypocalcemia, Hyperbilirubine...	ORPHA:163979
Myhre Syndrome	Vertebral fusion, Ventricular septal defect, Short neck, Pericardial effusion, Joint stiffness, L...	OMIM:139210
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Decreased methylmalonyl-CoA mutase activity	OMIM:251110
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Barth Syndrome	Skeletal myopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Endocardial fibroelastosis	OMIM:302060
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thoracic scoliosis, Cervical hemivertebrae, Bicuspid aortic valve, Truncus arteriosus, Ventricula...	ORPHA:508498
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hyperthyroidism, Ventricular septal defect, Abnormal pulmonary valve morpholo...	ORPHA:567
Combined Oxidative Phosphorylation Deficiency 55	Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy	OMIM:619743
Thakker-Donnai Syndrome	Ventricular septal defect, Short neck, Hemivertebrae, Transposition of the great arteries, Cervic...	ORPHA:1780
Melas	Ragged-red muscle fibers, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Cardiom...	ORPHA:550
Robinow Syndrome	Fused thoracic vertebrae, Ventricular septal defect, Kyphoscoliosis, Hemivertebrae, Abnormal hear...	ORPHA:97360
Refsum Disease, Classic	Cardiomyopathy, Limb muscle weakness, Cardiomegaly	OMIM:266500
Usher Syndrome	Myopathy, Hypertrophic cardiomyopathy	ORPHA:886
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Recurrent fractures, Elevated circulating creatine kinase concentration, Hypocalcem...	ORPHA:2785
Congenital Myopathy 9A	EMG: myopathic abnormalities	OMIM:618822
Fumarase Deficiency	Aminoaciduria, Perimembranous ventricular septal defect, Decreased fumarate hydratase activity	OMIM:606812
Craniofacioskeletal Syndrome	Atrial septal defect, Ventricular septal defect, Hypocalcemia	OMIM:300712
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly	OMIM:252920
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Contractures of ...	ORPHA:324410
Triosephosphate Isomerase Deficiency	Splenomegaly, Myopathy, Skeletal muscle atrophy	OMIM:615512
Stormorken Syndrome	Myopathy	OMIM:185070
Malignant Hyperthermia Of Anesthesia	Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Abnormality of masseter muscle, Cardiomyoc...	ORPHA:423
Hennekam Syndrome	Camptodactyly of finger, Craniosynostosis, Pericardial effusion, Splenomegaly, Hypocalcemia	ORPHA:2136
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Decreased methylmalonyl-CoA mutase activity	OMIM:251100
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Decreased methylmalonyl-CoA mutase activity, Homocystinuria, Cystathioninuria	OMIM:277400
Kbg Syndrome	Vertebral fusion, Short neck, Delayed skeletal maturation, Vertebral arch anomaly, Thoracic kyphosis	OMIM:148050
Paramyotonia Congenita Of Von Eulenburg	Facial muscle hypertrophy, EMG: myopathic abnormalities	ORPHA:684
Localized Scleroderma	Skeletal muscle atrophy, Flexion contracture, Myopathy	ORPHA:90289
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, EMG: myopathic abnormalities, Elbow flexion contracture, Knee flexion contracture	ORPHA:371364
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Cor triatriatum, Secundum atrial septal defect, Splenomegaly, Hepatosplenomegaly, M...	OMIM:612541
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, M...	OMIM:619503
Vici Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Atrial septal defect, Left ventricular hypertrophy	OMIM:242840
Apert Syndrome	Overriding aorta, Ventricular septal defect, Limited elbow movement, Sagittal craniosynostosis, C...	OMIM:101200
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Duane Retraction Syndrome	Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies, Camptodactyly, Abnormal ...	ORPHA:233
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak...	OMIM:157640
Oculoauriculovertebral Spectrum With Radial Defects	EMG: myopathic abnormalities, Atrioventricular canal defect	ORPHA:2549
Cranioectodermal Dysplasia 1	Joint laxity, Hepatomegaly, Bicuspid aortic valve, Sagittal craniosynostosis, Osteoporosis, Hypoc...	OMIM:218330
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly	OMIM:616897
Hereditary Xanthinuria	Myopathy	ORPHA:3467
Congenital Myopathy 17	Diaphragmatic eventration, Distal arthrogryposis, Myopathy	OMIM:618975
Abetalipoproteinemia	Hepatomegaly, Distal lower limb muscle weakness, Myopathy, Cardiomegaly	ORPHA:14
Digeorge Syndrome	Pilonidal sinus, Parathyroid agenesis, Ventricular septal defect, Decreased circulating parathyro...	OMIM:188400
Frontometaphyseal Dysplasia 2	Hip contracture, Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Fused cerv...	OMIM:617137
Duane-Radial Ray Syndrome	Ventricular septal defect, Fused cervical vertebrae, Shoulder dislocation, Scoliosis, Atrial sept...	OMIM:607323
Arnold-Chiari Malformation Type I	Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac...	ORPHA:268882
Beck-Fahrner Syndrome	Facial hypotonia, Ventricular septal defect, Cardiomegaly	OMIM:618798
Acro-Renal-Ocular Syndrome	Vertebral fusion, Vertebral segmentation defect, Tetralogy of Fallot	ORPHA:959
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Elbow flexion...	OMIM:608836
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Joint laxity, Ventricular septal defect, Tarsal synostosis, Muscular ventricul...	OMIM:157800
Atelosteogenesis, Type I	Short neck, Thoracic platyspondyly, Elbow dislocation, Knee dislocation, Fused cervical vertebrae...	OMIM:108720
Schwartz-Jampel Syndrome	Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Skeletal muscle hypertrop...	ORPHA:800
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Chops Syndrome	Ventricular septal defect, Splenomegaly, Anomalous pulmonary venous return, Tracheomalacia, Cervi...	OMIM:616368
Wolf-Hirschhorn Syndrome	Vertebral fusion, Sacral dimple, Ventricular septal defect, Precocious puberty, Kyphosis, Delayed...	OMIM:194190
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:109
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Alpha-Mannosidosis, Infantile Form	Macroglossia, Facial hypotonia, Myopathy, Hepatosplenomegaly	ORPHA:309282
Congenital Myasthenic Syndrome	Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis multiplex co...	ORPHA:590
Aicardi Syndrome	Block vertebrae, Precocious puberty, Scoliosis, Delayed puberty, Butterfly vertebrae	ORPHA:50
Presynaptic Congenital Myasthenic Syndromes	Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis multiplex co...	ORPHA:98914
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Charge Syndrome	Hypoparathyroidism, Overriding aorta, Hypogonadotropic hypogonadism, Decreased response to growth...	OMIM:214800
Aicardi Syndrome	Block vertebrae, Precocious puberty, Hemivertebrae, Scoliosis, Butterfly vertebrae	OMIM:304050
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Increased variability in muscle fiber diameter, Increased muscle glycogen content, Increased intr...	ORPHA:502423
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v...	OMIM:617022
Pmm2-Cdg	Osteopenia, Joint laxity, Pericarditis, Multiple joint contractures, Hypogonadotropic hypogonadis...	ORPHA:79318
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Hyperextensible hand joints, Camptodactyly	OMIM:227330
Sandhoff Disease	Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly, Macroglossia	OMIM:268800
Oculopharyngodistal Myopathy 1	Autophagic vacuoles, Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Distal a...	OMIM:164310
Thrombocytopenia-Absent Radius Syndrome	Carpal synostosis, Ventricular septal defect, Patellar aplasia, Hip dislocation, Hepatosplenomega...	OMIM:274000
Johanson-Blizzard Syndrome	Joint laxity, Hepatomegaly, Diabetes mellitus, Ventricular septal defect, Increased VLDL choleste...	OMIM:243800
Fucosidosis	Hepatomegaly, Decreased muscle mass, Cardiomegaly	ORPHA:349
Glycogen Storage Disease Ii	Hepatomegaly, Cardiomegaly, Splenomegaly, Increased muscle glycogen content, Macroglossia, Firm m...	OMIM:232300
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Hepatomegaly, Cardiomegaly	ORPHA:99931
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Decreased muscle mass, Elbow flexion contracture, Limb muscle weakness, Mitral valve prolapse, Wr...	ORPHA:1900
Idiopathic Camptocormia	Myositis, Fatty replacement of skeletal muscle, Abnormal muscle fiber dysferlin, Proximal spinal ...	ORPHA:1320
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Skeletal muscle atrophy, Myopathy, Type 1 muscle fiber predominance	OMIM:614557
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,...	OMIM:231005
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Cystinosis, Nephropathic	Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Generalized aminoaciduria, Myopathy, Aminoac...	OMIM:219800
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e...	ORPHA:57777
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Elb...	OMIM:602782
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Stromme Syndrome	Myopathy	OMIM:243605
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Cardiomegaly, Macroglossia, Left ventricular hypertrophy, Hypertr...	ORPHA:308552
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Wormian bones, Ventricular septal defect, Decreased response to growth hormone stimulation test, ...	ORPHA:444077
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Limb muscle weakness, Cardiomegaly	OMIM:619259
Kyphoscoliotic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Bicuspid aortic valve, Dextrocardia, Myopathy	ORPHA:536545
Wolfram Syndrome	Cardiomyopathy, Myopathy	ORPHA:3463
Neuromuscular Oculoauditory Syndrome	Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, EMG: myopathic abnormal...	OMIM:618733
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Cardiomegaly, Fl...	ORPHA:365
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany, Hypothyroidism, Thyroiditis, Aplasia of the thymus	ORPHA:83471
Apert Syndrome	Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion	ORPHA:87
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Rhabdomyolysis, Dilated cardiomyopathy	OMIM:614921
Goodpasture Syndrome	Increased blood urea nitrogen	OMIM:233450
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ...	OMIM:245600
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Abnormality of the knee, Adrenal calcification, Osteomalacia, Cardiomega...	ORPHA:51608
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy	ORPHA:79330
Arterial Calcification, Generalized, Of Infancy, 2	Right atrial enlargement, Cardiomegaly	OMIM:614473
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Arthrogryposis multiplex congenita	OMIM:608013
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Thenar muscle atrophy, Hypoplasia of the musculature, Cardiomegaly	ORPHA:2463
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Joint laxity, Ventricular septal defect, Hypocalcemia, Short neck	OMIM:620330
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Chromosome 16P13.3 Duplication Syndrome	Sacral dimple, Ventricular septal defect, Short neck, Hip dislocation, Cervical C5/C6 vertebrae f...	OMIM:613458
Multiple Endocrine Neoplasia, Type Iib	Myopathy	OMIM:162300
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Arthrogryposis multiplex c...	OMIM:618143
Glycerol Kinase Deficiency	Myopathy, Muscular dystrophy	OMIM:307030
Alström Syndrome	Thoracic scoliosis, Decreased response to growth hormone stimulation test, Accelerated skeletal m...	ORPHA:64
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Cardiomegaly	OMIM:105210
Microform Holoprosencephaly	EMG: myopathic abnormalities, Tetralogy of Fallot	ORPHA:280200
1P36 Deletion Syndrome	Abnormal heart valve morphology, Camptodactyly of finger, Dilated cardiomyopathy, Myopathy, Abnor...	ORPHA:1606
Neurodegeneration And Seizures Due To Copper Transport Defect	Limb hypertonia, Cardiomegaly	OMIM:620306
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Lethal Acantholytic Erosive Disorder	Camptodactyly of toe, Cardiomyopathy, Cardiomegaly	ORPHA:158687
Pseudo-Torch Syndrome 3	Cardiomegaly	OMIM:618886
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	EMG: myopathic abnormalities, Acute rhabdomyolysis	ORPHA:480864
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia	OMIM:230000
Choreoacanthocytosis	Hepatomegaly, Peroneal muscle atrophy, Splenomegaly, Dilated cardiomyopathy, Myopathy, Distal amy...	ORPHA:2388
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Diastasis recti, Cardiomegaly, Splenomegaly, Macroglossia, Camptodactyly, Arthrogry...	OMIM:252500
Absence Of The Pulmonary Artery	Abnormal hemidiaphragm morphology, Cardiomegaly, Abnormal heart morphology, Abnormal cardiac sept...	ORPHA:980
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Contracture of the distal interphalangeal joint of the fingers, Cleft vertebral arc...	ORPHA:83617
Friedreich Ataxia 2	Decreased pyruvate carboxylase activity, Muscular subvalvular aortic stenosis, Concentric hypertr...	OMIM:601992
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia, Abnormal aortic valv...	ORPHA:581
Neurodegeneration With Brain Iron Accumulation 1	Myopathy, Decreased muscle mass	OMIM:234200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly	ORPHA:228308
Sickle Cell Disease	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:603903
Bohring-Opitz Syndrome	Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno...	ORPHA:97297
Caribbean Parkinsonism	EMG: myopathic abnormalities	ORPHA:97355
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Flexion contracture, Myopathy	ORPHA:3042
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial...	ORPHA:1677
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Cardiomegaly	OMIM:208000
Dermatomyositis	Myocarditis, Pericarditis, Inflammatory myopathy	ORPHA:221
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia...	OMIM:130650
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent...	OMIM:300967
Ogden Syndrome	Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomeg...	OMIM:300855
Paternal Uniparental Disomy Of Chromosome 6	Macroglossia, Hepatomegaly, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Leukocyte Adhesion Deficiency	Coronal craniosynostosis, Osteomyelitis, Hyperinsulinemic hypoglycemia	ORPHA:2968
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly	OMIM:618278
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Cardiomegaly, Hepatosplenomegaly, Hypertrophic cardiomyopathy	ORPHA:51
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabdomyosarcoma, S...	ORPHA:116
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Skeletal muscle atrophy, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Flexi...	OMIM:256040
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly	ORPHA:137675
Proteus Syndrome	Enlarged polycystic ovaries, Splenomegaly, Decreased muscle mass, Myofibrillar myopathy	ORPHA:744
Craniofacial Microsomia 1	Ventricular septal defect, Block vertebrae, Hemivertebrae, Genu valgum, Scoliosis, Tetralogy of F...	OMIM:164210
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega...	ORPHA:75565
Elsahy-Waters Syndrome	Cervical C2/C3 vertebral fusion	OMIM:211380
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot	ORPHA:3472
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis...	OMIM:182250
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Hypertrophic cardiomyopathy	OMIM:617184

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 Slc25a4

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 Slc25a4.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Slc25a4^{tm1a(EUCOMM)Wtsi} Slc25a43^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Slc25a4^{tm1a(EUCOMM)Wtsi} Slc25a43^{tm1a(EUCOMM)Wtsi} Slc25a43^{tm1a(EUCOMM)Wtsi}	PMC6459510
Ant1 mutant mice bridge the mitochondrial and serotonergic dysfunctions in bipolar disorder.	Molecular psychiatry (June 2018)	Slc25a4^{tm1a(EUCOMM)Wtsi}	PMC6250678

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Slc25a4^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Slc25a4^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Slc25a4^{tm1a(EUCOMM)Wtsi}	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: Slc25a4 MGI:1353495

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Legacy Phenotype Associated Images

Human diseases caused by Slc25a4 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data