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Gene: Chchd10 MGI:2143558

Gene Summary

Name:

coiled-coil-helix-coiled-coil-helix domain containing 10

Synonyms:

1620401E04Rik, Ndg2

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 circulating potassium level	Chchd10^em1(IMPC)H	HOM	Early adult	4.55×10^-12
abnormal testis morphology	Chchd10^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating creatinine level	Chchd10^em1(IMPC)H	HOM	Early adult	3.14×10^-38
increased blood urea nitrogen level	Chchd10^em1(IMPC)H	HOM	Early adult	5.75×10^-13
small testis	Chchd10^em1(IMPC)Mbp	HOM	Early adult	0.00
increased grip strength	Chchd10^em1(IMPC)H	HOM	Early adult	4.12×10^-07
increased circulating phosphate level	Chchd10^em1(IMPC)Mbp	HOM	Early adult	2.71×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Human diseases caused by Chchd10 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 Chchd10 (7 diseases)
Human diseases predicted to be associated with Chchd10 (1594 diseases)

The table below shows human diseases associated to Chchd10 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Exercise intolerance, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness,...	ORPHA:457050
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Exercise intolerance, Ragged-red muscle fibers, Facial palsy, Decreased activity of mitochondrial...	OMIM:616209
Frontotemporal Dementia With Motor Neuron Disease	Progressive cerebellar ataxia, Frontotemporal dementia, Abnormal upper motor neuron morphology, D...	ORPHA:275872
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Increased intramuscul...	ORPHA:276435
Amyotrophic Lateral Sclerosis	Progressive spinal muscular atrophy, Frontotemporal dementia, Depression, Emotional lability, Pro...	ORPHA:803
Spinal Muscular Atrophy, Jokela Type	Difficulty walking, Distal sensory impairment, Calf muscle hypertrophy, Tremor, Spinal muscular a...	OMIM:615048
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Frontotemporal dementia, Sensorineural hearing impairment, Frontal lobe dementia, Cognitive impai...	OMIM:615911

The table below shows human diseases predicted to be associated to Chchd10 by phenotypic similarity.

Disease	Matching phenotypes	Source
Testicular Microlithiasis	Testicular microlithiasis	OMIM:610441
Pseudohypoparathyroidism, Type Ii	Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypo...	OMIM:203330
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Decreased circulating parathyroid hormone...	OMIM:618883
Congenital Myopathy 5 With Cardiomyopathy	Congestive heart failure, Severely reduced left ventricular ejection fraction, Mitochondrial depl...	OMIM:611705
Spinal Muscular Atrophy, Type Iv	Hand tremor, Calf muscle hypertrophy, Rimmed vacuoles, Waddling gait, Muscle fiber necrosis, Spin...	OMIM:271150
Spastic Paraplegia Type 7	Optic atrophy, Spastic gait, Memory impairment, Ragged-red muscle fibers, Scoliosis, Impaired vib...	ORPHA:99013
Testes, Rudimentary	Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism	OMIM:273150
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Exercise intolerance, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness,...	ORPHA:457050
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Limb-girdle muscle weakness, Peroneal muscle atrophy, Limb-girdle muscular dystrophy, Elbow flexi...	OMIM:181350
Dna2-Related Mitochondrial Dna Deletion Syndrome	Difficulty walking, Decreased mitochondrial number, Depression, Hyperlordosis, Gait disturbance, ...	ORPHA:352470
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Hypocalcemic seizures, Congenital hypoparathyroidism, Hypocalcemia, Hypomagnese...	ORPHA:2239
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle...	OMIM:310300
Mitochondrial Myopathy With Diabetes	Exercise intolerance, Difficulty walking, Ragged-red muscle fibers, Facial palsy, EMG: myopathic ...	OMIM:500002
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Muscular dystrophy, Calf muscle pseudohypertrophy, Exercise-induced myalgia, Waddling gait, Facia...	OMIM:254110
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Sensorineural hearing impairment, Scoliosis, Rimmed vacuoles, Failure to thrive, Centrally nuclea...	OMIM:619518
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Muscle fiber splitting, Ankle flexion contracture, Scoliosis, Hyperlordosis, Waddling gait, Calf ...	OMIM:617760
Pseudohypoparathyroidism Type 2	Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Hypocalcemia, Pseudohypopa...	ORPHA:94090
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro...	OMIM:612158
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Muscle fiber splitting, Hyperlordosis, Scapular winging, Gait disturbance, Back pain, Increased v...	OMIM:618129
Gne Myopathy	Hip flexor weakness, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed vacuoles, Abnor...	ORPHA:602
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Exercise intolerance, Ragged-red muscle fibers, Facial palsy, Decreased activity of mitochondrial...	OMIM:616209
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Muscular dystrophy, Spinal rigidity, Difficulty walking, Abdominal pain, Scoliosis, Calf muscle h...	ORPHA:86812
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism, Unilateral cryptorchidism	OMIM:219050
Atrial Standstill	Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Fatigue,...	ORPHA:1344
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Fatty replacement of skeletal muscle, Rimmed vacuoles, S...	OMIM:619733
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Generalized limb muscle atrophy, Difficulty walking, Pelvic girdle muscle weakness, Falls, Calf m...	OMIM:608358
Pseudohypoparathyroidism, Type Ib	Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypo...	OMIM:603233
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Exercise-induced myalgia, Rimmed vacuoles, Increased variability i...	OMIM:615424
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Exercise intolerance, Supraventricular tachycardia, Cardiomyopathy, Decreased activity of mitocho...	OMIM:255100
Myasthenic Syndrome, Congenital, 14	Weakness of facial musculature, Ragged-red muscle fibers, Scoliosis, Hyperlordosis, Waddling gait...	OMIM:616228
Tibial Muscular Dystrophy	Steppage gait, Difficulty walking, Rimmed vacuoles, EMG: myopathic abnormalities, Increased varia...	ORPHA:609
Left Ventricular Noncompaction 1	Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri...	OMIM:604169
Myopathy, Distal, 5	Muscle fiber splitting, Distal lower limb muscle weakness, Distal amyotrophy, Rimmed vacuoles, We...	OMIM:617030
Inclusion Body Myositis	Inflammatory myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Abnorm...	ORPHA:611
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia	OMIM:620085
Cardiomyopathy, Dilated, 1U	Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at...	OMIM:613694
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Type 2 muscle fiber predominance, Waddling gait, Spinal muscular atrophy, Proximal lower limb amy...	OMIM:158600
Carnitine Deficiency, Myopathic	Reduced muscle carnitine level, Myopathy, Decreased circulating carnitine concentration	OMIM:212160
Myopathy, Distal, With Rimmed Vacuoles	Internally nucleated skeletal muscle fibers, Rimmed vacuoles, Facial palsy, Scapular winging, EMG...	OMIM:617158
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Rimmed vacuoles, Scap...	OMIM:301075
Myopathy, Distal, 4	Distal upper limb amyotrophy, Cardiomyopathy, Thenar muscle weakness, Skeletal muscle atrophy, Di...	OMIM:614065
Hypogonadism, Male	Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias	OMIM:241100
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Flexion limitatio...	OMIM:609115
Polyglucosan Body Myopathy 2	Difficulty walking, Peroneal muscle weakness, Muscle fiber inclusion bodies, Muscle fiber polyglu...	OMIM:616199
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemic seizures, Hypoparathyroidism, Hypocalcemia, Hyperphosphatemia, Decreased circulating...	OMIM:146200
Frontotemporal Dementia With Motor Neuron Disease	Progressive cerebellar ataxia, Frontotemporal dementia, Abnormal upper motor neuron morphology, D...	ORPHA:275872
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Difficulty walking, Scoliosis, Hyperlordosis, Waddling gait, Distal amyotrophy, Spinal muscular a...	OMIM:611067
Myopathy, Autophagic Vacuolar, Infantile-Onset	Autophagic vacuoles, Myopathy, Hypertrophic cardiomyopathy	OMIM:609500
Distal Myopathy, Welander Type	Distal upper limb amyotrophy, Rimmed vacuoles, EMG: myopathic abnormalities, Intrinsic hand muscl...	ORPHA:603
Leber Hereditary Optic Neuropathy	Retinal telangiectasia, Mitochondrial respiratory chain defects, Ataxia, Arrhythmia, Ventricular ...	ORPHA:104
Nemaline Myopathy 6	Exercise intolerance, Facial palsy, Nemaline bodies, Limb muscle weakness, Skeletal muscle atroph...	OMIM:609273
Danon Disease	Exercise intolerance, Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiomegaly, Low...	OMIM:300257
Myofibrillar Myopathy 11	Type 1 muscle fiber predominance, Calf muscle hypertrophy, EMG: myopathic abnormalities, Fatigue,...	OMIM:619178
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Microphallus, Decreased testicular size, Absence of pubertal development, Primary amenorrhea, Cry...	OMIM:614840
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Distal lower limb muscle weakness, Difficulty walking, Distal lower limb amyotrophy, Impaired pro...	OMIM:500013
Combined Oxidative Phosphorylation Deficiency 38	Decreased activity of mitochondrial complex I, Low-set ears, Hypertrophic cardiomyopathy, Abnorma...	OMIM:618378
Klhl9-Related Early-Onset Distal Myopathy	Ankle flexion contracture, Distal sensory impairment, Amyotrophy of ankle musculature, Impaired v...	ORPHA:399081
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal hypertroph...	OMIM:115197
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Congestive heart failure, Ankle flexion contracture, Calf muscle hypertrophy, Scapular winging, E...	OMIM:608099
Hereditary Myopathy With Early Respiratory Failure	Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Calf m...	ORPHA:178464
Myopathy, Myofibrillar, 3	Muscle fiber splitting, Distal amyotrophy, Cardiomyopathy, Muscle fiber cytoplasmatic inclusion b...	OMIM:609200
Congenital Myopathy 3 With Rigid Spine	Muscular dystrophy, Spinal rigidity, Type 1 and type 2 muscle fiber minicore regions, Scoliosis, ...	OMIM:602771
Congenital Myopathy 24	Facial palsy, Cardiomyopathy, Scapular winging, Nemaline bodies, First degree atrioventricular bl...	OMIM:617336
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower limbs, Proximal upper...	ORPHA:98855
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Ankle flexion contracture, Central core regions in muscle fibers, Scoliosis, Nemaline bodies, Inc...	OMIM:117000
Congenital Heart Block	Exercise intolerance, Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhyth...	ORPHA:60041
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Proximal muscle weakness in upper limbs, Lower limb amyotrophy, Exercise-induced myalgia, Calf mu...	OMIM:620375
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Talipes equinovarus, ...	OMIM:619216
Cardiomyopathy, Dilated, 1V	Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A...	OMIM:613697
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Muscular dystrophy, Exercise intolerance, Muscle fiber necrosis, Limb muscle weakness, Limb-girdl...	OMIM:616812
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy...	OMIM:614954
Myopathy, Myofibrillar, 1	Bradycardia, Restrictive cardiomyopathy, Facial palsy, EMG: myopathic abnormalities, Hypertrophic...	OMIM:601419
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Muscular dystrophy, Spinal rigidity, Inability to walk, Scoliosis, Increased variability in muscl...	OMIM:617066
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Distal amyotrophy,...	OMIM:618655
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Muscular dystrophy, Spinal rigidity, Rimmed vacuoles, Scapular winging, Autophagic vacuoles, EMG:...	OMIM:608423
Myopathy, Scapulohumeroperoneal	Scoliosis, Hyperlordosis, Facial palsy, Scapular winging, Nemaline bodies, Increased variability ...	OMIM:616852
Long Qt Syndrome 13	Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn...	OMIM:613485
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced...	OMIM:604772
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Biventricular hypertrophy, Muscle fiber hyaline bodies, Scoliosis, Calf muscle hypertrophy, EMG: ...	OMIM:255160
Nonaka Myopathy	Distal lower limb muscle weakness, Deposits immunoreactive to beta-amyloid protein, Distal amyotr...	OMIM:605820
Proximal Myopathy With Extrapyramidal Signs	Optic atrophy, Difficulty walking, Central core regions in muscle fibers, Resting tremor, Chorea,...	ORPHA:401768
Myopathy, Centronuclear, 1	Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle...	OMIM:160150
Emery-Dreifuss Muscular Dystrophy	Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower limbs, Proximal upper...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower limbs, Proximal upper...	ORPHA:98853
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Hyp...	OMIM:300696
Myopathy, Distal, Tateyama Type	Calf muscle hypertrophy, Hand muscle weakness, Increased variability in muscle fiber diameter, Ce...	OMIM:614321
Congenital Arthrogryposis With Anterior Horn Cell Disease	Difficulty walking, Inability to walk, Abnormal anterior horn cell morphology, Scoliosis, Facial ...	OMIM:611890
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Distal amyotrophy, Hand muscle weakness, Hand muscle atrophy, Weakness of facial musculature, Abn...	OMIM:607641
Atrial Standstill 1	Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d...	OMIM:108770
Myopathy, Distal, 1	Tip-toe gait, Left atrial enlargement, Distal lower limb muscle weakness, Ragged-red muscle fiber...	OMIM:160500
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Increased intramuscul...	ORPHA:276435
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Muscular dystrophy, Scapular winging, Cardiomyopathy, Increased variability in muscle fiber diame...	OMIM:612999
Hsd10 Mitochondrial Disease	Optic atrophy, Sensorineural hearing impairment, Hypertrophic cardiomyopathy, Abnormal mitochondr...	OMIM:300438
Kearns-Sayre Syndrome	Ragged-red muscle fibers, Ataxia, Third degree atrioventricular block, Skeletal muscle atrophy	ORPHA:480
X-Linked Emery-Dreifuss Muscular Dystrophy	Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower limbs, Proximal upper...	ORPHA:98863
Nemaline Myopathy 2	Spinal rigidity, Hyperlordosis, Sternocleidomastoid amyotrophy, Muscle fiber splitting, Mitochond...	OMIM:256030
King-Denborough Syndrome	Kyphoscoliosis, Minicore myopathy, Exercise-induced myalgia, Scoliosis, Low-set ears, Thoracic ky...	OMIM:619542
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Scoliosis, Kyphosis, Increased variability in muscle fiber diameter, Centrally nu...	OMIM:618484
Cardiomyopathy, Dilated, 1E	Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr...	OMIM:601154
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Distal sensory impairment, Distal amyotrophy, Tremor, Hearing impairment, Fiber type grouping	OMIM:614369
Myopathy, Sarcoplasmic Body	Sarcoplasmic bodies, Weakness of the intrinsic hand muscles, Increased variability in muscle fibe...	OMIM:620286
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Frontalis muscle weakness, Facial palsy, Decreased body weight, Type 1 fibers relatively smaller ...	OMIM:300580
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Lower limb amyotrophy, Calf muscle hypertrophy, Cardiomyopathy, Wrist flexion contracture, Upper ...	ORPHA:206549
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Irritability, Inability to walk, Loss of ability to walk in early childhood, Ragged-red muscle fi...	OMIM:609560
Adult-Onset Nemaline Myopathy	Type 1 muscle fiber predominance, Upper limb muscle weakness, Nemaline bodies, EMG: myopathic abn...	ORPHA:171442
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Spastic gait, Gait imbalance, Skeletal muscle atrophy	ORPHA:247604
Mantle Cell Lymphoma	Weight loss, Fatigue	ORPHA:52416
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy, Asymmetric septal hypertrophy	OMIM:212130
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Atrophy/Degeneration involving the spinal cord, Sensorineural hearing impairment, Positive Romber...	OMIM:607459
Myopathy, Centronuclear, 2	Scoliosis, Hyperlordosis, Waddling gait, Facial palsy, Kyphosis, Scapular winging, EMG: myopathic...	OMIM:255200
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Hypertrophic cardiomyopathy, Failure to thrive, Abnormality ...	ORPHA:91130
Atrial Septal Defect, Sinus Venosus Type	Left-to-right shunt, Right ventricular dilatation, Supraventricular arrhythmia, Pulmonary arteria...	ORPHA:99105
Muscle Filaminopathy	Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Right ...	ORPHA:171445
Distal Nebulin Myopathy	Ankle flexion contracture, Cardiomyopathy, EMG: myopathic abnormalities, Weakness of the intrinsi...	ORPHA:399103
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat...	ORPHA:99106
Familial Isolated Dilated Cardiomyopathy	Congestive heart failure, Left ventricular systolic dysfunction, Fatigue, Arrhythmia, Dilated car...	ORPHA:154
Spastic Paraplegia 18B, Autosomal Recessive	Inability to walk, Scoliosis, Kyphosis, Gait disturbance, Joint contracture, Skeletal muscle atro...	OMIM:611225
Mitochondrial Complex I Deficiency, Nuclear Type 25	Failure to thrive, Decreased activity of mitochondrial complex I, Myopathy, Nemaline bodies	OMIM:618246
Hyperchlorhidrosis, Isolated	Hyperkalemia, Hyponatremia	OMIM:143860
Barth Syndrome	Dilated cardiomyopathy, Endocardial fibroelastosis, Abnormal mitochondrial morphology	ORPHA:111
Sandhoff Disease, Adult Form	Tremor, Upper limb muscle weakness, Gait ataxia, Focal dystonia, Muscle fiber atrophy, Dystonia, ...	ORPHA:309169
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Hip pain, Frontotemporal dementia, Distal amyotrophy, Rimmed vacuoles, Facial palsy, Scapular win...	OMIM:167320
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Muscle fiber splitting, Somatic sensory dysfunction, Distal sensory impairment, Lower limb amyotr...	OMIM:616924
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular septal hypertrophy, Palpitations, ST segment elevation, Right bundle branch block, Ca...	ORPHA:263297
Partial Chromosome Y Deletion	Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr...	ORPHA:1646
Spermatogenic Failure 32	Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia	OMIM:618115
Spermatogenic Failure 71	Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia	OMIM:619831
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Pulmonary Blastoma	Chest pain, Weight loss	ORPHA:64741
Rhabdomyolysis, Susceptibility To, 1	Exercise intolerance, Type 2 muscle fiber predominance, Increased variability in muscle fiber dia...	OMIM:620235
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl...	ORPHA:488650
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Hip flexor weakness, Facial hypotonia, Autophagic vacuoles, EMG: myopathic abnormalities, Increas...	ORPHA:266
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Difficulty walking, Inability to walk, Sensorineural hearing impairment, Scoliosis, Tremor, Waddl...	ORPHA:2590
Tubular Aggregate Myopathy	Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Increased variability in muscle fi...	ORPHA:2593
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hip pain, Frontotemporal dementia, Abnormality of the vertebral column, Abnormal motor neuron mor...	ORPHA:52430
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Kyphoscoliosis, Night sweats, Impaired temperature sensation, Impaired pain sensation, Scoliosis,...	OMIM:619574
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Fatty replacement of ventricular myocardial tissue, Wrist flexion contracture, Nemaline bodies, L...	OMIM:620386
Merrf	Ragged-red muscle fibers, Ataxia, Myopathy	ORPHA:551
Congenital Myopathy 20	Scoliosis, Scapular winging, Nemaline bodies, Congenital contracture, Increased variability in mu...	OMIM:620310
Combined Oxidative Phosphorylation Deficiency 49	Exercise intolerance, Difficulty walking, Ragged-red muscle fibers, Decreased activity of mitocho...	OMIM:619024
Welander Distal Myopathy	Rimmed vacuoles, Steppage gait, Distal amyotrophy	OMIM:604454
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Heart block, Cardiomyopathy, Weakness of the intrinsic h...	ORPHA:98912
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic atrophy, Difficulty walking, Distal sensory impairment, Lower limb amyotrophy, Scoliosis, K...	OMIM:617087
X-Linked Charcot-Marie-Tooth Disease Type 1	Abnormal nerve conduction velocity, Impaired pain sensation, Scoliosis, Tremor, Distal upper limb...	ORPHA:101075
Desminopathy	Congestive heart failure, Distal lower limb muscle weakness, Concentric hypertrophic cardiomyopat...	ORPHA:98909
Myopathy, Myofibrillar, 5	Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy	OMIM:609524
Congenital Myopathy 4A, Autosomal Dominant	Scoliosis, Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated...	OMIM:255310
Congenital Myopathy 22A, Classic	Spinal rigidity, Weakness of facial musculature, Ragged-red muscle fibers, Scoliosis, Decreased a...	OMIM:620351
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Congenital contracture, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Myopathy, Ta...	OMIM:208100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, W...	OMIM:619566
Bethlem Myopathy 1A	Ankle flexion contracture, Torticollis, Congenital muscular torticollis, Elbow flexion contractur...	OMIM:158810
Amyotrophic Lateral Sclerosis 21	Distal lower limb muscle weakness, Decreased nerve conduction velocity, Distal sensory impairment...	OMIM:606070
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Limb-gir...	OMIM:612937
Alpha-B Crystallin-Related Late-Onset Myopathy	Accumulation of muscle fiber desmin, Muscle fiber inclusion bodies, Facial diplegia, Autophagic v...	ORPHA:399058
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia, ...	OMIM:601198
Marinesco-Sjogren Syndrome	Limb ataxia, Scoliosis, Rimmed vacuoles, Kyphosis, Gait ataxia, Failure to thrive, Centrally nucl...	OMIM:248800
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Decreased activity of mitochondrial respiratory chain, Myopathy	OMIM:613076
Combined Oxidative Phosphorylation Deficiency 8	Congestive heart failure, Reduced left ventricular ejection fraction, Decreased activity of mitoc...	OMIM:614096
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Inability to walk, Ragged-red muscle fibers, Athetosis, Dystonia, Ataxia, Decreased activity of m...	OMIM:615159
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Calf muscle hypertrophy, Muscle fiber necrosis, Increased variability in muscle fiber diameter, F...	OMIM:618848
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ragged-red muscle fibers, Abdominal pain, Cachexia, Decreased activity of mitochondrial complex I...	OMIM:613662
Congenital Myopathy 18	Scoliosis, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fi...	OMIM:620246
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Decreased nerve conduction velocity, Arthritis, Tremor, Bilateral sensorineural hearing impairmen...	ORPHA:397744
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Impaired proprioception, Impaired temperature sensation, Abnormal motor neuron morphology, Impair...	DECIPHER:29
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Truncal ataxia, Gait ataxia,...	ORPHA:95434
Cardiomyopathy, Dilated, 1X	Reduced left ventricular ejection fraction, Calf muscle hypertrophy, Increased variability in mus...	OMIM:611615
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Muscle fiber splitting, Muscular dystrophy, Rimmed vacuoles, Scapular winging, Centrally nucleate...	OMIM:601846
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers, Exercise intolerance	OMIM:616839
Spinal Muscular Atrophy, Segmental	Segmental spinal muscular atrophy, Hand muscle atrophy, Abnormal anterior horn cell morphology	OMIM:183020
Mitochondrial Complex I Deficiency, Nuclear Type 15	Optic atrophy, Irritability, Decreased activity of mitochondrial complex I, Kyphosis, Hypertrophi...	OMIM:618237
Cardiomyopathy, Familial Hypertrophic, 26	Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br...	OMIM:617047
Myopathy, Centronuclear, 4	Exercise intolerance, Myalgia, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber pr...	OMIM:614807
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Congestive heart failure, Abnormal Z disk morphology...	OMIM:618654
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Distal lower limb muscle w...	OMIM:620068
Childhood-Onset Nemaline Myopathy	Exercise intolerance, Generalized limb muscle atrophy, Facial diplegia, Scapular winging, EMG: my...	ORPHA:171439
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Ragged-red muscle fibers, Ataxia, Myopathy	OMIM:545000
Spondyloepiphyseal Dysplasia, Nishimura Type	Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level	OMIM:618618
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula...	OMIM:302045
Blue Diaper Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Hyperphosphatemia, Hypercalcemia,...	ORPHA:94086
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Muscular dystrophy, Cardiomyopathy, EMG: myopathic abnormalities, Increased variability in muscle...	OMIM:608807
Muscular Dystrophy, Congenital, Megaconial Type	Muscular dystrophy, Waddling gait, Facial palsy, Mitochondrial hypertrophy, Dilated cardiomyopath...	OMIM:602541
Undifferentiated Pleomorphic Sarcoma	Weight loss, Fatigue	ORPHA:2023
Cardiomyopathy, Dilated, 1G	Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat...	OMIM:604145
Laing Early-Onset Distal Myopathy	Talipes cavus equinovarus, Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Ab...	ORPHA:59135
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Fatigue, Increased vari...	OMIM:253601
X-Linked Centronuclear Myopathy	Inability to walk, Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 ...	ORPHA:596
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand, Dilated cardiomyopathy, Cli...	OMIM:610140
Scapuloperoneal Myopathy, X-Linked Dominant	Right bundle branch block, Scapular winging, Scapuloperoneal myopathy, Myofibrillar myopathy, For...	OMIM:300695
Congenital Myopathy 1B, Autosomal Recessive	Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Scoliosis, Exercise-induced ...	OMIM:255320
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Exercise intolerance, Spinal rigidity, Decreased mitochondrial number, Ragged-red muscle fibers, ...	ORPHA:352447
Congenital Myopathy With Myasthenic-Like Onset	Type 1 muscle fiber predominance, Scapular winging, EMG: myopathic abnormalities, Failure to thri...	ORPHA:424107
Inclusion Body Myositis	Rimmed vacuoles, Inflammatory myopathy	OMIM:147421
Myopathy, Tubular Aggregate, 1	Exercise-induced myalgia, Weakness of the intrinsic hand muscles, Increased variability in muscle...	OMIM:160565
Rigid Spine Syndrome	Elbow flexion contracture, Hamstring contractures, Hip contracture, Cardiac conduction abnormalit...	ORPHA:97244
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Proximal muscle weakness in upper limbs, Difficulty walking, Type 1 muscle fiber predominance, De...	OMIM:613954
Mitochondrial Complex I Deficiency, Nuclear Type 21	Ragged-red muscle fibers, Decreased activity of mitochondrial complex I, Ataxia, Myopathy	OMIM:618242
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy, Weight loss, Arrhythmia, Atrioventricular block	ORPHA:85447
Autosomal Recessive Centronuclear Myopathy	Abnormal heart valve morphology, Facial diplegia, Waddling gait, Facial palsy, Hyperlordosis, Sca...	ORPHA:169186
Oculopharyngodistal Myopathy 2	Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, We...	OMIM:618940
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Proximal upper limb amyotrophy, Muscular dystrophy, Proximal muscle weakness in upper limbs, Dist...	OMIM:601954
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d...	OMIM:617280
X-Linked Charcot-Marie-Tooth Disease Type 4	Decreased nerve conduction velocity, Impaired pain sensation, Scoliosis, Tremor, Gait disturbance...	ORPHA:101078
Mitochondrial Complex I Deficiency, Nuclear Type 11	Congestive heart failure, Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial com...	OMIM:618234
Tibial Muscular Dystrophy, Tardive	Muscular dystrophy, Tibialis anterior muscle atrophy, Rimmed vacuoles, Cardiomyopathy, EMG: myopa...	OMIM:600334
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card...	OMIM:611819
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Ataxia, Myopathy	ORPHA:2579
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Spinal rigidity, Scoliosis, EMG: myopathic abnormalities, Limb muscle weakness, Increased variabi...	ORPHA:486815
Complete Atrioventricular Septal Defect	Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car...	ORPHA:1329
Amyotrophic Lateral Sclerosis 2, Juvenile	Spastic gait, Urinary incontinence, Spasticity of facial muscles, Head titubation, Ataxia, Opisth...	OMIM:205100
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ...	OMIM:612462
Nemaline Myopathy 5C, Autosomal Dominant	Tip-toe gait, Difficulty walking, Pelvic girdle muscle weakness, Scoliosis, Hyperlordosis, Waddli...	OMIM:620389
Myopathy And Diabetes Mellitus	Exercise intolerance, Progressive cerebellar ataxia, Weakness of orbicularis oculi muscle, Skelet...	ORPHA:2596
Bethlem Myopathy 2	Increased variability in muscle fiber diameter, Scapular winging, Flexion contracture, Myopathy	OMIM:616471
Sengers Syndrome	Exercise intolerance, Decreased activity of mitochondrial complex I, Cardiac arrest, Pulmonary ar...	OMIM:212350
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Frontotemporal dementia, Myositis, Rimmed vacuoles, Cognitive impairment, Centrally nucleated ske...	OMIM:615422
Brugada Syndrome	Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc...	ORPHA:130
Cardiomyopathy, Dilated, 1A	Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc...	OMIM:115200
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Muscle fiber splitting, Facial palsy, Limb muscle weakness, Increased variability in muscle fiber...	OMIM:616313
Progressive Familial Heart Block, Type Ii	Sudden death, Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atriove...	OMIM:140400
Combined Oxidative Phosphorylation Deficiency 6	Ragged-red muscle fibers, Irritability, Decreased activity of mitochondrial complex IV, Skeletal ...	OMIM:300816
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Optic atrophy, Exercise intolerance, Ragged-red muscle fibers, Truncal ataxia, Abnormal mitochond...	OMIM:252011
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Scapular winging, Aspiration pneumonia, Fatigue, Angulated muscle fibers, Weakness of facial musc...	OMIM:619477
Combined Oxidative Phosphorylation Deficiency 34	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:617872
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers, Fatty replacement o...	OMIM:618823
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Increased variability in muscle fiber diameter, Ataxia, Increased intramyocellular lipid droplets...	OMIM:619065
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic atrophy, Difficulty walking, Inability to walk, Oculogyric crisis, Scoliosis, Tremor, Dysto...	ORPHA:330050
Pontiac Fever	Myalgia, Fatigue	ORPHA:99748
Oculopharyngeal Muscular Dystrophy	Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy	ORPHA:270
Multiminicore Myopathy	Muscular dystrophy, Proximal muscle weakness in upper limbs, Failure to thrive, Minicore myopathy...	ORPHA:598
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Lower limb amyotrophy...	OMIM:620402
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Tip-toe gait, Steppage gait, Distal lower limb muscle weakness, Postexertional symptom exacerbati...	OMIM:615290
Mitochondrial Complex I Deficiency, Nuclear Type 14	Biventricular hypertrophy, Decreased activity of mitochondrial complex I, Myopathy, Hypertrophic ...	OMIM:618236
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Congenital Myopathy 23	Kyphoscoliosis, Difficulty walking, Facial diplegia, Waddling gait, Scapular winging, Nemaline bo...	OMIM:609285
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Immune-Mediated Necrotizing Myopathy	Myocarditis, Congestive heart failure, Myositis, Scapular winging, EMG: myopathic abnormalities, ...	ORPHA:206569
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Clinodactyly of the 5th finger, Bradycardia, Joint contracture of the 5th finger, Truncal ataxia,...	OMIM:614407
Muscular Dystrophy, Limb-Girdle, Type 1H	Muscular dystrophy, Calf muscle hypertrophy, Centrally nucleated skeletal muscle fibers, Shoulder...	OMIM:613530
Oculopharyngeal Muscular Dystrophy 1	Ragged-red muscle fibers, Facial palsy, Gait disturbance, Limb muscle weakness	OMIM:164300
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs	ORPHA:1878
Long Qt Syndrome 15	2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi...	OMIM:616249
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Scoliosis, Hyperlordosis, Rimmed vacuoles, Kyphosis, Increased variability in mu...	OMIM:300718
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Spinal Muscular Atrophy, Type Iii	Pelvic girdle muscle weakness, Distal amyotrophy, Spinal muscular atrophy, Shoulder girdle muscle...	OMIM:253400
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Hypocalcemic seizures, Decreased circulati...	OMIM:241410
Autosomal Recessive Progressive External Ophthalmoplegia	Exercise intolerance, Distal sensory impairment, Ragged-red muscle fibers, Scapular winging, Faci...	ORPHA:254886
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Hypertension,...	OMIM:540000
Combined Oxidative Phosphorylation Deficiency 18	Increased mitochondrial number, Decreased activity of mitochondrial complex I, Tremor, Skeletal m...	OMIM:615578
Interstitial Nephritis, Karyomegalic	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:614817
Congenital Muscular Dystrophy Due To Lmna Mutation	Congestive heart failure, Cachexia, Flexion contracture, Skeletal muscle atrophy, Arrhythmia, Myo...	ORPHA:157973
Roussy-Lévy Syndrome	Limb ataxia, Kyphoscoliosis, Somatic sensory dysfunction, Difficulty walking, Impaired temperatur...	ORPHA:3115
Amyotrophic Lateral Sclerosis 28	Difficulty walking, Rimmed vacuoles, Upper limb muscle weakness, Fiber type grouping, Skeletal mu...	OMIM:620452
Kennedy Disease	Abnormal circulating lipid concentration, Erectile dysfunction, Type II diabetes mellitus, Decrea...	ORPHA:481
Long Qt Syndrome 16	Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ...	OMIM:618782
Infantile-Onset X-Linked Spinal Muscular Atrophy	Kyphoscoliosis, Ankle flexion contracture, Abnormal anterior horn cell morphology, Inflammatory m...	ORPHA:1145
Spinal Muscular Atrophy, Infantile, James Type	Distal amyotrophy, Increased variability in muscle fiber diameter, Hip contracture, Type 1 muscle...	OMIM:619042
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Atrioventricular canal defect, Triphalangeal thumb, Abnormal meta...	ORPHA:392
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Increased muscle glycogen content, Decreased circulating carnitine concentration, Ragged-red musc...	ORPHA:254864
Sick Sinus Syndrome 4	Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma...	OMIM:619464
Adult-Onset Distal Myopathy Due To Vcp Mutation	Decreased nerve conduction velocity, Difficulty walking, Urinary incontinence, Necrotizing myopat...	ORPHA:329478
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Bradycardia, Pulmonic stenosis, Arrhythmia, Abnormal heart morphology, Discordant atr...	ORPHA:216694
Acetyl-Coa Carboxylase-Alpha Deficiency	Myopathy	OMIM:613933
Myopathy, Myofibrillar, 8	Spinal rigidity, Central core regions in muscle fibers, Joint contracture of the 5th finger, Scol...	OMIM:617258
Barth Syndrome	Exercise intolerance, Fatigue, Gait disturbance, Abnormal mitochondrial morphology, Macrotia, Ske...	OMIM:302060
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Muscular dystrophy, Spinal rigidity, Ankle flexion contracture, Increased variability in muscle f...	OMIM:617072
Creatine Phosphokinase, Elevated Serum	Muscular dystrophy, Inflammatory myopathy, EMG: myopathic abnormalities, Fatigue, Abnormal muscle...	OMIM:123320
Calciphylaxis	Secondary hyperparathyroidism, Hyperphosphatemia	ORPHA:280062
Autosomal Dominant Centronuclear Myopathy	Large for gestational age, Proximal muscle weakness in upper limbs, Difficulty walking, Urinary i...	ORPHA:169189
Progressive Familial Heart Block, Type Ia	Complete heart block with broad QRS complexes, Left anterior fascicular block, Left posterior fas...	OMIM:113900
Loeffler Endocarditis	Left atrial enlargement, Abnormal morphology of the chordae tendinae of the mitral valve, Myocard...	ORPHA:75566
Combined Oxidative Phosphorylation Deficiency 28	Ragged-red muscle fibers, Abdominal pain, Decreased activity of mitochondrial complex I, Fatigue,...	OMIM:616794
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Foot dorsiflexor weakne...	OMIM:181400
Autoimmune Hypoparathyroidism	Hypocalcemic seizures, Hypocalcemia, Autoimmune hypoparathyroidism, Hypocalcemic tetany, Hyperpho...	ORPHA:36913
Tropical Endomyocardial Fibrosis	Left atrial enlargement, P pulmonale, Abnormal ST segment, Cachexia, Prolonged QRS complex, Cardi...	ORPHA:75565
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Rimmed vacuoles, Skeletal muscle fibrosis, Myofibrillar myopathy, Increased variability in muscle...	ORPHA:34516
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopathy	OMIM:618992
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Myopathy	ORPHA:88635
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,...	OMIM:601493
Congenital Myopathy 6 With Ophthalmoplegia	Muscle fiber inclusion bodies, Scapular winging, Congenital contracture, Increased variability in...	OMIM:605637
Distal Myotilinopathy	Distal amyotrophy, Cardiomyopathy, EMG: myopathic abnormalities, Abnormal muscle fiber myotilin, ...	ORPHA:98911
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Brachydactyly, Arrhythmia, Dil...	ORPHA:168796
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Exercise intolerance, Ragged-red muscle fibers, EMG: myopathic abnormalities, Fatigue, Hypertroph...	OMIM:615418
Timothy Syndrome	Prolonged QT interval, Cardiomegaly, Bradycardia, Sudden death, Patent foramen ovale, Ventricular...	OMIM:601005
Myopathy, Distal, With Anterior Tibial Onset	Myopathy	OMIM:606768
Pseudohypoparathyroidism, Type Ia	Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypothyroidism, Hypocal...	OMIM:103580
Myopathy, Myofibrillar, 4	Muscle fiber splitting, Cardiomyopathy, Autophagic vacuoles, EMG: myopathic abnormalities, Myofib...	OMIM:609452
Zebra Body Myopathy	Muscle fiber splitting, Torticollis, Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnorma...	ORPHA:97240
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia	OMIM:141000
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal lower limb muscle weakness, Scoliosis, Hyperlordosis, Elbow flexion contracture, Spinal mu...	OMIM:600175
Amyotrophic Lateral Sclerosis 27, Juvenile	Tip-toe gait, Steppage gait, Scoliosis, Hyperlordosis, Scapular winging, Gait disturbance, Intrin...	OMIM:620285
Fingerprint Body Myopathy	Myopathy	OMIM:305550
Batten-Turner Congenital Myopathy	Myopathy	OMIM:255300
Neuropathy, Ataxia, And Retinitis Pigmentosa	Ataxia, Myopathy	OMIM:551500
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology, Spastic gait	OMIM:611637
Spinocerebellar Ataxia 28	Limb ataxia, Ragged-red muscle fibers, Abnormal activity of mitochondrial respiratory chain, Gait...	OMIM:610246
Pseudohypoparathyroidism Type 1B	Decreased response to growth hormone stimulation test, Hypocalcemic seizures, Elevated circulatin...	ORPHA:94089
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Sensorineural hearing impairment, Positive Romberg sign, Cardiomyopathy, Impaired distal vibratio...	OMIM:258450
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Finnish Upper Limb-Onset Distal Myopathy	Distal sensory impairment, Amyotrophy of ankle musculature, Rimmed vacuoles, Split hand, EMG: myo...	ORPHA:399086
Juvenile Amyotrophic Lateral Sclerosis	Urinary incontinence, Lower-limb joint contracture, Chorea, Cachexia, Cognitive impairment, Head ...	ORPHA:300605
Congenital Disorder Of Glycosylation, Type Iid	Decreased muscle mass, Myopathy	OMIM:607091
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Scoliosis, Hyperlordos...	OMIM:253700
Myopathy With Lactic Acidosis, Hereditary	Exercise intolerance, Decreased activity of mitochondrial complex I, Decreased activity of mitoch...	OMIM:255125
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Exercise intolerance, Exercise-induced myalgia, Muscle fiber necrosis, Increased variability in m...	OMIM:620138
Central Core Disease	Type 1 muscle fiber predominance, Pelvic girdle muscle weakness, Central core regions in muscle f...	ORPHA:597
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Muscle fiber splitting, Muscular dystrophy, Decreased compound muscle action potential amplitude,...	OMIM:603511
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay...	ORPHA:52901
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cachexia, Exercise-induced myalgia, Fatigue, Ataxia, Distal arthrogryposis, Skeletal muscle atrop...	ORPHA:42
Charcot-Marie-Tooth Disease Type 1A	Kyphoscoliosis, Decreased sensory nerve conduction velocity, Distal sensory impairment, Gait imba...	ORPHA:101081
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrial septal defect, Prolonged QT interval, Patent foramen ovale, Pain, Exercise-induced rhabdom...	ORPHA:26793
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n...	OMIM:300539
Idiopathic Achalasia	Chest pain, Weight loss	ORPHA:930
X-Linked Charcot-Marie-Tooth Disease Type 5	Optic atrophy, Abnormal nerve conduction velocity, Skeletal muscle hypertrophy, Impaired pain sen...	ORPHA:99014
Dystonia-Aphonia Syndrome	Oromandibular dystonia, Abnormal mitochondrial shape, Gait disturbance, Cognitive impairment, Uns...	ORPHA:412217
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Steppage gait, Distal sensory impairment, Scoliosis, Distal amyotrophy, Upper limb muscle weaknes...	OMIM:608340
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Atrial septal defect, Reduced left ventricular ejection fraction, Prema...	OMIM:620247
Renal Tubular Acidosis, Distal, 1	Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia	OMIM:179800
Aids Wasting Syndrome	Cachexia, Weight loss	ORPHA:90081
Combined Oxidative Phosphorylation Defect Type 27	Ragged-red muscle fibers, Decreased activity of mitochondrial complex I, Pain, Hearing impairment...	ORPHA:477774
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Exercise intolerance, Patent foramen ovale, Generalized amyotrophy, Slender build, Myalgia, Pelvi...	OMIM:615156
Myopathy, Myofibrillar, 2	Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Hypertrophic cardiomyop...	OMIM:608810
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	Ragged-red muscle fibers, Exercise intolerance, Facial palsy, EMG: myopathic abnormalities	OMIM:609283
Myopathy, Myofibrillar, 6	Muscular dystrophy, Distal sensory impairment, Restrictive cardiomyopathy, Facial palsy, Scapular...	OMIM:612954
Mitochondrial Dna Depletion Syndrome 11	Exercise intolerance, Spinal rigidity, Ragged-red muscle fibers, Decreased activity of mitochondr...	OMIM:615084
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Spinal rigidity, Scoliosis, Increased variability in muscle fiber diameter, Loss of ambulation, F...	OMIM:300717
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Sensorineural hearing impairment, Distal amyotrophy,...	OMIM:619473
Mitochondrial Myopathy, Infantile, Transient	Increased muscle glycogen content, Decreased circulating carnitine concentration, Ragged-red musc...	OMIM:500009
Huntington Disease-Like 2	Memory impairment, Chorea, Gait disturbance, Dystonia, Weight loss, Dementia	ORPHA:98934
Pseudohypoaldosteronism, Type Iia	Hyperkalemia	OMIM:145260
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Muscular dystrophy, Chorea, Truncal ataxia, Muscle fiber atrophy, Myalgia, Limb-girdle muscular d...	ORPHA:369840
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency	Myopathy	OMIM:616314
Carbamoyl-Phosphate Synthetase 1 Deficiency	Hyperammonemia, Episodic ammonia intoxication, Aminoaciduria, Hypoargininemia	ORPHA:147
Congenital Myopathy 4B, Autosomal Recessive	Distal lower limb muscle weakness, Facial diplegia, EMG: myopathic abnormalities, Nemaline bodies...	OMIM:609284
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Type 1 muscle fiber predominance, Shoulder flexion contracture, Nemaline bodies, Hip contracture,...	OMIM:605355
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperkalemia, Hyponatremia, Increased circulating renin level	OMIM:620126
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans	Myopathy, Scapulohumeral muscular dystrophy	OMIM:160570
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:2597
Congenital Myopathy 10A, Severe Variant	Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosis, Camptodactyly of finger, Incre...	OMIM:614399
Nemaline Myopathy 7	Weakness of facial musculature, Nemaline bodies, Limb muscle weakness, Knee flexion contracture, ...	OMIM:610687
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Left ventricular systolic dysfunction, Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Sc...	ORPHA:353
Short Chain Acyl-Coa Dehydrogenase Deficiency	Failure to thrive, Cardiomyopathy, Myopathy	ORPHA:26792
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Bradycardia, Nemaline bodies, Increased variability in muscle fiber diameter, Weakness of facial ...	OMIM:620265
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyperkalemia, Hyponatremia, Increased circulating renin level	OMIM:620125
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
Spastic Paraplegia 46, Autosomal Recessive	Spastic gait, Urinary incontinence, Dementia, Upper limb dysmetria, Scoliosis, Impaired vibration...	OMIM:614409
Primary Lateral Sclerosis, Juvenile	Spastic gait, Decreased compound muscle action potential amplitude, Abnormal upper motor neuron m...	OMIM:606353
Atrial Septal Defect, Ostium Secundum Type	Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric...	ORPHA:99103
Carnitine-Acylcarnitine Translocase Deficiency	Bradycardia, Ventricular hypertrophy, Cardiac arrest, Cardiomyopathy, Premature ventricular contr...	OMIM:212138
Pseudohypoaldosteronism, Type Iib	Hyperkalemia, Hyperchloremia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperkalemia, Hyperchloremia	OMIM:614495
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	Muscular dystrophy, Calf muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Quadrice...	OMIM:611307
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Oculopharyngodistal Myopathy	Abnormality of orbicularis oris muscle, Proximal muscle weakness in upper limbs, Difficulty walki...	ORPHA:98897
Myasthenic Syndrome, Congenital, 25, Presynaptic	Flexion contracture, Generalized amyotrophy, Myopathy	OMIM:618323
Myasthenic Syndrome, Congenital, 5	Limb muscle weakness, Decreased muscle mass, Type 1 muscle fiber predominance, Myopathy, Type 2 m...	OMIM:603034
Sanjad-Sakati Syndrome	Hypoparathyroidism, Congenital hypoparathyroidism, Hypoplasia of penis, Hypocalcemia, Hyperphosph...	ORPHA:2323
Cardiomyopathy, Dilated, 2G	Left atrial enlargement, Aortic regurgitation, Paroxysmal ventricular tachycardia, Myocardial sar...	OMIM:619897
Ullrich Congenital Muscular Dystrophy	Spinal rigidity, Torticollis, Scoliosis, Elbow flexion contracture, EMG: myopathic abnormalities,...	ORPHA:75840
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Exercise intolerance, Ragged-red muscle fibers, Decreased activity of mitochondrial complex I, Hy...	OMIM:613561
Brugada Syndrome 2	Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree...	OMIM:611777
Long Qt Syndrome 14	2:1 atrioventricular block, Prolonged QT interval, Sudden death, Prolonged QTc interval, T-wave a...	OMIM:616247
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Boucher-Neuhauser Syndrome	Abnormal upper motor neuron morphology, Distal amyotrophy, Intention tremor, Gait ataxia, Ataxia	OMIM:215470
Spinocerebellar Ataxia Type 32	Male infertility, Testicular atrophy, Azoospermia	ORPHA:276183
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Inability to walk, Calf muscle hypertrophy, Thoracic kyphosis, Elbow flexion contracture, Abnorma...	ORPHA:206546
Myofibrillar Myopathy 10	Ankle flexion contracture, Sandal gap, Postexertional symptom exacerbation, Prolonged QTc interva...	OMIM:619040
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy, Hypertrophic cardiomyopathy	ORPHA:1369
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Facial myokymia, Kyphosis, Eczematoid dermatitis, Failure to thrive, Ataxia, Attention deficit hy...	OMIM:620007
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Inability to walk, Broad-based gait, Sensorineural hearing impairment, Scoliosis, Waddling gait, ...	OMIM:616756
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Ulnar deviated club hands, Genu valgum, Postexertional...	ORPHA:166002
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Muscle fiber splitting, Calf muscle hypertrophy, Rimmed vacuoles, Scapular winging, Myofibrillar ...	OMIM:603689
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Muscular dystrophy, Bradycardia, Atrial fibrillation, Increased variability in muscle fiber diame...	OMIM:614302
Duane Anomaly-Myopathy-Scoliosis Syndrome	Myopathy	ORPHA:50817
Hypotonia, Infantile, With Psychomotor Retardation	Increased variability in muscle fiber diameter, Ventricular septal defect, Myopathy	OMIM:616816
Benign Samaritan Congenital Myopathy	Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers	ORPHA:324581
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Tip-toe gait, Muscular dystrophy, Difficulty walking, Scoliosis, Hyperlordosis, Facial palsy, Cal...	OMIM:606612
Myopathy, Centronuclear, 5	Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Hip contracture, Weakness of ...	OMIM:615959
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Ambiguous genitalia, male, Hypoplasia of penis, Abnormality of the endocrine system, Bifid scrotu...	ORPHA:753
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Decreased n...	OMIM:618138
Amyotrophic Lateral Sclerosis 5, Juvenile	Urinary incontinence, Distal amyotrophy, Cognitive impairment, Abnormal lower motor neuron morpho...	OMIM:602099
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Parathyroid hyperplasia, Hyperphosphatemia, Hypercalcemia, Elevated circulating parathyroid hormo...	OMIM:617994
Combined Oxidative Phosphorylation Deficiency 31	Hypertrophic cardiomyopathy, Increased variability in muscle fiber diameter, Failure to thrive, I...	OMIM:617228
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Exercise intolerance, Spinal muscular atrophy, Skeletal muscle atrophy, Chronic fatigue, Weakness...	ORPHA:254875
Congenital-Onset Steinert Myotonic Dystrophy	Encopresis, Facial hypotonia, Abdominal pain, Decreased body weight, Obesity, Bundle branch block...	ORPHA:589821
46,Xy Complete Gonadal Dysgenesis	Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis	ORPHA:242
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy	ORPHA:366
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Muscular dystrophy, Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, S...	ORPHA:300751
Sick Sinus Syndrome 1	Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove...	OMIM:608567
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Exercise intolerance, Exercise-induced myalgia, Ventricular hypertrophy, Cardiomyopathy, Episodic...	ORPHA:228305
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Abnormal atrioventricular conduction, Exercise intolerance, Limb dysmetria, Exercise-induced myal...	ORPHA:329336
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10	Hammertoe, Increased variability in muscle fiber diameter, Increased endomysial connective tissue...	OMIM:620542
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Tip-toe gait, Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Gait disturbance, Proximal amy...	OMIM:617404
Myopathy, X-Linked, With Excessive Autophagy	Muscle fiber necrosis, Skeletal muscle autophagosome accumulation, Skeletal muscle atrophy, Flexi...	OMIM:310440
Combined Oxidative Phosphorylation Defect Type 13	Ankle flexion contracture, Decreased nerve conduction velocity, Type 1 muscle fiber predominance,...	ORPHA:319514
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea	OMIM:614858
Chronic Hiccup	Recurrent singultus, Weight loss	ORPHA:396
Carnitine Deficiency, Systemic Primary	Congestive heart failure, Decreased circulating carnitine concentration, Reduced muscle carnitine...	OMIM:212140
Osteopetrosis, Autosomal Recessive 9	Hyperkalemia, Elevated circulating creatinine concentration	OMIM:620366
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Elevated circulating parathyroid hormone level, Hypophosphatemia	OMIM:619073
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ...	OMIM:615616
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter, Failure to thrive, Cardiomyopathy	OMIM:613752
Congenital Myopathy 2A, Typical, Autosomal Dominant	Spinal rigidity, Scoliosis, Hyperlordosis, Waddling gait, Facial palsy, Nemaline bodies, Limb mus...	OMIM:161800
Mosaic Variegated Aneuploidy Syndrome 4	Abnormality of chromosome stability	OMIM:620153
Lyme Disease	Fatigue, Arthralgia, Arrhythmia, Atrioventricular block, Myalgia, Paresthesia	ORPHA:91546
Miyoshi Muscular Dystrophy 1	Tip-toe gait, Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Distal amyotro...	OMIM:254130
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Cardiomyopathy, Increased variability in muscle fiber diameter, Pelvic g...	ORPHA:119
Autosomal Dominant Optic Atrophy Plus Syndrome	Cardiomyopathy, Fatigue, Limb-girdle muscle weakness, Ataxia, Myopathy	ORPHA:1215
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Fatigue, Increased vari...	OMIM:613157
Laryngeal Neuroendocrine Tumor	Chronic fatigue, Weight loss	ORPHA:100083
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Ragged-red muscle fibers, Scoliosis, Exercise-induced myalgia, Rhabdomyolysis, Dystonia, Ataxia, ...	OMIM:618416
Combined Oxidative Phosphorylation Deficiency 33	Exercise intolerance, Decreased activity of mitochondrial complex I, Cardiomyopathy, Cardiac arre...	OMIM:617713
Congenital Myasthenic Syndromes With Glycosylation Defect	Difficulty walking, Ragged-red muscle fibers, Scoliosis, Waddling gait, Facial palsy, Scapular wi...	ORPHA:353327
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612924
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Frontotemporal dementia, S...	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Frontotemporal dementia, S...	OMIM:616437
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Frontotemporal dementia, Depression, Skeletal muscle atrophy, Dementia, Abnormal lower motor neur...	OMIM:105550
Nemaline Myopathy 8	Facial palsy, Flexion contracture, Nemaline bodies, Myofibrillar myopathy	OMIM:615348
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Myopathy, Arterial rupture, Skeletal muscle atrophy	ORPHA:300179
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Depression, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue	ORPHA:663
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Exercise intolerance, Ragged-red muscle fibers, Sensorineural hearing impairment, Fatigue, Gait d...	ORPHA:1349
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hypercalcemia, Hyperphosphatemia, Hyperparathyroidism	OMIM:211900
Isolated Succinate-Coq Reductase Deficiency	Abnormal atrioventricular conduction, Noncompaction cardiomyopathy, Distal amyotrophy, Hypertroph...	ORPHA:3208
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Distal lower limb muscle weakness, Dysdiadochokinesis, Thenar muscle atrophy, Fiber type grouping...	OMIM:619903
Glycogen Storage Disease Iii	Distal amyotrophy, Ventricular hypertrophy, Cardiomyopathy, Myopathy	OMIM:232400
Myopathy, Myofibrillar, 7	Spinal rigidity, Urinary incontinence, Bowel incontinence, Increased Z-disc width, Difficulty wal...	OMIM:617114
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased sensory nerve conduction velocity, Abnormality of the mitochondrion, Ragged-red muscle ...	ORPHA:298
Pseudohypoaldosteronism, Type Iie	Hyperkalemia, Hyperchloremia	OMIM:614496
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Muscular dystrophy, Torticollis, Increased variability in muscle fiber diameter, Skeletal muscle ...	OMIM:613204
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Ankle flexion contracture, Sensorineural hearing impairment, Scoliosis, Type 1 muscle fiber atrop...	OMIM:617519
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness	OMIM:605809
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612926
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Exercise intolerance, Difficulty walking, Broad-based gait, Ragged-red muscle fibers, Positive Ro...	OMIM:616479
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Ragged-red muscle fibers, Abnormal mitochondrial shape, Sensorineural hearing impairment, Decreas...	ORPHA:17
Congenital Myopathy 14	Knee flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diamet...	OMIM:618414
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Decreased activity of mitochondrial complex IV	OMIM:619063
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Gait ataxia, Failure to thrive, Progressive neurologic deterioration, Weight loss, Decr...	OMIM:612075
Familial Idiopathic Dilatation Of The Right Atrium	Paroxysmal atrial fibrillation, Cardiomegaly, Reduced left ventricular ejection fraction, Abnorma...	ORPHA:1677
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology, Motor conduction block	DECIPHER:31
Acyl-Coa Dehydrogenase 9 Deficiency	Congestive heart failure, Cerebellar hemorrhage, Decreased circulating carnitine concentration, D...	ORPHA:99901
Spinocerebellar Ataxia 48	Irritability, Urinary incontinence, Depression, Chorea, Cachexia, Tremor, Gait ataxia, Dystonia, ...	OMIM:618093
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Increased variability in muscle fiber diameter, Ataxia, Myopathy	OMIM:125250
Polyglucosan Body Neuropathy, Adult Form	Urinary incontinence, Distal sensory impairment, Orthostatic hypotension, Abnormal upper motor ne...	OMIM:263570
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Elevated circulating creatine kinase concentration, Decreased fertility, Testicular atrophy	OMIM:313200
Glycogen Storage Disease Due To Aldolase A Deficiency	EMG: myopathic abnormalities, Skeletal myopathy, Muscle fiber atrophy, Exercise-induced rhabdomyo...	ORPHA:57
Corticosterone Methyloxidase Type Ii Deficiency	Hyperkalemia, Hyponatremia, Increased circulating renin level	OMIM:610600
Autosomal Recessive Spastic Paraplegia Type 53	Impaired proprioception, Limb dystonia, Kyphosis, Hearing impairment, Failure to thrive, Impaired...	ORPHA:319199
Sandhoff Disease	Progressive psychomotor deterioration, Kyphosis, Hearing impairment, Failure to thrive, Ataxia, M...	ORPHA:796
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Left ventricular systolic dysfunction, Calf muscle hypertrophy, Right bundle branch block, Scapul...	ORPHA:206559
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Urinary incontinence, Memory impairment, Abnormal upper motor neuron morphology, Gait disturbance...	OMIM:221770
Scapuloperoneal Spinal Muscular Atrophy	Muscle fiber splitting, Peroneal muscle weakness, Distal sensory impairment, Torticollis, Broad-b...	OMIM:181405
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur...	OMIM:610193
Horizontal Gaze Palsy With Progressive Scoliosis	Sensorineural hearing impairment, Scoliosis, Kyphosis, Cognitive impairment, Short neck	ORPHA:2744
Neurodegeneration With Brain Iron Accumulation 4	Optic atrophy, Oromandibular dystonia, Depression, Emotional lability, Distal amyotrophy, Tremor,...	OMIM:614298
Congenital Muscular Dystrophy, Fukuyama Type	Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion con...	ORPHA:272
Juvenile Huntington Disease	Irritability, Progressive cerebellar ataxia, Broad-based gait, Depression, Chorea, Gait ataxia, D...	ORPHA:248111
Uremic Pruritus	Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia	ORPHA:94059
Pseudohypoaldosteronism Type 2	Hyperkalemia	ORPHA:757
Myopathic Ehlers-Danlos Syndrome	Kyphoscoliosis, Hyperlordosis, Kyphosis, Congenital finger flexion contractures, Tip-toe gait, Co...	ORPHA:536516
Kearns-Sayre Syndrome	Ragged-red muscle fibers, Cardiomyopathy, Ataxia, Arrhythmia, Third degree atrioventricular block	OMIM:530000
Lipodystrophy, Congenital Generalized, Type 4	Exercise intolerance, Spinal rigidity, Muscular dystrophy, Skeletal muscle hypertrophy, Scoliosis...	OMIM:613327
Corticosterone Methyloxidase Type I Deficiency	Hyperkalemia, Hyponatremia, Increased circulating renin level	OMIM:203400
Polymyositis	Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Myoc...	ORPHA:732
Ataxia-Oculomotor Apraxia Type 4	Kyphoscoliosis, Muscular dystrophy, Distal lower limb muscle weakness, Progressive distal muscula...	ORPHA:459033
Huntington Disease-Like 2	Irritability, Memory impairment, Subcortical dementia, Depression, Chorea, Action tremor, Dystoni...	OMIM:606438
Neonatal Lupus Erythematosus	Heart block, Prolonged QT interval, Abnormal heart morphology, Arrhythmia, Atrioventricular block...	ORPHA:398124
Genetic Recurrent Myoglobinuria	Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia	ORPHA:99845
Familial Progressive Cardiac Conduction Defect	Congestive heart failure, Heart block, Abdominal pain, Bundle branch block, Arrhythmia, Syncope	ORPHA:871
Oculopharyngodistal Myopathy 4	Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnormalities, Increased variability in musc...	OMIM:619790
Myasthenic Syndrome, Congenital, 12	Waddling gait, Ragged-red muscle fibers, Proximal amyotrophy, Facial palsy	OMIM:610542
Liposarcoma	Abdominal pain, Weight loss, Fatigue	ORPHA:69078
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Exercise intolerance, Bradycardia, Ragged-red muscle fibers, Cardiomyopathy, EMG: myopathic abnor...	OMIM:609286
Hypoadrenocorticism, Familial	Hyperkalemia, Hyponatremia	OMIM:240200
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss, Fatigue	ORPHA:86893
Amyotrophic Lateral Sclerosis 16, Juvenile	Loss of ambulation, Amyotrophic lateral sclerosis, Weakness of the intrinsic hand muscles, Lower ...	OMIM:614373
Myopathy, Distal, 3	Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles, Split hand, EMG: myopathic abnormalities,...	OMIM:610099
Acrodysostosis 1 With Or Without Hormone Resistance	Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ...	OMIM:101800
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypocystinemia, Hypohomocysteinemia	OMIM:617744
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Congenital Myopathy 15	Camptodactyly, Tricuspid regurgitation, Increased variability in muscle fiber diameter, Weakness ...	OMIM:620161
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612925
Lipodystrophy, Familial Partial, Type 6	Muscular dystrophy, Hypertension, Skeletal muscle atrophy, Abdominal obesity, Myopathy, Lower lim...	OMIM:615980
Mitochondrial Myopathy, Lethal, Infantile	Myopathy	OMIM:551000
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia, Hyperuricemia	OMIM:613845
Pseudohypoaldosteronism, Type Iic	Hyperkalemia, Decreased circulating renin level, Hyperchloremia	OMIM:614492
Parastremmatic Dwarfism	Short neck, Scoliosis, Flexion contracture, Kyphosis	OMIM:168400
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Severe X-Linked Mitochondrial Encephalomyopathy	Increased variability in muscle fiber diameter, Skeletal muscle atrophy	ORPHA:238329
Striatonigral Degeneration, Infantile, Mitochondrial	Difficulty walking, Ragged-red muscle fibers, Chorea, Lingual dystonia, Paroxysmal choreoathetosis	OMIM:500003
Vocal Cord And Pharyngeal Distal Myopathy	Decreased nerve conduction velocity, Difficulty walking, Distal sensory impairment, Abnormality o...	ORPHA:600
Isolated Right Ventricular Hypoplasia	Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Muscular ven...	ORPHA:439
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal QRS complex, Large for gestational age, Reduced le...	ORPHA:45452
Isolated Glycerol Kinase Deficiency	Myopathy	ORPHA:408
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Ragged-red muscle fibers, Sensorineural hearing impairment, Rhabdomyolysis, Skeletal muscle atrop...	OMIM:617070
Mitochondrial Complex I Deficiency, Nuclear Type 29	Exercise intolerance, Exercise-induced myalgia, Decreased activity of mitochondrial complex I, Fa...	OMIM:618250
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Skeletal muscle hypertrophy, Myalgia, Macroglossia, Myopathy	ORPHA:2349
Spinocerebellar Ataxia With Epilepsy	Progressive cerebellar ataxia, Dysdiadochokinesis, Gait ataxia, Myopathy, Dysmetria	ORPHA:254881
Cardiomyopathy, Familial Hypertrophic, 11	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc...	OMIM:612098
Spinal Muscular Atrophy, X-Linked 2	Facial palsy, Spinal muscular atrophy, Arthrogryposis multiplex congenita, Flexion contracture, M...	OMIM:301830
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Tip-toe gait, Muscular dystrophy, Difficulty walking, Scoliosis, Hyperlordosis, Waddling gait, Ca...	OMIM:607155
Congenital Myopathy 10B, Mild Variant	Increased endomysial connective tissue, Generalized limb muscle atrophy, Difficulty walking, Type...	OMIM:620249
Amyotrophic Lateral Sclerosis 4, Juvenile	Difficulty walking, Decreased compound muscle action potential amplitude, Pallor of dorsal column...	OMIM:602433
Kenny-Caffey Syndrome, Type 2	Hypocalcemia, Hyperphosphatemia, Hypoparathyroidism, Transient hypophosphatemia	OMIM:127000
Spastic Paraplegia 9A, Autosomal Dominant	Spastic gait, Urinary incontinence, Abnormal upper motor neuron morphology, Resting tremor, Gait ...	OMIM:601162
Cap Myopathy	Tip-toe gait, Lower limb amyotrophy, Facial palsy, Increased variability in muscle fiber diameter...	ORPHA:171881
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Attrv122I Amyloidosis	Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection...	ORPHA:85451
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Left atrial enlargement, Restrictive cardiomyopathy, Facial palsy, Hypertrophic cardiomyopathy, R...	OMIM:619424
Pseudohypoparathyroidism Type 1C	Decreased response to growth hormone stimulation test, Calcinosis, Hypocalcemic seizures, Elevate...	ORPHA:79444
Bethlem Muscular Dystrophy	Spinal rigidity, Wrist flexion contracture, Limb-girdle muscle weakness, Quadriceps muscle weakne...	ORPHA:610
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Decreased cervical spine flexion due to contractures of posterior cervical muscles, Distal lower ...	ORPHA:254361
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Acute rhabdomyolysis, Flexion contracture of toe, Chorea, Scoliosis, Kyphosis, Intention tremor, ...	ORPHA:48431
Coenzyme Q10 Deficiency, Primary, 9	Type 2 muscle fiber predominance, Tremor, Short attention span, Ataxia, Impaired tandem gait, Dys...	OMIM:619028
Lethal Congenital Contracture Syndrome 5	Decreased nerve conduction velocity, Congenital contracture, Centrally nucleated skeletal muscle ...	OMIM:615368
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Gait disturbance, Cognitive impairment, Lower limb hypertonia, Dystonia, Impaired vibra...	OMIM:614898
Pfapa Syndrome	Abdominal pain, Arthralgia, Weight loss, Fatigue	ORPHA:42642
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Distal sensory impairment, Impaired pain sensation, Scoliosis, Kyphosis, Obesity, Unsteady gait, ...	OMIM:618124
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Patent foramen ovale, Athetosis, Hypertension, Ventricular septal defect, Pulmonary arterial hype...	OMIM:615474
Glycogen Storage Disease Xv	Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Scapular win...	OMIM:613507
Fabry Disease	Abnormal femur morphology, Hypertension, Left ventricular hypertrophy, Acroparesthesia, Abdominal...	ORPHA:324
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
Ullrich Congenital Muscular Dystrophy 1A	Muscular dystrophy, Spinal rigidity, Reduced muscle collagen VI, Torticollis, Scoliosis, Facial p...	OMIM:254090
Renal Tubular Acidosis, Proximal	Elevated circulating creatinine concentration	OMIM:179830
Hyperaldosteronism, Familial, Type Ii	Hypokalemia	OMIM:605635
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Bicuspid aortic valve, Carpal osteolysis, Osteolysis involving bones of the lower limbs, Osteolys...	ORPHA:371428
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ...	OMIM:608758
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Chorea, Truncal ataxia, Right ventricular dilatation, Myalgia, Limb-girdle muscular dystrophy, My...	ORPHA:369847
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi...	ORPHA:45453
Nephronophthisis 2	Hyperkalemia, Elevated circulating creatinine concentration	OMIM:602088
Riboflavin Transporter Deficiency	Abnormal cranial nerve morphology, Cachexia, Progressive hearing impairment, Tremor, Facial palsy...	ORPHA:97229
Cardiomyopathy, Familial Hypertrophic, 16	Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril...	OMIM:613838
Combined Oxidative Phosphorylation Deficiency 19	Mitochondrial swelling, Increased variability in muscle fiber diameter, Failure to thrive	OMIM:615595
Adducted Thumbs Syndrome	Arthrogryposis multiplex congenita, Myopathy	OMIM:201550
Developmental And Epileptic Encephalopathy 101	Limb joint contracture, Third degree atrioventricular block, Bradycardia	OMIM:619814
46,Xx Sex Reversal 4	Gonadal dysgenesis, Clitoral hypertrophy, Retractile testis, Penoscrotal hypospadias, Ovotestis, ...	OMIM:617480
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cardiac arrest, Hypertrophic cardiomyopathy, Increased variability in muscle fiber diameter, Myof...	OMIM:604377
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Exercise intolerance, Fatigue, Gait ataxia, Ataxia, Myopathy	OMIM:613077
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Familial Isolated Hyperparathyroidism	Elevated circulating parathyroid hormone level, Primary hyperparathyroidism, Hypercalcemia, Parat...	ORPHA:99879
Hyperkalemic Periodic Paralysis	Congestive heart failure, Skeletal muscle hypertrophy, Bowel incontinence, Flexion contracture, S...	ORPHA:682
Drug-Induced Lupus Erythematosus	Increased blood urea nitrogen, Elevated circulating creatine kinase concentration, Elevated circu...	ORPHA:231111
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic seizures, Abnormal circulating follicle-stimulating hormone concentration, Congenita...	ORPHA:93325
Glutamate-Cysteine Ligase Deficiency	Ataxia, Myopathy	ORPHA:33574
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Follicular Lymphoma	Night sweats, Weight loss, Fatigue	ORPHA:545
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Proximal amyotrophy, Amyotrophic lateral sclerosis, Gait disturbance	OMIM:608030
Glycogen Storage Disease X	Exercise intolerance, Rhabdomyolysis, Myopathy, Exercise-induced myalgia	OMIM:261670
46,Xy Sex Reversal 8	Ambiguous genitalia, Cryptorchidism, Sex reversal, Male pseudohermaphroditism	OMIM:614279
Congenital Muscular Dystrophy Without Intellectual Disability	Muscular dystrophy, Fatty replacement of skeletal muscle, Limb-girdle muscle atrophy, Facial dipl...	ORPHA:370980
Muscular Dystrophy, Congenital, Lmna-Related	Proximal upper limb amyotrophy, Muscular dystrophy, Spinal rigidity, Upper limb muscle weakness, ...	OMIM:613205
Mast Cell Sarcoma	Weight loss, Fatigue	ORPHA:66661
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Flexion contracture, Cardiomyopathy, Myopathy, Nemaline bodies	OMIM:616549
Hypophosphatemic Rickets And Hyperparathyroidism	Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Parathyroid hyperplasia...	OMIM:612089
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyperkalemia, Hyponatremia, Increased circulating renin level	OMIM:177735
Hypophosphatasia, Childhood	Bowing of the legs, Myopathy	OMIM:241510
Lethal Congenital Contracture Syndrome 1	Widening of cervical spinal canal, Hypoplasia of the musculature, Skeletal muscle atrophy, Paucit...	OMIM:253310
46,Xy Sex Reversal 10	Gonadal dysgenesis, Ovotestis, Hypospadias, Perineal hypospadias, Bifid scrotum, Decreased testic...	OMIM:616425
Autosomal Dominant Progressive External Ophthalmoplegia	Facial diplegia, Gait ataxia, Ataxia, Left ventricular hypertrophy, Quadriceps muscle weakness, M...	ORPHA:254892
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia	OMIM:618528
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Increased variability in muscle fiber diameter, Ataxia, Gait ataxia	OMIM:617915
Histiocytoid Cardiomyopathy	Exercise intolerance, Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, C...	ORPHA:137675
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Late-Onset Familial Hypoaldosteronism	Hyperkalemia, Hyponatremia, Increased circulating renin level	ORPHA:556037
Amyotrophic Lateral Sclerosis	Progressive spinal muscular atrophy, Frontotemporal dementia, Depression, Emotional lability, Pro...	ORPHA:803
Acquired Partial Lipodystrophy	Arthralgia, Myopathy	ORPHA:79087
Spastic Paralysis, Infantile-Onset Ascending	Scoliosis, Abnormal lower motor neuron morphology, Urinary incontinence, Achilles tendon contracture	OMIM:607225
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Failure to thrive, Rhabdomyolysis, Arrhythmia, Small for gestational ag...	OMIM:609015
Mitochondrial Myopathy And Sideroblastic Anemia	Generalized limb muscle atrophy, Myopathy	ORPHA:2598
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Decreased body weight, Waddling gait, Kyphosis, Macrotia, Posteriorly rotated ears, Small for ges...	OMIM:618392
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Biventricular hypertrophy, Bradycardia, ST segment elevation, Cardiomyo...	OMIM:261740
X-Linked Immunoneurologic Disorder	Myopathy	ORPHA:2571
Amyotrophic Lateral Sclerosis 11	Somatic sensory dysfunction, Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, ...	OMIM:612577
Myopathy Due To Myoadenylate Deaminase Deficiency	Exercise-induced myalgia, Rhabdomyolysis, Skeletal muscle atrophy, Myopathy	OMIM:615511
Myotonic Dystrophy 1	Atrial fibrillation, First degree atrioventricular block, Facial diplegia, Atrial flutter	OMIM:160900
Peripartum Cardiomyopathy	Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro...	ORPHA:563
Huntington Disease	Irritability, Difficulty walking, Decreased body mass index, Gait imbalance, Inability to walk, M...	ORPHA:399
Leydig Cell Hypoplasia	Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal...	ORPHA:755
Amyotrophic Lateral Sclerosis 20	Muscular dystrophy, Rimmed vacuoles, Amyotrophic lateral sclerosis, Muscle fiber inclusion bodies	OMIM:615426
Heart Block, Congenital	Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri...	OMIM:234700
Gm1 Gangliosidosis	Abnormal form of the vertebral bodies, Hyperlordosis, Cardiomyopathy, Kyphosis, Cognitive impairm...	ORPHA:354
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypertension, Pulmonary arterial hypertension, Overriding aorta, Ventricular septal defect, Small...	OMIM:617021
Amyotrophic Lateral Sclerosis 8	Distal amyotrophy, Cognitive impairment, Proximal amyotrophy, Loss of ambulation, Skeletal muscle...	OMIM:608627
Fanconi Renotubular Syndrome 3	Elevated circulating creatinine concentration, Aminoaciduria	OMIM:615605
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyperkalemia, Hyponatremia	OMIM:264350
Congenital Multicore Myopathy With External Ophthalmoplegia	Internally nucleated skeletal muscle fibers, Muscular dystrophy, Tibialis anterior muscle atrophy...	ORPHA:98905
Flynn-Aird Syndrome	Impaired pain sensation, Cachexia, Scoliosis, Kyphosis, Ataxia, Skeletal muscle atrophy, Dementia...	ORPHA:2047
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ...	OMIM:613251
Orthostatic Hypotension 1	Increased blood urea nitrogen, Hypomagnesemia, Elevated circulating dihydroxyphenylacetic acid co...	OMIM:223360
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Chronic pain, Impaired proprioception, Truncal titubation, Positive Romberg sign, Scoliosis, Impa...	ORPHA:88628
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Machado-Joseph Disease Type 3	Progressive cerebellar ataxia, Memory impairment, Dystonia, Skeletal muscle atrophy, Progressive ...	ORPHA:276244
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Typical Nemaline Myopathy	Spinal rigidity, Scoliosis, Facial diplegia, Waddling gait, Facial palsy, Gait disturbance, Hyper...	ORPHA:171436
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Ragged-red muscle fibers, Scapular winging, Skeletal muscle atrophy, Weakness of facial musculature	OMIM:617069
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Left ventricular hypertrophy, Secundum atrial septal defect, Tetralogy of Fa...	OMIM:108900
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypertension, Athetosis, Ventricular hypertrophy, Pulmonary arterial hypertension, Epistaxis, Int...	ORPHA:369929
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Calcinosis, Hypocalcemic seizures, Elevate...	ORPHA:79443
Marinesco-Sjögren Syndrome	Muscular dystrophy, Abnormal metacarpal morphology, Abnormal finger morphology, Aplasia/Hypoplasi...	ORPHA:559
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Carcinoid Syndrome	Palpitations, Episodic abdominal pain, Tricuspid regurgitation, Facial telangiectasia, Right vent...	ORPHA:100093
Spinal Muscular Atrophy, Jokela Type	Difficulty walking, Distal sensory impairment, Calf muscle hypertrophy, Tremor, Spinal muscular a...	OMIM:615048
Dystonia 1, Torsion, Autosomal Dominant	Oromandibular dystonia, Inability to walk, Writer's cramp, Torticollis, Depression, Torsion dysto...	OMIM:128100
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Dpm3-Cdg	Muscular dystrophy, Pelvic girdle muscle weakness, Calf muscle hypertrophy, Rimmed vacuoles, Dila...	ORPHA:263494
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Aplasia/hypoplasia involving bones of the upper limbs, Bradycardia...	ORPHA:40366
Inflammatory Bowel Disease 11	Abdominal pain, Weight loss	OMIM:191390
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Congestive heart failure, Aortic regurgitation, Cardiomegaly, Truncal ataxia, Tricuspid regurgita...	OMIM:620066
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Congestive heart failure, Portal hypertension, Failure to thrive, Flexion contracture, Skeletal m...	ORPHA:367
Reticular Dysgenesis	Chronic otitis media, Abnormality of mitochondrial metabolism, Skin rash, Hearing impairment, Fai...	ORPHA:33355
Hereditary Continuous Muscle Fiber Activity	Spastic gait, Type 1 muscle fiber predominance, Ataxia, Congenital diaphragmatic hernia	ORPHA:972
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco...	OMIM:601494
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circulating renin l...	OMIM:241150
Intermediate Nemaline Myopathy	Facial diplegia, Facial palsy, EMG: myopathic abnormalities, Nemaline bodies, Arthrogryposis mult...	ORPHA:171433
Phosphoglycerate Kinase 1 Deficiency	Exercise intolerance, Rhabdomyolysis, Ataxia, Myopathy	OMIM:300653
Early-Onset Familial Hypoaldosteronism	Hyperkalemia, Hyponatremia, Increased circulating renin level	ORPHA:556030
Neuroleptic Malignant Syndrome	Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hy...	ORPHA:94093
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Distal amyotrophy, EMG: myopathic abnormalities, Upper limb muscle weakness, Somatic sensory dysf...	ORPHA:99939
Myoclonus, Intractable, Neonatal	Increased variability in muscle fiber diameter, Athetosis, Chorea	OMIM:617235
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Cardiomyopathy, Failure to thrive, Ataxia, Flexion contracture, Weakness of facial musculature, M...	OMIM:201470
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Distal amyotrophy, Amyotrophic lateral sclerosis, Dementia	OMIM:205200
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Scoliosis, Low-set ears, Kyphosis, Short neck, Flexion contracture, Minicore myopathy, Arthrogryp...	ORPHA:178148
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Patent foramen ovale, Spinal muscular atrophy, Increased variability in muscle fiber diameter, Fl...	OMIM:616867
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Myopathy	OMIM:230450
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia	OMIM:620152
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Optic atrophy, Abnormal mitochondrial shape, Gait ataxia, Failure to thrive, Ataxia	ORPHA:543470
Eosinophilic Fasciitis	Myositis, Arthritis, Muscular edema, Fatigue, Arthralgia, Weight loss, Myalgia, Fasciitis, Parest...	ORPHA:3165
Progressive Non-Fluent Aphasia	Frontotemporal dementia, Memory impairment, Depression, Abnormal lower motor neuron morphology, M...	ORPHA:100070
Focal Myositis	Myalgia, Weight loss	ORPHA:48918
Uruguay Faciocardiomusculoskeletal Syndrome	Kyphoscoliosis, Left atrial enlargement, Difficulty walking, Skeletal muscle hypertrophy, Scolios...	OMIM:300280
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic atrophy, Inability to walk, Scoliosis, Distal amyotrophy, Kyphosis, Exaggerated startle res...	OMIM:609541
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat...	OMIM:308700
Fetal Akinesia Deformation Sequence 4	Low-set ears, Camptodactyly, Kyphosis, Posteriorly rotated ears, Skeletal muscle atrophy, Short n...	OMIM:618393
Gm1-Gangliosidosis, Type Iii	Anterior beaking of lumbar vertebrae, Scoliosis, Kyphosis, Dystonia, Ataxia, Skeletal muscle atro...	OMIM:230650
Paget Disease Of Bone 5, Juvenile-Onset	Hyperphosphatemia, Hydroxyprolinemia, Hyperuricemia	OMIM:239000
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Isaacs Syndrome	Calf muscle hypertrophy, Distal sensory impairment, Weight loss	ORPHA:84142
Myopathy, Mitochondrial, And Ataxia	Limb ataxia, Difficulty walking, Distal sensory impairment, Inability to walk, Depression, Trunca...	OMIM:617675
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Second degree atrioventricular block, Ventricular fibrillation, Rhabdomyol...	ORPHA:79102
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Classic Pantothenate Kinase-Associated Neurodegeneration	Tip-toe gait, Generalized dystonia, Inability to walk, Gait disturbance, Cognitive impairment, As...	ORPHA:216866
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Congestive heart failure, Patent foramen ovale, Cardiomyopathy, Spinal muscular atrophy, Increase...	OMIM:616866
Mcleod Syndrome	Impaired vibration sensation at ankles, Atrial fibrillation, Chorea, Cardiomyopathy, Rhabdomyolys...	OMIM:300842
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertension, Ataxia, Myopathy, Gait ataxia	ORPHA:363400
Japanese Encephalitis	Pill-rolling tremor, Distal lower limb muscle weakness, Hyperintensity of MRI T2 signal of the sp...	ORPHA:79139
Pparg-Related Familial Partial Lipodystrophy	Congestive heart failure, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy,...	ORPHA:79083
Combined Oxidative Phosphorylation Deficiency 24	Ragged-red muscle fibers, Decreased activity of mitochondrial complex I, Skeletal muscle atrophy,...	OMIM:616239
Kallmann Syndrome With Spastic Paraplegia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:308750
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Distal sensory impairment, Increased variability in muscle fiber diameter, Skeletal muscle atroph...	OMIM:151800
Amish Nemaline Myopathy	Shoulder flexion contracture, EMG: myopathic abnormalities, Hip contracture, Proximal amyotrophy,...	ORPHA:98902
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Muscle fiber splitting, Muscular dystrophy, Increased variability in muscle fiber diameter, Mothe...	OMIM:226670
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia	OMIM:235400
Congenital Myopathy 16	Flexion contracture, Scapular winging, EMG: myopathic abnormalities	OMIM:618524
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Atrophy/Degeneration involving the spinal cord, Memory impairment, Depression, Ragged-red muscle ...	ORPHA:70595
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Weight loss	ORPHA:411593
Familial Partial Lipodystrophy, Dunnigan Type	Congestive heart failure, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy,...	ORPHA:2348
Autism Spectrum Disorder Due To Auts2 Deficiency	Joint contracture of the 5th finger, Scoliosis, Low-set ears, Kyphosis, Eczematoid dermatitis, Co...	ORPHA:352490
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Dementia	OMIM:105500
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Knee flexion contracture, Elbow flexion contracture, Increased variabi...	OMIM:619461
Hypouricemia, Renal, 1	Hypouricemia, Elevated circulating creatinine concentration	OMIM:220150
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyperkalemia, Hyponatremia	OMIM:614736
Amyotrophic Lateral Sclerosis 19	Loss of ambulation, Amyotrophic lateral sclerosis, Dementia	OMIM:615515
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Exercise intolerance, Generalized limb muscle atrophy, Ragged-red muscle fibers, Decreased activi...	OMIM:600462
Glycogen Storage Disease Ixd	Exercise intolerance, Increased muscle glycogen content, Glycogen accumulation in muscle fiber ly...	OMIM:300559
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Elbow flexion contractu...	OMIM:608840
Classic Multiminicore Myopathy	Muscular dystrophy, Spinal rigidity, Scoliosis, Generalized amyotrophy, Muscle fiber atrophy, Fai...	ORPHA:324604
Spinocerebellar Ataxia, Autosomal Recessive 8	Optic atrophy, Limb ataxia, Scoliosis, Abnormal autonomic nervous system physiology, Kyphosis, Ga...	OMIM:610743
Thymic Carcinoma	Chest pain, Weight loss, Fatigue	ORPHA:99868
Mitochondrial Trifunctional Protein Deficiency	Exercise intolerance, Congestive heart failure, Cardiomyopathy, Tricuspid regurgitation, Rigors, ...	ORPHA:746
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Emotional lability, Amyotrophic lateral sclerosis, Frontotemporal dementia, Skeletal muscle atrophy	OMIM:612069
Autosomal Dominant Optic Atrophy, Classic Form	Scapular winging, Fatigue, Ataxia, Skeletal muscle atrophy, Weakness of facial musculature, Myalg...	ORPHA:98673
Mulibrey Nanism	Cachexia	ORPHA:2576
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatinine concentrati...	OMIM:613095
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise	ORPHA:423
Mitochondrial Phosphate Carrier Deficiency	Abnormal mitochondrial shape, Hypertrophic cardiomyopathy	OMIM:610773
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Scoliosis, Gait disturbance, Kyphosis, Ataxia, Progressive neurologic deterioration, Protruding ear	ORPHA:85317
Sialidosis Type 2	Tremor, Kyphosis, Hearing impairment, Ataxia, Skeletal muscle atrophy, Flexion contracture	ORPHA:87876
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Difficulty walking, Urinary incontinence, Sensorineural hearing impairment, Scoliosis, Waddling g...	ORPHA:464282
Idiopathic Camptocormia	Syringomyelia, Fatty replacement of skeletal muscle, Myelitis, Frontotemporal dementia, Abnormal ...	ORPHA:1320
Familial Pseudohyperkalemia	Hyperkalemia	ORPHA:90044
Pelizaeus-Merzbacher Disease	Optic atrophy, Cachexia, Scoliosis, Gait disturbance, Bowel incontinence, Hearing impairment, Kyp...	ORPHA:702
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Kyphoscoliosis, Muscular dystrophy, Increased endomysial connective tissue, Flexion contracture	OMIM:607855
Leber Optic Atrophy	Ataxia, Myopathy, Arrhythmia	OMIM:535000
Cardiomyopathy, Familial Hypertrophic, 13	Biventricular hypertrophy, Left anterior fascicular block, Concentric hypertrophic cardiomyopathy...	OMIM:613243
Myotubular Myopathy With Abnormal Genital Development	Centrally nucleated skeletal muscle fibers, Myopathy	OMIM:300219
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Abnormal cardiac septum morphology, Bundle branch block, Arrhythmia	ORPHA:1479
Rett Syndrome	Truncal ataxia, Scoliosis, Cachexia, Gait apraxia, Kyphosis, Gait ataxia, Dystonia, Skeletal musc...	OMIM:312750
Autosomal Dominant Hypocalcemia	Hypocalcemia, Hyperphosphatemia, Hypomagnesemia	ORPHA:428
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Increased muscle glycogen content, Difficulty walking, Progressive cerebellar ataxia, Depression,...	ORPHA:502423
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Small for gestational age, Abnormal pinna morphology, Decreased activity of mitochondrial complex...	OMIM:615471
Thrombotic Thrombocytopenic Purpura, Hereditary	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:274150
Postsynaptic Congenital Myasthenic Syndromes	Hip flexor weakness, Abnormality of masticatory muscle, Triceps weakness, Upper limb muscle weakn...	ORPHA:98913
Muscular Dystrophy, Barnes Type	Muscular dystrophy, Myopathy	OMIM:158800
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Oculogastrointestinal Muscular Dystrophy	Abnormal mitral valve morphology, Cachexia, Skeletal muscle atrophy, Myopathy	ORPHA:1876
Cdkl5-Deficiency Disorder	Difficulty walking, Impaired pain sensation, Scoliosis, Kyphosis, Gait disturbance	ORPHA:505652
Lethal Congenital Contracture Syndrome 9	Abnormality of the diaphragm, Thoracic kyphoscoliosis, Low-set ears, Wrist flexion contracture, C...	OMIM:616503
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Exercise intolerance, Depression, Sensorineural hearing impairment, Resting tremor, Ragged-red mu...	OMIM:157640
Wilson Disease	Difficulty walking, Depression, Bone pain, Acute hepatitis, Arthritis, Increased body weight, Bac...	ORPHA:905
Acromesomelic Dysplasia, Maroteaux Type	Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,...	ORPHA:40
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis, Frontotemporal dementia, Limb muscle weakness	OMIM:619141
Christianson Syndrome	Truncal ataxia, Cachexia, Gait ataxia, Macrotia, Decreased muscle mass, Dystonia, Arthrogryposis ...	ORPHA:85278
46,Xy Sex Reversal 4	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:154230
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Camptodactyly, Kyphosis	OMIM:618453
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine	ORPHA:54057
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Muscular dystrophy, Kyphosis, Gait disturbance	ORPHA:1875
Pseudoachondroplasia	Wind-swept deformity of the knees, Abnormal femoral epiphysis morphology, Genu valgum, Flared met...	ORPHA:750
Atypical Rett Syndrome	Pill-rolling tremor, Inability to walk, Impaired pain sensation, Scoliosis, Tremor, Abnormal auto...	ORPHA:3095
Ullrich Congenital Muscular Dystrophy 2	Muscular dystrophy, Increased variability in muscle fiber diameter, Facial palsy, Flexion contrac...	OMIM:616470
Acromesomelic Dysplasia 4	Short finger, Broad finger, Genu valgum, Rhizomelia, Short metatarsal, Sandal gap, Ulnar bowing, ...	OMIM:619636
Dent Disease 2	Hypophosphatemia, Elevated circulating creatine kinase concentration	OMIM:300555
Mcdonough Syndrome	Low-set, posteriorly rotated ears, Cachexia, Scoliosis, Kyphosis, Macrotia, Aplasia/Hypoplasia of...	ORPHA:2471
Gerstmann-Straussler Disease	Limb ataxia, Memory impairment, Depression, Emotional lability, Truncal ataxia, Tremor, Gait atax...	OMIM:137440
Autosomal Recessive Ataxia, Beauce Type	Urinary incontinence, Scoliosis, Short attention span, Gait disturbance, Kyphosis, Ataxia, Skelet...	ORPHA:88644
Idiopathic/Heritable Pulmonary Arterial Hypertension	Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Pulmonary arterial h...	ORPHA:422
X-Linked Intellectual Disability, Stocco Dos Santos Type	Small for gestational age, Kyphosis	ORPHA:85288
Atrial Septal Defect 1	Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with pulmonary atresia, Secu...	OMIM:108800
Leigh Syndrome	Congestive heart failure, Decreased activity of mitochondrial respiratory chain, Chorea, Decrease...	ORPHA:506
Liddle Syndrome 2	Decreased circulating renin level, Hypokalemia	OMIM:618114
Liddle Syndrome 3	Decreased circulating renin level, Hypokalemia	OMIM:618126
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ...	OMIM:612240
Takayasu Arteritis	Abnormal endocardium morphology, Abnormal aortic valve morphology, Inflammatory abnormality of th...	ORPHA:3287
Generalized Pseudohypoaldosteronism Type 1	Increased circulating renin level, Hyponatremia, Hyperkalemia	ORPHA:171876
Paternal Uniparental Disomy Of Chromosome 1	Increased blood urea nitrogen, Hypercalcemia	ORPHA:251004
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Congenital Gerbode Defect	Congestive heart failure, Perimembranous ventricular septal defect, Abnormal tricuspid valve leaf...	ORPHA:99095
Carnitine Palmitoyltransferase Ii Deficiency	Exercise intolerance, Exercise-induced myalgia, Cardiomyopathy, Episodic abdominal pain, Rhabdomy...	ORPHA:157
Mccune-Albright Syndrome	Decreased fertility, Increased serum testosterone level, Irregular menstruation, Abnormal testis ...	ORPHA:562
Galactose Epimerase Deficiency	Weight loss	ORPHA:79238
Friedreich Ataxia	Limb ataxia, Congestive heart failure, Impaired proprioception, Decreased pyruvate carboxylase ac...	OMIM:229300
Pleural Mesothelioma	Constitutional symptom, Chest pain, Weight loss	ORPHA:50251
Mucopolysaccharidosis Type 3	Genu valgum, Hip pain, Cardiomegaly, Reduced left ventricular ejection fraction, Abnormal aortic ...	ORPHA:581
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Distal amyotrophy, Rimmed vacuoles, Facial palsy, Autophagic vacu...	OMIM:164310
Brachyolmia Type 1, Hobaek Type	Squared-off platyspondyly, Lumbar hypolordosis, Intervertebral space narrowing, Scoliosis, Kyphos...	OMIM:271530
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyperkalemia, Premature pubarche, Penoscrotal hypospadias, Hypospadias, Impaired cortisol respons...	OMIM:201810
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Huntington Disease-Like 1	Memory impairment, Depression, Chorea, Gait disturbance, Gait ataxia, Cognitive impairment, Weigh...	ORPHA:157941
Holt-Oram Syndrome	Aplasia of the pectoralis major muscle, Proximal placement of thumb, Small thenar eminence, Pulmo...	OMIM:142900
Classic Hodgkin Lymphoma	Bone pain, Chest pain, Weight loss, Fatigue	ORPHA:391
Primary Triglyceride Deposit Cardiomyovasculopathy	Precordial pain, Angina pectoris, Low-output congestive heart failure, Rimmed vacuoles, Cardiomyo...	ORPHA:565612
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Emotional lability, Abnormal pinna morphology, Tremor, Kyphosis, Gait ataxia, Abdominal obesity, ...	OMIM:300354
Pulmonary Hypertension, Primary, 4	Elevated pulmonary artery pressure, Atrial flutter, Pulmonary arterial hypertension with lack of ...	OMIM:615344
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia	OMIM:618913
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Congestive heart failure, Atrial fibrillation, Right bundle bran...	ORPHA:1880
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Depression, Scoliosis, Obesity, Kyphosis	ORPHA:276630
Cystinosis	Portal hypertension, Failure to thrive, Myopathy, Fatigue	ORPHA:213
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Chills, Weight loss, Fatigue	ORPHA:86884
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Scoliosis, Kyphosis, Truncal obesity, Gait disturbance	ORPHA:2429
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myalgia, Rhabdomyolysis, Ataxia, Myopathy	ORPHA:713
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating osteocalcin level, Hypophosphatemic rickets, Increased circulating beta-C-t...	ORPHA:157215
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Inability to walk, Limb hypertonia, Impaired pain sensation, Chorea, Kyphosis, Gait ataxia, Dystonia	ORPHA:500180
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Abnormal muscle fiber protein expression, Progressive sensorineural hearing impairment	ORPHA:330054
Sialidosis Type 1	Decreased nerve conduction velocity, Abnormal form of the vertebral bodies, Sensorineural hearing...	ORPHA:812
Hypouricemia, Renal, 2	Hypouricemia	OMIM:612076
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Increased variability in muscle fiber diameter, Failure to thrive in infancy, Flexion contracture	OMIM:619026
Optic Atrophy 11	Optic atrophy, Decreased sensory nerve conduction velocity, Optic nerve hypoplasia, Facial dipleg...	OMIM:617302
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Amyotrophic lateral sclerosis, Skeletal muscle atrophy	OMIM:205250
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic atrophy, Abnormal mitochondrial shape, Decreased nerve conduction velocity, Optic disc pallor	ORPHA:485421
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:223900
Klatskin Tumor	Abdominal pain, Weight loss, Fatigue	ORPHA:99978
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula...	OMIM:618920
Fibrosis Of Extraocular Muscles, Congenital, 3C	Congenital fibrosis of extraocular muscles, Kyphosis	OMIM:609384
Amyotrophic Lateral Sclerosis 9	Distal amyotrophy, Amyotrophic lateral sclerosis	OMIM:611895
Neutral Lipid Storage Myopathy	Congestive heart failure, Generalized limb muscle atrophy, Rimmed vacuoles, Cardiomyopathy, Hand ...	ORPHA:98908
Chylomicron Retention Disease	Failure to thrive, Impaired proprioception, EMG: myopathic abnormalities, Myopathy	ORPHA:71
Hemochromatosis, Type 1	Azoospermia, Impotence, Diabetes mellitus, Increased circulating iron concentration, Hypogonadotr...	OMIM:235200
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Amyotrophic lateral sclerosis, Frontotemporal dementia, Dystonia	OMIM:300857
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr...	ORPHA:542306
Laryngotracheoesophageal Cleft Type 4	Abnormal cardiac septum morphology, Cachexia, Abnormal lower motor neuron morphology, Abnormal fo...	ORPHA:93941
Liddle Syndrome	Hypokalemia	ORPHA:526
Familial Isolated Hypoparathyroidism	Myopathy, Arrhythmia	ORPHA:2238
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Masa Syndrome	Hyperlordosis, Shuffling gait, Kyphosis	OMIM:303350
Melas	Exercise intolerance, Wolff-Parkinson-White syndrome, Concentric hypertrophic cardiomyopathy, Rag...	ORPHA:550
Chronic Beryllium Disease	Weight loss, Fatigue	ORPHA:133
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Abnormality of skeletal muscle fiber size, Nemaline bodies, Joint contracture, Skeletal muscle at...	OMIM:620278
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia	OMIM:242050
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Inability to walk, Facial hypotonia, Cachexia, Scoliosis, Low-set ears, Failure to thrive in infa...	OMIM:616801
Baralle-Macken Syndrome	Urinary incontinence, Inability to walk, Kyphosis, Obesity, Dystonia	OMIM:619255
Caribbean Parkinsonism	Orthostatic hypotension, EMG: myopathic abnormalities, Progressive gait ataxia	ORPHA:97355
Benign Recurrent Intrahepatic Cholestasis	Abdominal pain, Weight loss, Fatigue	ORPHA:65682
Naxos Disease	Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ...	OMIM:601214
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Muscular dystrophy, Central core regions in muscle fibers	OMIM:159050
Dopamine Beta-Hydroxylase Deficiency	Increased blood urea nitrogen, Elevated circulating creatinine concentration	ORPHA:230
Atrophoderma Vermiculata	Heart block, Pain	ORPHA:79100
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Sensorineural hearing impairment, Cachexia, Ataxia, Skeletal...	ORPHA:1933
Combined Oxidative Phosphorylation Deficiency 58	Optic atrophy, Difficulty walking, Ragged-red muscle fibers, Decreased activity of mitochondrial ...	OMIM:620451
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Amyotrophic lateral sclerosis, Skeletal muscle atrophy	OMIM:617892
Hemifacial Atrophy, Progressive	Trigeminal neuralgia, Microtia, Kyphosis, Ataxia, Horner syndrome	OMIM:141300
Amyotrophic Lateral Sclerosis 1	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Skeletal muscle atrophy	OMIM:105400
Oromandibular Dystonia	Torticollis, Depression, Blepharospasm, Lingual dystonia, Pain, Limb dystonia, Weight loss, Gener...	ORPHA:93958
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Elevated circulating creatinine concentration	OMIM:608104
Liddle Syndrome 1	Decreased circulating renin level, Hypokalemia	OMIM:177200
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Congestive heart failure, Osteolytic defects of the phalang...	ORPHA:280365
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Pulmonary Hypertension, Primary, 5	Angina pectoris, Pulmonary arterial hypertension, Fatigue, Right ventricular failure, Right ventr...	OMIM:265400
Borjeson-Forssman-Lehmann Syndrome	Cervical spinal canal stenosis, Scoliosis, Kyphosis, Macrotia, Obesity, Scheuermann-like vertebra...	OMIM:301900
Synaptic Congenital Myasthenic Syndromes	Talipes equinovarus, Scapular winging, Facial palsy, Pulmonary arterial hypertension, Hand muscle...	ORPHA:98915
Inflammatory Pseudotumor Of The Liver	Asthenia, Weight loss, Abdominal pain	ORPHA:90003
Ck Syndrome	Irritability, Scoliosis, Hyperlordosis, Kyphosis, Slender build, Posteriorly rotated ears	OMIM:300831
Heart Defects-Limb Shortening Syndrome	Abnormal tricuspid valve morphology, Abnormal form of the vertebral bodies, Kyphosis, Abnormal mi...	ORPHA:1354
Meier-Gorlin Syndrome 7	Heart block, Dislocated radial head, Aplasia/Hypoplasia of the patella, 2-3 toe syndactyly, Clubb...	OMIM:617063
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Short metacarpal, Rhizomelic arm shortening, Short palm, Metaphyseal chondrodysplasi...	ORPHA:93317
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Eosinophilic Granulomatosis With Polyangiitis	Myocarditis, Myositis, Abdominal pain, Skin rash, Arthritis, Fatigue, Gait disturbance, Sinusitis...	ORPHA:183
Amyotrophic Lateral Sclerosis 18	Amyotrophic lateral sclerosis, Skeletal muscle atrophy	OMIM:614808
Cryptogenic Organizing Pneumonia	Fatigue, Arthralgia, Weight loss, Night sweats, Chest pain	ORPHA:1302
Hypomagnesemia 3, Renal	Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Increased circulating beta...	OMIM:248250
Moynahan Syndrome	Cachexia	ORPHA:2574
Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Spastic gait, Atrophy of the spinal cord, Cervical spinal...	ORPHA:35689
Chanarin-Dorfman Syndrome	Ataxia, Myopathy	OMIM:275630
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal vertebral morphology, Bone pain, Arthritis, Skin rash, Abnormal sacroiliac joint morphol...	ORPHA:324964
Relapsing Fever	Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-...	ORPHA:91547
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:89937
Inflammatory Bowel Disease (Crohn Disease) 1	Abdominal pain, Weight loss	OMIM:266600
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s...	ORPHA:325124
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Distal sensory impairment, Ragged-red muscle fibers, Abdominal pain, Sensorineural hearing impair...	OMIM:603041
Congenital Fiber-Type Disproportion Myopathy	Kyphoscoliosis, Hyperlordosis, Abnormal heart morphology, Flexion contracture of finger, Type 1 m...	ORPHA:2020
Presynaptic Congenital Myasthenic Syndromes	Tip-toe gait, Kyphoscoliosis, Spinal rigidity, Difficulty walking, Distal lower limb muscle weakn...	ORPHA:98914
Congenital Myasthenic Syndrome	Tip-toe gait, Kyphoscoliosis, Spinal rigidity, Difficulty walking, Distal lower limb muscle weakn...	ORPHA:590
Adrenomyodystrophy	Failure to thrive, Myopathy	ORPHA:977
Hirschsprung Disease	Abdominal pain, Failure to thrive in infancy, Weight loss	ORPHA:388
Neutral Lipid Storage Disease With Ichthyosis	Cardiomyopathy, EMG: myopathic abnormalities, Ataxia, Increased intramyocellular lipid droplets, ...	ORPHA:98907
Linear Verrucous Nevus Syndrome	Hypophosphatemia	ORPHA:2611
Abetalipoproteinemia	Congestive heart failure, Distal lower limb muscle weakness, Impaired proprioception, Cardiomegal...	ORPHA:14
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Myopathy, Fatigue	ORPHA:257
Refractory Celiac Disease	Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia	ORPHA:398063
Preeclampsia	Elevated circulating creatinine concentration	ORPHA:275555
Arthrogryposis Multiplex Congenita 6	Increased variability in muscle fiber diameter, Adducted thumb, Arthrogryposis multiplex congenit...	OMIM:619334
Bartter Syndrome, Type 5, Antenatal, Transient	Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia	OMIM:300971
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Brugada Syndrome 1	Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria...	OMIM:601144
Familial Hypoaldosteronism	Hyperkalemia, Hyponatremia, Increased circulating renin level	ORPHA:427
Osteomesopyknosis	Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:2777
Pseudomyxoma Peritonei	Abdominal pain, Weight loss	ORPHA:26790
Hereditary Late-Onset Parkinson Disease	Hypomimic face, Akinesia, Depression, Low frustration tolerance, Resting tremor, Shuffling gait, ...	ORPHA:411602
Intellectual Disability-Developmental Delay-Contractures Syndrome	Scoliosis, Distal amyotrophy, Kyphosis, Congenital foot contractures	ORPHA:3454
Carey-Fineman-Ziter Syndrome 1	Pectoralis hypoplasia, Hypoplasia of the musculature, Facial palsy, Tapered finger, Pulmonary art...	OMIM:254940
Rat-Bite Fever	Skin rash, Pericarditis, Pustule, Chills, Erythema nodosum, Morbilliform rash, Myocarditis, Tendo...	ORPHA:31205
Coenzyme Q10 Deficiency, Primary, 1	Decreased level of coenzyme Q10 in skeletal muscle, Ragged-red muscle fibers, Sensorineural heari...	OMIM:607426
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Hypocalcemia, Hypophosphat...	OMIM:264700
Familial Colorectal Cancer Type X	Irritability, Memory impairment, Depression, Abdominal pain, Gait disturbance, Fatigue, Flexion c...	ORPHA:440437
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Scoliosis, Kyphosis, Unsteady gait, Ataxia, Protruding ear	OMIM:300861
Non-Functioning Paraganglioma	Tremor, Episodic abdominal pain, Fatigue, Cranial nerve compression, Conductive hearing impairmen...	ORPHA:94080
Brown-Vialetto-Van Laere Syndrome 1	Gait imbalance, Truncal ataxia, Sensorineural hearing impairment, Scoliosis, Facial palsy, Kyphos...	OMIM:211530
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration	OMIM:614376
Jaberi-Elahi Syndrome	Optic atrophy, Inability to walk, Broad-based gait, Scoliosis, Tremor, Low-set ears, Kyphosis, Ga...	OMIM:617988
Majeed Syndrome	Bone pain, Cachexia, Synovitis, Failure to thrive, Pustule, Arthralgia, Osteomyelitis, Inflammato...	ORPHA:77297
Behçet Disease	Optic neuritis, Pericarditis, Ataxia, Gangrene, Irritability, Recurrent aphthous stomatitis, Memo...	ORPHA:117
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Scleromyxedema	Abnormal skeletal muscle morphology, Transient ischemic attack, Arthralgia, Raynaud phenomenon, M...	ORPHA:167635
Frontotemporal Dementia	Irritability, Frontotemporal dementia, Frontal lobe dementia, Dementia, Amyotrophic lateral scler...	OMIM:600274
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Scoliosis, Kyphosis	OMIM:300434
Rheumatoid Arthritis	Arthralgia, Weight loss, Fatigue	OMIM:180300
Intellectual Developmental Disorder, Autosomal Dominant 26	Scoliosis, Low-set ears, Kyphosis, Arthrogryposis multiplex congenita, Small for gestational age	OMIM:615834
Hypomagnesemia 2, Renal	Hypomagnesemia, Hypokalemia	OMIM:154020
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hyperamylasemia, Hypokalemia	OMIM:604278
Spondylometaphyseal Dysplasia, X-Linked	Kyphosis, Thoracolumbar scoliosis, Hip contracture, Knee flexion contracture, Platyspondyly	OMIM:313420
Lopes-Maciel-Rodan Syndrome	Scoliosis, Tremor, Kyphosis, Dystonia, Unsteady gait	OMIM:617435
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia, Primary hyperparathyroidism	OMIM:600740
Schaaf-Yang Syndrome	Inability to walk, Scoliosis, Low-set ears, Camptodactyly, Kyphosis, Obesity, Flexion contracture...	OMIM:615547
Cap Polyposis	Abdominal pain, Weight loss	ORPHA:160148
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Frontotemporal dementia, Sensorineural hearing impairment, Frontal lobe dementia, Cognitive impai...	OMIM:615911
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Diaphyseal cortical sclerosis, Metaphyseal striations, Limb muscle weakness, Limb-girdle muscle w...	OMIM:112250
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Decreased circulating parathyroid hormone level, Hypophosphatemic rickets, Abnormal circulating c...	OMIM:241530
Alexander Disease Type I	Cachexia, Scoliosis, Failure to thrive, Ataxia	ORPHA:363717
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Abnormal pinna morphology, Hyperlordosis, Facial palsy, Skeletal muscle atrophy, Protruding ear, ...	ORPHA:3068
Scimitar Syndrome	Abnormal hemidiaphragm morphology, Congestive heart failure, Heart block, Tricuspid atresia, Dext...	ORPHA:185
Atrial Septal Defect, Coronary Sinus Type	Presyncope, Exercise intolerance, Increased pulmonary vascular resistance, Supraventricular arrhy...	ORPHA:99104
Zimmermann-Laband Syndrome 3	Flexion contracture, Kyphosis	OMIM:618658
Alveolar Echinococcosis	Asthenia, Abnormal vertebral morphology, Abnormality of the diaphragm, Cholangitis, Abdominal pai...	ORPHA:284
Juvenile Nephropathic Cystinosis	Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic tetany, Ele...	ORPHA:411634
Wieacker-Wolff Syndrome, Female-Restricted	Urinary incontinence, Inability to walk, Scoliosis, Low-set ears, Facial palsy, Kyphosis, Hip con...	OMIM:301041
Perry Syndrome	Akinesia, Frontotemporal dementia, Depression, Tremor, Dystonia, Weight loss, Short stepped shuff...	OMIM:168605
Whipple Disease	Myocarditis, Depression, Abdominal pain, Arthritis, Myositis, Cachexia, Fatigue, Pericarditis, Ar...	ORPHA:3452
Hereditary Amyloidosis With Primary Renal Involvement	Congestive heart failure, Dyspepsia, Gastrointestinal hemorrhage, Abdominal pain, Hypertension, O...	ORPHA:85450
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia	ORPHA:340
Leishmaniasis	Night sweats, Arthralgia, Weight loss, Fatigue	ORPHA:507
X-Linked Agammaglobulinemia	Chronic otitis media, Sensorineural hearing impairment, Skin rash, Arthritis, Fatigue, Sinusitis,...	ORPHA:47
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration	ORPHA:90060
Usher Syndrome	Ataxia, Abnormal cardiovascular system physiology, Myopathy, Hypertrophic cardiomyopathy	ORPHA:886
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval	OMIM:615378
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:85329
Refsum Disease	Heart block, Hammertoe, Cardiomyopathy, Short metacarpal, Ataxia, Skeletal muscle atrophy	ORPHA:773
Yao Syndrome	Abdominal pain, Skin rash, Arthritis, Ventricular hypertrophy, Pericarditis, Arthralgia, Inflamma...	OMIM:617321
Peritoneal Cystic Mesothelioma	Abdominal pain, Weight loss	ORPHA:168816
Spondylometaphyseal Dysplasia, Kozlowski Type	Difficulty walking, Abnormality of the vertebral column, Vertebral wedging, Increased interverteb...	ORPHA:93314
Birk-Landau-Perez Syndrome	Hyperkalemia, Increased circulating creatine kinase MB isoform	OMIM:617595
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia, Hyperparathyroidism	ORPHA:93160
Arthrogryposis, Distal, Type 5	Exercise intolerance, Firm muscles, Scoliosis, Congenital finger flexion contractures, Kyphosis, ...	OMIM:108145
Giant Cell Arteritis	Optic atrophy, Depression, Abdominal pain, Arthritis, Fatigue, Hearing impairment, Pericarditis, ...	ORPHA:397
Greig Cephalopolysyndactyly Syndrome	Abnormal muscle fiber morphology, Camptodactyly of toe, Abnormal heart morphology, Atrial septal ...	OMIM:175700
Hyperparathyroidism, Neonatal Severe	Elevated circulating parathyroid hormone level, Calcinosis, Primary hyperparathyroidism, Hypercal...	OMIM:239200
Spondylocostal Dysostosis 3, Autosomal Recessive	Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,...	OMIM:609813
Wieacker-Wolff Syndrome	Congenital foot contractures, Scoliosis, Hyperlordosis, Low-set ears, Facial palsy, Kyphosis, Cam...	OMIM:314580
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia	ORPHA:466650
Mucopolysaccharidosis Type 6	Chronic otitis media, Abnormal heart valve morphology, Kyphosis, Cognitive impairment, Sinusitis,...	ORPHA:583
Carey-Fineman-Ziter Syndrome	Aplasia of the pectoralis major muscle, Facial palsy, Hypertensive crisis, Skeletal muscle atroph...	ORPHA:1358
Mucopolysaccharidosis, Type Iva	Anterior beaking of lumbar vertebrae, Lumbar kyphosis, Cervical myelopathy, Abnormal heart valve ...	OMIM:253000
Localized Scleroderma	Sclerosis of finger phalanx, Vasculitis, Arrhythmia, Arthralgia, Flexion contracture, Skeletal mu...	ORPHA:90289
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Dementia	OMIM:617839
Systemic Capillary Leak Syndrome	Abdominal pain, Fatigue, Constitutional symptom, Weight loss, Myalgia	ORPHA:188
Congenital Myopathy 21 With Early Respiratory Failure	EMG: myopathic abnormalities, Hypertrophic cardiomyopathy	OMIM:620326
Corticosteroid-Binding Globulin Deficiency	Reduced circulating cortisol-binding globulin concentration, Hypokalemia	OMIM:611489
Emanuel Syndrome	Congenital diaphragmatic hernia, Chronic oral candidiasis, Recurrent otitis media, Sacral dimple,...	OMIM:609029
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Transposition of the great arteries, Atrioventricular canal defe...	ORPHA:251071
Colchicine Poisoning	Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con...	ORPHA:31824
Central Diabetes Insipidus	Failure to thrive, Weight loss	ORPHA:178029
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Muscular dystrophy, Inability to walk, Myositis, Scoliosis, Hyperlordosis, Facial palsy, Cardiomy...	ORPHA:258
Winchester Syndrome	Kyphosis	OMIM:277950
Alpha-Mannosidosis	Chronic otitis media, Arthritis, Abnormal helix morphology, Scoliosis, Kyphosis, Hearing impairme...	ORPHA:61
Neuropathy, Congenital Hypomyelinating, 3	Hypomimic face, Cachexia, Facial diplegia, Low-set ears, Hearing impairment, Dystonia, Limb joint...	OMIM:618186
Leopard Syndrome 1	Scapular winging, Hypertrophic cardiomyopathy, Pulmonic stenosis, Bundle branch block, Mitral val...	OMIM:151100
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Tapered finger,...	OMIM:612949
Vitamin D-Dependent Rickets, Type 2A	Secondary hyperparathyroidism, Elevated circulating parathyroid hormone level, Hypocalcemic seizu...	OMIM:277440
Peripheral Primitive Neuroectodermal Tumor	Spinal cord tumor, Pancreatitis, Torticollis, Episodic abdominal pain, Abnormal thoracic spine mo...	ORPHA:370348
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating long chain fatty acid concentration, Elevated circulating creatine kinase co...	OMIM:608836
Osteosarcoma	Pain, Weight loss	ORPHA:668
Hypokalemic Periodic Paralysis	Mildly elevated creatine kinase, Episodic hypokalemia	ORPHA:681
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Tapered distal phalanges of finger, Cachexia, Elbow flexion contracture...	ORPHA:371364
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hyperbilirubinemia, Elevated circulating creatinine concentration	ORPHA:542323
Fanconi Renotubular Syndrome 1	Hypophosphatemia, Hypokalemia	OMIM:134600
Perry Syndrome	Depression, Tremor, Weight loss, Dementia	ORPHA:178509
Alexander Disease	Depression, Emotional lability, Scoliosis, Hyperlordosis, Facial palsy, Abnormal autonomic nervou...	ORPHA:58
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scoliosis, Tremor, Scapular winging, Kyphosis, Fatigue, Macrotia, Pain insensitivity, Attention d...	OMIM:617061
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Diabetes mellitus, Hypophosphatemia	OMIM:616026
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Idiopathic Bronchiectasis	Halitosis, Cachexia, Chest pain	ORPHA:60033
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Bacterial endocarditis, Heart block, Premature ventricular contraction	ORPHA:1964
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypomagnesemia, Hypokalemia	OMIM:618314
Hyperoxaluria, Primary, Type I	Bone pain, Intermittent claudication, Raynaud phenomenon, Atrioventricular block, Gangrene, Arter...	OMIM:259900
Malignant Peritoneal Mesothelioma	Abdominal pain, Weight loss	ORPHA:168811
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Combined Oxidative Phosphorylation Deficiency 12	Ragged-red muscle fibers, Decreased activity of mitochondrial complex I, Failure to thrive, Dysto...	OMIM:614924
Apparent Mineralocorticoid Excess	Decreased circulating renin level, Hypokalemia	OMIM:218030
Crisponi Syndrome	Scoliosis, Kyphosis, Cognitive impairment, Camptodactyly of finger, Flexion contracture, Sudden c...	ORPHA:1545
Glycogen Storage Disease Vii	Exercise intolerance, Increased muscle glycogen content, Exercise-induced myalgia, Increased vari...	OMIM:232800
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration	ORPHA:79126
Hypophosphatemic Rickets, X-Linked Dominant	Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Abnormal circulating ca...	OMIM:307800
Erythrokeratodermia Variabilis	Hearing impairment, Skin rash, Protruding ear, Weight loss	ORPHA:317
Choreoacanthocytosis	Chorea, Lingual dystonia, Abnormal autonomic nervous system physiology, Limb dystonia, Head titub...	ORPHA:2388
Combined Oxidative Phosphorylation Deficiency 11	Cardiomyopathy, Myopathy	OMIM:614922
Igg4-Related Retroperitoneal Fibrosis	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Elevated circulatin...	ORPHA:49041
Cockayne Syndrome Type 1	Increased blood urea nitrogen	ORPHA:90321
Axial Osteomalacia	Myopathy	OMIM:109130
Renal Hypoplasia, Bilateral	Hyperkalemia, Hyponatremia	ORPHA:97362
Leptospirosis	Abdominal pain, Hypotension, Retinal hemorrhage, Pericarditis, Rhabdomyolysis, Chills, Arthralgia...	ORPHA:509
Stormorken Syndrome	Subarachnoid hemorrhage, Myalgia, Epistaxis, Myopathy	OMIM:185070
Fibrous Dysplasia Of Bone	Thyroid carcinoma, Precocious puberty in females, Abnormality of the endocrine system, Testicular...	ORPHA:249
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia	OMIM:618885
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Failure to thrive, Muscle fiber atrophy, Flexion contracture	OMIM:620240
15Q24 Microdeletion Syndrome	Congenital diaphragmatic hernia, Scoliosis, Kyphosis, Hearing impairment, Failure to thrive, Obes...	ORPHA:94065
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormality of iron homeostasis, Erectile dysfunction, Decreased libido, Infertility, Hypothyroid...	ORPHA:465508
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Spina bifida occulta, Scoliosis, Abnormal pinna morphology, Kyphosis, Arthrogrypos...	OMIM:618291
Glossopharyngeal Neuralgia	Mandibular pain, Abnormal glossopharyngeal nerve morphology, Ear pain, Depression, Dysesthesia, C...	ORPHA:221098
Holocarboxylase Synthetase Deficiency	Irritability, Perioral eczema, Keratoconjunctivitis, Eczematoid dermatitis, Ataxia, Weight loss	ORPHA:79242
Cockayne Syndrome Type 2	Difficulty walking, Limb hypertonia, Scoliosis, Gait disturbance, Kyphosis, Hearing impairment, M...	ORPHA:90322
Fanconi Renotubular Syndrome 2	Elevated circulating parathyroid hormone level, Hypophosphatemia	OMIM:613388
African Trypanosomiasis	Myocarditis, Congestive heart failure, Impaired proprioception, Urinary incontinence, Somatic sen...	ORPHA:3385
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Depression, Positive Romberg sign, Dysdiadochokinesis, Gait disturbance, Cognitive impairment, In...	OMIM:301310
Early-Onset Autosomal Dominant Alzheimer Disease	Deposits immunoreactive to beta-amyloid protein, Memory impairment, Confusion, Semantic dementia,...	ORPHA:1020
Developmental Malformations-Deafness-Dystonia Syndrome	Sensorineural hearing impairment, Scoliosis, Kyphosis, Generalized dystonia, Macroglossia, Mental...	ORPHA:79107
Infantile Krabbe Disease	Optic atrophy, Irritability, Delayed brainstem auditory evoked response conduction time, Decrease...	ORPHA:206436
Fumarase Deficiency	Optic atrophy, Perimembranous ventricular septal defect, Necrotizing enterocolitis, Failure to th...	OMIM:606812
Zimmermann-Laband Syndrome 2	Sensorineural hearing impairment, Macroglossia, Short neck, Kyphosis	OMIM:616455
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Frontotemporal dementia	OMIM:616208
Muscle-Eye-Brain Disease	Myopathy	ORPHA:588
Ane Syndrome	Kyphoscoliosis, Motor neuron atrophy, Generalized amyotrophy, Multiple joint contractures, Motor ...	ORPHA:157954
Acquired Generalized Lipodystrophy	Abnormal cardiovascular system physiology, Calf muscle pseudohypertrophy, Hypertension, Cardiomyo...	ORPHA:79086
Metatropic Dysplasia	Kyphoscoliosis, Caudal appendage, Relatively short spine, Scoliosis, Long coccyx, Kyphosis, Aniso...	OMIM:156530
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Kaposi Sarcoma	Weight loss, Fatigue	ORPHA:33276
Renal Tubular Acidosis Iii	Hypokalemia	OMIM:267200
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia	OMIM:602722
Mitochondrial Complex I Deficiency, Nuclear Type 1	Exercise intolerance, Concentric hypertrophic cardiomyopathy, Ragged-red muscle fibers, Sensorine...	OMIM:252010
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypoparathyroidism, Hypophosphatemia	OMIM:156400
Allergic Bronchopulmonary Aspergillosis	Weight loss	ORPHA:1164
Wild Type Attr Amyloidosis	Abnormal autonomic nervous system physiology, Bowel incontinence, Hypertrophic cardiomyopathy, Ao...	ORPHA:330001
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Loss of ambulation, Amyotrophic lateral sclerosis	OMIM:613435
Polyarteritis Nodosa	Abdominal pain, Myalgia, Arthralgia, Weight loss	ORPHA:767
Hypercalcemia, Infantile, 1	Failure to thrive, Weight loss	OMIM:143880
Acute Adrenal Insufficiency	Hyperkalemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Hypercalcemia	ORPHA:95409
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia	OMIM:188580
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Aicardi-Goutieres Syndrome 9	Optic atrophy, Irritability, Scoliosis, Acute pancreatitis, Chilblains, Pericarditis, Lower limb ...	OMIM:619487
Pelger-Huet Anomaly	Recurrent otitis media, Kyphosis, Eczematoid dermatitis, Lower limb hypertonia, Failure to thrive...	OMIM:169400
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Low-set, posteriorly rotated ears, Abnormal form of the ...	ORPHA:2635
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Scoliosis, Premature osteoarthritis, Kyphosis, Contracture of the proximal interphalangeal joint ...	OMIM:130060
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Encopresis, Inability to walk, Emotional lability, Scoliosis, Hyperlordosis, Low-set ears, Kyphos...	OMIM:618443
Hypotonia-Cystinuria Syndrome	Ragged-red muscle fibers, Facial palsy, Macrotia, Failure to thrive, Posteriorly rotated ears	OMIM:606407
Gitelman Syndrome	Urinary incontinence, Prolonged QT interval, Paresthesia, Prominent U wave, Abdominal pain, Low-t...	ORPHA:358
Renpenning Syndrome	Sensorineural hearing impairment, Cachexia, Round ear, Macrotia, Skeletal muscle atrophy	ORPHA:3242
Pulmonary Non-Tuberculous Mycobacterial Infection	Asthenia, Chest pain, Weight loss	ORPHA:411703
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration	OMIM:266900
Immunodeficiency 9	Failure to thrive, Myopathy	OMIM:612782
Mirage Syndrome	Hyperkalemia, Hyponatremia	OMIM:617053
Overlap Myositis	Limb pain, Proximal muscle weakness in upper limbs, Difficulty walking, Distal lower limb muscle ...	ORPHA:206572
Combined Oxidative Phosphorylation Deficiency 55	Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyp...	OMIM:619743
Hyperparathyroidism-Jaw Tumor Syndrome	Thyroid carcinoma, Elevated circulating parathyroid hormone level, Testicular neoplasm, Primary h...	ORPHA:99880
Musculocontractural Ehlers-Danlos Syndrome	Abnormal heart valve morphology, Dysesthesia, Slender finger, Decreased muscle mass, Abnormal hea...	ORPHA:2953
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Hyperlipidemia	ORPHA:439232
Juvenile Dermatomyositis	Calcinosis, Gastrointestinal hemorrhage, Myositis, Abdominal pain, Vasculitis, Angina pectoris, C...	ORPHA:93672
Neuroblastoma	Irritability, Bone pain, Fatigue, Ataxia, Weight loss, Antalgic gait, Horner syndrome, Spinal cor...	ORPHA:635
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Conjugated hyperbilirubinemia	OMIM:608885
Hereditary Xanthinuria	Flank pain, Chronic fatigue, Myopathy	ORPHA:3467
Lethal Congenital Contracture Syndrome 10	Torticollis, Femoral bowing, Ventricular septal defect, Increased variability in muscle fiber dia...	OMIM:617022
Spondyloepiphyseal Dysplasia Congenita	Spinal rigidity, Hip pain, Cervical instability, Knee pain, Scoliosis, Waddling gait, Abnormally ...	ORPHA:94068
Immunodeficiency 87 And Autoimmunity	Atrial septal defect, Atrioventricular canal defect, Hypertension, Pulmonary arterial hypertensio...	OMIM:619573
Aortic Arch Interruption	Blood pressure substantially higher in arms than legs, Hypertension, Aortopulmonary window, Abnor...	ORPHA:2299
Congenital Myopathy 17	Overlapping fingers, Tapered finger, Failure to thrive in infancy, Hand clenching, Distal arthrog...	OMIM:618975
Triosephosphate Isomerase Deficiency	Myopathy, Tremor, Kyphosis, Failure to thrive, Dystonia, Unsteady gait, Skeletal muscle atrophy, ...	OMIM:615512
Frank-Ter Haar Syndrome	Beaking of vertebral bodies, Scoliosis, Kyphosis, Camptodactyly of finger, Mitral valve prolapse,...	ORPHA:137834
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Knee flexion contracture, Sensorineural hearing impairment, ...	OMIM:618733
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Increased circulating renin level, Hyponatremia, Hyperkalemia	ORPHA:90791
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Hypophosphatemia	OMIM:605911
Schwartz-Jampel Syndrome	Flexion contracture of toe, Cachexia, Wrist flexion contracture, Myopathy, Coxa valga, Pulmonary ...	ORPHA:800
Parathyroid Carcinoma	Parathyroid carcinoma, Thyroid carcinoma, Elevated circulating parathyroid hormone level, Testicu...	ORPHA:143
Congenital Myopathy 9A	Obesity, EMG: myopathic abnormalities	OMIM:618822
Aggressive Systemic Mastocytosis	Bone pain, Abdominal pain, Fatigue, Constitutional symptom, Abdominal cramps, Arthralgia, Weight ...	ORPHA:98850
Glycogen Storage Disease Due To Acid Maltase Deficiency	Chronic pain, Glycogen accumulation in muscle fiber lysosomes, Exercise intolerance, Facial hypot...	ORPHA:365
Familial Glucocorticoid Deficiency	Hyperkalemia, Hyponatremia	ORPHA:361
Histidinemia	Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia, Histidinuria	OMIM:235800
Xp21 Deletion Syndrome	Exercise-induced myalgia, Calf muscle hypertrophy, Decreased muscle mass, Finger clinodactyly, My...	ORPHA:261476
Hall-Riggs Syndrome	Scoliosis, Kyphosis, Failure to thrive, Irregular vertebral endplates, Platyspondyly	OMIM:234250
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Postencephalitic Parkinsonism	Akinesia, Oculogyric crisis, Depression, Resting tremor, Tremor by anatomical site, Kyphosis, Cam...	ORPHA:97349
Mucolipidosis Type Ii	Abnormal aortic valve morphology, Inability to walk, Knee flexion contracture, Sensorineural hear...	ORPHA:576
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Overlapping toe, EMG: myopathic abnormalities	ORPHA:457365
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Impaired tandem gait, Abnormal pinna morphology, Thoracic kyphoscoliosis, Elbow flexion contractu...	ORPHA:1900
Nephroblastoma	Abdominal pain, Weight loss	ORPHA:654
Hypocalcemic Vitamin D-Dependent Rickets	Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Hypocalcemia, Hypophosphat...	ORPHA:289157
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Joint contracture of the 5th finger, Sensorineural hearing impairment, Scoliosis, Kyphosis, Cogni...	ORPHA:1883
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia	OMIM:613239
O'Donnell-Luria-Rodan Syndrome	Kyphosis	OMIM:618512
Cystic Echinococcosis	Abnormality of the diaphragm, Abnormality of the vertebral column, Epigastric pain, Fatigue, Abno...	ORPHA:400
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir...	ORPHA:90038
Autosomal Recessive Spastic Paraplegia Type 35	Optic atrophy, Difficulty walking, Urinary incontinence, Mental deterioration, Dysdiadochokinesis...	ORPHA:171629
Desmoplastic Small Round Cell Tumor	Abdominal pain, Cachexia, Weight loss	ORPHA:83469
Lateral Meningocele Syndrome	Syringomyelia, Dural ectasia, Scoliosis, Low-set ears, Tethered cord, Kyphosis, Abnormality of th...	OMIM:130720
X-Linked Intellectual Disability, Cabezas Type	Abnormal earlobe morphology, Broad-based gait, Cachexia, Scoliosis, Tremor, Kyphosis, Camptodacty...	ORPHA:85293
Mucopolysaccharidosis Type 4	Abnormal heart valve morphology, Scoliosis, Hyperlordosis, Kyphosis, Gait disturbance, Hearing im...	ORPHA:582
Subaortic Stenosis-Short Stature Syndrome	Low-set, posteriorly rotated ears, Scoliosis, Membranous subvalvular aortic stenosis, Kyphosis, O...	ORPHA:3191
Immunodeficiency 27A	Salmonella osteomyelitis, Weight loss, Pneumonia, Night sweats, Increased inflammatory response	OMIM:209950
Neutral Lipid Storage Disease With Myopathy	Exercise intolerance, Cardiomyopathy, Myalgia, Increased muscle lipid content, Myopathy	OMIM:610717
Spondyloepiphyseal Dysplasia Congenita	Cervical myelopathy, Scoliosis, Waddling gait, Kyphosis, Hearing impairment, Atlantoaxial instabi...	OMIM:183900
Autosomal Recessive Spondylocostal Dysostosis	Congenital diaphragmatic hernia, Abnormal intervertebral disk morphology, Low-set, posteriorly ro...	ORPHA:2311
Rhabdoid Tumor	Abdominal pain, Weight loss	ORPHA:69077
Nodular Non-Suppurative Panniculitis	Abdominal pain, Myalgia, Arthralgia, Weight loss	ORPHA:33577
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Limb muscle weakness, Amyotrophic lateral sclerosis, Frontotemporal dementia, Memory impairment	OMIM:619133
Cartilage-Hair Hypoplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Heart block, Rhizomelia, Abnormal dia...	ORPHA:175
Rhizomelic Syndrome, Urbach Type	Abnormal form of the vertebral bodies, Kyphosis, Cognitive impairment, Pulmonic stenosis, Acne, S...	ORPHA:3098
Bannayan-Riley-Ruvalcaba Syndrome	Angina pectoris, Cachexia, Broad thumb, Skeletal muscle atrophy, Intracranial hemorrhage, Myopath...	ORPHA:109
Deafness-Lymphedema-Leukemia Syndrome	Weight loss, Fatigue	ORPHA:3226
Fanconi-Bickel Syndrome	Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubinemia, Hypergala...	OMIM:227810
Neuroblastoma, Susceptibility To, 1	Bone pain, Abdominal pain, Failure to thrive, Ataxia, Weight loss, Horner syndrome, Spinal cord c...	OMIM:256700
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance	OMIM:619173
Brucellosis	Asthenia, Chorea, Pericarditis, Chills, Anterior uveitis, Myocarditis, Abnormality of the periphe...	ORPHA:1304
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Bone Dysplasia, Lethal Holmgren Type	Hypertrophic cardiomyopathy, Failure to thrive, Weight loss, Short neck, Atrial septal defect	ORPHA:1842
Native American Myopathy	Inability to walk, Abnormality of skeletal muscle fiber size, Camptodactyly, Congenital contractu...	ORPHA:168572
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Exercise intolerance, Exercise-induced myalgia, Muscle fiber atrophy, Rhabdomyolysis, Myalgia, In...	ORPHA:228302
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Elevated circulating creatinine concentration, Reduced haptoglobin level	OMIM:301110
Acth-Independent Macronodular Adrenal Hyperplasia	Depression, Emotional lability, Kyphosis, Skeletal muscle atrophy, Truncal obesity, Mental deteri...	OMIM:219080
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Scoliosis, Hyperlordosis, Low-set ears, Kyphosis	OMIM:615761
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic rickets, Hypophosphatemia	OMIM:300554
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Optic atrophy, Inability to walk, Scoliosis, Elbow flexion contracture, Kyphosis, Hip contracture...	OMIM:618493
Autoimmune Pulmonary Alveolar Proteinosis	Chest pain, Weight loss, Fatigue	ORPHA:747
X-Linked Intellectual Disability Due To Gria3 Mutations	Facial hypotonia, Scoliosis, Kyphosis, Macrotia, Uplifted earlobe, Slender build, Pain insensitiv...	ORPHA:364028
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperkalemia, Hyponatremia	ORPHA:90790
Idiopathic Chronic Eosinophilic Pneumonia	Asthenia, Arthralgia, Weight loss, Night sweats	ORPHA:2902
Diastrophic Dysplasia	Low-set, posteriorly rotated ears, Abnormal form of the vertebral bodies, Hypoplastic cervical ve...	ORPHA:628
Camurati-Engelmann Disease	Optic atrophy, Optic nerve compression, Abnormality of the vertebral column, Bone pain, Cachexia,...	ORPHA:1328
Scleroderma, Familial Progressive	Chromosome breakage, Calcinosis, Abnormality of chromosome stability, Telangiectasia	OMIM:181750
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Pulmonary arterial hypertension, Pulmonic stenosis, Broad thumb, Clinodactyly, Secundum atrial se...	OMIM:612541
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Exercise intolerance, Cholangitis, Depression, Emotional lability, Ragged-red muscle fibers, Hype...	OMIM:124000
Al Amyloidosis	Abnormal cardiac ventricle morphology, Monoclonal light chain cardiac amyloidosis, Abnormal auton...	ORPHA:85443
Hyperaldosteronism, Familial, Type Iii	Decreased circulating renin level, Hypokalemia	OMIM:613677
Pseudoachondroplasia	Beaking of vertebral bodies, Scoliosis, Waddling gait, Kyphosis, Hypoplasia of the odontoid proce...	OMIM:177170
Adult-Onset Still Disease	Myocarditis, Asthenia, Abdominal pain, Skin rash, Arthritis, Fatigue, Pericarditis, Arthralgia/ar...	ORPHA:829
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Hypoalbuminemia, Elevated circulating creatinine concentration, Elevated circulatin...	ORPHA:36234
Trisomy 20P	Platyspondyly, Low-set, posteriorly rotated ears, Abnormal form of the vertebral bodies, Abnormal...	ORPHA:261318
Acute Monoblastic/Monocytic Leukemia	Weight loss, Fatigue	ORPHA:514
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Chest pain, Weight loss	ORPHA:79127
Sjögren-Larsson Syndrome	Scoliosis, Kyphosis, Inflammatory abnormality of the eye	ORPHA:816
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Diabetes mellitus, Hypophosphatemia	ORPHA:2088
Distal Triplication 15Q	Large for gestational age, Syringomyelia, Sensorineural hearing impairment, Abnormal helix morpho...	ORPHA:314588
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Kyphosis	ORPHA:2786
Oxoglutaric Aciduria	Ataxia, Skeletal muscle atrophy, Abnormality of Krebs cycle metabolism	ORPHA:31
Anaplastic Thyroid Carcinoma	Abnormal skeletal muscle morphology, Pain, Weight loss	ORPHA:142
Laubry-Pezzi Syndrome	Elevated pulmonary artery pressure, Congestive heart failure, Bicuspid aortic valve, Perimembrano...	ORPHA:99094
Coffin-Lowry Syndrome	Optic atrophy, Abnormal aortic valve morphology, Abnormal tricuspid valve morphology, Abnormal fo...	ORPHA:192
Arthrogryposis, Distal, Type 4	Hypoplastic helices, Torticollis, Camptodactyly of 2nd-5th fingers, Scoliosis, Kyphosis, Camptoda...	OMIM:609128
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Multiple Myeloma	Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia	ORPHA:29073
Vici Syndrome	Congestive heart failure, Atrial septal defect, Cardiomyopathy, Failure to thrive, Left ventricul...	OMIM:242840
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Becker Nevus Syndrome	Scoliosis, Kyphosis, Shoulder girdle muscle atrophy, Spina bifida occulta	ORPHA:64755
19P13.12 Microdeletion Syndrome	Sensorineural hearing impairment, Abnormal pinna morphology, Scoliosis, Low-set ears, Ventricular...	ORPHA:254346
Diarrhea 1, Secretory Chloride, Congenital	Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia	OMIM:214700
Interatrial Communication	Congestive heart failure, Atrial septal defect, Atrial flutter, Sinus venosus atrial septal defec...	ORPHA:1478
Hip Dysplasia, Beukes Type	Scoliosis, Osteoarthritis, Kyphosis	ORPHA:2114
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Scoliosis, Kyphosis, Gait disturbance	ORPHA:2181
Simple Cryoglobulinemia	Abdominal pain, Arthritis, Spontaneous pain sensation, Fatigue, Viral hepatitis, Pericarditis, Ne...	ORPHA:91139
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Sensorineural hearing impairment, Obesity, Hyperlordosis, Kyphosis	ORPHA:3085
Cronkhite-Canada Syndrome	Abdominal pain, Cachexia, Fatigue	ORPHA:2930
Mucopolysaccharidosis, Type Vii	Recurrent otitis media, Anterior beaking of lumbar vertebrae, Platyspondyly, Sensorineural hearin...	OMIM:253220
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Chronic otitis media, Protruding ear, Sacral dimple, Prominent protruding coccyx, Gait imbalance,...	OMIM:300966
Ebstein Anomaly	Atrial fibrillation, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Ventricul...	OMIM:224700
Addison Disease	Hyperkalemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Hypercalcemia	ORPHA:85138
Fucosidosis	Anterior beaking of lumbar vertebrae, Kyphosis, Hearing impairment, Failure to thrive, Decreased ...	ORPHA:349
Aarskog-Scott Syndrome	Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve...	OMIM:305400
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Skeletal muscle atrophy, Knee flexion contracture, Thoracic scoliosis, Atrial septal de...	OMIM:603387
Paramyotonia Congenita Of Von Eulenburg	Myalgia, EMG: myopathic abnormalities, Facial muscle hypertrophy	ORPHA:684
Fatal Familial Insomnia	Ataxia, Abnormal autonomic nervous system physiology, Weight loss, Dementia	OMIM:600072
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Mucopolysaccharidosis, Type Ii	Recurrent otitis media, Abnormal heart valve morphology, Kyphosis, Hearing impairment, Papilledem...	OMIM:309900
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Scoliosis, Kyphosis, Gait disturbance, Hearing impairment, Failure to thrive, Flexion contracture...	ORPHA:500055
Alpha-Mannosidosis, Infantile Form	Asthenia, Genu valgum, Aortic regurgitation, Facial hypotonia, Bilateral coxa valga, Bilateral ta...	ORPHA:309282
4Q21 Microdeletion Syndrome	Scoliosis, Tremor, Low-set ears, Kyphosis, Hearing impairment, Short neck	ORPHA:238750
Mitochondrial Dna-Associated Leigh Syndrome	Abnormality of Krebs cycle metabolism, Ragged-red muscle fibers, Chorea, Hypertrophic cardiomyopa...	ORPHA:255210
Urban-Rogers-Meyer Syndrome	Flexion contracture of toe, Aplasia/Hypoplasia of the earlobes, Kyphosis, Camptodactyly of finger...	ORPHA:3409
Felty Syndrome	Chronic otitis media, Arthritis, Synovitis, Sinusitis, Pericarditis, Episcleritis, Recurrent pneu...	ORPHA:47612
Myasthenic Syndrome, Congenital, 19	Exercise intolerance, Increased variability in muscle fiber diameter, Facial palsy	OMIM:616720
Mucolipidosis Iii Gamma	Claw hand deformity, Shoulder contracture, Scoliosis, Hyperlordosis, Kyphosis, Finger joint contr...	OMIM:252605
Celiac Disease, Susceptibility To, 1	Recurrent aphthous stomatitis, Depression, Abdominal pain, Thyroiditis, Stomatitis, Eczematoid de...	OMIM:212750
Myasthenic Syndrome, Congenital, 20, Presynaptic	Scoliosis, Facial palsy, Kyphosis, Skeletal muscle atrophy, Arthrogryposis multiplex congenita	OMIM:617143
Mucopolysaccharidosis, Type Ivb	Cervical myelopathy, Scoliosis, Hyperlordosis, Kyphosis, Hearing impairment, Aortic valve stenosi...	OMIM:253010
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated circulating creatinine concentration	ORPHA:247691
Bruck Syndrome 1	Ankle flexion contracture, Vertebral wedging, Scoliosis, Elbow flexion contracture, Kyphosis, Hip...	OMIM:259450
X-Linked Creatine Transporter Deficiency	Aganglionic megacolon, Chorea, Cachexia, Athetosis, Dystonia, Ataxia	ORPHA:52503
Immunodeficiency 10	Myopathy	OMIM:612783
Trisomy 13	Optic atrophy, Abnormal antihelix morphology, Sensorineural hearing impairment, Abnormal helix mo...	ORPHA:3378
Ehlers-Danlos Syndrome, Classic-Like, 1	Muscle fiber splitting, Quadricuspid aortic valve, Proximal amyotrophy, Arthralgia, Mitral valve ...	OMIM:606408
Solitary Fibrous Tumor	Low back pain, Night sweats, Weight loss, Fatigue	ORPHA:2126
Familial Hyperaldosteronism Type Ii	Hypokalemia	ORPHA:404
Acquired Hypertrichosis Lanuginosa	Macroglossia, Weight loss	ORPHA:2221
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Acute rhabdomyolysis, Prolonged QT interval, EMG: myopathic abnormalities, Ataxia, Arrhythmia, Ab...	ORPHA:480864
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia	OMIM:611590
Wolfram Syndrome	Ataxia, Gastrointestinal hemorrhage, Cardiomyopathy, Myopathy	ORPHA:3463
Lateral Meningocele Syndrome	Syringomyelia, Dural ectasia, Abnormal form of the vertebral bodies, Sensorineural hearing impair...	ORPHA:2789
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Cervical spinal canal stenosis, Distal lower limb muscle weakness, Sacral dimple, Inability to wa...	ORPHA:508533
Sporadic Pheochromocytoma/Secreting Paraganglioma	Tremor, Episodic abdominal pain, Fatigue, Cranial nerve compression, Conductive hearing impairmen...	ORPHA:276621
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Cachexia, Gait disturbance	ORPHA:2774
3C Syndrome	Optic atrophy, Atrioventricular canal defect, Abnormal tricuspid valve morphology, Scoliosis, Hem...	ORPHA:7
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Fused cervical vertebrae, Hyperlordosis, Low-set ears, Kyphosis, Short neck, Spinal cord compression	ORPHA:2522
Microcephalic Primordial Dwarfism, Montreal Type	Scoliosis, Vertebral segmentation defect, Low-set, posteriorly rotated ears, Kyphosis	ORPHA:2617
Stickler Syndrome, Type I	Beaking of vertebral bodies, Spondylolisthesis, Sensorineural hearing impairment, Arthritis, Scol...	OMIM:108300
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Vertebral compression fracture, Emotional lability, Kyphosis, Bic...	OMIM:219090
2P15P16.1 Microdeletion Syndrome	Optic atrophy, Protruding ear, Optic nerve hypoplasia, Scoliosis, Facial palsy, Low-set ears, Gai...	ORPHA:261349
Glycogen Storage Disease Xii	Muscle fiber splitting, Increased variability in muscle fiber diameter, Myopathy	OMIM:611881
Oculoauriculovertebral Spectrum With Radial Defects	Atrioventricular canal defect, Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, EMG: myopath...	ORPHA:2549
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Abnormal antihelix morphology, Cachexia, Low-set ears, Large earlobe, Shor...	ORPHA:1438
Familial Hyperaldosteronism Type I	Hypokalemia	ORPHA:403
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Ectopic Aldosterone-Producing Tumor	Decreased circulating renin level, Hypokalemia	ORPHA:231632
Desbuquois Dysplasia 1	Scoliosis, Hyperlordosis, Waddling gait, Kyphosis, Obesity, Osteoarthritis, Platyspondyly, Short ...	OMIM:251450
Chromosome 3Q13.31 Deletion Syndrome	Attention deficit hyperactivity disorder, Macrotia, Low-set ears, Kyphosis	OMIM:615433
Primary Myelofibrosis	Constitutional symptom, Cachexia, Flank pain, Fatigue	ORPHA:824
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Knee osteoarthritis, Arthritis, Synovitis, Oligoarthritis, Arthralgia, Enthes...	ORPHA:85408
Cystinosis, Nephropathic	Delayed puberty, Male infertility, Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitr...	OMIM:219800
Graves Disease	Weight loss	OMIM:275000
Acute Promyelocytic Leukemia	Bone pain, Abdominal pain, Fatigue, Weight loss, Gangrene	ORPHA:520
Dermatomyositis	Myocarditis, Inflammatory myopathy, Myositis, Vasculitis, Sinus tachycardia, EMG: myopathic abnor...	ORPHA:221
Malignant Atrophic Papulosis	Arteritis, Abdominal pain, Fatigue, Abnormal pericardium morphology, Abnormal myocardium morpholo...	ORPHA:679
Ethylene Glycol Poisoning	Hypocalcemia, Hyperkalemia	ORPHA:31826
Hereditary Leiomyomatosis And Renal Cell Cancer	Decreased fumarate hydratase activity	OMIM:150800
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Scoliosis, Kyphosis	ORPHA:1548
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypocalcemia, Hypomagnesemia, Hypokalemia	OMIM:175500
Pontocerebellar Hypoplasia, Type 17	Paroxysmal dystonia, Limb hypertonia, Kyphosis, Secundum atrial septal defect, Ventricular septal...	OMIM:619909
Kleefstra Syndrome 2	Scoliosis, Kyphosis	OMIM:617768
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Tricuspid regurgitation, Skeletal muscle atrophy, Type 1 muscle fiber predominance, Mitral regurg...	OMIM:614557
Srd5A3-Cdg	Optic atrophy, Abnormal sacrum morphology, Ataxia, Kyphosis	ORPHA:324737
Thanatophoric Dysplasia Type 2	Kyphosis, Cognitive impairment, Hearing impairment, Platyspondyly, Atrial septal defect	ORPHA:93274
Steinert Myotonic Dystrophy	Left ventricular systolic dysfunction, Abnormality of masticatory muscle, Talipes equinovarus, At...	ORPHA:273
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Flexion contracture, Weight loss	ORPHA:1979
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Macrotia, Scoliosis, Kyphosis	OMIM:619797
Idiopathic Juvenile Osteoporosis	Bone pain, Vertebral compression fracture, Kyphosis, Gait disturbance	ORPHA:85193
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hip osteoarthritis, Scoliosis, Kyphosis, Hump-shaped mound of bone in central and posterior porti...	OMIM:313400
Marden-Walker Syndrome	Dextrocardia, Scoliosis, Low-set ears, Camptodactyly, Kyphosis, Congenital contracture, Decreased...	OMIM:248700
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Platyspondyly, Scoliosis, Elbow flexion contracture, Kyphosis, Abnormal curvature...	ORPHA:93360
Silver-Russell Syndrome	Low-set, posteriorly rotated ears, Cachexia, Scoliosis, Low-set ears, Obesity, Decreased muscle m...	ORPHA:813
Infantile Nephropathic Cystinosis	Abnormal blood ion concentration, Abnormality of thyroid physiology, Hypophosphatemia, Hypokalemia	ORPHA:411629
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Increased circulating renin level, Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol c...	ORPHA:168558
Xanthinuria, Type I	Myopathy	OMIM:278300
Microsporidiosis	Cachexia, Sinusitis, Myocarditis, Cholangitis, Abdominal pain, Thyroiditis, Nephritis, Weight los...	ORPHA:2552
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the earlobes, Abnormal antihelix mor...	ORPHA:2916
Koolen-De Vries Syndrome	Sacral dimple, Spondylolisthesis, Small for gestational age, Scoliosis, Anteverted ears, Kyphosis...	OMIM:610443
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Optic atrophy, Hypomimic face, Low-set ears, Kyphosis, Cognitive impairment, Exaggerated startle ...	OMIM:617527
Alg1-Cdg	Scoliosis, Abnormal heart morphology, Cardiomyopathy, Kyphosis	ORPHA:79327
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Optic atrophy, Kyphosis, Intention tremor, Inflammation of the large intestine, Head titubation, ...	OMIM:619708
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Increased circulating renin level, Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol c...	ORPHA:289548
Hereditary Fructose Intolerance	Hypermagnesemia, Hypophosphatemia, Hyperuricemia	ORPHA:469
Thanatophoric Dysplasia	Low-set ears, Kyphosis, Hearing impairment, Abnormal sacroiliac joint morphology, Platyspondyly, ...	ORPHA:2655
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abdominal pain, Myalgia, Weight loss	ORPHA:54251
Q Fever	Myocarditis, Abnormal heart valve morphology, Fatigue, Hepatitis, Pericarditis, Pericardial effus...	ORPHA:781
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Hyponatremia, Hyperkalemia, Hypercholesterolemia	ORPHA:275761
Congenital Disorder Of Glycosylation, Type Ia	Tremor, Cardiomyopathy, Kyphosis, Intention tremor, Pericarditis, Macrotia, Pericardial effusion,...	OMIM:212065
Scorpion Envenomation	Myocarditis, Congestive heart failure, Prominent U wave, Abdominal pain, Hypertension, Pain, Prem...	ORPHA:466677
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Scoliosis, Kyphosis, Slender build	OMIM:300676
Cockayne Syndrome	Urinary incontinence, Cachexia, Kyphosis, Cognitive impairment, Action tremor, Ataxia, Optic atro...	ORPHA:191
Combined Immunodeficiency Due To Crac Channel Dysfunction	Myopathy	ORPHA:169090
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Scoliosis, Tremor, Kyphosis, Gait ataxia, Failure to thrive, Attention defi...	ORPHA:476126
Ménétrier Disease	Asthenia, Weight loss, Abdominal pain	ORPHA:2494
Thymoma	Myositis, Rheumatoid arthritis, Weight loss, Night sweats, Myalgia, Chest pain, Ulcerative coliti...	ORPHA:99867
Wolf-Hirschhorn Syndrome	Optic atrophy, Chronic otitis media, Congenital diaphragmatic hernia, Sacral dimple, Abnormal ver...	ORPHA:280
Snakebite Envenomation	Rhabdomyolysis, Pain, Muscle fiber necrosis	ORPHA:449285
East Syndrome	Increased circulating renin level, Hypomagnesemia, Hypokalemia	ORPHA:199343
Lynch Syndrome	Irritability, Memory impairment, Depression, Abdominal pain, Gait disturbance, Fatigue, Flexion c...	ORPHA:144
Immunodeficiency 31C	Chronic oral candidiasis, Chronic mucocutaneous candidiasis, Recurrent vulvovaginal candidiasis, ...	OMIM:614162
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Optic atrophy, Difficulty walking, Sclerotic vertebral body, Kyphosis, Cognitive impairment, Atax...	OMIM:618476
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Limb hypertonia, Scoliosis, Low-set ears, Kyphosis, Posteriorly ...	OMIM:617190
Oligomeganephronia	Elevated circulating creatinine concentration	ORPHA:2260
Wolfram Syndrome 1	Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus	OMIM:222300
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Thyroiditis, Skin rash, Pustule, Infectious encephalitis, Weight loss, Erythroderma,...	ORPHA:139402
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Atrioventricular canal defect, Abnormal pulmonary valve morpholo...	ORPHA:500
Igg4-Related Aortitis	Low back pain, Abdominal pain, Weight loss	ORPHA:449400
Kyphoscoliotic Ehlers-Danlos Syndrome	Dextrocardia, Talipes equinovarus, Subdural hemorrhage, Arachnodactyly, Cerebral hemorrhage, Skel...	ORPHA:536545
Hypomelanosis Of Ito	Scoliosis, Kyphosis	OMIM:300337
Poems Syndrome	Hyperesthesia, Pain, Fatigue, Pericardial effusion, Papilledema, Weight loss, Sclerotic vertebral...	ORPHA:2905
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Kyphosis, Cognitive impairment, Head titubation, Ataxia, Bicuspid aortic valve, Tip-toe gait, Irr...	OMIM:619475
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Abnormal pinna morphology, Low-set ears, Kyphosis	ORPHA:77300
Dent Disease 1	Hypophosphatemia	OMIM:300009
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Congenital Tufting Enteropathy	Irritability, Arthritis, Punctate keratitis, Failure to thrive, Optic disc coloboma, Weight loss	ORPHA:92050
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Multiple Pterygium Syndrome, Escobar Variant	Anterior clefting of vertebral bodies, Congenital diaphragmatic hernia, Fused cervical vertebrae,...	OMIM:265000
Eosinophilic Gastroenteritis	Abdominal pain, Weight loss	ORPHA:2070
Congenital Disorder Of Glycosylation, Type Il	Low-set ears, Kyphosis, Pericardial effusion, Failure to thrive, Short neck, Atrial septal defect	OMIM:608776
Friedreich Ataxia 2	Congestive heart failure, Hammertoe, Concentric hypertrophic cardiomyopathy, Decreased pyruvate c...	OMIM:601992
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Heart block, Cardiomyopathy, Decreased plasma total carnitine, Abnormal myocardium morphology, Ar...	ORPHA:228308
Hurler Syndrome	Recurrent otitis media, Cardiomyopathy, Kyphosis, Hearing impairment, Biconcave vertebral bodies,...	OMIM:607014
Pearson Syndrome	Decreased response to growth hormone stimulation test, Hypoparathyroidism, Hypokalemia, Hypocalce...	ORPHA:699
Riddle Syndrome	Emotional lability, Abdominal pain, Arthritis, Gait disturbance, Recurrent sinusitis, Ataxia, Rec...	ORPHA:420741
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Bullous Pemphigoid	Weight loss	ORPHA:703
Plaa-Associated Neurodevelopmental Disorder	Optic atrophy, Low-set, posteriorly rotated ears, Limb hypertonia, Sensorineural hearing impairme...	ORPHA:521426
Erdheim-Chester Disease	Abnormal aortic valve morphology, Bone pain, Abdominal pain, Skin rash, Fatigue, Abnormal pericar...	ORPHA:35687
Smith-Mccort Dysplasia 1	Beaking of vertebral bodies, Scoliosis, Waddling gait, Kyphosis, Atlantoaxial instability, Hypopl...	OMIM:607326
Primary Unilateral Adrenal Hyperplasia	Decreased circulating renin level, Hypokalemia	ORPHA:231580
Pemphigus Vulgaris	Pain, Weight loss	ORPHA:704
Intellectual Developmental Disorder, Autosomal Dominant 57	Tip-toe gait, Contracture of the proximal interphalangeal joint of the 4th finger, Scoliosis, Kyp...	OMIM:618050
Cockayne Syndrome Type 3	Difficulty walking, Keratoconjunctivitis sicca, Scoliosis, Cardiomyopathy, Adult onset sensorineu...	ORPHA:90324
Fliedner-Zweier Syndrome	Scoliosis, Tethered cord, Kyphosis, Obesity, Bicuspid aortic valve, Ventricular septal defect	OMIM:620511
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Scoliosis, Kyphosis	ORPHA:1858
Marden-Walker Syndrome	Muscular dystrophy, Situs inversus totalis, Abnormal anatomic location of the heart, Dextrocardia...	ORPHA:2461
Carney-Stratakis Syndrome	Abdominal pain, Weight loss	ORPHA:97286
Gallbladder Neuroendocrine Tumor	Chronic fatigue, Episodic abdominal pain, Weight loss	ORPHA:100086
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia	ORPHA:405
Alport Syndrome 3A, Autosomal Dominant	Hypophosphatemia, Azotemia	OMIM:104200
Sickle Cell Anemia	Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia	ORPHA:232
Lymphoid Interstitial Pneumonia	Skin rash, Fatigue, Eczematoid dermatitis, Rheumatoid arthritis, Failure to thrive, Weight loss, ...	ORPHA:79128
Hereditary Pheochromocytoma-Paraganglioma	Tremor, Episodic abdominal pain, Fatigue, Cranial nerve compression, Conductive hearing impairmen...	ORPHA:29072
Familial Hyperaldosteronism Type Iii	Hypokalemia	ORPHA:251274
Bruck Syndrome	Platyspondyly, Scoliosis, Arthrogryposis multiplex congenita, Kyphosis	ORPHA:2771
Renal Nutcracker Syndrome	Abdominal pain, Flank pain, Weight loss, Fatigue	ORPHA:71273
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia, Scoliosis, Kyphosis, Abnormal mitral valve morphology, Skeletal muscle atrophy	ORPHA:1969
Williams Syndrome	Hypertension, Cerebral ischemia, Pulmonic stenosis, Ataxia, Mitral valve prolapse, Bicuspid aorti...	ORPHA:904
Paroxysmal Nocturnal Hemoglobinuria	Increased blood urea nitrogen, Reduced haptoglobin level, Decreased circulating iron concentratio...	ORPHA:447
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypokal...	ORPHA:534
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Sensorineural hearing impairment, Scoliosis, Joint contracture, Kyphosis	OMIM:615381
Clark-Baraitser syndrome	Scoliosis, Obesity, Kyphosis	OMIM:300602
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Protruding ear, Ankle flexion contracture, Scoliosis, Ventricular septal defect, Gait disturbance...	ORPHA:464311
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Scoliosis, Low-set ears, Kyphosis, Abnormal cardiac septum morph...	ORPHA:2075
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia	OMIM:613090
Brugada Syndrome 5	ST segment elevation, Ventricular fibrillation, Bundle branch block	OMIM:612838
Distal 16P11.2 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Obesity, Aganglionic megacolon, Kyphosis	ORPHA:261222
Malt Lymphoma	Abdominal pain, Weight loss, Fatigue	ORPHA:52417
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Large for gestational age, Sacral dimple, Kyphosis	OMIM:618272
Foxg1 Syndrome Due To 14Q12 Microdeletion	Abnormal antihelix morphology, Scoliosis, Kyphosis, Protruding ear, Macroglossia	ORPHA:261144
Nocardiosis	Scleritis, Thyroiditis, Abnormal heart valve morphology, Cutaneous abscess, Fatigue, Lymphadeniti...	ORPHA:31204
Congenital Heart Defects And Skeletal Malformations Syndrome	Congenital diaphragmatic hernia, Scoliosis, Camptodactyly, Kyphosis, Failure to thrive, Atrial se...	OMIM:617602
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Scoliosis, Low-set ears, Kyphosis, Abnormal heart morphology, Attention deficit hyperactivity dis...	ORPHA:404440
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pancreatitis, Depression, Emotional lability, Kyphosis, Truncal obesity, Mental deterioration	OMIM:610475
Castleman Disease	Abdominal pain, Flank pain, Fatigue, Constitutional symptom, Weight loss	ORPHA:160
Rett Syndrome, Congenital Variant	Irritability, Chorea, Scoliosis, Athetosis, Kyphosis, Dystonia, Protruding ear	OMIM:613454
Brachyolmia Type 3	Scoliosis, Kyphosis, Platyspondyly, Short neck, Spinal cord compression	OMIM:113500
Granulomatosis With Polyangiitis	Chronic otitis media, Asthenia, Fatigue, Episcleritis, Sinusitis, Keratitis, Weight loss, Conjunc...	OMIM:608710
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Muscular dystrophy, Skeletal muscle hypertrophy, Congenital contracture, Increased variability in...	OMIM:613150
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat...	ORPHA:3337
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Gastritis, Myositis, Thyroiditis, Cachexia, Tubulointerstitial nephritis, Eczematoid dermatitis, ...	ORPHA:37042
Difference Of Sex Development-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Spina bifida occulta, Microtia, Kyphosis, Severe sensorineural...	ORPHA:2983
Fountain Syndrome	Spina bifida occulta, Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Sc...	ORPHA:3219
Aicardi-Goutieres Syndrome 7	Irritability, Limb hypertonia, Arthritis, Skin rash, Chilblains, Atopic dermatitis, Hypertrophic ...	OMIM:615846
Pancreatoblastoma	Abdominal pain, Weight loss	ORPHA:677
Apparent Mineralocorticoid Excess	Decreased circulating renin level, Hypokalemia	ORPHA:320
Glycerol Kinase Deficiency	Small for gestational age, Muscular dystrophy, Myalgia, Myopathy	OMIM:307030
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Muscular dystrophy, Increased variability in muscle fiber diameter	OMIM:616538
Primary Hepatic Neuroendocrine Carcinoma	Night sweats, Chronic fatigue, Episodic abdominal pain, Weight loss	ORPHA:100085
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis, Frontotemporal dementia, Dementia, Memory impairment	OMIM:619132
Multiple Endocrine Neoplasia, Type Iib	Failure to thrive in infancy, Myopathy, Proximal femoral epiphysiolysis	OMIM:162300
Achondroplasia	Cervical spinal canal stenosis, Kyphosis, Hearing impairment, Spinal canal stenosis, Obesity, Tho...	ORPHA:15
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Scoliosis, Low-set ears, Kyphosis, Acne, Atrial septal defect, Ventricular septal defect	ORPHA:261190
Infection-Related Hemolytic Uremic Syndrome	Hypocalcemia, Hyponatremia, Hyperkalemia	ORPHA:544482
Primary Hyperoxaluria	Heart block, Bone pain, Cardiomyopathy, Intermittent claudication, Failure to thrive, Raynaud phe...	ORPHA:416
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Weismann-Netter Syndrome	Scoliosis, Horizontal sacrum, Kyphosis	OMIM:112350
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
1P36 Deletion Syndrome	Clinodactyly of the 5th finger, Abnormal cardiac septum morphology, Abnormal heart valve morpholo...	ORPHA:1606
Multiple Pterygium-Malignant Hyperthermia Syndrome	Congenital muscular torticollis, Scoliosis, Kyphosis, Conductive hearing impairment, Camptodactyl...	ORPHA:2215
Isolated Permanent Neonatal Diabetes Mellitus	Lower-limb joint contracture, Hearing impairment, Failure to thrive, Abnormal heart morphology, A...	ORPHA:99885
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of the earlobes, Abnormal antihelix morphology, Kyphosis, Abnormal antitragus ...	ORPHA:3082
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Scoliosis, Kyphosis	OMIM:259440
Osteogenesis Imperfecta	Mixed hearing impairment, Abnormal form of the vertebral bodies, Trigeminal neuralgia, Kyphosis, ...	ORPHA:666
3M Syndrome	Increased vertebral height, Scoliosis, Hyperlordosis, Scapular winging, Kyphosis, Protruding ear,...	ORPHA:2616
Pyomyositis	Myalgia, Sudden cardiac death, Weight loss	ORPHA:764
Polycythemia Vera	Abdominal pain, Fatigue, Arthralgia, Weight loss, Erythromelalgia	ORPHA:729
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Decreased circulating renin level, Hypokalemia	ORPHA:231625
Late-Onset Isolated Acth Deficiency	Abdominal pain, Fatigue, Failure to thrive, Arthralgia, Weight loss	ORPHA:199299
Hurler-Scheie Syndrome	Scoliosis, Kyphosis, Hand pain, Camptodactyly of finger, Thenar muscle atrophy, Contracture of th...	OMIM:607015
Koolen-De Vries Syndrome Due To A Point Mutation	Spondylolisthesis, Hyperlordosis, Cardiomyopathy, Kyphosis, Pulmonic stenosis, Abnormal heart mor...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Spondylolisthesis, Hyperlordosis, Cardiomyopathy, Kyphosis, Pulmonic stenosis, Abnormal heart mor...	ORPHA:363958
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Scoliosis, Low-set ears, Kyphosis, Hearing impairment, Camptodactyly of finger, Secundum atrial s...	OMIM:619951
Reactive Arthritis	Recurrent aphthous stomatitis, Abdominal pain, Arthritis, Cognitive impairment, Pericarditis, Pus...	ORPHA:29207
Cholera	Abnormal blood ion concentration, Hyponatremia, Hypokalemia, Hypocalcemia	ORPHA:173
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Scoliosis, Ventricular septal defect, Gait disturbance, Eczematoid d...	ORPHA:464306
3-Hydroxy-3-Methylglutaric Aciduria	Acute pancreatitis, Fatigue, Ataxia, Weight loss, Dilated cardiomyopathy	ORPHA:20
Dyggve-Melchior-Clausen Disease	Beaking of vertebral bodies, Scoliosis, Thoracic kyphosis, Waddling gait, Kyphosis, Camptodactyly...	OMIM:223800
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Kyphoscoliosis, Microtia, Ventricular hypertrophy, Kyphosis, Pulmonic stenosis, Aortic valve sten...	OMIM:143095
Thymic Neuroendocrine Tumor	Chest pain, Weight loss	ORPHA:97289
Aredyld Syndrome	Abnormal tragus morphology, Cachexia, Scoliosis, Low-set, posteriorly rotated ears	ORPHA:1133
Lesch-Nyhan Syndrome	Testicular atrophy, Hyperuricemia	OMIM:300322
Postinfectious Vasculitis	Gastrointestinal inflammation, Abnormality of the peripheral nervous system, Abdominal pain, Bact...	ORPHA:48435
Tetrasomy 12P	Cachexia	ORPHA:884
Granulomatosis With Polyangiitis	Chronic otitis media, Prostatitis, Pancreatitis, Inflammatory abnormality of the eye, Abdominal p...	ORPHA:900
Familial Pancreatic Carcinoma	Abdominal pain, Chronic fatigue, Weight loss, Back pain	ORPHA:1333
Acro-Renal-Mandibular Syndrome	Congenital diaphragmatic hernia, Butterfly vertebrae, Low-set, posteriorly rotated ears, Scoliosi...	ORPHA:958
Alkaptonuria	Intervertebral disk degeneration, Arthritis, Kyphosis, Thickened Achilles tendon, Mitral valve ca...	OMIM:203500
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Contracture of the proximal interphalangeal joint of the 4th finger, Scoliosis, Hemivertebrae, Lo...	OMIM:618223
Systemic Mastocytosis With Associated Hematologic Neoplasm	Bone pain, Abdominal pain, Fatigue, Arthralgia, Weight loss, Myalgia	ORPHA:98849
Marshall-Smith Syndrome	Kyphoscoliosis, Optic nerve hypoplasia, Kyphosis, Recurrent aspiration pneumonia, Scoliosis, Hear...	OMIM:602535
Marburg Hemorrhagic Fever	Hypokalemia, Hyperamylasemia, Elevated circulating creatine kinase concentration, Hyperammonemia,...	ORPHA:99826
Marfan Syndrome	Tricuspid valve prolapse, Spondylolisthesis, Dural ectasia, Cachexia, Scoliosis, Kyphosis, Mitral...	ORPHA:558
Acrodermatitis Enteropathica	Cheilitis, Emotional lability, Blepharitis, Pustule, Failure to thrive, Weight loss, Conjunctivitis	ORPHA:37
Secondary Short Bowel Syndrome	Failure to thrive, Weight loss	ORPHA:95427
Magel2-Related Prader-Willi-Like Syndrome	Impaired temperature sensation, Scoliosis, Increased body weight, Kyphosis, Cognitive impairment,...	ORPHA:398069
Raine Syndrome	Hypophosphatemia	OMIM:259775
Medullary Thyroid Carcinoma	Weight loss	ORPHA:1332
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Optic atrophy, Cachexia, Confusion, Skin rash, Hearing impairment, Ataxia	ORPHA:220295
Primary Sclerosing Cholangitis	Pancreatitis, Depression, Abdominal pain, Thyroiditis, Fatigue, Generalized amyotrophy, Ulcerativ...	ORPHA:171
Budd-Chiari Syndrome	Abdominal pain, Weight loss	ORPHA:131
Basel-Vanagaite-Smirin-Yosef Syndrome	Difficulty walking, Inability to walk, Scoliosis, Low-set ears, Kyphosis, Recurrent pneumonia, Co...	ORPHA:464738
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Kyphoscoliosis, Scoliosis, Tremor, Patent foramen ovale, Ventricular septal defect, Kyphosis, Lef...	OMIM:300967
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Perimembranous ventricular septal defect, Sensorineural hearing impairment, Micro...	OMIM:301040
Bronchial Neuroendocrine Tumor	Night sweats, Chest pain, Weight loss	ORPHA:97287
Neuroendocrine Tumor Of The Colon	Abdominal pain, Weight loss	ORPHA:100080
Stromme Syndrome	Preaxial polydactyly, Myopathy	OMIM:243605
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Abnormal form of the vertebral bodies, Scoliosis, Calcification of the auricular cartilage, Gait ...	ORPHA:3042
Noonan Syndrome 14	Low-set ears, Scapular winging, Kyphosis, Hypertrophic cardiomyopathy, Pulmonic stenosis, Posteri...	OMIM:619745
Intellectual Developmental Disorder, X-Linked 112	Kyphoscoliosis, Bicuspid aortic valve, Scoliosis, Pain, Fatigue, Kyphosis, Abnormal heart morphol...	OMIM:301111
Marfanoid Habitus With Situs Inversus	Situs inversus totalis, Scoliosis, Kyphosis, Pulmonic stenosis, Mitral valve prolapse	OMIM:609008
Mercury Poisoning	Hypokalemia	ORPHA:330021
Helix Syndrome	Hypermagnesemia, Hypokalemia	OMIM:617671
Microphthalmia, Lenz Type	Low-set, posteriorly rotated ears, Abnormal pinna morphology, Hyperlordosis, Scoliosis, Kyphosis,...	ORPHA:568
Neurodegeneration With Brain Iron Accumulation 1	Urinary incontinence, Decreased muscle mass, Ataxia, Choreoathetosis, Myopathy	OMIM:234200
Wolman Disease	Cachexia	ORPHA:75233
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Abnormal heart valve morphology, Scoliosis, Kyphosis, Hypertrophic c...	OMIM:230500
Trisomy 18	Congenital diaphragmatic hernia, Low-set, posteriorly rotated ears, Cachexia, Pointed helix, Spin...	ORPHA:3380
Ruvalcaba Syndrome	Scoliosis, Kyphosis	OMIM:180870
Stickler Syndrome	Chronic otitis media, Spondylolisthesis, Abnormal form of the vertebral bodies, Bone pain, Sensor...	ORPHA:828
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Hypokalemia, Hypocalcemia, Hyponatremia, Aminoaciduria	OMIM:617913
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration	ORPHA:93126
Dysostosis, Stanescu Type	Scoliosis, Hyperlordosis, Kyphosis, Short neck, Macroglossia	ORPHA:1798
Trisomy 9P	Sacral dimple, Scoliosis, Kyphosis, Macrotia, Protruding ear, Short neck	ORPHA:236
Amoebiasis Due To Entamoeba Histolytica	Acute colitis, Abdominal pain, Abnormal pericardium morphology, Weight loss, Chest pain, Constric...	ORPHA:67
Megalocornea-Intellectual Disability Syndrome	Sensorineural hearing impairment, Scoliosis, Kyphosis, Ataxia, Protruding ear	ORPHA:2479
Juvenile Polyposis Syndrome	Hypoalbuminemia, Hypokalemia	OMIM:174900
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal pain, Weight loss, Fatigue	ORPHA:309031
Osteootohepatoenteric Syndrome	Abdominal pain, Failure to thrive, Weight loss	OMIM:619377
16Q24.3 Microdeletion Syndrome	Chronic otitis media, Optic nerve hypoplasia, Scoliosis, Kyphosis, Hearing impairment, Protruding...	ORPHA:261250
Adrenocortical Carcinoma	Abdominal pain, Increased body weight, Weight loss	ORPHA:1501
Cohen Syndrome	Optic atrophy, Aplasia/Hypoplasia of the earlobes, Sensorineural hearing impairment, Scoliosis, K...	ORPHA:193
Prader-Willi Syndrome	Impaired pain sensation, Scoliosis, Kyphosis, Obesity, Decreased muscle mass, Class III obesity, ...	OMIM:176270
Systemic Lupus Erythematosus	Cheilitis, Depression, Malar rash, Discoid lupus rash, Arthritis, Chorea, Malaise, Fatigue, Weigh...	ORPHA:536
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Beta-Ketothiolase Deficiency	Ataxia, Weight loss, Body odor	ORPHA:134
Cockayne Syndrome A	Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi...	OMIM:216400
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Limb ataxia, Azoospermia, Broad-based gait, Sensorineural hearing impairment, Bacterial endocardi...	ORPHA:2072
Spondyloenchondrodysplasia	Pneumonia, Platyspondyly, Juvenile rheumatoid arthritis, Arthritis, Skin rash, Chorea, Kyphosis, ...	ORPHA:1855
Pneumocystosis	Acute infectious pneumonia, Chronic oral candidiasis, Interstitial pneumonitis, Weight loss	ORPHA:723
Koolen-De Vries Syndrome	Bicuspid aortic valve, Abnormal cardiac septum morphology, Scoliosis, Vertebral segmentation defe...	ORPHA:96169
Marfanoid-Progeroid-Lipodystrophy Syndrome	Dural ectasia, Scapular winging, Kyphosis, Mitral valve prolapse, Keratoconjunctivitis sicca	OMIM:616914
19Q13.11 Microdeletion Syndrome	Hearing impairment, Cachexia, Ventricular septal defect, Failure to thrive	ORPHA:217346
Neuroendocrine Tumor Of The Rectum	Abdominal pain, Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Abdominal pain, Weight loss	ORPHA:100082
Harrod Syndrome	Protruding ear, Failure to thrive, Scoliosis, Kyphosis	ORPHA:2115
Thanatophoric Dysplasia Type 1	Kyphosis, Hearing impairment, Abnormal sacroiliac joint morphology, Platyspondyly, Atrial septal ...	ORPHA:1860
Basel-Vanagaite-Smirin-Yosef Syndrome	Scoliosis, Low-set ears, Kyphosis, Uplifted earlobe, Recurrent pneumonia, Atrial septal defect, V...	OMIM:616449
Pycnodysostosis	Chronic pain, Spondylolysis, Spondylolisthesis, Scoliosis, Hyperlordosis, Kyphosis, Overweight, M...	ORPHA:763
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Dyspepsia, Precordial pain, Failure to thrive, Weight loss, Chest pain	ORPHA:1018
Bartter Syndrome, Type 3	Increased circulating renin level, Hyperchloriduria, Hypokalemia	OMIM:607364
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Kyphoscoliosis, Large for gestational age, Difficulty walking, Low-set, posteriorly rotated ears,...	ORPHA:457359
Frank-Ter Haar Syndrome	Kyphoscoliosis, Prominent coccyx, Anterior concavity of thoracic vertebrae, Patent foramen ovale,...	OMIM:249420
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Kyphosis, Hearing impairment, Thenar muscle atrophy, Non-obstructive azoospermia, Small hypothena...	ORPHA:2232
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Caudal interpedicular narrowing, Scoliosis, Kyphosis, Posterior scalloping of vertebral bodies, I...	OMIM:603546
X-Linked Intellectual Disability, Snyder Type	Kyphoscoliosis, Inability to walk, Small earlobe, Low-set ears, Kyphosis, Camptodactyly, Decrease...	ORPHA:3063
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Increased circulating renin level, Hypomagnesemia, Hypokalemia	OMIM:612780
Fanconi Anemia	Aganglionic megacolon, Abnormal aortic valve morphology, Azoospermia, Abnormal pinna morphology, ...	ORPHA:84
Stevens-Johnson Syndrome	Pancreatitis, Abdominal pain, Fatigue, Abnormal myocardium morphology, Weight loss, Conjunctiviti...	ORPHA:36426
Mosaic Trisomy 20	Fused cervical vertebrae, Scoliosis, Vertebral segmentation defect, Kyphosis, Hearing impairment,...	ORPHA:1724
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperbilirubinemia, Hypophosphatemia, Hyperuricemia	OMIM:229600
Tropical Pancreatitis	Weight loss, Epigastric pain	ORPHA:103918
Primary Intestinal Lymphangiectasia	Abdominal pain, Weight loss	ORPHA:90362
Osteogenesis Imperfecta, Type Iii	Hearing impairment, Scoliosis, Biconcave vertebral bodies, Kyphosis	OMIM:259420
Weismann-Netter Syndrome	Scoliosis, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:3344
Insulin-Resistance Syndrome Type B	Skin rash, Increased body weight, Abnormality of body weight, Decreased body weight, Fatigue, Nep...	ORPHA:2298
Toxic Epidermal Necrolysis	Pancreatitis, Abdominal pain, Fatigue, Abnormal myocardium morphology, Weight loss, Conjunctiviti...	ORPHA:537
Igg4-Related Kidney Disease	Prostatitis, Pancreatitis, Sclerosing cholangitis, Arteritis, Abdominal pain, Thyroiditis, Lympha...	ORPHA:449395
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Urinary incontinence, Recurrent otitis media, Kyphosis, Bowel incontinence, Hearing impairment, P...	OMIM:616482
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Camptodactyly, Kyphosis, Pulmonic stenosis, Protruding ear, Ventri...	OMIM:619123
2Q31.1 Microdeletion Syndrome	Scoliosis, Vertebral segmentation defect, Low-set ears, Kyphosis, Camptodactyly of finger, Optic ...	ORPHA:251014
Xfe Progeroid Syndrome	Optic atrophy, Cachexia, Scoliosis, Hearing impairment, Failure to thrive	OMIM:610965
Intellectual Developmental Disorder, Autosomal Dominant 73	Tip-toe gait, Recurrent otitis media, Microtia, Hyperlordosis, Low-set ears, Anteverted ears, Sco...	OMIM:620450
Short Syndrome	Weight loss	ORPHA:3163
Atelis Syndrome 2	Protruding ear, Sacral dimple, Low-set ears, Kyphosis, Supravalvar pulmonary stenosis, Pulmonic s...	OMIM:620185
Kikuchi-Fujimoto Disease	Myocarditis, Malar rash, Skin rash, Fatigue, Pustule, Chills, Arthralgia, Ataxia, Weight loss, Ni...	ORPHA:50918
Hajdu-Cheney Syndrome	Syringomyelia, Periodontitis, Bone pain, Scoliosis, Low-set ears, Kyphosis, Hearing impairment, B...	ORPHA:955
Imerslund-Gräsbeck Syndrome	Failure to thrive, Weight loss	ORPHA:35858
Nijmegen Breakage Syndrome	Rhabdomyosarcoma, Cachexia, Macrotia, Recurrent pneumonia, Skeletal muscle atrophy, Attention def...	ORPHA:647
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Abnormal antihelix morphology, Abnormal helix morphology, Scol...	ORPHA:1005
Ruvalcaba Syndrome	Abnormal vertebral epiphysis morphology, Scoliosis, Kyphosis	ORPHA:3121
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyperkalemia, Hyponatremia, Hypochloremia	ORPHA:90794
Cowden Syndrome 5	Thyroiditis, Scoliosis, Kyphosis, Intention tremor, Hearing impairment	OMIM:615108
Dent Disease	Renal hypophosphatemia, Elevated circulating creatine kinase concentration	ORPHA:1652
Pigmented Nodular Adrenocortical Disease, Primary, 1	Depression, Emotional lability, Kyphosis, Truncal obesity, Mental deterioration	OMIM:610489
Goodpasture Syndrome	Increased blood urea nitrogen	OMIM:233450
Mgat2-Cdg	Abnormal earlobe morphology, Low-set, posteriorly rotated ears, Scoliosis, Ventricular septal def...	ORPHA:79329
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Scoliosis, Patent foramen ovale, Low-set ears, Kyphosis, Camptodactyly, Hearing im...	OMIM:616894
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Kyphosis, Back pain, Sacroiliac arthritis, Inflammation of the large intestin...	OMIM:106300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Muscular dystrophy, Increased endomysial connective tissue, Flexion contracture	OMIM:613154
Cowden Syndrome 6	Thyroiditis, Scoliosis, Kyphosis, Intention tremor, Hearing impairment	OMIM:615109
Microform Holoprosencephaly	Tetralogy of Fallot, EMG: myopathic abnormalities	ORPHA:280200
Hermansky-Pudlak Syndrome	Abdominal pain, Weight loss, Fatigue	ORPHA:79430
Monosomy 9Q22.3	Large for gestational age, Rhabdomyosarcoma, Abnormality of the vertebral column, Low-set ears, K...	ORPHA:77301
Caroli Disease	Abdominal rigidity, Abdominal pain, Chills, Weight loss	ORPHA:53035
Familial Thrombocytosis	Chest pain, Weight loss	ORPHA:71493
Progressive Non-Infectious Anterior Vertebral Fusion	Spinal rigidity, Abnormal intervertebral disk morphology, Abnormality of the vertebral column, Bo...	ORPHA:2062
Igg4-Related Dacryoadenitis And Sialadenitis	Optic nerve compression, Myositis, Thyroiditis, Fatigue, Tubulointerstitial nephritis, Weight los...	ORPHA:79078
Immunodeficiency 82 With Systemic Inflammation	Spinal cord granuloma, Recurrent otitis media, Gastritis, Cholesteatoma, Abdominal pain, Skin ras...	OMIM:619381
Weaver Syndrome	Scoliosis, Diastasis recti, Camptodactyly, Kyphosis, Macrotia, Joint contracture of the hand	OMIM:277590
Micro Syndrome	Optic atrophy, Low-set, posteriorly rotated ears, Scoliosis, Kyphosis, Macrotia	ORPHA:2510
Chromosome Xq26.3 Duplication Syndrome	Ventricular hypertrophy, Kyphosis, Arthralgia, Body odor	OMIM:300942
Classical-Like Ehlers-Danlos Syndrome Type 2	Kyphoscoliosis, Sacral dimple, Impaired temperature sensation, Periodontitis, Kyphosis, Macrotia,...	ORPHA:536532
Mend Syndrome	Sacral dimple, Limb hypertonia, Low-set ears, Abnormal auditory evoked potentials, Kyphosis, Aort...	ORPHA:401973
Acromegaly	Depression, Fatigue, Kyphosis, Hypertrophic cardiomyopathy, Macrotia, Spinal canal stenosis, Arth...	ORPHA:963
Autosomal Recessive Robinow Syndrome	Chronic otitis media, Sacral dimple, Abnormal tricuspid valve morphology, Low-set, posteriorly ro...	ORPHA:1507
Cono-Spondylar Dysplasia	Scoliosis, Low-set ears, Kyphosis, Failure to thrive, Short neck	ORPHA:420794
Seckel Syndrome	Abnormal earlobe morphology, Cachexia, Scoliosis, Absent earlobe, Cognitive impairment	ORPHA:808
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Hypophosphatemic rickets	ORPHA:289176
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Bilateral camptodactyly, Absent earlobe, Scoliosis, Kyphosis, Hearing impairment, Protruding ear	OMIM:619557
Cowden Syndrome	Scoliosis, Kyphosis, Cognitive impairment, Hearing impairment, Failure to thrive, Ataxia, Macrogl...	ORPHA:201
Autosomal Recessive Malignant Osteopetrosis	Hypocalcemia, Hypophosphatemia	ORPHA:667
Cockayne Syndrome B	Optic atrophy, Decreased nerve conduction velocity, Severe failure to thrive, Sensorineural heari...	OMIM:133540
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Sacral dimple, Broad-based gait, Scoliosis, Gait disturbance, Kyphosis, Hearing impairment, Aorti...	ORPHA:268261
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula...	OMIM:601678
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Gitelman Syndrome	Increased circulating renin level, Hypomagnesemia, Hypokalemia	OMIM:263800
Ileal Neuroendocrine Tumor	Chronic fatigue, Episodic abdominal pain, Weight loss	ORPHA:100078
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Sensorineural hearing impairment, Attached earlobe, Scoliosis, Low-set ears, Elbow flexion contra...	OMIM:619194
Methylmalonic Aciduria, Cblb Type	Decreased methylmalonyl-CoA mutase activity, Dilated cardiomyopathy	OMIM:251110
Cowden Syndrome 1	Thyroiditis, Scoliosis, Kyphosis, Intention tremor, Hearing impairment	OMIM:158350
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Large for gestational age, Scoliosis, Hyperlordosis, Low-set ears, Kyphosis, Gait ataxia, Macroti...	OMIM:617011
Yellow Fever	Hyperbilirubinemia, Elevated circulating creatinine concentration, Elevated circulating creatine ...	ORPHA:99829
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Somatomammotropinoma	Depression, Fatigue, Kyphosis, Hypertrophic cardiomyopathy, Macrotia, Spinal canal stenosis, Arth...	ORPHA:314769
Alstrom Syndrome	Chronic active hepatitis, Sensorineural hearing impairment, Scoliosis, Tubulointerstitial nephrit...	OMIM:203800
Smith-Lemli-Opitz Syndrome	Optic atrophy, Congenital diaphragmatic hernia, Aganglionic megacolon, Atrioventricular canal def...	ORPHA:818
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia	OMIM:602522
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Platyspondyly, Hyperlordosis, Kyphosis, Camptodactyly, Thoracolumbar scoliosis, Ovoid vertebral b...	OMIM:618019
X-Linked Hypophosphatemia	Hypophosphatemia	ORPHA:89936
Spondyloperipheral Dysplasia	Sensorineural hearing impairment, Kyphosis, Ovoid vertebral bodies, Irregular vertebral endplates...	OMIM:271700
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating renin level, Hypokalemia	ORPHA:90795
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Abdominal pain, Skin rash, Chronic gastritis, Arthritis, Esophagitis, Inflammat...	OMIM:301074
Tubulointerstitial Nephritis And Uveitis Syndrome	Abdominal pain, Skin rash, Flank pain, Posterior uveitis, Fatigue, Ocular pain, Papilledema, Nong...	ORPHA:91500
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Decreased methylmalonyl-CoA mutase activity	OMIM:277410
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Impaired pain sensation, Scoliosis, Decreased body weight, Kyphosis, Attention deficit hyperactiv...	OMIM:619005
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Cheilitis, Aganglionic megacolon, Abnormal vertebral morphology, Abnormality of the vertebral col...	ORPHA:2273
Bartter Syndrome Type 4	Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Hypomagnesemia	ORPHA:89938
Cushing Syndrome Due To Ectopic Acth Secretion	Asthenia, Acne, Vertebral compression fracture, Memory impairment, Depression, Emotional lability...	ORPHA:99889
Wolf-Hirschhorn Syndrome	Sacral dimple, Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Scoliosis...	OMIM:194190
Neuroendocrine Tumor Of Stomach	Episodic abdominal pain, Weight loss	ORPHA:100075
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Andersen Cardiodysrhythmic Periodic Paralysis	Hypokalemia	OMIM:170390
Hutchinson-Gilford Progeria Syndrome	Abnormal aortic valve morphology, Hip pain, Severe failure to thrive, Prominent ear helix, Aortic...	ORPHA:740
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Scoliosis, Low-set ears, Kyphosis, Hearing impairment, Short ...	ORPHA:140
Poland Syndrome	Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Dextrocardia, Spina bifi...	ORPHA:2911
Cole-Carpenter Syndrome 2	Platyspondyly, Kyphosis	OMIM:616294
Zttk Syndrome	Optic atrophy, Scoliosis, Hemivertebrae, Low-set ears, Kyphosis, Failure to thrive, Flexion contr...	OMIM:617140
Glucagonoma	Depression, Stomatitis, Skin rash, Episodic abdominal pain, Chronic fatigue, Weight loss	ORPHA:97280
Mucolipidosis Iii Alpha/Beta	Scoliosis, Cardiomyopathy, Spondylolisthesis, Kyphosis	OMIM:252600
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyperkalemia, Hyponatremia, Decreased circulating renin level	OMIM:201750
Somatostatinoma	Chronic fatigue, Episodic abdominal pain, Weight loss	ORPHA:97283
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Decreased circulating renin level, Hypokalemia	OMIM:202010
Singleton-Merten Syndrome 1	Scoliosis, Waddling gait, Decreased body weight, Mitral valve calcification, Aortic valve stenosi...	OMIM:182250
Sarcoidosis, Susceptibility To, 1	Arthritis, Optic neuropathy, Inflammation of the large intestine, Pericardial effusion, Iridocycl...	OMIM:181000
Chronic Graft Versus Host Disease	Keratoconjunctivitis sicca, Abdominal pain, Arthritis, Pain, Arthralgia, Flexion contracture, Wei...	ORPHA:99921
Pseudoxanthoma Elasticum, Forme Fruste	Scoliosis, Mitral valve prolapse, Kyphosis	OMIM:177850
Pulmonary Alveolar Microlithiasis	Chest pain, Weight loss, Fatigue	ORPHA:60025
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating renin level, Hypokalemia	ORPHA:90793
Rabson-Mendenhall Syndrome	Increased C-peptide level, Hypokalemia	ORPHA:769
Vipoma	Chronic fatigue, Episodic abdominal pain, Weight loss	ORPHA:97282
Cole-Carpenter Syndrome	Scoliosis, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:2050
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Scoliosis, Kyphosis, Hearing impairment, Biconcave flattened vertebrae	OMIM:166220
Sarcoidosis	Heart block, Abnormal cardiac ventricular function, Facial palsy, Fatigue, Portal hypertension, W...	ORPHA:797
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Low-set ears, Kyphosis	OMIM:619244
Proteus Syndrome	Macrodactyly, Sirenomelia, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Finger...	ORPHA:744
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circulating creatini...	OMIM:619534
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula...	OMIM:241200
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia	OMIM:618426
Tsh-Secreting Pituitary Adenoma	Pericardial effusion, Tremor, Weight loss, Fatigue	ORPHA:91347
Anemia, Congenital Dyserythropoietic, Type Iv	Weight loss	OMIM:613673
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Sacral dimple, Spina bifida occulta, Abnormal pinna morphology, ...	OMIM:135900
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Scoliosis, Hyperlordosis, Kyphosis	OMIM:617821
Turner Syndrome Due To Structural X Chromosome Anomalies	Gastrointestinal inflammation, Bicuspid aortic valve, Recurrent otitis media, Depression, Thyroid...	ORPHA:99413
Mosaic Monosomy X	Gastrointestinal inflammation, Bicuspid aortic valve, Recurrent otitis media, Depression, Thyroid...	ORPHA:99228
Monosomy X	Gastrointestinal inflammation, Bicuspid aortic valve, Recurrent otitis media, Depression, Thyroid...	ORPHA:99226
Turner Syndrome	Gastrointestinal inflammation, Bicuspid aortic valve, Recurrent otitis media, Depression, Thyroid...	ORPHA:881
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Difficulty walking, Urinary incontinence, Scoliosis, Kyphosis, Aspiration pneumonia	OMIM:619482
Methylmalonic Aciduria, Cbla Type	Decreased methylmalonyl-CoA mutase activity	OMIM:251100
Neurofibromatosis Type 1	Rhabdomyosarcoma, Memory impairment, Scoliosis, Kyphosis, Hearing impairment, Ataxia, Attention d...	ORPHA:636
Distal Renal Tubular Acidosis	Aminoaciduria, Hypokalemia	ORPHA:18
Orofaciodigital Syndrome Iii	Low-set ears, Kyphosis	OMIM:258850
Primrose Syndrome	Superiorly displaced ears, Distal amyotrophy, Calcification of the auricular cartilage, Kyphosis,...	OMIM:259050
Ramon Syndrome	Scoliosis, Decreased body weight, Kyphosis, Hearing impairment, Juvenile rheumatoid arthritis, Op...	OMIM:266270
17Q11 Microdeletion Syndrome	Rhabdomyosarcoma, Beaking of vertebral bodies T12-L3, Dural ectasia, Abnormality of the vertebral...	ORPHA:97685
Mend Syndrome	Sacral dimple, Low-set ears, Kyphosis, Aortic valve stenosis, Failure to thrive, Posteriorly rota...	OMIM:300960
Juvenile Polyposis Of Infancy	Abdominal pain, Cachexia, Low-set ears, Abnormal heart morphology, Atrial septal defect	ORPHA:79076
Multiple Endocrine Neoplasia Type 1	Impairment of activities of daily living, Depression, Abdominal pain, Confusion, Short attention ...	ORPHA:652
Ppoma	Episodic abdominal pain, Weight loss	ORPHA:97278
Cleidocranial Dysplasia 1	Syringomyelia, Spondylolysis, Spondylolisthesis, Scoliosis, Kyphosis, Hearing impairment	OMIM:119600
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Vertebral compression fracture, Scoliosis, Kyphosis, Biconcave vertebral bodies, ...	OMIM:259770
Generalized Glucocorticoid Resistance Syndrome	Hypokalemia	ORPHA:786
Nelson Syndrome	Hypokalemia	ORPHA:199244
Cerebrocostomandibular Syndrome	Kyphosis, Spina bifida, Atresia of the external auditory canal, Conductive hearing impairment, Ve...	ORPHA:1393
Proximal Renal Tubular Acidosis	Bicarbonaturia, Aminoaciduria, Hypokalemia	ORPHA:47159
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Tetralogy of Fallot, Kyphosis, Conjunctivitis	OMIM:153400
Wrinkly Skin Syndrome	Muscular ventricular septal defect, Hypoplasia of the musculature, Scoliosis, Low-set ears, Scapu...	OMIM:278250
Familial Osteodysplasia, Anderson Type	Abnormal earlobe morphology, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Large ea...	ORPHA:2769
Cdags Syndrome	Sensorineural hearing impairment, Kyphosis	OMIM:603116
Viss Syndrome	Coronary sinus enlargement, Kyphosis, Mitral valve prolapse, Right ventricular dilatation, Butter...	OMIM:619472
Zollinger-Ellison Syndrome	Episodic abdominal pain, Weight loss	ORPHA:913
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Vertebral compression fracture, Scoliosis, Kyphosis	OMIM:610915
Grfoma	Episodic abdominal pain, Weight loss	ORPHA:97261
Sotos Syndrome	Chronic otitis media, Ankle flexion contracture, Aganglionic megacolon, Abnormal vertebral morpho...	ORPHA:821
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Sensorineural hearing impairment, Kyphosis	OMIM:609944
Lenz-Majewski Hyperostotic Dwarfism	Macrotia, Scoliosis, Facial palsy, Kyphosis	ORPHA:2658
Aspartylglucosaminuria	Beaking of vertebral bodies, Spondylolysis, Spondylolisthesis, Scoliosis, Kyphosis, Acne, Platysp...	OMIM:208400
Norrie Disease	Optic atrophy, Irritability, Protruding ear, Sensorineural hearing impairment, Abnormal helix mor...	ORPHA:649
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Scoliosis, Kyphosis	ORPHA:394
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Decreased methylmalonyl-CoA mutase activity	OMIM:277400
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Hearing impairment, Kyphosis, Eczematoid dermatitis	ORPHA:85199
Shprintzen Omphalocele Syndrome	Scoliosis, Lumbar hyperlordosis, Decreased body weight, Kyphosis	OMIM:182210
Coffin-Lowry Syndrome	Lumbar kyphosis, Sensorineural hearing impairment, Scoliosis, Decreased body weight, Kyphosis, He...	OMIM:303600
Lowe Oculocerebrorenal Syndrome	Scoliosis, Kyphosis, Camptodactyly of finger, Failure to thrive, Platyspondyly, Joint contracture...	OMIM:309000
Leprechaunism	Increased circulating renin level, Hypokalemia	ORPHA:508
Occipital Horn Syndrome	Scoliosis, Esophagitis, Kyphosis, Platyspondyly, Hepatitis	ORPHA:198
Alström Syndrome	Urinary incontinence, Kyphosis, Cognitive impairment, Recurrent sinusitis, Ataxia, Oligozoospermi...	ORPHA:64
Branchiooculofacial Syndrome	Sensorineural hearing impairment, Microtia, Hyperlordosis, Facial palsy, Hypoplastic superior hel...	OMIM:113620
Occipital Horn Syndrome	Platyspondyly, Orthostatic hypotension, Kyphosis	OMIM:304150
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Scoliosis, Kyphosis	OMIM:619718
Yunis-Varon Syndrome	Irritability, Severe failure to thrive, Small earlobe, Microtia, Sensorineural hearing impairment...	OMIM:216340
Spondyloepimetaphyseal Dysplasia, X-Linked	Waddling gait, Kyphosis, Anterior wedging of T12, Hypoplasia of the odontoid process, Platyspondy...	OMIM:300106
Vascular Ehlers-Danlos Syndrome	Hypokalemia	ORPHA:286

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 Chchd10

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Chchd10.

No publications found that use IMPC mice or data for Chchd10.

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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
Chchd10^em1(IMPC)H	Exon Deletion	Mice
Chchd10^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Chchd10^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Chchd10^em2(IMPC)H	Exon Deletion	Mice

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: Chchd10 MGI:2143558

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Chchd10 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data