Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

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
small testis	Chchd10^em1(IMPC)Mbp	HOM	Early adult	0.00
increased blood urea nitrogen level	Chchd10^em1(IMPC)H	HOM	Early adult	9.30×10^-15
increased circulating potassium level	Chchd10^em1(IMPC)H	HOM	Early adult	5.56×10^-12
abnormal testis morphology	Chchd10^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating creatinine level	Chchd10^em1(IMPC)H	HOM	Early adult	1.91×10^-38
increased circulating phosphate level	Chchd10^em1(IMPC)Mbp	HOM	Early adult	2.29×10^-05
increased grip strength	Chchd10^em1(IMPC)H	HOM	Early adult	4.12×10^-07

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

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

View images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

View images

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 (1329 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, Increased mitochondrial number, Ra...	ORPHA:457050
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Exercise intolerance, Facial palsy, Decreased activity of mitochondrial complex IV, Ragged-red mu...	OMIM:616209
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Frontotemporal dementia, Abnormal mitochondrial morpholog...	ORPHA:275872
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Gastrocnemius myalgia, Tremor, Inability to walk, Ragged...	ORPHA:276435
Spinal Muscular Atrophy, Jokela Type	Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Distal sensory impairment, Calf muscle ...	OMIM:615048
Amyotrophic Lateral Sclerosis	Fatigue, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Motor neuron atrophy, Depression...	ORPHA:803
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Amyotrophic lateral sclerosis, Ataxia, Frontotemporal dementia, Sensorineural hearing impairment,...	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
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Decreased circulating parathyroid hormone...	OMIM:618883
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphos...	OMIM:203330
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Testes, Rudimentary	Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia	OMIM:273150
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Spinal Muscular Atrophy, Type Iv	Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centr...	OMIM:271150
Spastic Paraplegia Type 7	Optic disc pallor, Somatic sensory dysfunction, Ragged-red muscle fibers, Optic atrophy, Abnormal...	ORPHA:99013
Dna2-Related Mitochondrial Dna Deletion Syndrome	Multiple joint contractures, Decreased mitochondrial number, Hyperlordosis, Limb-girdle muscle we...	ORPHA:352470
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Exercise intolerance, Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ra...	ORPHA:457050
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Mitochondrial Myopathy With Diabetes	Exercise intolerance, Ataxia, Facial palsy, Ragged-red muscle fibers, Decreased activity of mitoc...	OMIM:500002
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenit...	ORPHA:2239
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism, Unilateral cryptorchidism	OMIM:219050
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Central...	OMIM:254110
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Centrally nucleated skeletal muscle fibers, Mitochondrial hypertrophy, Sensorineural hearing impa...	OMIM:619518
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Waddling gait, Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal m...	OMIM:617760
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Exercise intolerance, Facial palsy, Decreased activity of mitochondrial complex IV, Ragged-red mu...	OMIM:616209
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske...	OMIM:618129
Tuberculosis	Fatigue, Weight loss	ORPHA:3389
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Waddling gait, Lumbar hyperlordosis, Centrally nucleated skeletal muscle fibers, Abdominal pain, ...	ORPHA:86812
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Low back pain, Centrally nucleated ske...	OMIM:619733
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Waddling gait, Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal musc...	OMIM:608358
Isochromosomy Yp	Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test...	ORPHA:98797
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Increas...	OMIM:611705
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne...	OMIM:615424
Myasthenic Syndrome, Congenital, 14	Waddling gait, Scapular winging, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Limb-...	OMIM:616228
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Waddling gait, Somatic sensory dysfunction, Spinal muscular atrophy, Type 2 muscle fiber predomin...	OMIM:158600
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Frontotemporal dementia, Abnormal mitochondrial morpholog...	ORPHA:275872
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Hearing impairment, Centrally nucleate...	OMIM:301075
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphos...	OMIM:603233
Polyglucosan Body Myopathy 2	Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we...	OMIM:616199
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ...	ORPHA:399805
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology, Waddling gait, Spinal muscular atrophy, Hyperlordosis, Sc...	OMIM:611067
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen	OMIM:620085
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Distal lower limb amyotrophy, Impaired vibratory sensation, Thenar muscle atrophy, Mitochondrial ...	OMIM:500013
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Dystonia, Abnormal anterior horn cell morphology, Short neck, Paucity of...	OMIM:611890
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalce...	OMIM:146200
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Cryptorchi...	OMIM:618484
King-Denborough Syndrome	Lumbar hyperlordosis, Ventricular septal defect, Kyphoscoliosis, Centrally nucleated skeletal mus...	OMIM:619542
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Myofibrillar Myopathy 11	Fatigue, Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hy...	OMIM:619178
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe...	OMIM:614840
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Ataxia, Centrally nucleated skeletal muscle fibers, Chorea, Optic atrophy, Cardio...	ORPHA:401768
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Combined Oxidative Phosphorylation Deficiency 38	Decreased activity of mitochondrial ATP synthase complex, Posteriorly rotated ears, Decreased act...	OMIM:618378
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I...	OMIM:117000
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Spinal rigidit...	OMIM:608423
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated...	OMIM:616852
Congenital Myopathy 3 With Rigid Spine	Failure to thrive, Decreased body weight, Facial palsy, Centrally nucleated skeletal muscle fiber...	OMIM:602771
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Inability t...	OMIM:617066
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Thoracic scoliosis, Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scap...	OMIM:255160
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Lumbar hyperlordosis, Facial palsy, Le...	OMIM:160500
Nonaka Myopathy	Distal amyotrophy, Gait disturbance, EMG: myopathic abnormalities, Distal lower limb muscle weakn...	OMIM:605820
Hsd10 Mitochondrial Disease	Progressive neurologic deterioration, Sensorineural hearing impairment, Optic atrophy, Abnormal m...	OMIM:300438
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Hand muscle atrophy, Abnormal lower motor neuron morphology, Hand muscle weakness, Distal amyotro...	OMIM:607641
Nemaline Myopathy 2	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co...	OMIM:256030
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Gastrocnemius myalgia, Tremor, Inability to walk, Ragged...	ORPHA:276435
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Decreased activity of mitochondrial ATP synthase complex, Loss of ability to walk in early childh...	OMIM:609560
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Fiber type grouping, Distal sensory impairment, Distal amyotrophy, Hearing impairment	OMIM:614369
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus...	OMIM:620286
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai...	OMIM:607459
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Skeletal muscle atrophy, Spastic gait, Gait imbalance	ORPHA:247604
Myopathy, Centronuclear, 2	Waddling gait, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Hyperl...	OMIM:255200
Isochromosomy Yq	Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc...	ORPHA:98798
Barth Syndrome	Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis	ORPHA:111
Mantle Cell Lymphoma	Fatigue, Weight loss	ORPHA:52416
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Back pain, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy...	OMIM:167320
Spastic Paraplegia 18B, Autosomal Recessive	Skeletal muscle atrophy, Kyphosis, Inability to walk, Gait disturbance, Scoliosis, Joint contract...	OMIM:611225
Sandhoff Disease, Adult Form	Tremor, Mental deterioration, Gait ataxia, Upper limb muscle weakness, Proximal muscle weakness i...	ORPHA:309169
Rhabdomyolysis, Susceptibility To, 1	Exercise intolerance, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Type 2 muscle f...	OMIM:620235
Inclusion Body Myositis	Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red...	ORPHA:611
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,...	OMIM:618823
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle...	OMIM:618655
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Amyotrophic lateral sclerosis, Hyperlordosis, Fatty replacement of skeletal muscle...	ORPHA:52430
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Impaired temperature sensation, Impai...	OMIM:619574
Precocious Puberty, Male-Limited	Decreased testicular size, Precocious puberty in males	OMIM:176410
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Pseudohypoparathyroidism Type 2	Calcinosis, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphosph...	ORPHA:94090
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Cryptor...	ORPHA:486815
Combined Oxidative Phosphorylation Deficiency 49	Exercise intolerance, Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, D...	OMIM:619024
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Cardiomyopathy...	ORPHA:603
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea...	OMIM:620310
Welander Distal Myopathy	Distal amyotrophy, Steppage gait, Rimmed vacuoles	OMIM:604454
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Kyphosis, Optic atrophy, Upper limb amyotrophy, Distal sensory impairment, Sco...	OMIM:617087
X-Linked Charcot-Marie-Tooth Disease Type 1	Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Tremor, Kyphosis, Distal upper lim...	ORPHA:101075
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H...	ORPHA:178464
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Waddling gait, High-frequency sensorineural hearing impai...	ORPHA:2590
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet...	OMIM:606070
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Ataxia, Inability to walk, Ragged-red muscle fibers, Decreased activity of mitochondrial complex ...	OMIM:615159
Congenital Myopathy 4A, Autosomal Dominant	Lumbar hyperlordosis, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle f...	OMIM:255310
Congenital Myopathy 22A, Classic	Fatigue, Hip contracture, Scapular winging, Thoracic scoliosis, Waddling gait, Centrally nucleate...	OMIM:620351
46,Xx Testicular Difference Of Sex Development	Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:393
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Ataxia, Centrally nucleated skeletal muscle fibers, Kyphosis, Flexion co...	OMIM:248800
Pulmonary Blastoma	Chest pain, Weight loss	ORPHA:64741
Muscular Dystrophy, Congenital, Megaconial Type	Waddling gait, Facial palsy, Mitochondrial hypertrophy, Dilated cardiomyopathy, Myopathy, Muscula...	OMIM:602541
Congenital Myopathy 18	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Scoliosis, Incr...	OMIM:620246
Hypocalcemia, Autosomal Dominant 1	Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, Increased circul...	OMIM:601198
Myopathy, Distal, Tateyama Type	Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ...	OMIM:614321
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired temperature sen...	DECIPHER:29
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu...	OMIM:601846
Spinal Muscular Atrophy, Segmental	Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy	OMIM:183020
Exercise Intolerance, Riboflavin-Responsive	Exercise intolerance, Ragged-red muscle fibers	OMIM:616839
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decreased motor nerve cond...	OMIM:620068
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ataxia, Cachexia, Abdominal pain, Decreased activity of mitochondrial complex IV, Ragged-red musc...	OMIM:613662
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Flexion contracture, Optic atrophy, Myopathy, Irritability, Dystonia, Decreased activit...	OMIM:618237
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Impaired prop...	ORPHA:95434
Myopathy, Centronuclear, 4	Exercise intolerance, Myalgia, Type 1 muscle fiber predominance, Centrally nucleated skeletal mus...	OMIM:614807
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Di...	OMIM:608099
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari...	OMIM:255320
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Card...	OMIM:612999
Undifferentiated Pleomorphic Sarcoma	Fatigue, Weight loss	ORPHA:2023
X-Linked Centronuclear Myopathy	Pneumonia, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Inability ...	ORPHA:596
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Autosomal Recessive Centronuclear Myopathy	Waddling gait, Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, ...	ORPHA:169186
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu...	ORPHA:59135
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Fatty replacement of skeletal muscle, Decreased nerve conduction velocity, Tremor, Myopathy, Arth...	ORPHA:397744
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Proximal muscle weakness in uppe...	OMIM:613954
Blue Diaper Syndrome	Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr...	ORPHA:94086
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Exercise intolerance, Neuropathic spinal arthropathy, Decreased mitochondrial number, Spinal rigi...	ORPHA:352447
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal...	ORPHA:1145
X-Linked Charcot-Marie-Tooth Disease Type 4	Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Ky...	ORPHA:101078
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Urinary incontinence, Centrally nucleated skeletal muscl...	ORPHA:169189
Merrf	Ataxia, Sensorineural hearing impairment, Ragged-red muscle fibers, Optic atrophy, Myopathy, Cogn...	ORPHA:551
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Nemaline Myopathy 5C, Autosomal Dominant	Waddling gait, Skeletal muscle atrophy, Scapular winging, Slender build, Hyperlordosis, Quadricep...	OMIM:620389
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Exercise intolerance, Dystonia, Ataxia, Ragged-red muscle fibers, Flexion contracture, Optic atro...	OMIM:252011
Combined Oxidative Phosphorylation Deficiency 6	Skeletal muscle atrophy, Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers...	OMIM:300816
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Exercise intolerance, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-g...	OMIM:616812
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ...	OMIM:618848
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Skeletal muscle atrophy, Dystonia, Oculogyric crisis, Tremor, Inability to walk, Optic atrophy, A...	ORPHA:330050
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Frontotemporal dem...	OMIM:615422
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Fatigue, Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Aspiration p...	OMIM:619477
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho...	ORPHA:399808
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Myopathy, Myofibrillar, 5	Waddling gait, Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber s...	OMIM:609524
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Amyotrophic Lateral Sclerosis 2, Juvenile	Hand muscle atrophy, Skeletal muscle atrophy, Urinary incontinence, Opisthotonus, Spasticity of f...	OMIM:205100
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Barth Syndrome	Fatigue, Exercise intolerance, Macrotia, Dilated cardiomyopathy, Abnormal mitochondrial morpholog...	OMIM:302060
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Myasthenic Syndrome, Congenital, 17	Difficulty walking, Type 1 muscle fiber predominance	OMIM:616304
Muscle Filaminopathy	Back pain, Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory mus...	ORPHA:171445
Muscular Dystrophy, Limb-Girdle, Type 1H	Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ...	OMIM:613530
Combined Oxidative Phosphorylation Deficiency 18	Skeletal muscle atrophy, Increased mitochondrial number, Tremor, Dysmetria, Decreased activity of...	OMIM:615578
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Ataxia, Failure to thrive in infancy, Decreased activity of mitochondrial complex IV, Increased i...	OMIM:619065
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Elevate...	OMIM:612462
Congenital Myopathy 23	Waddling gait, Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Fa...	OMIM:609285
Myopathy, X-Linked, With Postural Muscle Atrophy	Back pain, Skeletal muscle atrophy, Scapular winging, Short neck, Spinal rigidity, Achilles tendo...	OMIM:300696
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Short neck, Spinal rigidity, Kyphosis, Hyperlordosis, Flexion contracture, Dilated cardiomyopathy...	OMIM:300718
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Waddling gait, Hip contracture, Scapular winging, Broad-based gait, Spinal muscular atrophy, Hype...	OMIM:615290
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Spinal Muscular Atrophy, Type Iii	Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cel...	OMIM:253400
Autosomal Recessive Progressive External Ophthalmoplegia	Exercise intolerance, Scapular winging, Ataxia, Facial palsy, Hearing impairment, Hand muscle wea...	ORPHA:254886
Kennedy Disease	Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ...	ORPHA:481
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P...	OMIM:601954
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ...	OMIM:241410
Pseudopseudohypoparathyroidism	Abnormality of the endocrine system, Hypocalcemia, Elevated circulating parathyroid hormone level...	ORPHA:79445
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Inability to walk, S...	ORPHA:266
Combined Oxidative Phosphorylation Deficiency 28	Fatigue, Abdominal pain, Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers...	OMIM:616794
Mitochondrial Complex I Deficiency, Nuclear Type 21	Ataxia, Ragged-red muscle fibers, Myopathy, Difficulty walking, Decreased activity of mitochondri...	OMIM:618242
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Parathyroid hyperplasia, Elevated circulating parathyroid hormone level, Hypercalcemia, Hyperphos...	OMIM:617994
Roussy-Lévy Syndrome	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Impaired vibratory sensation,...	ORPHA:3115
Distal Myopathy With Anterior Tibial Onset	Absent muscle fiber dysferlin, Somatic sensory dysfunction, Tibialis muscle weakness, Limb-girdle...	ORPHA:178400
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat...	OMIM:181400
Adult-Onset Distal Myopathy Due To Vcp Mutation	Back pain, Urinary incontinence, Progressive neurologic deterioration, Fatty replacement of skele...	ORPHA:329478
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, S...	OMIM:617072
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers	OMIM:618992
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Gait ataxia, S...	OMIM:258450
Myopathy, Myofibrillar, 8	Scapular winging, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Achilles tendon co...	OMIM:617258
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Spinal rigidity, Limb-gird...	OMIM:620386
Charcot-Marie-Tooth Disease Type 1A	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Shoulder pain, Kyphoscoliosis...	ORPHA:101081
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Hyperlordosis, Intrinsic ha...	OMIM:620285
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia	OMIM:141000
Myopathy, Myofibrillar, 3	Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Myalgia, Muscle fiber cytoplasmat...	OMIM:609200
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower...	OMIM:617030
Spinocerebellar Ataxia 28	Somatic sensory dysfunction, Ragged-red muscle fibers, Limb ataxia, Gait ataxia, Lower limb hyper...	OMIM:610246
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a...	OMIM:600175
Dystonia-Aphonia Syndrome	Abnormal mitochondrial shape, Generalized dystonia, Unsteady gait, Macroglossia, Gait disturbance...	ORPHA:412217
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Waddling gait, Facial palsy, Decreased compound muscle action potential amplitude, Flexion contra...	OMIM:603511
Autoimmune Hypoparathyroidism	Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic...	ORPHA:36913
Calciphylaxis	Hyperphosphatemia, Secondary hyperparathyroidism	ORPHA:280062
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology, Spastic gait	OMIM:611637
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d...	OMIM:609115
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Spinal rigidity, Proxi...	ORPHA:598
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Urinary incontinence, Chorea, Upper-limb joint contracture, Opisthotonus...	ORPHA:300605
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Distal sensory impairment, C...	ORPHA:399086
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Exercise intolerance, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdo...	OMIM:620138
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Hyperlordosis, Flexion contrac...	OMIM:253700
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Angulated muscle fibers, Distal sensory impairment, Upper limb muscle weakness, Distal amyotrophy...	OMIM:608340
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Kyphosis, Optic atrophy, Skeletal muscle hypertrophy, Ga...	ORPHA:99014
Mitochondrial Dna Depletion Syndrome 11	Exercise intolerance, Neuropathic spinal arthropathy, Facial palsy, Spinal rigidity, Kyphosis, Ra...	OMIM:615084
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Sensorineural hearing impairment, In...	OMIM:619473
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Fatigue, Skeletal muscle atrophy, Muscular dystrophy, Loss of ambulation, Increased variability i...	OMIM:253601
Combined Oxidative Phosphorylation Defect Type 27	Upper limb postural tremor, Decreased activity of mitochondrial complex IV, Ragged-red muscle fib...	ORPHA:477774
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Spinal rigidity, Flexion contracture, Scoliosis, Loss of ambulation, Increased variability in mus...	OMIM:300717
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, S...	OMIM:619566
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib...	ORPHA:52901
Pseudohypoaldosteronism, Type Iia	Hyperkalemia	OMIM:145260
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Skeletal muscle atrophy, Ataxia, Inability to walk, Type 1 muscle fiber predominance, Dystonia, F...	OMIM:618276
Huntington Disease-Like 2	Chorea, Weight loss, Dementia, Gait disturbance, Dystonia, Memory impairment	ORPHA:98934
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
Pseudohypoparathyroidism, Type Ia	Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hypogonadism, Hyperphos...	OMIM:103580
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea	OMIM:614858
Spastic Paraplegia 46, Autosomal Recessive	Impaired vibratory sensation, Urinary incontinence, Kyphosis, Impaired vibration sensation in the...	OMIM:614409
Zebra Body Myopathy	Waddling gait, Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle...	ORPHA:97240
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Broad-based...	ORPHA:353
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Wa...	ORPHA:98855
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Exercise intolerance, Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, D...	OMIM:613561
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Idiopathic Achalasia	Chest pain, Weight loss	ORPHA:930
Primary Lateral Sclerosis, Juvenile	Decreased compound muscle action potential amplitude, Spasticity of facial muscles, Abnormal uppe...	OMIM:606353
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Abnormal muscle fiber morphology, Short neck, Kyphosis, Spinal rigidity, Flexion con...	ORPHA:75840
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Impaired vibratory sensation, Waddling gait, Somatic sensory dysfunction, Ragged-red muscle fiber...	OMIM:616924
Sanjad-Sakati Syndrome	Hypoparathyroidism, Hypoplasia of penis, Cryptorchidism, Hyperphosphatemia, Hypocalcemia, Congeni...	ORPHA:2323
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Waddling gait, Dilated cardiomyopathy, Unsteady gait, Myopathy, Limb-girdle muscular dystrophy, I...	OMIM:612937
Oculopharyngodistal Myopathy	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis...	ORPHA:98897
Childhood-Onset Nemaline Myopathy	Exercise intolerance, Waddling gait, Scapular winging, Spinal rigidity, Flexion contracture, Incr...	ORPHA:171439
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Boucher-Neuhauser Syndrome	Ataxia, Gait ataxia, Distal amyotrophy, Abnormal upper motor neuron morphology, Intention tremor	OMIM:215470
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Ataxia, Eczema, Kyphosis, Attention deficit hyperactivity disorder, Facial myokymia, Failure to t...	OMIM:620007
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, Inability to walk, Senso...	OMIM:616756
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Lumbar hyperlordosis, Distal amyotrophy, Type 1 muscle fiber predominance, Scoli...	OMIM:619042
Benign Samaritan Congenital Myopathy	Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers	ORPHA:324581
Myopathy, Centronuclear, 5	Hip contracture, Weakness of facial musculature, Dilated cardiomyopathy, Centrally nucleated skel...	OMIM:615959
Congenital Myopathy With Myasthenic-Like Onset	Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Gait disturbance, Type 1...	ORPHA:424107
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Short neck, Decreased cervical spine flexion due to contractures of posterior cervical...	ORPHA:98863
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Urinary incontinence, Dist...	OMIM:602099
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Thoracic scoliosis, Lumbar hyperlordosis, Quadriceps muscle weakness, Inability to walk, Dilated ...	ORPHA:206546
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Vertebral fusion, Facial palsy, Elbow contracture, Hyperlordosis, Kyphos...	OMIM:606612
Emery-Dreifuss Muscular Dystrophy	Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Wa...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Wa...	ORPHA:98853
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Cardiomegaly, Increased variability in muscle fiber ...	OMIM:618654
Adiposis Dolorosa	Fatigue, Arthralgia, Chronic pain, Obesity	OMIM:103200
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Myopathy, Sensorineural hearing impairment, Ragged-red muscle fibers, Ataxia	OMIM:545000
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Combined Oxidative Phosphorylation Defect Type 13	Hip contracture, Failure to thrive, Ankle flexion contracture, Decreased nerve conduction velocit...	ORPHA:319514
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Hyperlordosis, Spinal rigidity, Kyphosis, Proximal amyotrophy, Tip-toe gait, Gait disturbance, Sc...	OMIM:617404
Congenital Myopathy 6 With Ophthalmoplegia	Waddling gait, Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture,...	OMIM:605637
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari...	OMIM:617519
Bethlem Myopathy 2	Scapular winging, Kyphosis, Flexion contracture, Myopathy, Scoliosis, Increased variability in mu...	OMIM:616471
Congenital Myopathy 2A, Typical, Autosomal Dominant	Waddling gait, Facial palsy, Hyperlordosis, Spinal rigidity, Dilated cardiomyopathy, Limb muscle ...	OMIM:161800
Chronic Hiccup	Recurrent singultus, Weight loss	ORPHA:396
Miyoshi Muscular Dystrophy 1	Distal amyotrophy, Tip-toe gait, Muscular dystrophy, Lower limb muscle weakness, Deposits immunor...	OMIM:254130
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	Exercise intolerance, Facial palsy, Sensorineural hearing impairment, Ragged-red muscle fibers, E...	OMIM:609283
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Kyphosis, Decreased compound muscle action potential amplitude, Flexion contract...	OMIM:618323
Mosaic Variegated Aneuploidy Syndrome 4	Abnormality of chromosome stability	OMIM:620153
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Decreased activity of mitochondrial complex IV	OMIM:619063
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Short attention span, Abnormal mitochondrial shape, Sensorineural hearin...	ORPHA:17
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Increased mito...	ORPHA:263297
Congenital Myasthenic Syndromes With Glycosylation Defect	Waddling gait, Scapular winging, Lumbar hyperlordosis, Facial palsy, Generalized weakness of limb...	ORPHA:353327
Oculopharyngeal Muscular Dystrophy	Abnormal muscle fiber morphology, Ragged-red muscle fibers, Myopathy, Rimmed vacuoles, Spondyloli...	ORPHA:270
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe...	OMIM:618138
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Vitamin D-Dependent Rickets, Type 3	Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia	OMIM:619073
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Thenar muscle atrophy, Dilated cardiomyopathy, Dysmetria, Dysdiadochokinesis, Distal lower limb m...	OMIM:619903
Distal Myotilinopathy	Multiple joint contractures, Loss of ability to walk in first decade, Cardiomyopathy, Distal amyo...	ORPHA:98911
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Ataxia, Rhabdomyolysis, Ragged-red muscle fibers, Choreoathetosis, Exercise-induced myalgia, Scol...	OMIM:618416
Laryngeal Neuroendocrine Tumor	Chronic fatigue, Weight loss	ORPHA:100083
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Fatigue, Exercise intolerance, Ataxia, Sensorineural hearing impairment, Ragged-red muscle fibers...	ORPHA:1349
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F...	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F...	OMIM:616437
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F...	OMIM:105550
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology, Achilles tendon contracture, Urinary incontinence, Scoliosis	OMIM:607225
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Urinary incontinenc...	OMIM:617114
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Short attention span, Motor neuron atrophy, Frontotemporal dementia, Dementia, Falls, Spinocerebe...	ORPHA:412066
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration	OMIM:313200
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Decreased muscle mass, Cachexia, Abdominal pain, Senso...	ORPHA:298
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Exercise intolerance, Skeletal muscle atrophy, Broad-based gait, Ataxia, Ragged-red muscle fibers...	OMIM:616479
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Progressive neurologic deterioration, Cachexia, Decreased activity of mitochondrial complex IV, W...	OMIM:612075
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Congenital muscular dystrophy, Decreased testicular size, Gait disturbance	ORPHA:1875
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Spinocerebellar Ataxia 48	Ataxia, Urinary incontinence, Cachexia, Tremor, Chorea, Dysmetria, Depression, Gait ataxia, Irrit...	OMIM:618093
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology, Motor conduction block	DECIPHER:31
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Scoliosis, Increased ...	OMIM:613204
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial...	OMIM:614096
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Cachexia, Spinal rigidity, Hyperlordosis, Flexion contracture, Myopathy,...	ORPHA:157973
46,Xy Complete Gonadal Dysgenesis	Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Fatigue, Skeletal muscle atrophy, Exercise intolerance, Achilles tendon contracture, Ragged-red m...	OMIM:615418
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Scapular winging, Generalized dystonia, Ataxia, Tremor, O...	OMIM:614298
Autosomal Recessive Spastic Paraplegia Type 53	Impaired vibratory sensation, Kyphosis, Impaired proprioception, Upper limb hypertonia, Limb dyst...	ORPHA:319199
Polyglucosan Body Neuropathy, Adult Form	Orthostatic hypotension, Urinary incontinence, Distal sensory impairment, Gait disturbance, Pares...	OMIM:263570
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati...	OMIM:620103
Pseudohypoaldosteronism Type 2	Hyperkalemia	ORPHA:757
Mitochondrial Complex I Deficiency, Nuclear Type 29	Fatigue, Exercise intolerance, Failure to thrive, Abnormal heart morphology, Exercise-induced mya...	OMIM:618250
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:610600
Sandhoff Disease	Ataxia, Kyphosis, Progressive psychomotor deterioration, Motor deterioration, Failure to thrive, ...	ORPHA:796
Inclusion Body Myositis	Inflammatory myopathy, Rimmed vacuoles	OMIM:147421
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Myopathy, Scoliosis, Decreased activity of mitochondrial complex I, Hypertrophic cardio...	OMIM:618234
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Kyphosis, Sensorineural hearing impairment, Cognitive impairment, Scoliosis	ORPHA:2744
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Urinary incontinence, Euphoria, Frontal lobe dementia, Dementia, Gait disturbance, Abnormal upper...	OMIM:221770
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Myasthenic Syndrome, Congenital, 12	Waddling gait, Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy	OMIM:610542
Juvenile Huntington Disease	Broad-based gait, Ataxia, Chorea, Depression, Weight loss, Irritability, Gait ataxia, Dementia, P...	ORPHA:248111
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr...	ORPHA:254864
Pseudohypoparathyroidism Type 1B	Calcinosis, Decreased response to growth hormone stimulation test, Pseudohypoparathyroidism, Elev...	ORPHA:94089
Congenital Myopathy 10A, Severe Variant	Facial palsy, Camptodactyly of finger, Abnormal motor nerve conduction velocity, Increased variab...	OMIM:614399
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont...	ORPHA:536516
Huntington Disease-Like 2	Chorea, Subcortical dementia, Depression, Weight loss, Irritability, Dementia, Dystonia, Memory i...	OMIM:606438
Lipodystrophy, Congenital Generalized, Type 4	Exercise intolerance, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Spinal rigidity,...	OMIM:613327
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:203400
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia	OMIM:240200
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles	OMIM:609500
Liposarcoma	Fatigue, Abdominal pain, Weight loss	ORPHA:69078
Amyotrophic Lateral Sclerosis 16, Juvenile	Loss of ambulation, Amyotrophic lateral sclerosis, Lower limb muscle weakness, Weakness of the in...	OMIM:614373
Vocal Cord And Pharyngeal Distal Myopathy	Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con...	ORPHA:600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Fatigue, Weight loss	ORPHA:86893
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Noncompaction cardiomyopathy, Ataxia, Progressive psychomotor deteriorat...	ORPHA:3208
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Ataxia, Progressive intervertebral space narrowing, Ragged-red muscle fi...	ORPHA:480
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Skeletal muscle atrophy, Sensorineural hearing impairment, Rhabdomyolysis, Ragged-red muscle fibe...	OMIM:617070
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Cryptorchidism, Kyphosis, Flexion contracture, Scoliosis, Low-set ears, Arthrogryposi...	ORPHA:178148
Spermatogenic Failure 28	Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El...	OMIM:618086
Amyotrophic Lateral Sclerosis 8	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Postural tremor, Proximal amyotrophy, Dis...	OMIM:608627
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia	OMIM:613845
Adult-Onset Nemaline Myopathy	Flexion contracture, Increased muscle lipid content, Dilated cardiomyopathy, Upper limb muscle we...	ORPHA:171442
Striatonigral Degeneration, Infantile, Mitochondrial	Chorea, Ragged-red muscle fibers, Paroxysmal choreoathetosis, Difficulty walking, Lingual dystonia	OMIM:500003
Myopathy, Distal, 3	Distal amyotrophy, Steppage gait, Muscular dystrophy, EMG: myopathic abnormalities, Joint contrac...	OMIM:610099
Oculopharyngodistal Myopathy 2	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of...	OMIM:618940
Parastremmatic Dwarfism	Kyphosis, Flexion contracture, Scoliosis, Short neck	OMIM:168400
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o...	OMIM:602433
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Acrodysostosis 1 With Or Without Hormone Resistance	Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Irregular menstru...	OMIM:101800
Cap Myopathy	Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphology, Lower l...	ORPHA:171881
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Hyperlordosis, Fatty replacement of skeletal muscle, Achilles tendon contractu...	OMIM:620249
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, Posteriorly rotated ears, Short neck, Cryptorchidism, Kyphosis, Low-set ...	OMIM:618393
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Bethlem Myopathy	Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ...	ORPHA:610
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Steppage gait, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Spastic Paraplegia 9A, Autosomal Dominant	Impaired vibratory sensation, Resting tremor, Urinary incontinence, Gait ataxia, Gait disturbance...	OMIM:601162
Coenzyme Q10 Deficiency, Primary, 9	Short attention span, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Type 2 muscle fiber predom...	OMIM:619028
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter, Failure to thrive, Mitochondrial swelling	OMIM:615595
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Waddling gait, Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Increased var...	ORPHA:1878
Ataxia-Oculomotor Apraxia Type 4	Short attention span, Somatic sensory dysfunction, Progressive distal muscular atrophy, Ataxia, K...	ORPHA:459033
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Ataxia, Impaired pain sensation, Kyphosis, Unsteady gait, Obesity, Distal sensory impairment, Sco...	OMIM:618124
Spastic Paraplegia 53, Autosomal Recessive	Impaired vibratory sensation, Kyphosis, Lower limb hypertonia, Gait disturbance, Upper limb hyper...	OMIM:614898
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Spinal rigidity, Kyphosis, ...	OMIM:254090
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Lethal Congenital Contracture Syndrome 5	Small for gestational age, Centrally nucleated skeletal muscle fibers, Decreased nerve conduction...	OMIM:615368
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T...	OMIM:616313
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Waddling gait, Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dilated ca...	OMIM:607155
Hyperaldosteronism, Familial, Type Ii	Hypokalemia	OMIM:605635
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test...	ORPHA:79444
Riboflavin Transporter Deficiency	Skeletal muscle atrophy, Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Progressive h...	ORPHA:97229
Pfapa Syndrome	Fatigue, Abdominal pain, Arthralgia, Weight loss	ORPHA:42642
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Autosomal Dominant Kenny-Caffey Syndrome	Abnormal circulating follicle-stimulating hormone concentration, Hyperphosphatemia, Hypocalcemic ...	ORPHA:93325
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Camptodactyly of finger, Acute rhabdomyolysis, Kyphosis, Dysmetria, Paresthesia, Scoliosi...	ORPHA:48431
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperphosphatemia	OMIM:211900
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Fatigue, Exercise intolerance, Ragged-red muscle fibers, Limb muscle weakness, Depression, Sensor...	OMIM:609286
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Dystonia, Ataxia, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking o...	OMIM:230650
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration	OMIM:615605
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Myopathy, Hypertrophic cardiomyopathy, Failure to thrive, Abnormality of the mitochondrion	ORPHA:91130
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Gait disturbance, Proximal amyotrophy	OMIM:608030
Myotubular Myopathy With Abnormal Genital Development	Bilateral cryptorchidism, Myopathy, Unilateral cryptorchidism, Centrally nucleated skeletal muscl...	OMIM:300219
Mitochondrial Myopathy, Infantile, Transient	Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen...	OMIM:500009
Mast Cell Sarcoma	Fatigue, Weight loss	ORPHA:66661
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia	OMIM:127000
Follicular Lymphoma	Fatigue, Night sweats, Weight loss	ORPHA:545
Central Core Disease	Multiple joint contractures, Kyphoscoliosis, Mitral valve prolapse, Myopathy, Type 1 muscle fiber...	ORPHA:597
Myopathy, Myofibrillar, 2	Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati...	OMIM:608810
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Cardiomyopathy, Type...	ORPHA:171433
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Abnormality of the musculature of the lower limbs, Ataxia, Urinary incontinence, D...	ORPHA:464282
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:177735
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ...	OMIM:603689
Autism Spectrum Disorder Due To Auts2 Deficiency	Small for gestational age, Eczema, Cryptorchidism, Kyphosis, Abnormal heart morphology, Congenita...	ORPHA:352490
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Fatigue, Hyperlordosis, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy,...	OMIM:613157
Lethal Congenital Contracture Syndrome 1	Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, A...	OMIM:253310
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis, Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles	OMIM:615426
Gm1 Gangliosidosis	Tremor, Abnormal form of the vertebral bodies, Arthralgia, Aspiration pneumonia, Infectious encep...	ORPHA:354
Amyotrophic Lateral Sclerosis 11	Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Soma...	OMIM:612577
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Waddling gait, Posteriorly rotated ears, Small for gestational age, Kyphosis, Decreased body weig...	OMIM:618392
Myopathy With Lactic Acidosis, Hereditary	Exercise intolerance, Skeletal muscle atrophy, Abnormal iron deposition in mitochondria, Rhabdomy...	OMIM:255125
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature	OMIM:617069
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia	OMIM:264350
Flynn-Aird Syndrome	Skeletal muscle atrophy, Ataxia, Cachexia, Impaired pain sensation, Kyphosis, Dementia, Scoliosis...	ORPHA:2047
Familial Isolated Hyperparathyroidism	Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone level, Hypop...	ORPHA:99879
Dpm3-Cdg	Dilated cardiomyopathy, Calf muscle hypertrophy, Chest pain, Muscular dystrophy, Pelvic girdle mu...	ORPHA:263494
Congenital Myopathy 24	Waddling gait, Scapular winging, Facial palsy, Cardiomyopathy, Type 1 muscle fiber predominance, ...	OMIM:617336
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Ataxia, Bowel incontinence, Truncal titubation, Kyphosis, Abnormal spinal cord mor...	ORPHA:88628
Huntington Disease	Bradyphrenia, Dystonia, Inability to walk, Chorea, Depression, Weight loss, Irritability, Gait di...	ORPHA:399
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Fatigue, Skeletal muscle atrophy, Ataxia, Cachexia, Cardiomegaly, Myopathy, Decreased plasma tota...	ORPHA:42
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe...	OMIM:300580
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Premature Ovarian Failure 10	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612885
Typical Nemaline Myopathy	Waddling gait, Facial palsy, Short neck, Hyperlordosis, Limb-girdle muscle weakness, Kyphosis, Fl...	ORPHA:171436
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:556037
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Abnormal mitochondrial shape, Ataxia, Optic atrophy, Gait ataxia, Failure to thrive	ORPHA:543470
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Generalized dystonia, Facial palsy, Writer's cramp, Hyp...	OMIM:128100
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Machado-Joseph Disease Type 3	Distal lower limb amyotrophy, Skeletal muscle atrophy, Abnormal lower motor neuron morphology, De...	ORPHA:276244
Spinal Muscular Atrophy, Jokela Type	Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Distal sensory impairment, Calf muscle ...	OMIM:615048
Hereditary Continuous Muscle Fiber Activity	Ataxia, Spastic gait, Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Mcdonough Syndrome	Low-set, posteriorly rotated ears, Cachexia, Cryptorchidism, Kyphosis, Aplasia/Hypoplasia of the ...	ORPHA:2471
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Waddling gait, Hyperlordosis, Chorea, Right ventricular dilatation, Myopathy, Limb-girdle muscula...	ORPHA:369840
Preeclampsia	Elevated circulating creatinine concentration	ORPHA:275555
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Depression	ORPHA:663
Inflammatory Bowel Disease 11	Abdominal pain, Weight loss	OMIM:191390
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Exercise intolerance, Skeletal muscle atrophy, Resting tremor, Facial palsy, Impaired distal prop...	OMIM:157640
Pseudohypoparathyroidism Type 1A	Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test...	ORPHA:79443
Orthostatic Hypotension 1	Hypomagnesemia, Increased blood urea nitrogen	OMIM:223360
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Hypercalcemia, Hypophosphatemic rickets, Elevated circulating parathyroid ho...	OMIM:612089
Reticular Dysgenesis	Skin rash, Abnormality of mitochondrial metabolism, Weight loss, Chronic otitis media, Failure to...	ORPHA:33355
46,Xy Sex Reversal 8	Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia	OMIM:614279
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis, Distal amyotrophy, Dementia	OMIM:205200
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia...	ORPHA:94093
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy, Kypho...	OMIM:607855
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Waddling gait, Left ventricular hypertrophy, Left atrial enlargement, Ky...	OMIM:300280
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Spinal rigidity, Increased muscle lipid...	ORPHA:324604
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia	OMIM:239000
Myopathy, Mitochondrial, And Ataxia	Ataxia, Tremor, Inability to walk, Dysmetria, Depression, Limb ataxia, Distal sensory impairment,...	OMIM:617675
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Eosinophilic Fasciitis	Fatigue, Myositis, Fasciitis, Weight loss, Arthritis, Arthralgia, Myalgia, Paresthesia, Muscular ...	ORPHA:3165
Oculopharyngodistal Myopathy 4	Autophagic vacuoles, Postural tremor, Fatty replacement of skeletal muscle, Tremor, Increased var...	OMIM:619790
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia	ORPHA:199296
Myopathy, Tubular Aggregate, 1	Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Exercise-induced...	OMIM:160565
Focal Myositis	Myalgia, Weight loss	ORPHA:48918
Polymyositis	Fatigue, Pericarditis, Abdominal pain, Abnormal muscle fiber morphology, Dilated cardiomyopathy, ...	ORPHA:732
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Kyphosis, Inability to walk, Flexion contracture...	OMIM:609541
Congenital Myopathy 14	Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ...	OMIM:618414
Isaacs Syndrome	Calf muscle hypertrophy, Distal sensory impairment, Weight loss	ORPHA:84142
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:556030
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ...	OMIM:310440
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Abnormal mitochondrial shape	OMIM:610773
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Distal lower limb amyotrophy, Abnormal pinna morphology, Tremor, Kyphosis, Cryptorchidism, Gait a...	OMIM:300354
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Hyperlordosis, Limb muscle weakness, Myopathy, Type 1 muscle fiber predomi...	OMIM:603034
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Myopathy, Gait disturbance, Progressi...	OMIM:125250
Glycogen Storage Disease Ixd	Exercise intolerance, Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Q...	OMIM:300559
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes...	OMIM:241150
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Waddling gait, Skeletal muscle atrophy, Sudden cardiac death, Achilles tendon contracture, Type 1...	OMIM:310300
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired vibratory sensation, Impaired distal proprioception, Ragged-red muscle fibers, Dilated c...	ORPHA:70595
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Generalized dystonia, Inability to walk, Weight loss, Opisthotonus, Tip-toe ga...	ORPHA:216866
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Fatigue, Waddling gait, Tremor, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hype...	ORPHA:209335
Japanese Encephalitis	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Fatigue, Rigors, Hyperintensi...	ORPHA:79139
Hyperkalemic Periodic Paralysis	Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:682
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Dementia	OMIM:105500
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Weight loss	ORPHA:411593
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Amyotrophic Lateral Sclerosis 19	Loss of ambulation, Amyotrophic lateral sclerosis, Dementia	OMIM:615515
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Exercise intolerance, Scapular winging, Hyperlordosis, Decreased activity of mitochondrial comple...	OMIM:600462
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Atypical Juvenile Parkinsonism	Fatigue, Resting tremor, Dystonia, Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Scol...	ORPHA:391411
Loeffler Endocarditis	Fatigue, Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal ...	ORPHA:75566
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Optic atrophy, Dysmetria, Gait ataxia, Limb ataxia, Abnormal autonomic nervous system p...	OMIM:610743
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy...	OMIM:608807
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Frontotemporal dementia, Emotional lability	OMIM:612069
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia	OMIM:614736
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Idiopathic Camptocormia	Myositis, Amyotrophic lateral sclerosis, Abnormal intervertebral disk morphology, Fatty replaceme...	ORPHA:1320
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Mulibrey Nanism	Cachexia	ORPHA:2576
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Skeletal muscle atrophy, Failure to thrive, Small for gestational age, Ataxia, Abnormal pinna mor...	OMIM:615471
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Ataxia, Progressive neurologic deterioration, Kyphosis, Protruding ear, Gait disturbance, Scoliosis	ORPHA:85317
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Ataxia, Cachexia, Bowel incontinence, Kyphosis, Optic atrophy, Chor...	ORPHA:702
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Somatic sensory dysfunction, Tremor, Increased variability in muscle fiber dia...	ORPHA:502423
Sialidosis Type 2	Skeletal muscle atrophy, Ataxia, Tremor, Kyphosis, Flexion contracture, Hearing impairment	ORPHA:87876
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Rett Syndrome	Skeletal muscle atrophy, Dystonia, Cachexia, Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Trun...	OMIM:312750
Thrombotic Thrombocytopenic Purpura, Hereditary	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
Autosomal Dominant Progressive External Ophthalmoplegia	Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Abnormality of the mit...	ORPHA:254892
Borjeson-Forssman-Lehmann Syndrome	Cryptorchidism, Kyphosis, Obesity, Scoliosis, Macrotia, Scheuermann-like vertebral changes, Cervi...	OMIM:301900
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi...	OMIM:308750
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Ataxia, Hearing impairment, Optic atrophy, Athetosis, Distal amyotrophy, Loss of ambulation, Fibe...	OMIM:271245
Lethal Congenital Contracture Syndrome 9	Thoracic kyphoscoliosis, Elbow extension contracture, Centrally nucleated skeletal muscle fibers,...	OMIM:616503
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Familial Pseudohyperkalemia	Hyperkalemia	ORPHA:90044
Thymic Carcinoma	Fatigue, Chest pain, Weight loss	ORPHA:99868
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ...	OMIM:620265
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Atrophy of the spinal cord, ...	ORPHA:35689
Wilson Disease	Back pain, Bone pain, Increased body weight, Hepatitis, Weight loss, Depression, Proximal muscle ...	ORPHA:905
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis, Limb muscle weakness, Frontotemporal dementia	OMIM:619141
Christianson Syndrome	Decreased muscle mass, Dystonia, Cachexia, Gait ataxia, Truncal ataxia, Arthrogryposis multiplex ...	ORPHA:85278
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc...	OMIM:605355
Glycogen Storage Disease Due To Aldolase A Deficiency	Elevated creatine kinase after exercise, Hyperkalemia	ORPHA:57
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Camptodactyly	OMIM:618453
Cdkl5-Deficiency Disorder	Impaired pain sensation, Kyphosis, Gait disturbance, Difficulty walking, Scoliosis	ORPHA:505652
Combined Oxidative Phosphorylation Deficiency 24	Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, Decreased activity of mitochond...	OMIM:616239
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Urinary incontinence, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, U...	ORPHA:466768
Takayasu Arteritis	Fatigue, Abnormal endocardium morphology, Increased inflammatory response, Abnormal heart valve m...	ORPHA:3287
Dent Disease 2	Elevated circulating creatine kinase concentration, Hypophosphatemia	OMIM:300555
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter, Cryptorchidism	OMIM:616816
Gerstmann-Straussler Disease	Tremor, Limb ataxia, Depression, Emotional lability, Weight loss, Gait ataxia, Dementia, Truncal ...	OMIM:137440
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Autosomal Recessive Ataxia, Beauce Type	Impaired vibratory sensation, Skeletal muscle atrophy, Short attention span, Ataxia, Urinary inco...	ORPHA:88644
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Ragged-red muscle fibers, Myopathy, Dementia, Bilateral sensorineural hearing impairment, Left ve...	OMIM:540000
Hemochromatosis, Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, A...	OMIM:235200
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Inability to walk, Increased variability in muscle fiber diameter, Ataxia, Gait ataxia	OMIM:617915
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Small for gestational age	ORPHA:85288
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Decreased nerve conduction velocity, Optic disc pallor, Abnormal mitochondrial shape, Optic atrophy	ORPHA:485421
Brachyolmia Type 1, Hobaek Type	Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro...	OMIM:271530
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Creatine Phosphokinase, Elevated Serum	Fatigue, Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Myalgia, Muscular dys...	OMIM:123320
Galactose Epimerase Deficiency	Weight loss	ORPHA:79238
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Waddling gait, Broad-based gait, Calf muscle hypertrophy, Myopathy, Cardiomyopathy, Difficulty wa...	ORPHA:119
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine	ORPHA:54057
Greig Cephalopolysyndactyly Syndrome	Abnormal muscle fiber morphology, Cryptorchidism, Abnormal heart morphology, Camptodactyly of toe...	OMIM:175700
Huntington Disease-Like 1	Chorea, Dysmetria, Depression, Weight loss, Gait ataxia, Dementia, Gait disturbance, Cognitive im...	ORPHA:157941
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Thoracic kyphoscoliosis, Facial palsy, Triceps weakness, Weakness of lon...	ORPHA:98913
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Keratitis, Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber dia...	OMIM:226670
Amyotrophic Lateral Sclerosis	Fatigue, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Motor neuron atrophy, Depression...	ORPHA:803
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:171876
Mitochondrial Myopathy And Sideroblastic Anemia	Myopathy, Kyphosis, Generalized limb muscle atrophy, Scoliosis	ORPHA:2598
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Obesity, Scoliosis, Depression	ORPHA:276630
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Gait disturbance, Truncal obesity, Scoliosis	ORPHA:2429
Sialidosis Type 1	Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Kyphosis, Tremor, Sensorine...	ORPHA:812
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:205250
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Fatigue, Chills, Weight loss	ORPHA:86884
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Impaired pain sensation, Kyphosis, Chorea, Inability to walk, Gait ataxia, Dystonia, Limb hypertonia	ORPHA:500180
Fibrosis Of Extraocular Muscles, Congenital, 3C	Congenital fibrosis of extraocular muscles, Kyphosis	OMIM:609384
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Progressive sensorineural hearing impairment, Abnormal muscle fiber protein expression	ORPHA:330054
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Lymphatic Malformation 10	Hydrocele testis	OMIM:619369
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia	OMIM:618913
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor...	ORPHA:562
Amyotrophic Lateral Sclerosis 9	Amyotrophic lateral sclerosis, Distal amyotrophy	OMIM:611895
Myofibrillar Myopathy 10	Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Myalgia...	OMIM:619040
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Cachexia, Abnormal cardiac septum morphology, Abnormal fo...	ORPHA:93941
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Skin rash, Myocarditis, Proximal muscle weak...	ORPHA:206569
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ...	OMIM:609452
Klatskin Tumor	Fatigue, Abdominal pain, Weight loss	ORPHA:99978
Optic Atrophy 11	Ataxia, Optic nerve hypoplasia, Hearing impairment, Macrotia, Gait apraxia, Optic atrophy, Dysmet...	OMIM:617302
Pleural Mesothelioma	Constitutional symptom, Chest pain, Weight loss	ORPHA:50251
Schaaf-Yang Syndrome	Failure to thrive in infancy, Cryptorchidism, Kyphosis, Flexion contracture, Inability to walk, O...	OMIM:615547
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Frontotemporal dementia, Amyotrophic lateral sclerosis, Athetosis, Dystonia	OMIM:300857
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating osteocalcin level, Decreased circulating parathyroid hormone level, Increas...	ORPHA:157215
Classic Hodgkin Lymphoma	Fatigue, Chest pain, Bone pain, Weight loss	ORPHA:391
Masa Syndrome	Kyphosis, Shuffling gait, Hyperlordosis	OMIM:303350
Oculopharyngodistal Myopathy 1	Autophagic vacuoles, Facial palsy, Ataxia, Tremor, Sensorineural hearing impairment, Dilated card...	OMIM:164310
Liddle Syndrome	Hypokalemia	ORPHA:526
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy	OMIM:159050
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Baralle-Macken Syndrome	Urinary incontinence, Inability to walk, Kyphosis, Obesity, Dystonia	OMIM:619255
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Hip contracture, Facial hypotonia, Failure to thrive in infancy, Cachexia, Short neck, Posteriorl...	OMIM:616801
Congenital Myopathy 15	Waddling gait, Fatty replacement of skeletal muscle, Increased variability in muscle fiber diamet...	OMIM:620161
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Fatigue, Ataxia, Cardiomegaly, Dysesthesia, Unsteady gait, Optic atrophy, Limb ataxia, Depression...	OMIM:619259
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Hemifacial Atrophy, Progressive	Ataxia, Trigeminal neuralgia, Kyphosis, Horner syndrome, Microtia	OMIM:141300
Atypical Rett Syndrome	Impaired pain sensation, Tremor, Kyphosis, Inability to walk, Gait ataxia, Pill-rolling tremor, G...	ORPHA:3095
Behçet Disease	Myositis, Arthralgia, Infectious encephalitis, Fatigue, Ataxia, Confusion, Acne, Abdominal pain, ...	ORPHA:117
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:617892
Benign Recurrent Intrahepatic Cholestasis	Fatigue, Abdominal pain, Weight loss	ORPHA:65682
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Hypouricemia, Renal, 2	Hypouricemia	OMIM:612076
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Skeletal muscle atrophy, Ataxia, Cachexia, Decreased nerve conduction velocity, Sensorineural hea...	ORPHA:1933
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Kyphosis, Abnormal form of the vertebral bodies,...	ORPHA:1354
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Oromandibular Dystonia	Torticollis, Generalized dystonia, Depression, Weight loss, Blepharospasm, Lingual dystonia, Limb...	ORPHA:93958
Amyotrophic Lateral Sclerosis 1	Degeneration of anterior horn cells, Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:105400
Ck Syndrome	Posteriorly rotated ears, Hyperlordosis, Kyphosis, Irritability, Scoliosis, Slender build	OMIM:300831
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Short neck, External ear malformation, Cryptorchidism, Obesity, ...	ORPHA:251071
Erythrokeratodermia Variabilis	Skin rash, Protruding ear, Weight loss, Abnormal testis morphology, Hearing impairment	ORPHA:317
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p...	ORPHA:98902
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Fatigue, Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abnormal sacroiliac joint morph...	ORPHA:324964
Congenital Fiber-Type Disproportion Myopathy	Flexion contracture, Knee flexion contracture, Aspiration pneumonia, Foot dorsiflexor weakness, F...	ORPHA:2020
Amyotrophic Lateral Sclerosis 18	Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:614808
Cystinosis	Nephrogenic diabetes insipidus, Hypophosphatemia, Hypokalemia, Delayed puberty, Type I diabetes m...	ORPHA:213
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia	OMIM:242050
Moynahan Syndrome	Cachexia	ORPHA:2574
Eosinophilic Granulomatosis With Polyangiitis	Fatigue, Increased inflammatory response, Myositis, Sinusitis, Skin rash, Abnormal pericardium mo...	ORPHA:183
Inflammatory Bowel Disease (Crohn Disease) 1	Abdominal pain, Weight loss	OMIM:266600
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:89937
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Hypoalbuminemia	OMIM:608104
Emanuel Syndrome	Chronic oral candidiasis, Torticollis, Sacral dimple, Truncus arteriosus, Ventricular septal defe...	OMIM:609029
Congenital Myasthenic Syndrome	Neuropathic spinal arthropathy, Waddling gait, Ataxia, Kyphoscoliosis, Spinal rigidity, Limb-gird...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Neuropathic spinal arthropathy, Waddling gait, Ataxia, Kyphoscoliosis, Spinal rigidity, Limb-gird...	ORPHA:98914
Linear Verrucous Nevus Syndrome	Hypophosphatemia	ORPHA:2611
Hirschsprung Disease	Abdominal pain, Failure to thrive in infancy, Weight loss	ORPHA:388
Coenzyme Q10 Deficiency, Primary, 1	Fatigue, Ataxia, Tremor, Sensorineural hearing impairment, Ragged-red muscle fibers, Loss of ambu...	OMIM:607426
15Q24 Microdeletion Syndrome	Small for gestational age, Congenital diaphragmatic hernia, Cryptorchidism, Kyphosis, Obesity, Ab...	ORPHA:94065
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Abdominal pain, Hypoesthesia, Sensorineural hearing impairment, Ragged-red muscle fiber...	OMIM:603041
Hereditary Late-Onset Parkinson Disease	Resting tremor, Akinesia, Depression, Weight loss, Dementia, Low frustration tolerance, Shuffling...	ORPHA:411602
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Cockayne Syndrome Type 2	Ataxia, Hearing impairment, Cryptorchidism, Kyphosis, Flexion contracture, Uveitis, Gait disturba...	ORPHA:90322
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Hearing impairment, Kyphosis,...	OMIM:211530
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Distal amyotrophy, Scoliosis, Congenital foot contractures	ORPHA:3454
Ullrich Congenital Muscular Dystrophy 2	Facial palsy, Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter...	OMIM:616470
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Melas	Exercise intolerance, Short attention span, Ataxia, Sensorineural hearing impairment, Ragged-red ...	ORPHA:550
Pseudomyxoma Peritonei	Abdominal pain, Weight loss	ORPHA:26790
Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:427
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Relapsing Fever	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:91547
Rheumatoid Arthritis	Fatigue, Arthralgia, Weight loss	OMIM:180300
Rat-Bite Fever	Back pain, Lymphadenitis, Arthralgia, Morbilliform rash, Chills, Maculopapular exanthema, Parotit...	ORPHA:31205
Cryptogenic Organizing Pneumonia	Fatigue, Night sweats, Weight loss, Chest pain, Arthralgia	ORPHA:1302
Jaberi-Elahi Syndrome	Broad-based gait, Tremor, Kyphosis, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Cho...	OMIM:617988
Lopes-Maciel-Rodan Syndrome	Tremor, Kyphosis, Unsteady gait, Scoliosis, Dystonia	OMIM:617435
Non-Functioning Paraganglioma	Fatigue, Pulsatile tinnitus, Tremor, Cranial nerve compression, Weight loss, Episodic abdominal p...	ORPHA:94080
O'Donnell-Luria-Rodan Syndrome	Cryptorchidism, Kyphosis	OMIM:618512
Frontotemporal Dementia	Amyotrophic lateral sclerosis, Frontotemporal dementia, Frontal lobe dementia, Irritability, Deme...	OMIM:600274
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Abnormal pinna morphology, Facial palsy, Hyperlordosis, Abnormal muscle ...	ORPHA:3068
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Hyperamylasemia	OMIM:604278
Intellectual Developmental Disorder, Autosomal Dominant 26	Small for gestational age, Kyphosis, Low-set ears, Scoliosis, Arthrogryposis multiplex congenita	OMIM:615834
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Ataxia, Kyphosis, Unsteady gait, Protruding ear, Scoliosis	OMIM:300861
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia	OMIM:154020
Sickle Cell Anemia	Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia	ORPHA:232
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Scoliosis	OMIM:300434
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Scapular winging, Decreased compound muscle action potential amplitude, Osteoarthritis, Bronchiec...	OMIM:620080
Perry Syndrome	Akinesia, Tremor, Frontotemporal dementia, Depression, Weight loss, Dystonia, Short stepped shuff...	OMIM:168605
Cap Polyposis	Abdominal pain, Weight loss	ORPHA:160148
Renpenning Syndrome	Skeletal muscle atrophy, Cachexia, Sensorineural hearing impairment, Round ear, Macrotia, Decreas...	ORPHA:3242
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Thoracolumbar scoliosis, Kyphosis, Knee flexion contracture, Platyspondyly	OMIM:313420
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Pustule, Flexion contracture...	ORPHA:77297
Lynch Syndrome	Fatigue, Abdominal pain, Flexion contracture, Depression, Weight loss, Irritability, Gait disturb...	ORPHA:144
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Posteriorly rotated ears, Facial palsy, Urinary incontinence, Short neck, Kyphos...	OMIM:301041
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Amyotrophic lateral sclerosis, Ataxia, Frontotemporal dementia, Sensorineural hearing impairment,...	OMIM:615911
Chronic Beryllium Disease	Fatigue, Weight loss	ORPHA:133
Alexander Disease Type I	Cachexia, Failure to thrive, Ataxia, Scoliosis	ORPHA:363717
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Elevated circulating parathyroid hormone level, Hypocalcemia, Secondary hyperparathyroidism, Hypo...	OMIM:264700
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration	ORPHA:340
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration	OMIM:614376
Whipple Disease	Fatigue, Myositis, Pericarditis, Ataxia, Cachexia, Abdominal pain, Myocarditis, Uveitis, Depressi...	ORPHA:3452
Zimmermann-Laband Syndrome 3	Kyphosis, Flexion contracture	OMIM:618658
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Decreased circulating parat...	OMIM:241530
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal...	ORPHA:411634
Alveolar Echinococcosis	Fatigue, Low back pain, Ataxia, Abnormal pericardium morphology, Cholangitis, Abdominal pain, Abn...	ORPHA:284
X-Linked Agammaglobulinemia	Fatigue, Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Sensorineura...	ORPHA:47
Mucopolysaccharidosis Type 6	Sinusitis, Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Kyphosis, Macrogl...	ORPHA:583
Birk-Landau-Perez Syndrome	Hyperkalemia, Increased circulating creatine kinase MB isoform	OMIM:617595
Leishmaniasis	Fatigue, Night sweats, Arthralgia, Weight loss	ORPHA:507
Peripheral Primitive Neuroectodermal Tumor	Back pain, Abnormal thoracic spine morphology, Torticollis, Somatic sensory dysfunction, Spinal c...	ORPHA:370348
Hypocalciuric Hypercalcemia, Familial, Type Iii	Primary hyperparathyroidism, Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Peritoneal Cystic Mesothelioma	Abdominal pain, Weight loss	ORPHA:168816
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Limb joint contracture, Increased in...	ORPHA:93314
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Inability to walk, Flexion co...	ORPHA:258
Combined Oxidative Phosphorylation Deficiency 12	Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, Decreased activity of m...	OMIM:614924
Yao Syndrome	Ventricular hypertrophy, Pericarditis, Inflammatory abnormality of the skin, Skin rash, Abdominal...	OMIM:617321
Wieacker-Wolff Syndrome	Dystonia, Facial palsy, Short neck, Hyperlordosis, Kyphosis, Congenital foot contractures, Distal...	OMIM:314580
Familial Colorectal Cancer Type X	Fatigue, Abdominal pain, Flexion contracture, Depression, Weight loss, Irritability, Gait disturb...	ORPHA:440437
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Giant Cell Arteritis	Fatigue, Pericarditis, Ataxia, Sudden cardiac death, Abdominal pain, Optic atrophy, Weight loss, ...	ORPHA:397
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Elevated circulating parath...	OMIM:307800
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Cystic Echinococcosis	Fatigue, Abnormality of the testis size, Weight loss, Abnormal heart morphology, Membranous nephr...	ORPHA:400
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone ...	OMIM:239200
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Dementia	OMIM:617839
Autosomal Recessive Spondylocostal Dysostosis	Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Camptodactyly of fing...	ORPHA:2311
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Central Diabetes Insipidus	Failure to thrive, Weight loss	ORPHA:178029
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia	ORPHA:199299
Native American Myopathy	Skeletal muscle atrophy, Cryptorchidism, Abnormality of skeletal muscle fiber size, Inability to ...	ORPHA:168572
Arthrogryposis, Distal, Type 5	Exercise intolerance, Decreased muscle mass, Kyphosis, Protruding ear, Distal arthrogryposis, Fir...	OMIM:108145
Alpha-Mannosidosis	Short neck, Kyphosis, Macroglossia, Arthritis, Scoliosis, Abnormal helix morphology, Chronic otit...	ORPHA:61
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperlordosis, Cryptorchidism, Kyphosis, Sensorineural hearing impairment, Obesity, Decreased tes...	ORPHA:3085
Winchester Syndrome	Kyphosis	OMIM:277950
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Camptodactyly of finger, Cachexia, Short neck, Tremor, Kyphosis, Obesity, Abnor...	ORPHA:85293
Neuropathy, Congenital Hypomyelinating, 3	Decreased motor nerve conduction velocity, Limb joint contracture, Cachexia, Hearing impairment, ...	OMIM:618186
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:49041
Osteosarcoma	Pain, Weight loss	ORPHA:668
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Abnormal testis morphology, Scoliosis	ORPHA:1548
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Hypocalcemia, Hypophosphatemia	ORPHA:93160
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Facial palsy, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Tremor, Myo...	OMIM:619424
Alexander Disease	Ataxia, Facial palsy, Sudden cardiac death, Bowel incontinence, Short neck, Hyperlordosis, Kyphos...	ORPHA:58
Lateral Meningocele Syndrome	Vertebral fusion, Decreased muscle mass, Tethered cord, Bicuspid aortic valve, Ventricular septal...	OMIM:130720
Perry Syndrome	Tremor, Depression, Dementia, Weight loss	ORPHA:178509
Malignant Peritoneal Mesothelioma	Abdominal pain, Weight loss	ORPHA:168811
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	OMIM:218030
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Fatigue, Scapular winging, Pain insensitivity, Ventricular septal defect, Tremor, Kyphosis, Scoli...	OMIM:617061
Mucopolysaccharidosis, Type Iva	Waddling gait, Abnormal heart valve morphology, Ovoid vertebral bodies, Hyperlordosis, Short neck...	OMIM:253000
Crisponi Syndrome	Camptodactyly of finger, Sudden cardiac death, Kyphosis, Flexion contracture, Scoliosis, Cognitiv...	ORPHA:1545
Symptomatic Form Of Hfe-Related Hemochromatosis	Fatigue, Decreased muscle mass, Abdominal pain, Cardiomegaly, Weight loss, Cardiomyopathy, Arthri...	ORPHA:465508
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Attrv30M Amyloidosis	Cardiomyopathy, Cardiomegaly, Abnormal autonomic nervous system physiology, Weight loss	ORPHA:85447
Fumarase Deficiency	Necrotizing enterocolitis, Optic atrophy, Perimembranous ventricular septal defect, Failure to th...	OMIM:606812
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration	ORPHA:90060
Diastrophic Dysplasia	Low-set, posteriorly rotated ears, Camptodactyly of finger, Cryptorchidism, Kyphosis, Abnormal fo...	ORPHA:628
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Muscle fiber atrophy, Failure to thrive, Flexion contracture	OMIM:620240
X-Linked Intellectual Disability Due To Gria3 Mutations	Pain insensitivity, Facial hypotonia, Uplifted earlobe, Cryptorchidism, Kyphosis, Macrotia, Scoli...	ORPHA:364028
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Elevated circulating parathyroid hormone level, Secondary hyperparathyroid...	OMIM:277440
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co...	OMIM:608836
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Low-set, posteriorly rotated ears, Hip contracture, Cachexia, Short neck, Elbow flexion contractu...	ORPHA:371364
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Confusion, Dementia, Semantic dementia, Memory impairment, Deposits immunoreactive to bet...	ORPHA:1020
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Hypouricemia, Hypophosphatemia	OMIM:616026
Cockayne Syndrome Type 1	Increased blood urea nitrogen	ORPHA:90321
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration	ORPHA:79126
Choreoacanthocytosis	Peroneal muscle atrophy, Chorea, Oromandibular dystonia, Limb dystonia, Loss of ambulation, Muscl...	ORPHA:2388
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Secundum atrial septal defect, Patent foramen ovale, Flexion contracture...	OMIM:616866
Glossopharyngeal Neuralgia	Abnormality of the cervical spine, Episodic pain, Dysesthesia, Ear pain, Cranial nerve compressio...	ORPHA:221098
Chromosome 3Q13.31 Deletion Syndrome	Cryptorchidism, Kyphosis, Low-set ears, Attention deficit hyperactivity disorder, Macrotia, Decre...	OMIM:615433
Holocarboxylase Synthetase Deficiency	Ataxia, Eczema, Keratoconjunctivitis, Weight loss, Irritability, Perioral eczema	ORPHA:79242
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Short neck, Cryptorchidism, Kyphosis, Aplasia/Hypoplasia of the earlobes...	ORPHA:3409
Developmental Malformations-Deafness-Dystonia Syndrome	Generalized dystonia, Kyphosis, Sensorineural hearing impairment, Macroglossia, Scoliosis, Mental...	ORPHA:79107
Distal Triplication 15Q	Large for gestational age, Kyphosis, Sensorineural hearing impairment, Flexion contracture, Cuppe...	ORPHA:314588
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox...	OMIM:614302
Zimmermann-Laband Syndrome 2	Macroglossia, Sensorineural hearing impairment, Kyphosis, Short neck	OMIM:616455
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Frontotemporal dementia, Amyotrophic lateral sclerosis	OMIM:616208
Metatropic Dysplasia	Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Flexion con...	OMIM:156530
Infantile Krabbe Disease	Psychomotor deterioration, Prolonged brainstem auditory evoked potentials, Cachexia, Progressive ...	ORPHA:206436
Systemic Capillary Leak Syndrome	Fatigue, Abdominal pain, Weight loss, Myalgia, Constitutional symptom	ORPHA:188
Danon Disease	Myocardial necrosis, Exercise intolerance, Cardiomegaly, Dilated cardiomyopathy, Lower limb amyot...	OMIM:300257
Overlap Myositis	Proximal muscle weakness in upper limbs, Perifascicular muscle fiber atrophy, Abnormal heart morp...	ORPHA:206572
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Abnormal pinna morphology, K...	OMIM:618291
Polyarteritis Nodosa	Abdominal pain, Arthralgia, Myalgia, Weight loss	ORPHA:767
Aicardi-Goutieres Syndrome 9	Pericarditis, Acute pancreatitis, Chilblains, Pericardial effusion, Optic atrophy, Weight loss, I...	OMIM:619487
Renal Hypoplasia, Bilateral	Hyponatremia, Hyperkalemia	ORPHA:97362
Mitochondrial Complex I Deficiency, Nuclear Type 1	Exercise intolerance, Skeletal muscle atrophy, Optic disc pallor, Ataxia, Optic neuropathy, Senso...	OMIM:252010
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Loss of ambulation, Amyotrophic lateral sclerosis	OMIM:613435
Hypotonia-Cystinuria Syndrome	Failure to thrive, Posteriorly rotated ears, Facial palsy, Ragged-red muscle fibers, Macrotia	OMIM:606407
Kaposi Sarcoma	Fatigue, Weight loss	ORPHA:33276
Ane Syndrome	Multiple joint contractures, Kyphoscoliosis, Motor neuron atrophy, Generalized amyotrophy, Motor ...	ORPHA:157954
Fibrous Dysplasia Of Bone	Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho...	ORPHA:249
Metatropic Dysplasia	Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Camptodactyly of fing...	ORPHA:2635
Hypercalcemia, Infantile, 1	Failure to thrive, Weight loss	OMIM:143880
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Renal Tubular Acidosis Iii	Hypokalemia	OMIM:267200
Brucellosis	Chorea, Knee osteoarthritis, Arthralgia, Chills, Infectious encephalitis, Fatigue, Abdominal pain...	ORPHA:1304
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia	OMIM:188580
Pelger-Huet Anomaly	Ventricular septal defect, Eczema, Kyphosis, Lower limb hypertonia, Recurrent otitis media, Failu...	OMIM:169400
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia	OMIM:602722
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame...	OMIM:619461
Fanconi Renotubular Syndrome 2	Elevated circulating parathyroid hormone level, Hypophosphatemia	OMIM:613388
Microcephalic Primordial Dwarfism, Montreal Type	Low-set, posteriorly rotated ears, Cryptorchidism, Kyphosis, Vertebral segmentation defect, Scoli...	ORPHA:2617
Trisomy 20P	Low-set, posteriorly rotated ears, Camptodactyly of finger, Spina bifida, Short neck, Cryptorchid...	ORPHA:261318
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Premature osteoart...	OMIM:130060
Metaphyseal Chondrodysplasia, Jansen Type	Hypoparathyroidism, Hypercalcemia, Hypophosphatemia	OMIM:156400
Neutral Lipid Storage Myopathy	Hand muscle weakness, Fatty replacement of skeletal muscle, Chronic pancreatitis, Sensorineural h...	ORPHA:98908
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha...	OMIM:619743
Acute Adrenal Insufficiency	Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia	ORPHA:95409
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Encopresis, Inability to walk, Unsteady...	OMIM:618443
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Testicular atrophy	OMIM:160900
Hypocalcemic Vitamin D-Dependent Rickets	Elevated circulating parathyroid hormone level, Hypocalcemia, Secondary hyperparathyroidism, Hypo...	ORPHA:289157
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration	OMIM:266900
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Short neck, Wrist flexion contracture, Low-set, posteriorly rotated ears...	ORPHA:800
Kearns-Sayre Syndrome	Ataxia, Sensorineural hearing impairment, Ragged-red muscle fibers, Cardiomyopathy, Dementia	OMIM:530000
19P13.12 Microdeletion Syndrome	Ventricular septal defect, Short neck, External ear malformation, Kyphosis, Cryptorchidism, Condu...	ORPHA:254346
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia	OMIM:618885
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cryptorchidism, Macrotia, Kyphosis, Scoliosis	OMIM:619797
Idiopathic Bronchiectasis	Halitosis, Chest pain, Cachexia	ORPHA:60033
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Mildly elevated creatine kinase	ORPHA:681
Neuromuscular Oculoauditory Syndrome	Posteriorly rotated ears, Decreased nerve conduction velocity, Simple ear, Sensorineural hearing ...	OMIM:618733
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Overweight, Cryptorchidism, Kyphosis, Flexion contracture, Gait disturbance, Scoliosis, Attention...	ORPHA:500055
Spondyloepiphyseal Dysplasia Congenita	Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Hip pa...	ORPHA:94068
Frank-Ter Haar Syndrome	Acne, Camptodactyly of finger, Kyphosis, Mitral valve prolapse, Protruding ear, Scoliosis, Beakin...	ORPHA:137834
Lateral Meningocele Syndrome	Ventricular septal defect, Posteriorly rotated ears, Hyperlordosis, Short neck, Cryptorchidism, K...	ORPHA:2789
Triosephosphate Isomerase Deficiency	Skeletal muscle atrophy, Optic disc pallor, Tremor, Kyphosis, Unsteady gait, Myopathy, Cholecysti...	OMIM:615512
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Abnor...	ORPHA:99880
Allergic Bronchopulmonary Aspergillosis	Weight loss	ORPHA:1164
Hall-Riggs Syndrome	Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure to thrive	OMIM:234250
Trisomy 13	Ventricular septal defect, Cryptorchidism, Kyphosis, Sensorineural hearing impairment, Optic atro...	ORPHA:3378
Mirage Syndrome	Hyponatremia, Hyperkalemia	OMIM:617053
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Impaired vibratory sensation, Thoracic kyphoscoliosis, Decreased muscle mass, Thoracic scoliosis,...	ORPHA:1900
Silver-Russell Syndrome	Low-set, posteriorly rotated ears, Decreased muscle mass, Failure to thrive in infancy, Cachexia,...	ORPHA:813
Aggressive Systemic Mastocytosis	Fatigue, Abdominal pain, Bone pain, Weight loss, Arthralgia, Abdominal cramps, Constitutional sym...	ORPHA:98850
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:90791
Nephroblastoma	Abdominal pain, Weight loss	ORPHA:654
Subaortic Stenosis-Short Stature Syndrome	Low-set, posteriorly rotated ears, Acne, Short neck, Kyphosis, Obesity, Membranous subvalvular ao...	ORPHA:3191
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Abnor...	ORPHA:143
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Camptodactyly of finger, Kyphosis, Sensorineural hearing impairment, Joint contracture of the 5th...	ORPHA:1883
Aapoaiv Amyloidosis	Hyperlipidemia, Elevated circulating creatinine concentration	ORPHA:439232
Rhabdoid Tumor	Abdominal pain, Weight loss	ORPHA:69077
Mucolipidosis Type Ii	Hip contracture, Abnormal mitral valve morphology, Diastasis recti, Kyphosis, Inability to walk, ...	ORPHA:576
Pulmonary Non-Tuberculous Mycobacterial Infection	Chest pain, Asthenia, Weight loss	ORPHA:411703
Autosomal Recessive Spastic Paraplegia Type 35	Generalized dystonia, Urinary incontinence, Bowel incontinence, Kyphosis, Optic atrophy, Dysmetri...	ORPHA:171629
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia	OMIM:613239
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Memory impairment, Amyotrophic lateral sclerosis, Limb muscle weakness, Frontotemporal dementia	OMIM:619133
Marden-Walker Syndrome	Decreased muscle mass, Dextrocardia, Short neck, Cryptorchidism, Kyphosis, Congenital contracture...	OMIM:248700
Bone Marrow Failure Syndrome 5	Hypogonadism, Testicular atrophy	OMIM:618165
Rhizomelic Syndrome, Urbach Type	Acne, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Cognitive impairment, Pulmonic...	ORPHA:3098
Postencephalitic Parkinsonism	Resting tremor, Camptocormia, Oculogyric crisis, Akinesia, Kyphosis, Depression, Paresthesia, Tre...	ORPHA:97349
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Familial Glucocorticoid Deficiency	Hyponatremia, Hyperkalemia	ORPHA:361
Bone Dysplasia, Lethal Holmgren Type	Short neck, Weight loss, Atrial septal defect, Hypertrophic cardiomyopathy, Failure to thrive	ORPHA:1842
Mucopolysaccharidosis Type 4	Abnormal heart valve morphology, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Plat...	ORPHA:582
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Night sweats, Weight loss, Salmonella osteomyelitis	OMIM:209950
Spondyloepiphyseal Dysplasia Congenita	Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto...	OMIM:183900
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent...	OMIM:227810
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c...	ORPHA:79102
Deafness-Lymphedema-Leukemia Syndrome	Fatigue, Weight loss	ORPHA:3226
Neuroblastoma, Susceptibility To, 1	Ataxia, Abdominal pain, Spinal cord compression, Bone pain, Horner syndrome, Weight loss, Failure...	OMIM:256700
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Exercise intolerance, Rhabdomyolysis, Increased muscle lipid content, Exercise-induced myalgia, T...	ORPHA:228302
2P15P16.1 Microdeletion Syndrome	Optic nerve hypoplasia, Camptodactyly of finger, Facial palsy, Kyphosis, Optic atrophy, Protrudin...	ORPHA:261349
Desmoplastic Small Round Cell Tumor	Abdominal pain, Cachexia, Weight loss	ORPHA:83469
Nodular Non-Suppurative Panniculitis	Abdominal pain, Arthralgia, Myalgia, Weight loss	ORPHA:33577
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Exercise intolerance, Ataxia, Cholangitis, Rhabdomyolysis, Ragged-red muscle fibers, Decreased ac...	OMIM:124000
Corticosteroid-Binding Globulin Deficiency	Hypokalemia	OMIM:611489
Camurati-Engelmann Disease	Waddling gait, Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Hyperlordosis, Kyphosis, ...	ORPHA:1328
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Acth-Independent Macronodular Adrenal Hyperplasia	Skeletal muscle atrophy, Kyphosis, Depression, Truncal obesity, Mental deterioration, Emotional l...	OMIM:219080
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Kyphosis, Inability to walk, Unsteady gait, Optic atrophy, Elbow flexion contrac...	OMIM:618493
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic rickets, Hypophosphatemia	OMIM:300554
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hyperlordosis, Kyphosis, Low-set ears, Scoliosis	OMIM:615761
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Thoracic scoliosis, Abnormality of skeletal muscle fiber size, Increased...	OMIM:620278
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir...	ORPHA:90038
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Conjugated hyperbilirubinemia, Hyperkalemia	OMIM:608885
Familial Partial Lipodystrophy, Dunnigan Type	Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy, Myopathy, Myalgia, Hypert...	ORPHA:2348
Al Amyloidosis	Fatigue, Abnormal cardiac ventricle morphology, Weight loss, Abnormal heart morphology, Macroglos...	ORPHA:85443
Clark-Baraitser syndrome	Macroorchidism, Kyphosis, Obesity, Scoliosis	OMIM:300602
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Decreased circulating renin level	OMIM:613677
Pseudoachondroplasia	Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Osteoarthritis...	OMIM:177170
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Kyphosis, Abnormal cardiac septum morphology, Sc...	ORPHA:2075
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Hyperkalemia	ORPHA:90790
Mucolipidosis Iii Gamma	Hyperlordosis, Short neck, Kyphosis, Arthralgia, Scoliosis, Aortic valve stenosis	OMIM:252605
Sjögren-Larsson Syndrome	Kyphosis, Inflammatory abnormality of the eye, Scoliosis	ORPHA:816
Acute Monoblastic/Monocytic Leukemia	Fatigue, Weight loss	ORPHA:514
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin...	ORPHA:36234
Coffin-Lowry Syndrome	Skeletal muscle atrophy, Kyphosis, Sensorineural hearing impairment, Optic atrophy, Abnormal form...	ORPHA:192
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Pparg-Related Familial Partial Lipodystrophy	Calf muscle pseudohypertrophy, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertr...	ORPHA:79083
Simple Cryoglobulinemia	Fatigue, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Progressive neu...	ORPHA:91139
Arthrogryposis, Distal, Type 4	Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Distal arthrogryposis, Lumbar scoliosis,...	OMIM:609128
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Small for gestational age, Bicuspid aortic valve, Ventricular se...	OMIM:610443
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Fanconi-Bickel Syndrome	Diabetes mellitus, Hypophosphatemia, Hypertriglyceridemia	ORPHA:2088
Cronkhite-Canada Syndrome	Fatigue, Cachexia, Abdominal pain	ORPHA:2930
Hip Dysplasia, Beukes Type	Kyphosis, Osteoarthritis, Scoliosis	ORPHA:2114
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly	ORPHA:2786
Bullous Pemphigoid	Weight loss	ORPHA:703
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:214700
Anaplastic Thyroid Carcinoma	Pain, Weight loss, Abnormal skeletal muscle morphology	ORPHA:142
Congenital Disorder Of Glycosylation, Type Il	Short neck, Pericardial effusion, Kyphosis, Abnormal cardiac septum morphology, Low-set ears, Fai...	OMIM:608776
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Cryptorchidism, Kyphosis, Sensorineural hearing impairment, Scoliosis, Joint contracture	OMIM:615381
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Thoracic scoliosis, Ventricular septal defect, Kyphosis, Knee flexion co...	OMIM:603387
Srd5A3-Cdg	Ataxia, Kyphosis, Abnormal sacrum morphology, Optic atrophy, Hearing impairment	ORPHA:324737
Bruck Syndrome 1	Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Vertebral wedgin...	OMIM:259450
Becker Nevus Syndrome	Kyphosis, Spina bifida occulta, Scoliosis, Shoulder girdle muscle atrophy	ORPHA:64755
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sacral dimple, Dystonia, Ataxia, Eczema, Short neck, Tremor, Kyphosis, Prominent protruding coccy...	OMIM:300966
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate...	OMIM:305400
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Abnormal heart valve morphology, Diastasis recti, S...	OMIM:253220
Wolf-Hirschhorn Syndrome	Low-set, posteriorly rotated ears, Sacral dimple, Tethered cord, Abnormal heart valve morphology,...	ORPHA:280
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia	ORPHA:29073
Felty Syndrome	Episcleritis, Pericarditis, Sinusitis, Recurrent pneumonia, Synovitis, Weight loss, Arthritis, Ar...	ORPHA:47612
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Kyphosis, Gait disturbance, Scoliosis	ORPHA:2181
4Q21 Microdeletion Syndrome	Short neck, Tremor, Kyphosis, Low-set ears, Scoliosis, Hearing impairment	ORPHA:238750
3C Syndrome	Ventricular septal defect, Abnormal mitral valve morphology, Short neck, Kyphosis, Optic atrophy,...	ORPHA:7
Celiac Disease, Susceptibility To, 1	Ataxia, Eczema, Abdominal pain, Thyroiditis, Weight loss, Depression, Arthralgia, Recurrent aphth...	OMIM:212750
Idiopathic Chronic Eosinophilic Pneumonia	Night sweats, Arthralgia, Asthenia, Weight loss	ORPHA:2902
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Frontotemporal dementia, Depression, Mental deterioration...	ORPHA:100070
Ehlers-Danlos Syndrome, Classic-Like	Quadricuspid aortic valve, Mitral valve prolapse, Proximal amyotrophy, Arthralgia, Muscle fiber s...	OMIM:606408
Fatal Familial Insomnia	Dementia, Ataxia, Abnormal autonomic nervous system physiology, Weight loss	OMIM:600072
Myasthenic Syndrome, Congenital, 20, Presynaptic	Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita	OMIM:617143
Fucosidosis	Decreased muscle mass, Cardiomegaly, Kyphosis, Anterior beaking of lumbar vertebrae, Failure to t...	ORPHA:349
Addison Disease	Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia	ORPHA:85138
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Thoracolumbar scoliosis, Congenital diaphragmatic hernia, Weakness o...	OMIM:265000
Malignant Atrophic Papulosis	Fatigue, Pain insensitivity, Abnormal pericardium morphology, Abdominal pain, Peritonitis, Weight...	ORPHA:679
Solitary Fibrous Tumor	Fatigue, Low back pain, Night sweats, Weight loss	ORPHA:2126
Acquired Hypertrichosis Lanuginosa	Macroglossia, Weight loss	ORPHA:2221
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p...	ORPHA:508533
Sporadic Pheochromocytoma/Secreting Paraganglioma	Fatigue, Pulsatile tinnitus, Tremor, Cranial nerve compression, Weight loss, Episodic abdominal p...	ORPHA:276621
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hyperlordosis, Spinal cord compression, Kyphosis, Short neck, Fused cervical vertebrae, Low-set ears	ORPHA:2522
X-Linked Creatine Transporter Deficiency	Ataxia, Aganglionic megacolon, Cachexia, Chorea, Athetosis, Dystonia	ORPHA:52503
Inflammatory Pseudotumor Of The Liver	Abdominal pain, Asthenia, Weight loss	ORPHA:90003
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Gait disturbance, Camptodactyly of finger, Cachexia	ORPHA:2774
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Short neck, Cryptorchidism, Kyphosis, Aplasia/Hypoplasia of the earlobes, Abnormal antihelix morp...	ORPHA:3082
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated circulating creatinine concentration	ORPHA:247691
Stickler Syndrome, Type I	Kyphosis, Osteoarthritis, Sensorineural hearing impairment, Mitral valve prolapse, Arthritis, Pla...	OMIM:108300
Cockayne Syndrome	Skeletal muscle atrophy, Urinary incontinence, Congenital contracture, Progressive gait ataxia, I...	ORPHA:191
Graves Disease, Susceptibility To, 1	Weight loss	OMIM:275000
Congenital Heart Defects And Skeletal Malformations Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Kyphosis, Scoliosis, ...	OMIM:617602
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Cryptorchidism, Kyphosis, Abnormal heart morphology, Attention deficit...	ORPHA:404440
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormal heart valve morphology, Short neck, Kyphosis, Flexion contracture, Recurren...	OMIM:309900
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Cachexia, Short neck, Abnormal antihelix morphology, Large earlobe, Low-se...	ORPHA:1438
Oculogastrointestinal Muscular Dystrophy	Abnormal mitral valve morphology, Skeletal muscle atrophy, Myopathy, Cachexia	ORPHA:1876
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia	OMIM:611590
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Iridocyclitis, Flexion contracture, Knee osteoarthritis, Oligoarthritis, Uveitis, Weight loss, En...	ORPHA:85408
Familial Hyperaldosteronism Type I	Hypokalemia	ORPHA:403
Mucopolysaccharidosis, Type Ivb	Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Cerv...	OMIM:253010
Desbuquois Dysplasia 1	Waddling gait, Hyperlordosis, Short neck, Kyphosis, Osteoarthritis, Obesity, Platyspondyly, Scoli...	OMIM:251450
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Chorea, Dilated cardiomyopathy, Ragged-red muscle fibers, Optic atrophy, Sensorineural he...	ORPHA:255210
Thanatophoric Dysplasia Type 2	Kyphosis, Platyspondyly, Cognitive impairment, Atrial septal defect, Hearing impairment	ORPHA:93274
Autoimmune Pulmonary Alveolar Proteinosis	Fatigue, Chest pain, Weight loss	ORPHA:747
Juvenile Dermatomyositis	Calcinosis, Fatigue, Myositis, Pericarditis, Skin rash, Abdominal pain, Weight loss, Cardiomyopat...	ORPHA:93672
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Arthralgia, Scoliosis, Hump...	OMIM:313400
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Failure to thrive, Small for gestational age, Ventricular septal defect, Ankle...	ORPHA:464311
Oxoglutaric Aciduria	Abnormality of Krebs cycle metabolism	ORPHA:31
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Lymphadenitis, Nephritis, Infectious encephalitis, Abdominal pa...	ORPHA:2552
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Acute Promyelocytic Leukemia	Fatigue, Abdominal pain, Bone pain, Weight loss, Gangrene	ORPHA:520
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Alg1-Cdg	Kyphosis, Abnormal heart morphology, Scoliosis, Cardiomyopathy	ORPHA:79327
Hereditary Leiomyomatosis And Renal Cell Cancer	Decreased fumarate hydratase activity	OMIM:150800
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Bone pain, Gait disturbance	ORPHA:85193
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Congenital muscular torticollis, Vertebral fusion, Kyphosis, Aplasia/Hypoplasia of the earlobes, ...	ORPHA:2916
Pemphigus Vulgaris	Weight loss	ORPHA:704
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
Wolfram Syndrome 1	Diabetes mellitus, Hypothyroidism, Diabetes insipidus, Testicular atrophy	OMIM:222300
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Ataxia, Head titubation, Kyphosis, Optic atrophy, Bronchiectasis, Dysmetria, Knee flexion contrac...	OMIM:619708
Pontocerebellar Hypoplasia, Type 17	Paroxysmal dystonia, Ventricular septal defect, Secundum atrial septal defect, Kyphosis, Limb hyp...	OMIM:619909
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Flexion contracture, Cachexia, Weight loss	ORPHA:1979
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Decreased circulating renin level	ORPHA:231632
Kleefstra Syndrome 2	Kyphosis, Scoliosis	OMIM:617768
Hereditary Fructose Intolerance	Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Chest pain, Weight loss	ORPHA:79127
Thanatophoric Dysplasia	Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Low-set ears, Atrial septal defect...	ORPHA:2655
Ruvalcaba Syndrome	Cryptorchidism, Kyphosis, Scoliosis	OMIM:180870
Familial Hyperaldosteronism Type Ii	Hypokalemia	ORPHA:404
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abdominal pain, Myalgia, Weight loss	ORPHA:54251
Snakebite Envenomation	Pain, Rhabdomyolysis, Muscle fiber necrosis	ORPHA:449285
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Kyphosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Emotio...	OMIM:219090
African Trypanosomiasis	Urinary incontinence, Tremor, Impaired proprioception, Choreoathetosis, Arthralgia, Conjunctiviti...	ORPHA:3385
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Tremor, Kyphosis, Complete atrioventricular canal defect, Gait ataxia, Atte...	ORPHA:476126
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Posteriorly rotated ears, Kyphosis, Optic atrophy, Contractures of ...	OMIM:617527
Infantile Nephropathic Cystinosis	Hypokalemia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Hypophosphatemia	ORPHA:411629
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Posteriorly rotated ears, Camptodactyly of finger, Secundum atrial septal defect, Cryptorchidism,...	OMIM:619951
Q Fever	Fatigue, Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Maculopapular exanthema, P...	ORPHA:781
Thymoma	Myositis, Glomerulonephritis, Night sweats, Ulcerative colitis, Weight loss, Chest pain, Myalgia,...	ORPHA:99867
Congenital Disorder Of Glycosylation, Type Ia	Pericarditis, Ataxia, Pericardial effusion, Kyphosis, Tremor, Flexion contracture, Macrotia, Dysm...	OMIM:212065
Cystinosis, Nephropathic	Male infertility, Hyponatremia, Diabetes mellitus, Hypomagnesemia, Reduced blood urea nitrogen, H...	OMIM:219800
Ménétrier Disease	Abdominal pain, Asthenia, Weight loss	ORPHA:2494
Primary Myelofibrosis	Fatigue, Flank pain, Constitutional symptom, Cachexia	ORPHA:824
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Small for gestational age, Kyphoscoliosis, Kyphosis, Premature osteoarthritis, Elbow flexion cont...	ORPHA:93360
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Ataxia, Kyphosis, Optic atrophy, Platyspondyly, Cognitive impairment, D...	OMIM:618476
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Slender build, Scoliosis	OMIM:300676
Poems Syndrome	Fatigue, Papilledema, Pericardial effusion, Weight loss, Paresthesia, Hyperesthesia, Pain, Sclero...	ORPHA:2905
Wild Type Attr Amyloidosis	Bowel incontinence, Weight loss, Abnormal autonomic nervous system physiology, Autonomic bladder ...	ORPHA:330001
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Congenital muscular torticollis, Posteriorly rotated ears, Camptodactyly...	ORPHA:2215
East Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:199343
Shashi-Pena Syndrome	Posteriorly rotated ears, Kyphosis, Cupped ear, Scoliosis, Low-set ears, Atrial septal defect, Ce...	OMIM:617190
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Pyomyositis	Recurrent cutaneous abscess formation, Myositis, Sudden cardiac death, Weight loss, Myalgia, Test...	ORPHA:764
Hypomelanosis Of Ito	Kyphosis, Scoliosis	OMIM:300337
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c...	ORPHA:168558
Oligomeganephronia	Elevated circulating creatinine concentration	ORPHA:2260
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Hyperkalemia	ORPHA:293978
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis, Abnormal pinna morphology, Low-set ears	ORPHA:77300
Immunodeficiency 31C	Fatigue, Skeletal muscle atrophy, Osteomyelitis, Eczema, Bronchiectasis, Chronic mucocutaneous ca...	OMIM:614162
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Bicuspid aortic valve, Abnormal curvature of the vertebral column, Protruding ear, Oti...	OMIM:619475
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weight loss, Tubulointerstitial nephriti...	ORPHA:139402
Igg4-Related Aortitis	Abdominal pain, Low back pain, Weight loss	ORPHA:449400
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c...	ORPHA:289548
Dent Disease 1	Hypophosphatemia	OMIM:300009
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Sensorineural hearing impairment, Increased muscle lipid co...	ORPHA:565612
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Multiple joint contractures, Small for gestational age, Ventricular septal def...	ORPHA:464306
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Calcification of the auricular cartilage, Bilateral cryptorchidism, Kyphosis, Fl...	ORPHA:3042
Carney-Stratakis Syndrome	Abdominal pain, Weight loss	ORPHA:97286
Hurler Syndrome	Progressive neurologic deterioration, Short neck, Hypoplasia of the odontoid process, Kyphosis, F...	OMIM:607014
Noonan Syndrome 14	Scapular winging, Posteriorly rotated ears, Short neck, Cryptorchidism, Kyphosis, Mitral valve pr...	OMIM:619745
Riddle Syndrome	Ataxia, Pneumonia, Abdominal pain, Recurrent pneumonia, Weight loss, Arthritis, Gait disturbance,...	ORPHA:420741
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Magel2-Related Prader-Willi-Like Syndrome	Impaired temperature sensation, Cryptorchidism, Kyphosis, Flexion contracture, Increased body wei...	ORPHA:398069
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Protruding ear, Atrial septal defect, Spina bifida, H...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Protruding ear, Atrial septal defect, Spina bifida, H...	ORPHA:363958
Polycythemia Vera	Fatigue, Abdominal pain, Arthralgia, Weight loss	ORPHA:729
Marden-Walker Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Camptodactyly of finger, Dextrocardia, Poster...	ORPHA:2461
Congenital Tufting Enteropathy	Optic disc coloboma, Weight loss, Irritability, Arthritis, Punctate keratitis, Failure to thrive	ORPHA:92050
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Smith-Mccort Dysplasia 1	Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability...	OMIM:607326
Microphthalmia, Lenz Type	Low-set, posteriorly rotated ears, Camptodactyly of finger, Hyperlordosis, External ear malformat...	ORPHA:568
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Hyperkalemia	ORPHA:275761
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Kyphoscoliosis, Cardiom...	OMIM:300967
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Decreased circulating renin level	ORPHA:231580
Eosinophilic Gastroenteritis	Abdominal pain, Weight loss	ORPHA:2070
Erdheim-Chester Disease	Fatigue, Osteomyelitis, Ataxia, Abnormal pericardium morphology, Skin rash, Abdominal pain, Bone ...	ORPHA:35687
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Posteriorly rotated ears, Kyphoscoliosis, Kyphosis, Cryptorchidism, Se...	OMIM:301040
Plaa-Associated Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Exaggerated startle response, Kyphosis, Sensorineural hearing ...	ORPHA:521426
Harrod Syndrome	Cryptorchidism, Kyphosis, Protruding ear, Scoliosis, Failure to thrive	ORPHA:2115
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy, Cachexia, Kyphosis, Scoliosis, Abnormal mitral valve morphology	ORPHA:1969
Intellectual Developmental Disorder, Autosomal Dominant 57	Posteriorly rotated ears, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th ...	OMIM:618050
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Scoliosis	ORPHA:1858
Gallbladder Neuroendocrine Tumor	Chronic fatigue, Episodic abdominal pain, Weight loss	ORPHA:100086
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hyperparathyroidism, Hypoammonemia, Cryptorchidism, Hypophosphatemia, Abnormal circ...	ORPHA:534
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc...	ORPHA:3337
Renal Nutcracker Syndrome	Fatigue, Flank pain, Abdominal pain, Weight loss	ORPHA:71273
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Optic nerve hypoplasia, Cryptorchidism, Kyphosis, Dilated cardiomyopat...	ORPHA:261250
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Optic disc pallor, Progressive neurologic deterioration, Kyphosis, Condu...	ORPHA:90324
Pearson Syndrome	Hypoparathyroidism, Diabetes mellitus, Pancreatic fibrosis, Decreased response to growth hormone ...	ORPHA:699
Hereditary Pheochromocytoma-Paraganglioma	Fatigue, Pulsatile tinnitus, Tremor, Cranial nerve compression, Weight loss, Episodic abdominal p...	ORPHA:29072
Lymphoid Interstitial Pneumonia	Fatigue, Skin rash, Eczema, Bronchiectasis, Weight loss, Keratoconjunctivitis sicca, Rheumatoid a...	ORPHA:79128
Marfan Syndrome	Skeletal muscle atrophy, Mitral valve calcification, Arthralgia/arthritis, Chronic fatigue, Cache...	ORPHA:558
Bruck Syndrome	Arthrogryposis multiplex congenita, Platyspondyly, Kyphosis, Scoliosis	ORPHA:2771
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Hypophosphatemia	OMIM:104200
Malt Lymphoma	Fatigue, Abdominal pain, Weight loss	ORPHA:52417
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Cryptorchidism, Kyphosis, Protruding ear, Pulmonic stenosis, Camptodac...	OMIM:619123
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Aganglionic megacolon, Obesity, Attention deficit hyperactivity disorder	ORPHA:261222
Marshall-Smith Syndrome	Thoracic scoliosis, Bilateral cryptorchidism, Thoracic kyphosis, Aspiration pneumonia, Cervical c...	OMIM:602535
Foxg1 Syndrome Due To 14Q12 Microdeletion	Kyphosis, Protruding ear, Abnormal antihelix morphology, Macroglossia, Scoliosis	ORPHA:261144
19Q13.11 Microdeletion Syndrome	Ventricular septal defect, Cachexia, Cryptorchidism, Failure to thrive, Hearing impairment	ORPHA:217346
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia	OMIM:613090
Paroxysmal Nocturnal Hemoglobinuria	Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood...	ORPHA:447
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple, Large for gestational age	OMIM:618272
Alkaptonuria	Low back pain, Vertebral fusion, Mitral valve calcification, Diminished physical functioning, Kyp...	OMIM:203500
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Trisomy 18	Low-set, posteriorly rotated ears, Ventricular septal defect, Camptodactyly of finger, Cachexia, ...	ORPHA:3380
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Brachyolmia Type 3	Short neck, Spinal cord compression, Kyphosis, Platyspondyly, Scoliosis	OMIM:113500
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Psoriasiform dermatitis, Failure to thrive in infancy, Eczema, Cachexia, Pneumonia, Ost...	ORPHA:37042
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis, Depression, Truncal obesity, Mental deterioration, Emotional lability, Pancreatitis	OMIM:610475
Nocardiosis	Fatigue, Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Keratitis, Lymp...	ORPHA:31204
Difference Of Sex Development-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Short neck, Kyphosis, Microtia, Severe sensorineural hearing i...	ORPHA:2983
Mosaic Trisomy 20	Vertebral fusion, Ventricular septal defect, Cryptorchidism, Kyphosis, Dysplastic tricuspid valve...	ORPHA:1724
Granulomatosis With Polyangiitis	Fatigue, Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Asthenia, Myalgia, Conjunctivi...	OMIM:608710
15Q14 Microdeletion Syndrome	Ventricular septal defect, Acne, Kyphosis, Scoliosis, Low-set ears, Atrial septal defect	ORPHA:261190
Familial Hyperaldosteronism Type Iii	Hypokalemia	ORPHA:251274
Fountain Syndrome	Spina bifida, Kyphosis, Sensorineural hearing impairment, Abnormal form of the vertebral bodies, ...	ORPHA:3219
Cohen Syndrome	Failure to thrive in infancy, Ventricular septal defect, Cryptorchidism, Kyphosis, Aplasia/Hypopl...	ORPHA:193
Lesch-Nyhan Syndrome	Testicular atrophy, Hyperuricemia	OMIM:300322
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Memory impairment, Frontotemporal dementia, Amyotrophic lateral sclerosis, Dementia	OMIM:619132
Rett Syndrome, Congenital Variant	Kyphosis, Chorea, Protruding ear, Athetosis, Irritability, Scoliosis, Dystonia	OMIM:613454
Weismann-Netter Syndrome	Kyphosis, Horizontal sacrum, Scoliosis	OMIM:112350
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Pericardial effusion, Hepatitis, Atopic der...	OMIM:615846
Koolen-De Vries Syndrome	Vertebral fusion, Bicuspid aortic valve, Cryptorchidism, Kyphosis, Protruding ear, Vertebral segm...	ORPHA:96169
X-Linked Intellectual Disability, Snyder Type	Decreased muscle mass, Kyphoscoliosis, Asymmetry of the ears, Cryptorchidism, Kyphosis, Unsteady ...	ORPHA:3063
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Short neck, Flexion contracture, Irregular vertebral endplates, Arthralgia, Waddling gait, Lumbar...	OMIM:143095
Achondroplasia	Lumbar hyperlordosis, Hearing impairment, Kyphosis, Spinal canal stenosis, Obesity, Thoracolumbar...	ORPHA:15
Castleman Disease	Fatigue, Abdominal pain, Flank pain, Weight loss, Constitutional symptom	ORPHA:160
Hurler-Scheie Syndrome	Camptodactyly of finger, Thenar muscle atrophy, Contracture of the distal interphalangeal joint o...	OMIM:607015
Reactive Arthritis	Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Weight loss, Enthesitis, Arthritis, Inflamm...	ORPHA:29207
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Decreased circulating renin level	ORPHA:231625
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Scoliosis	OMIM:259440
Cowden Syndrome 5	Kyphosis, Thyroiditis, Hydrocele testis, Scoliosis, Intention tremor, Hearing impairment	OMIM:615108
Dyggve-Melchior-Clausen Disease	Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl...	OMIM:223800
Ruvalcaba Syndrome	Cryptorchidism, Kyphosis, Scoliosis, Abnormal vertebral epiphysis morphology	ORPHA:3121
Prader-Willi Syndrome	Decreased muscle mass, Failure to thrive in infancy, Impaired pain sensation, Cryptorchidism, Kyp...	OMIM:176270
3M Syndrome	Scapular winging, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Protruding ear...	ORPHA:2616
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	ORPHA:320
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hyperkalemia, Hypocalcemia	ORPHA:544482
3-Hydroxy-3-Methylglutaric Aciduria	Fatigue, Acute pancreatitis, Ataxia, Dilated cardiomyopathy, Weight loss	ORPHA:20
Aredyld Syndrome	Low-set, posteriorly rotated ears, Cachexia, Abnormal tragus morphology, Scoliosis	ORPHA:1133
Isolated Permanent Neonatal Diabetes Mellitus	Ataxia, Abnormal heart morphology, Weight loss, Lower-limb joint contracture, Arthrogryposis mult...	ORPHA:99885
Primary Hepatic Neuroendocrine Carcinoma	Night sweats, Chronic fatigue, Episodic abdominal pain, Weight loss	ORPHA:100085
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short neck, Kyphosis, Cupped ear, Hemivertebrae, Overfolded helix, Contracture of the proximal in...	OMIM:618223
Familial Pancreatic Carcinoma	Back pain, Abdominal pain, Chronic fatigue, Weight loss	ORPHA:1333
Tetrasomy 12P	Cachexia	ORPHA:884
Alstrom Syndrome	Chronic active hepatitis, Kyphosis, Dilated cardiomyopathy, Recurrent pneumonia, Truncal obesity,...	OMIM:203800
Granulomatosis With Polyangiitis	Fatigue, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Abdominal pain, Pro...	ORPHA:900
Systemic Mastocytosis With Associated Hematologic Neoplasm	Fatigue, Abdominal pain, Bone pain, Weight loss, Arthralgia, Myalgia	ORPHA:98849
Acro-Renal-Mandibular Syndrome	Low-set, posteriorly rotated ears, Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemiver...	ORPHA:958
Cockayne Syndrome A	Hip contracture, Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decrease...	OMIM:216400
Holt-Oram Syndrome	Ventricular septal defect, Kyphosis, Anomalous pulmonary venous return, Hypoplastic left heart, S...	ORPHA:392
Thymic Neuroendocrine Tumor	Chest pain, Weight loss	ORPHA:97289
Cowden Syndrome 6	Kyphosis, Thyroiditis, Hydrocele testis, Scoliosis, Intention tremor, Hearing impairment	OMIM:615109
Acrodermatitis Enteropathica	Pustule, Cheilitis, Weight loss, Conjunctivitis, Emotional lability, Failure to thrive, Blepharitis	ORPHA:37
Medullary Thyroid Carcinoma	Weight loss	ORPHA:1332
2Q31.1 Microdeletion Syndrome	Ventricular septal defect, Camptodactyly of finger, Short neck, Cryptorchidism, Kyphosis, Optic d...	ORPHA:251014
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Ataxia, Confusion, Cachexia, Skin rash, Optic atrophy, Hearing impairment	ORPHA:220295
Osteogenesis Imperfecta	Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal form of the vertebral...	ORPHA:666
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin...	ORPHA:99826
Secondary Short Bowel Syndrome	Failure to thrive, Weight loss	ORPHA:95427
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Kyphosis, Inability to walk, Recurrent pneumonia, Scoliosis, Difficult...	ORPHA:464738
Raine Syndrome	Hypophosphatemia	OMIM:259775
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Hypoplastic right heart, Ventricular septal defect, Short neck, Cryptorchidism, Ky...	OMIM:616894
Stickler Syndrome	Skeletal muscle atrophy, Cachexia, Kyphosis, Osteoarthritis, Sensorineural hearing impairment, Bo...	ORPHA:828
Gm1-Gangliosidosis, Type I	Abnormal heart valve morphology, Short neck, Kyphosis, Dilated cardiomyopathy, Hypoplastic verteb...	OMIM:230500
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypokalemia, Decreased circulating renin level	OMIM:615474
Micro Syndrome	Low-set, posteriorly rotated ears, Cryptorchidism, Kyphosis, Optic atrophy, Scoliosis, Macrotia	ORPHA:2510
Budd-Chiari Syndrome	Abdominal pain, Weight loss	ORPHA:131
Pancreatoblastoma	Abdominal pain, Weight loss	ORPHA:677
Helix Syndrome	Hypokalemia, Hypermagnesemia	OMIM:617671
Bronchial Neuroendocrine Tumor	Pneumonia, Abnormal pulmonary valve cusp morphology, Night sweats, Weight loss, Chest pain	ORPHA:97287
Mend Syndrome	Sacral dimple, Abnormal auditory evoked potentials, Cryptorchidism, Kyphosis, Abnormal heart morp...	ORPHA:401973
Marfanoid Habitus With Situs Inversus	Situs inversus totalis, Kyphosis, Mitral valve prolapse, Pulmonic stenosis, Scoliosis	OMIM:609008
Primary Sclerosing Cholangitis	Fatigue, Abdominal pain, Hepatitis, Uveitis, Depression, Weight loss, Ulcerative colitis, Thyroid...	ORPHA:171
Mercury Poisoning	Hypokalemia	ORPHA:330021
Wolman Disease	Cachexia	ORPHA:75233
Neuroendocrine Tumor Of The Colon	Abdominal pain, Weight loss	ORPHA:100080
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
Trisomy 9P	Sacral dimple, Short neck, Kyphosis, Protruding ear, Scoliosis, Macrotia	ORPHA:236
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia	OMIM:174900
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Hypokalemia, Aminoaciduria, Hypocalcemia	OMIM:617913
Megalocornea-Intellectual Disability Syndrome	Ataxia, Kyphosis, Sensorineural hearing impairment, Protruding ear, Scoliosis	ORPHA:2479
Amoebiasis Due To Entamoeba Histolytica	Abnormal pericardium morphology, Abdominal pain, Weight loss, Chest pain, Constrictive pericardit...	ORPHA:67
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Cachexia, Myopathy, Scoliosis, Macrotia, Hashimoto thyroiditis	ORPHA:109
Glycogen Storage Disease Xii	Short neck, Myopathy, Cholecystitis, Increased variability in muscle fiber diameter, Muscle fiber...	OMIM:611881
Pancreatic Triacylglycerol Lipase Deficiency	Fatigue, Abdominal pain, Weight loss	ORPHA:309031
Adrenocortical Carcinoma	Abdominal pain, Increased body weight, Weight loss	ORPHA:1501
Dysostosis, Stanescu Type	Hyperlordosis, Short neck, Kyphosis, Macroglossia, Scoliosis	ORPHA:1798
Cowden Syndrome 1	Kyphosis, Thyroiditis, Hydrocele testis, Scoliosis, Intention tremor, Hearing impairment	OMIM:158350
Weaver Syndrome	Diastasis recti, Cryptorchidism, Kyphosis, Macrotia, Hydrocele testis, Scoliosis, Camptodactyly, ...	OMIM:277590
1P36 Deletion Syndrome	Low-set, posteriorly rotated ears, Abnormal heart valve morphology, Camptodactyly of finger, Cryp...	ORPHA:1606
Classical-Like Ehlers-Danlos Syndrome Type 2	Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Impaired temperature sensation, Pericardial ef...	ORPHA:536532
Spondyloenchondrodysplasia	Skin rash, Pneumonia, Kyphosis, Chorea, Hepatitis, Arthritis, Platyspondyly, Myalgia, Juvenile rh...	ORPHA:1855
Marfanoid-Progeroid-Lipodystrophy Syndrome	Scapular winging, Kyphosis, Dural ectasia, Mitral valve prolapse, Keratoconjunctivitis sicca	OMIM:616914
Fanconi Anemia	Aganglionic megacolon, Spina bifida, External ear malformation, Cryptorchidism, Tetralogy of Fall...	ORPHA:84
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Uplifted earlobe, Kyphosis, Recurrent pneumonia, Scoliosis, Low-set ea...	OMIM:616449
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia	ORPHA:369929
Frank-Ter Haar Syndrome	Ventricular septal defect, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Acne, Secund...	OMIM:249420
Thanatophoric Dysplasia Type 1	Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Atrial septal defect, Hearing impa...	ORPHA:1860
Osteootohepatoenteric Syndrome	Abdominal pain, Failure to thrive, Weight loss	OMIM:619377
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Mitral valve calcification, Broad-based gait, Cachexia, Aortic valve calcification, ...	ORPHA:2072
Autosomal Recessive Robinow Syndrome	Low-set, posteriorly rotated ears, Sacral dimple, Ventricular septal defect, Camptodactyly of fin...	ORPHA:1507
Beta-Ketothiolase Deficiency	Body odor, Ataxia, Weight loss	ORPHA:134
Pneumocystosis	Acute infectious pneumonia, Chronic oral candidiasis, Interstitial pneumonitis, Weight loss	ORPHA:723
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Large ...	ORPHA:457359
Bartter Syndrome, Type 3	Hyperchloriduria, Hypokalemia, Increased circulating renin level	OMIM:607364
Pycnodysostosis	Hyperlordosis, Overweight, Kyphosis, Chronic pain, Mild conductive hearing impairment, Spondyloly...	ORPHA:763
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperlipidemia, Hyperkalemia	ORPHA:293987
Dermatomyositis	Fatigue, Pericarditis, Myocarditis, Weight loss, Inflammatory myopathy, Arthritis, Arthralgia, My...	ORPHA:221
Williams Syndrome	Bicuspid aortic valve, Cardiomegaly, Tremor, Abnormal form of the vertebral bodies, Dysmetria, Pr...	ORPHA:904
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration	ORPHA:93126
Multiple Endocrine Neoplasia, Type Iib	Aganglionic megacolon, Failure to thrive in infancy, Hyperlordosis, Kyphosis, Myopathy, Scoliosis	OMIM:162300
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia	OMIM:229600
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small hypothenar eminence, Lumbar hyperlordosis, Thenar muscle atrophy, Non-obstructive azoosperm...	ORPHA:2232
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Attached earlobe, Hip contracture, Posteriorly rotated ears, Short neck, Prominent crus of helix,...	OMIM:619194
Stevens-Johnson Syndrome	Fatigue, Sudden cardiac death, Abdominal pain, Weight loss, Conjunctivitis, Abnormal myocardium m...	ORPHA:36426
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:612780
Weismann-Netter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3344
Tropical Pancreatitis	Epigastric pain, Weight loss	ORPHA:103918
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Osteogenesis Imperfecta, Type Iii	Kyphosis, Biconcave vertebral bodies, Scoliosis, Hearing impairment	OMIM:259420
Neuroendocrine Tumor Of The Rectum	Abdominal pain, Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Abdominal pain, Weight loss	ORPHA:100082
Friedreich Ataxia	Hypertrophic cardiomyopathy, Decreased pyruvate carboxylase activity	OMIM:229300
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Impaired pain sensation, Cryptorchidism, Kyphosis, Attention deficit hyperactivity disorder, Scol...	OMIM:619005
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Dyspepsia, Weight loss, Chest pain, Precordial pain, Failure to thrive	ORPHA:1018
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Sacral dimple, Broad-based gait, Small for gestational age, Failure to thrive in infancy, Ventric...	ORPHA:268261
Toxic Epidermal Necrolysis	Fatigue, Sudden cardiac death, Abdominal pain, Weight loss, Conjunctivitis, Abnormal myocardium m...	ORPHA:537
Cockayne Syndrome B	Small for gestational age, Ataxia, Abnormal auditory evoked potentials, Abnormal pinna morphology...	OMIM:133540
Insulin-Resistance Syndrome Type B	Fatigue, Skin rash, Abnormality of body weight, Pneumonia, Osteoarthritis, Increased body weight,...	ORPHA:2298
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Lumbar hyperlordosis, Urinary incontinence, Bowel incontinence, Kyphosis, Platyspondyly, Recurren...	OMIM:616482
Atelis Syndrome 2	Sacral dimple, Kyphosis, Dysmetria, Supravalvar pulmonary stenosis, Protruding ear, Pulmonic sten...	OMIM:620185
Primary Intestinal Lymphangiectasia	Abdominal pain, Weight loss	ORPHA:90362
Kikuchi-Fujimoto Disease	Fatigue, Ataxia, Skin rash, Pustule, Myocarditis, Night sweats, Weight loss, Arthralgia, Myalgia,...	ORPHA:50918
Short Syndrome	Weight loss	ORPHA:3163
Nijmegen Breakage Syndrome	Skeletal muscle atrophy, Cachexia, Rhabdomyosarcoma, Short neck, Recurrent pneumonia, Attention d...	ORPHA:647
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Increased endomysial connective tissue, Flexion contracture, Optic atrophy, Muscular dystrophy	OMIM:613154
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Kyphosis, Abnormal antihelix morphology, Vertebral segmentatio...	ORPHA:1005
Spondyloarthropathy, Susceptibility To, 1	Back pain, Anterior uveitis, Psoriasiform dermatitis, Kyphosis, Oligoarthritis, Enthesitis, Sacro...	OMIM:106300
Gaucher Disease Type 1	Abdominal pain, Pericardial effusion, Kyphosis, Osteoarthritis, Bone pain, Abnormal myocardium mo...	ORPHA:77259
Pigmented Nodular Adrenocortical Disease, Primary, 1	Kyphosis, Depression, Truncal obesity, Mental deterioration, Emotional lability	OMIM:610489
Xfe Progeroid Syndrome	Cachexia, Optic atrophy, Scoliosis, Failure to thrive, Hearing impairment	OMIM:610965
Mgat2-Cdg	Low-set, posteriorly rotated ears, Ventricular septal defect, Posteriorly rotated ears, Kyphosis,...	ORPHA:79329
Imerslund-Gräsbeck Syndrome	Failure to thrive, Weight loss	ORPHA:35858
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia	ORPHA:289176
Hajdu-Cheney Syndrome	Mitral stenosis, Ventricular septal defect, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosi...	ORPHA:955
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Cryptorchidism, Kyphosis, Low-set ears	OMIM:619244
Dent Disease	Renal hypophosphatemia, Elevated circulating creatine kinase concentration	ORPHA:1652
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Hyperkalemia, Hypochloremia	ORPHA:90794
Smith-Lemli-Opitz Syndrome	Low-set, posteriorly rotated ears, Aganglionic megacolon, Ventricular septal defect, Congenital d...	ORPHA:818
Poland Syndrome	Dextrocardia, Congenital diaphragmatic hernia, Short neck, Cryptorchidism, Kyphosis, Aplasia of t...	ORPHA:2911
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Aganglionic megacolon, Camptodactyly of finger, Eczema, Keratitis, Cryptorchidism, ...	ORPHA:2273
Goodpasture Syndrome	Increased blood urea nitrogen	OMIM:233450
Monosomy 9Q22.3	Rhabdomyosarcoma, Large for gestational age, Short neck, Kyphosis, Cardiac fibroma, Abnormality o...	ORPHA:77301
Wolf-Hirschhorn Syndrome	Vertebral fusion, Decreased muscle mass, Sacral dimple, Small for gestational age, Ventricular se...	OMIM:194190
Chromosome Xq26.3 Duplication Syndrome	Ventricular hypertrophy, Body odor, Arthralgia, Kyphosis	OMIM:300942
Familial Thrombocytosis	Chest pain, Weight loss	ORPHA:71493
Igg4-Related Dacryoadenitis And Sialadenitis	Fatigue, Myositis, Thyroiditis, Weight loss, Tubulointerstitial nephritis, Abnormality of the ext...	ORPHA:79078
Hermansky-Pudlak Syndrome	Fatigue, Abdominal pain, Weight loss	ORPHA:79430
Acromegaly	Fatigue, Acne, Kyphosis, Osteoarthritis, Spinal canal stenosis, Depression, Macroglossia, Arthral...	ORPHA:963
Autosomal Recessive Malignant Osteopetrosis	Hypocalcemia, Hypophosphatemia	ORPHA:667
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Bone pain, Hemivertebrae, Abn...	ORPHA:2062
Igg4-Related Kidney Disease	Fatigue, Pericarditis, Inflammatory abnormality of the skin, Abdominal pain, Lymphadenitis, Urina...	ORPHA:449395
Seckel Syndrome	Cachexia, Abnormal earlobe morphology, Cognitive impairment, Scoliosis, Absent earlobe	ORPHA:808
Cowden Syndrome	Ataxia, Kyphosis, Macroglossia, Cognitive impairment, Scoliosis, Failure to thrive, Hearing impai...	ORPHA:201
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Ileal Neuroendocrine Tumor	Chronic fatigue, Episodic abdominal pain, Weight loss	ORPHA:100078
Cono-Spondylar Dysplasia	Short neck, Kyphosis, Low-set ears, Scoliosis, Failure to thrive	ORPHA:420794
Caroli Disease	Chills, Abdominal pain, Abdominal rigidity, Weight loss	ORPHA:53035
Gitelman Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:263800
Pulmonary Alveolar Microlithiasis	Fatigue, Mitral valve calcification, Bronchiectasis, Weight loss, Chest pain, Testicular microlit...	ORPHA:60025
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Posteriorly rotated ears, Large for gestational age, Hyperlordosis, Kyphosis, Gait ataxia, Scolio...	OMIM:617011
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Kyphosis, Bilateral camptodactyly, Protruding ear, Scoliosis, Absent earlobe, Hearing impairment	OMIM:619557
Somatomammotropinoma	Fatigue, Kyphosis, Osteoarthritis, Spinal canal stenosis, Depression, Macroglossia, Arthralgia, P...	ORPHA:314769
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In...	OMIM:601678
Yellow Fever	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration...	ORPHA:99829
X-Linked Hypophosphatemia	Hypophosphatemia	ORPHA:89936
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia	OMIM:602522
Spondyloperipheral Dysplasia	Ovoid vertebral bodies, Short neck, Kyphosis, Sensorineural hearing impairment, Irregular vertebr...	OMIM:271700
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyly, Kyphosis,...	OMIM:618019
Tubulointerstitial Nephritis And Uveitis Syndrome	Fatigue, Papilledema, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Abdominal pain, Flan...	ORPHA:91500
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	ORPHA:90795
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Decreased methylmalonyl-CoA mutase activity	OMIM:277410
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Weight loss, Arthritis, Inflammat...	OMIM:301074
Hutchinson-Gilford Progeria Syndrome	Ventricular hypertrophy, High-frequency sensorineural hearing impairment, Mitral valve calcificat...	ORPHA:740
Cushing Syndrome Due To Ectopic Acth Secretion	Acne, Increased body weight, Recurrent cutaneous fungal infections, Weight loss, Proximal amyotro...	ORPHA:99889
Bartter Syndrome Type 4	Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:89938
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Short neck, Kyphosis, Low-set ears, Scoliosis, Hearing impair...	ORPHA:140
Mend Syndrome	Sacral dimple, Posteriorly rotated ears, Cryptorchidism, Kyphosis, Overfolded helix, Low-set ears...	OMIM:300960
Andersen Cardiodysrhythmic Periodic Paralysis	Hypokalemia	OMIM:170390
Zttk Syndrome	Ventricular septal defect, Kyphosis, Flexion contracture, Optic atrophy, Hemivertebrae, Protrudin...	OMIM:617140
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Coffin-Siris Syndrome 1	Sacral dimple, Ventricular septal defect, Abnormal pinna morphology, Congenital diaphragmatic her...	OMIM:135900
Singleton-Merten Syndrome 1	Waddling gait, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular ...	OMIM:182250
Glucagonoma	Skin rash, Chronic fatigue, Depression, Weight loss, Episodic abdominal pain, Stomatitis	ORPHA:97280
Primrose Syndrome	Hip contracture, Skeletal muscle atrophy, Calcification of the auricular cartilage, Ataxia, Bilat...	OMIM:259050
Cole-Carpenter Syndrome 2	Kyphosis, Platyspondyly	OMIM:616294
Steinert Myotonic Dystrophy	Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g...	ORPHA:273
Neuroendocrine Tumor Of Stomach	Episodic abdominal pain, Weight loss	ORPHA:100075
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Abdominal pain, Gastritis, Bronch...	OMIM:619381
Somatostatinoma	Chronic fatigue, Episodic abdominal pain, Weight loss	ORPHA:97283
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	OMIM:202010
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Hyperkalemia, Decreased circulating renin level	OMIM:201750
Sarcoidosis, Susceptibility To, 1	Optic neuropathy, Pericardial effusion, Iridocyclitis, Bronchiectasis, Uveitis, Weight loss, Arth...	OMIM:181000
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis, Mitral valve prolapse	OMIM:177850
Rabson-Mendenhall Syndrome	Hypokalemia, Increased C-peptide level	ORPHA:769
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	ORPHA:90793
Aspartylglucosaminuria	Acne, Kyphosis, Macroglossia, Platyspondyly, Spondylolysis, Scoliosis, Macroorchidism, Beaking of...	OMIM:208400
Wrinkly Skin Syndrome	Scapular winging, Hypoplasia of the musculature, Cryptorchidism, Kyphosis, Muscular ventricular s...	OMIM:278250
Vipoma	Chronic fatigue, Episodic abdominal pain, Weight loss	ORPHA:97282
Methylmalonic Aciduria, Cblb Type	Decreased methylmalonyl-CoA mutase activity	OMIM:251110
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Hearing impairment	OMIM:166220
Neurofibromatosis Type 1	Ataxia, Cryptorchidism, Kyphosis, Paresthesia, Attention deficit hyperactivity disorder, Scoliosi...	ORPHA:636
Cole-Carpenter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2050
Chronic Graft Versus Host Disease	Fasciitis, Abdominal pain, Urinary bladder inflammation, Flexion contracture, Bronchiectasis, Wei...	ORPHA:99921
Tsh-Secreting Pituitary Adenoma	Fatigue, Pericardial effusion, Tremor, Weight loss	ORPHA:91347
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia	OMIM:618426
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating...	OMIM:619534
Anemia, Congenital Dyserythropoietic, Type Iv	Weight loss	OMIM:613673
Lenz-Majewski Hyperostotic Dwarfism	Facial palsy, Cryptorchidism, Kyphosis, Scoliosis, Macrotia	ORPHA:2658
Proteus Syndrome	Decreased muscle mass, Sudden cardiac death, Testicular neoplasm, Cachexia, Kyphosis, Abnormal fo...	ORPHA:744
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula...	OMIM:241200
17Q11 Microdeletion Syndrome	Short attention span, Rhabdomyosarcoma, Kyphosis, Abnormal heart morphology, Memory impairment, D...	ORPHA:97685
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617821
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Urinary incontinence, Kyphosis, Difficulty walking, Scoliosis, Aspiration pneumonia	OMIM:619482
Sarcoidosis	Fatigue, Maculopapular exanthema, Facial palsy, Erythema nodosum, Bronchiectasis, Uveitis, Weight...	ORPHA:797
Norrie Disease	Cachexia, Cryptorchidism, Macrotia, Sensorineural hearing impairment, Optic atrophy, Protruding e...	ORPHA:649
Turner Syndrome Due To Structural X Chromosome Anomalies	Failure to thrive in infancy, Bicuspid aortic valve, Short neck, External ear malformation, Kypho...	ORPHA:99413
Mosaic Monosomy X	Failure to thrive in infancy, Bicuspid aortic valve, Short neck, External ear malformation, Kypho...	ORPHA:99228
Monosomy X	Failure to thrive in infancy, Bicuspid aortic valve, Short neck, External ear malformation, Kypho...	ORPHA:99226
Sotos Syndrome	Hip contracture, Sacrococcygeal teratoma, Aganglionic megacolon, Ventricular septal defect, Ankle...	ORPHA:821
Turner Syndrome	Failure to thrive in infancy, Bicuspid aortic valve, Short neck, External ear malformation, Kypho...	ORPHA:881
Distal Renal Tubular Acidosis	Aminoaciduria, Hypokalemia	ORPHA:18
Orofaciodigital Syndrome Iii	Kyphosis, Low-set ears	OMIM:258850
Ramon Syndrome	Optic disc pallor, Kyphosis, Scoliosis, Decreased body weight, Juvenile rheumatoid arthritis, Hea...	OMIM:266270
Methylmalonic Aciduria, Cbla Type	Decreased methylmalonyl-CoA mutase activity	OMIM:251100
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Cryptorchidism, Kyphosis, Scoliosis	OMIM:619718
Multiple Endocrine Neoplasia Type 1	Short attention span, Confusion, Abdominal pain, Cranial nerve compression, Weight loss, Depressi...	ORPHA:652
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebra...	OMIM:259770
Juvenile Polyposis Of Infancy	Cachexia, Abdominal pain, Abnormal heart morphology, Low-set ears, Atrial septal defect	ORPHA:79076
Ppoma	Episodic abdominal pain, Weight loss	ORPHA:97278
Cerebrocostomandibular Syndrome	Ventricular septal defect, Spina bifida, Kyphosis, Atresia of the external auditory canal, Conduc...	ORPHA:1393
Cleidocranial Dysplasia 1	Hearing impairment, Kyphosis, Syringomyelia, Spondylolysis, Scoliosis, Spondylolisthesis	OMIM:119600
Friedreich Ataxia 2	Decreased pyruvate carboxylase activity, Muscular subvalvular aortic stenosis, Concentric hypertr...	OMIM:601992
Gitelman Syndrome	Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia	ORPHA:358
Generalized Glucocorticoid Resistance Syndrome	Hypokalemia	ORPHA:786
Nelson Syndrome	Hypokalemia	ORPHA:199244
Lymphedema-Distichiasis Syndrome	Conjunctivitis, Kyphosis, Tetralogy of Fallot, Ventricular septal defect	OMIM:153400
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Camptodactyly of finger, Cryptorchidism, Kyphosis, Platyspondyly, Scoliosis, J...	OMIM:309000
Proximal Renal Tubular Acidosis	Hypokalemia, Aminoaciduria, Bicarbonaturia	ORPHA:47159
Familial Osteodysplasia, Anderson Type	Kyphosis, Abnormal earlobe morphology, Abnormal form of the vertebral bodies, Large earlobe, Scol...	ORPHA:2769
Immunodeficiency 87 And Autoimmunity	Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration	OMIM:619573
Cdags Syndrome	Kyphosis, Sensorineural hearing impairment	OMIM:603116
Tropical Endomyocardial Fibrosis	Fatigue, Right ventricular cardiomyopathy, Left atrial enlargement, Cachexia, Cardiomegaly, Myoca...	ORPHA:75565
Zollinger-Ellison Syndrome	Episodic abdominal pain, Weight loss	ORPHA:913
Osteogenesis Imperfecta, Type Viii	Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis	OMIM:610915
Grfoma	Episodic abdominal pain, Weight loss	ORPHA:97261
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Decreased methylmalonyl-CoA mutase activity	OMIM:277400
Viss Syndrome	Chronic gastritis, Right ventricular dilatation, Atrial septal defect, Patent foramen ovale, Coro...	OMIM:619472
Scorpion Envenomation	Hypokalemia, Increased circulating NT-proBNP concentration, Increased circulating creatine kinase...	ORPHA:466677
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis, Sensorineural hearing impairment	OMIM:609944
Branchiooculofacial Syndrome	Posteriorly rotated ears, Facial palsy, Hyperlordosis, Short neck, Cryptorchidism, Kyphosis, Sens...	OMIM:113620
Classic Homocystinuria	Kyphosis, Optic atrophy, Scoliosis	ORPHA:394
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis, Eczema, Hearing impairment	ORPHA:85199
Shprintzen Omphalocele Syndrome	Kyphosis, Lumbar hyperlordosis, Scoliosis, Decreased body weight	OMIM:182210
Yunis-Varon Syndrome	Small for gestational age, Anterior concavity of thoracic vertebrae, Failure to thrive in infancy...	OMIM:216340
Coffin-Lowry Syndrome	Kyphosis, Sensorineural hearing impairment, Protruding ear, Lumbar kyphosis, Scoliosis, Decreased...	OMIM:303600
Alström Syndrome	Thoracic scoliosis, Urinary incontinence, Hypoplasia of the Leydig cells, Otitis media, Severe se...	ORPHA:64
Occipital Horn Syndrome	Kyphosis, Hepatitis, Platyspondyly, Esophagitis, Scoliosis	ORPHA:198
Leprechaunism	Hypokalemia, Increased circulating renin level	ORPHA:508
Occipital Horn Syndrome	Kyphosis, Orthostatic hypotension, Platyspondyly	OMIM:304150
Spondyloepimetaphyseal Dysplasia, X-Linked	Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi...	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.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Early death of ALS-linked CHCHD10-R15L transgenic mice with central nervous system, skeletal muscle, and cardiac pathology.	iScience (January 2021)	Chchd10^{tm1(KOMP)Vlcg}	PMC7890413

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

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

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data