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Gene: Myoz1 MGI:1929471

Gene Summary

Name:

myozenin 1

Synonyms:

calsarcin-2, FATZ, 2310001N11Rik

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
enlarged cecum	Myoz1^{tm1b(EUCOMM)Hmgu}	HOM	Late adult	0.00
decreased circulating creatinine level	Myoz1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.81×10^-05
increased marginal zone B cell number	Myoz1^{tm1b(EUCOMM)Hmgu}	HOM	Late adult	8.45×10^-05
enlarged seminal vesicle	Myoz1^{tm1b(EUCOMM)Hmgu}	HOM	Late adult	0.00
abnormal lean body mass	Myoz1^{tm1b(EUCOMM)Hmgu}	HOM	Late adult	6.20×10^-09
abnormal urination	Myoz1^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	7.70×10^-05
oligodactyly	Myoz1^{tm1a(EUCOMM)Hmgu}	HET	Early adult	2.24×10^-11
polycystic kidney	Myoz1^{tm1b(EUCOMM)Hmgu}	HOM	Late adult	0.00
abnormal body fat mass	Myoz1^{tm1b(EUCOMM)Hmgu}	HOM	Late adult	2.53×10^-08
decreased grip strength	Myoz1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.85×10^-06
abnormal lens morphology	Myoz1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.30×10^-08

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

26 Images

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Human diseases caused by Myoz1 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 Myoz1 (0 diseases)
Human diseases predicted to be associated with Myoz1 (651 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Myoz1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Digital Clubbing, Isolated Congenital	Clubbing	OMIM:119900
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology	ORPHA:2730
Tetramelic Monodactyly	Split hand, Oligodactyly	ORPHA:2564
Tendons, Extensor, Of Fingers, Anomalous Insertion Of	Abnormal finger morphology	OMIM:187390
Trigger Thumb	Abnormal thumb morphology	OMIM:190410
Acrorenal Syndrome	Hand oligodactyly	OMIM:102520
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Tetramelic Monodactyly	Split foot, Split hand, Foot monodactyly, Hand monodactyly	OMIM:187510
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle...	OMIM:618655
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant	Ectopia lentis	OMIM:129600
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Oligodactyly	ORPHA:2440
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ...	OMIM:618848
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact...	OMIM:183600
Polyglucosan Body Myopathy 2	Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we...	OMIM:616199
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Humeroradial synostosis, Arachnodactyly, Oligodactyly	OMIM:614416
Pierre Robin Syndrome And Oligodactyly	Hand oligodactyly	OMIM:172880
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Hypotonia, Increased ...	OMIM:613204
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P...	OMIM:601954
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Distal amyotrophy, Generalized hypotonia, Type 1 muscle fiber predominance, Incr...	OMIM:619042
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H...	ORPHA:178464
Inclusion Body Myositis	Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red...	ORPHA:611
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Bethlem Myopathy 2	Scapular winging, Flexion contracture, Hypotonia, Myopathy, Generalized hypotonia, Increased vari...	OMIM:616471
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Oculopharyngodistal Myopathy 2	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of...	OMIM:618940
Nonaka Myopathy	Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu...	OMIM:605820
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc...	ORPHA:266
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus...	OMIM:620286
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower...	OMIM:617030
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, H...	OMIM:617760
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I...	OMIM:117000
Spinal Muscular Atrophy, Type Iv	Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ...	OMIM:271150
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:619733
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Talipes equinovarus, Weakne...	OMIM:181400
Mitochondrial Myopathy With Diabetes	Facial palsy, Ragged-red muscle fibers, Hypotonia, Limb muscle weakness, Proximal amyotrophy, Gen...	OMIM:500002
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
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, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Hypotonia, Knee flexion contracture, ...	OMIM:616313
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Decreased body weigh...	OMIM:300580
Welander Distal Myopathy	Distal amyotrophy, Rimmed vacuoles	OMIM:604454
Rhabdomyolysis, Susceptibility To, 1	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,...	OMIM:620235
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d...	OMIM:609115
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Congenital Myopathy 18	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Hypotonia, Incr...	OMIM:620246
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca...	OMIM:608099
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi...	OMIM:620386
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk...	OMIM:254110
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno...	OMIM:618654
Myasthenic Syndrome, Congenital, 14	Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged...	OMIM:616228
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Myopathy, Autophagic Vacuolar, Infantile-Onset	Neonatal hypotonia, Myopathy, Autophagic vacuoles	OMIM:609500
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter	OMIM:302045
Myopathy, Distal, Tateyama Type	Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ...	OMIM:614321
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Failure to thrive in infancy, Spastic diplegia, Increased intramyocellular lipid droplets, Dyston...	OMIM:619065
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Nemaline bodies, Increased variability in muscle fiber diameter, Hypotonia, Generalized hypotonia...	OMIM:620265
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy...	OMIM:619178
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:...	OMIM:253601
Severe X-Linked Mitochondrial Encephalomyopathy	Skeletal muscle atrophy, Severe muscular hypotonia, Increased variability in muscle fiber diamete...	ORPHA:238329
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari...	OMIM:608807
Galactosemia Iv	Cataract, Hypergalactosemia	OMIM:618881
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi...	OMIM:300717
Bardet-Biedl Syndrome 10	Renal insufficiency, Hypogonadism, Obesity, Renal cyst	OMIM:615987
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl...	OMIM:618129
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter	ORPHA:1878
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Centrally nucleated skeletal muscle fibers, Flexion contracture, Hypot...	OMIM:618484
Congenital Myopathy 6 With Ophthalmoplegia	Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Generalized hy...	OMIM:605637
Robin Sequence-Oligodactyly Syndrome	Clinodactyly of the 5th finger, Hand oligodactyly, Abnormal morphology of ulna, Abnormal metacarp...	ORPHA:3104
Congenital Myopathy 10A, Severe Variant	Facial palsy, Camptodactyly of finger, Hypotonia, Increased variability in muscle fiber diameter,...	OMIM:614399
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S...	OMIM:300696
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
Cardiomyopathy, Dilated, 1X	Calf muscle hypertrophy, Increased variability in muscle fiber diameter	OMIM:611615
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated...	OMIM:616852
Myopathy, Myofibrillar, 5	Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting	OMIM:609524
Congenital Myopathy 14	Hip contracture, Flexion contracture, Elbow flexion contracture, Hypotonia, Increased variability...	OMIM:618414
Myopathy, Tubular Aggregate, 1	Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi...	OMIM:160565
Distal Myopathy With Anterior Tibial Onset	Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h...	ORPHA:178400
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
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc...	OMIM:619477
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Sandhoff Disease, Adult Form	Focal dystonia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Dystonia, Mu...	ORPHA:309169
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc...	OMIM:612999
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l...	ORPHA:603
Inclusion Body Myositis	Inflammatory myopathy, Rimmed vacuoles	OMIM:147421
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A...	OMIM:619566
Congenital Myopathy 3 With Rigid Spine	Failure to thrive, Decreased body weight, Facial palsy, Centrally nucleated skeletal muscle fiber...	OMIM:602771
Nemaline Myopathy 2	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Slender build, Thenar muscle atrophy, Fat...	OMIM:256030
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi...	OMIM:300718
Hypotonia, Infantile, With Psychomotor Retardation	Neonatal hypotonia, Myopathy, Severe muscular hypotonia, Increased variability in muscle fiber di...	OMIM:616816
Triphalangeal Thumbs With Brachyectrodactyly	Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly	OMIM:190680
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ...	OMIM:612937
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur...	OMIM:620068
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia...	ORPHA:2756
RCAD (renal cysts and diabetes)	Abnormality of the liver, Multiple renal cysts	DECIPHER:47
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Failure to thrive, Elbow ...	OMIM:620310
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes...	OMIM:616924
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter, Failure to thrive, Hypotonia	OMIM:613752
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne...	ORPHA:598
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo...	ORPHA:457050
Ullrich Congenital Muscular Dystrophy 2	Facial palsy, Flexion contracture, Neonatal hypotonia, Increased variability in muscle fiber diam...	OMIM:616470
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contr...	ORPHA:75840
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic...	OMIM:615382
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Hypotonia, Muscular dystroph...	OMIM:617066
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Split foot, Split hand, Hand monodactyly	OMIM:183800
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Pancreatic adenocarcinoma, Nephrolithiasis, Papillary renal cell carcinoma, ...	OMIM:145001
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased variability in...	ORPHA:86812
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t...	OMIM:617805
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist...	OMIM:619473
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl...	ORPHA:93320
Congenital Myopathy 15	Fatty replacement of skeletal muscle, Hypotonia, Increased variability in muscle fiber diameter, ...	OMIM:620161
Myopathy, Centronuclear, 4	Hypotonia, Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers	OMIM:614807
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ...	OMIM:603689
Combined Oxidative Phosphorylation Deficiency 31	Hypotonia, Hypertonia, Left ventricular noncompaction, Increased intramyocellular lipid droplets,...	OMIM:617228
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Colonic diverticula, Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,...	OMIM:615993
Adult-Onset Nemaline Myopathy	Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Type 1...	ORPHA:171442
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ...	ORPHA:93323
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi...	OMIM:253700
Mitochondrial Myopathy, Infantile, Transient	Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen...	OMIM:500009
Oculopharyngeal Muscular Dystrophy	Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology	ORPHA:270
Acrofacial Dysostosis Syndrome Of Rodriguez	Overlapping toe, Single transverse palmar crease, Fibular hypoplasia, Talipes equinovarus, Tripha...	OMIM:201170
Childhood-Onset Nemaline Myopathy	Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at...	ORPHA:171439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Lower limb spasticity, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Limb mus...	OMIM:613954
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic...	OMIM:608423
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Oculopharyngodistal Myopathy 4	Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ...	OMIM:619790
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox...	OMIM:614302
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Hypotonia, Inc...	OMIM:255320
Hypoalphalipoproteinemia, Primary, 2	Decreased HDL cholesterol concentration, Corneal arcus, Cataract	OMIM:618463
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Zebra Body Myopathy	Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr...	ORPHA:97240
Miyoshi Muscular Dystrophy 1	Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet...	OMIM:254130
X-Linked Centronuclear Myopathy	Severe muscular hypotonia, Centrally nucleated skeletal muscle fibers, Weakness of facial muscula...	ORPHA:596
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i...	OMIM:613157
Ectrodactyly-Polydactyly	Split hand, Postaxial hand polydactyly, Split foot	OMIM:225290
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi...	OMIM:618138
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f...	OMIM:618823
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617072
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Abnormality of the hand, Abnormality of the upper limb, Clinodactyly of the 3rd toe, Clinodactyly...	ORPHA:521308
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu...	OMIM:601846
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa...	OMIM:611705
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Increased variability in muscle fiber diameter, Hypotonia	OMIM:617915
Congenital Myopathy 10B, Mild Variant	Axial hypotonia, Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contrac...	OMIM:620249
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Limb muscle ...	ORPHA:486815
Hereditary Continuous Muscle Fiber Activity	Spastic gait, Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Congenital Myopathy 4A, Autosomal Dominant	Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Type 1 fibers r...	OMIM:255310
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c...	ORPHA:536516
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Bardet-Biedl Syndrome 4	External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Obesity, Renal cyst, Hypo...	OMIM:615982
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy	OMIM:609283
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy	OMIM:159050
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Myopathy, Spasticity, Ragged-red muscle fibers	OMIM:545000
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Hammertoe, Talipes equino...	OMIM:608340
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Severe muscular hypotonia, Spinal muscular atrophy, Flexion contracture,...	OMIM:616867
Meckel Syndrome 13	Flexion contracture, Polycystic kidney dysplasia	OMIM:617562
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers, Slender build...	OMIM:254090
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w...	ORPHA:353
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
Meckel Syndrome, Type 8	Cleft palate, Polycystic kidney dysplasia, Ambiguous genitalia, Hyperechogenic kidneys, Enlarged ...	OMIM:613885
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t...	ORPHA:3258
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
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Hyperbilirubinemia	OMIM:618660
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus...	OMIM:620138
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Campomelia, Cumming Type	Pancreatic cysts, Polycystic liver disease, Polysplenia, Polycystic kidney dysplasia	OMIM:211890
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Aplasia/Hypoplas...	ORPHA:1307
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Failure to thrive	OMIM:614096
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ...	OMIM:310440
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Infantile axial hypotonia, Hypotonia, Abnormal muscle fiber protein expression	ORPHA:330054
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Split hand, Intrinsic hand muscle atrophy, Amyotrophy of an...	ORPHA:399086
Myopathy, Distal, 3	Split hand, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contractur...	OMIM:610099
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil...	OMIM:619902
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Ragged-red muscle fibers, Axial hypotonia, Dystonia	OMIM:615159
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration, Corneal crystals	OMIM:219750
Muscular Dystrophy, Limb-Girdle, Type 1H	Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ...	OMIM:613530
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc...	OMIM:226670
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy, Hypot...	OMIM:607855
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Intestinal malrotation, Abnormality of the pancreas, Abnormal liver...	ORPHA:3032
Proximal Myopathy With Extrapyramidal Signs	Centrally nucleated skeletal muscle fibers, Dystonia, Progressive extrapyramidal muscular rigidit...	ORPHA:401768
Femoral-Facial Syndrome	Inguinal hernia, Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of k...	ORPHA:1988
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal...	OMIM:208540
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap...	OMIM:608358
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,...	OMIM:616812
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystrophy, Muscle fi...	OMIM:603511
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Myopathy, Spasticity, Increased variability in muscle fiber diameter	OMIM:125250
Myoclonus, Intractable, Neonatal	Increased variability in muscle fiber diameter, Hypotonia	OMIM:617235
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina...	ORPHA:98902
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Ectrodactyly, Oligodactyly	ORPHA:3016
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl...	ORPHA:480536
Central Core Disease	Multiple joint contractures, Hypotonia, Myopathy, Talipes equinovarus, Type 1 muscle fiber predom...	ORPHA:597
Distal Triplication 15Q	Abnormal external genitalia, Abnormality of the kidney, Large for gestational age, Flexion contra...	ORPHA:314588
Amyotrophic Lateral Sclerosis 20	Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles	OMIM:615426
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cyst, Multiple lipomas, Renal cell carcinoma, Colon cancer, Large intestina...	OMIM:135150
Hyperferritinemia With Or Without Cataract	Increased circulating ferritin concentration, Nuclear cataract, Pulverulent cataract	OMIM:600886
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Polycystic kidney dysplasia	OMIM:614859
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ...	ORPHA:119
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn...	OMIM:300559
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Axial dystonia, Failure to thrive in infancy, Spastic paraplegia, Flexion contracture, Increased ...	OMIM:619026
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Failure to thrive, Polycystic kidney dysplasia, Hepatosplenomegaly	OMIM:608776
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Congenital diaphragmatic hernia, Flexion contracture, Periportal fibrosis, Bicornuat...	OMIM:263210
Cap Myopathy	Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, Ge...	ORPHA:171881
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Elbow flexion contracture, Hypotonia, Increased variability in muscle ...	OMIM:619461
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Jaundice, Stage 5 chronic ...	OMIM:613095
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Ragged-red muscle fibers, Hypotonia	ORPHA:480
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Cleft palate, Joint cont...	OMIM:214110
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Talipes cavus equinovarus, Abnormality of the calf musculature, Proximal...	ORPHA:59135
Branchiootorenal Syndrome 1	Renal malrotation, Intestinal malrotation, Unilateral renal agenesis, Renal steatosis, Cleft pala...	OMIM:113650
Peutz-Jeghers Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma...	ORPHA:2869
Arthrogryposis Multiplex Congenita 6	Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni...	OMIM:619334
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Benign Samaritan Congenital Myopathy	Internally nucleated skeletal muscle fibers, Frog-leg posture, Generalized hypotonia, Centrally n...	ORPHA:324581
Mckusick-Kaufman Syndrome	Hydroureter, Aganglionic megacolon, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, ...	OMIM:236700
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete...	ORPHA:2970
Caroli Disease	Cholangiocarcinoma, Hepatomegaly, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla...	ORPHA:2198
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Proximal ...	OMIM:602418
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Axial hypotonia...	OMIM:619173
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Myopathy, Myofibrillar, 4	Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting	OMIM:609452
Fanconi Anemia, Complementation Group O	External genital hypoplasia, Cryptorchidism, Rectal atresia, Stage 5 chronic kidney disease, Rena...	OMIM:613390
Ulnar Agenesis And Endocardial Fibroelastosis	Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Typical Nemaline Myopathy	Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f...	ORPHA:171436
Trisomy 17P	Hypoplasia of penis, Urethral valve, Urethral stenosis, Flexion contracture, Cleft palate, Macrog...	ORPHA:261290
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex...	ORPHA:1145
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E...	ORPHA:397744
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti...	OMIM:620278
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Humeroradial synostosis, Forearm undergrowth, Talipes eq...	OMIM:251230
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Severe muscular hypotonia, Spinal muscular atrophy, Flexion contracture, Increased variability in...	OMIM:616866
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Axial hypotonia, Severe muscular hypotonia, Tapered finger, Hypotonia, Type 1 muscle fiber predom...	OMIM:612949
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cy...	OMIM:617100
Combined Oxidative Phosphorylation Deficiency 19	Neonatal hypotonia, Increased variability in muscle fiber diameter, Failure to thrive, Hypotonia	OMIM:615595
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f...	OMIM:615422
Creatine Phosphokinase, Elevated Serum	Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa...	OMIM:123320
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormality of the spleen...	ORPHA:1834
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal insufficiency, Unilateral renal agenesis, Septate vagina, Uterus didelp...	ORPHA:2237
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Short uvula, Renal hypoplasia, Renal cyst, Cleft palate, High palate, Hepatic fibros...	OMIM:614091
Caroli Syndrome	Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,...	ORPHA:480520
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia, Multinodular goiter	ORPHA:2091
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi...	OMIM:231680
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hepatitis, Rena...	OMIM:610199
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas,...	ORPHA:2924
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Facial palsy, Rigidity, Ragged-red muscle fibers, Increased variability ...	OMIM:258450
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente...	ORPHA:731
Amyotrophic Lateral Sclerosis 21	Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness...	OMIM:606070
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Anal atresia, Intestinal ...	ORPHA:2973
Cataract 47	Microcornea, Cataract	OMIM:612018
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Renal insufficiency, Hepatomegaly, Long-chain dicarboxylic aciduria, Elbow ...	OMIM:608836
Thomas Syndrome	Multicystic kidney dysplasia, Cleft palate, Renal hypoplasia/aplasia	ORPHA:3316
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Intestinal malrotation, Hamartoma of tongue, Cleft palate, Polycystic kidney dysplasia, Ambiguous...	OMIM:613091
Meckel Syndrome, Type 9	Ambiguous genitalia, Multicystic kidney dysplasia	OMIM:614209
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Single transverse palmar crease, Capitate-hamate fusion, 2-3 toe cuta...	OMIM:206920
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Bardet-Biedl Syndrome 6	Hypospadias, External genital hypoplasia, Obesity, Renal cyst, Vaginal atresia	OMIM:605231
Syndromic Diarrhea	Hepatomegaly, Inguinal hernia, Villous atrophy, Small for gestational age, Gastritis, Increased m...	ORPHA:84064
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Odontochondrodysplasia 1	Dentinogenesis imperfecta, Polycystic kidney dysplasia, Nephronophthisis	OMIM:184260
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Torticollis, Progressive distal muscular atrophy, Facial palsy, Peroneal muscle...	OMIM:181405
Genitopalatocardiac Syndrome	Gonadal dysgenesis, male, Hypospadias, Cleft palate, Renal cyst	OMIM:231060
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co...	OMIM:620351
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Small for gestational age, Cryptorchi...	OMIM:614866
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Rhabdomyolysis, Hypotonia, Myopathy, Increased intramyocellular lipid dr...	OMIM:255125
Lethal Congenital Contracture Syndrome 5	Small for gestational age, Centrally nucleated skeletal muscle fibers, Flexion contracture, Hypot...	OMIM:615368
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Hematuria,...	OMIM:243910
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Villous atrophy, Renal cyst, Proximal tubulopathy, Protein-losing enteropathy, Hepa...	OMIM:602579
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Clinodactyly of the 5th finger, Short foot, Oligodactyly	OMIM:619758
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Ute...	ORPHA:220460
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle	OMIM:173800
Muscular Dystrophy, Congenital, Megaconial Type	Facial palsy, Myopathy, Muscular dystrophy, Generalized hypotonia, Increased endomysial connectiv...	OMIM:602541
Indomethacin Embryofetopathy	Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology	ORPHA:1909
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Fatty replacement of skeletal muscle, Generalized amyotrophy, Increased variability in muscle fib...	ORPHA:52430
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Acute pancreatitis, Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, E...	ORPHA:26791
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Ectopia lentis	ORPHA:1068
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Myasthenic Syndrome, Congenital, 19	Increased variability in muscle fiber diameter, Facial palsy, Hypotonia, Generalized hypotonia	OMIM:616720
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, High, narrow palate, Red-brown urine, R...	ORPHA:228308
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Neutropenia, Nephropathy,...	OMIM:617056
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han...	OMIM:146510
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis,...	ORPHA:157
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts	ORPHA:3033
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Polycystic liver disease, Renal cyst	OMIM:174050
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Omphalocele, Abnormality of the gastrointestinal tract, Multicystic kidney dysplasia, Hydroureter...	ORPHA:2241
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Cryptorchidism, Cleft palate, Multiple...	ORPHA:1166
Acrofacial Dysostosis, Rodríguez Type	Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosis, Abnormal pelvic ...	ORPHA:1788
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Distal Deletion 12Q	Failure to thrive in infancy, Unilateral cryptorchidism, Ectopic kidney, High, narrow palate, Pit...	ORPHA:96149
Rhyns Syndrome	Hypopituitarism, Multicystic kidney dysplasia, Abnormality of the liver, Nephronophthisis	ORPHA:140976
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hyperechogenic kidneys, Intestinal malrotation, Polycystic kidney dysplasia	OMIM:617866
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly	OMIM:149000
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Aplastic clavicle, Abnormality of the humerus, Short thumb, El...	ORPHA:2538
Meckel Syndrome, Type 1	External genital hypoplasia, Asplenia, Ambiguous genitalia, female, Lobulated tongue, Ambiguous g...	OMIM:249000
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Renal cyst	OMIM:614870
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Myopathy, Hypotonia, Increased variability in muscle fiber diameter, Limb dystonia	OMIM:604377
Optic Atrophy 11	Hypotonia, Facial diplegia, Bilateral talipes equinovarus, Increased variability in muscle fiber ...	OMIM:617302
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Joubert Syndrome 39	Overweight, Joint contracture of the 5th finger, Polycystic kidney dysplasia	OMIM:619562
Phelan-Mcdermid Syndrome	Abnormality of the kidney, High palate, Gastroesophageal reflux, Polycystic kidney dysplasia, Cel...	OMIM:606232
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Hypotonia, Generalized hypotonia, Muscular dystrophy	OMIM:616538
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Renal Hypoplasia, Bilateral	Failure to thrive, Proteinuria, Small for gestational age, Cryptorchidism, Chronic kidney disease...	ORPHA:97362
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Acrorenal-Mandibular Syndrome	Absent nipple, Renal agenesis, Congenital diaphragmatic hernia, Abnormality of the ureter, Uterus...	OMIM:200980
Familial Partial Lipodystrophy, Dunnigan Type	Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size	ORPHA:2348
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Facial palsy, Rigidity, Ragged-red muscle fibers, Rhabdomyolysis, Limb m...	OMIM:157640
Native American Myopathy	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Hypotonia, Congenital contrac...	ORPHA:168572
Joubert Syndrome 18	Cleft palate, Renal cyst, Horseshoe kidney, Lobulated tongue, Intrahepatic biliary atresia, Campt...	OMIM:614815
Pparg-Related Familial Partial Lipodystrophy	Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus...	ORPHA:79083
Vacterl/Vater Association	Bifid scrotum, Omphalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal...	ORPHA:887
Hajdu-Cheney Syndrome	Inguinal hernia, Hypospadias, Intestinal malrotation, Cryptorchidism, Renal cyst, High palate, Po...	OMIM:102500
22Q11.2 Deletion Syndrome	Anorectal anomaly, Hypoplasia of the thymus, Abnormality of the uterus, Gastroesophageal reflux, ...	ORPHA:567
Epidermal Nevus Syndrome	Lipoma, Polycystic kidney dysplasia	ORPHA:35125
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Microglossia, Cleft palate, Hep...	OMIM:263520
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Renal cys...	ORPHA:79303
Aprosencephaly Syndrome	Hand oligodactyly	OMIM:207770
Peroxisome Biogenesis Disorder 11A (Zellweger)	Failure to thrive, Multiple renal cysts, Renal cyst	OMIM:614883
Meckel Syndrome, Type 2	Omphalocele, Intestinal malrotation, Cleft palate, Renal cyst, Bile duct proliferation	OMIM:603194
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o...	OMIM:614900
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln...	OMIM:263650
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Glycogen Storage Disease Vii	Increased muscle glycogen content, Increased variability in muscle fiber diameter	OMIM:232800
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Ulnar deviation of the hand, Centrally nucleated skeletal muscle fib...	OMIM:616503
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Cryptorchidism, Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine	ORPHA:54057
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,...	ORPHA:730
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Orofaciodigital Syndrome I	Proteinuria, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Tongue nodules, Ovarian cyst, L...	OMIM:311200
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Pituitary adenoma, Chronic kidney disease, Parath...	ORPHA:805
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Generalized hypotonia	OMIM:619424
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Increased variability in muscle fiber diameter, Increased muscle glycogen content, Increased intr...	ORPHA:502423
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge...	ORPHA:1106
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Meckel Syndrome 14	Ambiguous genitalia, Aplasia of the uterus, Hepatic fibrosis, Polycystic kidney dysplasia	OMIM:619879
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Renal hypoplasia/aplasia...	ORPHA:2473
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Hypokalemic Periodic Paralysis	Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology	ORPHA:681
Parathyroid Carcinoma	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulce...	ORPHA:143
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Abscess, Abnormality of the testis size, Peritoneal...	ORPHA:400
Coach Syndrome 1	Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Splenomegaly, Multiple small medull...	OMIM:216360
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Small for gestational age, Precocious puberty, Cryptorchidism, Celia...	ORPHA:2044
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, A...	ORPHA:93111
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration	OMIM:615605
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red...	OMIM:607459
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub...	OMIM:610205
Meckel Syndrome, Type 10	Hypospadias, Malformation of the hepatic ductal plate, Renal cyst, Cleft palate, Camptodactyly, M...	OMIM:614175
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Congenital diaphragmatic hernia, Hamartoma of tongue, Cleft palate, Polycystic kidney dysplasia, ...	OMIM:616546
Preeclampsia	Elevated circulating creatinine concentration	ORPHA:275555
Bardet-Biedl Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Obesity, Nephrotic syndrome, H...	ORPHA:110
Bardet-Biedl Syndrome 12	Hydroureter, Hydrometrocolpos, Obesity, Cystic renal dysplasia, Hypogonadism, Vaginal atresia, Hy...	OMIM:615989
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs...	OMIM:600740
Say Syndrome	Proximal renal tubular acidosis, Cleft palate, Cystic renal dysplasia	OMIM:181180
Roberts Syndrome	Progressive flexion contractures, Cryptorchidism, Thrombocytopenia, Long penis, Cleft palate, Kne...	ORPHA:3103
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Myopathy, Mitochondrial, And Ataxia	Increased variability in muscle fiber diameter, Distal amyotrophy, Generalized hypotonia	OMIM:617675
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Camptodactyly of finger, Horseshoe kidney, Duplication...	DECIPHER:81
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulce...	ORPHA:99880
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Olig...	ORPHA:69085
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Severe muscular hypotonia, Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Mus...	OMIM:613150
Lethal Congenital Contracture Syndrome 10	Torticollis, Overlapping fingers, Femoral bowing, Macroglossia, Talipes equinovarus, Increased va...	OMIM:617022
Macrodactyly	Macrodactyly	OMIM:155500
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Flexion contracture, Skeletal muscle hypertrophy, Mus...	OMIM:613327
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Astigma...	OMIM:618885
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella...	OMIM:609945
Ogden Syndrome	Global glomerulosclerosis, Inguinal hernia, Cryptorchidism, Thrombocytopenia, Jaundice, Microvesi...	OMIM:300855
Oculopharyngodistal Myopathy 1	Autophagic vacuoles, Facial palsy, Weight loss, Distal amyotrophy, Increased variability in muscl...	OMIM:164310
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Glycogen Storage Disease Xii	Myopathy, Hypotonia, Increased variability in muscle fiber diameter, Muscle fiber splitting	OMIM:611881
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased variability in muscle fiber diameter, Ragged-red muscle fibers	ORPHA:70595
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Baller-Gerold Syndrome	Carpal bone aplasia, Hypoplasia of the ulna, Radial deviation of the hand, Short humerus, Limited...	OMIM:218600
Mody	Abnormality of the kidney, Elevated hemoglobin A1c, Large for gestational age, Overweight, Obesit...	ORPHA:552
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Male ...	ORPHA:2075
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Cataract, Elevated circulating creatinine concentration	OMIM:614376
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Diaphanospondylodysostosis	Multiple renal cysts, Cleft palate	ORPHA:66637
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Short humerus, Short femur, Flexion contracture, Ragged-red muscle fiber...	ORPHA:17
Bardet-Biedl Syndrome 17	Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Hypogonadism, Micropenis	OMIM:615994
Joubert Syndrome 20	Renal cyst	OMIM:614970
Meckel Syndrome, Type 6	Abnormal internal genitalia, Absent gallbladder, Renal cyst, Horseshoe kidney, Cleft palate, Cyst...	OMIM:612284
Adams-Oliver Syndrome 6	Syndactyly, Foot oligodactyly, Brachydactyly	OMIM:616589
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Cleft palat...	OMIM:607361
Trisomy 1Q	Omphalocele, Multicystic kidney dysplasia, Small scrotum, Camptodactyly of finger, Congenital dia...	ORPHA:261344
Fryns Syndrome	Omphalocele, Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Congenital diaphra...	ORPHA:2059
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Acrocephalopolydactylous Dysplasia	Omphalocele, Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intest...	OMIM:200995
Verheij Syndrome	Small for gestational age, Renal agenesis, Renal hypoplasia, Cleft palate, Renal cyst	OMIM:615583
Femoral-Facial Syndrome	Inguinal hernia, Renal agenesis, Abnormal renal collecting system morphology, Cryptorchidism, Cle...	OMIM:134780
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Meckel Syndrome, Type 5	Cleft palate, Bile duct proliferation, Renal cyst	OMIM:611561
Penile Agenesis	Urethral atresia, male, Hydroureter, Rectal fistula, Cryptorchidism, Fetal pyelectasis, Bilateral...	ORPHA:49
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Large for gestational age, Renal ...	OMIM:229850
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Renal cyst, Ureteral agenesis, Arthrogryposis multiplex congenita, Renal dysplasia	OMIM:236500
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Malabsorption, Cryptorchidism, Pyloric s...	ORPHA:912
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Abnormal tibia morpholo...	ORPHA:2879
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Supernumerary nipple, Cryptorchidism, Pylo...	ORPHA:261494
Campomelia, Cumming Type	Hepatomegaly, Multicystic kidney dysplasia, Pancreatic cysts, Abnormality of the pancreas, Cleft ...	ORPHA:1318
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Small for gestational a...	OMIM:257300
Axial Osteomalacia	Polycystic liver disease, Renal cyst	OMIM:109130
Pallister-Hall Syndrome	Mesoaxial polydactyly, Broad toe, Toe syndactyly, Overlapping toe, Radial bowing, Postaxial hand ...	ORPHA:672
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Trisomy 13	Cryptorchidism, High, narrow palate, Abnormality of the ureter, Cleft palate, Multiple renal cyst...	ORPHA:3378
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Shoulder flexion contracture, Cryptorchidism, Flexion contracture, Elbow flexion...	OMIM:210710
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Cleft palate, Anteriorly placed anus, Camptodactyly, Enamel hypopla...	OMIM:619980
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Ectopic kidney, High, narrow palate, Renal cyst, High palate, Ga...	OMIM:122470
Cornelia De Lange Syndrome	Toe syndactyly, Abnormal morphology of ulna, Micromelia, Proximal placement of thumb, Elbow dislo...	ORPHA:199
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Renal cyst	OMIM:611773
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Inguinal hernia, Portal hypertension, Pa...	OMIM:267010
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, High palate, Failure to thrive	ORPHA:2115
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Villous atrophy, Proteinuria, Hypergonadotropic hypogonadism, Abnormal subcutaneous...	OMIM:212065
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
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis, Intestinal pseudo-obstruction	ORPHA:73246
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Uret...	ORPHA:261265
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft palate, Vesico...	ORPHA:107
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Hypoalbuminemia	OMIM:608104
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Hepatic ...	OMIM:614922
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Large for gestational age, Hypercalciuria, Renal cyst, Nephrocalc...	OMIM:615398
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Camptodactyly of finger, Intestinal malrotation, Asplenia, ...	ORPHA:99776
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Bone marrow hypoc...	ORPHA:445038
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Corneal ulceration, Elevated circulating creatinine concentration, Recurrent corneal erosions, In...	OMIM:223900
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Failure to thrive in infancy, Bilateral cleft lip and palate, High ...	OMIM:618829
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Renal cell c...	OMIM:193300
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic...	OMIM:613159
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Alveolar Echinococcosis	Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, Abnormal mesente...	ORPHA:284
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Glossoptosis, Multicystic kidney dysplasia, Congenital hepatic fibrosis, Renal cyst	ORPHA:2031
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phocomelia, Elbow anky...	OMIM:276820
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil...	OMIM:614527
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Corneal crystals, Amin...	ORPHA:411634
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hep...	OMIM:615415
Relapsing Fever	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:91547
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Lymphopenia, Neutropenia, Renal hypoplasia, Renal cyst, Corneal scarring, D...	OMIM:618460
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Trisomy 20P	Inguinal hernia, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Cryptorchidism,...	ORPHA:261318
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cy...	ORPHA:18
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Knee flexion contra...	ORPHA:85201
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Failure to thrive, Flexion contracture of finger, Hypospadias, Small for gestational age, Unilate...	ORPHA:464311
Sickle Cell Anemia	Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia	ORPHA:232
Polysyndactyly With Cardiac Malformation	Hepatic cysts, Renal cyst	OMIM:263630
Ulbright-Hodes Syndrome	Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Cryptorchidism, Re...	ORPHA:3404
Dyrk1A-Related Intellectual Disability Syndrome	Failure to thrive, Multiple joint contractures, Hypospadias, Small for gestational age, Unilatera...	ORPHA:464306
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Hypospadias, Enlarged labia minora, Ankle flexion contracture, Cryptorchidism, ...	OMIM:268300
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Short femur, Foot oligodactyly	OMIM:601357
Diaphanospondylodysostosis	Inguinal hernia, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cleft palate, Abnormal ...	OMIM:608022
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Supernumerary nipple, Pyloric sten...	ORPHA:1001
Mosaic Trisomy 1	Omphalocele, Hepatic agenesis, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow fl...	ORPHA:1692
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Cryptorchidism, Inguinal hernia, Renal cyst, Horseshoe kidney	ORPHA:166035
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Pyloric stenosis, Obesity, Cleft p...	ORPHA:261197
Meckel Syndrome, Type 4	Cleft palate, Bile duct proliferation, Renal cyst	OMIM:611134
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Developmental Delay With Or Without Dysmorphic Facies And Autism	Omphalocele, Inguinal hernia, Small scrotum, Supernumerary nipple, Congenital diaphragmatic herni...	OMIM:618454
Pagod Syndrome	Omphalocele, Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Renal hypoplasia/apla...	ORPHA:991
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Gastrointestinal dysmotility, Renal cyst, Gastroesophageal reflux, ...	OMIM:270400
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut...	ORPHA:699
Joubert Syndrome 2	Renal insufficiency, Renal cyst, High palate, Nephronophthisis, Hypoplastic male external genital...	OMIM:608091
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal pelvis bone morphology, Camptodactyly of finger, Abnormality of the hand, Ectrodactyly, ...	ORPHA:2273
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Precocious puberty, High, narrow palate, Hypercalciuria, Renal cyst, Obesity,...	ORPHA:369837
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Omphalocele, Hamartoma of tongue, Cryptorchidism, Renal hypoplasia, Renal cyst, Cleft palate, Lob...	OMIM:616300
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Abn...	ORPHA:1225
Kaposiform Lymphangiomatosis	Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormality of the lymphatic system, Hepatosple...	ORPHA:464329
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration	ORPHA:79126
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Inguinal hernia, Camptodactyly of finger, Supernumerary nipple, Hyd...	ORPHA:261349
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration	ORPHA:90060
Focal Dermal Hypoplasia	Omphalocele, Multicystic kidney dysplasia, Inguinal hernia, Abnormal dental enamel morphology, Co...	ORPHA:2092
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cleft palate, High palate, Cys...	OMIM:220500
Tuberous Sclerosis 1	Dental enamel pits, Precocious puberty, Renal cyst, Renal cell carcinoma, Pulmonary lymphangiomyo...	OMIM:191100
Joubert Syndrome With Hepatic Defect	Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Inguinal hernia, Portal hyperten...	ORPHA:1454
Short-Rib Thoracic Dysplasia 12	Omphalocele, Hepatomegaly, Inguinal hernia, Intestinal malrotation, Hamartoma of tongue, Splenome...	OMIM:269860
Acrofacial Dysostosis 1, Nager Type	Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Broad hallux, Overlapping toe, Ab...	OMIM:154400
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Inguinal hernia, Transient neutropenia, Large for gestational age, Renal cyst,...	OMIM:617107
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Failure to thrive, Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital ...	OMIM:266920
Atelosteogenesis Type I	Malrotation of colon, Abnormal pancreatic duct morphology, Multiple renal cysts, Cleft palate	ORPHA:1190
Thrombotic Thrombocytopenic Purpura, Hereditary	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Immunodeficiency 96	Multicystic kidney dysplasia, Increased mean corpuscular volume, Increased proportion of gamma-de...	OMIM:619774
Beckwith-Wiedemann Syndrome	Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Hepatoblastoma,...	ORPHA:116
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Atypical scarring of skin, High palate, Hydronephrosis	ORPHA:1297
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Vaginal atresia, Anal atresia	ORPHA:3301
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis, Pancreatic cysts...	OMIM:208500
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Precocious puberty, Renal cyst, Renal cell car...	OMIM:613254
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Abnormality of the lymphatic...	ORPHA:538
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Renal cyst	OMIM:614862
Aapoaiv Amyloidosis	Hyperlipidemia, Elevated circulating creatinine concentration	ORPHA:439232
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancr...	ORPHA:564
D-Bifunctional Protein Deficiency	Hepatomegaly, Splenomegaly, Renal cyst, Cholestasis, High palate, Bile duct proliferation, Failur...	OMIM:261515
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Schinzel-Giedion Syndrome	Inguinal hernia, Streak ovary, Hypospadias, Failure to thrive in infancy, Aganglionic megacolon, ...	ORPHA:798
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital diaphragmatic hernia, High, narrow palate, ...	ORPHA:373
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Overgrowth of external genitalia, Hepatoblastoma, Cryptorchidism, Panc...	OMIM:130650
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin...	ORPHA:36234
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Cryptorchid...	ORPHA:1606
Joubert Syndrome 14	Cleft palate, Renal cyst	OMIM:614424
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Multicystic kidney dysplasia, Vaginal neoplasm, Cleft palate, Acute lymphob...	ORPHA:1052
Townes-Brocks Syndrome 1	Bifid scrotum, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Sm...	OMIM:107480
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Hepatomegaly, Renal cyst, Hepatic fibrosis, Cirrhosis	OMIM:601539
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Gastroesophageal reflux...	ORPHA:534
Cerebrocostomandibular Syndrome	Anal stenosis, Cleft soft palate, Ectopic kidney, Elbow flexion contracture, Horseshoe kidney, Re...	OMIM:117650
Osteopathia Striata With Cranial Sclerosis	Omphalocele, Multicystic kidney dysplasia, Failure to thrive, Anal stenosis, Intestinal malrotati...	OMIM:300373
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated circulating creatinine concentration	ORPHA:247691
Jacobsen Syndrome	Multicystic kidney dysplasia, Inguinal hernia, Intestinal malrotation, Cryptorchidism, Pyloric st...	ORPHA:2308
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration	OMIM:266900
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, High, narrow palate, Rena...	ORPHA:3015
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Esophageal atresia, Con...	ORPHA:93271
Fraser Syndrome	Omphalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Small scrotum, Anal ...	ORPHA:2052
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypospadias, Cryptorchidism, Renal cyst, Furrowed tongue, High palate, Gastroesophageal reflux, V...	OMIM:616975
Joubert Syndrome 1	Protruding tongue, Renal cyst, Macroglossia, Hepatic fibrosis, Nephropathy	OMIM:213300
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Inguinal hernia, Transient neutropenia, Chronic ...	ORPHA:500095
Transketolase Deficiency	Increased level of ribose in urine, Renal cyst, Hepatomegaly	ORPHA:488618
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Abnormal dental enamel morphology...	ORPHA:818
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:49041
Trisomy 10P	Absent gallbladder, Small for gestational age, Abnormality of the kidney, Dysphagia, Multiple ren...	ORPHA:171929
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, ...	ORPHA:857
Focal Dermal Hypoplasia	Short metacarpal, Toe syndactyly, Congenital hip dislocation, Postaxial hand polydactyly, Osteopa...	OMIM:305600
Robinow Syndrome	Multicystic kidney dysplasia, Small scrotum, Small for gestational age, External genital hypoplas...	ORPHA:97360
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Wrist flexion contracture, Multiple renal cysts, ...	OMIM:618733
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir...	ORPHA:90038
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia	ORPHA:29073
Cranioectodermal Dysplasia 2	Hepatomegaly, Renal insufficiency, Inguinal hernia, Cholangitis, Splenomegaly, Biliary cirrhosis,...	OMIM:613610
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Renal cyst, Anter...	ORPHA:495875
Histiocytoid Cardiomyopathy	Hepatomegaly, Cleft palate, Renal cyst, Polycystic ovaries, Failure to thrive	ORPHA:137675
Hajdu-Cheney Syndrome	Hepatomegaly, Inguinal hernia, Hypospadias, Intestinal malrotation, Splenomegaly, Cleft palate, M...	ORPHA:955
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Inguinal hernia, Camptodactyly of finger, Cryp...	ORPHA:1507
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa...	ORPHA:892
Oligomeganephronia	Elevated circulating creatinine concentration	ORPHA:2260
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Renal cyst, Horseshoe kidney	OMIM:250410
Alagille Syndrome 1	Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas...	OMIM:118450
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Renal cyst, Hepatoblastoma, Exaggerated median tongue furrow, He...	OMIM:312870
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Renal dysplasia, Renal cyst	OMIM:617260
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Abnormal dental enamel morphology...	ORPHA:2750
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Small scrotum, Anal stenosis, Enlarged labia minor...	OMIM:606170
C Syndrome	Omphalocele, Multicystic kidney dysplasia, Failure to thrive in infancy, Congenital diaphragmatic...	ORPHA:1308
Distal Deletion 15Q	Multicystic kidney dysplasia, Hypospadias, Small for gestational age, Congenital diaphragmatic he...	ORPHA:1596
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Joubert Syndrome 21	Splenomegaly, Hyperechogenic kidneys, Renal cyst, Dysphagia	OMIM:615636
Williams Syndrome	Hypoplasia of penis, Rectal prolapse, Abnormal tubulointerstitial morphology, Nephrocalcinosis, G...	ORPHA:904
Tubulointerstitial Nephritis And Uveitis Syndrome	Cataract, Elevated circulating C-reactive protein concentration, Anterior chamber flare, Elevated...	ORPHA:91500
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin...	ORPHA:99826
Tetrasomy 9P	Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Median cleft lip and pal...	ORPHA:3310
Proteus Syndrome	Thymus hyperplasia, Abnormal dental enamel morphology, Cachexia, Testicular neoplasm, Enlarged po...	ORPHA:744
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration	ORPHA:340
Spondylocarpotarsal Synostosis Syndrome	Cleft palate, Inguinal hernia, Enamel hypoplasia, Renal cyst	OMIM:272460
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Inguinal hernia, Hypospadias, Intestinal fist...	ORPHA:709
Congenital Fibrosis Of Extraocular Muscles	Hand oligodactyly	ORPHA:45358
Branchiooculofacial Syndrome	Renal agenesis, Hypospadias, Supernumerary nipple, Malrotation of colon, Cryptorchidism, Pyloric ...	OMIM:113620
Cerebrocostomandibular Syndrome	Glossoptosis, Multicystic kidney dysplasia, Short hard palate, Cleft palate	ORPHA:1393
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration	ORPHA:93126
Mowat-Wilson Syndrome	Bifid scrotum, Urinary incontinence, Cleft hard palate, Asplenia, Gastrointestinal dysmotility, F...	ORPHA:2152
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Omphalocele, Multicystic kidney dysplasia, Inguinal hernia, Renal agenesis, Hypospadias, Unilater...	OMIM:308205
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Urinary incontinence, Cleft hard palate, Asplenia, Flexion contracture, Vesicouret...	ORPHA:261537
Pallister-Killian Syndrome	Small scrotum, Congenital diaphragmatic hernia, Flexion contracture, Renal cyst, Anteriorly place...	OMIM:601803
Igg4-Related Kidney Disease	Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ...	ORPHA:449395
Cutis Marmorata Telangiectatica Congenita	Displacement of the urethral meatus, Multicystic kidney dysplasia	ORPHA:1556
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Urinary incontinence, Cleft hard palate, Asplenia, Flexion contracture, Vesicouret...	ORPHA:261552
Yellow Fever	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration...	ORPHA:99829
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Decreased testicular size, Micropenis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:615287
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating...	OMIM:619534
Charge Syndrome	Hypoplasia of the ulna, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Absent radius, S...	OMIM:214800
Pmm2-Cdg	Multiple joint contractures, Proteinuria, Hypogonadotropic hypogonadism, Elevated circulating gro...	ORPHA:79318
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Cleft palate, Vesicoureteral reflux...	OMIM:164210

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 Myoz1

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 Myoz1.

No publications found that use IMPC mice or data for Myoz1.

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MGI Allele	Allele Type	Produced
Myoz1^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Myoz1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Myoz1^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Myoz1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Myoz1^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Myoz1 MGI:1929471

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

Human diseases caused by Myoz1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data