Gene Summary

Name:
myozenin 1
Synonyms:
calsarcin-2,  FATZ,  2310001N11Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
enlarged cecum Myoz1tm1b(EUCOMM)Hmgu HOM Late adult 0.00
decreased grip strength Myoz1tm1b(EUCOMM)Hmgu HOM   Early adult 3.85×10-06
polycystic kidney Myoz1tm1b(EUCOMM)Hmgu HOM Late adult 0.00
enlarged seminal vesicle Myoz1tm1b(EUCOMM)Hmgu HOM Late adult 0.00
increased marginal zone B cell number Myoz1tm1b(EUCOMM)Hmgu HOM   Late adult 8.45×10-05
decreased circulating creatinine level Myoz1tm1b(EUCOMM)Hmgu HOM Early adult 1.81×10-05
oligodactyly Myoz1tm1a(EUCOMM)Hmgu HET Early adult 2.24×10-11
abnormal lens morphology Myoz1tm1b(EUCOMM)Hmgu HOM Early adult 1.30×10-08
abnormal urination Myoz1tm1a(EUCOMM)Hmgu HOM   Early adult 7.70×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

26 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Postaxial Tetramelic Oligodactyly
Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology, Abnormality of finger ORPHA:2730
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormality of finger OMIM:187390
Trigger Thumb
Abnormal thumb morphology OMIM:190410
Acrorenal Syndrome
Hand oligodactyly OMIM:102520
Brachydactyly-Syndactyly Syndrome
Brachydactyly, Finger syndactyly, Oligodactyly, Short phalanx of finger, Short digit, Camptodacty... OMIM:610713
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Brachydactyly, Oligodactyly, Ectrodactyly, Talipes equinovarus, Split hand OMIM:612576
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Hand oligodactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Tetramelic Monodactyly
Split hand, Split foot, Foot monodactyly, Hand monodactyly OMIM:187510
Santos Syndrome
Brachydactyly, Preaxial polydactyly, Oligodactyly, Metatarsus adductus, Polydactyly, Postaxial po... OMIM:613005
Banki Syndrome
Clinodactyly, Radial deviation of finger OMIM:109300
Gollop-Wolfgang Complex
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Myopathy, Distal, With Rimmed Vacuoles
Foot dorsiflexor weakness, Skeletal muscle atrophy, Increased variability in muscle fiber diamete... OMIM:617158
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617610
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Split-Hand/Foot Malformation 1
Clinodactyly, Hand oligodactyly, Triphalangeal thumb, Broad hallux, Ectrodactyly, Foot oligodacty... OMIM:183600
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Foot dorsiflexor weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber pr... OMIM:618655
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Isolated Split Hand-Split Foot Malformation
Split hand, Oligodactyly, Finger syndactyly, Absent hand ORPHA:2440
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Increased variability in muscle f... OMIM:618848
Gne Myopathy
Lower limb amyotrophy, Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Lower... ORPHA:602
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Increased variability in muscle fiber dia... OMIM:613204
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Foot dorsiflexor weakness, Proximal muscle weakness in l... OMIM:601954
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Arachnodactyly, Oligodactyly, Humeroradial synostosis OMIM:614416
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly OMIM:172880
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Proximal lower limb amyotrophy,... OMIM:158600
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber p... OMIM:619042
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Duplication of phalanx of ... OMIM:174500
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Short 5th finger, Syndactyly OMIM:186100
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Broad hallux, Hallux varus, Syndactyly OMIM:234280
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Congenital muscular dystrophy, Increased variability in muscle fiber diamete... OMIM:609456
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, EMG: myop... OMIM:618940
Postaxial Oligodactyly, Tetramelic
Single transverse palmar crease, Postaxial foot polydactyly, Partial-complete absence of 5th phal... OMIM:176240
Mitochondrial Myopathy With Diabetes
Ragged-red muscle fibers, EMG: myopathic abnormalities, Proximal amyotrophy, Hypotonia, Generaliz... OMIM:500002
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber hypertrophy, Foot dorsiflexor weakness, Skeletal muscle atrophy, Muscle fiber splitt... ORPHA:178464
Inclusion Body Myositis
Inflammatory myopathy, Skeletal muscle atrophy, Ragged-red muscle fibers, Quadriceps muscle weakn... ORPHA:611
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Foot dorsiflexor weakness, Facial hypotonia, Hip flexor weakness, Increased endomysial connective... ORPHA:266
Bethlem Myopathy 2
Flexion contracture, Increased variability in muscle fiber diameter, Generalized hypotonia, Myopa... OMIM:616471
Nonaka Myopathy
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Distal amyotrophy,... OMIM:605820
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Central Core Disease Of Muscle
Nemaline bodies, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Ankle f... OMIM:117000
Myopathy, Distal, 5
Muscle fiber splitting, Myopathy, Distal amyotrophy, Facial palsy, Rimmed vacuoles OMIM:617030
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Abnormality of... OMIM:246570
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased endom... OMIM:619733
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300717
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, Increased variability in muscle fiber diameter, EMG: myopathic ab... OMIM:254110
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Foot dorsiflexor weakness, Limb-girdle muscular dystrophy, Proximal muscle weakness in lower limb... OMIM:615424
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormality of the ulna, Abnormal metacarpal morphology, Hand oli... ORPHA:3104
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Generalized neonatal hypotonia, Myopathy, Type 1 fibers relatively smaller... OMIM:300580
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter, EMG: myopathic abnor... ORPHA:2593
Tibial Muscular Dystrophy
Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs, Increased variability in musc... ORPHA:609
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Myofibrillar myopathy, Increased variability in muscle fiber diameter, Skeletal muscle fibrosis, ... ORPHA:34516
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Flexion limitation of toes, Proxi... OMIM:609115
Syndactyly, Type Iv
6 metacarpals, 2-3 toe syndactyly, Triphalangeal thumb, Supernumerary metacarpal bones, Polydacty... OMIM:186200
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular dystrophy, Increased variability in muscle fiber diameter, EMG: myopathic abnormalities,... OMIM:253601
RCAD (renal cysts and diabetes)
Abnormality of the liver, Multiple renal cysts DECIPHER:47
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Generalized hyp... OMIM:618654
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Postaxial oligodactyly, Short 5th finger, Aplasi... ORPHA:52056
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Neonatal hypotonia, Myopathy OMIM:609500
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Failure to thrive in infancy, Increased variability in muscle fiber diameter, Increased... OMIM:619065
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Proximal muscle weakness in upper limbs, Increased variability in muscle fiber diameter, Hamstrin... ORPHA:206549
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy ORPHA:1878
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly OMIM:174200
Alpha-B Crystallin-Related Late-Onset Myopathy
Foot dorsiflexor weakness, Limb-girdle muscle weakness, Increased variability in muscle fiber dia... ORPHA:399058
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Foot monodactyly, Bifid femur, Aplasia of the ulna, Split hand, Hand monodactyly OMIM:228250
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Horseshoe kidney, Hydronephrosis, Abnormality of the uterus, Multicystic kidney d... OMIM:617805
Distal Myopathy, Welander Type
Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Intrinsic hand muscle atroph... ORPHA:603
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Postaxial hand polydactyly, Metacarpal synostosis, Syndactyly OMIM:263450
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Vesicourete... OMIM:601331
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Intrinsic hand muscle atrophy, Increased variability in m... ORPHA:488650
Severe X-Linked Mitochondrial Encephalomyopathy
Severe muscular hypotonia, Generalized hypotonia, Increased variability in muscle fiber diameter,... ORPHA:238329
Nemaline Myopathy 2
Nemaline bodies, Flexion contracture, Sternocleidomastoid amyotrophy, Foot dorsiflexor weakness, ... OMIM:256030
Galactosemia Iv
Hypergalactosemia, Cataract OMIM:618881
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Myopathy, Scapulohumeroperoneal
Achilles tendon contracture, Hand muscle atrophy, Nemaline bodies, Foot dorsiflexor weakness, Ske... OMIM:616852
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, Generalized amyotrophy, Increased variability in muscle fiber dia... OMIM:619178
Myopathy, Myofibrillar, 5
Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, Muscle fiber splitting OMIM:609524
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Skeletal muscle atrophy, Pr... OMIM:619566
Glycogen Storage Disease Ixb
Generalized hypotonia, Increased muscle glycogen content, Hypotonia OMIM:261750
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Shoulder girdle muscle weakness, Angulated muscle fibers, Weakness of facial mu... OMIM:619477
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Colonic diverticula, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Muscle fiber necrosis, Increased variability in muscle fiber diameter, EMG: myopathic abnormaliti... OMIM:614399
Nephronophthisis 20
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Renal insufficiency OMIM:617271
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopathy OMIM:618992
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Nephrolithiasis, Recurrent pancreatitis, Renal cortical adenoma, Parathyro... OMIM:145001
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Increased variability in muscle fiber diameter, Rimmed vacuoles, Myopathy, Limb-girdle muscular d... OMIM:612937
Ectrodactyly-Polydactyly Syndrome
Brachydactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ectrodactyly... ORPHA:1892
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Portal hypertension, Pancreatic cysts, Periportal fibrosis, Splenome... OMIM:263200
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Lower limb amyotrophy, Muscle fiber splitting, Lower limb muscle weakness, Ragged-red muscle fibe... OMIM:616924
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Bardet-Biedl Syndrome 10
Renal cyst, Abnormality of the kidney, Hypogonadism, Renal insufficiency OMIM:615987
Ullrich Congenital Muscular Dystrophy 2
Flexion contracture, Congenital muscular dystrophy, Increased variability in muscle fiber diamete... OMIM:616470
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... ORPHA:457050
Myopathy, Tubular Aggregate, 1
Weakness of the intrinsic hand muscles, Type 2 muscle fiber atrophy, Flexion contracture, Increas... OMIM:160565
Hypotonia, Infantile, With Psychomotor Retardation
Severe muscular hypotonia, Neonatal hypotonia, Increased variability in muscle fiber diameter, My... OMIM:616816
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Minicore myopathy, Congenital muscular dystrophy, Proxim... ORPHA:598
Triphalangeal Thumbs With Brachyectrodactyly
Brachydactyly, Short 2nd finger, Short 3rd toe, Triphalangeal thumb, Split hand, Split foot OMIM:190680
Nephronophthisis 16
Enlarged kidney, Cholestasis, Polycystic kidney dysplasia, Renal insufficiency, Nephronophthisis,... OMIM:615382
Adult-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, Lower limb muscle weakness, Increased variability in muscle... ORPHA:171442
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Oculopharyngodistal Myopathy 3
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Generaliz... OMIM:619473
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Achilles tendon contracture, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Myofibrill... OMIM:603689
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Multiple palmar creases, Preaxial polydactyly, Mesomelic leg short... ORPHA:2756
Rigid Spine Muscular Dystrophy 1
Minicore myopathy, Flexion contracture, Type 1 and type 2 muscle fiber minicore regions, Generali... OMIM:602771
Childhood-Onset Nemaline Myopathy
Nemaline bodies, Scapular winging, Flexion contracture, Slender build, Increased variability in m... ORPHA:171439
Fanconi Anemia, Complementation Group O
Renal cyst, Cryptorchidism, Hydronephrosis, Anal atresia, External genital hypoplasia, Stage 5 ch... OMIM:613390
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Limb-girdle muscle weakness, Generalized amyotrophy, Muscular dystrophy, Increased variability in... ORPHA:86812
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Generalized hypotonia, Rimmed vacuoles, Calf muscle hypertrophy, Skeletal muscle atrophy OMIM:617760
Combined Oxidative Phosphorylation Deficiency 6
Hypotonia, Ragged-red muscle fibers, Generalized hypotonia, Skeletal muscle atrophy OMIM:300816
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Lower limb muscle weakness, Pro... OMIM:613954
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split hand, Split foot, Hand monodactyly OMIM:183800
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Abnormality of the kidney, External genital hypoplasia, Renal dysplas... OMIM:615993
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Split-Hand/Foot Malformation 4
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Ectrodactyly, Aplasia/Hyp... OMIM:605289
Nemaline Myopathy 4
Nemaline bodies, Flexion contracture, Skeletal muscle atrophy, Facial diplegia, Limb muscle weakn... OMIM:609285
Ulnar Hemimelia
Carpal synostosis, Curved toe phalanx, Radial club hand, Short forearm, Aplasia of metacarpal bon... ORPHA:93320
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Myopathy, Rimmed vacuoles, Abnormal muscle fiber morphology ORPHA:270
Myasthenic Syndrome, Congenital, 14
Flexion contracture, Limb-girdle muscle weakness, Ragged-red muscle fibers, Generalized hypotonia... OMIM:616228
Mitochondrial Myopathy, Infantile, Transient
Muscle fiber hypertrophy, Ragged-red muscle fibers, Increased muscle lipid content, Macroglossia,... OMIM:500009
Galactosemia Ii
Hypergalactosemia, Cataract OMIM:230200
Bardet-Biedl Syndrome 6
Renal cyst, Hypospadias, External genital hypoplasia OMIM:605231
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300718
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased varia... OMIM:618138
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, EMG: myopathic abnormalities OMIM:600334
Miyoshi Muscular Dystrophy 1
Lower limb muscle weakness, Distal amyotrophy, Muscular dystrophy, Deposits immunoreactive to bet... OMIM:254130
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Increased endomysial connective tissue, Muscular dystrophy, Flexion contracture, Ankle flexion co... OMIM:617072
Mitochondrial Complex I Deficiency, Nuclear Type 25
Generalized hypotonia, Failure to thrive, Nemaline bodies, Myopathy OMIM:618246
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Renal cyst OMIM:618270
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, Muscular dystrophy, EMG: myopathic abnormalities, Autophagic vacuoles, Shoul... OMIM:608423
Minicore Myopathy With External Ophthalmoplegia
Minicore myopathy, Nemaline bodies, Skeletal muscle atrophy, Type 1 and type 2 muscle fiber minic... OMIM:255320
Fibular Hemimelia
Fibular hypoplasia, Abnormal morphology of ulna, Short tibia, Short toe, Arthralgia of the hip, G... ORPHA:93323
Congenital Muscular Dystrophy, Ullrich Type
Flexion contracture, Increased endomysial connective tissue, Increased variability in muscle fibe... ORPHA:75840
Zebra Body Myopathy
Nemaline bodies, Limb-girdle muscular dystrophy, Muscle fiber splitting, Muscle fiber necrosis, E... ORPHA:97240
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Acrofacial Dysostosis Syndrome Of Rodriguez
Clinodactyly, Single transverse palmar crease, Fibular hypoplasia, Triphalangeal thumb, Oligodact... OMIM:201170
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Neonatal hypotonia, Type 1 fibers relatively smaller than type 2... ORPHA:596
Campomelia, Cumming Type
Polycystic liver disease, Polysplenia, Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Myopathy, Centronuclear, 4
Generalized hypotonia, Centrally nucleated skeletal muscle fibers, Hypotonia OMIM:614807
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Tibial Hemimelia
Radial club hand, Mesomelic leg shortening, Short tibia, Hip dysplasia, Hip dislocation, Absent r... ORPHA:93322
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Absent tibia, Short hallux, Absent forearm, Aplasia/Hypoplasia of the ... OMIM:119100
Hereditary Continuous Muscle Fiber Activity
Spastic gait, Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Ectrodactyly-Polydactyly
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Intrinsic hand muscle atrophy, Ragged-red muscle fibers,... ORPHA:276435
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Achilles tendon contracture, Increased endomysial connective tissue, Increased variability in mus... ORPHA:353
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Minicore myopathy, Multiple joint contractures, Increased variability in muscle fiber diameter, E... ORPHA:486815
Vacuolar Neuromyopathy
Foot dorsiflexor weakness, Muscle fiber splitting, Muscular dystrophy, Shoulder girdle muscle wea... OMIM:601846
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities OMIM:609283
Congenital Multicore Myopathy With External Ophthalmoplegia
Muscle fiber hypertrophy, Nemaline bodies, Flexion contracture, Sternocleidomastoid amyotrophy, A... ORPHA:98905
Myopathy, Congenital, With Fiber-Type Disproportion
Limb joint contracture, Failure to thrive, Neonatal hypotonia, Type 1 fibers relatively smaller t... OMIM:255310
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Proximal amyotrophy, Myopathy, Muscle fiber splitting OMIM:618129
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy, Spasticity OMIM:545000
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Clinodactyly of the 3rd toe, Clinodactyly of the 5th finger, Oligodactyly, Abnormality of the upp... ORPHA:521308
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Scapular winging, Flexion contracture OMIM:300696
Myopathy, Congenital Proximal, With Minicore Lesions
Minicore myopathy, Type 1 muscle fiber predominance, Neonatal hypotonia, Z-band streaming, Centra... OMIM:618823
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Flexion contracture, Muscle fiber splitting, Muscular dystrophy, Facial palsy, Rimmed vacuoles, S... OMIM:603511
Myopathic Ehlers-Danlos Syndrome
Flexion contracture, Contractures involving the joints of the feet, Elbow flexion contracture, Mu... ORPHA:536516
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Increased variability in muscle fiber diameter, Progressive extrapyramidal muscular rig... ORPHA:401768
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Infantile axial hypotonia, Abnormal muscle fiber protein expression, Hypotonia ORPHA:330054
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Hanac Syndrome
Multiple renal cysts, Hematuria, Renal insufficiency ORPHA:73229
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Gen... OMIM:616867
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Short phalanx of finger, Split hand, Split foot OMIM:313350
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Weakness of long finger extensor muscles, Ragged-red muscle fibe... OMIM:160500
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Biliary cirrhosis, Ureteral atresia, Pancreatic cysts, Bile duct proliferation, ... OMIM:208540
Ullrich Congenital Muscular Dystrophy 1
Flexion contracture, Congenital muscular dystrophy, Slender build, Muscle fiber necrosis, General... OMIM:254090
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, Amyotrophy of ankle musculature, Joint contracture of the... ORPHA:399086
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Split foot, Hypoplasia of the ulna, Short finger, Syndactyly OMIM:314360
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Congenital Myopathy With Myasthenic-Like Onset
Minicore myopathy, Multiple joint contractures, EMG: myopathic abnormalities, Type 1 muscle fiber... ORPHA:424107
Myopathy, Myofibrillar, 2
Foot dorsiflexor weakness, Muscle fiber splitting, Limb-girdle muscle weakness, Muscular dystroph... OMIM:608810
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Intestinal malrotation, Abnormal biliary tract morphology, Multicyst... ORPHA:3032
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Distal lower limb muscle weakness, Foot dorsiflexor weakness, Proximal lower limb amyotrophy, Mus... ORPHA:437572
Cenani-Lenz Syndrome
Synostosis of carpal bones, Toe syndactyly, Hypoplasia of the ulna, Finger syndactyly, Oligodacty... ORPHA:3258
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Spasticity, Myopathy OMIM:125250
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Msh3-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Renal cyst, Colon cancer, Neoplasm of the rectum, Uterine leiomyoma, Juveni... ORPHA:480536
Distal Limb Deficiencies-Micrognathia Syndrome
Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Oligodactyly, Tarsal synostosis, Abnorm... ORPHA:1307
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Recurrent urinary tract infections, Renal insufficiency, Stage 5 chr... OMIM:613095
Bardet-Biedl Syndrome 4
Renal cyst, Cryptorchidism, Abnormality of the kidney, External genital hypoplasia, Hypogonadism OMIM:615982
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture, Small for gestational age, Generalized hypotonia, Arthrogryposis multiplex c... OMIM:618484
Myopathy, Distal, 3
Muscular dystrophy, EMG: myopathic abnormalities, Distal amyotrophy, Rimmed vacuoles, Joint contr... OMIM:610099
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy, Hypot... OMIM:607855
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, C... OMIM:613530
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Proximal amyotrophy, Type 1 muscle fiber predominance, Shoulder fle... ORPHA:98902
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst, Multinodular goiter OMIM:138790
Myopathy, Myofibrillar, 7
Achilles tendon contracture, Nemaline bodies, Flexion contracture, Foot dorsiflexor weakness, Mul... OMIM:617114
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Mckusick-Kaufman Syndrome
Rectovaginal fistula, Cryptorchidism, Hydronephrosis, Vaginal atresia, Transverse vaginal septum,... OMIM:236700
Myopathy, Centronuclear, 1
Flexion contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Skeletal mus... OMIM:160150
Myopathy, Myosin Storage, Autosomal Dominant
Shoulder girdle muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, General... OMIM:608358
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cystic renal dysplasia, Cryptorchidism, Abnormality of the kidney, Hepatomegaly OMIM:613730
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Myopathy, Pelvic girdle muscle weakness, Calf mus... ORPHA:119
Femoral-Facial Syndrome
Cryptorchidism, Long penis, Polycystic kidney dysplasia, Abnormal localization of kidney, Renal h... ORPHA:1988
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Increased variability in muscle fiber diameter, Ankle flexion contracture, Knee flexion contractu... OMIM:619461
Dpm3-Cdg
Pelvic girdle muscle weakness, Muscular dystrophy, Rimmed vacuoles, Calf muscle hypertrophy ORPHA:263494
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle amyotrophy, Dystonia, Shoulder girdle muscle atrophy, Limb muscle weakness, Myopath... OMIM:167320
Nemaline Myopathy 5
Nemaline bodies, Proximal amyotrophy, Type 1 muscle fiber predominance, Shoulder flexion contract... OMIM:605355
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Lower limb muscle weakness, Increased variability in muscle fiber diameter, EMG: myopathic abnorm... ORPHA:397744
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Flexion contracture, Failure to thrive in infancy, Axial dystonia, Increased variability in muscl... OMIM:619026
Absent Radius-Anogenital Anomalies Syndrome
Ectrodactyly, Oligodactyly, Hypoplasia of the radius ORPHA:3016
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Cap Myopathy
Lower limb amyotrophy, Lower limb muscle weakness, Generalized amyotrophy, Increased variability ... ORPHA:171881
Peutz-Jeghers Syndrome
Esophageal neoplasm, Abnormality of the ureter, Abnormality of the gastrointestinal tract, Gastro... ORPHA:2869
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
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Macroglossia, Generalized hypotonia, Myopathy, Increased muscle glycoge... ORPHA:254864
Hyperferritinemia With Or Without Cataract
Increased circulating ferritin concentration, Pulverulent cataract, Nuclear cataract OMIM:600886
Meckel Syndrome, Type 9
Multicystic kidney dysplasia, Ambiguous genitalia OMIM:614209
Central Core Disease
Nemaline bodies, Multiple joint contractures, Type 1 muscle fiber predominance, Myopathy, Hypoton... ORPHA:597
Branchiootorenal Syndrome 1
Renal agenesis, High palate, Bifid uvula, Euthyroid goiter, Renal malrotation, Intestinal malrota... OMIM:113650
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia, Hand oligodactyly OMIM:165590
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita OMIM:619334
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Kearns-Sayre Syndrome
Hypotonia, Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Muscle fiber necrosis, Ragged-red muscle fibers, Generalized amyotrophy, Increased variability in... OMIM:258450
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Microcephaly-Micromelia Syndrome
Absent radius, Oligodactyly, Micromelia, Short tibia, Humeroradial synostosis, Forearm undergrowt... OMIM:251230
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
Infantile-Onset X-Linked Spinal Muscular Atrophy
Inflammatory myopathy, Skeletal muscle atrophy, Spinal muscular atrophy, Ankle flexion contractur... ORPHA:1145
Benign Samaritan Congenital Myopathy
Generalized hypotonia, Frog-leg posture, Centrally nucleated skeletal muscle fibers, Internally n... ORPHA:324581
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Intestinal malrotation, Tracheoesophageal fistula, Abno... ORPHA:2973
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting OMIM:609452
Myopathy, Proximal, With Ophthalmoplegia
Muscle fiber inclusion bodies, Myopathy, Scapular winging, Congenital contracture OMIM:605637
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... OMIM:617319
Weyers Ulnar Ray/Oligodactyly Syndrome
Absent thumb, Hand oligodactyly, Hypoplasia of the radius, Proximal radial head dislocation, Prox... OMIM:602418
Ulnar/Fibular Ray Defect And Brachydactyly
Brachydactyly, Toe syndactyly, Bilateral talipes equinovarus, Unilateral ulnar hypoplasia, Fibula... OMIM:608571
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Severe muscular hypotonia, Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myositis, Skeletal muscle atrophy, Myopathy, Rimmed vacuoles, Muscle fiber atrophy, Centrally nuc... OMIM:615422
Congenital Myasthenic Syndromes With Glycosylation Defect
Flexion contracture, Limb-girdle muscle weakness, Ragged-red muscle fibers, Generalized weakness ... ORPHA:353327
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Septate vagina, Hydronephrosis, Uterus didelphy... ORPHA:2237
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Typical Nemaline Myopathy
Nemaline bodies, Flexion contracture, Foot dorsiflexor weakness, Limb-girdle muscle weakness, Inc... ORPHA:171436
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Portal hypertension, Leukocytosis, Cholestasis, Cholangitis, C... ORPHA:53035
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Generalized hypotonia, Increased variability in muscle fiber diameter, Type 2 muscle fiber predom... OMIM:619173
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Generalized aminoaciduria, Renal cortical cysts, Hepatic steatosis, Proximal tubulopa... OMIM:231680
Creatine Phosphokinase, Elevated Serum
Inflammatory myopathy, Muscular dystrophy, EMG: myopathic abnormalities, Myopathy, Abnormal muscl... OMIM:123320
Isolated Polycystic Liver Disease
Abnormality of the pancreas, Gastrointestinal hemorrhage, Gastroesophageal reflux, Polycystic liv... ORPHA:2924
Prune Belly Syndrome
Abnormality of the ureter, Cryptorchidism, Intestinal malrotation, Renal insufficiency, Anal atre... ORPHA:2970
Caroli Syndrome
Cholangitis, Polycystic kidney dysplasia, Intrahepatic cholestasis, Hematemesis, Pancreatitis, Li... ORPHA:480520
Salih Myopathy
Flexion contracture, Myopathy, Facial palsy, Centrally nucleated skeletal muscle fibers, Calf mus... OMIM:611705
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Hand oligodactyly OMIM:276822
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Intrahepatic biliary dysgenesis, Jaundice, Polycystic kidney dysplasia, Hepatomeg... OMIM:214110
Congenital Disorder Of Glycosylation, Type Il
Hepatosplenomegaly, Hepatomegaly, Polycystic kidney dysplasia OMIM:608776
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Renal cyst, Renal hypoplasia, Short uvula, Polycystic kidney dysplasia, Cleft palate... OMIM:614091
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hiatus hernia, Renal cyst, Portal hypertension, Pancreatic cysts, Cholestasis, Pancreatic hypopla... OMIM:610199
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Small for gestational age, Generalized hypotonia, Hypotonia, Centrally nucle... OMIM:615368
Genitopalatocardiac Syndrome
Gonadal dysgenesis, male, Renal cyst, Hypospadias, Cleft palate OMIM:231060
Thomas Syndrome
Multicystic kidney dysplasia, Cleft palate, Renal hypoplasia/aplasia ORPHA:3316
Birt-Hogg-Dube Syndrome
Renal cyst, Renal neoplasm, Colon cancer, Large intestinal polyposis, Renal cell carcinoma OMIM:135150
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Adenocarcinoma of the colon, Uterine leiomyoma, Adenomatous colonic polypos... ORPHA:220460
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Gastrointestinal hemorrhage, Cholestasis, Cholangitis, Polycystic kidney dysplasi... ORPHA:731
Myopathy, Myosin Storage, Autosomal Recessive
Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fib... OMIM:255160
Distal Tetrasomy 15Q
High palate, Horseshoe kidney, Hydronephrosis, Abnormal external genitalia, Dilatation of the ren... ORPHA:314588
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Enuresis, Tubulointerstitial nephritis, Renal tubular atrop... OMIM:603860
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Intestinal malrotation, Hamartoma of tongue, Polycystic kidney dyspl... OMIM:613091
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Flexion contracture, Generalized amyotrophy, Increased variability in muscle fiber diameter, Diap... OMIM:616866
Nephronophthisis 9
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical microcysts OMIM:613824
Classic Multiminicore Myopathy
Right ventricular hypertrophy, Congenital muscular dystrophy, Multiple joint contractures, Genera... ORPHA:324604
Combined Oxidative Phosphorylation Deficiency 12
Spastic tetraparesis, Dystonia, Ragged-red muscle fibers, Failure to thrive, Neonatal hypotonia OMIM:614924
Cataract 15, Multiple Types
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract OMIM:615274
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Decreased serum creatinine OMIM:300539
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus, Periportal fibrosis, Polycystic kidney dysplasia OMIM:263210
Amyotrophic Lateral Sclerosis 21
Increased variability in muscle fiber diameter, Hand muscle weakness, Distal lower limb muscle we... OMIM:606070
Microphthalmia With Limb Anomalies
Toe syndactyly, Single transverse palmar crease, Hand oligodactyly, Postaxial foot polydactyly, F... OMIM:206920
Cataract 47
Microcornea, Cataract OMIM:612018
Marinesco-Sjogren Syndrome
Flexion contracture, Skeletal muscle atrophy, Generalized hypotonia, Failure to thrive, Myopathy,... OMIM:248800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Chronic kidney disease, Neutropenia, Anemia, Nephropathy, Focal segmental glomerulosc... OMIM:617056
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Generalized amyotrophy, Increased variability in muscle fiber diameter, EMG: myopathic abnormalit... ORPHA:52430
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Flexion contracture, Skeletal muscle atrophy, Muscle fiber necrosis, Muscular dystrophy, Calf mus... OMIM:253700
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Rhabdomyolysis, Skeletal muscle atrophy, Muscle fiber necrosis, Ragged-red muscle fibers, Increas... OMIM:157640
Trisomy 17P
High palate, Hydronephrosis, Hypoplasia of penis, Polycystic kidney dysplasia, Macroglossia, Clef... ORPHA:261290
Axial Mesodermal Dysplasia Spectrum
Renal cyst, Abnormality of the ureter, Morphological abnormality of the gastrointestinal tract, A... ORPHA:1834
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastrointestinal hemorrhage, Gastroesophageal reflux, Hepatomegaly, Dysphagi... ORPHA:2198
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Enlarged kidney, Macrovesicular hepatic steatosis, Ureteral duplication, Hydronephro... OMIM:608836
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy, Renal insufficiency ORPHA:1909
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Polycystic liver disease OMIM:174050
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Hepatomegaly OMIM:614870
Renal Tubular Dysgenesis
Proximal tubulopathy, Renotubular dysgenesis, Nephropathy, Multiple renal cysts ORPHA:3033
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... ORPHA:98855
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis, Abnormality of the liver, Hypopituitarism ORPHA:140976
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Tubulointerstitial nephritis, Red-brown urine, Myoglobinuria, Polycystic ... ORPHA:157
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Cystic renal dysplasia, Tubulointerstitial nephritis, Red-brown urine, Myoglob... ORPHA:228308
Multiple Acyl-Coa Dehydrogenase Deficiency
Acute pancreatitis, 3-Methylglutaric aciduria, Lacticaciduria, Hepatic periportal necrosis, Hepat... ORPHA:26791
Syndromic Diarrhea
Hepatoblastoma, Abnormality of the liver, Cirrhosis, Thrombocytosis, Renal hypoplasia, Colitis, S... ORPHA:84064
Meckel Syndrome, Type 1
Renal agenesis, Abnormality of the ureter, Accessory spleen, Cryptorchidism, Bile duct proliferat... OMIM:249000
Poland Syndrome
Unilateral brachydactyly, Unilateral oligodactyly, Hypoplasia of deltoid muscle, Syndactyly OMIM:173800
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Intestinal malrotation, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617866
Tukel Syndrome
Carpal synostosis, Carpal bone aplasia, Postaxial oligodactyly, Syndactyly OMIM:609428
Arima Syndrome
Occipital meningocele, Nephronophthisis, Hepatic steatosis, Hepatomegaly, Polycystic kidney dyspl... OMIM:243910
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Klippel-Trenaunay-Weber Syndrome
Hand polydactyly, Macrodactyly, Hand oligodactyly, Syndactyly OMIM:149000
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
High palate, Renal cyst, Stage 5 chronic kidney disease, Bifid uvula, Cholestasis, Hepatomegaly, ... OMIM:266920
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Skeletal muscle a... OMIM:619518
Meckel Syndrome, Type 10
Micropenis, Renal cyst, Hypospadias, Cleft palate OMIM:614175
Visceral Myopathy 2
Hiatus hernia, Megaduodenum, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... OMIM:619350
Pparg-Related Familial Partial Lipodystrophy
Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy, Calf muscle pse... ORPHA:79083
Short Rib-Polydactyly Syndrome
Abnormality of the liver, Multiple glomerular cysts, Intestinal malrotation, Abnormality of the k... ORPHA:1505
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy, Myopathy ORPHA:2348
Bethlem Myopathy
Achilles tendon contracture, Foot dorsiflexor weakness, Flexion contracture, Multiple joint contr... ORPHA:610
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Y-shaped metacarpals, Short 4th metacarpal, Oligodact... OMIM:146510
Aniridia 2
Cataract, Aniridia OMIM:617141
Scapuloperoneal Spinal Muscular Atrophy
Muscle fiber splitting, Scapuloperoneal amyotrophy, Peroneal muscle atrophy, Peroneal muscle weak... OMIM:181405
Polycystic Kidney, Cataract, And Congenital Blindness
Polycystic kidney dysplasia OMIM:263100
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Cryptorchidism, Intestinal malrotation, Megacystis, Mu... ORPHA:2241
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... ORPHA:98863
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Cleft palate, Renal hypoplasia/aplasia, Vesicoureteral reflux, Multiple renal cysts ORPHA:1166
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... ORPHA:98853
Glycogen Storage Disease Due To Aldolase A Deficiency
Viral infection-induced rhabdomyolysis, Skeletal myopathy, EMG: myopathic abnormalities, Decrease... ORPHA:57
Native American Myopathy
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Arthrogryposis multiplex cong... ORPHA:168572
Cataract 3, Multiple Types
Sutural cataract, Nuclear pulverulent cataract, Developmental cataract, Cerulean cataract OMIM:601547
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets ORPHA:681
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter, EMG: m... ORPHA:502423
Distal Monosomy 12Q
Unilateral cryptorchidism, Ectopic kidney, Micropenis, Hydronephrosis, High, narrow palate, Polyc... ORPHA:96149
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Pancreatic cysts, Decrea... ORPHA:730
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Acrofacial Dysostosis, Rodríguez Type
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Hand oligodactyly, Fibular hypop... ORPHA:1788
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Microgastria-Limb Reduction Defect Syndrome
Phocomelia, Aplastic clavicle, Oligodactyly, Short thumb, Elbow dislocation, Abnormality of the r... ORPHA:2538
Juvenile Amyotrophic Lateral Sclerosis
Hypertonia, Dystonia, Opisthotonus, Skeletal muscle atrophy, Contractures of the joints of the lo... ORPHA:300605
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Micropenis, Intestinal malrotation, Hamartoma of tongue, Polycystic kidney dysplasia, Microglossi... OMIM:263520
Nephronophthisis 4
Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Anemia, Renal tubular atrophy, Renal cor... OMIM:606966
Phelan-Mcdermid Syndrome
High palate, Gastroesophageal reflux, Abnormality of the kidney, Polycystic kidney dysplasia, Ves... OMIM:606232
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Limb-girdle muscle weakness, Muscular dystrophy, Limb muscle weakness, C... OMIM:616812
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Achilles tendon contracture, Skeletal muscle atrophy, Ragged-red muscle fibers, Obesity, EMG: myo... OMIM:615418
Aprosencephaly Syndrome
Hand oligodactyly OMIM:207770
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Polyuria, Tubulointerstitial fibrosis, Tubular basement membrane... OMIM:256100
Microgastria-Limb Reduction Defects Association
Unilateral renal agenesis, Absent gallbladder, Cystic renal dysplasia, Horseshoe kidney, Splenogo... OMIM:156810
Autosomal Dominant Centronuclear Myopathy
Large for gestational age, Proximal muscle weakness in upper limbs, Proximal muscle weakness in l... ORPHA:169189
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis, Cleft palate OMIM:181180
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Generalized hypotonia OMIM:619424
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Acrorenal-Mandibular Syndrome
Renal agenesis, High palate, Abnormality of the ureter, Absent nipple, Uterus didelphys, Bicornua... OMIM:200980
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Muscle fiber necrosis, Ragge... OMIM:607459
Vacterl/Vater Association
Renal agenesis, Ectopic kidney, Abnormality of the pancreas, Abnormality of the gallbladder, Abno... ORPHA:887
Orofaciodigital Syndrome I
Tongue nodules, High palate, Myelomeningocele, Pancreatic cysts, Proteinuria, Lobulated tongue, O... OMIM:311200
Nephronophthisis 3
Enuresis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cy... OMIM:604387
Alagille Syndrome 2
Renal cyst, Renal tubular acidosis, Hematuria, Proteinuria, Cholestasis, Renal hypoplasia, Choles... OMIM:610205
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Cryptorchidism, Anorectal anomaly, Polycystic kidney dysplasia, Abno... ORPHA:567
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Nuclear cataract, Anterior polar cataract, Lamellar cataract OMIM:116800
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal agenesis, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas physiology, ... ORPHA:93111
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Glycosuria, Epididymal cyst, Renal cyst, Exocrine pancreatic insuffici... OMIM:137920
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Bartsocas-Papas Syndrome 1
Absent thumb, Absent palmar crease, Absent radius, Short metacarpal, Short phalanx of finger, Sho... OMIM:263650
Diaphanospondylodysostosis
Myelomeningocele, Cleft palate, Multiple renal cysts ORPHA:66637
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Renal cyst OMIM:228940
Myopathy, Mitochondrial, And Ataxia
Generalized hypotonia, Increased variability in muscle fiber diameter, Distal amyotrophy OMIM:617675
Coach Syndrome 1
Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Portal hypertension, Multi... OMIM:216360
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal cyst, Micropenis, Hydronephrosis, Renal dysplasia, Decreased testicular size OMIM:615287
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Muscular dystrophy, Increased variability in muscle fiber diameter, Macroglossia, Skeletal muscle... OMIM:613150
Tuberous Sclerosis Complex
Renal angiomyolipoma, Renal cyst, Pulmonary lymphangiomyomatosis, Abnormality of the kidney, Chro... ORPHA:805
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Oculopharyngodistal Myopathy 1
Foot dorsiflexor weakness, Increased variability in muscle fiber diameter, EMG: myopathic abnorma... OMIM:164310
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Macrodactyly
Macrodactyly OMIM:155500
Floating-Harbor Syndrome
Epididymal cyst, Renal agenesis, Renal cyst, Nephrocalcinosis, Varicocele, Cryptorchidism, Hydron... ORPHA:2044
Mckusick-Kaufman Syndrome
High palate, Ectopic anus, Glandular hypospadias, Cryptorchidism, Hydronephrosis, Aganglionic meg... ORPHA:2473
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter ORPHA:70595
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Harrod Syndrome
High palate, Malrotation of small bowel, Renal cortical microcysts, Cryptorchidism, Aganglionic m... OMIM:601095
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Congenital Bile Acid Synthesis Defect Type 2
Renal cyst, Fat malabsorption, Hepatic steatosis, Cholestasis, Extramedullary hematopoiesis, Hepa... ORPHA:79303
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Meckel Syndrome, Type 6
Renal cyst, Absent gallbladder, Horseshoe kidney, Bile duct proliferation, Abnormal internal geni... OMIM:612284
15q26 overgrowth syndrome
Renal agenesis, High palate, Horseshoe kidney, Hydronephrosis, Abnormality of the kidney, Duplica... DECIPHER:81
Penile Agenesis
Fetal pyelectasis, Rectal fistula, Urethral atresia, male, Cystic renal dysplasia, Urethral fistu... ORPHA:49
Axial Osteomalacia
Renal cyst, Polycystic liver disease OMIM:109130
Meckel Syndrome, Type 3
Bile duct proliferation, Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ... OMIM:607361
Papillorenal Syndrome
Renal cyst, Horseshoe kidney, Nephrolithiasis, Renal malrotation, Proteinuria, Renal hypoplasia, ... OMIM:120330
Cystic Echinococcosis
Eosinophilia, Renal cyst, Abnormality of the testis size, Abnormality of the pancreas, Biliary tr... ORPHA:400
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal cyst, Nephropathy, Hematuria, Renal insufficiency OMIM:611773
Limb-Mammary Syndrome
Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Oligodactyly, Sy... ORPHA:69085
Meckel Syndrome, Type 2
Bile duct proliferation, Renal cyst, Meningocele, Cleft palate OMIM:603194
Simpson-Golabi-Behmel Syndrome, Type 2
Multicystic kidney dysplasia, High palate, Cleft palate, Micropenis OMIM:300209
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Fibular hypoplasia, Sandal gap, Clinodactyly of the 5th finger, Short ... ORPHA:1106
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Fibular hypoplasia, Mesomelic leg shortening, Hypoplastic iliac wing, Short toe, Hand monodactyly... OMIM:609945
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Renal insufficiency, Vesicourete... ORPHA:1475
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Renal cortical microcysts, Hepatosplenomegaly, Cryptorchidism, Splenomegaly, Intrahep... OMIM:614866
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Roberts Syndrome
High palate, Cryptorchidism, Long penis, Polycystic kidney dysplasia, Thrombocytopenia, Cleft pal... ORPHA:3103
Genitopalatocardiac Syndrome
Gonadal dysgenesis, male, Abnormality of the gallbladder, Cryptorchidism, Multicystic kidney dysp... ORPHA:2075
Joubert Syndrome 20
Renal cyst OMIM:614970
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Adams-Oliver Syndrome 6
Brachydactyly, Foot oligodactyly, Syndactyly OMIM:616589
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Camptodactyly of toe, Joint contracture of the hand OMIM:175700
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Rhabdomyolysis, Flexion contracture, Dystonia, Skeletal muscle atrophy, Ragged-red muscle fibers,... ORPHA:17
Bardet-Biedl Syndrome
Nephrotic syndrome, Cryptorchidism, Hypoplasia of penis, Multicystic kidney dysplasia, Hepatic fi... ORPHA:110
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal cyst, Hepatic steatosis, Renal hypoplasia, Hepatomegaly, Renal dysp... OMIM:614922
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Cataract, Elevated circulating creatinine concentration OMIM:614376
Campomelia, Cumming Type
Abnormality of the pancreas, Pancreatic cysts, Hepatomegaly, Multicystic kidney dysplasia, Abnorm... ORPHA:1318
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Renal cyst OMIM:615583
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Decreased glomerular filtration rate, Renal hypoplasia, Renal salt wasting,... OMIM:174000
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Cholestasis, Hepatomegaly, Asplenia, Hepatic fibrosis OMIM:615415
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal dysplasia, Renal cyst, Ureteral agenesis OMIM:236500
Femoral-Facial Syndrome
Renal agenesis, Hypoplastic labia majora, Cryptorchidism, Micropenis, Gastroesophageal reflux, Po... OMIM:134780
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis, Cryptorchidism, Intestinal pseudo-obstruction ORPHA:73246
17Q12 Microdeletion Syndrome
Renal hypoplasia/aplasia, Cryptorchidism, Shawl scrotum, Ureterocele, Multicystic kidney dysplasi... ORPHA:261265
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Cataract 30, Multiple Types
Pulverulent cataract, Posterior polar cataract, Diffuse nuclear cataract OMIM:116300
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Hyperparathyroidism-Jaw Tumor Syndrome
Renal cyst, Nephrocalcinosis, Renal hamartoma, Nephrolithiasis, Hypercalciuria, Testicular neopla... ORPHA:99880
Senior-Boichis Syndrome
Cholestasis, Reduced number of intrahepatic bile ducts, Anemia, Hyperechogenic kidneys, Stage 5 c... ORPHA:84081
Phocomelia, Schinzel Type
Bowing of the long bones, Hand oligodactyly, Aplasia/Hypoplasia involving the pelvis, Hypoplasia ... ORPHA:2879
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Po... OMIM:200995
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Pancreatic cysts, Chronic pancreatitis, Tubular basement membrane disintegratio... OMIM:613159
Fryns Syndrome
High palate, Ectopic anus, Cryptorchidism, Hydronephrosis, Intestinal malrotation, Gastroesophage... ORPHA:2059
Parathyroid Carcinoma
Renal cyst, Nephrocalcinosis, Renal hamartoma, Nephrolithiasis, Parathyroid carcinoma, Hypercalci... ORPHA:143
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Bor Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Multicystic kidney dysplasia, Ureteropelvic junction ob... ORPHA:107
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Facial palsy, Abnormal muscle fiber morphology, Skeletal muscle atrophy ORPHA:3068
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia, Congenital hepatic fibrosis, Glossoptosis, Meningocele ORPHA:2031
Cornelia De Lange Syndrome
Toe syndactyly, Abnormality of the ulna, Clinodactyly of the 5th finger, Oligodactyly, Elbow disl... ORPHA:199
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Congenital Disorder Of Glycosylation, Type Iit
Astigmatism, Hypotriglyceridemia, Decreased serum creatinine, Decreased HDL cholesterol concentra... OMIM:618885
Trisomy 1Q
Small scrotum, Cryptorchidism, Hydronephrosis, Anal atresia, Multicystic kidney dysplasia, Ambigu... ORPHA:261344
Joubert Syndrome 35
Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections, Renal fibrosis OMIM:618161
Bardet-Biedl Syndrome 17
Renal cyst, Micropenis, Polyuria, Stage 5 chronic kidney disease, Hypogonadism OMIM:615994
Hypocalciuric Hypercalcemia, Familial, Type Iii
Parathormone-independent increased renal tubular calcium reabsorption, Multiple small medullary r... OMIM:600740
Zellweger Syndrome
High palate, Cryptorchidism, Hydronephrosis, Hepatomegaly, Jaundice, Multicystic kidney dysplasia... ORPHA:912
Joubert Syndrome 7
Nephronophthisis, Renal cyst OMIM:611560
Pallister-Hall Syndrome
Brachydactyly, Broad toe, Polydactyly affecting the 3rd finger, Toe syndactyly, Mesoaxial polydac... ORPHA:672
Polymyositis
Hypotonia, Weight loss, Abnormal muscle fiber morphology ORPHA:732
Trisomy 13
Abnormality of the ureter, Abnormal morphology of female internal genitalia, Hydronephrosis, Cryp... ORPHA:3378
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Renal cyst, High palate, Unicornuate uterus, Ur... OMIM:614527
3-Methylglutaconic Aciduria Type 7
Renal cyst, Nephrocalcinosis, Hepatic steatosis, Bone marrow hypocellularity, 3-Methylglutaconic ... ORPHA:445038
Mosaic Trisomy 9
High palate, Horseshoe kidney, Cryptorchidism, Hydronephrosis, Intestinal malrotation, Abnormal l... ORPHA:99776
Von Hippel-Lindau Syndrome
Epididymal cyst, Papillary cystadenoma of the epididymis, Abnormality of the liver, Pancreatic cy... OMIM:193300
Meckel Syndrome, Type 7
Biliary cirrhosis, Portal hypertension, Multiple glomerular cysts, Pancreatic cysts, Cholestasis,... OMIM:267010
Cornelia De Lange Syndrome 1
Hiatus hernia, Hypoplastic labia majora, Ectopic kidney, Renal cyst, Reduced renal corticomedulla...