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Gene: Myoz1 MGI:1929471

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Gene Summary

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

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
polycystic kidney Myoz1tm1b(EUCOMM)Hmgu HOM Late adult 0.00
increased marginal zone B cell number Myoz1tm1b(EUCOMM)Hmgu HOM   Late adult 8.45×10-05
abnormal lean body mass Myoz1tm1b(EUCOMM)Hmgu HOM   Late adult 6.20×10-09
decreased circulating creatinine level Myoz1tm1b(EUCOMM)Hmgu HOM Early adult 1.81×10-05
abnormal urination Myoz1tm1a(EUCOMM)Hmgu HOM   Early adult 7.70×10-05
oligodactyly Myoz1tm1a(EUCOMM)Hmgu HET Early adult 2.24×10-11
enlarged cecum Myoz1tm1b(EUCOMM)Hmgu HOM Late adult 0.00
enlarged seminal vesicle Myoz1tm1b(EUCOMM)Hmgu HOM Late adult 0.00
decreased grip strength Myoz1tm1b(EUCOMM)Hmgu HOM   Early adult 3.85×10-06
abnormal body fat mass Myoz1tm1b(EUCOMM)Hmgu HOM   Late adult 2.53×10-08

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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 Dorso Ventral

26 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 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.

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
Abnormal finger morphology, Abnormal metacarpal morphology, Oligodactyly, Ectrodactyly ORPHA:2730
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormal finger morphology OMIM:187390
Trigger Thumb
Abnormal thumb morphology OMIM:190410
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... OMIM:610713
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Split-Hand/Foot Malformation 6
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Tetramelic Monodactyly
Hand monodactyly, Split hand, Split foot, Foot monodactyly OMIM:187510
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Isolated Split Hand-Split Foot Malformation
Oligodactyly, Absent hand, Split hand, Finger syndactyly ORPHA:2440
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Syndactyly Type 1
2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ... ORPHA:93402
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Fatty re... OMIM:618848
Polyglucosan Body Myopathy 2
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... OMIM:616199
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Oligodactyly, Arachnodactyly, Humeroradial synostosis OMIM:614416
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ge... OMIM:619042
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Split-Hand/Foot Malformation 1
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... OMIM:183600
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Generalized hypotonia, Hypotonia, Myopathy, Scapu... OMIM:616471
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:620402
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:618940
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... OMIM:605820
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Hypo... OMIM:613204
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Myopathy, Weakness of facial musculature, Distal lower limb m... OMIM:617030
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... OMIM:615424
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... OMIM:181400
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Generalized hypotonia, Hypotonia, Limb muscle weakness, Rag... OMIM:500002
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl... ORPHA:2593
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:301075
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Neonatal hypotonia, Hypo... OMIM:616313
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Generalized neonatal hypotonia, Myopathy, Decreased body weight, Type 1 fibers relatively smaller... OMIM:300580
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... OMIM:609115
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:620246
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... ORPHA:34516
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Generalized hypotonia, Muscle fiber atrophy, Type... OMIM:618654
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... OMIM:608099
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hypot... OMIM:616228
Rhabdomyolysis, Susceptibility To, 1
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:620235
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... OMIM:620542
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... OMIM:614321
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Neonatal hypotonia, Myopathy OMIM:609500
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly OMIM:263450
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... OMIM:246570
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Failure to thrive in infancy, Increased intramyoc... OMIM:619065
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253601
Severe X-Linked Mitochondrial Encephalomyopathy
Severe muscular hypotonia, Increased variability in muscle fiber diameter, Skeletal muscle atroph... ORPHA:238329
Bardet-Biedl Syndrome 10
Hypogonadism, Renal cyst, Obesity, Renal insufficiency OMIM:615987
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:608807
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
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
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs ORPHA:1878
Distal Myopathy, Welander Type
Rimmed vacuoles, Distal upper limb amyotrophy, Foot dorsiflexor weakness, Myopathy, Intrinsic han... ORPHA:603
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Failure to thrive, Neonatal hypotonia, Camptodact... OMIM:614399
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... OMIM:605637
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy OMIM:611615
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri... OMIM:300696
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Congenital Myopathy 14
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... OMIM:618414
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc... ORPHA:457050
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Weakn... OMIM:160565
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... ORPHA:1892
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... OMIM:619566
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Weakness of facial musculature, Angulated muscle fibers, Shoulder girdle muscle... OMIM:619477
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Spasticity, Upper limb muscle weakness, Muscle fiber atr... ORPHA:309169
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Flexion contracture, Muscle fibe... OMIM:300718
Nemaline Myopathy 2
Rimmed vacuoles, Hand clenching, Increased variability in muscle fiber diameter, Calf muscle pseu... OMIM:256030
Triphalangeal Thumbs With Brachyectrodactyly
Triphalangeal thumb, Brachydactyly, Split hand, Short 3rd toe, Short 2nd finger, Split foot OMIM:190680
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
RCAD (renal cysts and diabetes)
Abnormality of the liver, Multiple renal cysts DECIPHER:47
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Spasticity, Increased endomysial connective tissue, Lowe... OMIM:620068
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617066
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Hypotonia, Failure to thrive OMIM:613752
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Hypotonia, Type 1 muscle fiber predominance, Weak... OMIM:620161
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... OMIM:616924
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Severe muscular hypotonia, Neonatal hypotonia, My... OMIM:616816
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Nephronophthisis 16
Periportal fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Renal insuffi... OMIM:615382
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus... ORPHA:93323
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Slender finger, Increased endomysial connective t... ORPHA:75840
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Papillary renal cell carci... OMIM:145001
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Abnormality of the uterus, Horseshoe kidney, Vesico... OMIM:617805
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Neonatal hypotonia, Flexion c... OMIM:616470
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Failure to thrive, Left ventricular noncompaction... OMIM:617228
Acrofacial Dysostosis Syndrome Of Rodriguez
Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Single transverse palma... OMIM:201170
Adult-Onset Nemaline Myopathy
Nemaline bodies, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... ORPHA:171442
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... OMIM:605289
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Hypotonia, Type 1 muscle fiber predominance OMIM:614807
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Colonic diverticula, Renal insufficiency, Hepatic cysts OMIM:173900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253700
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Generalized limb muscle atrophy,... ORPHA:171439
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Bardet-Biedl Syndrome 16
Renal agenesis, Hypogonadism, Obesity, Stage 5 chronic kidney disease, Renal insufficiency, Exter... OMIM:615993
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, ... OMIM:600334
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal amyotrophy, Skeletal... OMIM:614302
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:613954
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Abnormal muscle fiber morphology ORPHA:270
Multiminicore Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... ORPHA:598
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617072
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of facial musculature, ... OMIM:619790
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity, External genital hypoplasia, Cryptorchidism, Renal cyst, Abnormality of th... OMIM:615982
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... OMIM:613157
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Generalized ... OMIM:160150
Ectrodactyly-Polydactyly
Split hand, Split foot, Postaxial hand polydactyly OMIM:225290
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Neonatal hypotonia, Weakness of facial musculature, T... ORPHA:596
Mitochondrial Myopathy, Infantile, Transient
Failure to thrive, Generalized hypotonia, Increased muscle lipid content, Ragged-red muscle fiber... OMIM:500009
Zebra Body Myopathy
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Neonatal hypotonia, Myofibrilla... ORPHA:97240
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... OMIM:254130
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Clinodactyly of the 3rd toe, Oligodactyly, Abnormality of the hand, Clinodactyly of the 5th finge... ORPHA:521308
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Cenani-Lenz Syndrome
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Short thumb, Ol... ORPHA:3258
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Neonatal hypotonia, Z-band streami... OMIM:618823
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... OMIM:620249
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Failure to thrive, Neonatal hypotonia, Type 1 fibers ... OMIM:255310
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... OMIM:601846
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... OMIM:618061
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter, Hypotonia OMIM:617915
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Hereditary Continuous Muscle Fiber Activity
Spastic gait, Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont... ORPHA:536516
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Generalized hypotonia, S... OMIM:616867
Meckel Syndrome 13
Flexion contracture, Polycystic kidney dysplasia OMIM:617562
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot OMIM:313350
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the radius, Oligodactyly, Abnormality of the wrist, Abnormal morphology of ... ORPHA:1307
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Muscular dystrophy, Failure to thrive, Neonatal h... OMIM:254090
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Ulnar claw, Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated ... OMIM:608340
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido... ORPHA:98905
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers OMIM:609283
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... ORPHA:353
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, Intrinsic hand muscle atrophy, Weakness of the in... ORPHA:399086
Meckel Syndrome, Type 8
Hyperechogenic kidneys, Ambiguous genitalia, Polycystic kidney dysplasia, Enlarged kidney, Cleft ... OMIM:613885
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Progr... ORPHA:401768
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Infantile axial hypotonia, Hypotonia, Abnormal muscle fiber protein expression ORPHA:330054
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620138
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia, Polycystic liver disease, Polysplenia OMIM:211890
Absent Radius-Anogenital Anomalies Syndrome
Oligodactyly, Hypoplasia of the radius, Ectrodactyly ORPHA:3016
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Failure to thrive OMIM:614096
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Hyperechogenic kidneys, Hepatosplenomegaly, Hypersplenism, Portal hype... OMIM:619902
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... OMIM:310440
Femoral-Facial Syndrome
Long penis, Inguinal hernia, Cryptorchidism, Renal hypoplasia/aplasia, Abnormal localization of k... ORPHA:1988
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Dystonia, Ragged-red muscle fibers, Axial hypotonia OMIM:615159
Myopathy, Distal, 3
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Split hand... OMIM:610099
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... OMIM:608358
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, C... OMIM:613530
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... OMIM:226670
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Intestinal malrotation, Abnormal biliary tract morphology, Abnormal... ORPHA:3032
Renal-Hepatic-Pancreatic Dysplasia 1
Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, Bile duct pro... OMIM:208540
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... OMIM:617114
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Congenital Disorder Of Glycosylation, Type Il
Failure to thrive, Villous atrophy, Splenomegaly, Lipodystrophy, Hepatomegaly, Polycystic kidney ... OMIM:608776
ERI1-related disease
Slender metacarpals, Oligodactyly, Clinodactyly of the 5th finger, Limited elbow extension, Taper... OMIM:608739
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter, Hypotonia OMIM:617235
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Large for gestational age, Nephroblastoma, Hern... ORPHA:314588
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Spasticity, Myopathy OMIM:125250
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Talipes equinovarus, Skeletal muscle atrophy, Mac... OMIM:151800
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Increased variability in muscle fiber diameter, Ankle flexion contracture, Failure to thrive, Elb... OMIM:619461
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Central Core Disease
Nemaline bodies, Hypotonia, Type 1 muscle fiber predominance, Multiple joint contractures, Myopat... ORPHA:597
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Pelvic girdle muscle weakness, Calf muscle hypert... ORPHA:119
Birt-Hogg-Dube Syndrome 1
Renal cyst, Multiple lipomas, Large intestinal polyposis, Renal cell carcinoma, Renal neoplasm, C... OMIM:135150
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Joint contracture of the hand, Clitoral hypertrophy, Failure to thrive, Cryptorchi... OMIM:214110
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Spastic paraplegia, Failure to thrive in infancy,... OMIM:619026
Cap Myopathy
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Generalized hypotonia... ORPHA:171881
Mckusick-Kaufman Syndrome
Hydroureter, Vesicovaginal fistula, Hydrometrocolpos, Transverse vaginal septum, Cryptorchidism, ... OMIM:236700
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Congenital diaphragmatic hernia, Omphalocele, Flexion contracture, Bicornuat... OMIM:263210
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Failure to thrive, Volvulus, Recurrent urinary tract i... ORPHA:2970
Msh3-Related Attenuated Familial Adenomatous Polyposis
Uterine leiomyoma, Stomach cancer, Juvenile gastrointestinal polyposis, Multiple gastric polyps, ... ORPHA:480536
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers, Frog-leg... ORPHA:324581
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic ... OMIM:613095
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Myopathy, Fatty repla... ORPHA:397744
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Leuko... ORPHA:53035
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Bifid uvula, Renal malrotation, Abnormal renal collecting system morph... OMIM:113650
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Arthrogryposis multiplex congeni... OMIM:619334
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Pancreatic adeno... ORPHA:2869
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Humeroradial synostosis, Talipes equinovarus... OMIM:251230
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Stage 5 chronic kidney disease, Cryptorchidism, Hydronephrosis, Rena... OMIM:613390
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Abnorm... ORPHA:2198
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Y-shaped metatarsals, Preaxial hand polydactyly, Dist... OMIM:146510
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities OMIM:609452
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... OMIM:300539
Trisomy 17P
Hydronephrosis, High palate, Macroglossia, Flexion contracture, Urethral valve, Polycystic kidney... ORPHA:261290
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Neonatal hypotonia, Genu valgum,... ORPHA:171436
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Generalized amyotrophy, Generalized hypotonia, Mu... OMIM:616866
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... OMIM:620278
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance, Axial hypotonia... OMIM:619173
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... OMIM:615422
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Spasticity, Hypotonia, Type 1 muscle fiber predom... OMIM:612949
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Neonatal hypotonia, Failure to thrive, Hypotonia OMIM:615595
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Gastroesophageal reflux, Abnormal morphology of female interna... ORPHA:1834
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Renal hypoplasia, Short uvula, Renal cyst, Polycystic kidney dysplasia, High pa... OMIM:614091
Caroli Syndrome
Hypersplenism, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choledochus morphology, Ab... ORPHA:480520
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Vesicoureter... ORPHA:2237
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa... OMIM:123320
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Oligodactyly, Clinodactyly of the 5th finger, Short foot OMIM:619758
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Hepatic periporta... OMIM:231680
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Umbilical hernia, Cholestasis, Portal hyperte... OMIM:610199
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Multiple renal cysts, Hepatomegaly, Polycys... ORPHA:2924
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Muscle fiber atrophy, Ra... OMIM:258450
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hamartoma of tongue, Intestinal malrotation, Ambiguous genitalia, Bifid tongue, Micropenis, Anal ... OMIM:613091
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Intestinal malrotation, Fe... ORPHA:2973
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Elbow flexion contracture, Renal insufficiency, Knee flexion contracture, Lipid ac... OMIM:608836
Thomas Syndrome
Multicystic kidney dysplasia, Cleft palate, Renal hypoplasia/aplasia ORPHA:3316
Meckel Syndrome, Type 9
Multicystic kidney dysplasia, Ambiguous genitalia OMIM:614209
Bardet-Biedl Syndrome 6
External genital hypoplasia, Obesity, Renal cyst, Vaginal atresia, Hypospadias OMIM:605231
Syndromic Diarrhea
Hepatic fibrosis, Renal hypoplasia, Lymphopenia, Abnormality of the liver, Villous atrophy, Ingui... ORPHA:84064
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Familial Adenomatous Polyposis 4
Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Renal cyst, Adenomatous colonic polypos... OMIM:617100
Peroxisome Biogenesis Disorder 5A (Zellweger)
Clitoral hypertrophy, Failure to thrive, Cholestasis, Hepatosplenomegaly, Splenomegaly, Cryptorch... OMIM:614866
Congenital Myopathy 22A, Classic
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620351
Genitopalatocardiac Syndrome
Renal cyst, Hypospadias, Gonadal dysgenesis, male, Cleft palate OMIM:231060
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Congenital contracture, Generalized hypotonia, Hypoto... OMIM:615368
Congenital Disorder Of Glycosylation, Type Ib
Hepatic fibrosis, Protein-losing enteropathy, Proximal tubulopathy, Failure to thrive, Villous at... OMIM:602579
Arima Syndrome
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Hepatic steatosis, Renal sodi... OMIM:243910
Microgastria-Limb Reduction Defect Syndrome
Aplastic clavicle, Elbow dislocation, Short thumb, Ectrodactyly, Oligodactyly, Absent hand, Abnor... ORPHA:2538
Myopathy With Lactic Acidosis, Hereditary
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypotonia, Rhabdomyolysi... OMIM:255125
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Congenital diaphragmatic hernia, Cryptorchidism, Renal hypoplasia/aplasia,... ORPHA:1166
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Microcolon, Hydroureter, Megacystis, Umbilical hernia, Intestinal m... ORPHA:2241
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency ORPHA:1909
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Acute pancreatitis, Glutaric aciduria, Hepatic periportal necrosis, Dy... ORPHA:26791
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
High, narrow palate, Red-brown urine, Dicarboxylic aciduria, Renal insufficiency, Hepatic steatos... ORPHA:228308
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Large intestinal polyposis, Multiple renal cysts, Adenomatous colonic polypos... ORPHA:220460
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Hepatic calcification, Myoglobinuria, Renal tubu... ORPHA:157
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Fatty replacement of skeletal mu... ORPHA:52430
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Increased endomysial connective tissue, Generalized hypotonia, Myopathy, Faci... OMIM:602541
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Nephropathy, Focal segmental glomerulosclerosis, Chronic kidney disease, Renal cyst, Neutropenia,... OMIM:617056
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Hypotonia, Facial palsy, Generalized hypotonia OMIM:616720
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis ORPHA:3033
Distal Deletion 12Q
High, narrow palate, Microglossia, Annular pancreas, Pituitary adenoma, Failure to thrive in infa... ORPHA:96149
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
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
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Intestinal malrotation, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Medullary cystic kidney disease 2
Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedu... OMIM:603860
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614870
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Failure to thrive, Beta 2-microglobulinuria, ... ORPHA:97362
Optic Atrophy 11
Increased variability in muscle fiber diameter, Hypotonia, Facial diplegia, Bilateral talipes equ... OMIM:617302
Meckel Syndrome, Type 1
Abnormality of the ureter, Cryptorchidism, Anal atresia, Polycystic kidney dysplasia, Bile duct p... OMIM:249000
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Polycystic liver disease OMIM:174050
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insu... OMIM:604387
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Megacystis, Intestinal pseudo-obstruction, ... OMIM:619350
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Absent thumb, Short thumb, Oligodactyly, Hypoplastic iliac wing, Ulnar bowi... OMIM:263650
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Hypotonia, Limb dystonia, Myopathy OMIM:604377
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Joubert Syndrome 39
Overweight, Polycystic kidney dysplasia, Joint contracture of the 5th finger OMIM:619562
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Phelan-Mcdermid Syndrome
Cellulitis, Gastroesophageal reflux, Vesicoureteral reflux, Abnormality of the kidney, High palat... OMIM:606232
Acrorenal-Mandibular Syndrome
Narrow palate, Absent nipple, Renal agenesis, Uterus didelphys, Aplasia of the bladder, Elbow fle... OMIM:200980
Rhyns Syndrome
Hypopituitarism, Abnormality of the liver, Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Muscular dystrophy, Generalized hypotonia, Hypotonia OMIM:616538
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia OMIM:613730
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Vacterl/Vater Association
Hypospadias, Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Bifid scro... ORPHA:887
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ra... OMIM:157640
Hajdu-Cheney Syndrome
Failure to thrive, Umbilical hernia, Intestinal malrotation, Inguinal hernia, Cryptorchidism, Ren... OMIM:102500
Native American Myopathy
Skeletal muscle atrophy, Congenital contracture, Muscle fiber atrophy, Hypotonia, Talipes equinov... ORPHA:168572
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy ORPHA:2348
Joubert Syndrome 18
Horseshoe kidney, Renal cyst, Intrahepatic biliary atresia, Camptodactyly, Cleft palate, Lobulate... OMIM:614815
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
22Q11.2 Deletion Syndrome
Cryptorchidism, Hypoparathyroidism, Anal atresia, Polycystic kidney dysplasia, Hypospadias, Chole... ORPHA:567
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Epidermal Nevus Syndrome
Lipoma, Polycystic kidney dysplasia ORPHA:35125
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Pparg-Related Familial Partial Lipodystrophy
Abnormality of skeletal muscle fiber size, Calf muscle pseudohypertrophy, Myopathy, Skeletal musc... ORPHA:79083
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Microglossia, Hamartoma of tongue, Intestinal malrotation, Ambiguous genitalia,... OMIM:263520
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Failure to thrive, Extramedullary hematopoiesis, Cholestasis, Dark urine, H... ORPHA:79303
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts, Failure to thrive OMIM:614883
Mayer-Rokitansky-Kuster-Hauser Syndrome
Multicystic kidney dysplasia, Hematocolpos, Abnormal female external genitalia morphology, Reduce... OMIM:277000
Meckel Syndrome, Type 2
Intestinal malrotation, Renal cyst, Omphalocele, Bile duct proliferation, Cleft palate OMIM:603194
Hypokalemic Periodic Paralysis
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology ORPHA:681
Orofaciodigital Syndrome I
Hepatic fibrosis, Hamartoma of tongue, Ankyloglossia, Hepatic cysts, Ovarian cyst, Proteinuria, E... OMIM:311200
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Failure to thrive, Hydrometrocolpos, Glandular hypospadias, Cryptor... ORPHA:2473
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Generalized hypotonia OMIM:619424
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Lethal Congenital Contracture Syndrome 9
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... OMIM:616503
Glycogen Storage Disease Vii
Increased variability in muscle fiber diameter, Increased muscle glycogen content OMIM:232800
Tuberous Sclerosis Complex
Chronic kidney disease, Pituitary adenoma, Pheochromocytoma, Stage 5 chronic kidney disease, Pulm... ORPHA:805
Hoxha-Aliu Syndrome
Short fifth metatarsal, Short distal phalanx of finger, Abnormal epiphysis morphology, Short 4th ... OMIM:620662
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Abscess, Hepatic c... ORPHA:400
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration OMIM:179830
Limb-Mammary Syndrome
Toe syndactyly, Oligodactyly, Clinodactyly of the 5th finger, 3-4 finger cutaneous syndactyly, Sy... ORPHA:69085
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Generalized hypotonia, Weakness of facial muscula... ORPHA:502423
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Gastroesophageal reflux, Volvulus, H... OMIM:301111
Parathyroid Carcinoma
Nephrocalcinosis, Chondrocalcinosis, Peptic ulcer, Renal hamartoma, Parathyroid carcinoma, Pancre... ORPHA:143
Meckel Syndrome 14
Hepatic fibrosis, Ambiguous genitalia, Polycystic kidney dysplasia, Aplasia of the uterus OMIM:619879
Floating-Harbor Syndrome
Precocious puberty, Varicocele, Nephrocalcinosis, Gastroesophageal reflux, Dilatation of the rena... ORPHA:2044
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Coach Syndrome 1
Hepatic fibrosis, Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cys... OMIM:216360
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Alagille Syndrome 2
Cholestatic liver disease, Renal hypoplasia, Cholestasis, Renal insufficiency, Renal tubular acid... OMIM:610205
Roberts Syndrome
Clitoral hypertrophy, Long penis, Cryptorchidism, Knee flexion contracture, Wrist flexion contrac... ORPHA:3103
Bardet-Biedl Syndrome 12
Hydroureter, Hydrometrocolpos, Hypogonadism, Obesity, Hydronephrosis, Vaginal atresia, Cystic ren... OMIM:615989
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Skele... OMIM:607459
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypospadias, Multicystic kidney dysplasia, Acute kidney injury, Absent vas deferens, Renal agenes... ORPHA:93111
Meckel Syndrome, Type 10
Malformation of the hepatic ductal plate, Bifid uvula, Renal cyst, Micropenis, Camptodactyly, Hyp... OMIM:614175
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hamartoma of tongue, Congenital diaphragmatic hernia, Micropenis, Polycystic kidney dysplasia, Cl... OMIM:616546
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Chondrocalcinosis, Peptic ulcer, Renal hamartoma, Pancreatic adenocarcinoma, Ab... ORPHA:99880
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Baller-Gerold Syndrome
Radial deviation of the hand, Absent thumb, Patellar hypoplasia, Carpal synostosis, Oligodactyly,... OMIM:218600
Mody
Nephropathy, Pancreatic hypoplasia, Glycosuria, Exocrine pancreatic insufficiency, Obesity, Large... ORPHA:552
Hypocalciuric Hypercalcemia, Familial, Type Iii
Peptic ulcer, Chondrocalcinosis, Hypocalciuria, Multiple small medullary renal cysts, Renal insuf... OMIM:600740
Ogden Syndrome
Narrow palate, Polycythemia, Umbilical hernia, Hydrocele testis, Decreased testicular size, Ingui... OMIM:300855
Renal Cysts And Diabetes Syndrome
Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypoplasia of the u... OMIM:137920
Say Syndrome
Cleft palate, Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Foot dorsifle... OMIM:164310
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
15q26 overgrowth syndrome
Duplication of renal pelvis, Renal agenesis, Camptodactyly of finger, Horseshoe kidney, Vesicoure... DECIPHER:81
Adams-Oliver Syndrome 6
Foot oligodactyly, Brachydactyly, Syndactyly OMIM:616589
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Generalized hypotonia OMIM:617675
Macrodactyly
Macrodactyly OMIM:155500
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Abnormal mesentery morphology, Abnormality of the gallbladder, Cong... ORPHA:2075
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Congenital contracture, Sever... OMIM:613150
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Overlapping fingers, Femoral bowing, Talipes equi... OMIM:617022
Nephronophthisis 1
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:256100
Nephronophthisis 4
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... OMIM:606966
Histidinemia
Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia OMIM:235800
Microphthalmia With Limb Anomalies
Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot polydactyly, Elbow disloc... ORPHA:1106
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers ORPHA:70595
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Hypotonia, Muscle fiber splitting, Myopathy OMIM:611881
Fryns Syndrome
Multicystic kidney dysplasia, Gastroesophageal reflux, Intestinal malrotation, Vesicoureteral ref... ORPHA:2059
Trisomy 1Q
Small scrotum, Multicystic kidney dysplasia, Camptodactyly of finger, Congenital diaphragmatic he... ORPHA:261344
Cornelia De Lange Syndrome
Small hand, Toe syndactyly, Short 1st metacarpal, Micromelia, Elbow dislocation, Oligodactyly, Bi... ORPHA:199
Pallister-Hall Syndrome
Broad thumb, Toe syndactyly, Radial bowing, Supernumerary metacarpal bones, Polydactyly affecting... ORPHA:672
Diaphanospondylodysostosis
Multiple renal cysts, Cleft palate ORPHA:66637
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Failure to thrive, Ragge... ORPHA:17
Bardet-Biedl Syndrome 17
Hypogonadism, Obesity, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis OMIM:615994
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Anorectal anomaly, Unilateral ... ORPHA:49
Joubert Syndrome 20
Renal cyst OMIM:614970
Meckel Syndrome, Type 6
Hepatic fibrosis, Aplasia of the bladder, Horseshoe kidney, Absent gallbladder, Hepatic cysts, Re... OMIM:612284
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Fryns Syndrome
Joint contracture of the hand, Cryptorchidism, Anal atresia, Hypospadias, Duodenal atresia, Renal... OMIM:229850
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Multicystic kidney dysplasia, Hepatom... OMIM:607361
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... ORPHA:1475
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Hypoplastic colon, Omphalocele, Pancreatic fibrosis, Hepatomegaly,... OMIM:200995
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Obesity, Hydronephrosis, Anal atresia, T... OMIM:620511
Kleefstra Syndrome
Gastroesophageal reflux, Supernumerary nipple, Obesity, Vesicoureteral reflux, Renal insufficienc... ORPHA:261494
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Duodenal atresia, Bifid scrotum, Cryptorchidism, Nephroblastoma, Re... OMIM:257300
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Renal cyst, Small for gestational age, Cleft palate OMIM:615583
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Hypotriglyceridemia, Decreased HDL cholesterol concentration OMIM:618885
Meckel Syndrome, Type 5
Renal cyst, Bile duct proliferation, Cleft palate OMIM:611561
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
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
Harrod Syndrome
Multicystic kidney dysplasia, Failure to thrive, Cryptorchidism, High palate, Hypospadias ORPHA:2115
Campomelia, Cumming Type
Multicystic kidney dysplasia, Abnormal intestine morphology, Multiple renal cysts, Hepatomegaly, ... ORPHA:1318
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... OMIM:120330
Trisomy 13
High, narrow palate, Abnormal morphology of female internal genitalia, Abnormality of the ureter,... ORPHA:3378
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Ureteral agenesis, Renal cyst, Arthrogryposis multiplex congenita, Renal dysplasia OMIM:236500
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Ureterocele, Renal insufficiency, Cryptorchidism, Renal hypoplasia/... ORPHA:261265
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Cryptorchidism, Fetal megacystis ORPHA:73246
Axial Osteomalacia
Renal cyst, Polycystic liver disease OMIM:109130
Joubert Syndrome 7
Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611560
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Gastroesophageal reflux, Shoulder flexion contracture, Failure to thrive, Elbow... OMIM:210710
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Cryptorchidism, Hypoplastic labia majora, High palate, Ectopic k... OMIM:122470
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency OMIM:611773
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Anteriorly placed anus, Enamel hypoplasia, Thrombocytopenia, Campto... OMIM:619980
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Stage 5 chronic... OMIM:267010
Tyrosinosis
Hypertyrosinemia OMIM:276800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D... OMIM:174000
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration OMIM:608104
Zellweger Syndrome
Multicystic kidney dysplasia, Clitoral hypertrophy, Failure to thrive, Cryptorchidism, Hydronephr... ORPHA:912
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Proximal tubulopathy, Failure to thrive, Villous atrophy, Hepatic steatosis, Ab... OMIM:212065
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Trisomy X
Precocious puberty, Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Femoral-Facial Syndrome
Abnormal renal collecting system morphology, Gastroesophageal reflux, Renal agenesis, Camptodacty... OMIM:134780
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections OMIM:618161
Bor Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... ORPHA:107
Mosaic Trisomy 9
Hypoplastic female external genitalia, Abnormality of the uterus, Camptodactyly of finger, Horses... ORPHA:99776
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal insufficiency, Hepatic steatosis, Renal tubular acidosis, Renal cyst, Hep... OMIM:614922
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Nephrocalcinosis, Hydroureter, Ureteral stenosis, Large for gestational age, Renal cyst, Hypercal... OMIM:615398
3-Methylglutaconic Aciduria Type 7
Bone marrow hypocellularity, Nephrocalcinosis, Infection associated neutropenia, Renal insufficie... ORPHA:445038
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Short femur OMIM:601357
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Alveolar Echinococcosis
Biliary cirrhosis, Cutaneous abscess, Abnormal mesentery morphology, Portal hypertension, Hepatic... ORPHA:284
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Gastroesophageal reflux, Failure to thrive in infancy, Bilateral cl... OMIM:618829
Von Hippel-Lindau Syndrome
Polycythemia, Pheochromocytoma, Multiple renal cysts, Renal cell carcinoma, Hepatic hemangioma, P... OMIM:193300
Trisomy 20P
Umbilical hernia, Camptodactyly of finger, Abnormality of the ureter, Inguinal hernia, Cryptorchi... ORPHA:261318
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia, Glossoptosis, Congenital hepatic fibrosis ORPHA:2031
Phocomelia, Schinzel Type
Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi... ORPHA:2879
Genitopatellar Syndrome
Small scrotum, Multicystic kidney dysplasia, Gastroesophageal reflux, Clitoral hypertrophy, Crypt... ORPHA:85201
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Failure to thrive, Low-molecular-weight pr... ORPHA:18
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... OMIM:615415
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Unilateral renal agenesis, Gastroesophageal reflux, Failure to thrive,... ORPHA:464311
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Failure to thrive, Lymphopenia, Corneal scarring, Vesicoureteral reflux, Hydron... OMIM:618460
Marden-Walker Syndrome
Abnormal penis morphology, Hypospadias, Multicystic kidney dysplasia, Abnormality of the urinary ... ORPHA:2461
Ulbright-Hodes Syndrome
Abnormal penis morphology, Renal hypoplasia, Clitoral hypertrophy, Enlarged labia minora, Cryptor... ORPHA:3404
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Unilateral renal agenesis, Gastroesophageal reflux, Failure to thrive, Duodenal atre... ORPHA:464306
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Renal cyst, Inguinal hernia, Cryptorchidism ORPHA:166035
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Ectrodactyly, Camptodactyly of finger, Oligodactyly, Abnormality of the hand, Abnormal pelvis bon... ORPHA:2273
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Umbilical hernia, Supernumerary nipple, Obesity, Congenital diaphra... ORPHA:1001
Roberts-Sc Phocomelia Syndrome
Accessory spleen,