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Gene: Lamc1 MGI:99914

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

laminin, gamma 1

Synonyms:

laminin B2, Lamb2

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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.

Phenotype associated images not available

Human diseases caused by Lamc1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Lamc1 (0 diseases)
Human diseases predicted to be associated with Lamc1 (1894 diseases)

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

The table below shows human diseases predicted to be associated to Lamc1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Spinal Muscular Atrophy, Type Iv	Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ...	OMIM:271150
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Lower limb muscle weakness, Angulated muscle fibers, Decreased number of large peripheral myelina...	OMIM:608340
Spastic Paraplegia With Neuropathy And Poikiloderma	Demyelinating sensory neuropathy, Demyelinating motor neuropathy, Spastic paraplegia, Distal amyo...	OMIM:182815
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel...	OMIM:607734
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Skeletal muscle atrophy, Peripheral axonal neuropathy, Limb muscle weakness, Onion bulb formation...	OMIM:620378
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:619733
Roussy-Levy Hereditary Areflexic Dystasia	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Upper limb postural...	OMIM:180800
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination, Thenar muscle...	OMIM:606483
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus...	OMIM:620286
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Upper limb muscle weakness, Distal amyotrophy, Axonal degeneration/regeneration, Segmental periph...	OMIM:607791
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental...	OMIM:606482
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Fatty replacement of skeletal muscle, Babinski sign, Hand tremor, Distal amyotrophy, Hammertoe, F...	OMIM:618279
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne...	OMIM:615424
Renal Agenesis	Renal insufficiency, Absent vas deferens, Renal agenesis, Proteinuria, Unilateral renal agenesis,...	ORPHA:411709
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Vocal cord pares...	OMIM:614895
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Decreased number of peripheral myelinated nerve fibers, Upper limb muscle weakness, Distal amyotr...	OMIM:607677
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Foot dorsif...	OMIM:118210
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk...	OMIM:254110
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Foot dorsiflexor weakn...	OMIM:607731
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Distal lower limb amyotrophy, Hammertoe, Distal upper limb amyotrophy, Axonal regeneration, Dista...	OMIM:615185
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased number of peripheral myelinated nerve fibers, Ulnar claw, Split hand, Distal amyotrophy...	OMIM:118200
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Autosomal Recessive Spastic Paraplegia Type 43	Ankle flexion contracture, Babinski sign, Knee flexion contracture, Poor fine motor coordination,...	ORPHA:320370
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased number of peripheral myelinated nerve fibers, Foot dorsiflexor weakness, Tremor, Flexio...	OMIM:609260
Polyglucosan Body Myopathy 2	Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we...	OMIM:616199
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617760
Rhabdomyolysis, Susceptibility To, 1	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,...	OMIM:620235
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am...	OMIM:158600
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Distal lo...	OMIM:302800
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Peripheral axonal neuropathy, Ataxia, Involuntary movements, Centrally nucleated ...	ORPHA:401768
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I...	OMIM:117000
Sandhoff Disease, Adult Form	Tremor, Focal dystonia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Gait...	ORPHA:309169
Myopathy, Distal, Tateyama Type	Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ...	OMIM:614321
Charcot-Marie-Tooth Disease, Type 4K	Skeletal muscle atrophy, Ataxia, Axonal loss, Dystonia, Peripheral demyelination	OMIM:616684
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated...	OMIM:616852
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Ulnar claw, Segment...	OMIM:118220
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic...	OMIM:608423
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle...	OMIM:618655
Spinocerebellar Ataxia Type 43	Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Limb ...	ORPHA:497764
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Peripheral axonal degeneration, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,...	ORPHA:101097
Myopathy, Centronuclear, 4	Frequent falls, Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers	OMIM:614807
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Proximal ...	OMIM:607706
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl...	OMIM:618129
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu...	OMIM:601846
Spastic Paraplegia 55, Autosomal Recessive	Lower limb spasticity, Peripheral axonal neuropathy, Tibialis anterior muscle atrophy, Lower limb...	OMIM:615035
Charcot-Marie-Tooth Disease, Type 4H	Decreased number of peripheral myelinated nerve fibers, Distal lower limb amyotrophy, Small hypot...	OMIM:609311
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Parkinsonism, Paraparesis, Glios...	OMIM:105550
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Dista...	OMIM:608673
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Distal amyotrophy, Fiber type grouping	OMIM:614369
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Upper limb muscle weakness, Distal amyotrophy, Peripheral hypomyelination, Onion bulb formation, ...	OMIM:605253
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Charcot-Marie-Tooth Disease, Type 4A	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop...	OMIM:214400
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib...	OMIM:619178
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Onion bulb formation, Ataxia, Segmental peripheral demyelination/remyelination, Gait ataxia, Dist...	OMIM:601098
Inclusion Body Myositis	Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red...	ORPHA:611
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Tongue fascicul...	OMIM:618823
Muscular Dystrophy, Limb-Girdle, Type 1H	Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ...	OMIM:613530
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Onion bulb formation, Foot dorsiflexor weakness	OMIM:616039
Bardet-Biedl Syndrome 16	Recurrent respiratory infections, Renal insufficiency, Renal agenesis, External genital hypoplasi...	OMIM:615993
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap...	OMIM:608358
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc...	OMIM:612999
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers	OMIM:618992
Nonaka Myopathy	Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu...	OMIM:605820
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Frequent falls, Achilles t...	OMIM:620068
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera...	OMIM:145900
Charcot-Marie-Tooth Disease Type 2B1	Hand muscle atrophy, Peroneal muscle atrophy, Hand muscle weakness, Axonal degeneration, Axonal l...	ORPHA:98856
Myasthenic Syndrome, Congenital, 14	Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged...	OMIM:616228
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ...	OMIM:618848
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Tremor, Paraparesis, Optic atrophy, Skeletal muscle hypertrophy	ORPHA:99014
Congenital Myopathy 18	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e...	OMIM:620246
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Upper limb muscle weakness, Paraparesis, Distal amyotrophy, Foot dorsiflexor weakness	OMIM:302802
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Hand muscle atrophy, Skeletal muscle atrophy, Peripheral demyelination	ORPHA:99944
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower...	OMIM:617030
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Talipes equinovarus, Weakne...	OMIM:181400
Mitochondrial Myopathy With Diabetes	Ataxia, Facial palsy, Ragged-red muscle fibers, Babinski sign, Limb muscle weakness, Proximal amy...	OMIM:500002
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Distal amyotrophy, Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyel...	OMIM:311070
X-Linked Charcot-Marie-Tooth Disease Type 3	Distal lower limb amyotrophy, Peripheral axonal neuropathy, Demyelinating peripheral neuropathy, ...	ORPHA:101077
Neuropathy, Hereditary Motor And Sensory, Russe Type	Distal lower limb amyotrophy, Claw hand deformity, Paralysis, Decreased number of large periphera...	OMIM:605285
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect, Retinal dysplasia	OMIM:615041
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ...	OMIM:617087
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased number of peripheral myelinated nerve fibers, Foot dorsiflexor weakness, Upper limb mus...	OMIM:605588
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Hand muscle atrophy, Onion bulb formation, Facial palsy, Flexion contracture, Distal amyotrophy, ...	OMIM:607684
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P...	OMIM:601954
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Elbow contracture, Toe jo...	OMIM:620310
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson...	ORPHA:275872
Welander Distal Myopathy	Distal amyotrophy, Rimmed vacuoles	OMIM:604454
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Distal amyotrophy, Foot dorsiflexor weakness, Peripheral demyelination, Axonal degeneration/regen...	OMIM:607736
Lethal Congenital Contracture Syndrome 8	Flexion contracture, Vocal cord paralysis, Facial diplegia, Distal amyotrophy, Distal arthrogrypo...	OMIM:616287
Myopathy, Myofibrillar, 5	Abnormal peripheral nervous system morphology, Myofibrillar myopathy, Muscle fiber cytoplasmatic ...	OMIM:609524
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d...	OMIM:609115
Neuropathy, Hereditary, With Liability To Pressure Palsies	Hand muscle weakness, Vocal cord paralysis, Segmental peripheral demyelination/remyelination	OMIM:162500
Charcot-Marie-Tooth Disease, Type 4B2	Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel...	OMIM:604563
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Acute demyelinating polyneuropathy, Distal lower limb muscle weakness, Onion bulb formation, Gait...	ORPHA:98916
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Proxima...	OMIM:604484
Giant Axonal Neuropathy 2, Autosomal Dominant	Distal amyotrophy, Peripheral axonal neuropathy, Onion bulb formation, Hammertoe	OMIM:610100
Autosomal Recessive Spastic Paraplegia Type 67	Lower limb spasticity, Babinski sign, Limb tremor, Generalized amyotrophy, Abnormal myelination, ...	ORPHA:401820
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, A...	ORPHA:93111
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H...	ORPHA:178464
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability...	OMIM:613204
Charcot-Marie-Tooth Disease, Type 4C	Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe...	OMIM:601596
Bardet-Biedl Syndrome 10	Renal insufficiency, Hypogonadism, Renal cyst	OMIM:615987
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Peripheral axonal degeneration, Skeletal muscle atrophy, Resting tremor, Incoordination, Ataxia, ...	OMIM:615157
Spastic Ataxia 5, Autosomal Recessive	Spastic ataxia, Ataxia, Lower limb muscle weakness, Dysmetria, Distal amyotrophy, Dysdiadochokine...	OMIM:614487
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm...	ORPHA:397946
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Tremor, Ragged-red muscle fibers, Increased intramuscula...	ORPHA:276435
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Proximal renal tubular a...	OMIM:146255
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy, Calf muscle hy...	ORPHA:86812
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased number of peripheral myelinated nerve fibers, Distal lower limb amyotrophy, Axonal dege...	OMIM:600882
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Aplas...	OMIM:266810
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t...	OMIM:617805
Neuropathy, Congenital Hypomyelinating, 2	Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Facial diplegia,...	OMIM:618184
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Lower limb muscle weakness, Ragged-red muscle fibers, Lower limb amyotrophy, Babinski sign, Upper...	OMIM:616924
Charcot-Marie-Tooth Disease Type 4G	Peripheral axonal neuropathy, Upper limb amyotrophy, Distal amyotrophy, Talipes equinovarus, Dist...	ORPHA:99953
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617072
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Clumsiness, Myopathy, Di...	ORPHA:603
Androgen Insensitivity, Partial	Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad...	OMIM:312300
Macdermot-Winter Syndrome	Death in infancy, Intrauterine growth retardation, Hydronephrosis, Hypoplastic male external geni...	OMIM:247990
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f...	OMIM:615422
Charcot-Marie-Tooth Disease, Type 4B1	Facial palsy, Irregular myelin loops, Distal amyotrophy, Talipes equinovarus, Myelin outfoldings	OMIM:601382
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa...	OMIM:611705
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase...	OMIM:617066
Paraparetic Variant Of Guillain-Barré Syndrome	Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination	ORPHA:231445
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur...	ORPHA:320406
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El...	OMIM:273250
Autosomal Recessive Spastic Paraplegia Type 57	Distal lower limb amyotrophy, Spastic paraplegia, Optic atrophy, Babinski sign, Abnormal myelinat...	ORPHA:431329
Oculopharyngodistal Myopathy 2	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of...	OMIM:618940
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Proximal muscle weakness in uppe...	OMIM:613954
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ...	OMIM:618484
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Ataxia, Babinski sign, Spastic diplegia, Myoclonus, Increased intramyocellular lipid droplets, Dy...	OMIM:619065
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Renal agenesis, Ectopic kidney, Azoospermia, Bicornuate uterus, Renal dysplasia, Aplasia/hypoplas...	ORPHA:2578
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Death in infancy, Unilateral renal agenesis, Anomalous origin of left coronary artery from the pu...	OMIM:618845
Benign Samaritan Congenital Myopathy	Internally nucleated skeletal muscle fibers, Fasciculations, Centrally nucleated skeletal muscle ...	ORPHA:324581
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus...	OMIM:620138
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari...	OMIM:255320
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu...	OMIM:619042
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy	OMIM:616209
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Charcot-Marie-Tooth Disease, Type 4J	Ankle flexion contracture, Axonal loss, Distal arthrogryposis, Peripheral hypomyelination, Freque...	OMIM:611228
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased number of large peripheral myelinated nerve fibers, Distal amyotrophy, Hammertoe	OMIM:615376
Peroxisome Biogenesis Disorder 8B	Lower limb spasticity, Ataxia, Clonus, Rigidity, Babinski sign, Optic atrophy, Limb tremor, Dysme...	OMIM:614877
Subacute Inflammatory Demyelinating Polyneuropathy	Symmetric peripheral demyelination, Demyelinating motor neuropathy, Tremor, Abnormality of the ca...	ORPHA:206594
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca...	OMIM:608099
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal...	OMIM:158330
Severe X-Linked Mitochondrial Encephalomyopathy	Skeletal muscle atrophy, Involuntary movements, Tongue fasciculations, Increased variability in m...	ORPHA:238329
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal pyramidal sign, Peripheral demyelination, Leukodystrophy	DECIPHER:59
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia,...	OMIM:601076
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc...	ORPHA:266
Null Syndrome	Ataxia, Optic atrophy, CNS hypomyelination, Progressive spastic quadriplegia, Peripheral demyelin...	ORPHA:280234
Congenital Myopathy 3 With Rigid Spine	Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil...	OMIM:602771
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Hypoparathyroidism, Renal insufficiency, Unilateral renal agenesis, Septate vagi...	ORPHA:2237
Distal Myopathy With Anterior Tibial Onset	Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h...	ORPHA:178400
Spinocerebellar Ataxia 18	Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait a...	OMIM:607458
Methionine Adenosyltransferase I/Iii Deficiency	CNS demyelination, Peripheral demyelination, Dystonia	OMIM:250850
Neurodegeneration With Brain Iron Accumulation 6	Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Spastic paraparesis, Or...	OMIM:615643
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Short metacarpal, Ataxia, Centrally nucleated skeletal muscle fibers, Co...	OMIM:248800
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe...	OMIM:619473
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Ataxia, Parkinsonism, Rigidity, Chorea, Abnormal pyramidal sign, Axonal loss, Abnormality of extr...	OMIM:617672
Merrf	Myopathy, Ragged-red muscle fibers, Optic atrophy, Ataxia	ORPHA:551
Meckel Syndrome 14	Occipital encephalocele, Pneumothorax, Pulmonary hypoplasia, Aplasia of the uterus, Polycystic ki...	OMIM:619879
Leukodystrophy, Hypomyelinating, 5	Onion bulb formation, Lower limb muscle weakness, Truncal titubation, Babinski sign, Abnormal pyr...	OMIM:610532
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Peripheral axonal degeneration, Ataxia, Acute rhabdomyolysis, Chorea, Axonal degeneration, Split ...	OMIM:604168
Congenital Bilateral Absence Of Vas Deferens	Absent vas deferens, Abnormal renal morphology, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Myopathy, Myofibrillar, 3	Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic...	OMIM:609200
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg...	OMIM:606693
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,...	OMIM:616812
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc...	OMIM:619477
Alpers-Huttenlocher Syndrome	Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa...	ORPHA:726
Branchiootorenal Syndrome 2	Renal insufficiency, Renal dysplasia	OMIM:610896
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Centrally nucleated skeletal muscle fibers, Tremor, Intrinsic hand muscle atrophy, Polyminimyoclo...	OMIM:619574
Lower Limb Malformation-Hypospadias Syndrome	Abnormality of the ureter, Hypospadias	ORPHA:2487
Chronic Inflammatory Demyelinating Polyneuropathy	Hand muscle weakness, Peripheral demyelination, Segmental peripheral demyelination/remyelination	ORPHA:2932
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Distal lower limb amyotrophy, Claw hand deformity, Axonal loss, Distal upper limb amyotrophy, Ham...	OMIM:614455
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased number of peripheral myelinated nerve fibers, Split hand, Distal amyotrophy, Talipes eq...	OMIM:607831
Inclusion Body Myositis	Inflammatory myopathy, Rimmed vacuoles	OMIM:147421
X-Linked Centronuclear Myopathy	Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of...	ORPHA:596
Hereditary Continuous Muscle Fiber Activity	Ataxia, Congenital diaphragmatic hernia, Slurred speech, Type 1 muscle fiber predominance, Spasti...	ORPHA:972
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil...	OMIM:614527
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, H...	ORPHA:3109
Humero-Radio-Ulnar Synostosis	Abnormality of the ureter, Abnormality of the upper urinary tract	ORPHA:3266
Myopathy, Tubular Aggregate, 1	Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi...	OMIM:160565
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Delayed CNS myelination, Ataxia, Paraparesis, Delayed myelination, Oromoto...	OMIM:617854
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Decreased number of peripheral myelinated nerve fibers, Slurred speech, Clumsiness, Diaphyseal dy...	ORPHA:2386
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis, Cryptorchidism, Hypogonadism, Testicular seminoma	ORPHA:281090
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop...	OMIM:255160
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:...	OMIM:253601
Myopathy, Centronuclear, 2	Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ...	OMIM:255200
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Facial palsy, Truncal titubation, Rigidity, Chorea, Babinski sign, Abnormal pyramidal sign, Parap...	OMIM:607483
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Oculopharyngodistal Myopathy 4	Autophagic vacuoles, Postural tremor, Fatty replacement of skeletal muscle, Tremor, Increased var...	OMIM:619790
Striatonigral Degeneration, Infantile, Mitochondrial	Incoordination, Poor motor coordination, Clonus, Chorea, Ragged-red muscle fibers, Babinski sign,...	OMIM:500003
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Peripheral axonal neuropathy, Ataxia, Lower limb muscle weakness, Dysmetria, Spastic dysarthria, ...	ORPHA:313772
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Skeletal muscle atrophy, Ataxia, Tongue fasciculations, Type 1 muscle fiber predominance, Dystoni...	OMIM:618276
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari...	OMIM:608807
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi...	OMIM:620386
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th...	OMIM:137920
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Distal amyotrophy, Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neur...	ORPHA:2821
Prune Belly Syndrome	Recurrent respiratory infections, Renal insufficiency, Multicystic kidney dysplasia, Hydroureter,...	ORPHA:2970
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Ataxia, Ragged-red muscle fibers, Myopathy, Myoclonus, Spasticity	OMIM:545000
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Absent external genitalia, Urethral atresia, Aplasia of the vagina, Pulmonary hypoplasia, Aplasia...	OMIM:271520
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Distal lower limb amyotrophy, Decreased number of large peripheral myelinated nerve fibers, Axona...	ORPHA:90103
Spinal Muscular Atrophy, Type Ii	Skeletal muscle atrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cell...	OMIM:253550
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T...	OMIM:616313
Spastic Ataxia 4, Autosomal Recessive	Spastic ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gait ataxia, Lower limb hypertonia, Up...	OMIM:613672
Charcot-Marie-Tooth Disease Type 4A	Limited interphalangeal movement, Frequent falls, Hand muscle weakness, Decreased number of large...	ORPHA:99948
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter	OMIM:302045
Charcot-Marie-Tooth Disease Type 1B	Skeletal muscle hypertrophy, Skeletal muscle atrophy, Peripheral axonal neuropathy, Peripheral dy...	ORPHA:101082
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Abnormality of the ureter, Aplasia/Hy...	ORPHA:1046
Charcot-Marie-Tooth Disease, Type 4B3	Skeletal muscle atrophy, Syndactyly, Lower limb muscle weakness, Upper limb muscle weakness, Myel...	OMIM:615284
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, External genital hypoplasia, Cryptorchidism, Stage 5 chronic kidne...	OMIM:613390
Congenital Myopathy 4A, Autosomal Dominant	Type 1 fibers relatively smaller than type 2 fibers, Limb joint contracture, Facial palsy, Centra...	OMIM:255310
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ...	OMIM:612736
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Unilateral renal agenesis, Patent ductus arteriosus, Ambiguous genit...	OMIM:618142
Spinocerebellar Ataxia Type 25	Decreased number of large peripheral myelinated nerve fibers, Babinski sign, Gait ataxia, Spastic...	ORPHA:101111
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein...	ORPHA:90797
Bardet-Biedl Syndrome 4	External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hypogonadism	OMIM:615982
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo...	ORPHA:457050
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Limb muscle weakness, In...	ORPHA:486815
Renal Tubular Dysgenesis	Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephropath...	ORPHA:3033
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Ataxia, Ragged-red muscle fibers, Athetosis, Abnormality of extrapyramidal motor function, Dystonia	OMIM:615159
Oligomeganephronia	Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal ag...	ORPHA:2260
Zebra Body Myopathy	Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr...	ORPHA:97240
Mitochondrial Complex I Deficiency, Nuclear Type 21	Ataxia, Babinski sign, Ragged-red muscle fibers, Myopathy, Leukodystrophy, Spasticity	OMIM:618242
Aneurysm, Intracranial Berry, 12	Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial...	OMIM:618734
Mast Syndrome	Incoordination, Babinski sign, Spastic paraplegia, Athetosis, Dysdiadochokinesis, Hypertonia, Spa...	OMIM:248900
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Flexion contracture, Increased variability in muscle fiber diameter, Frequent falls, Muscle fiber...	OMIM:300718
Spastic Paraplegia 11, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Lower limb spast...	OMIM:604360
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Thenar muscle atrophy, Dysmetria, Dysdiadochokinesis, Distal lower limb muscle weakness, Inteross...	OMIM:619903
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S...	OMIM:300696
Adult Krabbe Disease	Ataxia, Progressive spastic paraparesis, Hoffmann sign, Babinski sign, Clumsiness, Upper limb mus...	ORPHA:206448
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Combined Oxidative Phosphorylation Deficiency 6	Skeletal muscle atrophy, Involuntary movements, Ragged-red muscle fibers, Tetraplegia, Tongue fas...	OMIM:300816
Inverted Duplicated Chromosome 15 Syndrome	Unilateral renal agenesis, Precocious puberty, Cryptorchidism, Gonadal dysgenesis, Hypogonadism, ...	ORPHA:3306
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Dystonia,...	OMIM:167320
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
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Long...	ORPHA:169186
Thrombocytopenia-Absent Radius Syndrome	Abnormality of the kidney, Horseshoe kidney, Aplasia of the uterus, Axial malrotation of the kidn...	ORPHA:3320
Myopathy, Myofibrillar, 8	Scapular winging, Frequent falls, Centrally nucleated skeletal muscle fibers, Achilles tendon con...	OMIM:617258
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Autophagic vacuoles	OMIM:609500
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Oculopharyngeal Muscular Dystrophy	Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology	ORPHA:270
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter	ORPHA:1878
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Spastic tetraparesis, Babinski sign, Gait ataxia, CNS demyelination, Peripheral demyelination	OMIM:249900
Autosomal Recessive Primary Microcephaly	Vesicoureteral reflux, Unilateral renal agenesis	ORPHA:2512
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Distal amyo...	OMIM:607250
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc...	OMIM:605355
Image Syndrome	Hypospadias, Cryptorchidism, Hypogonadism, Intrauterine growth retardation, Hydronephrosis	ORPHA:85173
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo...	ORPHA:90793
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Centrally nucleated skeletal muscle fibers, Hand muscle w...	OMIM:606070
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Skeletal muscle atrophy, Peripheral axonal neuropathy, Axonal degeneration, Craniofacial dystonia...	OMIM:620011
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Miyoshi Muscular Dystrophy 1	Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet...	OMIM:254130
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Patent ductus arteriosus, Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis	OMIM:617661
Adult-Onset Nemaline Myopathy	Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Bradyk...	ORPHA:171442
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy	OMIM:609283
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Unilateral renal agenesis	OMIM:244200
Intellectual Developmental Disorder, Autosomal Recessive 71	Cryptorchidism, Micropenis, Unilateral renal agenesis	OMIM:618504
Myopathy, Distal, 3	Split hand, Clumsiness, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Join...	OMIM:610099
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno...	OMIM:618654
Cardiomyopathy, Dilated, 1X	Calf muscle hypertrophy, Increased variability in muscle fiber diameter	OMIM:611615
Cerebral Cavernous Malformations	Intracranial hemorrhage, Retinal vascular malformation, Cerebral cavernous malformation	OMIM:116860
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A...	OMIM:619566
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive g...	ORPHA:254343
Cystic Fibrosis	Recurrent respiratory infections, Absent vas deferens, Pneumothorax, Bronchiectasis, Nephrolithia...	ORPHA:586
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Abnormality of the urinary system, Hydronephrosis	ORPHA:2669
Autosomal Recessive Spastic Paraplegia Type 55	Skeletal muscle atrophy, Lower limb spasticity, Lower limb muscle weakness, Optic neuropathy, Tib...	ORPHA:320375
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial I...	OMIM:613496
Bethlem Myopathy 2	Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter	OMIM:616471
X-Linked Charcot-Marie-Tooth Disease Type 2	Distal lower limb amyotrophy, Optic disc pallor, Clasp-knife sign, Tibialis anterior muscle atrop...	ORPHA:101076
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Peripheral axonal neuropathy, Centrally nucleated skelet...	ORPHA:169189
Williams-Beuren Region Duplication Syndrome	Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Cryptorchidism,...	OMIM:609757
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ...	OMIM:603689
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Segmental peripheral demyelination/remyelination, Talipes cavus equinovarus,...	OMIM:601455
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Ataxia, Involuntary movements, Decreased number of large peripheral myelinated nerve fibers, Babi...	OMIM:271245
Spastic Ataxia, Charlevoix-Saguenay Type	Progressive truncal ataxia, Spastic ataxia, Swan neck-like deformities of the fingers, Ataxia, Pe...	OMIM:270550
Autosomal Dominant Spastic Paraplegia Type 73	Distal lower limb amyotrophy, Lower limb spasticity, Progressive spastic paraparesis, Babinski si...	ORPHA:444099
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Diabetic Embryopathy	Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Tetralogy of Fallot, Spinal dysra...	ORPHA:1926
Slowed Nerve Conduction Velocity, Autosomal Dominant	Onion bulb formation, Peripheral demyelination	OMIM:608236
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Endometriosis, Unilateral renal agenesis, Patent ductus arter...	OMIM:613680
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Renal salt wasting, Female ...	ORPHA:168558
Myopathy, Centronuclear, 5	Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers	OMIM:615959
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Unilateral renal agenesis	OMIM:235740
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ...	OMIM:612937
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Split hand, Intrinsic hand muscle atrophy, Clumsiness, Amyo...	ORPHA:399086
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Renal salt wasting, Female ...	ORPHA:289548
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Torticollis, Frequent falls, Abnormal muscle fiber morphology, Flexion contracture, Elb...	ORPHA:75840
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Axonal dege...	OMIM:618138
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis	OMIM:312910
Posterior Column Ataxia With Retinitis Pigmentosa	Skeletal muscle atrophy, Flexion contracture of finger, Ataxia, Optic atrophy, Camptodactyly, Joi...	OMIM:609033
Meckel Syndrome, Type 9	Ambiguous genitalia, Occipital encephalocele, Multicystic kidney dysplasia	OMIM:614209
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Babinski sign, Axonal loss, Gliosis, Myoclonus, Apraxia, Spasticity, Peripheral demyelination	OMIM:221770
Congenital Absence Of Upper Arm And Forearm With Hand Present	Abnormal lung morphology, Stillbirth, Renal agenesis, Congenital malformation of the great arteries	ORPHA:294975
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Myoclonus, Intractable, Neonatal	Optic disc pallor, Delayed CNS myelination, Chorea, Athetosis, Myoclonus, Increased variability i...	OMIM:617235
Braddock Syndrome	Intrauterine growth retardation, Pulmonary fibrosis, Unilateral renal agenesis	ORPHA:52047
Microphthalmia, Syndromic 9	Renal malrotation, Pulmonary artery atresia, Cryptorchidism, Agenesis of pulmonary vessels, Paten...	OMIM:601186
Complement Component 3 Deficiency, Autosomal Recessive	Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneu...	OMIM:613779
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Renal hypoplasia/aplasia, Cryptorchidism, Tetralogy of Fallot, Abnormal aortic morphology, Multip...	ORPHA:1166
Camos Syndrome	Nephrotic syndrome, Renal insufficiency	ORPHA:83472
Leukodystrophy, Hypomyelinating, 2	Ataxia, Facial palsy, Demyelinating motor neuropathy, Head titubation, Rigidity, Babinski sign, O...	OMIM:608804
Bardet-Biedl Syndrome 19	Renal insufficiency, External genital hypoplasia, Patent ductus arteriosus, Renal hypoplasia, Hyp...	OMIM:615996
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature	OMIM:617069
Bardet-Biedl Syndrome 18	Renal insufficiency, Stage 5 chronic kidney disease	OMIM:615995
Lessel-Kubisch Syndrome	Renal insufficiency, Hypogonadism, Renal hypoplasia	OMIM:618681
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Truncus arteriosus, Unilateral renal agenesis	OMIM:601355
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Tetraplegia/tetraparesis, Demyelinating motor neuropathy, Progressive spastic paraparesis, Babins...	ORPHA:506353
Ehlers-Danlos Syndrome, Classic-Like	Vesicoureteral reflux, Ambiguous genitalia, female, Bicornuate uterus, Unilateral renal agenesis	OMIM:606408
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decreased m...	OMIM:615490
Spinocerebellar Ataxia 28	Parkinsonism, Ragged-red muscle fibers, Babinski sign, Limb ataxia, Gait ataxia, Lower limb hyper...	OMIM:610246
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p...	ORPHA:98902
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Ragged-red muscle fibers...	OMIM:160500
Cardiac-Urogenital Syndrome	Bifid scrotum, Penoscrotal hypospadias, Unilateral cryptorchidism, Cryptorchidism, Patent ductus ...	OMIM:618280
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Genitopalatocardiac Syndrome	Hypospadias, Renal cyst, Right aortic arch, Transposition of the great arteries, Gonadal dysgenes...	OMIM:231060
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi...	OMIM:253700
Neurofibromatosis, Familial Spinal	Symmetric spinal nerve root neurofibromas, Paraparesis, Neurofibroma, Plexiform neurofibroma, Low...	OMIM:162210
Nemaline Myopathy 2	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Frequent falls, Thenar muscle atrophy, Fa...	OMIM:256030
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Coarctation of aorta, Persistent lef...	OMIM:618494
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology	OMIM:602114
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Rhabdomyolysis, Skeletal muscle atrophy, Peripheral axonal neuropathy, Ragged-red muscle fibers	OMIM:617070
Spastic Paraplegia 75, Autosomal Recessive	Distal lower limb amyotrophy, Babinski sign, Optic atrophy, Abnormal pyramidal sign, Dysmetria, S...	OMIM:616680
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Pulmonary hypoplasia...	OMIM:236500
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Centrally nucleated skeletal muscle ...	OMIM:619518
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy	OMIM:159050
Bardet-Biedl Syndrome 14	Renal insufficiency	OMIM:615991
Congenital Myopathy 10A, Severe Variant	Facial palsy, Camptodactyly of finger, Diaphragmatic paralysis, Increased variability in muscle f...	OMIM:614399
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Renal cyst	OMIM:614870
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea...	OMIM:300580
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Ambiguous genitalia, Renal agenesis, Unilateral renal agenesis, Ectopic kidn...	OMIM:617641
King-Denborough Syndrome	Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle fiber atroph...	OMIM:619542
Kallmann Syndrome With Spastic Paraplegia	Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Micropenis, Testicular ...	OMIM:308750
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Renal hypoplasia, Aplasia of the uterus, Intrauterine growth retardati...	OMIM:614083
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox...	OMIM:614302
Spastic Paraplegia 48, Autosomal Recessive	Lower limb spasticity, Ataxia, Parkinsonism, Spastic paraplegia, Dysmetria, Spastic paraparesis, ...	OMIM:613647
Congenital Myopathy 6 With Ophthalmoplegia	Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ...	OMIM:605637
Giant Axonal Neuropathy 1, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Facial palsy, Spastic paraplegia, Abnorma...	OMIM:256850
Emanuel Syndrome	Recurrent respiratory infections, Recurrent urinary tract infections, Truncus arteriosus, Unilate...	OMIM:609029
Internal Carotid Absence	Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage	ORPHA:981
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating luteinizing hormone...	ORPHA:99429
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Azoosper...	OMIM:308700
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Pulmonary hypoplasia, Renal dysplasia	ORPHA:3032
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Tangier Disease	Peripheral axonal neuropathy, Facial diplegia, Distal amyotrophy, Left ventricular hypertrophy, P...	OMIM:205400
Joubert Syndrome 15	Retinopathy, Retinal dystrophy, Exencephaly	OMIM:614464
Dpm3-Cdg	Babinski sign, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed...	ORPHA:263494
Congenital Myopathy 14	Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ...	OMIM:618414
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Multicystic kidney dysplasia, Pulmonary fibrosis	ORPHA:2111
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Peripheral axonal degeneration, Ataxia, Decreased number of large peripheral myelinated nerve fib...	OMIM:208920
Dural Sinus Malformation	Papilledema, Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Hydrocephalus, Cerebellar ...	ORPHA:97339
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Peripheral axonal neuropathy, Scapular winging, Ataxia, Centrally nuclea...	OMIM:607459
Spinocerebellar Ataxia 40	Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In...	OMIM:616053
Krabbe Disease	Optic atrophy, Hypertonia, Decerebrate rigidity, Progressive spasticity, CNS demyelination, Perip...	OMIM:245200
Neuromyelitis Optica Spectrum Disorder	Peripheral demyelination, Paraplegia	ORPHA:71211
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Renal malrotation, Death in infancy, Spina bifida, Pancreatic cysts, Patent...	OMIM:274000
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Skeletal muscle atrophy, Hand muscle weakness, Demyelinating motor neuropath...	ORPHA:101085
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Unilateral renal agenesis, Multiple small medullary renal...	OMIM:216360
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea...	OMIM:191800
Urofacial Syndrome 1	Recurrent urinary tract infections, Urethral valve, Hydroureter, Cryptorchidism, Urethral obstruc...	OMIM:236730
Childhood-Onset Nemaline Myopathy	Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at...	ORPHA:171439
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ...	OMIM:620265
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Ambiguous genitalia, Renal agenesis, Ectopic kidney, C...	ORPHA:3027
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Ragged-red muscle fibers, Ataxia, Hemiplegia/hemiparesis	ORPHA:480
Bladder Exstrophy And Epispadias Complex	Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy, Bifid cl...	OMIM:600057
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Death in infancy, Ectopic kidney, Cryptorchidism, Neonatal death, Cystic renal dysplasia	OMIM:613730
Congenital Myopathy 15	Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased variability in muscle fiber...	OMIM:620161
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystrophy, Muscle fi...	OMIM:603511
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Skeletal muscle atrophy, Decreased number of large peripheral myelinated nerve fibers, Hand tremo...	OMIM:162400
Coenzyme Q10 Deficiency, Primary, 8	Left ventricular hypertrophy, Flexion contracture, Peripheral demyelination	OMIM:616733
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Aplasia of the vagina, Hypoplastic aortic arch, Unilateral renal agenesis	ORPHA:457284
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormal peripheral myelination, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongu...	ORPHA:466768
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen...	ORPHA:363444
Aneurysm, Intracranial Berry, 1	Intracranial hemorrhage, Dilatation of the cerebral artery	OMIM:105800
Aneurysm, Intracranial Berry, 2	Subarachnoid hemorrhage, Cerebral berry aneurysm	OMIM:608542
Spinal Arachnoiditis	Spastic paraparesis	OMIM:182950
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Skeletal muscle atrophy, Peripheral axonal neuropathy, Axonal degeneration/regeneration, Tapered ...	OMIM:218000
Spastic Paraparesis-Deafness Syndrome	Hemiplegia/hemiparesis, Ataxia, Spastic paraparesis	ORPHA:2815
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i...	OMIM:613157
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Frequent falls, Achilles tendon contracture, Upp...	ORPHA:353
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Facial palsy, Parkinsonism, Rigidity, Ragged-red muscle fibers, Optic at...	OMIM:258450
Autosomal Recessive Spastic Paraplegia Type 25	Paraparesis, Spastic paraplegia	ORPHA:101005
Primary Angiitis Of The Central Nervous System	Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis	ORPHA:140989
Myasthenic Syndrome, Congenital, 12	Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy	OMIM:610542
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Ataxia, Rhabdomyolysis, Ragged-red muscle fibers, Choreoathetosis, Dystonia, Weakness of facial m...	OMIM:618416
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Autosomal Recessive Spastic Paraplegia Type 35	Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Babinski sign, Optic atrophy, ...	ORPHA:171629
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Bilateral renal agenesis, Intraute...	OMIM:617914
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Nephrosialidosis	Renal insufficiency, Bone-marrow foam cells, Nephrotic syndrome, Death in childhood, Nephropathy	OMIM:256150
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Peripheral axonal neuropathy, Spinal muscular atrophy, Flexion contractu...	OMIM:616867
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Myopathy, Myofibrillar, 2	Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati...	OMIM:608810
Spastic Paraplegia 20, Autosomal Recessive	Lower limb spasticity, Ulnar deviation of the hand, Flexion contracture, Babinski sign, Spastic p...	OMIM:275900
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne...	ORPHA:598
Familial Cervical Artery Dissection	Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral...	ORPHA:36382
Penoscrotal Transposition	Hypospadias, Renal agenesis, Abnormal external genitalia, Abnormality of the urethra, Penoscrotal...	ORPHA:2842
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn...	OMIM:300559
Emanuel Syndrome	Recurrent respiratory infections, Truncus arteriosus, Unilateral renal agenesis, Cryptorchidism, ...	ORPHA:96170
Matthew-Wood Syndrome	Cryptorchidism, Abnormal lung morphology, Renal hypoplasia, Horseshoe kidney, Aplasia/Hypoplasia ...	ORPHA:2470
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Absent vas deferens	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Absent vas deferens	OMIM:277180
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co...	OMIM:620351
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Chopra-Amiel-Gordon Syndrome	Unilateral renal agenesis	OMIM:619504
Vacterl/Vater Association	Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hyposp...	ORPHA:887
Indomethacin Embryofetopathy	Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology	ORPHA:1909
Retinitis Pigmentosa 59	Cryptorchidism, Renal insufficiency, Intrauterine growth retardation, Micropenis	OMIM:613861
Rudiger Syndrome	Death in infancy, Ureterovesical stenosis, Ovarian cyst, Bicornuate uterus, Micropenis	OMIM:268650
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Spastic ataxia, Peripheral axonal neuropathy, Spinal muscular atrophy, Spastic tetraparesis, Prog...	ORPHA:496756
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, M...	ORPHA:347
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Dilation of Virchow-Robin spaces, Unilateral renal agenesis, Supernumerary nipple, Cryptorchidism...	OMIM:619951
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph...	OMIM:616470
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis	OMIM:161900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy, Vascular dil...	OMIM:617056
Cat-Eye Syndrome	Intrauterine growth retardation, Hydronephrosis, Abnormal localization of kidney, Renal hypoplasi...	ORPHA:195
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Increased variability in muscle fiber diameter, Ataxia, Gait ataxia	OMIM:617915
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:2613
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Optic atrophy, Myopathy, Increased variability in muscle fiber diameter, Spasticity	OMIM:125250
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Optic atr...	ORPHA:254886
Leukodystrophy, Hypomyelinating, 3	Appendicular spasticity, Sudanophilic leukodystrophy, Abnormal pyramidal sign, Leukodystrophy, Sp...	OMIM:260600
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Congenital Myopathy 19	Cryptorchidism, Renal atrophy, Hydronephrosis	OMIM:618578
X-Linked Adrenoleukodystrophy	Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis,...	ORPHA:43
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Distal lower limb amyotrophy, Thenar muscle atrophy, Babinski sign, Spastic paraparesis, Distal l...	OMIM:500013
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Ataxia, Symmetric peripheral demyelination, Babinski sign, Pseudobulbar paralysis, Gliosis, Leuko...	OMIM:169500
Adrenoleukodystrophy	Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Truncal ataxia, Low...	OMIM:300100
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Torticollis, Ataxia, Cerebral dysmyelination, Dysmyelinating leukodystrophy, Spastic tetraplegia,...	OMIM:609136
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, 3-Methylglutaconic aciduria, Pulmonary hypoplasia	OMIM:615228
Distal Myotilinopathy	EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib...	ORPHA:98911
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Phocomelia, Schinzel Type	Hypoplasia of penis, Cryptorchidism, Meningocele, Aplasia of the uterus, Intrauterine growth reta...	ORPHA:2879
Nephronophthisis	Renal insufficiency	ORPHA:655
Burn-Mckeown Syndrome	Renal hypoplasia, Unilateral renal agenesis	OMIM:608572
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Type 2 muscle fiber predominance, Myoclonus	OMIM:619028
Branchiootorenal Syndrome 1	Branchial cyst, Renal malrotation, Branchial fistula, Unilateral renal agenesis, Renal steatosis,...	OMIM:113650
Mitochondrial Myopathy, Infantile, Transient	Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen...	OMIM:500009
Cerebral Amyloid Angiopathy, App-Related	Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he...	OMIM:605714
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ...	OMIM:310440
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Unilateral renal agenesis, Patent ductus arteriosus, Proximal tubulopathy, Intr...	OMIM:614576
Nephronophthisis-Like Nephropathy 2	Recurrent respiratory infections, Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5...	OMIM:619468
Meckel Syndrome 12	Ureteral hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Bilateral renal agenesis, Intrau...	OMIM:616258
Spastic Paraplegia Type 7	Optic disc pallor, Ragged-red muscle fibers, Optic atrophy, Abnormal pyramidal sign, Babinski sig...	ORPHA:99013
Amyotrophic Lateral Sclerosis 20	Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles	OMIM:615426
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Clitoral hypertrophy, Hypogonadotropic hypogonadism, Abnormal external genita...	ORPHA:90794
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur...	ORPHA:2704
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,...	ORPHA:1834
Trisomy 13	Cryptorchidism, Patent ductus arteriosus, Abnormality of the ureter, Abnormal lung lobation, Mult...	ORPHA:3378
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ataxia, Ragged-red muscle fibers, Flexion contracture, Optic atrophy, Truncal ataxia, Babinski si...	OMIM:252011
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Radial-Renal Syndrome	Unilateral renal agenesis, Ectopic kidney	OMIM:179280
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Podocyte foot p...	OMIM:615008
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal...	ORPHA:1145
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
Distal Triplication 15Q	Abnormal external genitalia, Abnormality of the kidney, Patent ductus arteriosus, Hypoplastic aor...	ORPHA:314588
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus...	OMIM:612965
Vitamin B12-Unresponsive Methylmalonic Acidemia	Ataxia, Paraparesis, Optic atrophy, Choreoathetosis, Tetraparesis	ORPHA:27
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, ...	ORPHA:300605
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hydronephrosis, Gonadal dysgenesis, Hypo...	OMIM:154230
Tetraploidy	Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Hydronephrosis, Renal hypoplasi...	ORPHA:3305
Lethal Congenital Contracture Syndrome 5	Congenital contracture, Flexion contracture, Centrally nucleated skeletal muscle fibers	OMIM:615368
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Fatty replacement of skeletal muscle, Tremor, Vocal cord paralysis, Myopathy, Increased variabili...	ORPHA:397744
Jeune Syndrome	Aplasia/Hypoplasia of the lungs, Nephropathy, Renal insufficiency, Nephronophthisis	ORPHA:474
Combined Oxidative Phosphorylation Defect Type 7	Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Peripheral axona...	ORPHA:254930
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Coffin-Siris Syndrome 1	Recurrent respiratory infections, Hydroureter, Hypospadias, Ectopic kidney, Cryptorchidism, Paten...	OMIM:135900
Hogue-Janssen Syndrome 2	Unilateral renal agenesis	OMIM:616362
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Intrauterine growth retardation, Ureteral dysgenesis, Renal agenesis	OMIM:274265
Meckel Syndrome, Type 6	Occipital encephalocele, Abnormal internal genitalia, Absent gallbladder, Bilobed right lung, Ane...	OMIM:612284
Muscle Filaminopathy	Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m...	ORPHA:171445
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Multiple pulmonary cysts, Spontaneous pneumothorax, Renal cyst, Renal cell carcinoma	OMIM:135150
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia, Multinodular goiter	ORPHA:2091
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cryptorchidism, Patent ductus arteriosus, Hydronephrosis	OMIM:619797
Alport Syndrome	Thickening of glomerular capillary wall, Mesangial hypercellularity, Nephritis, Tubulointerstitia...	ORPHA:63
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado...	OMIM:194072
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Fatty replacem...	ORPHA:329478
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
Metachromatic Leukodystrophy	Ataxia, Chorea, Babinski sign, Optic atrophy, Spastic tetraplegia, Tetraplegia, Dystonia, Periphe...	OMIM:250100
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis	OMIM:264140
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Amyotrophic Lateral Sclerosis 27, Juvenile	Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intr...	OMIM:620285
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Hydrocephalus	ORPHA:398189
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl...	OMIM:617666
Diffuse Neonatal Hemangiomatosis	Patent ductus arteriosus, Renal insufficiency, Abnormal vagina morphology, Renal hypoplasia/aplasia	ORPHA:2123
Coach Syndrome 3	Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht...	OMIM:619113
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Spinocerebellar Ataxia 25	Decreased number of peripheral myelinated nerve fibers, Ataxia, Babinski sign, Facial myokymia, O...	OMIM:608703
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Nephronophthisis 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy	OMIM:611498
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Distal Duplication 6P	Abnormal lung lobation, Renal hypoplasia, Abnormality of the urinary system, Intrauterine growth ...	ORPHA:1745
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Talipes cavus equinovarus, Abnormality of the calf musculature, Proximal...	ORPHA:59135
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania...	OMIM:273800
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Unilateral renal agenesis	OMIM:206750
Complement Factor H Deficiency	Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g...	OMIM:609814
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Polycystic kidney dysplasia, Ambiguous genitalia, Hyperec...	OMIM:613885
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Bardet-Biedl Syndrome 6	Vaginal atresia, Hypospadias, External genital hypoplasia, Renal cyst	OMIM:605231
Cerebrotendinous Xanthomatosis	Abnormal tibia morphology, Axonal degeneration, Abnormal finger morphology, Abnormal femur morpho...	ORPHA:909
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic...	OMIM:263200
Silver-Russell Syndrome 1	Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, Abnormality o...	OMIM:180860
Congenital Factor V Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:326
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Hydronephrosis	ORPHA:251076
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Hydroureter, Hydronephrosis	OMIM:618240
Autosomal Recessive Spastic Paraplegia Type 11	Peripheral axonal neuropathy, Ataxia, Parkinsonism, Paraparesis, Generalized limb muscle atrophy,...	ORPHA:2822
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis...	OMIM:610205
Circumvallate Placenta Syndrome	Intracranial hemorrhage	OMIM:215550
Neurocutaneous Melanocytosis	Intracranial hemorrhage, Abnormality of retinal pigmentation, Meningocele, Chorioretinal coloboma	ORPHA:2481
Cerebral Amyloid Angiopathy, Cst3-Related	Intracranial hemorrhage, Stroke, Cerebral hemorrhage	OMIM:105150
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Hypertonia, Left ventricular noncompaction, Incre...	OMIM:617228
Spinocerebellar Ataxia Type 40	Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis, Intention tremor	ORPHA:423275
Short Stature, Microcephaly, And Endocrine Dysfunction	Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Renal hypoplasia, Intrauterine growth ...	OMIM:616541
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Abnormality of the ureter, Neoplasm of th...	ORPHA:2869
Caudal Duplication	Abnormal penis morphology, Ureteral duplication, Spina bifida, Renal hypoplasia/aplasia, Cryptorc...	ORPHA:1756
Laurence-Moon Syndrome	Renal insufficiency, Hypoplasia of penis, Displacement of the urethral meatus, Cryptorchidism	ORPHA:2377
Preeclampsia	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Polycystic ovaries, Intrauterine ...	ORPHA:275555
Immunodeficiency 91 And Hyperinflammation	Death in infancy, Renal insufficiency, Membranoproliferative glomerulonephritis, Hemolytic-uremic...	OMIM:619644
Reversible Cerebral Vasoconstriction Syndrome	Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub...	ORPHA:284388
X-Linked Intellectual Disability, Schimke Type	Vesicoureteral reflux, Hydronephrosis	ORPHA:85285
Pagod Syndrome	Encephalocele, Death in infancy, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/apl...	ORPHA:991
Isolated Polycystic Liver Disease	Multiple renal cysts, Vascular dilatation	ORPHA:2924
3-Methylglutaconic Aciduria Type 3	Choreoathetosis, Ataxia, Spastic paraparesis	ORPHA:67047
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Increased variability in muscle fiber diameter	OMIM:616816
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Joubert Syndrome 4	Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop...	OMIM:609583
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Lower limb spasticity, Abnormality of the musculature of the lower limbs, Ataxia, Delayed periphe...	ORPHA:464282
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Resting tremor, Facial palsy, Parkinsonism, Rigidity, Ragged-red muscle ...	OMIM:157640
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers, Flexion contr...	OMIM:254090
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Hypospadias, Miscarriage, Decreased response to growth hormone stimulation t...	ORPHA:96179
Bifid Nose With Or Without Anorectal And Renal Anomalies	Precocious puberty, Renal agenesis, Unilateral renal agenesis, Rectovaginal fistula	OMIM:608980
Autosomal Recessive Spondylocostal Dysostosis	Hypospadias, Cryptorchidism, Meningocele, Abnormality of the ureter, Abnormal morphology of femal...	ORPHA:2311
Shashi-Pena Syndrome	Intrauterine growth retardation, Patent ductus arteriosus, Dilation of Virchow-Robin spaces, Unil...	OMIM:617190
Rhyns Syndrome	Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Nephronophthisis 16	Renal insufficiency, Patent ductus arteriosus, Stage 5 chronic kidney disease, Polycystic kidney ...	OMIM:615382
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc...	OMIM:226670
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ...	OMIM:620249
Abetal34V Amyloidosis	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324703
Cerebral Cavernous Malformations 2	Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia	OMIM:603284
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency, Retinal arteriolar constric...	OMIM:249660
Prune Belly Syndrome	Hydroureter, Cryptorchidism, Patent ductus arteriosus, Congenital posterior urethral valve, Hydro...	OMIM:100100
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Myopathy, Myofibrillar, 4	Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting	OMIM:609452
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Unilateral renal agenesis, Persistent cloaca	OMIM:615709
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi...	ORPHA:284339
Joubert Syndrome 16	Encephalocele, Renal cyst, Nephronophthisis	OMIM:614465
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Thyroid hypoplasia, Unilateral renal agenesis, Mild intrauterine growth retardation, Stillbirth, ...	OMIM:308050
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Unilateral renal agenesis, Cryptorchidism, Patent ductus arteriosus, Coronary artery fistula, Neo...	OMIM:620024
Focal Segmental Glomerulosclerosis 1	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Pleural effusion...	OMIM:603278
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Pulmonary hypoplasia, Neonatal death, Int...	OMIM:619003
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Renal hypoplasia/aplasia, Abnormality of the ureter, Polycystic ovaries, Gonadal dysgenesis, Umbi...	ORPHA:1770
Central Core Disease	Multiple joint contractures, Myopathy, Talipes equinovarus, Type 1 muscle fiber predominance, Pel...	ORPHA:597
Myelopathy, Htlv-1-Associated	Abnormal pyramidal sign, Spastic paraparesis	OMIM:159580
Renal Hypodysplasia/Aplasia 4	Bilateral renal agenesis, Pulmonary hypoplasia	OMIM:619887
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Ulnar deviation of the hand, Centrally nucleated skeletal muscle fib...	OMIM:616503
Congenital Myasthenic Syndromes With Glycosylation Defect	Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness...	ORPHA:353327
Acrorenal Syndrome	Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia	ORPHA:971
Cerebral Visual Impairment	Optic disc pallor, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Retinopathy of prematuri...	ORPHA:447788
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormality of the kidney, Unilateral renal agenesis	OMIM:118100
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Sex reversal, ...	ORPHA:139466
Familial Reactive Perforating Collagenosis	Chronic kidney disease	ORPHA:79147
Myotubular Myopathy With Abnormal Genital Development	Myopathy, Centrally nucleated skeletal muscle fibers	OMIM:300219
Renal Hypodysplasia/Aplasia 2	Bilateral renal agenesis, Pulmonary hypoplasia	OMIM:615721
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Pulmonary hypoplasia, Transposition of the great arteries, Neonatal death, Pers...	OMIM:314390
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Cryptorchidism, Spina bifida occulta, Hydronephrosis	OMIM:618060
Combined Oxidative Phosphorylation Defect Type 27	Ragged-red muscle fibers, Tetraparesis, Involuntary movements, Upper limb postural tremor	ORPHA:477774
Czeizel-Losonci Syndrome	Spina bifida, Myelomeningocele, Ureteral agenesis, Abnormality of the urinary system, Congenital ...	ORPHA:2437
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia,...	ORPHA:2973
Gillessen-Kaesbach-Nishimura Syndrome	Bicornuate uterus, Abnormal lung lobation, Pulmonary hypoplasia, Polycystic kidney dysplasia	OMIM:263210
Senior-Loken Syndrome 9	Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Hypogonadism, Nephronophthisis, Chr...	OMIM:616629
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,...	OMIM:614837
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Unilateral renal agenesis, Patent ductus arteriosus, Ovarian cyst, Stroke, U...	OMIM:618188
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Abnormal lung lobation, Renal cyst, Micropenis, Penoscrotal hypospa...	OMIM:270400
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Fatty replacement of skeletal muscle, Cranial nerve compression, Upper motor neuron dysfunction, ...	ORPHA:52430
Dextrocardia	Abnormal reproductive system morphology, Abnormal renal morphology, Abnormal lung lobation, Abnor...	ORPHA:1666
Abetalipoproteinemia	CNS demyelination, Ataxia, Peripheral demyelination	OMIM:200100
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Retinal arteriolar tortuosity, Renal cyst, Hematuria, Lacunar stroke, Dilata...	OMIM:611773
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stil...	OMIM:614922
Meacham Syndrome	Blind vagina, Death in childhood, Scimitar anomaly, Neonatal death, Congenital alveolar dysplasia...	OMIM:608978
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Abnorm...	ORPHA:84090
Recombinant Chromosome 8 Syndrome	Cryptorchidism, Patent ductus arteriosus, Double outlet right ventricle, Tetralogy of Fallot, Hyd...	OMIM:179613
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Small scrotum, Cryptorchidism, Intrauterine growth retardation, Hydronephrosis	ORPHA:2083
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Takenouchi-Kosaki Syndrome	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Patent ductus arteriosus, Hydronephrosis	OMIM:616737
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,...	OMIM:614841
Frasier Syndrome	Proteinuria, Male pseudohermaphroditism, Stage 5 chronic kidney disease, Focal segmental glomerul...	OMIM:136680
Poliomyelitis	Skeletal muscle atrophy, Hypoplasia of the musculature, Paralysis, Paraparesis, Abnormal skeletal...	ORPHA:2912
Mckusick-Kaufman Syndrome	Hydroureter, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, V...	OMIM:236700
Denys-Drash Syndrome	Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f...	OMIM:194080
Pallister-Hall-Like Syndrome	Occipital encephalocele, Death in infancy, Pulmonary hypoplasia, Micropenis, Anterior hypopituita...	OMIM:241800
Trigeminal Neuralgia	CNS demyelination, Cranial nerve compression, Allodynia, Peripheral demyelination	ORPHA:221091
Moderate Hemophilia A	Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den...	ORPHA:169805
6P22 Microdeletion Syndrome	Patent ductus arteriosus, Hydronephrosis	ORPHA:251046
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Pleuritis, Proteinuria, Renal amyloidosis	OMIM:134610
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper...	ORPHA:136
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
Cap Myopathy	Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In...	ORPHA:171881
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler...	OMIM:615573
Cutis Laxa, Autosomal Dominant 3	Tortuous cerebral arteries, Unilateral renal agenesis, Intrauterine growth retardation	OMIM:616603
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Bradykinesia, Spastic paraparesis	ORPHA:329284
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy	OMIM:607855
Renal Hypoplasia, Bilateral	Proteinuria, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta...	ORPHA:97362
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Urban-Rogers-Meyer Syndrome	Hypogonadism, Cryptorchidism, Hypoplasia of penis, Abnormality of the ureter	ORPHA:3409
Senior-Loken Syndrome	Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis	ORPHA:3156
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Umbilical hernia, Hypoplastic labia majora, Hydronephrosis	OMIM:619217
Joubert Syndrome 14	Encephalocele, Morning glory anomaly, Hydrocephalus, Meningocele, Optic atrophy, Intracranial hem...	OMIM:614424
46,Xx Gonadal Dysgenesis	Streak ovary, Increased circulating gonadotropin level, Gonadal dysgenesis, Pulmonary fibrosis, A...	ORPHA:243
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Bardet-Biedl Syndrome 12	Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Hypogonadism, Vaginal atresia, Hydronephrosis	OMIM:615989
Renal Hypodysplasia/Aplasia 1	Renal dysplasia, Proteinuria, Bilateral renal agenesis, Bicornuate uterus, Pulmonary hypoplasia, ...	OMIM:191830
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Micropenis, Pulmonary hypoplasia, Intrauterine growth retardation, Pleural effusion,...	OMIM:616897
Mosaic Trisomy 9	Hypoplasia of penis, Spina bifida, Cryptorchidism, Patent ductus arteriosus, Abnormal lung lobati...	ORPHA:99776
Optic Atrophy 11	Delayed CNS myelination, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, Dysmetria, ...	OMIM:617302
Factor Xiii, A Subunit, Deficiency Of	Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ...	OMIM:613225
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Peripheral pulmonary artery stenosis, Hydroureter, Septate vagina, Spi...	OMIM:300707
Creatine Phosphokinase, Elevated Serum	Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa...	OMIM:123320
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,...	ORPHA:206443
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Patent ductus arteriosus, Renal cyst, Pos...	ORPHA:464311
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Joubert Syndrome 18	Occipital encephalocele, Intrauterine growth retardation, Renal cyst, Horseshoe kidney	OMIM:614815
Diamond-Blackfan Anemia 11	Unilateral renal agenesis	OMIM:614900
Joubert Syndrome 35	Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:618161
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Pallister-Hall Syndrome	Renal dysplasia, Decreased testicular size, Thyroid dysgenesis, Hydroureter, Decreased response t...	OMIM:146510
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Meckel Syndrome, Type 10	Occipital encephalocele, Hypospadias, Anencephaly, Renal cyst, Micropenis	OMIM:614175
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Decreased number of peripheral myelinated nerve fibers	OMIM:607080
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Adrenal hyperplasia, Abnormal ovarian morphology, Vesicoureteral reflux, Micr...	ORPHA:95699
Bor Syndrome	Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesi...	ORPHA:107
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Respira...	ORPHA:656
Ritscher-Schinzel Syndrome 1	Hypospadias, Decreased response to growth hormone stimulation test, Intrauterine growth retardati...	OMIM:220210
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Congenital Factor Xiii Deficiency	Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h...	ORPHA:331
Vesicoureteral Reflux 3	Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Hydroureter, Grade III vesico...	OMIM:613674
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Myoectodermal Gonadal Dysgenesis Syndrome	Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Hypoplastic labia majo...	OMIM:618419
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Ataxia, Spastic tetraparesis, Babinski sign, Knee flexion contracture, D...	ORPHA:3208
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Penile Agenesis	Urethral atresia, male, Hydroureter, Cryptorchidism, Fetal pyelectasis, Bilateral renal hypoplasi...	ORPHA:49
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Joubert Syndrome 7	Encephalocele, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Atypical Hemolytic Uremic Syndrome	Hematuria, Acute kidney injury, Proteinuria	ORPHA:2134
Joubert Syndrome 37	Decreased testicular size, Cryptorchidism, Micropenis, Hydronephrosis	OMIM:619185
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Spina bifida occulta, Renal agenesis, Unilateral renal agenesis	OMIM:619227
Hypokalemic Periodic Paralysis	Paralysis, Abnormal muscle fiber morphology, Respiratory paralysis, Increased intramyocellular li...	ORPHA:681
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr...	ORPHA:169802
Suleiman-El-Hattab Syndrome	Cryptorchidism, Recurrent respiratory infections, Hydronephrosis	OMIM:618950
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Axial dystonia, Increased variability in muscle fiber diameter, Flexion contracture, Spastic para...	OMIM:619026
Genitopatellar Syndrome	Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Pulmonary hypoplasia, Hydronephrosis...	ORPHA:85201
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Anterior pituitary hypoplasia, Unilateral renal agenesis, Cryptorchidism, Patent duc...	ORPHA:464306
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:600995
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hypertension...	ORPHA:90065
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo...	OMIM:609560
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ...	ORPHA:119
Cystic Echinococcosis	Multiple pulmonary cysts, Pulmonary cyst, Abnormality of the testis size, Renal cyst, Membranous ...	ORPHA:400
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:225
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Dent Disease 2	Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo...	OMIM:300555
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Hydronephrosis	OMIM:598500
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Respira...	ORPHA:567548
Acrodysostosis 1 With Or Without Hormone Resistance	Unilateral renal agenesis, Cryptorchidism, Hypogonadism, Intrauterine growth retardation, Decreas...	OMIM:101800
Methylmalonic Acidemia With Homocystinuria Type Cblf	Intraventricular hemorrhage, Methylmalonic aciduria, Unilateral renal agenesis, Intrauterine grow...	ORPHA:79284
22Q11.2 Duplication Syndrome	Urethral stenosis, Transposition of the great arteries, Interrupted aortic arch, Displacement of ...	ORPHA:1727
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Skeletal muscle atrophy, Ataxia, Clonus, Demyelinating motor neuropathy, Ragged-red muscle fibers...	OMIM:616479
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c...	ORPHA:536516
Meckel Syndrome, Type 11	Occipital encephalocele, Polycystic kidney dysplasia	OMIM:615397
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Unilateral renal agenesis	ORPHA:1064
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter	OMIM:613752
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma...	OMIM:231680
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio...	OMIM:616818
Abeta Amyloidosis, Iowa Type	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324708
Joubert Syndrome 20	Renal cyst	OMIM:614970
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal aortic arch morphology, Bicor...	ORPHA:2059
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Bifid scrotum, Renal insufficiency, Hypoplasia of penis, Cryptorchidism, Renal hypoplasia, Umbili...	ORPHA:85321
Meckel Syndrome 13	Occipital encephalocele, Polycystic kidney dysplasia	OMIM:617562
7Q11.23 Microduplication Syndrome	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Patent ductus arteriosus, Aortic aneurysm...	ORPHA:96121
Hsd10 Disease	Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Myoclonus, Spastic paraparesis	ORPHA:391417
Nager Syndrome	Unilateral renal agenesis	ORPHA:245
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla...	OMIM:619902
Lecithin:Cholesterol Acyltransferase Deficiency	Renal insufficiency, Proteinuria, Foam cells	OMIM:245900
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Verheij Syndrome	Branchial cyst, Renal agenesis, Renal hypoplasia, Renal cyst, Intrauterine growth retardation, Tr...	OMIM:615583
Beta-Mercaptolactate Cysteine Disulfiduria	Umbilical hernia, Abnormality of the ureter	ORPHA:1035
Caudal Duplication Anomaly	Ureteral duplication, Uterus didelphys	OMIM:607864
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat...	ORPHA:31825
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast...	ORPHA:363654
Microphthalmia, Syndromic 12	Neonatal death, Cryptorchidism, Bicornuate uterus, Pulmonary hypoplasia	OMIM:615524
Thyrocerebrorenal Syndrome	Renal insufficiency, Euthyroid goiter, Nephritis	ORPHA:3327
Lethal Infantile Mitochondrial Myopathy	Renal insufficiency	ORPHA:254857
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Abnormal muscle fiber protein expression	ORPHA:330054
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormality of the ureter, Hypospadias	ORPHA:2522
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Patent ductus arteriosu...	ORPHA:2547
Trisomy 1Q	Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Patent ductus arteriosus, Congenital...	ORPHA:261344
Neurofaciodigitorenal Syndrome	Cryptorchidism, Unilateral renal agenesis, Intrauterine growth retardation	ORPHA:2673
Bladder Exstrophy	Hypoplasia of penis, Recurrent urinary tract infections, Epispadias, Abnormality of the ureter, A...	ORPHA:93930
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Lateral ventricle dilatation, Spina bifida occulta, Subdural hemorrhage	OMIM:618291
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Uret...	ORPHA:261265
Arthrogryposis Multiplex Congenita 6	Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni...	OMIM:619334
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Skeletal muscle atrophy, Abnormal peripheral nerve morphology by anatomical site, Abnormal periph...	ORPHA:168563
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti...	ORPHA:3002
Bardet-Biedl Syndrome 17	Polyuria, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Micropenis	OMIM:615994
Johanson-Blizzard Syndrome	Death in infancy, Hypoplasia of penis, Hypospadias, Abnormal vagina morphology, Intrauterine grow...	ORPHA:2315
Sneddon Syndrome	Intracranial hemorrhage, Hypertension, Arterial stenosis	ORPHA:820
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Renal hypoplasia, Renal cyst, Pulmonary hypoplasia, Polycystic kidney dysplasia	OMIM:614091
Peroxisome Biogenesis Disorder 3A (Zellweger)	Vascular dilatation, Polycystic kidney dysplasia	OMIM:614859
Wyburn-Mason Syndrome	Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo...	ORPHA:53719
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Hypospadias, Pulmonary artery atresia, Cryptorchidism, Double outle...	OMIM:301056
Kleefstra Syndrome	Recurrent respiratory infections, Hypoplasia of penis, Renal insufficiency, Hypospadias, Supernum...	ORPHA:261494
Thrombotic Thrombocytopenic Purpura	Renal insufficiency, Proteinuria, Hematuria, Stroke, Acute kidney injury	ORPHA:54057
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Flexion contracture, Skeletal muscle hypertrophy, Mus...	OMIM:613327
Diaphanospondylodysostosis	Myelomeningocele, Multiple renal cysts	ORPHA:66637
Snakebite Envenomation	Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Intracranial...	ORPHA:449285
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Unilateral renal agenesis, Arteria lusoria, Umbilical hernia,...	ORPHA:221139
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Segmental peripheral demyelination/remyelination, Chorea, Ragged-red muscle fibers, Optic...	ORPHA:255210
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Renal agenesis, Hypospadias, Ovotestis, Pulmonary artery stenosis, Sex...	OMIM:611812
Wolfram Syndrome 1	Neurogenic bladder, Hydroureter, Stroke-like episode, Testicular atrophy, Hydronephrosis	OMIM:222300
Abeta Amyloidosis, Italian Type	Stroke, Cerebral hemorrhage	ORPHA:324713
Mitochondrial Membrane Protein-Associated Neurodegeneration	Parkinsonism, Rigidity, Babinski sign, Optic atrophy, Hand tremor, Bradykinesia, Dystonia, Spasti...	ORPHA:289560
Holzgreve Syndrome	Renal agenesis, Renal hypoplasia	OMIM:236110
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Varicocele, Renovascular hypertension, Renal tubular epithelial nec...	ORPHA:49041
Fetal And Neonatal Alloimmune Thrombocytopenia	Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr...	ORPHA:853
Factor Vii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su...	OMIM:227500
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatic cysts, Abnormal lung lobation, Stillbirth, Pulmonary hypoplasia, Truncus arteriosus, Cyst...	OMIM:615415
Amyloidosis, Finnish Type	Nephrotic syndrome, Renal insufficiency	OMIM:105120
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Renal cyst	OMIM:614883
Alagille Syndrome	Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the ureter, Nephrotic syndrome, Intraute...	ORPHA:52
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr...	ORPHA:254864
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep...	ORPHA:3467
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Peripheral axonal neuropathy, Spinal muscular atrophy, Flexion contracture, Increased variability...	OMIM:616866
Hand-Foot-Genital Syndrome	Recurrent urinary tract infections, Hypospadias, Miscarriage, Abnormality of the urethra, Bicornu...	ORPHA:2438
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter	OMIM:614096
Cerebral Cavernous Malformations 3	Cerebral cavernous malformation, Cerebral hemorrhage	OMIM:603285
Coasy Protein-Associated Neurodegeneration	Oromandibular dystonia, Peripheral axonal neuropathy, Parkinsonism, Spastic paraparesis	ORPHA:397725
Trisomy 17P	Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Urethral stenosis, Polycystic kidn...	ORPHA:261290
Neurooculorenal Syndrome	Hypoplasia of the bladder, Ectopic posterior pituitary, Unilateral renal agenesis, Cryptorchidism...	OMIM:620305
Bilateral Perisylvian Polymicrogyria	Lower limb spasticity, Paraparesis, Flexion contracture, Oromotor apraxia, Spastic tetraplegia, D...	ORPHA:98889
Brain Small Vessel Disease 2	Intracranial hemorrhage	OMIM:614483
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Cryptorchidism, Pancreatic lymphangiectasis, Abnormal renal morphology, Pulmonary lymphangiectasi...	ORPHA:1655
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Pancreatic fibrosis, Hepatic cysts, Pancreatic cysts, Patent ductus arterios...	OMIM:208540
Acrorenal-Mandibular Syndrome	Absent nipple, Renal agenesis, Abnormality of the ureter, Uterus didelphys, Aplasia of the bladde...	OMIM:200980
Bardet-Biedl Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia...	ORPHA:110
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Farber Disease	Skeletal muscle atrophy, Paraparesis, Short toe, Flexion contracture, Myoclonus, Short finger, Sp...	ORPHA:333
Toluene Embryopathy	Cryptorchidism, Hydronephrosis, Abnormal localization of kidney	ORPHA:1920
Alexander Disease Type Ii	Ataxia, Rigidity, Palatal tremor, Babinski sign, Spasticity, Spastic paraparesis, Limb muscle wea...	ORPHA:363722
Acquired Ichthyosis	Renal insufficiency	ORPHA:454
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Hematuria	ORPHA:375
Hepatic Veno-Occlusive Disease	Renal insufficiency	ORPHA:890
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Paraparesis, Femoral bowing, Tetraparesis, Osteosclerosis ...	OMIM:602080
Hemophilia A	Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he...	ORPHA:98878
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology	OMIM:609886
Odontochondrodysplasia 1	Death in infancy, Recurrent respiratory infections, Pulmonary hypoplasia, Polycystic kidney dyspl...	OMIM:184260
Femoral-Facial Syndrome	Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kidney, Polycystic...	ORPHA:1988
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Aminoaciduria, Lacticaciduria, Death in infancy	OMIM:619386
Reni Syndrome	Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Cryptorchidism, Stage 5 chr...	OMIM:617575
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Chromosome 2P16.1-P15 Deletion Syndrome	Cryptorchidism, Recurrent upper respiratory tract infections, Hydronephrosis, Hypogonadism, Intra...	OMIM:612513
Multiple Sulfatase Deficiency	Broad hallux, Ataxia, Broad thumb, CNS demyelination, Spasticity, Peripheral demyelination	OMIM:272200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Patent ductus ...	OMIM:614080
Netherton Syndrome	Recurrent respiratory infections, Ectopic kidney, Aminoaciduria, Emphysema, Hydronephrosis	ORPHA:634
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Pancreatic adenocarcinoma, Nephrolithiasis, Papillary renal cell carcinoma, ...	OMIM:145001
Combined Oxidative Phosphorylation Deficiency 24	Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, CNS hypomyelination, Myopathy, ...	OMIM:616239
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Muscle fiber atrophy, Delayed CNS myelination, Flexion contracture, Clonus	OMIM:620240
Molybdenum Cofactor Deficiency, Complementation Group B	Spastic tetraplegia, Opisthotonus, Axonal loss, Hypertonia, Gliosis, Myoclonic spasms, Peripheral...	OMIM:252160
Glutaric Acidemia I	Rigidity, Delayed myelination, Spastic diplegia, Opisthotonus, Choreoathetosis, Symmetrical progr...	OMIM:231670
Pallister-Hall Syndrome	Small scrotum, Ectopic kidney, Abnormal lung lobation, Gonadotropin deficiency, Micropenis, Aplas...	ORPHA:672
Polysyndactyly With Cardiac Malformation	Stillbirth, Hepatic cysts, Renal cyst	OMIM:263630
Igg4-Related Aortitis	Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila...	ORPHA:449400
Developmental Delay, Language Impairment, And Ocular Abnormalities	Myelomeningocele, Hydronephrosis	OMIM:620141
Afibrinogenemia, Congenital	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ...	OMIM:202400
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Bifid uterus, Epispadias, Vesicovagina...	OMIM:258040
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ...	ORPHA:432
Molybdenum Cofactor Deficiency, Complementation Group A	Spastic tetraparesis, Spastic tetraplegia, Opisthotonus, Axonal loss, Gliosis, Myoclonic spasms, ...	OMIM:252150
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Total anomalous pulmonary venou...	ORPHA:487796
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Renal insufficiency, Renal agenesis, Ectopic kidney, Pulmonary artery stenosis, Horseshoe kidney,...	ORPHA:140952
Digeorge Syndrome	Renal insufficiency, Parathyroid agenesis, Cholelithiasis, Unilateral renal agenesis, Atelectasis...	OMIM:188400
Multicentric Carpotarsal Osteolysis Syndrome	Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease	OMIM:166300
Exstrophy-Epispadias Complex	Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera...	ORPHA:322
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Cockayne Syndrome Type 3	Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Subdural hemorrh...	ORPHA:90324
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Tapered finger, Increased variability in muscle fiber diameter, Myoclonus, Type 1 muscle fiber pr...	OMIM:612949
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury	ORPHA:33111
Lumbar Syndrome	Bifid scrotum, Ambiguous genitalia, Renal agenesis, Hypospadias, Spina bifida, Bifid uterus, Cryp...	ORPHA:83628
Sjogren-Larsson Syndrome	CNS demyelination, Spasticity, Flexion contracture, Spastic paraparesis	OMIM:270200
Leopard Syndrome 1	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Hypoplasia of the ovary, Aplasia of the o...	OMIM:151100
Igg4-Related Kidney Disease	Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Sterile pyuria, Tubulointer...	ORPHA:449395
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Supernumerary n...	OMIM:213980
Micro Syndrome	Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Abnormal localization of kidney, C...	ORPHA:2510
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Pneumothorax, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria	ORPHA:445038
3C Syndrome	Death in infancy, Hypoplasia of penis, Recurrent respiratory infections, Hypospadias, Tetralogy o...	ORPHA:7
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Stillbirth...	OMIM:616300
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Microphallus, Intrauterine growth retarda...	ORPHA:468631
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Ellis Van Creveld Syndrome	Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Crypto...	ORPHA:289
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Death in infancy, Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymphangiectasis, Pulmonar...	OMIM:235255
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Progressi...	ORPHA:35689
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Abeta Amyloidosis, Dutch Type	Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy	ORPHA:100006
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Wolf-Hirschhorn Syndrome	Hypospadias, Precocious puberty, Cryptorchidism, Aplasia of the uterus, Intrauterine growth retar...	OMIM:194190
Bresek Syndrome	Decreased testicular size, Hypoplasia of the bladder, Cryptorchidism, Renal hypoplasia, Neonatal ...	ORPHA:85284
9Q21.13 Microdeletion Syndrome	Cryptorchidism, Hydronephrosis	ORPHA:531151
Say Syndrome	Proximal renal tubular acidosis, Cystic renal dysplasia	OMIM:181180
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hydroureter, Supernumerary nipple, Unilateral renal agenesis, Cryptorchidism, Bilateral renal age...	OMIM:619194
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Pulmonary fibrosis, Glycosuria, Emphy...	OMIM:618913
Typical Nemaline Myopathy	Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f...	ORPHA:171436
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Recurrent respiratory infections, Renal insufficiency, Hyperuricosuria, Uric acid n...	ORPHA:411543
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ...	OMIM:276820
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Paten...	ORPHA:2473
Endove Syndrome, Limb-Brain Type	Recurrent urinary tract infections, Umbilical hernia, Neurogenic bladder, Hydronephrosis	OMIM:619218
Arachnoid Cyst	Facial palsy, Paraparesis, Cranial nerve compression, Slurred speech, Hemiparesis, Tetraparesis, ...	ORPHA:2356
Wild Type Attr Amyloidosis	Renal insufficiency, Proteinuria, Abnormal pulmonary interstitial morphology, Nephrotic syndrome,...	ORPHA:330001
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormal vagina morphology, Renal agenesis, Abnormality of the ovary	ORPHA:247768
Combined Oxidative Phosphorylation Deficiency 49	Ragged-red muscle fibers	OMIM:619024
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Papillary cystad...	OMIM:193300
Tonne-Kalscheuer Syndrome	Hypospadias, Cryptorchidism, Pulmonary hypoplasia, Micropenis, Decreased testicular size	OMIM:300978
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Meckel Syndrome, Type 2	Encephalocele, Meningocele, Anencephaly, Renal cyst, Bile duct proliferation, Intrauterine growth...	OMIM:603194
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Dilatation of the ventricular cavity, Bronchiectasis, Pyelonephritis, ...	ORPHA:90348
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cryptorchidism, Patent ductus arteriosus, Hydronephrosis, Intrauterine growth retardation	OMIM:620327
Hereditary Orotic Aciduria	Recurrent respiratory infections, Orotic acid crystalluria, Patent ductus arteriosus, Abnormality...	ORPHA:30
Bethlem Myopathy	Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ...	ORPHA:610
Tetrasomy 15Q26	Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, Intrauterine growth retardat...	OMIM:614846
Hereditary Amyloidosis With Primary Renal Involvement	Renal insufficiency, Primary testicular failure, Proteinuria, Renal interstitial amyloid deposits...	ORPHA:85450
Zellweger Syndrome	Death in infancy, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Hydronephrosis, Clit...	ORPHA:912
Megabladder, Congenital	Multiple glomerular cysts, Patent ductus arteriosus, Stage 5 chronic kidney disease, Fetal megacy...	OMIM:618719
Donnai-Barrow Syndrome	Umbilical hernia, Bicornuate uterus, Proteinuria, Abnormality of the uterus	ORPHA:2143
Hand-Foot-Genital Syndrome	Bifid scrotum, Renal insufficiency, Hypospadias, Uterus didelphys, Micropenis, Pyelonephritis, Ch...	OMIM:140000
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pleural lymphangiectasia, Pericardial lymphangiectasia, Ectopic kidney, Thyroid lymphangiectasia,...	OMIM:235510
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers, Hemiparesis	OMIM:540000
Webb-Dattani Syndrome	Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp...	OMIM:615926
Malaria	Acute kidney injury	ORPHA:673
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Vesicoureteral reflux, Hydroureter, Nephrolithiasis, Vascular dilatation	OMIM:617219
Desmoid Tumor	Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:873
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi...	ORPHA:465
Lcat Deficiency	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Atherosclerosis, Acute kidney i...	ORPHA:650
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Gonadal dy...	ORPHA:2075
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Factor X Deficiency	Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,...	OMIM:227600
Babesiosis	Recurrent pharyngitis, Renal insufficiency	ORPHA:108
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Abnormal lung lobation, Aplasia/Hypoplasia of the l...	ORPHA:3301
Hemophilia B	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join...	ORPHA:98879
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Limb-Mammary Syndrome	Absent nipple, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nipples, Aplasia of the u...	ORPHA:69085
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Fetal pyelectasis, Pulmonary hypoplasia	OMIM:616531
Carpenter Syndrome 1	Hydroureter, External genital hypoplasia, Precocious puberty, Cryptorchidism, Patent ductus arter...	OMIM:201000
Complement Factor I Deficiency	Recurrent urinary tract infections, Renal insufficiency, Glomerulonephritis, Vasculitis, Pyelonep...	OMIM:610984
Fraser Syndrome 3	Hypoplasia of the bladder, Hypoplasia of penis, Small scrotum, Abnormal lung lobation, Ureteral a...	OMIM:617667
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Cerebral berry aneurysm, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Aa Amyloidosis	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid...	ORPHA:85445
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Cryptorchidism, Patent ductus arteriosus, Albuminuria, Aminoaciduria, Pulmonary hypo...	OMIM:214100
Pallister-Killian Syndrome	Small scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Renal...	OMIM:601803
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Respiratory tract infection, Chronic kidney disease, Stage 5 c...	ORPHA:567546
Charcot-Marie-Tooth Disease Type 4C	Decreased number of peripheral myelinated nerve fibers, Foot dorsiflexor weakness, Frequent falls...	ORPHA:99949
Mitochondrial Neurogastrointestinal Encephalomyopathy	Peripheral axonal neuropathy, Decreased muscle mass, Foot dorsiflexor weakness, Decreased number ...	ORPHA:298
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Cryptorchidism, Abnormal vena cava morphology, Renal cyst, Horseshoe kidney, Intrauterine growth ...	ORPHA:166035
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Renal insufficiency, Partial anomalous pulmonary venous return, Renal cyst, Rig...	OMIM:617478
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,...	ORPHA:79
Neuromuscular Oculoauditory Syndrome	Knee flexion contracture, Wrist flexion contracture, Calf muscle hypertrophy, Muscle fiber necros...	OMIM:618733
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit...	OMIM:137940
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Hypogonadism, Recurrent respiratory infections, Small scrotum, Abnormality of the ureter	ORPHA:3253
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morphology, Preaxia...	OMIM:175700
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Death in infancy, Renal insufficiency, Recurrent respiratory infections, Proteinuria, Pancreatic ...	OMIM:208500
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Pelvic kidney, Hydronephrosis, Peripheral pulmonary artery stenosis	OMIM:613001
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis, Intrauterine growth retardation	ORPHA:73246
Sneddon Syndrome	Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage	OMIM:182410
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In...	ORPHA:99147
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather...	ORPHA:280679
Trisomy 20P	Hypospadias, Abnormality of the kidney, Spina bifida, Cryptorchidism, Abnormality of the ureter, ...	ORPHA:261318
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren...	OMIM:256300
Meckel Syndrome, Type 4	Encephalocele, Meningocele, Anencephaly, Renal cyst, Bile duct proliferation, Intrauterine growth...	OMIM:611134
Familial Isolated Hyperparathyroidism	Renal insufficiency, Hyperphosphaturia, Primary hyperparathyroidism, Hypercalciuria, Nephrocalcin...	ORPHA:99879
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Ambiguous genitalia, Hypogonadotropic hypogonadism, Cryptorchidism, Patent d...	OMIM:617159
Mosaic Trisomy 1	Renal cortical cysts, Renal cyst, Coarctation of aorta, Pulmonary hypoplasia, Pulmonary artery at...	ORPHA:1692
Acys Amyloidosis	Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy	ORPHA:100008
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Renal agenesis, Hypospadias, Cryp...	OMIM:229850
X-Linked Intellectual Disability Due To Gria3 Mutations	Cryptorchidism, Micropenis, Hydronephrosis	ORPHA:364028
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Basel-Vanagaite-Smirin-Yosef Syndrome	Recurrent pneumonia, Hypospadias, Hydronephrosis, Clitoral hypertrophy	OMIM:616449
Aapoaiv Amyloidosis	Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Abnormal lun...	ORPHA:439232
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Flexion contracture, Arthrogryposis multiplex congenita, Clinodactyly, Increased endomysial conne...	ORPHA:178148
Xanthinuria, Type Ii	Nephrolithiasis, Renal insufficiency, Increased urinary hypoxanthine level, Xanthinuria	OMIM:603592
Liddle Syndrome	Nephropathy, Renal insufficiency	ORPHA:526
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular...	OMIM:177850
Meckel Syndrome, Type 1	Hypoplasia of the bladder, Occipital encephalocele, Renal agenesis, External genital hypoplasia, ...	OMIM:249000
Prune1-Related Neurological Syndrome	Clonus, Spastic tetraparesis, Delayed myelination, Optic atrophy, Bilateral talipes equinovarus, ...	ORPHA:544469
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Spastic ataxia, Cerebral palsy, Generalized dystonia, Spastic tetraparesis, Paraparesis, Dystonia	OMIM:620358
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular filtrati...	OMIM:162000
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Distal Limb Deficiencies-Micrognathia Syndrome	Cryptorchidism, Renal insufficiency, Proteinuria, Renal hypoplasia	ORPHA:1307
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k...	ORPHA:1652
Cloacal Exstrophy	Hypoplasia of penis, Hydroureter, Spina bifida, Ectopic kidney, Renal hypoplasia/aplasia, Myelome...	ORPHA:93929
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti...	OMIM:620278
Autosomal Recessive Spastic Paraplegia Type 20	Speech apraxia, Skeletal muscle atrophy, Abnormal thumb morphology, Abnormal hand morphology, Bab...	ORPHA:101000
Familial Adenomatous Polyposis 4	Ovarian cyst, Uterine leiomyoma, Renal cyst	OMIM:617100
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Tracheobronchial leio...	OMIM:308940
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Tremor, Increased variability in muscle fiber diameter, Dysmetria, Increased m...	ORPHA:502423
East Syndrome	Peripheral axonal neuropathy, Ataxia, Peripheral hypomyelination, Lower limb muscle weakness, Act...	ORPHA:199343
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation...	ORPHA:268261
Xanthinuria, Type I	Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis	OMIM:278300
Meckel Syndrome, Type 5	Occipital encephalocele, Bile duct proliferation, Anencephaly, Renal cyst	OMIM:611561
Harrod Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hypospadias, Intrauterine growth retardation	ORPHA:2115
Lymphedema-Hypoparathyroidism Syndrome	Hypoparathyroidism, Nephropathy, Renal insufficiency, Pulmonary lymphangiectasia	OMIM:247410
Congenital Disorder Of Glycosylation, Type Ib	Proximal tubulopathy, Lymphangiectasis, Renal cyst, Death in childhood	OMIM:602579
Stankiewicz-Isidor Syndrome	Ureteral duplication, Hypospadias, Truncus arteriosus, Cryptorchidism, Patent ductus arteriosus, ...	OMIM:617516
Opitz Gbbb Syndrome	Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Coarctati...	ORPHA:2745
Vitamin B12-Responsive Methylmalonic Acidemia	Renal insufficiency	ORPHA:28
Erdheim-Chester Disease	Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria, Abnormal pulmonary interstitial morp...	ORPHA:35687
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Uric acid nephrolithiasi...	ORPHA:411536
2P15P16.1 Microdeletion Syndrome	Recurrent respiratory infections, Multicystic kidney dysplasia, Supernumerary nipple, Hydronephro...	ORPHA:261349
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri...	OMIM:615862
Schimke Immunoosseous Dysplasia	Renal insufficiency, Proteinuria, Transient ischemic attack, Bilateral cryptorchidism, Stage 5 ch...	OMIM:242900
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Myopathy, Gliosis, Limb dystonia, Increased variability in muscle fiber diameter, Basal ganglia g...	OMIM:604377
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Vesicoureteral reflux, Hydronephrosis	OMIM:618265
Brain Malformations With Or Without Urinary Tract Defects	Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis	OMIM:613735
Myopathy, Mitochondrial, And Ataxia	Ataxia, Tremor, Dysmetria, Limb ataxia, Distal amyotrophy, Dysdiadochokinesis, Truncal ataxia, In...	OMIM:617675
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Abnormal lung lobation, Neonatal death, Hypospadias, Patent ductus arteriosus, Pulmonary artery s...	OMIM:265380
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Death in infancy, Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal age...	OMIM:308205
Alg1-Cdg	Nephrotic syndrome, Renal insufficiency, Abnormality of the kidney	ORPHA:79327
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Pulmonary hypoplasia, Intrauterine growt...	OMIM:608022
Spinal Arteriovenous Metameric Syndrome	Paraparesis	ORPHA:53721
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S...	OMIM:104200
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Patent ductus arteriosus, Lateral ventricle dilatation, Bradycardia, Petechiae	OMIM:617397
Non-Functioning Paraganglioma	Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive r...	ORPHA:94080
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Mitochondrial Dna Depletion Syndrome 11	Generalized amyotrophy, Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy	OMIM:615084
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, General...	ORPHA:324604
Duplication Of Urethra	Urethral stricture, Bifid scrotum, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia...	ORPHA:237
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Clonus, Poor coordination, Abnormal pyramidal sign, Truncal ataxia, Dysmetria, Spastic paraplegia...	OMIM:238970
Premature Ovarian Failure 7	Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele...	OMIM:612964
Muscular Dystrophy, Congenital, Megaconial Type	Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy	OMIM:602541
Vascular Hyalinosis	Hematochezia, Chorioretinal scar, Vascular dilatation, Subarachnoid hemorrhage	OMIM:277175
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Autoimmune Lymphoproliferative Syndrome, Type Iii	Recurrent urinary tract infections, Recurrent upper respiratory tract infections, Stage 5 chronic...	OMIM:615559
Familial Afibrinogenemia	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding	ORPHA:98880
Zttk Syndrome	Absent gallbladder, Unilateral lung agenesis, Polyuria, Unilateral renal agenesis, Patent ductus ...	OMIM:617140
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Hydronephrosis	ORPHA:568
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu...	ORPHA:98863
Lesch-Nyhan Syndrome	Hematuria, Renal insufficiency	ORPHA:510
Short-Rib Thoracic Dysplasia 12	Atelectasis, Patent ductus arteriosus, Anencephaly, Renal hypoplasia, Neonatal death, Pulmonary h...	OMIM:269860
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cryptorchidism, Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplasia, Death in ch...	OMIM:214110
Periventricular Nodular Heterotopia 1	Patent ductus arteriosus, Stroke, Cerebral hemorrhage	OMIM:300049
Nephrotic Syndrome, Type 22	Podocyte foot process effacement, Stage 5 chronic kidney disease, Thickened glomerular basement m...	OMIM:619155
Congenital Myopathy 17	Respiratory tract infection, Renal hypoplasia, Pulmonary hypoplasia, Ureteropelvic junction obstr...	OMIM:618975
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu...	ORPHA:98853
8Q24.3 Microdeletion Syndrome	Branchial cyst, Ectopic posterior pituitary, Abnormality of the kidney, Unilateral renal agenesis...	ORPHA:508488
Noonan Syndrome 4	Ureteral duplication, Hydronephrosis, Cryptorchidism	OMIM:610733
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria	ORPHA:2668
Rhyns Syndrome	Renal insufficiency, Decreased response to growth hormone stimulation test, Chronic kidney diseas...	OMIM:602152
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Cryptorchidism, Intrauterine growth ...	OMIM:611209
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu...	ORPHA:98855
Smith-Magenis Syndrome	Precocious puberty, Abnormality of the ureter, Abnormal localization of kidney, Renal hypoplasia/...	ORPHA:819
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans...	ORPHA:774
Acrofacial Dysostosis 1, Nager Type	Patent ductus arteriosus, Bicornuate uterus, Tetralogy of Fallot, Unilateral renal agenesis	OMIM:154400
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Hydronephrosis, Renal d...	ORPHA:96169
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Patent ductus arteriosus, Unilateral renal agenesis, Cryptorchidism	ORPHA:261337
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi...	ORPHA:105
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Vascular dilatation, Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus...	OMIM:613177
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Acute Transverse Myelitis	Paraparesis, Babinski sign, Paraplegia, Upper limb muscle weakness, Abnormality of extrapyramidal...	ORPHA:139417
Pelvis-Shoulder Dysplasia	Hydranencephaly, Ambiguous genitalia, Hydronephrosis, Spina bifida	ORPHA:2839
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Renal insufficiency, Stage 5 chronic kidney disease, Multiple...	OMIM:613095
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Proteinuria, Vaginal neoplasm,...	ORPHA:1018
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Cryptorchidism, Patent ductus arteriosus, Hydronephrosis	ORPHA:457193
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne...	ORPHA:228302
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Tubulointerstitial nephrit...	OMIM:617595
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Death in infancy, Recurrent urinary tract infections, Hypoplasia of penis, Ambiguous genitalia, A...	ORPHA:847
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Patent ductus arteriosus, Hydronephrosis	OMIM:300048
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S...	ORPHA:57
Joubert Syndrome 2	Encephalocele, Renal insufficiency, Renal cyst, Nephronophthisis, Hypoplastic male external genit...	OMIM:608091
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Hand muscle weakness, Weakness of facial musculature, Tr...	ORPHA:99956
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency	OMIM:261670
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Partial vaginal septum, Renal agenesis, Abnormal uterine cervix morphology, Uterus didelphys, Hyd...	ORPHA:3411
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Meningocele, Renal cyst	ORPHA:2031
Melnick-Needles Syndrome	Vesicoureteral reflux, Recurrent respiratory infections, Hydronephrosis	ORPHA:2484
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Cryptorchidism, Ascending tubular aorta aneurysm, Branchial anomaly, Vesicoureteral reflux, Intra...	ORPHA:453499
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Abnormal morphology of female internal genitalia, Pulmonary hypoplasia	ORPHA:2141
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Death in infancy, Multicystic kidney dysplasia, Hydroureter, Cryptorchidism, Megacystis, Umbilica...	ORPHA:2241
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Pleural effusion, Small vessel vascu...	ORPHA:36412
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Recurrent respiratory infections, Atelectasis, Emphysema,...	ORPHA:538
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Nephrocalci...	OMIM:615398
Parkes Weber Syndrome	Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac...	ORPHA:90307
Aredyld Syndrome	Intrauterine growth retardation, Abnormality of the ureter	ORPHA:1133
Fanconi Anemia, Complementation Group B	Death in infancy, Hypergonadotropic hypogonadism, Renal agenesis, Patent ductus arteriosus, Abnor...	OMIM:300514
Cockayne Syndrome	Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen...	ORPHA:191
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue	ORPHA:663
Otopalatodigital Syndrome Type 2	Encephalocele, Hypospadias, Ureteral obstruction, Myelomeningocele, Pulmonary hypoplasia, Hydrone...	ORPHA:90652
Glycogen Storage Disease Xi	Myoglobinuria, Renal insufficiency	OMIM:612933
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Decreased muscle mass, Metatarsus adductus, Short toe, 4...	ORPHA:3041
Musculocontractural Ehlers-Danlos Syndrome	Cryptorchidism, Functional abnormality of the bladder, Pneumothorax, Nephrolithiasis, Horseshoe k...	ORPHA:2953
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Death in infancy, Long-chain dicarbox...	OMIM:608836
Marden-Walker Syndrome	Hypospadias, Cryptorchidism, Renal hypoplasia, Pulmonary hypoplasia, Intrauterine growth retardat...	OMIM:248700
Distal 16P11.2 Microdeletion Syndrome	Proteinuria, Abnormality of the kidney, Renal agenesis, Chronic kidney disease, Vesicoureteral re...	ORPHA:261222
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R...	OMIM:300554
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Tubular luminal dilatation, Renal corticomedullary cysts, Hyperechogenic kid...	OMIM:219730
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Uterine leiomyoma, Renal cyst	ORPHA:480536
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei...	ORPHA:90796
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis	OMIM:619362
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Abnormal aortic morphology	ORPHA:3222
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Deposits immunoreactive...	ORPHA:1020
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Cat Eye Syndrome	Renal agenesis, Patent ductus arteriosus, Horseshoe kidney, Total anomalous pulmonary venous retu...	OMIM:115470
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Recurrent respiratory infections, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Pulmonar...	OMIM:618316
Deafness-Lymphedema-Leukemia Syndrome	Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility, Abnormal optic nerve m...	ORPHA:3226
Developmental Delay With Or Without Dysmorphic Facies And Autism	Small scrotum, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, ...	OMIM:618454
Axial Osteomalacia	Renal cyst	OMIM:109130
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Tremor, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Clonus	OMIM:619424
Simple Cryoglobulinemia	Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki...	ORPHA:91139
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Tarp Syndrome	Cryptorchidism, Horseshoe kidney, Pulmonary hypoplasia, Intrauterine growth retardation, Tetralog...	ORPHA:2886
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Cryptorchidism, Renal c...	OMIM:257300
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame...	OMIM:619461
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, Va...	OMIM:616307
Familial Multiple Nevi Flammei	Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar...	ORPHA:624
Lethal Congenital Contracture Syndrome 2	Hydronephrosis	OMIM:607598
Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Recurrent intrapulmonary hem...	ORPHA:900
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hemiparesis, Paraparesis, Paraplegia, Leukodystrophy	ORPHA:79124
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Inc...	OMIM:255125
Tarp Syndrome	Subdural hemorrhage, Horseshoe kidney, Neonatal death, Intrauterine growth retardation, Tetralogy...	OMIM:311900
Severe Acute Respiratory Syndrome	Acute infectious pneumonia, Acute kidney injury	ORPHA:140896
Systemic Capillary Leak Syndrome	Renal insufficiency, Abnormal renal tubule morphology, Oliguria, Pleural effusion, Pulmonary edema	ORPHA:188
Microcephaly 26, Primary, Autosomal Dominant	Recurrent pneumonia, Hydronephrosis	OMIM:619179
Proboscis Lateralis	External genital hypoplasia, Unilateral renal agenesis, Patent ductus arteriosus, Ureteral agenes...	ORPHA:141099
Mesomelia-Synostoses Syndrome	Umbilical hernia, Hydronephrosis	ORPHA:2496
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal tubular dysfunction, Renal insufficiency	ORPHA:289916
Kleefstra Syndrome Due To 9Q34 Microdeletion	Renal insufficiency, Hypoplasia of penis, Cryptorchidism, Tetralogy of Fallot, Conotruncal defect...	ORPHA:96147
Variant Abeta2M Amyloidosis	Abnormal vascular morphology, Abnormal salivary gland morphology, Chronic kidney disease, Renal a...	ORPHA:314652
Hyperprolinemia Type 2	Hydroxyprolinuria, Renal insufficiency, Prolinuria, Increased urine alpha-ketoglutarate concentra...	ORPHA:79101
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Hypoplasia of penis, Uterus didelphys	ORPHA:2491
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Renal cyst	OMIM:614862
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Acute kidney i...	ORPHA:79233
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe...	ORPHA:94088
Tuberous Sclerosis 1	Precocious puberty, Renal cyst, Renal cell carcinoma, Adenoma sebaceum, Renal angiomyolipoma, Pul...	OMIM:191100
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Renal agenesis, Ectopic kidney, Horseshoe kidney, Vascular dilatation	OMIM:602200
Acquired Purpura Fulminans	Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage	ORPHA:49566
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Precocious puberty, Patent ductus arteriosus, Abnormal lung lobation, Hyperca...	ORPHA:369837
Branchio-Oculo-Facial Syndrome	Intrauterine growth retardation, Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, Breast aplasia	OMIM:181270
X-Linked Dominant Chondrodysplasia Punctata	Abnormal lung morphology, Hydronephrosis	ORPHA:35173
Thakker-Donnai Syndrome	Rectovaginal fistula, Transposition of the great arteries, Intrauterine growth retardation, Tetra...	ORPHA:1780
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Pneumonia, Ectopic kidney, Cryptorchidism, Abnormal renal morphology, V...	OMIM:122470
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d...	OMIM:617730
8P Inverted Duplication/Deletion Syndrome	Precocious puberty, Cryptorchidism, Abnormality of the urinary system, Aplasia/Hypoplasia of the ...	ORPHA:96092
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Vocal Cord And Pharyngeal Distal Myopathy	Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ...	ORPHA:600
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas...	OMIM:202010
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Renal agenesis, Hypospadias, Anencephaly, Pulmonary hypoplasia...	ORPHA:1335
Leukoencephalopathy With Calcifications And Cysts	Stroke, Cerebral hemorrhage	ORPHA:542310
Zaki Syndrome	Patent ductus arteriosus, Renal agenesis, Hydronephrosis	OMIM:619648
Aspergillosis	Intracranial hemorrhage, Stroke, Vitritis, Eosinophilia	ORPHA:1163
Mosaic Trisomy 16	Hypospadias, Large placenta, Abnormal lung morphology, Patent ductus arteriosus, Horseshoe kidney...	ORPHA:1708
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Ureteral stenosis, Pneumothorax, Abnormal pulmonary artery morp...	ORPHA:2257
Kury-Isidor Syndrome	Hydronephrosis	OMIM:619762
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:254900
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo...	ORPHA:206569
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Primary hyp...	ORPHA:99880
Alstrom Syndrome	Renal insufficiency, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimula...	OMIM:203800
Aicardi-Goutieres Syndrome 9	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Stage 5 chronic kidney dise...	OMIM:619487
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm...	ORPHA:91387
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Stroke, Renal sodium ...	ORPHA:320
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Renal dysplasia, Duplicated collecting system, Recurrent respiratory infections, Hydroureter, Ren...	OMIM:129900
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Chorea, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Truncal ataxia, Muscle fibe...	ORPHA:369840
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Renal insufficiency, Stroke	ORPHA:79312
Hydrolethalus Syndrome 1	Hypospadias, Bifid uterus, Anencephaly, Abnormal lung lobation, Stillbirth, Adrenal gland dysgene...	OMIM:236680
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Renal insufficiency, Recurrent respiratory infections, Hypospadias, Supe...	ORPHA:397715
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor...	ORPHA:464321
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectop...	OMIM:617466
Myh9-Related Disease	Nephropathy, Renal insufficiency, Proteinuria, Nephritis	ORPHA:182050
Oculodentodigital Dysplasia	Ataxia, Paraparesis, 4-5 finger syndactyly, Spasticity, Joint contracture of the 5th finger, Tetr...	OMIM:164200
Lamellar Ichthyosis	Recurrent respiratory infections, Renal insufficiency	ORPHA:313
Parathyroid Carcinoma	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Primary hyp...	ORPHA:143
Muckle-Wells Syndrome	Renal insufficiency, Renal amyloidosis	OMIM:191900
Peho Syndrome	Optic atrophy, Myoclonus, Peripheral dysmyelination, Tapered finger	OMIM:260565
Transcobalamin Deficiency	Acute kidney injury, Methylmalonic aciduria	ORPHA:859
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Neuropathy, Hereditary Sensory, Type Ie	Decreased number of peripheral myelinated nerve fibers, Ataxia	OMIM:614116
Gabriele-De Vries Syndrome	Aortopulmonary collateral arteries, Cryptorchidism, Intrauterine growth retardation, Ureteropelvi...	OMIM:617557
1Q21.1 Microdeletion Syndrome	Cryptorchidism, Patent ductus arteriosus, Interrupted aortic arch, Vesicoureteral reflux, Intraut...	ORPHA:250989
Duane-Radial Ray Syndrome	Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro...	OMIM:607323
Dengue Fever	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Hypotension, Brui...	ORPHA:99828
Nephronophthisis 19	Stage 5 chronic kidney disease, Bile duct proliferation, Renal interstitial fibrosis, Nephronopht...	OMIM:616217
Thoracoabdominal Syndrome	Renal agenesis, Hypospadias, Patent ductus arteriosus, Anencephaly, Pulmonary hypoplasia, Transpo...	OMIM:313850
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:300510
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Respiratory tract infection, Pituitary adenoma, C...	ORPHA:805
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Renal agenesis, Hypospadias, Cryptorchidism, Shawl scrotum, Umbilical hernia, Micropenis, Hydrone...	OMIM:301040
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-like episode, Right aortic arch, Hypertension...	OMIM:300845
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:2364
Mirage Syndrome	Intracranial hemorrhage, Hydrocephalus, Patent ductus arteriosus, Petechiae	OMIM:617053
Congenital Disorder Of Glycosylation, Type Ia	Death in infancy, Proteinuria, Hypergonadotropic hypogonadism, Renal cyst, Stroke-like episode, N...	OMIM:212065
Noonan Syndrome 9	Cryptorchidism, Hydroureter, Coarctation of aorta	OMIM:616559
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter	OMIM:619173
Intellectual Developmental Disorder, Autosomal Dominant 53	Cryptorchidism, Micropenis, Hydronephrosis	OMIM:617798
Martin-Probst Syndrome	Bifid scrotum, Renal insufficiency, Proteinuria, Cryptorchidism, Chordee, Hypoplastic nipples, Um...	OMIM:300519
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Abnormality of the ureter, Ovarian cyst, Bladder polyp, Precocious pube...	OMIM:175200
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp...	OMIM:614129
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypospadias, Cryptorchidism, Urolithiasis, Hyperuricosuria, Death in childho...	OMIM:300661
Legionnaires Disease	Renal insufficiency, Proteinuria, Abnormal pleura morphology, Recurrent pharyngitis, Abnormal lun...	ORPHA:549
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Hypoplasia of the uterus, Renal malrotation, Decreased response to growth hormone stimulation tes...	OMIM:615866
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Severe Congenital Nemaline Myopathy	Micropenis, Hypospadias, Pulmonary hypoplasia	ORPHA:171430
Meckel Syndrome, Type 3	Occipital encephalocele, Multicystic kidney dysplasia, Bile duct proliferation	OMIM:607361
Nephronophthisis 1	Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria...	OMIM:256100
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent respiratory infections, Recurrent urinary tract infections, Prominent superficial veins...	OMIM:612541
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu...	OMIM:618117
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Absent nipple, Patent ductus arteriosus, Umbilical hernia, Ureteral triplication, Hydronephrosis	OMIM:104350
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Macular coloboma, Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Optic atrophy, Subdu...	ORPHA:79282
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Torticollis, Isometric tremor, Ataxia, Clonus, Cerebral palsy, Head titubation, Delayed myelinati...	OMIM:619475
Hyperoxaluria, Primary, Type Ii	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:260000
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the...	ORPHA:3339
Alg9-Cdg	Hypoplasia of the bladder, Ureteral hypoplasia, Hepatic cysts, Abnormal lung lobation, Bicornuate...	ORPHA:79328
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Renal tubular acidosis, Chronic kidney disease, 3-Methylglutaconic aciduria, Intrauterine growth ...	ORPHA:324525
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Abnormality of the urethra, Aplasia of the bladder, Abnormality of the urinary s...	ORPHA:158684
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia, Patent ductus arteriosus, H...	ORPHA:2092
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Supernumerary nipple, Stage 5 chronic kidney disease, Renal hypo...	OMIM:614376
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Chylothorax, Pleural effu...	ORPHA:3015
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Recurrent lower respira...	OMIM:617913
Microtia-Anotia	Holoprosencephaly	OMIM:600674
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Precocious puberty, Renal cyst, Renal cell car...	OMIM:613254
Amed Syndrome, Digenic	Hypoplasia of the uterus, Persistent left superior vena cava	OMIM:619151
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm...	ORPHA:494424
Congenital Disorder Of Glycosylation, Type Il	Polycystic kidney dysplasia	OMIM:608776
Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Exercise-induced myoglobinuria	OMIM:300653
Raine Syndrome	Death in infancy, Hydroureter, Pulmonary hypoplasia, Neonatal death, Hydronephrosis	OMIM:259775
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Abnormality of the u...	ORPHA:93552
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Anencephaly, Pulmonary hypoplasia, Polycystic kidney dysplasia, Occipital meningocele, Micropenis	OMIM:616546
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Renal agenesis, Truncus arteriosus, Renal hypoplasia/aplasia, Abnor...	ORPHA:2538
Trisomy 8P	Cryptorchidism, Fetal pyelectasis, Recurrent upper respiratory tract infections, Abnormal lung lo...	ORPHA:264450
Mosaic Trisomy 8	Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Decreased testicular size	ORPHA:96061
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Episodic hy...	OMIM:171420
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Subdural hemorrhage, Retinal hemorrhage	ORPHA:25
Intellectual Disability, Buenos-Aires Type	Umbilical hernia, Hydronephrosis	ORPHA:3079
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Transient ...	ORPHA:183
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi...	OMIM:277450
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Hydronephrosis	ORPHA:488613
Carey-Fineman-Ziter Syndrome	Hydronephrosis, Glandular hypospadias	ORPHA:1358
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu...	ORPHA:79404
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Hypogonadotropic hypo...	OMIM:604292
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu...	OMIM:617690
Toxic Epidermal Necrolysis	Recurrent respiratory infections, Renal insufficiency, Dysuria, Abnormal pleura morphology, Abnor...	ORPHA:537
Koolen-De Vries Syndrome	Recurrent urinary tract infections, Cryptorchidism, Patent ductus arteriosus, Aortic root aneurys...	OMIM:610443
Fraser Syndrome	Encephalocele, Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, ...	ORPHA:2052
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ...	OMIM:615418
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Recurrent pneumonia, Male urethral meatus stenosis, Left superior vena cava draining...	ORPHA:464738
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto...	ORPHA:709
Vater/Vacterl Association	Renal dysplasia, Occipital encephalocele, Hypospadias, Renal agenesis, Spina bifida, Ectopic kidn...	OMIM:192350
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Giant Cell Arteritis	Renal insufficiency, Abnormal pleura morphology, Recurrent pharyngitis, Vasculitis, Hematuria, Ao...	ORPHA:397
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Patent ductus arteriosus after premature birth, Renal hypoplasia, Renal cys...	OMIM:618460
Atelosteogenesis Type I	Abnormal pancreatic duct morphology, Multiple renal cysts, Pulmonary hypoplasia	ORPHA:1190
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Pulmonary hypoplasia	OMIM:267430
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Renal dysplasia, Urinary bladder inflammation, Hematuria, Aplasia of the blad...	ORPHA:79403
Lethal Congenital Contracture Syndrome 11	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:617194
Seckel Syndrome 7	Hypoplasia of the uterus, Intrauterine growth retardation	OMIM:614851
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Patent ductus arteriosus, Renal agenesis, Cyst...	OMIM:220500
Oculopharyngodistal Myopathy 1	Autophagic vacuoles, Facial palsy, Ataxia, Tremor, Distal amyotrophy, Increased variability in mu...	OMIM:164310
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hydroureter, Patent ductus arteriosus, Hypertrophy of the urinary bladder, Unilateral renal dyspl...	ORPHA:280633
Al-Gazali Syndrome	Recurrent pneumonia, Hydronephrosis	OMIM:609465
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Supernumerary nipple, Cryptorchidism, Arteria lusoria, Vesicoureteral reflux, Micropenis, Pelvic ...	OMIM:618653
Vici Syndrome	Renal tubular acidosis, Recurrent respiratory infections, Ureteral atresia, Death in infancy	ORPHA:1493
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased number of peripheral myelinated nerve fibers, Sandal gap, 2-3 toe syndactyly, Distal am...	ORPHA:477817
Hypermanganesemia With Dystonia 1	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality...	OMIM:613280
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Recurrent respiratory infections, Patent ductus arteriosus, Hydronephrosis, Unilateral breast hyp...	OMIM:300968
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	OMIM:300894
Autosomal Recessive Robinow Syndrome	Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Recurrent respiratory infect...	ORPHA:1507
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal myelination, Action tremor, Rigidity, Truncal ataxia, Astrocytosis, Bradykinesia, Poor f...	ORPHA:309854
Campomelic Dysplasia	Ambiguous genitalia, Male pseudohermaphroditism, Hydronephrosis	ORPHA:140
Satoyoshi Syndrome	Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u...	ORPHA:3130
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Peroxisome Biogenesis Disorder 5A (Zellweger)	Death in infancy, Hypospadias, Cryptorchidism, Renal cyst, Death in adolescence, Hypoplastic nipp...	OMIM:614866
Immunodeficiency 96	Recurrent lower respiratory tract infections, Multicystic kidney dysplasia	OMIM:619774
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury	OMIM:160010
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:618348
Trisomy 18	Spina bifida, Abnormality of the upper urinary tract, Cryptorchidism, Anencephaly, Intrauterine g...	ORPHA:3380
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Al Amyloidosis	Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amyloid deposits,...	ORPHA:85443
Familial Partial Lipodystrophy, Dunnigan Type	Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size	ORPHA:2348
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki...	OMIM:248250
Mody	Abnormality of the kidney, Renal cyst, Glycosuria, Nephropathy, Pancreatic hypoplasia, Intrauteri...	ORPHA:552
Acrocephalopolydactylous Dysplasia	Pancreatic fibrosis, Pulmonary hypoplasia, Extrapulmonary sequestrum, Cystic renal dysplasia, Enl...	OMIM:200995
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Pancreatic cysts, Abnormal lung morphology, Abnormal lymphatic vessel morpho...	ORPHA:464329
Cryoglobulinemic Vasculitis	Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Hematuria	ORPHA:91138
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena...	ORPHA:2322
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Unilateral lung agenesis, Transient ischemic attack, Bilateral renal dysplasi...	ORPHA:500150
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Oliguria, Pulmonary fibrosis	ORPHA:220393
Cystinosis	Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Nephropathy	ORPHA:213
Cousin Syndrome	Hydranencephaly, Ambiguous genitalia, female, Ambiguous genitalia, male, Hydronephrosis	OMIM:260660
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Clinodactyly of the 5th finger, Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morp...	ORPHA:3068
Kallmann Syndrome-Heart Disease Syndrome	Renal agenesis, Hypogonadotropic hypogonadism, Anomalous origin of left coronary artery from the ...	ORPHA:2326
Au-Kline Syndrome	Supernumerary nipple, Cryptorchidism, Lipomyelomeningocele, Chronic kidney disease, Dilatation of...	OMIM:616580
Fanconi Anemia	Abnormality of the uterus, Hypospadias, Spina bifida, Cryptorchidism, Patent ductus arteriosus, A...	ORPHA:84
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos...	ORPHA:223
Waardenburg Syndrome, Type 4A	Ataxia, Leukodystrophy, Spastic paraparesis	OMIM:277580
Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Interrupted aortic arc...	OMIM:300712
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension	OMIM:263400
Hyperuricemia, Hprt-Related	Renal insufficiency, Nephrolithiasis, Hyperuricosuria	OMIM:300323
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro...	OMIM:248190
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Patent ductus arteriosus, Horses...	ORPHA:391641
Amyloidosis, Hereditary, Transthyretin-Related	Peripheral axonal neuropathy, Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, H...	OMIM:105210
Pituitary Deficiency Due To Rathke Cleft Cysts	Intracranial hemorrhage, Hydrocephalus, Optic nerve compression	ORPHA:91350
Campomelia, Cumming Type	Pancreatic cysts, Death in infancy, Multicystic kidney dysplasia, Multiple renal cysts	ORPHA:1318
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Nephronophthisis	OMIM:615630
Jacobsen Syndrome	Death in infancy, Multicystic kidney dysplasia, Recurrent respiratory infections, Spina bifida, C...	ORPHA:2308
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage	OMIM:263300
Omphalocele-Cleft Palate Syndrome, Lethal	Death in infancy, Bicornuate uterus	OMIM:258320
Pparg-Related Familial Partial Lipodystrophy	Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus...	ORPHA:79083
Premature Ovarian Failure 13	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level	OMIM:617442
Baller-Gerold Syndrome	Abnormality of the ureter, Abnormal localization of kidney, Vesicoureteral reflux, Intrauterine g...	ORPHA:1225
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ...	OMIM:612310
Systemic Sclerosis	Renal insufficiency, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Chronic kidney d...	ORPHA:90291
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Precocious puberty, Cryptorchidism, Dilatation of the renal pelvis, ...	ORPHA:2044
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Cryptor...	ORPHA:818
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Familial Hyperaldosteronism Type I	Intracranial hemorrhage, Hypertension, Epistaxis	ORPHA:403
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ataxia, Tremor, Truncal ataxia, Dysmetria, Gliosis, Dystonia, Left ventricular hypertrophy, CNS d...	OMIM:220111
Classic Homocystinuria	Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Pulmonary e...	ORPHA:394
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm...	OMIM:619665
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia	OMIM:618829
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral...	OMIM:309801
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a...	OMIM:600376
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, S...	OMIM:301050
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Renal hypoplasia/aplasia, Patent ductus arteriosus, Pulmonary hypoplasia, Abnormality of female e...	ORPHA:1112
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia	OMIM:619980
Distal Deletion 15Q	Multicystic kidney dysplasia, Hypospadias, Double outlet right ventricle with doubly committed ve...	ORPHA:1596
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Myoclonus, Gait ataxia	ORPHA:70595
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo...	OMIM:609057
Cystinuria	Hematuria, Renal insufficiency, Nephrolithiasis	ORPHA:214
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Vaginal neoplasm, Abnormal lung lobation, Coarctation of aorta, Abn...	ORPHA:1052
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Bardet-Biedl Syndrome 9	Renal insufficiency	OMIM:615986
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal lung lobation, Pulmonary hypoplasia	ORPHA:2631
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Hypospadias, Hydroureter, Small scrotum, Hypoplastic labia minora, Splenopancr...	OMIM:269150
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut...	ORPHA:368
Transketolase Deficiency	Increased level of ribose in urine, Patent ductus arteriosus, Renal cyst, Abnormal coronary arter...	ORPHA:488618
Familial Hyperaldosteronism Type Ii	Intracranial hemorrhage, Hypertension, Epistaxis	ORPHA:404
Ulnar-Mammary Syndrome	Hypoplasia of penis, Cryptorchidism, Renal hypoplasia, Breast aplasia, Abnormality of the uterus,...	ORPHA:3138
Combined Oxidative Phosphorylation Deficiency 12	Delayed CNS myelination, Spastic tetraparesis, Babinski sign, Ragged-red muscle fibers, Bradykine...	OMIM:614924
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla...	ORPHA:84081
Thanatophoric Dysplasia	Intrauterine growth retardation, Patent ductus arteriosus, Pulmonary hypoplasia, Abnormality of t...	ORPHA:2655
Glucose-Galactose Malabsorption	Hematuria, Renal insufficiency, Nephrolithiasis	ORPHA:35710
Igg4-Related Pachymeningitis	Paraparesis, Lower limb muscle weakness	ORPHA:449427
Cerebellar-Facial-Dental Syndrome	Cryptorchidism, Ureteropelvic junction obstruction, Ascending tubular aorta aneurysm, Hydronephrosis	ORPHA:444072
Perrault Syndrome 4	Hypoplasia of the uterus, Increased circulating gonadotropin level, Bicornuate uterus, Hypoplasia...	OMIM:615300
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst...	ORPHA:157
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Renal cyst, Pulmonary hypoplasia, Hyperechogenic kidneys	OMIM:615636
Primary Hyperoxaluria Type 1	Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn...	ORPHA:93598
Schinzel-Giedion Syndrome	Streak ovary, Hypospadias, Nephroblastoma, Recurrent pneumonia, Abnormality of the ureter, Nephro...	ORPHA:798
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage	ORPHA:251274
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm...	OMIM:619203
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Ascending aorta...	OMIM:619503
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Muscular dystrophy, Leukodystrophy	OMIM:616538
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Renal hypoplasia, Renal cyst, Uterus...	ORPHA:93271
Glycogen Storage Disease Vii	Increased muscle glycogen content, Increased variability in muscle fiber diameter	OMIM:232800
Autosomal Recessive Multiple Pterygium Syndrome	Hypoplasia of penis, Small scrotum, Cryptorchidism, Absence of labia majora, Hypogonadism, Pulmon...	ORPHA:2990
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri...	ORPHA:99845
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage	OMIM:243700
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Renal agenesis, Absent external genitalia, Peripheral pulmonary...	OMIM:273395
Ureter, Bifid Or Double	Ureteral duplication	OMIM:191550
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Intrauterine growth retardation, Hydronephrosis	ORPHA:541423
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Oral cavity bleeding, Menorrhagi...	ORPHA:324636
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Renal cyst	ORPHA:79303
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa...	ORPHA:892
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Pulmonary hypoplasia, Polycystic kidney dysplasia, Ambiguous genitalia, Micr...	OMIM:263520
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa...	ORPHA:2232
Choreoacanthocytosis	Peroneal muscle atrophy, Chorea, Hypertonia, Limb dystonia, Muscle fiber atrophy, Laryngeal dysto...	ORPHA:2388
Boutonneuse Fever	Renal insufficiency, Vasculitis	ORPHA:83313
Lethal Congenital Contracture Syndrome 10	Torticollis, Overlapping fingers, Femoral bowing, Macroglossia, Talipes equinovarus, Increased va...	OMIM:617022
Erythrocytosis, Familial, 1	Hypertension, Cerebral hemorrhage, Myocardial infarction	OMIM:133100
Alveolar Echinococcosis	Pulmonary cyst, Pancreatic cysts, Renal cyst, Abnormal bladder morphology, Hepatic cysts	ORPHA:284
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary...	ORPHA:369929
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Nephropathy, Renal insufficiency	ORPHA:1563
Acro-Renal-Mandibular Syndrome	Renal hypoplasia/aplasia, Abnormal lung lobation, Uterus didelphys, Bicornuate uterus, Pulmonary ...	ORPHA:958
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Stillbirth, Pulmonary hypoplasia	OMIM:617468
Fetal Gaucher Disease	Intracranial hemorrhage	ORPHA:85212
Pfeiffer Syndrome Type 3	Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney	ORPHA:93260
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Supernumerary nipple, Abnormal aortic morphology, Umbilical hernia,...	ORPHA:1001
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Duplicated collecting system, Pulmonary artery stenosis, Double outlet right ventricle, Hydrocele...	OMIM:280000
15Q Overgrowth Syndrome	Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Intrauterine growth retarda...	ORPHA:314585
Congenital Tracheal Stenosis	Abnormality of the kidney, Ascending aorta hypoplasia, Abnormal lung morphology, Patent ductus ar...	ORPHA:141127
Joubert Syndrome 9	Encephalocele, Stage 5 chronic kidney disease	OMIM:612285
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Incoordination, Ataxia, Macroglossia, Arthrogryposis-like hand anomaly, Camptodactyly...	ORPHA:369891
Joubert Syndrome 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Isovaleric Acidemia	Cerebellar hemorrhage	OMIM:243500
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Bifid scrotum, Hypospadias, Cryptorchidism, Penoscrotal transposition, Patent duct...	OMIM:619148
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Abnormal eosinophil morphology, Epi...	ORPHA:906
Robinow Syndrome	Multicystic kidney dysplasia, Small scrotum, External genital hypoplasia, Cryptorchidism, Coarcta...	ORPHA:97360
Drug Reaction With Eosinophilia And Systemic Symptoms	Interstitial pneumonitis, Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome	ORPHA:139402
Menkes Disease	Intracranial hemorrhage	OMIM:309400
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Umbilical hernia, Intrauterine growth retardation, Hydronephrosis, Large placenta	ORPHA:254528
Congenital Disorder Of Glycosylation, Type Iie	Death in infancy, Neurogenic bladder, Hydronephrosis, Intrauterine growth retardation	OMIM:608779
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury	OMIM:268200
Stromme Syndrome	Stillbirth, Bilateral renal hypoplasia, Hydronephrosis	OMIM:243605
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T...	ORPHA:228308
Satoyoshi Syndrome	Hypoplasia of the uterus	OMIM:600705
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Intrauterine growth retardation, Hydronephrosis	OMIM:617093
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Patent ductus arterios...	OMIM:267010
Pseudotrisomy 13 Syndrome	Encephalocele, Renal agenesis, Cryptorchidism, Renal hypoplasia, Coarctation of aorta, Bicornuate...	OMIM:264480
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Intracranial hemorrhag...	ORPHA:163979
Omodysplasia 2	Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Labial hypoplasia, Micropenis	OMIM:164745
Myasthenic Syndrome, Congenital, 19	Increased variability in muscle fiber diameter, Facial palsy	OMIM:616720
Renal Agenesis, Bilateral	Abnormal morphology of female internal genitalia, Renal agenesis, Pulmonary hypoplasia, Sirenomelia	ORPHA:1848
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ...	OMIM:612925
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Moderate albuminuria, Hydronephrosis	OMIM:619269
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Medulloblastoma	Cerebellar hemorrhage, Hydrocephalus	ORPHA:616
Avian Influenza	Miscarriage, Pneumonia, Pneumothorax, Pleural effusion, Acute kidney injury	ORPHA:454836
Propionic Acidemia	Cardiomyopathy, Cerebellar hemorrhage	OMIM:606054
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Patent ductus arteriosus, Arterial stenosis, Arteriovenous malforma...	ORPHA:1556
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Hypoplasia of the uterus, ...	ORPHA:785
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Megacystis, Hydronephrosis	OMIM:619431
Holoprosencephaly-Caudal Dysgenesis Syndrome	Renal insufficiency, Abnormal cerebral vascular morphology	ORPHA:2165
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Dubowitz Syndrome	Hypoparathyroidism, Hypospadias, Cryptorchidism, Abnormality of female external genitalia, Spina ...	ORPHA:235
Diphallia	Bifid scrotum, Ureteral duplication, Renal malrotation, Rectoperineal fistula, Hypospadias, Dista...	ORPHA:227
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney	OMIM:613091
Histiocytoid Cardiomyopathy	Stroke-like episode, Pulmonary edema, Renal cyst, Polycystic ovaries	ORPHA:137675
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Death in childhood, Renal insufficiency, Mild proteinuria	OMIM:619147
Car T Cell Therapy-Associated Cytokine Release Syndrome	Pleural effusion, Acute kidney injury, Decreased urine output, Pulmonary edema	ORPHA:542323
Attenuated Familial Adenomatous Polyposis	Uterine leiomyoma, Multiple renal cysts	ORPHA:220460
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Patent ductus arteriosus, Renal cyst, Coar...	OMIM:617260
Familial Dysautonomia	Glomerulopathy, Renal insufficiency, Recurrent respiratory infections, Abnormality of the kidney,...	ORPHA:1764
Native American Myopathy	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Talip...	ORPHA:168572
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I...	OMIM:602522
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal...	OMIM:613159
Tetrasomy 9P	Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Juxtaductal coarctation ...	ORPHA:3310
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:713
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Pseudo-Torch Syndrome 1	Patent ductus arteriosus, Umbilical hernia, Renal insufficiency	OMIM:251290
Coenzyme Q10 Deficiency, Primary, 1	Ataxia, Tremor, Ragged-red muscle fibers, Myoclonus, Right hemiplegia, Decreased level of coenzym...	OMIM:607426
Rift Valley Fever	Hemiparesis, Paraparesis, Decerebrate rigidity, Paralysis	ORPHA:319251
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive r...	ORPHA:276621
Acrofacial Dysostosis, Rodríguez Type	Intrauterine growth retardation, Abnormality of the uterus, Renal hypoplasia/aplasia	ORPHA:1788
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria	ORPHA:284426
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R...	OMIM:243910
Hyperphosphatasia-Intellectual Disability Syndrome	Hydronephrosis, Supernumerary nipple	ORPHA:247262
Rhizomelic Limb Shortening With Dysmorphic Features	Stage 1 chronic kidney disease	OMIM:618821
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter...	ORPHA:373
White-Kernohan Syndrome	Hydroureter, Rectovaginal fistula, Hydronephrosis, Horseshoe kidney	OMIM:619426
Alg3-Cdg	Neural tube defect, Coarctation of the descending aortic arch, Cardiomyopathy	ORPHA:79321
Autosomal Recessive Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Spontaneous pneumothorax, Pancreatic cys...	ORPHA:731
Vacterl With Hydrocephalus	Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Cryptorchidism, Pulmonary hypoplasia, Abn...	ORPHA:3412
Currarino Syndrome	Recurrent urinary tract infections, Neurogenic bladder, Urinary incontinence, Septate vagina, Hor...	OMIM:176450
Hypophosphatasia, Infantile	Intracranial hemorrhage	OMIM:241500
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Cryptorchidism, Imperforat...	OMIM:619522
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Decreased resp...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Decreased resp...	ORPHA:363958
Joubert Syndrome With Oculorenal Defect	Encephalocele, Nephropathy, Renal insufficiency	ORPHA:2318
Hermansky-Pudlak Syndrome 1	Renal insufficiency, Pulmonary fibrosis	OMIM:203300
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Pancreatic cysts, Renal cyst, Polycystic kidney dysplasia, Umbilical hernia, Pancreatic hypoplasi...	OMIM:610199
Distal Deletion 12Q	Unilateral cryptorchidism, Ectopic kidney, Patent ductus arteriosus, Pituitary adenoma, Annular p...	ORPHA:96149
Hardikar Syndrome	Hypoplasia of the bladder, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, ...	OMIM:301068
Woodhouse-Sakati Syndrome	Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ...	OMIM:241080
Neurodegeneration And Seizures Due To Copper Transport Defect	Pneumothorax, Pulmonary hypoplasia, Glandular hypospadias	OMIM:620306
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Recurrent respiratory infections, Pancreatic cysts, Stage 5 chronic kidney ...	OMIM:266920
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Pulmonary hypoplasia	OMIM:618174
Pseudo-Torch Syndrome 3	Death in infancy, Acute kidney injury, Proteinuria, Cerebral hemorrhage	OMIM:618886
Cholera	Abnormality of renal excretion, Miscarriage, Stroke, Aspiration pneumonia, Acute kidney injury, D...	ORPHA:173
Joubert Syndrome With Renal Defect	Encephalocele, Nephropathy, Renal insufficiency	ORPHA:220497
Meningococcal Meningitis	Renal insufficiency, Stroke	ORPHA:33475
Schimke Immuno-Osseous Dysplasia	Proteinuria, Transient ischemic attack, Minimal change glomerulonephritis, Stage 5 chronic kidney...	ORPHA:1830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Decreased testicular size, Occipital encephalocele, Multicystic kidney dysplasia, Anencephaly, Mi...	OMIM:615287
22Q11.2 Deletion Syndrome	Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of the thymus, Abnormality of...	ORPHA:567
Robinow Syndrome, Autosomal Recessive 1	Cryptorchidism, Nephrolithiasis, Nephrocalcinosis, Hypoplastic labia majora, Clitoral hypoplasia,...	OMIM:268310
46,Xx Sex Reversal 1	True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex...	OMIM:400045
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Biliary hyperplasia, Cryptorchidism, Pulmonary hypoplasia, Intrauterine growth retardation, Micro...	ORPHA:83617
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Exencephaly	ORPHA:2211
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia	OMIM:613124
Eec Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Renal hypoplasia/aplasia, Ure...	ORPHA:1896
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Transient ischemic attack, Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:2995
Woodhouse-Sakati Syndrome	Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ...	ORPHA:3464
Melnick-Needles Syndrome	Recurrent respiratory infections, Stillbirth, Ureteral stenosis, Hydronephrosis	OMIM:309350
Lead Poisoning	Miscarriage, Chronic kidney disease, Oligozoospermia, Renal tubular dysfunction, Tubulointerstiti...	ORPHA:330015
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2715
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Renal insufficiency, Occipital encephalocele	ORPHA:1454
Dyssegmental Dysplasia, Silverman-Handmaker Type	Neonatal death, Occipital encephalocele, Pulmonary hypoplasia, Cryptorchidism	OMIM:224410
Pelizaeus-Merzbacher Disease In Female Carriers	Lower limb spasticity, Babinski sign, CNS hypomyelination, Spastic paraparesis, Hand apraxia	ORPHA:280229
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Short humerus, Short femur, Ragged-red muscle fibers, Flexion contractur...	ORPHA:17
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys...	DECIPHER:81
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave	ORPHA:231625
Ulbright-Hodes Syndrome	Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Cryptorchidism, Pn...	ORPHA:3404
Meckel Syndrome	Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancreat...	ORPHA:564
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Rectovaginal fistula, Renal duplication	OMIM:270420
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis	OMIM:249210
Hypomagnesemia 2, Renal	Renal magnesium wasting, Renal insufficiency, Hypocalciuria	OMIM:154020
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Renal cyst, Horseshoe kidney	OMIM:250410
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethylmalonic aciduria, Polycystic k...	ORPHA:26791
Developmental And Epileptic Encephalopathy 82	Spastic tetraplegia, Spastic paraparesis	OMIM:618721
Joubert Syndrome 1	Nephropathy, Renal cyst, Occipital myelomeningocele	OMIM:213300
Charge Syndrome	Bifid scrotum, Aortic arch aneurysm, Hypogonadotropic hypogonadism, Cryptorchidism, Patent ductus...	ORPHA:138
Primary Sjögren Syndrome	Renal insufficiency, Parotitis, Glomerulonephritis, Abnormality of the kidney, Bronchitis, Lympho...	ORPHA:289390
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Spina bifida, Hematuria, Nephrotic syndrome	OMIM:161200
Bacterial Toxic-Shock Syndrome	Recurrent urinary tract infections, Renal insufficiency, Pneumonia, Glomerulonephritis, Respirato...	ORPHA:36234
Ethylene Glycol Poisoning	Renal insufficiency, Renal tubular epithelial necrosis, Renal tubular dysfunction, Hematuria, Dec...	ORPHA:31826
Nijmegen Breakage Syndrome	Recurrent urinary tract infections, Recurrent pneumonia, Bronchiectasis, Intrauterine growth reta...	OMIM:251260
Autosomal Dominant Progressive External Ophthalmoplegia	Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Hypertonia, Ataxia, Fa...	ORPHA:254892
Oculocerebrorenal Syndrome Of Lowe	Glomerulopathy, Renal insufficiency, Death in infancy, Proteinuria, Recurrent respiratory infecti...	ORPHA:534
Cryoglobulinemia, Familial Mixed	Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology	OMIM:123550
Teebi Hypertelorism Syndrome 1	Hydrocele testis, Aortic root aneurysm, Bicornuate uterus, Pulmonary hypoplasia, Shawl scrotum	OMIM:145420
Bannayan-Riley-Ruvalcaba Syndrome	Angina pectoris, Telangiectasia, Intracranial hemorrhage, Abnormal optic nerve morphology, Arteri...	ORPHA:109
Genitopatellar Syndrome	Multicystic kidney dysplasia, Small scrotum, Enlarged labia minora, Cryptorchidism, Pulmonary hyp...	OMIM:606170
Teebi-Shaltout Syndrome	Ureteral stenosis, Hydronephrosis, Horseshoe kidney	OMIM:272950
Atelosteogenesis, Type Ii	Death in infancy, Stillbirth, Pulmonary hypoplasia	OMIM:256050
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter	OMIM:615595
Floating-Harbor Syndrome	Hypospadias, Cryptorchidism, Glandular hypospadias, Varicocele, Coarctation of aorta, Nephrocalci...	OMIM:136140
Estrogen Resistance	Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries	OMIM:615363
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Patent ductus arteriosus, Annular pancreas, Tetralogy of Fallot, Hydronephrosis	ORPHA:210122
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Peripheral arterial stenosis...	OMIM:259900
Nephrolithiasis, Calcium Oxalate, 1	Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit...	OMIM:167030
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612926
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Recurrent respiratory infections, Renal insufficiency, Proteinuria, Abnormal pulmonary interstiti...	OMIM:614748
Stevens-Johnson Syndrome	Recurrent respiratory infections, Renal insufficiency, Dysuria, Abnormal pleura morphology, Abnor...	ORPHA:36426
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Abnormality...	ORPHA:857
Tempi Syndrome	Intracranial hemorrhage, Telangiectasia	ORPHA:284227
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr...	ORPHA:99901
Cerebrocostomandibular Syndrome	Death in infancy, Multicystic kidney dysplasia, Spina bifida, Myelomeningocele, Meningocele, Hydr...	ORPHA:1393
Pheochromocytoma	Tachycardia, Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Episodic hy...	OMIM:171300
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased number of peripheral myelinated nerve fibers, Osteolytic defects of the phalanges of th...	OMIM:201300
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot...	OMIM:620300
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Apert Syndrome	Cryptorchidism, Vaginal atresia, Overriding aorta, Hydronephrosis	OMIM:101200
Larsen-Like Syndrome, Lethal Type	Neonatal death, Pulmonary hypoplasia	OMIM:245650
Coccidioidomycosis	Renal insufficiency, Abnormal sperm morphology, Abnormality of the kidney, Pneumonia, Vasculitis,...	ORPHA:228123
Cystinosis, Nephropathic	Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Ne...	OMIM:219800
Fabry Disease	Renal insufficiency, Proteinuria, Transient ischemic attack, Urinary mulberry cells, Lipiduria	OMIM:301500
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidneys	OMIM:613845
Hajdu-Cheney Syndrome	Hypospadias, Cryptorchidism, Patent ductus arteriosus, Renal cyst, Polycystic kidney dysplasia, U...	OMIM:102500
Humeroradial Synostosis	Renal insufficiency	OMIM:236400
Microscopic Polyangiitis	Glomerulopathy, Renal insufficiency, Vasculitis, Oliguria, Hematuria	ORPHA:727
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypospadias, Cryptorchidism, Patent ductus arteriosus, Renal cyst, Vesicoureteral reflux, Intraut...	OMIM:616975
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Intraventricular hemorrhage, Hydrocephalus	OMIM:613603
Stormorken Syndrome	Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Bruising susceptibility	OMIM:185070
Fatty Acid Hydroxylase-Associated Neurodegeneration	Generalized dystonia, Progressive spastic paraparesis, Optic atrophy, Progressive spastic quadrip...	ORPHA:329308
Primary Fanconi Renotubular Syndrome	Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu...	ORPHA:3337
Waldenström Macroglobulinemia	Pleural effusion, Renal insufficiency, Vasculitis, Stroke	ORPHA:33226
Congenital Disorder Of Glycosylation, Type If	Death in infancy, Renal cortical cysts	OMIM:609180
Scrub Typhus	Renal insufficiency	ORPHA:83317
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612924
Epidermal Nevus Syndrome	Polycystic kidney dysplasia, Aortic aneurysm	ORPHA:35125
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Septate vagina, Uterus didelphys, Pulmonary hypoplasia, Neonatal death, Micro...	OMIM:617925
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Deviation of the 5th toe, Severe demyelination of the white matter, Delayed myelination, Slender ...	ORPHA:391408
Mercury Poisoning	Interstitial pneumonitis, Acute kidney injury	ORPHA:330021
Enamel-Renal Syndrome	Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En...	ORPHA:1031
Helix Syndrome	Renal insufficiency, Hyperparathyroidism, Polyuria, Nephrolithiasis, Hypocalciuria	OMIM:617671
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Thoracic aortic aneurysm, Patent ductus arteriosus, Megacystis, Pyelonephritis, Fetal meg...	OMIM:619351
Cardiofaciocutaneous Syndrome	Cryptorchidism, Hydronephrosis	ORPHA:1340
Ureterocele	Duplicated collecting system, Ureterocele	OMIM:191650
Refsum Disease	Renal insufficiency	ORPHA:773
Distal Deletion 10Q	Patent ductus arteriosus, Functional abnormality of the bladder, Spina bifida occulta, Horseshoe ...	ORPHA:96148
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy, Pulmonary hypoplasia	OMIM:601163
Congenital Disorder Of Glycosylation, Type It	Hydronephrosis, Coarctation of aorta	OMIM:614921
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid...	OMIM:277400
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth...	OMIM:130050
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Coronary artery dissection, Stage 5 ...	ORPHA:2614
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s...	ORPHA:573278
Chondrodysplasia Punctata 2, X-Linked Dominant	Hydronephrosis	OMIM:302960
Alagille Syndrome 1	Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas...	OMIM:118450
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Pneumonia, Cry...	ORPHA:353281
Gaucher Disease, Type Iii	Ataxia, Myoclonus, Spastic paraparesis	OMIM:231000
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Renal cyst, Absen...	ORPHA:495875
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lower limb spasticity, Ataxia, Optic atrophy, Hemiparesis, Spastic paraparesis, Lower limb muscle...	ORPHA:395
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Renal cyst	OMIM:601539
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cardiomyopathy, Cerebellar hemorrhage	OMIM:251000
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta...	OMIM:251300
C Syndrome	Patent ductus arteriosus, Cryptorchidism, Clitoral hypertrophy, Renal cortical cysts	OMIM:211750
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,...	OMIM:613090
Cranioectodermal Dysplasia 4	Recurrent pneumonia, Stage 5 chronic kidney disease	OMIM:614378
Autoinflammatory Disease, Systemic, X-Linked	Chorioretinitis, Optic neuritis, Cerebral hemorrhage	OMIM:301081
Hereditary Pheochromocytoma-Paraganglioma	Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive r...	ORPHA:29072
Juvenile Nephropathic Cystinosis	Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,...	ORPHA:411634
Schwartz-Jampel Syndrome	Death in infancy, Abnormality of the ureter, Nephrolithiasis, Abnormality of the urinary system, ...	ORPHA:800
Cockayne Syndrome Type 1	Male hypogonadism, Renal insufficiency, Proteinuria, Cryptorchidism	ORPHA:90321
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Horseshoe kidney, ...	OMIM:201750
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ...	ORPHA:488627
Frontometaphyseal Dysplasia 1	Hydroureter, Hydronephrosis	OMIM:305620
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Cryptorchidism, Pneumothorax, Nephrotic syndrome, Umbilical hernia, Hydronephrosis	OMIM:601776
Ovarian Fibrothecoma	Ovarian fibroma, Abnormal endometrium morphology, Gonadal calcification, Pleural effusion, Abnorm...	ORPHA:314478
Rubinstein-Taybi Syndrome 1	Hypospadias, Spina bifida, Premature thelarche, Bilateral cryptorchidism, Cryptorchidism, Respira...	OMIM:180849
Beckwith-Wiedemann Syndrome	Overgrowth of external genitalia, Cryptorchidism, Pancreatic hyperplasia, Nephrolithiasis, Renal ...	OMIM:130650
Primary Hyperoxaluria	Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic...	ORPHA:416
Wolcott-Rallison Syndrome	Renal insufficiency, Chronic kidney disease, Double outlet right ventricle	ORPHA:1667
Sarcoidosis	Renal insufficiency, Abnormal pleura morphology, Abnormal reproductive system morphology, Abnorma...	ORPHA:797
Joubert Syndrome 6	Bile duct proliferation, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:610688
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Supernumerary nipple, Cryptorchidism, Branchial anomaly, Vesicoureteral reflux, Hydronephrosis, A...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Supernumerary nipple, Cryptorchidism, Branchial anomaly, Vesicoureteral reflux, Hydronephrosis, A...	ORPHA:352665
Meier-Gorlin Syndrome 7	Urethral stricture, Hypospadias, Cryptorchidism, Breast aplasia, Pulmonary hypoplasia, Vesicouret...	OMIM:617063
Galloway-Mowat Syndrome 9	Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:619603
Immunoglobulin A Vasculitis	Glomerulopathy, Renal insufficiency, Proteinuria, Orchitis, Vasculitis, Hematuria	ORPHA:761
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hyperechogenic kidneys, Polycystic kidney dysplasia	OMIM:617866
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hemoper...	ORPHA:99827
Foix-Alajouanine Syndrome	Distal lower limb amyotrophy, Progressive spastic paraparesis, Frequent falls, Distal lower limb ...	ORPHA:79093
Hemorrhagic Fever-Renal Syndrome	Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Chronic kidney disease, Oliguria, Acute tubul...	ORPHA:340
Liddle Syndrome 1	Renal insufficiency	OMIM:177200
Familial Mediterranean Fever	Orchitis, Stage 5 chronic kidney disease, Nephrotic syndrome, Renal amyloidosis, Pleural effusion...	OMIM:249100
Visceral Myopathy 1	Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis	OMIM:155310
Phelan-Mcdermid Syndrome	Vesicoureteral reflux, Patent ductus arteriosus, Abnormality of the kidney, Polycystic kidney dys...	OMIM:606232
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Renal cyst, Varicose veins, Nephroblastoma, Bifid ureter, Renal dysplasia	OMIM:617107
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Recurrent upper respiratory tract infections, Hematuria, Focal ...	OMIM:232240
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia	Spastic paraparesis, Palatal tremor, Truncal ataxia	OMIM:113610
Townes-Brocks Syndrome 1	Bifid scrotum, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Re...	OMIM:107480
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Abnormal renal tubule morphology	ORPHA:440713
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Unilateral renal agenesis, Recurrent pneumonia, D-2-hydroxyglutaric aciduria, Vascular tortuosity...	ORPHA:99646
Hyperuricemic Nephropathy, Familial Juvenile, 3	Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morphology	OMIM:614227
Spondyloenchondrodysplasia	Proteinuria, Pneumonia, Decreased response to growth hormone stimulation test, Vasculitis, Chroni...	ORPHA:1855
3Mc Syndrome 1	Patent ductus arteriosus, Spina bifida occulta, Hydronephrosis, Supernumerary nipple	OMIM:257920
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis,...	ORPHA:2750
Charge Syndrome	External genital hypoplasia, Decreased response to growth hormone stimulation test, Gonadotropin ...	OMIM:214800
Codas Syndrome	Hydroureter	ORPHA:1458
Orofaciodigital Syndrome I	Proteinuria, Pancreatic cysts, Vascular dilatation, Myelomeningocele, Ovarian cyst, Polycystic ki...	OMIM:311200
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Uterine prolapse, Precocious puberty, Cryptorchidism, Anomalous origin of left subclavian artery,...	ORPHA:438213
Donnai-Barrow Syndrome	Non-acidotic proximal tubulopathy, Umbilical hernia, Proteinuria, Bicornuate uterus	OMIM:222448
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Bilateral trilobed lung, Ureteral stenosis, Patent ductus arteriosus, Parti...	OMIM:270100
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Autoamputation o...	OMIM:256810
Peters-Plus Syndrome	Ureteral duplication, Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism...	OMIM:261540
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Duplication of renal pelvis, Ureteral duplication, Endometrial carcinoma	ORPHA:457212
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Patent ductus arteriosus, Microscopic hematuria	ORPHA:86818
Kabuki Syndrome 1	Crossed fused renal ectopia, Premature thelarche, Cryptorchidism, Micropenis, Coarctation of aort...	OMIM:147920
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Nodular pattern on pulmonary H...	OMIM:233450
Joubert Syndrome 39	Occipital encephalocele, Polycystic kidney dysplasia	OMIM:619562
Chand Syndrome	Atelectasis, Hydroureter, Imperforate hymen	ORPHA:1401
Cardiac Valvular Dysplasia 1	Hydroureter, Arteria lusoria, Left aortic arch with cervical origin of the right subclavian arter...	OMIM:212093
Mpdu1-Cdg	Decreased response to growth hormone stimulation test, Renal cortical cysts	ORPHA:79323
Mandibulofacial Dysostosis With Alopecia	Hydroureter	OMIM:616367
Cataracts, Spastic Paraparesis, And Speech Delay	Spastic paraparesis	OMIM:619338
Acute Intermittent Porphyria	Dark urine, Renal insufficiency, Dysuria, Urinary incontinence, Porphyrinuria, Increased urinary ...	ORPHA:79276
Lujo Hemorrhagic Fever	Atelectasis, Renal insufficiency, Microscopic hematuria, Oliguria	ORPHA:319213
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Rhombencephalosynapsis	Abnormal renal morphology, Abnormality of the uterus	ORPHA:59315
Relapsing Fever	Hematuria, Abnormality of the urinary system, Acute kidney injury	ORPHA:91547
Campomelic Dysplasia	Hypospadias, Spina bifida, Recurrent upper respiratory tract infections, Spinal dysraphism, Sex r...	OMIM:114290
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease, Hepatic cysts	OMIM:613819
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia	ORPHA:261197
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulati...	OMIM:609441
Neu-Laxova Syndrome 1	Renal agenesis, Spina bifida, Bifid uterus, Cryptorchidism, Patent ductus arteriosus, Stillbirth,...	OMIM:256520
1P36 Deletion Syndrome	Aortic arch aneurysm, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Cryptorchidism...	ORPHA:1606
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis...	ORPHA:821
Syndromic Diarrhea	Patent ductus arteriosus, Renal hypoplasia, Hypoplasia of the thymus, Polycystic kidney dysplasia...	ORPHA:84064
Familial Visceral Myopathy	Hyperparathyroidism, Hydroureter, Megacystis, Vesicoureteral reflux, Umbilical hernia	ORPHA:2604
Autosomal Recessive Cutis Laxa Type 1	Recurrent urinary tract infections, Vascular dilatation, Dilatation of the ventricular cavity, Pn...	ORPHA:90349
Hellp Syndrome	Proteinuria, Cerebral hemorrhage, Hemoglobinuria, Pleural effusion, Acute kidney injury, Pulmonar...	ORPHA:244242
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Sirenomelia, Nephrocalcin...	ORPHA:79500
Williams Syndrome	Hypoplasia of penis, Abnormal cerebral vascular morphology, Abnormal tubulointerstitial morpholog...	ORPHA:904
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dystrophy, Increased ...	OMIM:613150
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Abnormality of the kidney, Enlarged lacrimal glands, Abnormal pancreas morph...	ORPHA:449432
Calciphylaxis	Arterial calcification, Stage 5 chronic kidney disease, Secondary hyperparathyroidism	ORPHA:280062
Tyrosinemia, Type I	Renal insufficiency, Nephrocalcinosis, Renal Fanconi syndrome, Glomerular sclerosis, Enlarged kid...	OMIM:276700
Fabry Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Transient ischemic attack, Hematuria, Nephrotic...	ORPHA:324
1P31P32 Microdeletion Syndrome	Intraventricular hemorrhage, Moyamoya phenomenon	ORPHA:401986
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ambiguous genitalia, Pulmonary hypoplasia	OMIM:617895
Pyomyositis	Renal insufficiency, Testicular teratoma	ORPHA:764
Relapsing Polychondritis	Glomerulopathy, Renal insufficiency, Proteinuria, Atelectasis, Large vessel vasculitis, Hematuria...	ORPHA:728
Thyrotoxic Periodic Paralysis	Abnormal muscle fiber morphology, Tremor, Paralysis, Rhabdomyolysis, Tetraplegia, Respiratory par...	ORPHA:79102
Menkes Disease	Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp...	ORPHA:565
Cockayne Syndrome A	Hip contracture, Ataxia, Abnormal peripheral myelination, Tremor, Optic atrophy, Ivory epiphyses ...	OMIM:216400
Adrenomyeloneuropathy	Peripheral axonal degeneration, Cerebral dysmyelination, Progressive spastic paraparesis, Axonal ...	ORPHA:139399
Xfe Progeroid Syndrome	Renal insufficiency, Proteinuria, Death in adolescence	OMIM:610965
1Q41Q42 Microdeletion Syndrome	Cryptorchidism, Hypergonadotropic hypogonadism, Pulmonary hypoplasia	ORPHA:250999
Knobloch Syndrome 1	Duplicated collecting system, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occ...	OMIM:267750
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Ataxia, Dysdiadochokinesis, Peripheral hypomyelination, Chronic axonal neuropathy, Intention tremor	OMIM:612780
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Coarctation of aorta, N...	OMIM:617729
Osteogenesis Imperfecta, Type Vii	Death in infancy, Absent pulmonary artery, Hydronephrosis, Hypoplastic pulmonary veins	OMIM:610682
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Cardiofaciocutaneous Syndrome 1	Hydronephrosis	OMIM:115150
Arboleda-Tham Syndrome	Recurrent respiratory infections, Recurrent urinary tract infections, Bilateral cryptorchidism, P...	OMIM:616268
Danon Disease	Myocardial necrosis, Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy,...	OMIM:300257
Scimitar Syndrome	Recurrent respiratory infections, Anomalous origin of left coronary artery from the pulmonary art...	ORPHA:185
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephal...	OMIM:175780
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Cryptorchidism, Renal hypoplasia, Renal cyst, Coarctation of aorta, Stillbirth,...	OMIM:210710
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Enuresis, Renal Fanconi syndrome, Proximal tubulopathy, Organic a...	OMIM:619743
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Abnormality of...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Abnormality of...	ORPHA:353277
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Interstitial emphysema, Dilatation of the renal pelvis, Bronchiectasis, Rectovaginal fistula, Pul...	OMIM:619708
Fetal Akinesia Deformation Sequence	Cryptorchidism, Pulmonary hypoplasia, Intrauterine growth retardation	ORPHA:994
Restrictive Dermopathy 1	Ureteral duplication, Hypospadias, Patent ductus arteriosus, Hydropic placenta, Stillbirth, Short...	OMIM:275210
Castleman Disease	Hematuria, Renal insufficiency, Ureteral obstruction	ORPHA:160
Trisomy 10P	Absent gallbladder, Abnormality of the kidney, Multiple renal cysts, Rectovaginal fistula, Intrau...	ORPHA:171929
Williams-Beuren Syndrome	Renal insufficiency, Recurrent urinary tract infections, Retinal arteriolar tortuosity, Urethral ...	OMIM:194050
Fraser Syndrome 1	Encephalocele, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Myelomeningocele, Renal hyp...	OMIM:219000
D-Bifunctional Protein Deficiency	Bile duct proliferation, Renal cyst	OMIM:261515
Porphyria Variegata	Neurogenic bladder, Chronic kidney disease, Porphyrinuria, Increased urinary porphobilinogen, Ele...	ORPHA:79473
Acute Adrenal Insufficiency	Renal insufficiency, Decreased urinary potassium, Renal salt wasting, Stroke, Recurrent acute res...	ORPHA:95409
Beckwith-Wiedemann Syndrome	Ureteral duplication, Large placenta, Cryptorchidism, Abnormal pancreas morphology, Nephrolithias...	ORPHA:116
Gabriele-De Vries Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Breast hypoplasia, Intraut...	ORPHA:506358
Lacrimoauriculodentodigital Syndrome	Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Bicornuate uterus, Vesicoureteral ref...	ORPHA:2363
Joubert Syndrome 5	Occipital encephalocele, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Re...	OMIM:610188
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Cryptorchidism, A...	ORPHA:2636
Liver Disease, Severe Congenital	Recurrent urinary tract infections, Hypospadias, Pneumonia, Biliary hyperplasia, Patent ductus ar...	OMIM:619991
Holoprosencephaly 3	Hydronephrosis	OMIM:142945
Roberts Syndrome	Cryptorchidism, Long penis, Severe intrauterine growth retardation, Polycystic kidney dysplasia, ...	ORPHA:3103
Frontometaphyseal Dysplasia	Hydronephrosis, Urethral stenosis, Spina bifida occulta, Ureteral obstruction	ORPHA:1826
Idiopathic Hypereosinophilic Syndrome	Transient ischemic attack, Eosinophilia, Supraventricular arrhythmia, Pulmonary embolism, Raynaud...	ORPHA:3260
Behçet Disease	Glomerulopathy, Renal insufficiency, Orchitis, Vasculitis, Pleural effusion, Pleuritis	ORPHA:117
Lmna-Related Cardiocutaneous Progeria Syndrome	Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath...	ORPHA:363618
Bohring-Opitz Syndrome	Syndactyly, Overlapping toe, Delayed peripheral myelination, Tapered finger, Mesomelic/rhizomelic...	OMIM:605039
Ogden Syndrome	Global glomerulosclerosis, Peripheral pulmonary artery stenosis, Cryptorchidism, Pulmonary artery...	OMIM:300855
Sickle Cell Disease	Hematuria, Cholelithiasis, Renal insufficiency, Stroke	OMIM:603903
Microsporidiosis	Pneumonia, Bronchitis, Abnormality of the parathyroid gland, Urethritis, Abnormal endometrium mor...	ORPHA:2552
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Long penis, Abnormal lung l...	ORPHA:744
Okamoto Syndrome	Urinary incontinence, Bifid uterus, Unilateral renal hypoplasia, Ureteropelvic junction obstructi...	ORPHA:2729
Lethal Congenital Contracture Syndrome 1	Neonatal death, Pulmonary hypoplasia	OMIM:253310
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Extrapyramidal muscular rigidity, Tremor, Hemiplegia/hemip...	ORPHA:51
Occipital Horn Syndrome	Hydronephrosis, Bladder diverticulum, Ureteral obstruction, Carotid artery tortuosity	OMIM:304150
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Hyperparathyroidism	OMIM:620366
Focal Dermal Hypoplasia	Ureteral duplication, Supernumerary nipple, Cryptorchidism, Myelomeningocele, Spina bifida occult...	OMIM:305600
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph...	ORPHA:2975
Arteriosclerosis, Severe Juvenile	Central retinal vessel vascular tortuosity, Chronic kidney disease, Calcification of the aorta, A...	OMIM:208060
Hajdu-Cheney Syndrome	Recurrent respiratory infections, Hypospadias, Patent ductus arteriosus, Multiple renal cysts, Um...	ORPHA:955
Multiple Myeloma	Abnormality of the bladder, Nephrotic syndrome, Nephropathy, Pleural effusion, Acute kidney injury	ORPHA:29073
Glycogen Storage Disease Xii	Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting	OMIM:611881
Hermansky-Pudlak Syndrome	Renal insufficiency, Pulmonary fibrosis	ORPHA:79430
Cranioectodermal Dysplasia 3	Peripheral pulmonary artery stenosis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:614099
Intellectual Developmental Disorder, Autosomal Dominant 42	Hydronephrosis, Ureteropelvic junction obstruction, Neurogenic bladder	OMIM:616973
Chime Syndrome	Transposition of the great arteries, Tetralogy of Fallot, Hydronephrosis, Abnormality of the kidney	ORPHA:3474
C Syndrome	Death in infancy, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Horsesh...	ORPHA:1308
Esophageal Atresia	Recurrent respiratory infections, Abnormal external genitalia, Renal agenesis, Bronchitis, Coarct...	ORPHA:1199
Robinow Syndrome, Autosomal Dominant 1	Cryptorchidism, Hypoplastic labia majora, Clitoral hypoplasia, Umbilical hernia, Micropenis, Hydr...	OMIM:180700
Osteopetrosis With Renal Tubular Acidosis	Nephrolithiasis, Proximal renal tubular acidosis, Renal tubular acidosis, Secondary hyperparathyr...	ORPHA:2785
Shigellosis	Hemolytic-uremic syndrome, Acute kidney injury, Pneumonia, Urethritis	ORPHA:810
Cranioectodermal Dysplasia 2	Renal insufficiency, Patent ductus arteriosus, Recurrent pneumonia, Renal cyst, Bile duct prolife...	OMIM:613610
Neutral Lipid Storage Myopathy	Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle atrophy, Myop...	ORPHA:98908
Cowden Syndrome	Abnormal penis morphology, Endometrial carcinoma, Abnormality of the kidney, Enlarged polycystic ...	ORPHA:201
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Cryptorchidism, Miscarriage, Pulmonary hypoplasia	ORPHA:1865
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Recurrent respiratory infections, Hydroureter, Abnormality of the kidney, Abnormality of the uppe...	ORPHA:2273
Bartter Syndrome Type 4	Renal salt wasting, Increased urinary potassium, Impaired renal concentrating ability, Chronic ki...	ORPHA:89938
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Small scrotum, Recurrent pneumonia, Umbilical hernia, Hydronephrosis, Recurrent bronchitis	OMIM:620330
Simpson-Golabi-Behmel Syndrome, Type 1	Hypospadias, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Abnormal lung lobati...	OMIM:312870
Femoral-Facial Syndrome	Renal agenesis, Truncus arteriosus, Abnormal renal collecting system morphology, Cryptorchidism, ...	OMIM:134780
Cockayne Syndrome B	Ataxia, Abnormal peripheral myelination, Tremor, Optic atrophy, Ivory epiphyses of the phalanges ...	OMIM:133540
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Fetal intraventricular hemorrhage	OMIM:618480
Fontaine Progeroid Syndrome	Death in infancy, Prominent superficial veins, Small scrotum, Absent nipple, Cryptorchidism, Pate...	OMIM:612289
Purine Nucleoside Phosphorylase Deficiency	Cerebral palsy, Ataxia, Abnormal central motor function, Hypertonia, Spastic paraparesis, Spasticity	ORPHA:760
Meningioma	Papilledema, Hydrocephalus, Syncope, Cerebral hemorrhage	ORPHA:2495
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Renal insufficiency	OMIM:226980
Kyphoscoliotic Ehlers-Danlos Syndrome	Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Umbilical hernia, Bruising susceptibi...	ORPHA:536545
Multiple Pterygium Syndrome, Escobar Variant	Hypospadias, Cryptorchidism, Absence of labia majora, Pulmonary hypoplasia, Hypoplastic nipples, ...	OMIM:265000
Achondrogenesis Type 2	Pulmonary hypoplasia	ORPHA:93296
Monosomy 22Q13.3	Hydronephrosis, Vesicoureteral reflux, Umbilical hernia, Recurrent pyelonephritis, Renal dysplasia	ORPHA:48652
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Spina bifida occulta, Varicose veins, Nephroblas...	ORPHA:500095
Restrictive Dermopathy	Ureteral duplication, Hypospadias, Aplasia/Hypoplastia of the eccrine sweat glands, Large placent...	ORPHA:1662
Zygomycosis	Renal insufficiency, Atelectasis, Pneumothorax, Acute infectious pneumonia, Retinal arterial occl...	ORPHA:73263
Hereditary Sensory And Autonomic Neuropathy Type 5	Decreased number of small peripheral myelinated nerve fibers	ORPHA:64752
Pearson Syndrome	Hypoparathyroidism, Renal insufficiency, Proteinuria, Decreased response to growth hormone stimul...	ORPHA:699
Dpagt1-Cdg	Prolonged QT interval, Optic atrophy, Stroke-like episode, Intracranial hemorrhage, Diffuse optic...	ORPHA:86309
Agel Amyloidosis	Respiratory tract infection, Proteinuria, Stage 5 chronic kidney disease	ORPHA:85448
Hydranencephaly	Optic nerve hypoplasia, Abnormal internal carotid artery morphology, Dilatation of the ventricula...	ORPHA:2177
Generalized Pustular Psoriasis	Renal insufficiency	ORPHA:247353
Biotinidase Deficiency	Ataxia, Optic neuropathy, Optic atrophy, Spastic paraparesis, Limb muscle weakness	ORPHA:79241
Degcags Syndrome	Recurrent urinary tract infections, Hypospadias, Pneumonia, Bilateral renal dysplasia, Abnormal r...	OMIM:619488
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit...	ORPHA:2036
Johanson-Blizzard Syndrome	Hypospadias, Septate vagina, Urethrovaginal fistula, Vascular dilatation, Cryptorchidism, Rectova...	OMIM:243800
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Intracranial hemorrhage, Hypertension	ORPHA:90795
Oculodentodigital Dysplasia	Finger syndactyly, Toe syndactyly, Ataxia, Camptodactyly of finger, Short hallux, Aplasia/Hypopla...	ORPHA:2710
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hemolytic-uremic syndrome, Anuria, Acute kidney injury	OMIM:235400
Infection-Related Hemolytic Uremic Syndrome	Anuria, Pneumonia, Respiratory tract infection, Oliguria, Pleuritis, Pleural empyema, Acute kidne...	ORPHA:544482
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Toe syndactyly, Bilateral camptodactyly, Talipes equinovarus, Spastic paraparesis, Long hallux	OMIM:619234
Otopalatodigital Syndrome, Type Ii	Hypospadias, Spina bifida, Cryptorchidism, Stillbirth, Umbilical hernia, Dilatation of the sinus ...	OMIM:304120
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Cryptorchidism, Patent ductus arteriosus, Hydroureter	OMIM:610759
Polymyositis	Abnormal muscle fiber morphology	ORPHA:732
Mesomelia-Synostoses Syndrome	Short umbilical cord, Hydronephrosis	OMIM:600383
Poland Syndrome	Duplicated collecting system, Encephalocele, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidis...	ORPHA:2911
Blepharophimosis, Ptosis, And Epicanthus Inversus	Hypoplasia of the uterus, Increased circulating gonadotropin level	OMIM:110100
Osteogenesis Imperfecta	Aortic regurgitation, Cerebral hemorrhage, Hydrocephalus, Noncommunicating hydrocephalus, Aortic ...	ORPHA:666
Hereditary Fructose Intolerance	Renal insufficiency, Chronic kidney disease	ORPHA:469
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria	OMIM:268315
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter...	OMIM:232300
Cornelia De Lange Syndrome	Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidi...	ORPHA:199
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Absent gallbladder, Patent ductus arteriosus, Pulmonary artery stenosis, Tr...	OMIM:600001
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Recurrent respiratory infections, Renal insufficiency, Pulmonary artery dilatation, A...	OMIM:619534
Chromosome 1Q41-Q42 Deletion Syndrome	Cryptorchidism, Pulmonary hypoplasia, Supernumerary nipple	OMIM:612530
Ileal Neuroendocrine Tumor	Hydronephrosis	ORPHA:100078
Bartsocas-Papas Syndrome 1	Ectopic kidney, Bilateral cryptorchidism, Absent external genitalia, Hypoplastic labia majora, Bi...	OMIM:263650
Autoimmune Lymphoproliferative Syndrome	Renal insufficiency, Vasculitis, Glomerulonephritis, Pulmonary fibrosis	ORPHA:3261
Uremic Pruritus	Chronic kidney disease, Stage 5 chronic kidney disease	ORPHA:94059
Thanatophoric Dysplasia, Type I	Neonatal death, Pulmonary hypoplasia	OMIM:187600
Spondylospinal Thoracic Dysostosis	Pulmonary hypoplasia	OMIM:601809
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Cryptorchidism, Bicarbonaturia, Proximal renal tubular ac...	OMIM:309000
Mitochondrial Complex I Deficiency, Nuclear Type 29	Stage 5 chronic kidney disease, Lacticaciduria	OMIM:618250
Orofaciodigital Syndrome Type 4	Recurrent respiratory infections, Renal agenesis, Monorchism, Renal hypoplasia/aplasia, Perineal ...	ORPHA:2753
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Prominent superficial veins, Stage 5 chronic kidney disease	OMIM:608612
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Abnormal branching pattern of the aortic arch, A...	OMIM:619472
Say-Barber-Miller Syndrome	Babinski sign, Elbow flexion contracture, Optic atrophy, Patellar hypoplasia, Knee flexion contra...	ORPHA:3132
Vaginal Atresia	Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A...	ORPHA:65681
Acute Generalized Exanthematous Pustulosis	Renal insufficiency	ORPHA:293173
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Neu-Laxova Syndrome	External genital hypoplasia, Spina bifida, Hypogonadism, Pulmonary hypoplasia, Ambiguous genitali...	ORPHA:2671
Caroli Disease	Cholelithiasis, Polycystic kidney dysplasia	ORPHA:53035
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Mitral stenosis, Angina pectoris, Left ventricular systolic dysfunction, My...	ORPHA:740
Superficial Siderosis	Abnormal bleeding, Subarachnoid hemorrhage, Abnormal vertebral artery morphology, Arteriovenous m...	ORPHA:247245
Cerebrocostomandibular Syndrome	Patent ductus arteriosus, Horseshoe kidney, Renal cyst, Ectopic kidney	OMIM:117650
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Septate vagina, P...	ORPHA:261537
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Roberts-Sc Phocomelia Syndrome	Hypospadias, Enlarged labia minora, Cryptorchidism, Patent ductus arteriosus, Long penis, Frontal...	OMIM:268300
Waardenburg Syndrome	Myelomeningocele, Abnormal vagina morphology, Abnormality of the uterus	ORPHA:3440
Colchicine Poisoning	Renal insufficiency, Oliguria	ORPHA:31824
Lethal Congenital Contracture Syndrome Type 1	Pulmonary hypoplasia	ORPHA:1486
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Patent ductus arteriosus, Pulmonary artery stenosis, Pancreatic aplasia, Tr...	ORPHA:2255
Serotonin Syndrome	Acute kidney injury	ORPHA:43116
Nelson Syndrome	Intracranial hemorrhage, Hypertension, Optic nerve compression	ORPHA:199244
Early Infantile Epileptic Encephalopathy	Precocious puberty, Ureterocele, Umbilical hernia, Micropenis, Renal dysplasia	ORPHA:1934
Vascular Ehlers-Danlos Syndrome	Uterine rupture, Peripheral arteriovenous fistula, Hypospadias, Cryptorchidism, Varicose veins, A...	ORPHA:286
Spondylocarpotarsal Synostosis Syndrome	Renal cyst	OMIM:272460
Combined Oxidative Phosphorylation Deficiency 25	Intraventricular hemorrhage	OMIM:616430
Primary Sclerosing Cholangitis	Renal insufficiency, Dilated superficial abdominal veins, Neoplasm of the gallbladder, Cholelithi...	ORPHA:171
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Urogenital sinus anomaly, Chordee, G...	OMIM:618820
Listeriosis	Miscarriage, Pneumonia, Pyelonephritis, Stroke, Arteritis, Acute kidney injury	ORPHA:533
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Proteinuria, Nephrolithiasis, Stage 5 chronic kidney disease, Polycystic ovaries, Nephrocalcinosi...	ORPHA:79259
Osteopathia Striata With Cranial Sclerosis	Patent ductus arteriosus, Multicystic kidney dysplasia, Spina bifida occulta	OMIM:300373
Mowat-Wilson Syndrome	Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of th...	ORPHA:2152
Cranioectodermal Dysplasia 1	Recurrent respiratory infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chroni...	OMIM:218330
Wiedemann-Rautenstrauch Syndrome	Prominent scalp veins, Recurrent urinary tract infections, Hypospadias, Hypogonadotropic hypogona...	ORPHA:3455
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Vaginal dryness, Dysuria, Pneumonia, Renal tubular epithelial necrosis...	ORPHA:95455
Orofaciodigital Syndrome Type 3	Cherry red spot of the macula, Stage 5 chronic kidney disease	ORPHA:2752
Neuroleptic Malignant Syndrome	Proteinuria, Urinary incontinence, Aspiration pneumonia, Myoglobinuria, Acute kidney injury	ORPHA:94093
Craniofacial Microsomia 1	Occipital encephalocele, Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Patent duc...	OMIM:164210
Hurler Syndrome	Cerebral palsy, Camptodactyly of finger, Abnormal pyramidal sign, Macroglossia, Abnormal diaphysi...	ORPHA:93473
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Septate vagina, P...	ORPHA:261552
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Intraventricular hemorrhage, Prolonged prothrombin time	OMIM:619055
Hydatidiform Mole	Miscarriage, Enlarged uterus	ORPHA:99927
Multiple Pterygium Syndrome, X-Linked	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:312150
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Vesicoureteral reflux, Renal cortical cysts	OMIM:618548
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ambiguous genitalia, Pancreatic fibrosis, Pulmonary hypoplasia	OMIM:615503
Branchiooculofacial Syndrome	Renal agenesis, Hypospadias, Supernumerary nipple, Cryptorchidism, Renal cyst, Branchial anomaly,...	OMIM:113620
Sepsis In Premature Infants	Oliguria, Reversible renal failure	ORPHA:90051
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Congenital Diaphragmatic Hernia	Pulmonary hypoplasia	ORPHA:2140
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Stillbirth, Pulmonary hypoplasia	OMIM:151210
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch...	ORPHA:99050
Microcephaly-Micromelia Syndrome	Neonatal death, Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:251230
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Glomerulonephritis, Chronic kidney disease, Abnormality ...	ORPHA:79408
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Renal neoplasm, Thoracic aortic aneurysm, Repeated pneumothoraces, Atelectasis, Ascending tubular...	ORPHA:536467
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Chronic kidney disease, Hemoglobinuria, Renal ...	ORPHA:447
Caroli Syndrome	Abnormal ductus choledochus morphology, Abnormality of the kidney, Polycystic kidney dysplasia	ORPHA:480520
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly, Retinal dysplasia	OMIM:601374
Pericardial And Diaphragmatic Defect	Patent ductus arteriosus, Tetralogy of Fallot, Pulmonary hypoplasia, Pulmonary sequestration	ORPHA:2847
Lysinuric Protein Intolerance	Stage 5 chronic kidney disease, Intraalveolar phospholipid accumulation, Aminoaciduria, Hyperlysi...	OMIM:222700
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol...	ORPHA:572333
Multiple Pterygium Syndrome, Lethal Type	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:253290
Gaucher Disease, Perinatal Lethal	Neonatal death, Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:608013
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cyst of the ductus choledochus, Patent ductus arteriosus, Hydronephrosis, Hypoplastic nipples, Re...	ORPHA:480880
Hypomelia With Mullerian Duct Anomalies	Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
Peroxisome Biogenesis Disorder 4B	Ureterocele	OMIM:614863
Skin Creases, Congenital Symmetric Circumferential, 2	Cryptorchidism, Small scrotum, Hypospadias, Ureterocele	OMIM:616734
Acute Liver Failure	Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Intracranial hemorrhage, Prolonged prothro...	ORPHA:90062
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Atrial fibrillation, Thoracic aortic aneurysm, Subarachnoid hemorrhag...	OMIM:613795
Witteveen-Kolk Syndrome	Intracranial hemorrhage, Dysplastic corpus callosum, Branchial fistula	OMIM:613406
Kagami-Ogata Syndrome	Patent ductus arteriosus, Pulmonary hypoplasia	OMIM:608149
Familial Cerebral Cavernous Malformation	Venous malformation, Choroidal hemangioma, Retinal cavernous angioma, Cerebral hemorrhage	ORPHA:221061
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Dea...	OMIM:609049
Insensitivity To Pain, Congenital, With Anhidrosis	Decreased number of small peripheral myelinated nerve fibers, Autoamputation of digits	OMIM:256800
Scheie Syndrome	Cerebral palsy, Spastic paraparesis	ORPHA:93474
Costello Syndrome	Renal insufficiency, Pneumothorax, Lymphangiectasis	OMIM:218040
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:3035
Agnathia-Otocephaly Complex	Pulmonary hypoplasia	OMIM:202650
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal renal morphology, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:363700
Malignant Hyperthermia Of Anesthesia	Myoglobinuria, Acute kidney injury	ORPHA:423
Platyspondylic Dysplasia, Torrance Type	Pulmonary hypoplasia	ORPHA:85166
Scorpion Envenomation	Ketonuria, Stroke, Glycosuria, Acute kidney injury, Pulmonary edema	ORPHA:466677
Porphyria Cutanea Tarda	Increased urinary porphobilinogen, Stage 5 chronic kidney disease, Porphyrinuria	ORPHA:101330
Riddle Syndrome	Conjunctival telangiectasia, Intraventricular hemorrhage, Telangiectasia	ORPHA:420741
Tetrasomy 5P	Recurrent respiratory infections, Pulmonary hypoplasia	ORPHA:3309
Osteogenesis Imperfecta, Type Xvii	Intraventricular hemorrhage	OMIM:616507
Congenital Tracheomalacia	Pneumonia, Patent ductus arteriosus, Pneumothorax, Partial anomalous pulmonary venous return, Bro...	ORPHA:95430
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Decreased number of large peripheral myelinated nerve fibers, Incoordination	OMIM:223900
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:86822
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hemoglobinuria, Anuria, Acute kidney injury	ORPHA:90038
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Abnormal coronary artery morphology, Patent ductus arteriosus, ...	ORPHA:980
Classical Ehlers-Danlos Syndrome	Arterial dissection, Cervical insufficiency, Bladder diverticulum, Aortic root aneurysm, Dilatati...	ORPHA:287
Fetal Akinesia Deformation Sequence 1	Cryptorchidism, Stillbirth, Pulmonary hypoplasia, Short umbilical cord, Small placenta, Intrauter...	OMIM:208150
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the 5th finger, De...	ORPHA:364577
Argininemia	Progressive spastic quadriplegia, Frequent falls, Spastic gait, Spastic paraparesis	OMIM:207800
Achondrogenesis, Type Ia	Stillbirth, Pulmonary hypoplasia	OMIM:200600
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Breast hypoplasia, Bic...	OMIM:181450
Diaphragmatic Hernia 4, With Cardiovascular Defects	Aortopulmonary collateral arteries, Cryptorchidism, Aortopulmonary window, Aortic root aneurysm, ...	OMIM:620025
Marburg Hemorrhagic Fever	Orchitis, Renal insufficiency	ORPHA:99826
Spondylodysplastic Ehlers-Danlos Syndrome	Prominent scalp veins, Agenesis of pineal gland, Cryptorchidism, Ascending tubular aorta aneurysm...	ORPHA:536471
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Subdural hemorrhage	OMIM:619714
Greenberg Dysplasia	Large placenta, Abnormal lung lobation, Stillbirth, Pulmonary hypoplasia, Neonatal death	OMIM:215140
Yellow Fever	Renal insufficiency, Anuria, Acute kidney injury, Pancreatic hyperplasia	ORPHA:99829
Eisenmenger Syndrome	Renal insufficiency, Patent ductus arteriosus, Aortopulmonary window, Stroke, Tetralogy of Fallot	ORPHA:97214
Achondroplasia	Death in infancy, Pulmonary hypoplasia	OMIM:100800
Stuve-Wiedemann Syndrome 1	Death in infancy, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia	OMIM:601559
Semilobar Holoprosencephaly	Abnormal heart rate variability, Neural tube defect, Hydrocephalus, Agenesis of corpus callosum	ORPHA:220386
Alobar Holoprosencephaly	Abnormal heart rate variability, Neural tube defect, Hydrocephalus, Agenesis of corpus callosum	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Abnormal heart rate variability, Neural tube defect, Hydrocephalus, Agenesis of corpus callosum	ORPHA:93926
Lobar Holoprosencephaly	Abnormal heart rate variability, Neural tube defect, Hydrocephalus, Agenesis of corpus callosum	ORPHA:93924
Loeys-Dietz Syndrome	Aortic dissection, Arterial tortuosity, Patent ductus arteriosus, Uterine rupture, Arterial disse...	ORPHA:60030
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Miscarriage, External genital hypoplasia, Cryptorchidism, Large placenta, Pulmonary artery stenos...	ORPHA:96334
Leptospirosis	Cellular urinary casts, Pleural effusion, Acute kidney injury, Pulmonary hemorrhage	ORPHA:509
Pmm2-Cdg	Proteinuria, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, In...	ORPHA:79318
African Trypanosomiasis	Renal insufficiency, Miscarriage, Urinary incontinence, Myelopathy, Abnormal prolactin level	ORPHA:3385
Microphthalmia, Syndromic 1	Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Renal hypoplasia, Pulmonary h...	OMIM:309800
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus	ORPHA:1521
Congenital Myopathy 22B, Severe Fetal	Pleural effusion, Pulmonary hypoplasia	OMIM:620369
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Patent ductus arteriosus, Cerebral hemorrhage	OMIM:616682
Alström Syndrome	Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali...	ORPHA:64
Blau Syndrome	Clear cell renal cell carcinoma, Stage 5 chronic kidney disease, Large vessel vasculitis, Nephrop...	ORPHA:90340
Hereditary Sensory And Autonomic Neuropathy Type 4	Aplasia of the sweat glands, Chronic kidney disease, Recurrent aspiration pneumonia	ORPHA:642
Atelosteogenesis Type Ii	Pulmonary hypoplasia	ORPHA:56304
Microphthalmia, Syndromic 2	Broad hallux, Sandal gap, 2-3 toe cutaneous syndactyly, Flexion contracture, 2-3 toe syndactyly, ...	OMIM:300166
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Exercise-Induced Malignant Hyperthermia	Acute kidney injury, Oliguria	ORPHA:466650
Blomstrand Lethal Chondrodysplasia	Pulmonary hypoplasia, Coarctation of aorta	ORPHA:50945
Congenital Total Pulmonary Venous Return Anomaly	Recurrent respiratory infections, Pulmonary artery stenosis, Patent ductus arteriosus, Hypoplasti...	ORPHA:99125
Norrie Disease	Venous insufficiency, Cryptorchidism, Uterine rupture	ORPHA:649

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Lamc1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Lamc1.

No publications found that use IMPC mice or data for Lamc1.

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MGI Allele	Allele Type	Produced
Lamc1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Lamc1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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