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Gene: Dis3l2 MGI:2442555

Gene Summary

Name:

DIS3 like 3'-5' exoribonuclease 2

Synonyms:

4930429A22Rik, 8030493P09Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal tail morphology	Dis3l2^em1(IMPC)Bay	HOM	E18.5	0.00
hemorrhage	Dis3l2^em1(IMPC)Bay	HOM	E18.5	0.00
preweaning lethality, complete penetrance	Dis3l2^em1(IMPC)Bay	HOM	Early adult	0.00
abnormal embryo size	Dis3l2^em1(IMPC)Bay	HOM	E18.5	0.00
increased body length	Dis3l2^em1(IMPC)Bay	HET	Early adult	3.92×10^-06

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

VIP of right eye

17 Images

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Eye Morphology

VIP of right fundus

17 Images

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Eye Morphology

VIP of left fundus

17 Images

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MicroCT E18.5

Embryo reconstruction

7 Images

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Eye Morphology

VIP of left eye

17 Images

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Human diseases caused by Dis3l2 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 Dis3l2 (3 diseases)
Human diseases predicted to be associated with Dis3l2 (735 diseases)

The table below shows human diseases associated to Dis3l2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Perlman Syndrome	Tall stature	ORPHA:2849
Perlman Syndrome	Nephroblastomatosis, Renal hamartoma, Nephroblastoma, Nephrogenic rest	OMIM:267000
Nephroblastoma	Hematuria, Nephroblastoma	ORPHA:654

The table below shows human diseases predicted to be associated to Dis3l2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ...	ORPHA:2838
Urofacial Syndrome 2	Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro...	OMIM:615112
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydroureter, Myoclonus, Death in infancy, Hydronephrosis, Hypertonia, Respiratory failure	OMIM:618240
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi...	ORPHA:617
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio...	OMIM:143400
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Hydronephrosis, Duplicated collecting system	OMIM:163850
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Rigidity, Parkinsonism, Bradykinesia, Urinary urgency	OMIM:605909
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome	Bradykinesia, Lower limb spasticity, Urinary urgency	OMIM:618878
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness	Hydronephrosis, Hydroureter	OMIM:264140
Urofacial Syndrome 1	Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v...	OMIM:236730
Parkinsonism With Spasticity, X-Linked	Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia	OMIM:300911
Autosomal Dominant Spastic Paraplegia Type 3	Ankle clonus, Rigidity, Babinski sign, Lower limb spasticity, Spastic gait, Bradykinesia, Frequen...	ORPHA:100984
Atresia Of Urethra	Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency...	ORPHA:105
Spastic Paraplegia 80, Autosomal Dominant	Spastic paraplegia, Limb ataxia, Babinski sign, Lower limb spasticity, Bradykinesia, Urinary urge...	OMIM:618418
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe...	OMIM:260300
Vesicoureteral Reflux 3	Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico...	OMIM:613674
Dystonia, Dopa-Responsive	Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Babi...	OMIM:128230
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:607688
Basal Ganglia Calcification, Idiopathic, 1	Chorea, Limb dysmetria, Tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Urinary incontin...	OMIM:213600
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity	OMIM:610297
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Chorea, Death in childhood, Lethargy, Ataxia, Bradykinesia	OMIM:618683
Hemiparkinsonism-Hemiatrophy Syndrome	Neonatal asphyxia, Tremor, Hemiparesis, Parkinsonism, Bradykinesia, Scoliosis	ORPHA:306669
Spastic Paraplegia 78, Autosomal Recessive	Spastic paraplegia, Resting tremor, Urinary urgency, Gait ataxia, Babinski sign, Parkinsonism, Ab...	OMIM:617225
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr...	OMIM:617805
Parkinson Disease 5, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity	OMIM:613643
Renal Dysplasia	Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Death in adolescence, Scoliosis, Respiratory failure, Respiratory insufficiency due to muscle wea...	OMIM:300717
Tremor, Hereditary Essential, 5	Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor	OMIM:616736
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Tremor, Ankle clonus, Babinski sign, Scissor gait, Parkinsonism, Bradykinesia, Scoliosis	ORPHA:521406
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Recurrent urinary tract infections, Fetal pyelectasis, Megacystis, Nephrolithiasis	OMIM:619365
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Bradykinesia, Gait ataxia, Abnormal pyramidal sign, Tremor by anatomi...	ORPHA:101110
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis	OMIM:249210
Dystonia 16	Postural tremor, Parkinsonism, Abnormal pyramidal sign, Torticollis, Bradykinesia	ORPHA:210571
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydronephrosis, Hydroureter, Megacystis	OMIM:619431
Spinocerebellar Ataxia Type 12	Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida...	ORPHA:98762
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Bilateral renal agenesis	OMIM:619887
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydronephrosis, Fetal megacystis, Hydroureter, Neonatal death	OMIM:619362
Spinocerebellar Ataxia 17	Chorea, Limb ataxia, Myoclonus, Gait ataxia, Dysmetria, Rigidity, Parkinsonism, Apraxia, Ataxia, ...	OMIM:607136
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Respiratory insufficiency, Death in infancy, Rigidity, Hypertonia, Respiratory failure	OMIM:613869
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:620482
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Ureteral dysgenesis, Renal agenesis	OMIM:274265
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia	OMIM:183050
Striatal Degeneration, Autosomal Dominant 1	Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech	OMIM:609161
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Tongue fasciculations, Tetraparesis, Lumbar hyperlordosis, Ankle clonus, Hemiparesis, Respiratory...	OMIM:600561
Spinal Muscular Atrophy, Type I	Tongue fasciculations, Respiratory failure, Death in childhood, Respiratory insufficiency	OMIM:253300
Mitochondrial Membrane Protein-Associated Neurodegeneration	Spasticity, Spastic paraparesis, Hand tremor, Respiratory insufficiency, Rigidity, Babinski sign,...	ORPHA:289560
Prune Belly Syndrome	Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Abnormality of the...	ORPHA:2970
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi...	ORPHA:240103
Pontocerebellar Hypoplasia, Type 1C	Tongue fasciculations, Respiratory insufficiency, Death in childhood, Spastic tetraparesis, Respi...	OMIM:616081
Ring Chromosome 8 Syndrome	Hydronephrosis, Abnormality of the ureter	ORPHA:1450
Spinocerebellar Ataxia 10	Incoordination, Limb fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyr...	OMIM:603516
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Unilateral renal agenesis, Bilateral renal agenesis, Death in infancy, Vertebral segmentation def...	OMIM:618845
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Death in infancy, Respiratory failure, Hypertonia, Respiratory insufficiency	OMIM:611722
Autosomal Dominant Striatal Neurodegeneration	Bradykinesia, Dysdiadochokinesis, Rigidity	ORPHA:228169
Delayed Encephalopathy Due To Carbon Monoxide Poisoning	Bradykinesia, Rigidity	ORPHA:306686
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsonism with favorable response...	ORPHA:314632
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Abnormality of the upper urinary tract, Hypoplasia of penis, Abnormality of the bladder, Hydroureter	ORPHA:2547
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Respiratory insufficiency,...	ORPHA:2973
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Spasticity, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apraxia, Bradykinesia, Slurred ...	OMIM:300423
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Spastic gait, Bradykinesia, Abnormal pyramidal sign, Spastic tetraparesis	OMIM:619052
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Babinski sign, Bradykinesia, Lacticaciduria	OMIM:619063
Parkinson Disease 19A, Juvenile-Onset	Spasticity, Pill-rolling tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Limb hypertonia...	OMIM:615528
Leber Optic Atrophy And Dystonia	Spasticity, Upper motor neuron dysfunction, Bradykinesia, Athetosis, Scoliosis	OMIM:500001
Parkinsonism With Polyneuropathy	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:619279
Hereditary Butyrylcholinesterase Deficiency	Paralysis, Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:132
Parkinson Disease 22, Autosomal Dominant	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:616710
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Limb ataxia, Rigidity, Babinski sign, Parkinsonism, Hypertonia, Bradykinesia	OMIM:618824
Wolfram Syndrome, Mitochondrial Form	Hydronephrosis, Hydroureter	OMIM:598500
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Vesicoureteral reflux, Hydroureter, Nephrolithiasis	OMIM:617219
Spinocerebellar Ataxia 2	Spasticity, Fasciculations, Urinary bladder sphincter dysfunction, Postural tremor, Limb ataxia, ...	OMIM:183090
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Hydronephrosis, Abnormality of the urinary system	ORPHA:2669
Vacterl Association With Hydrocephalus	Abnormal vertebral morphology, Renal hypoplasia, Respiratory insufficiency, Stillbirth, Respirato...	OMIM:276950
Cyanide-Induced Parkinsonism-Dystonia	Parkinsonism, Bradykinesia, Resting tremor, Rigidity	ORPHA:306692
Brain-Lung-Thyroid Syndrome	Involuntary movements, Neonatal respiratory distress, Megacystis, Incoordination, Chorea, Myoclon...	ORPHA:209905
Dystonia 12	Tremor, Parkinsonism, Torticollis, Bradykinesia	OMIM:128235
Lower Limb Malformation-Hypospadias Syndrome	Abnormality of the ureter, Hypospadias, Respiratory insufficiency	ORPHA:2487
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Chorea, Dysmetria, Parkinsonism, Abnormal pyramidal sign, Ataxia, Bradykinesia, Slurred speech	OMIM:618317
Autosomal Recessive Dopa-Responsive Dystonia	Postural tremor, Myoclonus, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function, ...	ORPHA:101150
Lopes-Maciel-Rodan Syndrome	Spasticity, Tremor, Ankle clonus, Abnormal pyramidal sign, Hypertonia, Bradykinesia, Scoliosis, K...	OMIM:617435
Amyotrophic Lateral Sclerosis 28	Babinski sign, Chaddock reflex, Respiratory failure, Fasciculations	OMIM:620452
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Limb myoclonus, Myoclonus, Tremor, Clumsiness, Respiratory insufficiency due to muscle weakness, ...	ORPHA:2590
Adrenomyodystrophy	Abnormality of the urinary system, Megacystis	ORPHA:977
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Death in infancy, Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Gait ataxia, Parkinsonism, Torticollis, Bradykinesia	ORPHA:71517
Bladder Exstrophy And Epispadias Complex	Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias	OMIM:600057
Caribbean Parkinsonism	Myoclonus, Action tremor, Rigidity, Progressive gait ataxia, Parkinsonism, Apraxia, Weakness due ...	ORPHA:97355
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E...	ORPHA:84085
Huntington Disease	Chorea, Gait ataxia, Bradykinesia, Rigidity	OMIM:143100
Parkinson Disease 17	Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:614203
Macdermot-Winter Syndrome	Hydronephrosis, Death in infancy	OMIM:247990
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi...	OMIM:615157
Pontocerebellar Hypoplasia, Type 4	Spasticity, Myoclonus, Death in infancy, Hypertonia, Respiratory failure	OMIM:225753
Neuromyelitis Optica Spectrum Disorder	Paraplegia, Functional abnormality of the bladder, Respiratory failure	ORPHA:71211
Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax...	ORPHA:454887
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Head titubatio...	OMIM:618877
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormality of the urinary system, Limb fasciculations, Tremor, Respiratory failure, Respiratory ...	ORPHA:90117
Cerebellar Ataxia, Cayman Type	Gait ataxia, Ataxia, Truncal ataxia, Bradykinesia, Intention tremor	OMIM:601238
Infantile Dystonia-Parkinsonism	Cerebral palsy, Chorea, Parkinsonism, Abnormal pyramidal sign, Limb hypertonia, Hypertonia, Brady...	ORPHA:238455
Humero-Radio-Ulnar Synostosis	Abnormality of the ureter, Abnormality of the upper urinary tract	ORPHA:3266
Prune Belly Syndrome	Hydronephrosis, Hydroureter, Congenital posterior urethral valve	OMIM:100100
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Episodic ataxia, Incoordination, Gait ataxia, Dysmetria, Hemiparesis, Ataxia, Truncal ataxia, Bra...	OMIM:601338
Spinocerebellar Ataxia, Autosomal Recessive 32	Limb myoclonus, Postural tremor, Limb ataxia, Gait ataxia, Torticollis, Bradykinesia	OMIM:619862
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Facial paralysis, Alpha-amino...	OMIM:605711
Intellectual Developmental Disorder, X-Linked 110	Bradykinesia	OMIM:301095
Machado-Joseph Disease	Spasticity, Facial-lingual fasciculations, Fasciculations, Urinary bladder sphincter dysfunction,...	OMIM:109150
Arthrogryposis Multiplex Congenita 6	Death in childhood, Death in infancy, Neonatal death, Hypospadias, Respiratory failure	OMIM:619334
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
X-Linked Parkinsonism-Spasticity Syndrome	Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ...	ORPHA:363654
Autosomal Recessive Spastic Paraplegia Type 77	Detrusor sphincter dyssynergia, Progressive spastic paraplegia, Myoclonus, Kyphoscoliosis, Babins...	ORPHA:466722
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Atypical Juvenile Parkinsonism	Involuntary movements, Resting tremor, Myoclonus, Gait ataxia, Rigidity, Abnormal pyramidal sign,...	ORPHA:391411
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Bradykinesia, Tremor, Rigidity	OMIM:617836
Familial Visceral Myopathy	Vesicoureteral reflux, Hydroureter, Megacystis	ORPHA:2604
Parkinson Disease 7, Autosomal Recessive Early-Onset	Blepharospasm, Resting tremor, Postural tremor, Rigidity, Parkinsonism with favorable response to...	OMIM:606324
Juvenile Huntington Disease	Chorea, Myoclonus, Gait ataxia, Rigidity, Ataxia, Bradykinesia, Progressive cerebellar ataxia	ORPHA:248111
Combined Oxidative Phosphorylation Deficiency 11	Tongue fasciculations, Renal hypoplasia, Myoclonus, Renal insufficiency, Renal tubular acidosis, ...	OMIM:614922
Beta-Propeller Protein-Associated Neurodegeneration	Spastic paraparesis, Tremor, Rigidity, Parkinsonism, Bradykinesia	ORPHA:329284
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Kyphoscoliosis...	ORPHA:99750
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	Bradykinesia, Limb hypertonia, Hypertonia, Parkinsonism	OMIM:617384
Wolfram Syndrome 1	Hydroureter, Tremor, Hydronephrosis, Neurogenic bladder, Ataxia	OMIM:222300
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity	ORPHA:240085
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic paraplegia, Spastic tetraplegia, Resting tremor, Tremor, Kyphoscoliosis, Babinski sign, P...	OMIM:300055
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Renal insufficiency, Death in infancy, Lethargy, Lacticaciduria, Respiratory failure	OMIM:619386
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Postural tremor, Gait ataxia, Action tremor, Dysmetria, Intention tremor, Parkins...	OMIM:300623
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polyuria, Megacystis	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polyuria, Megacystis	OMIM:304800
Huntington Disease-Like 2	Bradykinesia, Chorea, Action tremor, Rigidity	OMIM:606438
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron...	OMIM:191800
Congenital Myopathy 19	Respiratory insufficiency, Renal atrophy, Hydronephrosis, Respiratory insufficiency due to muscle...	OMIM:618578
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Spasticity, Rigidity, Apraxia, Parkinsonism, Bradykinesia	OMIM:221820
Cloacal Exstrophy	Hydroureter, Ureterocele, Horseshoe kidney, Vesicoureteral reflux, Ureteropelvic junction obstruc...	ORPHA:93929
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure, Tremor, Ataxia	OMIM:618637
Hyperphenylalaninemia, Bh4-Deficient, A	Tremor, Rigidity, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, Choreoathetosis	OMIM:261640
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level, Spasticity, Respiratory failure, Death ...	OMIM:616277
Hyperekplexia 4	Myoclonus, Respiratory failure, Hypertonia, Kyphoscoliosis	OMIM:618011
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Kyphosis, Respiratory insufficiency, Thoracolumbar scoliosis, Respiratory failure	OMIM:313420
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Nephrocalcinosis, Hydroureter, Ureteral stenosis, Ankle clonus, Babinski sign, Renal cyst, Hyperc...	OMIM:615398
Congenital Myopathy 10A, Severe Variant	Tongue fasciculations, Respiratory insufficiency, Diaphragmatic paralysis, Scoliosis, Respiratory...	OMIM:614399
Congenital Muscular Dystrophy With Intellectual Disability	Respiratory insufficiency, Poor gross motor coordination, Micropenis, Scoliosis, Respiratory failure	ORPHA:370968
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Respiratory insufficiency, Stage 5 chronic kidney disea...	OMIM:602088
Codas Syndrome	Scoliosis, Coronal cleft vertebrae, Hydroureter, Abnormal form of the vertebral bodies	ORPHA:1458
Spinocerebellar Ataxia Type 13	Limb ataxia, Myoclonus, Gait ataxia, Clumsiness, Torticollis, Urinary incontinence, Bradykinesia,...	ORPHA:98768
Hepatic Veno-Occlusive Disease	Renal insufficiency, Respiratory failure	ORPHA:890
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Respiratory failure requiri...	OMIM:619351
Congenital Arthrogryposis With Anterior Horn Cell Disease	Kyphosis, Neonatal death, Respiratory insufficiency due to muscle weakness, Scoliosis, Respirator...	OMIM:611890
Ureter, Bifid Or Double	Ureteral duplication	OMIM:191550
Neurodegeneration With Brain Iron Accumulation 6	Bradykinesia, Spastic paraparesis, Spastic tetraplegia, Rigidity	OMIM:615643
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ...	OMIM:614723
Megabladder, Congenital	Fetal megacystis, Stage 5 chronic kidney disease, Multiple glomerular cysts, Hyperechogenic kidneys	OMIM:618719
Parkinsonism-Dystonia 1, Infantile-Onset	Chorea, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movements, Parkinsonism, Abnormal pyram...	OMIM:613135
Alg1-Cdg	Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Respiratory failure, Scoliosi...	ORPHA:79327
Ureterocele	Duplicated collecting system, Ureterocele	OMIM:191650
Spinocerebellar Ataxia Type 1	Progressive cerebellar ataxia, Fasciculations, Chorea, Postural tremor, Dysmetria, Bradykinesia, ...	ORPHA:98755
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsonism, Parapar...	OMIM:606693
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Bradykinesia, Slowed slurred speech, Nephrolithiasis	OMIM:619827
Caudal Duplication Anomaly	Ureteral duplication	OMIM:607864
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Progressive extrapyramidal muscular rigidity, Hemiplegia, Chorea, Gait ataxia, Ba...	ORPHA:225147
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Myoclonus, Respiratory failure, Rigidity	OMIM:619057
Dystonia 16	Involuntary movements, Postural tremor, Retrocollis, Parkinsonism, Abnormal pyramidal sign, Brady...	OMIM:612067
Ceroid Lipofuscinosis, Neuronal, 10	Spasticity, Respiratory insufficiency, Neonatal death, Rigidity, Ataxia, Respiratory failure	OMIM:610127
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Respiratory insufficiency	OMIM:618328
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Abnormality of extrapyramidal ...	ORPHA:13
Huntington Disease-Like 1	Involuntary movements, Incoordination, Chorea, Gait ataxia, Simultanapraxia, Dysmetria, Clumsines...	ORPHA:157941
X-Linked Intellectual Disability, Schimke Type	Hydronephrosis, Spasticity, Vesicoureteral reflux, Choreoathetosis	ORPHA:85285
Microphthalmia, Lenz Type	Hypospadias, Hydroureter, Renal hypoplasia/aplasia, Hydronephrosis, Hyperlordosis, Scoliosis, Kyp...	ORPHA:568
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Tremor, Hydronephrosis, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Spin...	OMIM:618060
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Parkinsonism, Bradykinesia	ORPHA:412066
Visceral Myopathy 1	Hydronephrosis, Vesicoureteral reflux, Urinary retention, Megacystis	OMIM:155310
Caudal Duplication	Abnormal penis morphology, Bifid sacrum, Renal hypoplasia/aplasia, Vertebral segmentation defect,...	ORPHA:1756
Nemaline Myopathy 8	Respiratory failure, Death in infancy	OMIM:615348
Inherited Creutzfeldt-Jakob Disease	Progressive extrapyramidal muscular rigidity, Chorea, Spastic hemiparesis, Myoclonus, Gait ataxia...	ORPHA:282166
Fanconi Anemia, Complementation Group O	Stage 5 chronic kidney disease, Death in infancy, Neonatal death, Hydronephrosis, Renal cyst, Mis...	OMIM:613390
Spinocerebellar Ataxia Type 8	Spasticity, Limb ataxia, Gait ataxia, Rigidity, Ataxia, Urinary incontinence, Bradykinesia, Spast...	ORPHA:98760
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Parkinsonism, Ataxia, Bradykinesia, Intenti...	OMIM:619725
Parkinsonian-Pyramidal Syndrome	Spasticity, Myoclonus, Rigidity, Babinski sign, Parkinsonism, Abnormal pyramidal sign, Neurogenic...	ORPHA:171695
Multiple System Atrophy	Resting tremor, Postural tremor, Gait ataxia, Rigidity, Parkinsonism, Abnormal pyramidal sign, Br...	ORPHA:102
Childhood-Onset Nemaline Myopathy	Clumsiness, Bradykinesia, Scoliosis, Respiratory insufficiency due to muscle weakness	ORPHA:171439
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Rigidity, Clumsiness, Parkinsonism, Bradykinesia	OMIM:619911
Ochoa Syndrome	Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie...	ORPHA:2704
Perry Syndrome	Respiratory insufficiency, Tremor, Rigidity, Respiratory arrest, Parkinsonism, Bradykinesia	OMIM:168605
Primary Progressive Freezing Gait	Postural tremor, Rigidity, Babinski sign, Clonus, Urinary incontinence, Bradykinesia, Frequent falls	ORPHA:75567
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Neonatal respiratory distress, Methylmalonic aciduria, Respiratory insufficiency, Death in childh...	OMIM:245400
Parkinson Disease, Late-Onset	Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia, Urinary urgency	OMIM:168600
3-Methylglutaconic Aciduria Type 7	Spasticity, Nephrocalcinosis, Myoclonus, Renal insufficiency, 3-Methylglutaconic aciduria, Abnorm...	ORPHA:445038
Nephrogenic Diabetes Insipidus	Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insufficiency, Hypos...	ORPHA:223
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep...	OMIM:613496
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Adult-Onset Nemaline Myopathy	Bradykinesia, Respiratory insufficiency due to muscle weakness	ORPHA:171442
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Chorea, Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradyki...	OMIM:606159
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Tremor, Rigidity, Limb hypertonia, Bradykinesia	ORPHA:70594
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Eyelid ...	OMIM:612953
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Tremor, Ataxia, Bradykinesia, Poor fine motor coordination	ORPHA:36387
Visceral Myopathy 2	Megacystis	OMIM:619350
Czeizel-Losonci Syndrome	Abnormality of the urinary system, Ureteral agenesis, Hydronephrosis, Thoracolumbar scoliosis, Sp...	ORPHA:2437
X-Linked Dystonia-Parkinsonism	Blepharospasm, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand tremor, Chorea,...	ORPHA:53351
Hypermanganesemia With Dystonia 2	Spasticity, Tremor, Ankle clonus, Opisthotonus, Babinski sign, Parkinsonism, Clumsiness, Scissor ...	OMIM:617013
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Parkinsonism, Bradykinesia, Resting tremor, Rigidity	OMIM:614251
Parkinson Disease 21	Parkinsonism, Bradykinesia, Tremor, Rigidity	OMIM:616361
Hereditary Motor And Sensory Neuropathy, Type Iic	Vocal cord paresis, Intercostal muscle weakness, Urinary incontinence, Respiratory failure, Scoli...	OMIM:606071
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Limb ataxia, Gait ataxia, Rigidity, Babinski sign, Parkinsonism, Respiratory insufficiency due to...	OMIM:258450
Dravet Syndrome	Incoordination, Cogwheel rigidity, Action tremor, Myoclonus, Rigidity, Progressive gait ataxia, P...	ORPHA:33069
Multiple System Atrophy, Parkinsonian Type	Resting tremor, Postural tremor, Gait ataxia, Rigidity, Parkinsonism, Abnormal pyramidal sign, Br...	ORPHA:98933
Hypouricemia, Renal, 1	Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper...	OMIM:220150
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Duplicated collecting system, Hydroureter, Ureterocele, Megacystis, Renal agenesis, Vesicouretera...	OMIM:604292
Autosomal Recessive Progressive External Ophthalmoplegia	Cogwheel rigidity, Action tremor, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:254886
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Respiratory failure, Respiratory insufficiency	ORPHA:266
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue fasciculations, Respiratory failure, Fasciculations	OMIM:613435
Multiple System Atrophy, Cerebellar Type	Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, Rigidity, Parkinsonism, Abnormal pyram...	ORPHA:227510
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi...	OMIM:607060
Noonan Syndrome 9	Hydroureter	OMIM:616559
Huntington Disease	Involuntary movements, Chorea, Myoclonus, Rigidity, Babinski sign, Clumsiness, Clonus, Bradykines...	ORPHA:399
Multiple System Atrophy 1, Susceptibility To	Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Urinary incontinence, Bradykinesia, Urinar...	OMIM:146500
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Myoclonus, Gait ataxia, Dysmetria, Tremor, Babinski sign, Hypertonia, Ataxia, Respiratory failure...	OMIM:616505
Waisman Syndrome	Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favorable response t...	OMIM:311510
Postencephalitic Parkinsonism	Involuntary movements, Kyphosis, Resting tremor, Cogwheel rigidity, Rigidity, Babinski sign, Abno...	ORPHA:97349
Gerstmann-Straussler Disease	Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Apraxia, Truncal...	OMIM:137440
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Spasticity, Cerebral palsy, Myoclonus, Death in childhood, Opisthotonus, Babinski sign, Clonus, H...	OMIM:619847
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Ventilator dependenc...	ORPHA:254875
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory failure, Kyphosis, Respiratory insufficiency due to muscle weakness, Nephrolithiasis	ORPHA:352447
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Spasticity, Fasciculations, Tetraparesis, Ankle clonus, Babinski sign, Lower limb spasticity, Res...	OMIM:613954
Intellectual Developmental Disorder, Autosomal Dominant 56	Spasticity, Myoclonus, Clumsiness, Paraparesis, Lower limb spasticity, Ataxia, Bradykinesia, Orom...	OMIM:617854
Marden-Walker Syndrome	Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro...	ORPHA:2461
Parkinson Disease 2, Autosomal Recessive Juvenile	Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ataxia, Tremor, Rig...	OMIM:600116
Interstitial Pneumonitis, Desquamative, Familial	Tubulointerstitial fibrosis, Respiratory failure	OMIM:263000
Hypermanganesemia With Dystonia 1	Spastic paraparesis, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism...	OMIM:613280
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Fasciculations, Tremor, Hydronephrosis, Limb hypertonia, Exaggerated startle response, Respirator...	OMIM:620327
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Myoclonus, Rigidity, Parkinsonism, Bradykinesia, Urinary urgency	OMIM:168601
Autosomal Dominant Dopa-Responsive Dystonia	Postural tremor, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function, Babinski si...	ORPHA:98808
Immunodeficiency 95	Respiratory failure	OMIM:619773
Cat-Eye Syndrome	Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:195
Image Syndrome	Hydronephrosis, Hypospadias	ORPHA:85173
Mandibulofacial Dysostosis With Alopecia	Hydroureter	OMIM:616367
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Hydroureter, Urinary retention, Ureterocele, Recurrent urinary trac...	ORPHA:79404
Congenital Myopathy 14	Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness	OMIM:618414
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Spasticity, Respiratory insufficiency, Myoclonus, Death in infancy, Abnormality of extrapyramidal...	OMIM:614299
Caudal Regression Syndrome	Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Hypoplasti...	ORPHA:3027
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Ureteral agenesis, Neonatal death, Renal cyst, Stillbirth, Renal dysplasia	OMIM:236500
Ullrich Congenital Muscular Dystrophy	Kyphosis, Frequent falls, Torticollis, Scoliosis, Respiratory failure	ORPHA:75840
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Neonatal respiratory distress, Ureteroce...	ORPHA:1851
Lethal Congenital Contracture Syndrome 2	Hydronephrosis, Respiratory failure	OMIM:607598
Joubert Syndrome 35	Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydronephrosis,...	OMIM:618161
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Respiratory insufficiency, Abnormality of the ureter, Renal hypoplasia/aplasia, Hypoplasia of pen...	ORPHA:1046
Carpenter Syndrome 1	Hydronephrosis, Spina bifida occulta, Scoliosis, Hydroureter	OMIM:201000
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:300894
Pyruvate Dehydrogenase E1-Alpha Deficiency	Episodic ataxia, Myoclonus, Tremor, Lethargy, Respiratory failure, Choreoathetosis	OMIM:312170
Peroxisome Biogenesis Disorder 4A (Zellweger)	Renal cyst, Respiratory failure, Death in infancy	OMIM:614862
Oeis Complex	Duplicated collecting system, Hydroureter, Vesicovaginal fistula, Renal agenesis, Hydronephrosis,...	OMIM:258040
Severe Neurodegenerative Syndrome With Lipodystrophy	Poor motor coordination, Spasticity, Tetraparesis, Myoclonus, Gait ataxia, Tremor, Abnormal pyram...	ORPHA:363400
Multiple Mitochondrial Dysfunctions Syndrome 3	Beta-aminoisobutyric aciduria, Respiratory failure, Spastic tetraplegia, Respiratory insufficiency	OMIM:615330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Frequent falls, Hyperlordosis, Vertebral fusion, Respiratory failure, Scoliosis, Kyphosis	OMIM:606612
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hydronephrosis, Scoliosis, Kyphosis	OMIM:619797
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Hydroureter, Crossed fused renal ectopia, Vesicoureteral reflux, Hydro...	OMIM:300707
Fragile X-Associated Tremor/Ataxia Syndrome	Urinary bladder sphincter dysfunction, Gait ataxia, Dysmetria, Rigidity, Parkinsonism, Ataxia, Br...	ORPHA:93256
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Homocystinuria, Spasticity, Methylmalonic aciduria, Lethargy, Poor coordination, Respiratory failure	OMIM:250940
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Progressive extrapyramidal muscular rigidity, Tremor, Parkinsonism, Abnormal pyram...	ORPHA:240071
Pallister-Hall Syndrome	Renal hypoplasia, Hydroureter, Distal urethral duplication, Neonatal death, Hydronephrosis, Renal...	OMIM:146510
8P23.1 Duplication Syndrome	Hydronephrosis	ORPHA:251076
Lethal Osteosclerotic Bone Dysplasia	Respiratory failure	ORPHA:1832
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, 3-Methylglutaconic aciduria, Abnormality of the kidney, Hypospadias, Respirator...	ORPHA:1194
Ventriculomegaly With Defects Of The Radius And Kidney	Horseshoe kidney, Ureteral duplication, Ectopic kidney, Renal agenesis	OMIM:602200
Penile Agenesis	Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H...	ORPHA:49
Frontometaphyseal Dysplasia 1	Hydroureter, Hydronephrosis, Cervical C2/C3 vertebral fusion, Scoliosis, Fused cervical vertebrae	OMIM:305620
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydronephrosis, Abnormality of the upper urinary tract, Scoliosis, Hydroureter	ORPHA:2995
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hydronephrosis, Apraxia, Scoliosis	OMIM:620141
Hereditary Late-Onset Parkinson Disease	Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi...	ORPHA:411602
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Death in childhood, Prot...	OMIM:220110
Diabetic Embryopathy	Renal hypoplasia/aplasia, Hydronephrosis, Vertebral segmentation defect, Micropenis, Ureteral dup...	ORPHA:1926
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Diaphragmatic paralysis, Urinary incontinence, Ventilator dependence with inability to wean, Resp...	OMIM:604320
Junctional Epidermolysis Bullosa With Pyloric Atresia	Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Renal duplication, Hematuria, ...	ORPHA:79403
Bardet-Biedl Syndrome 19	Hydronephrosis, Renal hypoplasia, Renal insufficiency	OMIM:615996
Trisomy 1Q	Congenital megaureter, Multicystic kidney dysplasia, Hydronephrosis	ORPHA:261344
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Neonatal respiratory distress, Renal dysplasia, Respiratory insufficiency, Renal insufficiency, D...	OMIM:608836
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Spasticity, Death in childhood, Babinski sign, Lethargy, Ataxia, Spastic tetraparesis, Respirator...	OMIM:615838
Manganese Poisoning	Postural tremor, Cogwheel rigidity, Abnormality of extrapyramidal motor function, Hypertonia, Bra...	ORPHA:306682
Mckusick-Kaufman Syndrome	Hydronephrosis, Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula	OMIM:236700
Combined Oxidative Phosphorylation Deficiency 4	Opisthotonus, Spasticity, Respiratory failure, Death in infancy	OMIM:610678
Cockayne Syndrome Type 3	Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Kyphosis, Renal insu...	ORPHA:90324
Axial Mesodermal Dysplasia Spectrum	Abnormality of the urinary system, Abnormal form of the vertebral bodies, Abnormality of the uret...	ORPHA:1834
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Bladder diverticulum, Scoliosis, Hyperlordosis	OMIM:617821
Snakebite Envenomation	Acute kidney injury, Pseudobulbar paralysis, Respiratory paralysis, Paralysis, Respiratory failure	ORPHA:449285
Pontocerebellar Hypoplasia Type 1	Tongue fasciculations, Spasticity, Respiratory failure, Ataxia	ORPHA:2254
Leigh Syndrome, Nuclear	Respiratory insufficiency, Spasticity, Respiratory failure, Ataxia	OMIM:256000
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Hyperechogenic kidneys, Respiratory insufficiency, Proteinuria, Polyuria,...	OMIM:613845
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Spasticity, Chorea, Respiratory failure, Ataxia	ORPHA:70472
Metatropic Dysplasia	Platyspondyly, Anisospondyly, Respiratory insufficiency, Kyphoscoliosis, Respiratory failure, Sco...	OMIM:156530
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Spasticity, Respiratory failure	ORPHA:168486
Raine Syndrome	Hydronephrosis, Hydroureter, Death in infancy, Neonatal death	OMIM:259775
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Hydronephrosis, Hypertonia, Scoliosis, K...	OMIM:620511
6P22 Microdeletion Syndrome	Hydronephrosis	ORPHA:251046
Renal Agenesis	Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins...	ORPHA:411709
Recombinant Chromosome 8 Syndrome	Hydronephrosis, Scoliosis, Hypertonia	OMIM:179613
Neuropathy, Congenital Hypomyelinating, 3	Spasticity, Respiratory insufficiency, Neonatal death, Babinski sign, Respiratory failure	OMIM:618186
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Abnormal vertebral morphology, Neonatal death, Hydronephrosis, Urethral atresia, Enlarged kidney	OMIM:314390
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Spasticity, Cataplexy, Fasciculations, Neurogenic bladder, Tetraplegia, Ataxia, Urinary incontine...	ORPHA:496641
Autosomal Dominant Progressive External Ophthalmoplegia	Resting tremor, Respiratory insufficiency, Nocturia, Cogwheel rigidity, Gait ataxia, Tremor, Rigi...	ORPHA:254892
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Abnormal renal collecting system morphology, Hydroureter, Unilateral renal dysplasia, Tremor, Uri...	ORPHA:280633
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Unilateral renal agenesis, Hydroureter, Bilateral renal agenesis, Hypertonia, Scoliosis, Kyphosis	OMIM:619194
Joubert Syndrome 37	Hydronephrosis, Lumbar hyperlordosis, Oculomotor apraxia, Micropenis	OMIM:619185
Hereditary Xanthinuria	Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, Increased urina...	ORPHA:3467
Neuroferritinopathy	Blepharospasm, Involuntary movements, Resting tremor, Chorea, Babinski sign, Parkinsonism, Bradyk...	ORPHA:157846
Bor Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ...	ORPHA:107
Muscular Dystrophy, Congenital, 1B	Respiratory failure	OMIM:604801
Amyloidosis, Finnish Type	Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, Renal glom...	OMIM:105120
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Spasticity, Abnormality of the urinary system, Hydroureter, Abnormal form of the vertebral bodies...	ORPHA:2636
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Hydroureter, Death in infancy, Vertebral segmentation defect, Hydro...	ORPHA:373
Koolen-De Vries Syndrome	Vesicoureteral reflux, Renal duplication, Vertebral segmentation defect, Hydronephrosis, Vertebra...	ORPHA:96169
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Respiratory insufficiency, Progressive cervical vertebral spine ...	OMIM:135100
Epidermolysis Bullosa Simplex With Pyloric Atresia	Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde...	ORPHA:158684
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Neonatal respiratory distress, Hydroureter, Dilatation of the renal pelvis, Butterfly vertebrae, ...	OMIM:265380
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Respiratory failure	OMIM:616867
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Spasticity, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Babins...	OMIM:234200
X-Linked Intellectual Disability Due To Gria3 Mutations	Spasticity, Myoclonus, Hydronephrosis, Babinski sign, Micropenis, Scoliosis, Kyphosis	ORPHA:364028
Neurodegeneration With Brain Iron Accumulation 2B	Spasticity, Chorea, Gait ataxia, Intention tremor, Dysmetria, Babinski sign, Hypertonia, Bradykin...	OMIM:610217
Kufor-Rakeb Syndrome	Blepharospasm, Urinary incontinence, Myoclonus, Rigidity, Babinski sign, Parkinsonism, Abnormal p...	ORPHA:306674
Xanthinuria, Type I	Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria	OMIM:278300
Melnick-Needles Syndrome	Anisospondyly, Respiratory insufficiency, Vesicoureteral reflux, Hydronephrosis, Scoliosis	ORPHA:2484
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Lumbar hyperlordosis, Neonatal death, Urinary incontinence, Respiratory failure, K...	OMIM:616482
Intellectual Developmental Disorder, Autosomal Dominant 73	Spasticity, Hydroureter, Lumbar hyperlordosis, Apraxia, Thoracolumbar scoliosis, Hyperlordosis, S...	OMIM:620450
Trisomy 13	Abnormality of the ureter, Displacement of the urethral meatus, Hydronephrosis, Multiple renal cy...	ORPHA:3378
Diphallia	Penoscrotal transposition, Renal malrotation, Horseshoe kidney, Distal urethral duplication, Butt...	ORPHA:227
Fraser Syndrome 2	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of...	OMIM:617666
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Unilateral renal agenesis, Renal hypoplasia, Appendicular spasticity, Hydronephrosis, Scoliosis	OMIM:618494
Ellis Van Creveld Syndrome	Hydroureter, Abnormality of the ureter, Renal hypoplasia/aplasia, Abnormality of the kidney, Hypo...	ORPHA:289
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Resting tremor, Hand tremor, Gait ataxia, Rigidity, Parkinsonism, Parkinsonism with favorable res...	OMIM:157640
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Abnormal form of the vertebral bodies, Renal hypopl...	ORPHA:3015
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Kyphosis, Respiratory insufficiency due to muscle weakness, Spina bifida occulta, Scoliosis, Resp...	OMIM:618291
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Spasticity, Renal dysplasia, Vesicoureteral reflux, Tremor, Hydronephrosis, Bladder trabeculation...	OMIM:614080
Tetrasomy 15Q26	Horseshoe kidney, Hydronephrosis, Kyphoscoliosis	OMIM:614846
9Q21.13 Microdeletion Syndrome	Hydronephrosis, Scoliosis, Vertebral segmentation defect	ORPHA:531151
22Q11.2 Duplication Syndrome	Hydronephrosis, Urethral stenosis, Scoliosis, Displacement of the urethral meatus	ORPHA:1727
Trisomy 17P	Scoliosis, Hydronephrosis, Hypertonia, Hypoplasia of penis, Urethral valve, Polycystic kidney dys...	ORPHA:261290
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Duplicated collecting system, Hydroureter, Ureterocele, Renal agenesis, Vesicoureteral reflux, Hy...	OMIM:129900
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Myoclonus, Tremor, Rigidity, Clumsiness...	ORPHA:199351
Intermediate Nemaline Myopathy	Respiratory failure	ORPHA:171433
Mitochondrial Complex I Deficiency, Nuclear Type 32	Patent urachus, Respiratory failure, Death in childhood	OMIM:618252
Mitochondrial Trifunctional Protein Deficiency 1	Lethargy, Myoglobinuria, Respiratory failure, Respiratory insufficiency	OMIM:609015
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormality of the ureter, Hyperlordosis, Hypospadias, Kyphosis, Fused cervical vertebrae	ORPHA:2522
Postsynaptic Congenital Myasthenic Syndromes	Thoracic kyphoscoliosis, Scoliosis, Respiratory failure	ORPHA:98913
Microcephaly 20, Primary, Autosomal Recessive	Ureteral agenesis, Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys	OMIM:617914
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Dysmetria, Ataxia	OMIM:618233
Multiple Acyl-Coa Dehydrogenase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Cardiorespiratory arrest, Hyperlordosis, Lacticacid...	ORPHA:26791
Niemann-Pick Disease, Type C2	Spasticity, Neonatal respiratory distress, Cataplexy, Respiratory insufficiency, Death in childho...	OMIM:607625
Triosephosphate Isomerase Deficiency	Spasticity, Respiratory insufficiency, Death in infancy, Tremor, Death in adolescence, Respirator...	OMIM:615512
Trisomy 20P	Platyspondyly, Abnormal form of the vertebral bodies, Incoordination, Abnormality of the ureter, ...	ORPHA:261318
Endove Syndrome, Limb-Brain Type	Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections	OMIM:619218
Mercury Poisoning	Acute kidney injury, Respiratory failure, Tremor	ORPHA:330021
Hardikar Syndrome	Hypoplasia of the bladder, Hydroureter, Recurrent urinary tract infections, Pyelonephritis, Vesic...	OMIM:301068
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Nephrocalcinosis, Abnormality of the urinary system, Renal cyst, Hypercalciuria, Congenital megau...	ORPHA:369837
Williams-Beuren Region Duplication Syndrome	Hydronephrosis, Speech apraxia, Unilateral renal agenesis	OMIM:609757
Fraser Syndrome 3	Hypoplasia of the bladder, Bilateral renal agenesis, Ureteral agenesis, Stillbirth, Hypoplasia of...	OMIM:617667
Desmoid Tumor	Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:873
Schinzel-Giedion Midface Retraction Syndrome	Hydroureter, Ureteral stenosis, Hydronephrosis, Opisthotonus, Micropenis, Hypospadias	OMIM:269150
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki...	OMIM:617641
Leigh Syndrome	Generalized aminoaciduria, Spasticity, Involuntary movements, Methylmalonic aciduria, Chorea, Ren...	ORPHA:506
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Hydronephrosis, Vesicoureteral reflux	OMIM:618265
Zaki Syndrome	Renal agenesis, Hydronephrosis, Hypertonia, Spastic gait, Scoliosis	OMIM:619648
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Hydroureter	OMIM:610759
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory failure, Abnormal form of the vertebral bodies, Hemivertebrae	ORPHA:2759
White-Kernohan Syndrome	Horseshoe kidney, Hydronephrosis, Hydroureter	OMIM:619426
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Tetraparesis, Death in childhood, Tremor, Rigidity, Torticollis, Ataxia, Respiratory failure	OMIM:617186
Autosomal Recessive Spastic Paraplegia Type 20	Spasticity, Spastic paraparesis, Speech apraxia, Ankle clonus, Hydronephrosis, Babinski sign, Spa...	ORPHA:101000
Boutonneuse Fever	Renal insufficiency, Respiratory failure	ORPHA:83313
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Hydronephrosis, Spastic diplegia	OMIM:300048
Parkinson Disease 20, Early-Onset	Involuntary movements, Tremor, Rigidity, Parkinsonism, Bradykinesia, Eyelid apraxia	OMIM:615530
Distal Triplication 15Q	Dilatation of the renal pelvis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormality of ...	ORPHA:314588
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydronephrosis, Scoliosis, Ureteral triplication, Hemivertebrae	OMIM:104350
Endove Syndrome, Limb-Only Type	Hydronephrosis, Vesicoureteral reflux	OMIM:619217
Distal Duplication 6P	Hydronephrosis, Renal hypoplasia, Abnormality of the urinary system	ORPHA:1745
Chand Syndrome	Hydroureter, Ataxia	ORPHA:1401
Tetraploidy	Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:3305
Ritscher-Schinzel Syndrome 1	Hydronephrosis, Hypospadias, Hemivertebrae	OMIM:220210
Noonan Syndrome 4	Hydronephrosis, Ureteral duplication, Scoliosis	OMIM:610733
Vici Syndrome	Renal tubular acidosis, Death in infancy, Ureteral atresia	ORPHA:1493
Micro Syndrome	Abnormal localization of kidney, Spasticity, Hydronephrosis, Hypoplasia of penis, Scoliosis, Kyph...	ORPHA:2510
Muscular Dystrophy, Duchenne Type	Respiratory failure, Scoliosis, Hyperlordosis, Respiratory insufficiency due to muscle weakness	OMIM:310200
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hydronephrosis, Hypoplasia of penis, Hypertonia	ORPHA:2083
Penoscrotal Transposition	Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Abnormality of the ureter,...	ORPHA:2842
Immunodeficiency 54	Respiratory failure, Respiratory insufficiency	OMIM:609981
Stankiewicz-Isidor Syndrome	Micropenis, Ureteral duplication, Hypospadias	OMIM:617516
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure, Ataxia	ORPHA:1861
Meckel Syndrome 12	Renal hypoplasia, Ureteral hypoplasia, Bilateral renal agenesis	OMIM:616258
Progressive Supranuclear Palsy	Blepharospasm, Bradykinesia, Tremor, Rigidity	ORPHA:683
Congenital Myopathy 10B, Mild Variant	Respiratory failure, Scoliosis, Hyperlordosis	OMIM:620249
Fanconi Anemia	Hypospadias, Abnormality of the urinary system, Hydroureter, Recurrent urinary tract infections, ...	ORPHA:84
Severe Congenital Nemaline Myopathy	Micropenis, Hypospadias, Respiratory failure	ORPHA:171430
Primary Hyperoxaluria Type 2	Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ...	ORPHA:93599
Young-Onset Parkinson Disease	Spasticity, Rigidity, Tremor, Bradykinesia	ORPHA:2828
Ciliary Dyskinesia, Primary, 5	Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Resp...	OMIM:608647
Congenital Multicore Myopathy With External Ophthalmoplegia	Micropenis, Scoliosis, Respiratory failure	ORPHA:98905
3C Syndrome	Hypospadias, Death in infancy, Hydronephrosis, Hemivertebrae, Hypoplasia of penis, Scoliosis, Kyp...	ORPHA:7
Muscular Dystrophy, Congenital, With Or Without Seizures	Frequent falls, Respiratory failure, Ataxia	OMIM:620166
Kury-Isidor Syndrome	Hydronephrosis, Scoliosis	OMIM:619762
3-Methylglutaconic Aciduria, Type Viii	3-Methylglutaric aciduria, Tremor, 3-Methylglutaconic aciduria, Neonatal death, Death in infancy,...	OMIM:617248
Brain Malformations With Or Without Urinary Tract Defects	Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux	OMIM:613735
Autosomal Recessive Spondylocostal Dysostosis	Abnormal form of the vertebral bodies, Respiratory insufficiency, Abnormality of the ureter, Vert...	ORPHA:2311
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure	OMIM:619483
Intellectual Disability, Buenos-Aires Type	Spastic gait, Cuboid-shaped thoracolumbar vertebral bodies, Hydronephrosis	ORPHA:3079
Webb-Dattani Syndrome	Spasticity, Vesicoureteral reflux, Hydronephrosis, Neurogenic bladder, Hyposthenuria	OMIM:615926
Vacterl/Vater Association	Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Vertebral segmentation ...	ORPHA:887
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Frequent falls, Respiratory failure	OMIM:603689
Proximal Spinal Muscular Atrophy	Tongue fasciculations, Neonatal respiratory distress, Intercostal muscle weakness, Respiratory in...	ORPHA:70
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad...	OMIM:614527
Cardiac Valvular Dysplasia 1	Hydronephrosis, Hydroureter, Urethral diverticulum	OMIM:212093
Phosphoribosylpyrophosphate Synthetase Superactivity	Urolithiasis, Renal insufficiency, Death in childhood, Hyperuricosuria, Ataxia, Uric acid nephrol...	OMIM:300661
Microcephaly 26, Primary, Autosomal Dominant	Hydronephrosis, Spastic tetraparesis, Scoliosis	OMIM:619179
Igg4-Related Kidney Disease	Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o...	ORPHA:449395
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hydronephrosis, Micropenis, Platyspondyly, Hypospadias	OMIM:616897
Khan-Khan-Katsanis Syndrome	Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Hypertonia, Ureteral duplica...	OMIM:618460
Zellweger Syndrome	Multicystic kidney dysplasia, Respiratory insufficiency, Death in infancy, Hydronephrosis, Hyposp...	ORPHA:912
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Spasticity, Hydronephrosis, Scoliosis, Kyphosis	OMIM:616449
Rett Syndrome	Bradykinesia, Scoliosis, Limb apraxia	ORPHA:778
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Respiratory failure, Death in infancy, Neonatal death	OMIM:265120
Idiopathic Pulmonary Hemosiderosis	Respiratory failure, Glomerulonephritis	ORPHA:99931
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Butterfly vertebrae, Vesicoureteral reflux, Hydronephrosis, Micrope...	OMIM:301056
Congenital Disorder Of Glycosylation, Type Iig	Butterfly vertebrae, Renal insufficiency, Vertebral segmentation defect, Hydronephrosis, Kyphosco...	OMIM:611209
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Block vertebrae, Supernumerary vertebrae, Hydronephrosis, Urethral atresia, Hemivertebrae, Verteb...	OMIM:271520
Hoxha-Aliu Syndrome	Platyspondyly, Abnormal vertebral morphology, Increased vertebral height, Vesicoureteral reflux, ...	OMIM:620662
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
ERI1-related disease	Platyspondyly, Increased vertebral height, Vesicoureteral reflux, Hydronephrosis, Scoliosis	OMIM:608739
Avian Influenza	Acute kidney injury, Respiratory failure, Miscarriage	ORPHA:454836
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Hydronephrosis, Limb hypertonia	ORPHA:488613
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Multiple bladder diverticula, Neonatal asphyxia	ORPHA:2728
Bladder Exstrophy	Recurrent urinary tract infections, Abnormality of the ureter, Vesicoureteral reflux, Hypoplasia ...	ORPHA:93930
Pelizaeus-Merzbacher Disease, Connatal Form	Lower limb spasticity, Titubation, Respiratory failure, Ataxia	ORPHA:280210
Coffin-Siris Syndrome 1	Renal hypoplasia, Hydroureter, Gait ataxia, Hydronephrosis, Ectopic kidney, Spina bifida occulta,...	OMIM:135900
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Decreased urine output, Respiratory failure	ORPHA:542323
Mitochondrial Complex I Deficiency, Nuclear Type 1	Tongue fasciculations, Spasticity, Respiratory insufficiency, 3-hydroxydicarboxylic aciduria, Dea...	OMIM:252010
Combined Oxidative Phosphorylation Deficiency 37	Spasticity, Respiratory failure, 3-Methylglutaconic aciduria, Respiratory insufficiency	OMIM:618329
Toluene Embryopathy	Hydronephrosis, Abnormal localization of kidney	ORPHA:1920
Campomelic Dysplasia	Respiratory insufficiency, Hydronephrosis, Poorly ossified cervical vertebrae, Scoliosis, Kyphosis	ORPHA:140
Microphthalmia, Syndromic 9	Renal hypoplasia, Respiratory insufficiency, Horseshoe kidney, Neonatal death, Hydronephrosis, Pe...	OMIM:601186
Silver-Russell Syndrome 1	Abnormality of the ureter, Nephroblastoma, Urethral valve, Hypospadias, Congenital posterior uret...	OMIM:180860
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Spastic paraparesis, Action tremor, Rigidity, Hypertonia, Truncal ataxia, Bradykinesia, Dysdiadoc...	ORPHA:309854
Congenital Myopathy 21 With Early Respiratory Failure	Respiratory failure	OMIM:620326
Infantile Krabbe Disease	Spasticity, Myoclonus, Ankle clonus, Opisthotonus, Lower limb spasticity, Decerebrate rigidity, R...	ORPHA:206436
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Spasticity, Renal agenesis, Kyphoscoliosis, Hydronephrosis, Hemivertebrae, Micropeni...	OMIM:301040
Duane-Radial Ray Syndrome	Renal hypoplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Vesicoureteral r...	OMIM:607323
Glycine Encephalopathy With Normal Serum Glycine	Clonus, Respiratory failure, Hypertonia, Exaggerated startle response	OMIM:617301
Scedosporiosis	Abnormal renal morphology, Respiratory failure	ORPHA:449280
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Platyspondyly, Abnormal vertebral morphology, Hydroureter, Hydronephrosis, Abnormality of the upp...	ORPHA:2273
Suleiman-El-Hattab Syndrome	Hydronephrosis	OMIM:618950
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Ureteral duplication, Duplication of renal pelvis, Hand tremor	ORPHA:457212
Renal-Hepatic-Pancreatic Dysplasia 1	Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Ureteral atresia, Neonatal ...	OMIM:208540
Chromosome 2P16.1-P15 Deletion Syndrome	Hydronephrosis, Spasticity, Micropenis, Kyphoscoliosis	OMIM:612513
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Renal duplication	OMIM:270420
Amyotrophic Lateral Sclerosis	Spasticity, Fasciculations, Babinski sign, Paralysis, Respiratory failure	ORPHA:803
8P Inverted Duplication/Deletion Syndrome	Abnormality of the urinary system, Progressive spastic paraplegia, Hydronephrosis, Hypertonia, Mi...	ORPHA:96092
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Oligosacchariduria, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, ...	ORPHA:308552
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Unilateral renal hypoplasia, Renal insufficiency, Ureteropelvic junction obs...	ORPHA:49041
Pneumocystosis	Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficiency	ORPHA:723
Netherton Syndrome	Aminoaciduria, Hydronephrosis, Ectopic kidney	ORPHA:634
Baller-Gerold Syndrome	Abnormality of the ureter, Vesicoureteral reflux, Hydronephrosis, Abnormal localization of kidney...	ORPHA:1225
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Respiratory failure, Head titubation, Spastic tetraplegia	ORPHA:3240
Congenital Disorder Of Glycosylation, Type Iie	Neonatal asphyxia, Respiratory insufficiency, Death in infancy, Hydronephrosis, Neurogenic bladder	OMIM:608779
Acro-Renal-Ocular Syndrome	Horseshoe kidney, Crossed fused renal ectopia, Vesicoureteral reflux, Vertebral segmentation defe...	ORPHA:959
Kleefstra Syndrome	Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Renal cyst, Micropenis, Hypoplasia of...	ORPHA:261494
Combined Oxidative Phosphorylation Deficiency 12	Babinski sign, Bradykinesia, Spastic tetraparesis	OMIM:614924
Urban-Rogers-Meyer Syndrome	Abnormality of the ureter, Hypoplasia of penis, Kyphosis	ORPHA:3409
X-Linked Dominant Chondrodysplasia Punctata	Hydronephrosis, Hypoplastic cervical vertebrae, Abnormally ossified vertebrae, Kyphoscoliosis	ORPHA:35173
Tarp Syndrome	Horseshoe kidney, Athetosis, Hydronephrosis, Neonatal death	OMIM:311900
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Hydronephrosis, Neonatal respiratory distress	ORPHA:457193
Mitochondrial Trifunctional Protein Deficiency	Respiratory insufficiency, Babinski sign, Lethargy, Frequent falls, Respiratory failure	ORPHA:746
Musculocontractural Ehlers-Danlos Syndrome	Cervical kyphosis, Functional abnormality of the bladder, Horseshoe kidney, Nephrolithiasis, Hydr...	ORPHA:2953
Johanson-Blizzard Syndrome	Hydronephrosis, Hypoplasia of penis, Hypospadias, Death in infancy	ORPHA:2315
Kabuki Syndrome	Abnormal localization of kidney, Abnormal form of the vertebral bodies, Crossed fused renal ectop...	ORPHA:2322
Hyperphosphatasia-Intellectual Disability Syndrome	Myoclonus, Hydronephrosis, Oculomotor apraxia, Ataxia, Scoliosis	ORPHA:247262
Chondrodysplasia Punctata 2, X-Linked Dominant	Punctate vertebral calcifications, Kyphoscoliosis, Hydronephrosis, Hemivertebrae, Scoliosis	OMIM:302960
Takenouchi-Kosaki Syndrome	Unilateral renal agenesis, Hypospadias, Hydronephrosis, Ataxia, Scoliosis	OMIM:616737
Patent Urachus	Recurrent urinary tract infections, Cystocele, Patent urachus, Congenital posterior urethral valv...	ORPHA:431341
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Platyspondyly, Increased vertebral height, Vesicoureteral reflux, Hydronephrosis, Scoliosis	OMIM:620663
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, Neonatal respiratory distress, Frequent falls, Death in childhood, Hydronephrosis,...	OMIM:214100
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Hydronephrosis, Respiratory failure	ORPHA:254528
Pseudoleprechaunism Syndrome, Patterson Type	Bladder diverticulum, Kyphoscoliosis	ORPHA:2976
Congenital Myopathy 17	Hydronephrosis, Renal hypoplasia, Ureteropelvic junction obstruction, Respiratory insufficiency	OMIM:618975
Riddle Syndrome	Enuresis nocturna, Neonatal asphyxia, Poor hand-eye coordination, Clumsiness, Ataxia, Respiratory...	ORPHA:420741
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Platyspondyly, Progressive ...	OMIM:225400
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Hydronephrosis, Lower limb spasticity, Scoliosis, Kyphosis	ORPHA:261349
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Mosaic Trisomy 8	Hydronephrosis, Scoliosis, Vesicoureteral reflux, Vertebral segmentation defect	ORPHA:96061
Mesomelia-Synostoses Syndrome	Hydronephrosis	ORPHA:2496
Staphylococcal Necrotizing Pneumonia	Lethargy, Respiratory failure	ORPHA:36238
46,Xy Sex Reversal 4	Hydronephrosis, Ureteropelvic junction obstruction, Renal dysplasia	OMIM:154230
Peroxisome Biogenesis Disorder 4B	Ureterocele, Ataxia	OMIM:614863
Sandestig-Stefanova Syndrome	Respiratory failure	OMIM:618804
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory failure, Death in childhood, Death in infancy, Thoracic scoliosis	OMIM:620278
Poliomyelitis	Fasciculations, Hyperkinetic movements, Paralysis, Paraparesis, Respiratory failure, Respiratory ...	ORPHA:2912
Carey-Fineman-Ziter Syndrome	Glandular hypospadias, Scoliosis, Hydronephrosis	ORPHA:1358
Beta-Mercaptolactate Cysteine Disulfiduria	Abnormality of the ureter	ORPHA:1035
Pelvis-Shoulder Dysplasia	Hydronephrosis, Lumbar hyperlordosis, Abnormal form of the vertebral bodies	ORPHA:2839
Mosaic Trisomy 9	Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Hemivertebrae, Hypoplasia of penis, Scoli...	ORPHA:99776
Joubert Syndrome 21	Hyperechogenic kidneys, Renal cyst, Oculomotor apraxia, Ataxia, Respiratory failure	OMIM:615636
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Respiratory failure	OMIM:620296
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, Spina bifida occulta, Scoliosis, Ectopic...	OMIM:235510
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Spasticity, Male urethral meatus stenosis, Hydronephrosis, Scoliosis, Kyphosis	ORPHA:464738
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hydronephrosis, Duplicated collecting system, Spasticity	ORPHA:541423
Combined Oxidative Phosphorylation Deficiency 3	Respiratory insufficiency, Death in childhood, Death in infancy, Tremor, Ataxia, Respiratory failure	OMIM:610505
Supranuclear Palsy, Progressive, 2	Postural tremor, Retrocollis, Rigidity, Parkinsonism, Bradykinesia, Eyelid apraxia	OMIM:609454
Occipital Horn Syndrome	Platyspondyly, Ureteral obstruction, Hydronephrosis, Bladder diverticulum, Kyphosis	OMIM:304150
Koolen-De Vries Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Vertebral fusion, Scol...	OMIM:610443
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Duplicated collecting system, Spasticity, Vesicoureteral reflux, Death in infancy, Bilateral feta...	OMIM:300868
Deafness-Lymphedema-Leukemia Syndrome	Respiratory failure	ORPHA:3226
Vater/Vacterl Association	Abnormal vertebral morphology, Renal agenesis, Vesicoureteral reflux, Ureteropelvic junction obst...	OMIM:192350
15Q Overgrowth Syndrome	Ureterovesical stenosis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormal renal morphol...	ORPHA:314585
Igg4-Related Aortitis	Hydronephrosis	ORPHA:449400
15q26 overgrowth syndrome	Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro...	DECIPHER:81
Poland Syndrome	Renal hypoplasia, Ureterocele, Vesicoureteral reflux, Vertebral segmentation defect, Renal hypopl...	ORPHA:2911
Beckwith-Wiedemann Syndrome	Nephropathy, Vesicoureteral reflux, Nephroblastoma, Nephrolithiasis, Hypercalciuria, Multiple ren...	ORPHA:116
Osteopetrosis, Autosomal Recessive 5	Limb hypertonia, Clonus, Hypertonia, Stillbirth, Respiratory failure, Spastic tetraplegia	OMIM:259720
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hydronephrosis, Duplicated collecting system, Spasticity	OMIM:617093
Scalp-Ear-Nipple Syndrome	Duplication of renal pelvis, Recurrent urinary tract infections, Pyelonephritis, Abnormality of t...	ORPHA:2036
Infant Acute Respiratory Distress Syndrome	Respiratory failure	ORPHA:70587
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Hydronephrosis, Moderate albuminuria, Platyspondyly, Scoliosis	OMIM:619269
Mckusick-Kaufman Syndrome	Multicystic kidney dysplasia, Glandular hypospadias, Renal hypoplasia/aplasia, Urethral stricture...	ORPHA:2473
Aredyld Syndrome	Abnormality of the ureter, Scoliosis	ORPHA:1133
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory failure	OMIM:617895
Branchio-Oculo-Facial Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Renal agenesis	ORPHA:1297
Thakker-Donnai Syndrome	Hydronephrosis, Cervical C2/C3 vertebral fusion, Hemivertebrae	ORPHA:1780
Autosomal Recessive Cutis Laxa Type 1	Multiple bladder diverticula, Urethral diverticulum, Recurrent urinary tract infections, Respirat...	ORPHA:90349
Pfeiffer Syndrome Type 3	Horseshoe kidney, Hydronephrosis, Vesicoureteral reflux	ORPHA:93260
Intellectual Developmental Disorder, Autosomal Dominant 53	Hydronephrosis, Involuntary movements, Micropenis	OMIM:617798
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Polycystic...	ORPHA:2237
Exstrophy-Epispadias Complex	Penoscrotal transposition, Renal hypoplasia, Renal dysplasia, Horseshoe kidney, Abnormality of th...	ORPHA:322
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Spastic paraplegia, Recurrent urinary tract infections, Death in infancy, Hydronephrosis, Abnorma...	ORPHA:847
Adult Acute Respiratory Distress Syndrome	Respiratory failure	ORPHA:70578
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Vesicoureteral reflux, Vertebral segmentation defect, Hydronephrosis, Abnormal bladder morphology...	ORPHA:453499
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hydronephrosis, Micropenis, Death in infancy	OMIM:235255
Cerebellar-Facial-Dental Syndrome	Hydronephrosis, Scoliosis, Limb hypertonia, Ureteropelvic junction obstruction	ORPHA:444072
Acute Lung Injury	Respiratory failure	ORPHA:178320
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Renal hypoplasia, Spasticity, Nephrocalcinosis, Renal artery stenosis, Hydronephrosis	OMIM:617913
Feingold Syndrome Type 1	Nephritis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Abnormal...	ORPHA:391641
Supranuclear Palsy, Progressive, 1	Retrocollis, Tremor, Rigidity, Parkinsonism, Bradykinesia, Eyelid apraxia	OMIM:601104
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Unilateral renal agenesis, Hypospadias, Hydronephrosis, Renal cyst, Micropenis, Scoliosis, Pelvic...	ORPHA:464311
Combined Oxidative Phosphorylation Defect Type 23	Respiratory failure	ORPHA:444013
Surfactant Metabolism Dysfunction, Pulmonary, 3	Neonatal respiratory distress, Respiratory failure, Death in infancy, Neonatal death	OMIM:610921
Early Infantile Epileptic Encephalopathy	Spasticity, Ureterocele, Renal dysplasia, Episodic ataxia, Myoclonus, Tremor, Micropenis, Choreoa...	ORPHA:1934
Alg9-Cdg	Hypoplasia of the bladder, Abnormal renal artery morphology, Hydronephrosis, Lower limb spasticit...	ORPHA:79328
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Respiratory insufficiency, Intercostal muscle weakness, Hyperlordosis, Scoliosis, Respiratory fai...	ORPHA:258
Developmental Delay With Or Without Dysmorphic Facies And Autism	Renal hypoplasia, Microphallus, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Scoliosis	OMIM:618454
Stromme Syndrome	Hydronephrosis, Bilateral renal hypoplasia, Stillbirth	OMIM:243605
Listeriosis	Acute kidney injury, Pyelonephritis, Myoclonus, Tremor, Hemiparesis, Ataxia, Respiratory failure,...	ORPHA:533
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Unilateral renal agenesis, Hydronephrosis, Stillbirth, Scoliosis, Vertebral hypoplasia	OMIM:308050
Otopalatodigital Syndrome Type 2	Hypospadias, Ureteral obstruction, Hydronephrosis, Scoliosis, Abnormal vertebral segmentation and...	ORPHA:90652
1Q21.1 Microdeletion Syndrome	Hydronephrosis, Scoliosis, Vesicoureteral reflux	ORPHA:250989
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Acute kidney injury, Oliguria, Anuria, Decreased glomerular filtration ra...	ORPHA:340
Melnick-Needles Syndrome	Ureteral stenosis, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Hydronephrosis, Stil...	OMIM:309350
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Vesicoureteral reflux, Hydronephrosis, Micropenis, Scoliosis, Pelvic kidney	OMIM:618653
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Hydronephrosis, Scoliosis, Renal dysplasia	OMIM:300968
Tarp Syndrome	Horseshoe kidney, Hydronephrosis, Athetoid cerebral palsy, Scoliosis	ORPHA:2886
Alagille Syndrome	Abnormal form of the vertebral bodies, Abnormality of the ureter, Vertebral segmentation defect, ...	ORPHA:52
Malignant Atrophic Papulosis	Respiratory failure, Abnormality of the lower urinary tract	ORPHA:679
Asbestos Intoxication	Respiratory failure	ORPHA:2302
Dyrk1A-Related Intellectual Disability Syndrome	Unilateral renal agenesis, Hypospadias, Hydronephrosis, Renal cyst, Micropenis, Scoliosis, Pelvic...	ORPHA:464306
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory failure	ORPHA:2707
Fryns Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Vesicoureteral reflux, Hypospadias	ORPHA:2059
Congenital Disorder Of Glycosylation, Type Iiaa	Hydronephrosis, Unilateral renal agenesis	OMIM:620454
Williams Syndrome	Spasticity, Death in early adulthood, Ataxia, Involuntary movements, Renal insufficiency, Dysmetr...	ORPHA:904
Gabriele-De Vries Syndrome	Hydronephrosis, Ureteropelvic junction obstruction, Tremor	OMIM:617557
Thrombocytopenia-Absent Radius Syndrome	Dilatation of the renal pelvis, Horseshoe kidney, Vesicoureteral reflux, Death in infancy, Axial ...	OMIM:274000
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Respiratory failure	ORPHA:244
Cat Eye Syndrome	Horseshoe kidney, Hydronephrosis, Vesicoureteral reflux, Renal agenesis	OMIM:115470
Cardiofaciocutaneous Syndrome 1	Hydronephrosis, Oculomotor apraxia, Scoliosis, Hypertonia	OMIM:115150
Encephalocraniocutaneous Lipomatosis	Hydronephrosis, Pelvic kidney	OMIM:613001
Smith-Magenis Syndrome	Abnormal form of the vertebral bodies, Abnormality of the ureter, Renal hypoplasia/aplasia, Abnor...	ORPHA:819
Au-Kline Syndrome	Chronic kidney disease, Dilatation of the renal pelvis, Vesicoureteral reflux, Vertebral segmenta...	OMIM:616580
Microphthalmia, Syndromic 1	Hypospadias, Renal hypoplasia, Hydroureter, Lumbar hyperlordosis, Kyphoscoliosis, Renal hypoplasi...	OMIM:309800
Choreoacanthocytosis	Blepharospasm, Poor motor coordination, Involuntary movements, Resting tremor, Chorea, Hyperkinet...	ORPHA:2388
Abetalipoproteinemia	Gait ataxia, Dysmetria, Kyphoscoliosis, Babinski sign, Ataxia, Upper motor neuron dysfunction, Re...	ORPHA:14
Glycogen Storage Disease Due To Acid Maltase Deficiency	Oligosacchariduria, Respiratory insufficiency, Hyperlordosis, Respiratory insufficiency due to mu...	ORPHA:365
Al-Gazali Syndrome	Hydronephrosis	OMIM:609465
Niemann-Pick Disease Type C	Cataplexy, Respiratory insufficiency, Speech apraxia, Chorea, Myoclonus, Tremor, Progressive gait...	ORPHA:646
Granulomatosis With Polyangiitis	Ureteral stenosis, Respiratory insufficiency, Hemiplegia, Renal insufficiency, Hematuria, Protein...	ORPHA:900
Fryns Syndrome	Renal agenesis, Hydronephrosis, Renal cyst, Stillbirth, Ureteral duplication, Hypospadias	OMIM:229850
Bickerstaff Brainstem Encephalitis	Facial paralysis, Tetraparesis, Babinski sign, Abnormal pyramidal sign, Tetraplegia, Ataxia, Resp...	ORPHA:79138
Intellectual Developmental Disorder, Autosomal Dominant 42	Cerebral palsy, Hemiplegia, Myoclonus, Ureteropelvic junction obstruction, Hydronephrosis, Neurog...	OMIM:616973
Congenital Alveolar Capillary Dysplasia	Hydronephrosis, Abnormal vertebral morphology	ORPHA:210122
Acute Interstitial Pneumonia	Respiratory failure	ORPHA:79126
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia, Hydronephrosis, Scoliosis	ORPHA:2092
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Acute kidney injury, Nephronophthisis, Stage 5 chronic kidney disease, Reduced renal corticomedul...	OMIM:266920
Erdheim-Chester Disease	Hydronephrosis, Dysuria, Renal insufficiency, Ataxia	ORPHA:35687
Dubowitz Syndrome	Hypospadias, Respiratory insufficiency, Hydronephrosis, Spina bifida occulta, Scoliosis	ORPHA:235
Tuberous Sclerosis Complex	Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Renal angiomyolipoma...	ORPHA:805
Teebi-Shaltout Syndrome	Horseshoe kidney, Hydronephrosis, Ureteral stenosis	OMIM:272950
S-Adenosylhomocysteine Hydrolase Deficiency	Respiratory failure	ORPHA:88618
Hereditary Orotic Aciduria	Aminoaciduria, Abnormality of the ureter, Oroticaciduria, Orotic acid crystalluria	ORPHA:30
7Q11.23 Microduplication Syndrome	Unilateral renal agenesis, Hypospadias, Dysmetria, Hydronephrosis, Hemivertebrae, Enuresis	ORPHA:96121
Cutis Laxa, Autosomal Recessive, Type Ia	Bladder diverticulum	OMIM:219100
Genitopatellar Syndrome	Hydronephrosis, Multicystic kidney dysplasia	ORPHA:85201
Cutis Laxa, Autosomal Recessive, Type Ic	Hydronephrosis, Multiple bladder diverticula, Death in childhood, Death in infancy	OMIM:613177
Frontometaphyseal Dysplasia	Ureteral obstruction, Hydronephrosis, Spina bifida occulta, Urethral stenosis, Scoliosis, Fused c...	ORPHA:1826
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hydronephrosis, Abnormal renal morphology, Micropenis	ORPHA:1655
Autosomal Recessive Robinow Syndrome	Multicystic kidney dysplasia, Death in infancy, Vertebral segmentation defect, Hydronephrosis, Hy...	ORPHA:1507
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Enuresis, Renal agenesis, Grade III vesicoureteral reflux, Ureteropelvic junction obstruction, Ur...	OMIM:619522
Smith-Lemli-Opitz Syndrome	Abnormal localization of kidney, Multicystic kidney dysplasia, Abnormal form of the vertebral bod...	ORPHA:818
Schinzel-Giedion Syndrome	Spasticity, Abnormality of the ureter, Nephroblastoma, Nephrolithiasis, Hydronephrosis, Renal cys...	ORPHA:798
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hydronephrosis, Respiratory insufficiency, Urachus fistula, Recurrent urinary tract infections	OMIM:612541
Knobloch Syndrome 1	Bifid ureter, Renal duplication, Hydronephrosis, Ataxia, Duplicated collecting system, Spina bifi...	OMIM:267750
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Abnormality of the ureter, Renal hypoplasia/aplasia	ORPHA:1770
Arterial Tortuosity Syndrome	Cardiorespiratory arrest, Scoliosis, Respiratory failure	ORPHA:3342
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Oliguria, Recurrent urinary tract infections, Reduced renal corticomedullary...	ORPHA:731
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Bladder diverticulum, Kyphoscoliosis	OMIM:614557
Peripartum Cardiomyopathy	Respiratory failure	ORPHA:563
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Respiratory insufficiency, Myoclonus, Death in childhood, Tetraplegia, Respiratory failure	OMIM:618278
Robinow Syndrome, Autosomal Recessive 1	Nephrocalcinosis, Thoracic hemivertebrae, Renal duplication, Nephrolithiasis, Hydronephrosis, Tho...	OMIM:268310
Congenital Fiber-Type Disproportion Myopathy	Kyphoscoliosis, Intercostal muscle weakness, Hyperlordosis, Respiratory insufficiency due to musc...	ORPHA:2020
Menkes Disease	Bladder diverticulum, Spasticity, Chorea, Hypertonia	ORPHA:565
Pulmonary Alveolar Microlithiasis	Hematuria, Calcium nephrolithiasis, Respiratory failure, Respiratory insufficiency	ORPHA:60025
Cardiofaciocutaneous Syndrome	Hydronephrosis, Scoliosis	ORPHA:1340
Kyphoscoliotic Ehlers-Danlos Syndrome	Bladder diverticulum, Scoliosis, Congenital kyphoscoliosis, Kyphoscoliosis	ORPHA:536545
Opitz Gbbb Syndrome	Abnormality of the urinary system, Vesicoureteral reflux, Vertebral segmentation defect, Hydronep...	ORPHA:2745
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hydronephrosis, Micropenis, Hypospadias, Respiratory insufficiency	ORPHA:163979
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent urinary tract infections, Speech apraxia, Vesicoureteral reflux, Renal duplication, Fet...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent urinary tract infections, Speech apraxia, Vesicoureteral reflux, Renal duplication, Fet...	ORPHA:363958
Campomelic Dysplasia	Neonatal respiratory distress, Cervical kyphosis, Hypoplastic cervical vertebrae, Kyphoscoliosis,...	OMIM:114290
Distal Deletion 12Q	Vesicoureteral reflux, Kyphoscoliosis, Hydronephrosis, Ectopic kidney, Micropenis, Polycystic kid...	ORPHA:96149
Cousin Syndrome	Hydronephrosis, Anterior rounding of vertebral bodies	OMIM:260660
Robinow Syndrome	Webbed penis, Multicystic kidney dysplasia, Kyphoscoliosis, Hydronephrosis, Hemivertebrae, Fused ...	ORPHA:97360
Acrorenal-Mandibular Syndrome	Abnormal sacral segmentation, Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, ...	OMIM:200980
Peutz-Jeghers Syndrome	Abnormality of the ureter, Multiple renal cysts, Renal cell carcinoma	ORPHA:2869
Osteogenesis Imperfecta, Type Vii	Hydronephrosis, Vertebral compression fracture, Scoliosis, Death in infancy	OMIM:610682
Congenital Disorder Of Glycosylation, Type It	Hydronephrosis	OMIM:614921
Myhre Syndrome	Platyspondyly, Respiratory insufficiency, Enlarged vertebral pedicles, Ataxia, Vertebral fusion, ...	OMIM:139210
Otopalatodigital Syndrome, Type Ii	Platyspondyly, Respiratory insufficiency, Kyphoscoliosis, Hydronephrosis, Stillbirth, Hypospadias...	OMIM:304120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Williams-Beuren Syndrome	Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Incoordination, Renal art...	OMIM:194050
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Hypospadias, Respiratory failure, Epispadias	ORPHA:2554
Trisomy 18	Hydronephrosis, Abnormality of the upper urinary tract, Hypertonia	ORPHA:3380
Eec Syndrome	Vesicoureteral reflux, Renal hypoplasia/aplasia, Hydronephrosis, Urethral atresia, Hypospadias	ORPHA:1896
Occipital Horn Syndrome	Platyspondyly, Recurrent urinary tract infections, Bladder diverticulum, Scoliosis, Kyphosis	ORPHA:198
Jacobsen Syndrome	Multicystic kidney dysplasia, Abnormal form of the vertebral bodies, Death in infancy, Hydronephr...	ORPHA:2308
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hydronephrosis, Unilateral renal agenesis, Scoliosis, Hypospadias	ORPHA:487796
Thauvin-Robinet-Faivre Syndrome	Renal dysplasia, Bifid ureter, Nephroblastoma, Renal cyst, Renal malrotation	OMIM:617107
Restrictive Dermopathy 1	Kyphoscoliosis, Neonatal death, Stillbirth, Ureteral duplication, Hypospadias	OMIM:275210
Congenital Tricuspid Valve Dysplasia	Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:555874
Floating-Harbor Syndrome	Hypospadias, Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Speech apraxia, St...	ORPHA:2044
Smith-Lemli-Opitz Syndrome	Unilateral renal agenesis, Renal hypoplasia, Duplicated collecting system, Renal agenesis, Ureter...	OMIM:270400
Rajab Interstitial Lung Disease With Brain Calcifications 1	Respiratory insufficiency, Scoliosis, Respiratory failure, Recurrent urinary tract infections	OMIM:613658
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory failure, Respiratory insufficiency	OMIM:610913
Bloom Syndrome	Respiratory failure, Nephroblastoma, Recurrent urinary tract infections	ORPHA:125
Schwartz-Jampel Syndrome	Blepharospasm, Platyspondyly, Abnormality of the urinary system, Respiratory insufficiency, Abnor...	ORPHA:800
Sotos Syndrome	Abnormal vertebral morphology, Renal agenesis, Renal insufficiency, Vesicoureteral reflux, Tremor...	ORPHA:821
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Renal insufficiency, Tremor, Proteinuria, Hydronephrosis, Ataxia	ORPHA:2750
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Spina bifida occulta, Renal malrotati...	ORPHA:500095
Holoprosencephaly 3	Hydronephrosis	OMIM:142945
Knobloch Syndrome	Bifid ureter, Vesicoureteral reflux	ORPHA:1571
Lethal Acantholytic Erosive Disorder	Respiratory failure	ORPHA:158687
Nijmegen Breakage Syndrome	Pollakisuria, Respiratory failure	ORPHA:647
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Hydronephrosis, Scoliosis, Vesicoureteral reflux, Vertebral segmentation defect	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Hydronephrosis, Scoliosis, Vesicoureteral reflux, Vertebral segmentation defect	ORPHA:352665
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the ureter, Hyperlordosis	ORPHA:3253
Apert Syndrome	Hydronephrosis, Cervical C5/C6 vertebrae fusion	OMIM:101200
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Pyelonephritis, Scoliosis, Bladder diverticulum	ORPHA:90348
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral renal agenesis, Spasticity, Horseshoe kidney, Lumbar hyperlordosis, Kyphoscoliosis, He...	ORPHA:500150
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Abnormality of the ureter, Abnormality of the bladder, Hypospadias, Ep...	ORPHA:3339
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Hydronephrosis, Duplicated collecting system, Gait ataxia, Ureteropelvic junction obstruction	OMIM:280000
Craniofacioskeletal Syndrome	Hydronephrosis, Hypospadias	OMIM:300712
Trisomy 8P	Hydronephrosis, Nephrocalcinosis, Micropenis, Fetal pyelectasis	ORPHA:264450
Wiedemann-Rautenstrauch Syndrome	Spasticity, Irregular sclerotic endplates, Recurrent urinary tract infections, Wide penis, Vesico...	ORPHA:3455
Meckel Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Urethral atresia	ORPHA:564
3Mc Syndrome 1	Hydronephrosis, Spina bifida occulta	OMIM:257920
Geleophysic Dysplasia 3	Respiratory failure	OMIM:617809
Osteopetrosis With Renal Tubular Acidosis	Tetraparesis, Distal renal tubular acidosis, Renal tubular acidosis, Nephrolithiasis, Hydronephro...	ORPHA:2785
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Renal hypoplasia, Ureteral stenosis	OMIM:270100
Charge Syndrome	Respiratory insufficiency, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, Hemivertebrae...	ORPHA:138
Mesomelia-Synostoses Syndrome	Hydronephrosis, Abnormal vertebral morphology	OMIM:600383
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Hypospadias, Respiratory failure, Epispadias	ORPHA:2556
1P36 Deletion Syndrome	Hemiplegia/hemiparesis, Hydronephrosis, Renal cyst, Abnormality of the kidney, Hypoplasia of peni...	ORPHA:1606
Focal Dermal Hypoplasia	Horseshoe kidney, Bifid ureter, Hydronephrosis, Spina bifida occulta, Ureteral duplication, Scoli...	OMIM:305600
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Lower limb dysmetria, Kyphoscoliosis, Hydronephrosis, Renal hypoplasia/aplasia, Abnormal renal mo...	ORPHA:363700
Peters Plus Syndrome	Multicystic kidney dysplasia, Renal duplication, Renal hypoplasia/aplasia, Hydronephrosis, Spina ...	ORPHA:709
Bardet-Biedl Syndrome	Chronic kidney disease, Spasticity, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, Neur...	ORPHA:110
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Involuntary movements, Vesicoureteral reflux, Myoclonus, Nephrolithiasis, Hydronephrosis, Exagger...	ORPHA:438213
Skin Creases, Congenital Symmetric Circumferential, 2	Hypospadias, Ureterocele	OMIM:616734
Ulbright-Hodes Syndrome	Abnormal penis morphology, Renal hypoplasia, Ovoid thoracolumbar vertebrae, Polycystic kidney dys...	ORPHA:3404
Okamoto Syndrome	Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Hydronephrosis, Urinary incontin...	ORPHA:2729
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Renal hypoplasia, Respiratory insufficiency, Absent or minimally ossified vertebral bodies, Hydro...	ORPHA:93271
Arboleda-Tham Syndrome	Hydronephrosis, Recurrent urinary tract infections, Neonatal respiratory distress, Lower limb hyp...	OMIM:616268
Monosomy 22Q13.3	Hydronephrosis, Recurrent pyelonephritis, Vesicoureteral reflux, Renal dysplasia	ORPHA:48652
Nijmegen Breakage Syndrome	Hydronephrosis, Recurrent urinary tract infections	OMIM:251260
Proboscis Lateralis	Ureteral agenesis, Unilateral renal agenesis, Duplication of renal pelvis	ORPHA:141099
Floating-Harbor Syndrome	Nephrocalcinosis, Glandular hypospadias, Kyphoscoliosis, Hydronephrosis, Hypospadias, Congenital ...	OMIM:136140
Kabuki Syndrome 1	Abnormal vertebral morphology, Crossed fused renal ectopia, Ureteropelvic junction obstruction, H...	OMIM:147920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydronephrosis, Spasticity, Micropenis, Multicystic kidney dysplasia	OMIM:615287
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Kyphoscoliosis, Hemivertebrae, Scoliosis, Respiratory failure, Miscarriage	ORPHA:96334
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s...	ORPHA:79500
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Hydronephrosis, Nephrotic syndrome, Scoliosis	OMIM:601776
Costello Syndrome	Renal insufficiency, Respiratory failure, Respiratory insufficiency	OMIM:218040
Chime Syndrome	Hydronephrosis, Abnormality of the kidney	ORPHA:3474
Dextrocardia	Abnormality of the ureter, Abnormal renal morphology	ORPHA:1666
Steinert Myotonic Dystrophy	Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory failure,...	ORPHA:273
Peutz-Jeghers Syndrome	Abnormality of the ureter, Bladder polyp	OMIM:175200
Rubinstein-Taybi Syndrome 1	Incoordination, Hydronephrosis, Spina bifida occulta, Poor coordination, Scoliosis, Hypospadias	OMIM:180849
Ileal Neuroendocrine Tumor	Hydronephrosis	ORPHA:100078
Gabriele-De Vries Syndrome	Hydronephrosis, Ureteropelvic junction obstruction, Tremor	ORPHA:506358
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hydronephrosis, Cleft vertebral arch, Micropenis, Fused cervical vertebrae	ORPHA:83617
Simpson-Golabi-Behmel Syndrome, Type 1	Neonatal respiratory distress, Duplication of renal pelvis, Nephroblastoma, Vertebral segmentatio...	OMIM:312870
Restrictive Dermopathy	Ureteral duplication, Thoracic kyphoscoliosis, Hypospadias	ORPHA:1662
Peters-Plus Syndrome	Renal hypoplasia, Hydronephrosis, Hemivertebrae, Ureteral duplication, Scoliosis, Hypospadias	OMIM:261540
Digeorge Syndrome	Unilateral renal agenesis, Renal insufficiency, Intervertebral disk degeneration, Hemiparesis, Hy...	OMIM:188400
Lacrimoauriculodentodigital Syndrome	Hydronephrosis, Renal hypoplasia, Scoliosis, Vesicoureteral reflux	ORPHA:2363
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Abnormality of the urinary system, Recurrent urinary tract infections, Vesicoureteral reflux, Nep...	ORPHA:353281
Classical Ehlers-Danlos Syndrome	Bladder diverticulum, Scoliosis	ORPHA:287
Hydrolethalus Syndrome 1	Hydronephrosis, Hypospadias, Stillbirth	OMIM:236680
Tetrasomy 9P	Recurrent urinary tract infections, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Micro...	ORPHA:3310
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Glycosuria	OMIM:600001
Acrofacial Dysostosis, Cincinnati Type	Abnormality of coordination, Myoclonus, Hydronephrosis, Lower limb spasticity, Vocal cord paralys...	OMIM:616462
Biliary, Renal, Neurologic, And Skeletal Syndrome	Spasticity, Dilatation of the renal pelvis, Hyperechogenic kidneys, Medullary nephrocalcinosis, D...	OMIM:619534
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormality of the urinary system, Recurrent urinary tract infections, Vesicoureteral reflux, Nep...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormality of the urinary system, Recurrent urinary tract infections, Vesicoureteral reflux, Nep...	ORPHA:353277
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication	ORPHA:2255
Liver Disease, Severe Congenital	Aminoaciduria, Recurrent urinary tract infections, Hyperechogenic kidneys, Hydronephrosis, Alpha-...	OMIM:619991
Robinow Syndrome, Autosomal Dominant 1	Hydronephrosis, Micropenis, Renal duplication	OMIM:180700
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hydronephrosis, Scoliosis, Thoracolumbar scoliosis, Renal dysplasia	ORPHA:480880
Genitopatellar Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Scoliosis, Micropenis	OMIM:606170
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Webbed penis, Spasticity, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal duplication,...	ORPHA:261537
Charge Syndrome	Renal hypoplasia, Renal agenesis, Horseshoe kidney, Hydronephrosis, Hemivertebrae, Micropenis, Sc...	OMIM:214800
Mowat-Wilson Syndrome	Webbed penis, Multicystic kidney dysplasia, Spasticity, Vesicoureteral reflux, Renal duplication,...	ORPHA:2152
Nocardiosis	Respiratory failure	ORPHA:31204
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Webbed penis, Spasticity, Multicystic kidney dysplasia, Duplication of renal pelvis, Vesicoureter...	ORPHA:261552
Congenital Tracheal Stenosis	Neonatal asphyxia, Abnormality of the ureter, Abnormality of the kidney	ORPHA:141127
Vascular Ehlers-Danlos Syndrome	Respiratory insufficiency, Cystocele, Bladder diverticulum, Renovascular hypertension, Hypospadias	ORPHA:286
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hydronephrosis	OMIM:620330
Viss Syndrome	Hydronephrosis, Scoliosis, Butterfly vertebrae, Kyphosis	OMIM:619472
Meckel Syndrome, Type 1	Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Polycystic kidney dysplasia...	OMIM:249000
Johanson-Blizzard Syndrome	Death in childhood, Hydronephrosis, Micropenis, Hypospadias, Urethrovaginal fistula	OMIM:243800
Perlman Syndrome	Tall stature	ORPHA:2849
Perlman Syndrome	Nephroblastomatosis, Renal hamartoma, Nephroblastoma, Nephrogenic rest	OMIM:267000
Nephroblastoma	Hematuria, Nephroblastoma	ORPHA:654

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 Dis3l2

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 Dis3l2.

No publications found that use IMPC mice or data for Dis3l2.

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MGI Allele	Allele Type	Produced
Dis3l2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Dis3l2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Dis3l2^em1(IMPC)Bay	Exon Deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Dis3l2 MGI:2442555

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Eye Morphology

Eye Morphology

MicroCT E18.5

Eye Morphology

Human diseases caused by Dis3l2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data