Gene Summary

Name:
DIS3 like 3'-5' exoribonuclease 2
Synonyms:
4930429A22Rik,  8030493P09Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
hemorrhage Dis3l2em1(IMPC)Bay HOM E18.5 0.00
increased body length Dis3l2em1(IMPC)Bay HET Early adult 1.53×10-06
preweaning lethality, complete penetrance Dis3l2em1(IMPC)Bay HOM   Early adult 0.00
abnormal embryo size Dis3l2em1(IMPC)Bay HOM E18.5 0.00
abnormal tail morphology Dis3l2em1(IMPC)Bay HOM E18.5 0.00

Download data as:  TSV  XLS

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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 left fundus

13 Images

Eye Morphology

VIP of right eye

13 Images

Eye Morphology

VIP of left eye

13 Images

Eye Morphology

VIP of right fundus

13 Images

MicroCT E18.5

Embryo reconstruction

7 Images

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.

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Mitochondrial Complex I Deficiency, Nuclear Type 18
Myoclonus, Hydroureter, Death in infancy, Hydronephrosis, Respiratory failure OMIM:618240
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Urofacial Syndrome 2
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... OMIM:615112
Congenital Primary Megaureter
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... ORPHA:617
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... OMIM:143400
Dysmyelination With Jaundice
Cerebral palsy, Hydroureter, Hypoplasia of penis, Hydronephrosis OMIM:224250
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Vesicoureteral Reflux 3
Hydroureter, Vesicoureteral reflux, Hydronephrosis OMIM:613674
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Neonatal death, Hydronephrosis, Fetal megacystis, Megacystis OMIM:619362
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Urinary urgency OMIM:605909
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Lower limb spasticity, Bradykinesia, Urinary urgency OMIM:618878
Spastic Paraplegia 80, Autosomal Dominant
Bradykinesia, Limb ataxia, Babinski sign, Urinary urgency, Spastic paraplegia, Upper limb spastic... OMIM:618418
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Urofacial Syndrome 1
Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc... OMIM:236730
Autosomal Dominant Spastic Paraplegia Type 3
Bradykinesia, Ankle clonus, Babinski sign, Rigidity, Urinary urgency, Frequent falls, Lower limb ... ORPHA:100984
Atresia Of Urethra
Hydroureter, Recurrent urinary tract infections, Bladder fistula, Renal dysplasia, Renal insuffic... ORPHA:105
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Ataxia, Bradykinesia, Death in childhood, Chorea, Lethargy OMIM:618683
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:613643
Spastic Paraplegia 78, Autosomal Recessive
Ataxia, Bradykinesia, Resting tremor, Abnormal pyramidal sign, Babinski sign, Urinary urgency, Pa... OMIM:617225
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Thymic Aplasia With Fetal Death
Renal agenesis, Stillbirth, Ureteral agenesis OMIM:274210
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Parkinsonism with favorable response to dopaminergic medication, Progressiv... ORPHA:240103
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Ankle clonus, Babinski sign, Parkinsonism, Scoliosis, Tremor, Spasticity, Scissor gait ORPHA:521406
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Hypertonia, Respiratory insufficiency, Central apnea, Death in infancy, Respiratory failure OMIM:611722
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Rigidity, Bradykinesia, Parkinsonism OMIM:168100
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Nephrolithiasis, Megacystis, Recurrent urinary tract infections, Fetal pyelectasis OMIM:619365
Renal Hypodysplasia/Aplasia 4
Bilateral renal agenesis, Respiratory failure OMIM:619887
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Abnormality of the urinary system, Limb fasciculations, Cough, Respiratory ... ORPHA:90117
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Megacystis, Hydroureter, Hydronephrosis OMIM:619431
Dystonia 16
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Postural tremor ORPHA:210571
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Intention tremor, Tremor by anatomical site, Abnormal pyr... ORPHA:101110
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Parkinsonism, Hemiparesis, Scoliosis, Tremor, Neonatal asphyxia ORPHA:306669
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... ORPHA:98762
Spinocerebellar Ataxia 17
Ataxia, Bradykinesia, Dysmetria, Limb ataxia, Intention tremor, Myoclonus, Parkinsonism, Rigidity... OMIM:607136
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Fetal megacystis, Hydroureter OMIM:249210
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Lumbar hyperlordosis, Ankle clonus, Hemiparesis, Tetraparesis, Tongue fasciculations, Respiratory... OMIM:600561
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral dysgenesis, Ureteral agenesis OMIM:274265
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Rigidity, Spasticity, Fasciculations OMIM:183050
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Death in childhood, Respiratory failure, Tongue fasciculations OMIM:253300
Lopes-Maciel-Rodan Syndrome
Hypertonia, Kyphosis, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Scoliosis, Tremor, Spa... OMIM:617435
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory insufficiency, Neonatal death, Renal cyst, Renal hypoplasia, Respiratory failure OMIM:228940
Brain-Lung-Thyroid Syndrome
Respiratory distress, Asthma, Ataxia, Clumsiness, Intention tremor, Hypospadias, Myoclonus, Chore... ORPHA:209905
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Rigidity, Bradykinesia, Parkinsonism OMIM:600116
Prune Belly Syndrome
Urogenital sinus anomaly, Vertebral segmentation defect, Abnormality of the ureter, Recurrent uri... ORPHA:2970
Mitochondrial Membrane Protein-Associated Neurodegeneration
Bradykinesia, Spastic paraparesis, Hand tremor, Respiratory insufficiency, Babinski sign, Parkins... ORPHA:289560
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Bradykinesia, Dysmetria, Abnormal pyramidal sign, Parkinsonism, Chorea OMIM:618317
Spinocerebellar Ataxia 10
Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Dysmetria, Dysdiadochokinesis, Babinski... OMIM:603516
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic tetraparesis, Spastic gait, Abnormal pyramidal sign, Bradykinesia OMIM:619052
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Unilateral renal agenesis, Bilateral renal agenesis, Death in infa... OMIM:618845
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Dysdiadochokinesis, Bradykinesia ORPHA:228169
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Abnormality of the upper urinary tract, Hydroureter, Hypoplasia of penis, Abnormality of the bladder ORPHA:2547
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Rigidity, Bradykinesia ORPHA:306686
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Butyrylcholinesterase Deficiency
Respiratory failure, Paralysis, Respiratory failure requiring assisted ventilation ORPHA:132
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Spasticity, Apraxia, Slurred ... OMIM:300423
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Lacticaciduria, Babinski sign, Bradykinesia OMIM:619063
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Renal hypoplasia/aplasia, Hydroureter, Abnormality of the urethra, Mult... ORPHA:2973
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Nephrolithiasis, Hydroureter, Vesicoureteral reflux OMIM:617219
Leber Optic Atrophy And Dystonia
Bradykinesia, Scoliosis, Athetosis, Spasticity, Upper motor neuron dysfunction OMIM:500001
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Hydronephrosis OMIM:598500
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Rigidity, Apnea, Respiratory insufficiency, Respiratory failure OMIM:613869
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Parkinsonism with favorable response to dopaminergic medication, Bradykines... ORPHA:240085
Spinocerebellar Ataxia 2
Urinary bladder sphincter dysfunction, Ataxia, Action tremor, Progressive cerebellar ataxia, Brad... OMIM:183090
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Thoracolumbar scoliosis, Spina bifida occulta, Ureteral atresia, Hydronephrosis OMIM:183802
Striatal Degeneration, Autosomal Dominant 1
Rigidity, Dysdiadochokinesis, Bradykinesia OMIM:609161
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter, Respiratory insufficiency ORPHA:2487
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Renal hypoplasia, Respiratory failure, Abnormal vertebral morphology, ... OMIM:276950
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Hypertonia, Bradykinesia, Limb ataxia, Babinski sign, Parkinsonism, Rigidity OMIM:618824
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Abnormality of extrapyramidal ... OMIM:300894
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Parkinsonism, Bradykinesia, Resting tremor ORPHA:306692
Parkinson Disease 22, Autosomal Dominant
Tremor, Bradykinesia, Resting tremor OMIM:616710
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Bladder exstrophy, Horseshoe kidney, Epispadias OMIM:600057
Parkinsonism With Polyneuropathy
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:619279
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Bradykinesia, Myoclonus, Babinski sign, Rigidity, Parkinsonism, Gait ataxia, Postural tre... ORPHA:101150
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Apnea, Ataxia, Kyphoscoliosis, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Scolios... OMIM:300055
Parkinson Disease 19A, Juvenile-Onset
Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, Rigidity, Parkinsoni... OMIM:615528
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Myoclonus, Scoliosis, Limb myoclonus, Frequent falls, Tremor, Recurrent aspiration pn... ORPHA:2590
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Respiratory insufficiency, Myoclonus, Death in infancy, Spasticity, Respiratory failure, ... OMIM:614299
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Hydroureter, Multicystic kidney dysplasia, Death in infancy, Megacystis ORPHA:2241
Adrenomyodystrophy
Abnormality of the urinary system, Megacystis ORPHA:977
Autosomal Recessive Spastic Paraplegia Type 77
Kyphoscoliosis, Bradykinesia, Intention tremor, Myoclonus, Babinski sign, Weakness due to upper m... ORPHA:466722
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
3-Methylglutaconic Aciduria, Type Viii
Apnea, Hypertonia, Tremor, 3-Methylglutaconic aciduria, Death in infancy, Respiratory failure OMIM:617248
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Rigidity, Parkinsonism, Tremor, Choreoathetosis OMIM:261640
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Ataxia, Bradykinesia, Dysmetria, Truncal ataxia, Urinary urgency, Hemiparesis, Gait ataxia, Incoo... OMIM:601338
Dystonia 12
Torticollis, Tremor, Bradykinesia, Parkinsonism OMIM:128235
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Pontocerebellar Hypoplasia, Type 1C
Spastic tetraparesis, Respiratory insufficiency, Respiratory failure OMIM:616081
Parkinson Disease 17
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure, Lethargy OMIM:605711
Macdermot-Winter Syndrome
Death in infancy, Hydronephrosis OMIM:247990
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Cough, Tubulointerstitial fibrosis, Respiratory failure OMIM:263000
Neuromyelitis Optica Spectrum Disorder
Functional abnormality of the bladder, Paraplegia, Respiratory failure ORPHA:71211
Caribbean Parkinsonism
Action tremor, Bradykinesia, Myoclonus, Rigidity, Parkinsonism, Weakness due to upper motor neuro... ORPHA:97355
Hinman Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral... ORPHA:84085
Huntington Disease
Rigidity, Gait ataxia, Bradykinesia, Chorea OMIM:143100
Pontocerebellar Hypoplasia, Type 4
Hypertonia, Myoclonus, Death in infancy, Spasticity, Respiratory failure OMIM:225753
Hereditary Neuropathy With Liability To Pressure Palsies
Respiratory insufficiency, Scoliosis, Vocal cord paralysis ORPHA:640
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hypertonia, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Head titubation, Tre... OMIM:618877
Humero-Radio-Ulnar Synostosis
Abnormality of the upper urinary tract, Abnormality of the ureter ORPHA:3266
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Gait ataxia ORPHA:71517
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Oromotor apraxia, Parkinso... ORPHA:454887
Prune Belly Syndrome
Hydroureter, Congenital posterior urethral valve, Hydronephrosis, Urethral valve OMIM:100100
Arthrogryposis Multiplex Congenita 6
Hypospadias, Death in childhood, Neonatal death, Death in infancy, Respiratory failure OMIM:619334
Hereditary Motor And Sensory Neuropathy, Type Iic
Urinary incontinence, Stridor, Urinary urgency, Scoliosis, Vocal cord paresis, Intercostal muscle... OMIM:606071
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Respiratory insufficiency, Scoliosis, Diaphragmatic paralysis, Restrictive ... OMIM:614399
Huntington Disease-Like 2
Rigidity, Action tremor, Bradykinesia, Chorea OMIM:606438
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Bradykinesia, Limb ataxia, Limb myoclonus, Gait ataxia, Postural tremor OMIM:619862
Renal Hypoplasia
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... ORPHA:93101
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Machado-Joseph Disease
Urinary bladder sphincter dysfunction, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Limb ... OMIM:109150
Multiple System Atrophy
Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Central sleep apnea, Abnormal pyrami... ORPHA:102
Atypical Juvenile Parkinsonism
Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Rigidity, Scoliosis, Gait ataxi... ORPHA:391411
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal... ORPHA:266
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Ataxia, Respiratory insufficiency, Rigidity, Neonatal death, Spasticity, Respiratory failure OMIM:610127
Developmental Delay And Seizures With Or Without Movement Abnormalities
Rigidity, Tremor, Ataxia, Bradykinesia OMIM:617836
Hyperekplexia 4
Hypertonia, Myoclonus, Respiratory failure, Kyphoscoliosis OMIM:618011
Wolfram Syndrome 1
Ataxia, Hydroureter, Tremor, Hydronephrosis, Neurogenic bladder OMIM:222300
Juvenile Huntington Disease
Ataxia, Progressive cerebellar ataxia, Bradykinesia, Myoclonus, Rigidity, Chorea, Gait ataxia ORPHA:248111
Familial Visceral Myopathy
Hydroureter, Vesicoureteral reflux, Megacystis ORPHA:2604
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Death in infancy, Renal insufficiency, Lacticaciduria, Respiratory failure, Lethargy OMIM:619386
Myopathy, Congenital, Progressive, With Scoliosis
Respiratory insufficiency, Scoliosis, Hydronephrosis, Renal atrophy, Respiratory insufficiency du... OMIM:618578
Infantile Dystonia-Parkinsonism
Hypertonia, Bradykinesia, Limb hypertonia, Abnormal pyramidal sign, Parkinsonism, Cerebral palsy,... ORPHA:238455
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... ORPHA:363654
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Respiratory failure, Respiratory insufficiency due to muscle weakness, Scoliosis OMIM:618291
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor ORPHA:329284
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Elevated pulmonary artery pressure, Renal cortical hyperechogenicity, Respiratory failure requiri... OMIM:619351
Atypical Progressive Supranuclear Palsy Syndrome
Kyphoscoliosis, Blepharospasm, Bradykinesia, Extrapyramidal muscular rigidity, Tremor by anatomic... ORPHA:99750
Spinocerebellar Ataxia Type 8
Ataxia, Bradykinesia, Limb ataxia, Rigidity, Spastic dysarthria, Gait ataxia, Spasticity, Aspirat... ORPHA:98760
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polyuria, Megacystis OMIM:125800
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Respiratory insufficiency, Platyspondyly, Thoracolumbar scoliosis, Respiratory failure OMIM:313420
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polyuria, Megacystis OMIM:304800
Posterior Urethral Valve
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Recurrent urinary tract infections, ... ORPHA:93110
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Stage 2 chronic kidney disease, Hypospadias, Recurrent urinary tract infections, Hydronephrosis, ... OMIM:191800
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Bradykinesia, Rigidity, Parkinsonism, Spasticity, Apraxia OMIM:221820
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Spasticity, Hydronephrosis OMIM:617093
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Spastic paraparesis, Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, ... OMIM:615157
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Respiratory failure OMIM:618637
Congenital Muscular Dystrophy With Intellectual Disability
Poor gross motor coordination, Micropenis, Respiratory insufficiency, Scoliosis, Respiratory failure ORPHA:370968
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Spastic tetraplegia, Spastic paraparesis, Bradykinesia OMIM:615643
Cloacal Exstrophy
Renal hypoplasia/aplasia, Hypoplasia of penis, Ureterocele, Hemivertebrae, Hydroureter, Bladder e... ORPHA:93929
Fragile X Tremor/Ataxia Syndrome
Action tremor, Bradykinesia, Poor fine motor coordination, Resting tremor, Dysmetria, Intention t... OMIM:300623
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Dysdiadochokinesis, Fasciculations, Chore... ORPHA:98755
Codas Syndrome
Coronal cleft vertebrae, Hydroureter, Scoliosis, Abnormal form of the vertebral bodies ORPHA:1458
Dystonia 16
Bradykinesia, Retrocollis, Abnormal pyramidal sign, Parkinsonism, Involuntary movements, Postural... OMIM:612067
Parkinson Disease 7, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bradykinesia, Res... OMIM:606324
Multiple System Atrophy, Parkinsonian Type
Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Central sleep apnea, Abnormal pyrami... ORPHA:98933
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia, Myoclonus, Rigidity, Neonatal respiratory distress, Respiratory failure OMIM:619057
Congenital Arthrogryposis With Anterior Horn Cell Disease
Kyphosis, Scoliosis, Neonatal death, Respiratory failure, Respiratory insufficiency due to muscle... OMIM:611890
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Hypertonia, Limb hypertonia, Bradykinesia, Parkinsonism OMIM:617384
Parkinsonism-Dystonia 1, Infantile-Onset
Hypertonia, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Hyperkinetic m... OMIM:613135
Hepatic Veno-Occlusive Disease
Respiratory failure, Renal insufficiency ORPHA:890
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Renal insu... OMIM:614723
Spinocerebellar Ataxia Type 13
Torticollis, Clumsiness, Bradykinesia, Limb ataxia, Myoclonus, Urinary urgency, Titubation, Gait ... ORPHA:98768
Perry Syndrome
Bradykinesia, Respiratory arrest, Central hypoventilation, Respiratory insufficiency, Parkinsonis... OMIM:168605
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Hypertonia, Ataxia, Bradykinesia, Opisthotonus, Myoclonus, Rigidity, Hyperkinetic movements, Chor... ORPHA:13
Multiple System Atrophy, Cerebellar Type
Progressive cerebellar ataxia, Bradykinesia, Central sleep apnea, Limb ataxia, Resting tremor, Ab... ORPHA:227510
Postencephalitic Parkinsonism
Kyphosis, Bradykinesia, Resting tremor, Tremor by anatomical site, Babinski sign, Abnormal pyrami... ORPHA:97349
X-Linked Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:53351
Megabladder, Congenital
Multiple glomerular cysts, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Fetal megacystis OMIM:618719
Alg1-Cdg
Kyphosis, Nephrotic syndrome, Abnormality of the kidney, Scoliosis, Renal insufficiency, Respirat... ORPHA:79327
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Childhood-Onset Nemaline Myopathy
Clumsiness, Bradykinesia, Reduced vital capacity, Scoliosis, Respiratory insufficiency due to mus... ORPHA:171439
Adult-Onset Nemaline Myopathy
Bradykinesia, Reduced vital capacity, Respiratory insufficiency due to muscle weakness ORPHA:171442
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... OMIM:606693
Visceral Myopathy 1
Megacystis, Urinary retention, Vesicoureteral reflux, Hydronephrosis OMIM:155310
Huntington Disease-Like 1
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Simultanapraxia, Chorea, Frequ... ORPHA:157941
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nephrolithiasis, Slowed slurred speech, Bradykinesia OMIM:619827
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Resting tremor, Babinski ... ORPHA:225147
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Enlarged... OMIM:613496
Fanconi Anemia, Complementation Group O
Miscarriage, Neonatal death, Renal cyst, Death in infancy, Hydronephrosis, Stage 5 chronic kidney... OMIM:613390
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... OMIM:619725
Bladder Diverticulum
Dysuria, Solitary bladder diverticulum, Recurrent urinary tract infections, Hematuria, Urinary he... OMIM:109820
Caudal Duplication
Vertebral segmentation defect, Renal hypoplasia/aplasia, Abnormal penis morphology, Bifid sacrum,... ORPHA:1756
X-Linked Intellectual Disability, Schimke Type
Choreoathetosis, Vesicoureteral reflux, Spasticity, Hydronephrosis ORPHA:85285
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
3-Methylglutaconic Aciduria Type 7
Hypertonia, Opisthotonus, Myoclonus, Abnormal pyramidal sign, Progressive extrapyramidal movement... ORPHA:445038
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Parkinsonism, Bradykinesia ORPHA:412066
Microphthalmia, Lenz Type
Kyphosis, Renal hypoplasia/aplasia, Hypospadias, Hydroureter, Scoliosis, Hyperlordosis, Hydroneph... ORPHA:568
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Clumsiness, Progressive cerebellar ataxia, Bradykin... ORPHA:282166
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Scoliosis, Recurrent pneumonia, Ventilator depen... ORPHA:254875
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Respiratory failure, Death in infancy, Spasticity OMIM:616277
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in childhood, Methylmalonic aciduria, Respiratory insufficiency, Neonatal death, Death in i... OMIM:245400
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Ataxia, Abnormal pyramidal sign, Incoordination, Spina bifida occulta, Tremor, Hydronephrosis, Oc... OMIM:618060
Severe Generalized Junctional Epidermolysis Bullosa
Dysuria, Respiratory distress, Ureterocele, Aplasia/Hypoplasia of the bladder, Ureteral obstructi... ORPHA:79404
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Clumsiness, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Postural tremor OMIM:619911
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Nephrolithiasis, Kyphosis, Dyspnea, Respiratory failure, Respiratory insufficiency due to muscle ... ORPHA:352447
Nephrogenic Diabetes Insipidus
Hydroureter, Hyposthenuria, Functional abnormality of the bladder, Renal insufficiency, Enuresis ... ORPHA:223
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Ureteral agenesis, Renal dysplasia, Renal cyst, Renal hypoplasia, Stillbirth OMIM:236500
Parkinsonian-Pyramidal Syndrome
Bradykinesia, Intention tremor, Myoclonus, Abnormal pyramidal sign, Babinski sign, Parkinsonism, ... ORPHA:171695
Primary Progressive Freezing Gait
Bradykinesia, Babinski sign, Rigidity, Frequent falls, Clonus, Postural tremor, Urinary incontinence ORPHA:75567
Joubert Syndrome 35
Sleep apnea, Ataxia, Recurrent urinary tract infections, Multicystic kidney dysplasia, Renal fibr... OMIM:618161
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Urinary urgency, Tremor OMIM:168600
Visceral Myopathy 2
Megacystis OMIM:619350
Czeizel-Losonci Syndrome
Congenital megaureter, Abnormality of the urinary system, Spina bifida occulta, Ureteral agenesis... ORPHA:2437
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism, Bradykinesia, Resting tremor OMIM:614251
Hypermanganesemia With Dystonia 2
Clumsiness, Bradykinesia, Opisthotonus, Ankle clonus, Babinski sign, Parkinsonism, Scoliosis, Tre... OMIM:617013
Cardiac Valvular Dysplasia 1
Hydroureter, Hydronephrosis, Urethral diverticulum OMIM:212093
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Bradykinesia, Resting tremor, Hand tremor, Ankle clonus, Pill-rolling tremor, Nocturi... OMIM:612953
Parkinson Disease 21
Tremor, Rigidity, Bradykinesia, Parkinsonism OMIM:616361
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Blepharospasm, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Chorea, Tremor, Chore... OMIM:606159
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Bradykinesia, Limb ataxia, Intention tremor, Babinski sign, Parkinsonism, Truncal ataxia, Rigidit... OMIM:258450
Ochoa Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Ve... ORPHA:2704
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Action tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:254886
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Resting tremor, Myoclonus, Rigidity, Parkinsonism, Urinary urgency OMIM:168601
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Fasciculations, Respiratory failure, Tongue fasciculations OMIM:613435
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Hypertonia, Opisthotonus, Micropenis, Death in childhood, Babinski sign, Cerebral palsy, Myoclonu... OMIM:619847
Parkinson Disease 8, Autosomal Dominant
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, Ri... OMIM:607060
Image Syndrome
Hypospadias, Hydronephrosis ORPHA:85173
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Apnea, Scoliosis, Hydronephrosis OMIM:619797
Hypermanganesemia With Dystonia 1
Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, ... OMIM:613280
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Bladder diverticulum, Ureterocele, Micropenis, Renal agenesis, Hydroureter, Renal dysplasia, Dupl... OMIM:604292
Generalized Epilepsy With Febrile Seizures-Plus
Ataxia, Bradykinesia, Poor fine motor coordination, Tremor, Incoordination ORPHA:36387
Noonan Syndrome 9
Hydroureter OMIM:616559
Huntington Disease
Clumsiness, Bradykinesia, Poor fine motor coordination, Myoclonus, Babinski sign, Rigidity, Chore... ORPHA:399
Marden-Walker Syndrome
Kyphosis, Renal hypoplasia/aplasia, Abnormal penis morphology, Abnormality of the upper urinary t... ORPHA:2461
Dravet Syndrome
Action tremor, Bradykinesia, Poor fine motor coordination, Myoclonus, Rigidity, Parkinsonism, Cog... ORPHA:33069
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Limb hypertonia, Cerebral palsy, Rigidity, Tremor ORPHA:70594
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Ankle clonus, Babinski sign, Tetraparesis, Spasticity, Fasciculations, Lower limb spasticity, Res... OMIM:613954
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst, Respiratory failure, Death in infancy OMIM:614862
Multiple System Atrophy 1, Susceptibility To
Ataxia, Bradykinesia, Babinski sign, Parkinsonism, Urinary urgency, Rigidity, Tremor, Urinary inc... OMIM:146500
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Hypospadias, Scoliosis, Spasticity, Hydronephrosis OMIM:616449
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Hypertonia, Ataxia, Dysmetria, Intention tremor, Myoclonus, Babinski sign, Scoliosis, Tremor, Gai... OMIM:616505
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis ORPHA:195
Caudal Regression Syndrome
Hypoplastic vertebral bodies, Renal agenesis, Abnormal vertebral segmentation and fusion, Abnorma... ORPHA:3027
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Ataxia, Bradykinesia, Babinski sign, Rigidity, Parkinsonism, Scoliosis, Gait ataxia,... ORPHA:98808
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Tachypnea, Diaphragmatic paralysis, Inspiratory stridor, Ventilator dependence with inability to ... OMIM:604320
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Hydronephrosis OMIM:607598
Mandibulofacial Dysostosis With Alopecia
Hydroureter OMIM:616367
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Respiratory insufficiency, Multicystic kidney dysplasia, Nephro... ORPHA:1909
Cystic Hamartoma Of Lung And Kidney
Respiratory insufficiency, Multicystic kidney dysplasia ORPHA:2111
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Tremor, Gait ataxia... OMIM:137440
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Renal tubular dysfunction, Respiratory distress, Ataxia, Aminoaciduria, Death in childhood, Glyco... OMIM:220110
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Hypoplasia of penis, Hypospadias, Abnormality of the ureter, Respirator... ORPHA:1046
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Kyphosis, Scoliosis, Frequent falls, Respiratory failure ORPHA:75840
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Spasticity, Neonatal respiratory distress, Respiratory failure ORPHA:168486
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Combined Oxidative Phosphorylation Deficiency 12
Spastic tetraparesis, Bradykinesia OMIM:614924
Oeis Complex
Vesicovaginal fistula, Micropenis, Renal agenesis, Hemivertebrae, Hydroureter, Bladder exstrophy,... OMIM:258040
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Ataxia, Dysmetria, Central hypoventilation, Respiratory failure OMIM:618233
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... ORPHA:36238
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Polyuria, Respiratory insufficiency, Hyperechogenic kidneys, Proteinuria,... OMIM:613845
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Gait ataxia, Spasticity, Poor m... ORPHA:363400
Ventriculomegaly With Defects Of The Radius And Kidney
Renal agenesis, Ectopic kidney, Ureteral duplication, Horseshoe kidney OMIM:602200
Carpenter Syndrome 1
Hydroureter, Spina bifida occulta, Scoliosis, Hydronephrosis OMIM:201000
Frontometaphyseal Dysplasia 1
Cervical C2/C3 vertebral fusion, Hydroureter, Scoliosis, Fused cervical vertebrae, Hydronephrosis... OMIM:305620
Avian Influenza
Respiratory distress, Miscarriage, Nonproductive cough, Tachypnea, Cough, Pneumothorax, Acute kid... ORPHA:454836
Pallister-Hall Syndrome
Distal urethral duplication, Micropenis, Hemivertebrae, Hydroureter, Neonatal death, Renal dyspla... OMIM:146510
Radio-Renal Syndrome
Respiratory distress, Renal hypoplasia/aplasia, Chylothorax, Renal agenesis, Multicystic kidney d... ORPHA:3015
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal agenesis, Scoliosis, Renal hypoplasia, Hydronephrosis, Obstructive sleep apnea OMIM:618494
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Pneumocystosis
Hypoxemia, Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infect... ORPHA:723
Asbestos Intoxication
Oxygen desaturation on exertion, Reduced vital capacity, Hypoxemia, Nonproductive cough, Wheezing... ORPHA:2302
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Postsynaptic Congenital Myasthenic Syndromes
Reduced vital capacity, Scoliosis, Orthopnea, Thoracic kyphoscoliosis, Restrictive ventilatory de... ORPHA:98913
Fragile X-Associated Tremor/Ataxia Syndrome
Urinary bladder sphincter dysfunction, Ataxia, Bradykinesia, Dysmetria, Intention tremor, Parkins... ORPHA:93256
Classic Progressive Supranuclear Palsy Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240071
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormality of the kidney, Hypospadias, 3-Methylglutaconic aciduria, Death in infancy, Respirator... ORPHA:1194
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Chronic rhinitis, Recurrent sinusit... OMIM:608647
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Long-chain dicarboxylic aciduria, Respiratory insufficiency, Ureteral duplication, Renal d... OMIM:608836
Rett Syndrome
Motor stereotypy, Bradykinesia, Scoliosis, Stereotypical hand wringing, Limb apraxia, Abnormal pa... ORPHA:778
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Ataxia, Central sleep apnea, Chorea, Spasticity, Respiratory failure, Obstructive sleep apnea ORPHA:70472
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Ataxia, Death in childhood, Babinski sign, Tachypnea, Spasticity, Spastic tetraparesis, Respirato... OMIM:615838
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dyspnea, Pulmo... OMIM:265120
Xanthinuria, Type I
Xanthine nephrolithiasis, Pyelonephritis, Xanthinuria, Hydronephrosis OMIM:278300
Waisman Syndrome
Cogwheel rigidity, Parkinsonism, Bradykinesia, Resting tremor OMIM:311510
Penile Agenesis
Urethral atresia, male, Urethral fistula, Bilateral renal hypoplasia, Hydroureter, Bilateral rena... ORPHA:49
Diabetic Embryopathy
Vertebral segmentation defect, Renal hypoplasia/aplasia, Micropenis, Ureteral duplication, Hydron... ORPHA:1926
Hereditary Late-Onset Parkinson Disease
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, Sp... ORPHA:411602
Trisomy 1Q
Multicystic kidney dysplasia, Hydronephrosis, Congenital megaureter ORPHA:261344
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure, Spastic tetraplegia OMIM:615330
Congenital Disorder Of Glycosylation, Type Iig
Vertebral segmentation defect, Butterfly vertebrae, Hypospadias, Scoliosis, Renal insufficiency, ... OMIM:611209
Leigh Syndrome
Ataxia, Respiratory insufficiency, Spasticity, Abnormal pattern of respiration, Respiratory failure OMIM:256000
Mercury Poisoning
Respiratory distress, Interstitial pneumonitis, Tremor, Acute kidney injury, Dyspnea, Respiratory... ORPHA:330021
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Bladder diverticulum, Scoliosis, Hyperlordosis OMIM:617821
Mckusick-Kaufman Syndrome
Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula, Hydronephrosis OMIM:236700
Central Hypoventilation Syndrome, Congenital, 3
Central hypoventilation, Apnea, Respiratory failure OMIM:619483
Baraitser-Winter Cerebrofrontofacial Syndrome
Abnormality of the upper urinary tract, Hydroureter, Scoliosis, Hydronephrosis ORPHA:2995
Axial Mesodermal Dysplasia Spectrum
Vertebral segmentation defect, Renal hypoplasia/aplasia, Abnormality of the ureter, Abnormality o... ORPHA:1834
Metatropic Dysplasia
Kyphosis, Kyphoscoliosis, Respiratory insufficiency, Platyspondyly, Scoliosis, Anisospondyly, Res... OMIM:156530
Vitamin B12-Responsive Methylmalonic Acidemia
Respiratory insufficiency, Renal insufficiency, Lethargy ORPHA:28
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Ataxia, Cataplexy, Scoliosis, Respiratory failure requiring assisted ventilatio... ORPHA:496641
Junctional Epidermolysis Bullosa With Pyloric Atresia
Aplasia of the bladder, Ureterocele, Renal duplication, Hematuria, Urethral stricture, Renal dysp... ORPHA:79403
Snakebite Envenomation
Pseudobulbar paralysis, Respiratory paralysis, Respiratory failure, Acute kidney injury, Paralysi... ORPHA:449285
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Blepharospasm, Bradykinesia, Babinski sign, Abnormal pyramidal sign, Parkinsonism, Rigidi... OMIM:234200
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Hypoxemia, Neonatal death, Tachypnea, Cough, Death in infancy, Neona... OMIM:610921
Manganese Poisoning
Hypertonia, Bradykinesia, Cogwheel rigidity, Postural tremor, Abnormality of extrapyramidal motor... ORPHA:306682
Cockayne Syndrome Type 3
Kyphosis, Unilateral renal agenesis, Intention tremor, Hydroureter, Scoliosis, Urinary retention,... ORPHA:90324
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Hydronephrosis OMIM:618265
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Scoliosis, Respiratory failure, Small cervical vertebral bodies, Progr... OMIM:135100
Combined Oxidative Phosphorylation Deficiency 4
Spasticity, Respiratory failure, Death in infancy, Opisthotonus OMIM:610678
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Unilateral renal dysplasia, Congenital megaureter, Abnormal renal collecting system morphology, H... ORPHA:280633
Faciocardiorenal Syndrome
Hydroureter, Horseshoe kidney, Scoliosis OMIM:227280
Joubert Syndrome 20
Respiratory insufficiency, Renal cyst, Oculomotor apraxia OMIM:614970
Autosomal Dominant Progressive External Ophthalmoplegia
Hypertonia, Ataxia, Bradykinesia, Resting tremor, Respiratory insufficiency, Nocturia, Rigidity, ... ORPHA:254892
Scedosporiosis
Sinusitis, Pleural empyema, Abnormal renal morphology, Cough, Pneumonia, Abnormal respiratory sys... ORPHA:449280
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Hemivertebrae, Abnormal form of the vertebral bodies, Dyspnea, Respiratory ... ORPHA:2759
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Idiopathic Pulmonary Hemosiderosis
Crackles, Cough, Restrictive ventilatory defect, Glomerulonephritis, Dyspnea, Respiratory failure ORPHA:99931
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Reduced for... OMIM:610913
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Renal dysplasia, Renal cyst, Spasticity, Hydronephrosis OMIM:615287
Raine Syndrome
Hydroureter, Neonatal death, Hydronephrosis, Death in infancy OMIM:259775
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Butterfly vertebrae, Hypospadias, Hydroureter, Neonatal death, Dilatation of the renal pelvis, Hy... OMIM:265380
Muscular Dystrophy, Duchenne Type
Scoliosis, Hyperlordosis, Respiratory failure, Restrictive ventilatory defect, Hypoventilation, R... OMIM:310200
Diabetes Insipidus, Neurohypophyseal, X-Linked
Polyuria, Hydronephrosis OMIM:304900
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Hypertonia, Abnormally ossified vertebrae, Abnormality of the upper urinary tract, Hydroureter, A... ORPHA:2636
Renal Agenesis
Renal agenesis, Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal age... ORPHA:411709
Ellis Van Creveld Syndrome
Renal hypoplasia/aplasia, Abnormality of the kidney, Hydroureter, Abnormality of the ureter, Hypo... ORPHA:289
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthinuria, Hematuria, Acute kidney injury, Hy... ORPHA:3467
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Apnea, Ataxia, Hypertonia, Renal tubular acidosis, Abnormal renal tubule mo... ORPHA:70474
Recombinant Chromosome 8 Syndrome
Hypertonia, Scoliosis, Hydronephrosis OMIM:179613
Joubert Syndrome 37
Oculomotor apraxia, Lumbar hyperlordosis, Hydronephrosis, Micropenis OMIM:619185
Simpson-Golabi-Behmel Syndrome
Vertebral segmentation defect, Hypoplasia of penis, Hypospadias, Hydroureter, Nephroblastoma, Ure... ORPHA:373
Koolen-De Vries Syndrome
Vertebral segmentation defect, Kyphosis, Hypospadias, Renal duplication, Ureteral duplication, Sc... ORPHA:96169
Neuroferritinopathy
Blepharospasm, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Chorea, Involuntary mov... ORPHA:157846
Bor Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Renal... ORPHA:107
22Q11.2 Duplication Syndrome
Motor stereotypy, Scoliosis, Urethral stenosis, Hydronephrosis, Displacement of the urethral meatus ORPHA:1727
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Hyperlordosis, Polycystic kidney dysplasia, Cardiorespiratory arrest, ... ORPHA:26791
Diphallia
Distal urethral duplication, Butterfly vertebrae, Hypospadias, Hemivertebrae, Ureteral duplicatio... ORPHA:227
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Nocturnal hypoventilation, Respiratory failure, Reduced vital capacity, Frequent falls OMIM:603689
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Central sleep apnea, Congenital megaureter, Abnormality of the urinary system, Scoliosis, Hyperca... ORPHA:369837
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory insufficiency, Respiratory failure, Hypercapnia OMIM:267480
Kufor-Rakeb Syndrome
Hypertonia, Blepharospasm, Bradykinesia, Myoclonus, Babinski sign, Parkinsonism, Abnormal pyramid... ORPHA:306674
Melnick-Needles Syndrome
Respiratory insufficiency, Scoliosis, Anisospondyly, Hydronephrosis, Vesicoureteral reflux ORPHA:2484
Triosephosphate Isomerase Deficiency
Respiratory distress, Kyphosis, Respiratory insufficiency, Death in adolescence, Tremor, Death in... OMIM:615512
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hypertonia, Kyphosis, Unilateral renal agenesis, Hydroureter, Bilateral renal agenesis, Scoliosis OMIM:619194
Parkinson Disease 20, Early-Onset
Bradykinesia, Rigidity, Parkinsonism, Eyelid apraxia, Tremor OMIM:615530
Trisomy 13
Kyphosis, Abnormality of the ureter, Scoliosis, Multiple renal cysts, Hydronephrosis, Displacemen... ORPHA:3378
Niemann-Pick Disease, Type C2
Motor stereotypy, Ataxia, Cataplexy, Respiratory insufficiency, Death in childhood, Death in infa... OMIM:607625
Neurodegeneration With Brain Iron Accumulation 2B
Hypertonia, Bradykinesia, Dysmetria, Intention tremor, Dysdiadochokinesis, Babinski sign, Chorea,... OMIM:610217
Proximal Spinal Muscular Atrophy
Scoliosis, Tongue fasciculations, Recurrent aspiration pneumonia, Thoracic kyphosis, Restrictive ... ORPHA:70
Acute Lung Injury
Respiratory distress, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure ORPHA:178320
Epidermolysis Bullosa Simplex With Pyloric Atresia
Aplasia of the bladder, Ureterocele, Abnormality of the urinary system, Abnormality of the urethr... ORPHA:158684
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Ataxia, Death in childhood, Bradypnea, Rigidity, Tetraparesis, Tremor, Respiratory f... OMIM:617186
White-Kernohan Syndrome
Hydroureter, Horseshoe kidney, Hydronephrosis, Obstructive sleep apnea OMIM:619426
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Hypospadias, Abnormality of the ureter, Hyperlordosis, Fused cervical vertebrae ORPHA:2522
X-Linked Intellectual Disability Due To Gria3 Mutations
Kyphosis, Micropenis, Myoclonus, Babinski sign, Scoliosis, Spasticity, Hydronephrosis ORPHA:364028
Amyotrophic Lateral Sclerosis
Abnormal respiratory system physiology, Spasticity, Paralysis, Dyspnea, Respiratory failure ORPHA:803
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure OMIM:616867
Congenital Multicore Myopathy With External Ophthalmoplegia
Micropenis, Scoliosis, Pneumonia, Abnormal respiratory system physiology, Respiratory failure ORPHA:98905
Leigh Syndrome
Ataxia, Chorea, Athetosis, Spasticity, Respiratory failure, Renal tubular dysfunction, Nephrotic ... ORPHA:506
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, Ri... OMIM:157640
9Q21.13 Microdeletion Syndrome
Vertebral segmentation defect, Scoliosis, Hydronephrosis ORPHA:531151
Meckel Syndrome 12
Renal agenesis, Ureteral hypoplasia, Renal hypoplasia OMIM:616258
Microcephaly 26, Primary, Autosomal Dominant
Scoliosis, Stereotypical hand wringing, Recurrent pneumonia, Hydronephrosis, Spastic tetraparesis OMIM:619179
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral hypoplasia, Bladder trabeculation, Ureteral duplication, Renal dysplasia, Tremor, Choreo... OMIM:614080
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Absence of renal corticomedullary differentiation, Micropenis, Unilateral renal agenesis, Renal a... OMIM:617641
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... OMIM:618695
Adult-Onset Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Bradykinesia, Myoclo... ORPHA:199351
Hardikar Syndrome
Hydroureter, Recurrent urinary tract infections, Hypoplasia of the bladder, Bladder exstrophy, Th... OMIM:301068
Trisomy 20P
Vertebral segmentation defect, Kyphosis, Abnormality of the kidney, Abnormality of the ureter, Hy... ORPHA:261318
Acute Interstitial Pneumonia
Hypoxemia, Nonproductive cough, Crackles, Decreased DLCO, Tachypnea, Pleural effusion, Bronchiect... ORPHA:79126
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Myoglobinuria, Respiratory failure, Lethargy OMIM:609015
Webb-Dattani Syndrome
Spasticity, Vesicoureteral reflux, Neurogenic bladder, Hydronephrosis OMIM:615926
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Tachypnea, Acute kidney injury, Pleural effusion, Decreased urine output, Respiratory ... ORPHA:542323
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Bladder diverticulum, Ureterocele, Micropenis, Renal agenesis, Hydroureter, Renal dysplasia, Dupl... OMIM:129900
Infant Acute Respiratory Distress Syndrome
Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring ORPHA:70587
Schinzel-Giedion Midface Retraction Syndrome
Opisthotonus, Micropenis, Hypospadias, Hydroureter, Ureteral stenosis, Hydronephrosis OMIM:269150
Desmoid Tumor
Abnormality of the upper urinary tract, Hydronephrosis ORPHA:873
Endove Syndrome, Limb-Brain Type
Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis OMIM:619218
Chand Syndrome
Hydroureter, Ataxia ORPHA:1401
Progressive Supranuclear Palsy
Blepharospasm, Tremor, Rigidity, Bradykinesia ORPHA:683
Tetraploidy
Renal hypoplasia/aplasia, Hydronephrosis ORPHA:3305
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hydroureter OMIM:610759
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure ORPHA:70578
Ritscher-Schinzel Syndrome 1
Hypospadias, Hemivertebrae, Hydronephrosis OMIM:220210
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis OMIM:619217
Distal Trisomy 6P
Abnormality of the urinary system, Renal hypoplasia, Hydronephrosis ORPHA:1745
Vici Syndrome
Ureteral atresia, Renal tubular acidosis, Death in infancy ORPHA:1493
Netherton Syndrome
Asthma, Aminoaciduria, Ectopic kidney, Hydronephrosis, Emphysema ORPHA:634
Zaki Syndrome
Hypertonia, Renal agenesis, Scoliosis, Hydronephrosis, Spastic gait OMIM:619648
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hemivertebrae, Ureteral triplication, Hydronephrosis, Scoliosis OMIM:104350
Noonan Syndrome 4
Ureteral duplication, Hydronephrosis, Scoliosis OMIM:610733
Igg4-Related Kidney Disease
Chronic kidney disease, Abnormal ureter morphology, Nephrotic range proteinuria, Urethritis, Inte... ORPHA:449395
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Spastic diplegia, Hydronephrosis OMIM:300048
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Nonproductive cough, Respiratory insufficiency, Hematuria, Calci... ORPHA:60025
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Bladder diverticulum OMIM:223330
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis OMIM:613735
Distal Tetrasomy 15Q
Kyphosis, Abnormality of the kidney, Nephroblastoma, Scoliosis, Polycystic kidney dysplasia, Hors... ORPHA:314588
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypertonia, Hypoplasia of penis, Hydronephrosis ORPHA:2083
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory insufficiency, Respiratory failure OMIM:273730
Trisomy 17P
Hypertonia, Hypoplasia of penis, Scoliosis, Polycystic kidney dysplasia, Urethral stenosis, Hydro... ORPHA:261290
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Kyphosis, Tracheomalacia, Respiratory insufficiency, Scoliosi... ORPHA:140
Stankiewicz-Isidor Syndrome
Hypospadias, Ureteral duplication, Micropenis OMIM:617516
3C Syndrome
Kyphosis, Hypoplasia of penis, Hypospadias, Hemivertebrae, Scoliosis, Death in infancy, Hydroneph... ORPHA:7
Kleefstra Syndrome
Motor stereotypy, Hypoplasia of penis, Micropenis, Tracheomalacia, Hypospadias, Scoliosis, Renal ... ORPHA:261494
Immunodeficiency 54
Respiratory insufficiency, Respiratory failure OMIM:609981
Micro Syndrome
Kyphosis, Hypoplasia of penis, Scoliosis, Spasticity, Abnormal localization of kidney, Hydronephr... ORPHA:2510
Severe Congenital Nemaline Myopathy
Hypospadias, Respiratory failure, Micropenis ORPHA:171430
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Thoracic Dysplasia-Hydrocephalus Syndrome
Ataxia, Respiratory failure ORPHA:1861
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Kyphosis, Hypospadias, Abnormality of the ureter, Respiratory insu... ORPHA:2311
Boutonneuse Fever
Respiratory failure, Renal insufficiency ORPHA:83313
Autosomal Recessive Spastic Paraplegia Type 20
Dysuria, Spastic paraparesis, Ankle clonus, Babinski sign, Spastic dysarthria, Speech apraxia, Sp... ORPHA:101000
Fanconi Anemia
Renal hypoplasia/aplasia, Abnormal preputium morphology, Hypospadias, Abnormality of the urinary ... ORPHA:84
Primary Hyperoxaluria Type 2
Nephrolithiasis, Ureteral obstruction, Recurrent urinary tract infections, Renal insufficiency, H... ORPHA:93599
Penoscrotal Transposition
Renal agenesis, Hypospadias, Abnormality of the ureter, Abnormality of the urethra, Renal dysplas... ORPHA:2842
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Hypospadias, Platyspondyly, Pleural effusion, Hydronephrosis OMIM:616897
Intellectual Disability, Buenos-Aires Type
Spastic gait, Cuboid-shaped thoracolumbar vertebral bodies, Hydronephrosis ORPHA:3079
Young-Onset Parkinson Disease
Tremor, Rigidity, Spasticity, Bradykinesia ORPHA:2828
Riddle Syndrome
Ataxia, Clumsiness, Recurrent sinusitis, Chronic sinusitis, Recurrent pneumonia, Restrictive vent... ORPHA:420741
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Hypoplasia of the bladder, Multicy... OMIM:614527
Phosphoribosylpyrophosphate Synthetase Superactivity
Ataxia, Hypospadias, Hyperuricosuria, Urolithiasis, Death in childhood, Renal insufficiency, Uric... OMIM:300661
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Hydronephrosis OMIM:609757
Zellweger Syndrome
Hypospadias, Respiratory insufficiency, Multicystic kidney dysplasia, Death in infancy, Hydroneph... ORPHA:912
Vacterl/Vater Association
Vertebral segmentation defect, Hypoplasia of penis, Renal agenesis, Hypospadias, Abnormality of t... ORPHA:887
Developmental Delay With Or Without Dysmorphic Facies And Autism
Laryngotracheomalacia, Scoliosis, Renal cyst, Renal hypoplasia, Hydronephrosis, Vesicoureteral re... OMIM:618454
Otopalatodigital Syndrome, Type Ii
Hypospadias, Respiratory insufficiency, Platyspondyly, Respiratory failure, Hydronephrosis, Still... OMIM:304120
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Neonatal asphyxia, Multiple bladder diverticula, Proteinuria ORPHA:2728
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Oligosacchariduria, Respiratory insufficiency, Respiratory failure requirin... ORPHA:308552
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Motor stereotypy, Kyphosis, Kyphoscoliosis, Micropenis, Renal agenesis, Hypospadias, Hemivertebra... OMIM:301040
Bladder Exstrophy
Hypoplasia of penis, Abnormality of the ureter, Recurrent urinary tract infections, Bladder exstr... ORPHA:93930
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Limb hypertonia, Hydronephrosis ORPHA:488613
Kury-Isidor Syndrome
Scoliosis, Hydronephrosis OMIM:619762
Infantile Krabbe Disease
Respiratory distress, Opisthotonus, Ankle clonus, Decerebrate rigidity, Spastic diplegia, Myoclon... ORPHA:206436
Peripartum Cardiomyopathy
Asthma, Paroxysmal dyspnea, Crackles, Orthopnea, Dyspnea, Exertional dyspnea, Pulmonary arterial ... ORPHA:563
Mitochondrial Complex I Deficiency, Nuclear Type 1
Apnea, Ataxia, 3-hydroxydicarboxylic aciduria, Hypospadias, Respiratory insufficiency, Babinski s... OMIM:252010
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Supernumerary vertebrae, Hemivertebrae, Scoliosis, Hydronephrosis, Block verteb... OMIM:271520
Chromosome 2P16.1-P15 Deletion Syndrome
Kyphoscoliosis, Spasticity, Hydronephrosis, Micropenis OMIM:612513
Coffin-Siris Syndrome 1
Kyphosis, Hypospadias, Hydroureter, Scoliosis, Spina bifida occulta, Renal hypoplasia, Gait ataxi... OMIM:135900
Renal Dysplasia-Limb Defects Syndrome
Respiratory distress, Neonatal death, Renal dysplasia, Renal hypoplasia, Pneumothorax, Respirator... OMIM:266910
Primary Ciliary Dyskinesia
Airway obstruction, Wheezing, Chronic rhinitis, Chronic sinusitis, Productive cough, Neonatal res... ORPHA:244
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Butterfly vertebrae, Micropenis, Hypospadias, Duplicated collecting system, Hydronephrosis, Vesic... OMIM:301056
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Hypertonia, Exaggerated startle response, Clonus, Respiratory failure OMIM:617301
Pelizaeus-Merzbacher Disease, Connatal Form
Titubation, Ataxia, Lower limb spasticity, Respiratory failure ORPHA:280210
Musculocontractural Ehlers-Danlos Syndrome
Nephrolithiasis, Kyphoscoliosis, Scoliosis, Functional abnormality of the bladder, Horseshoe kidn... ORPHA:2953
Igg4-Related Aortitis
Asthma, Hydronephrosis ORPHA:449400
Renal-Hepatic-Pancreatic Dysplasia 1
Neonatal death, Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficienc... OMIM:208540
Toluene Embryopathy
Abnormal localization of kidney, Hydronephrosis ORPHA:1920
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertonia, Action tremor, Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Dysdi... ORPHA:309854
Combined Oxidative Phosphorylation Deficiency 37
Respiratory insufficiency, 3-Methylglutaconic aciduria, Respiratory failure, Spasticity OMIM:618329
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Kyphosis, Abnormality of the upper urinary tract, Hydroureter, Platyspondyly, Abnormality of the ... ORPHA:2273
Duane-Radial Ray Syndrome
Renal agenesis, Crossed fused renal ectopia, Scoliosis, Spina bifida occulta, Fused cervical vert... OMIM:607323
17Q12 Microdeletion Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Renal insufficiency, Ureterocele ORPHA:261265
8P Inverted Duplication/Deletion Syndrome
Hypertonia, Micropenis, Abnormality of the urinary system, Scoliosis, Progressive spastic paraple... ORPHA:96092
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Bladder diverticulum, Renal hypoplasia/aplasia, Crossed fused rena... ORPHA:959
Cutis Laxa, Autosomal Recessive, Type Ic
Bladder diverticulum, Emphysema, Hydronephrosis, Tracheomalacia OMIM:613177
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Chronic kidney disease, Decreased glomerular filtration rate, Epistaxis, Gl... ORPHA:340
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Asthma, Platyspondyly, Scoliosis, Moderate albuminuria, Hydronephrosis OMIM:619269
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Ureteral duplication, Duplication of renal pelvis, Hand tremor ORPHA:457212
Urban-Rogers-Meyer Syndrome
Kyphosis, Abnormality of the ureter, Hypoplasia of penis ORPHA:3409
Autosomal Recessive Cutis Laxa Type 1
Urethral diverticulum, Recurrent urinary tract infections, Respiratory insufficiency, Recurrent p... ORPHA:90349
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Paroxysmal dyspnea, Respiratory failure ORPHA:444013
Khan-Khan-Katsanis Syndrome
Hypertonia, Scoliosis, Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux OMIM:618460
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia, Horseshoe kidney, Hydronephrosis, Vesicoureteral reflux ORPHA:93260
Cutis Laxa, Autosomal Recessive, Type Ia
Bladder diverticulum, Emphysema OMIM:219100
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication OMIM:270420
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Aminoaciduria, Hydronephrosis OMIM:617913
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Nephrotic syndrome, Hematuria, Membranous nephropathy, Renovascular hypertension, Ureter... ORPHA:49041
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Babinski sign, Frequent falls, Respiratory failure, Lethargy ORPHA:746
Suleiman-El-Hattab Syndrome
Hydronephrosis OMIM:618950
X-Linked Dominant Chondrodysplasia Punctata
Kyphoscoliosis, Hypoplastic cervical vertebrae, Hydronephrosis, Abnormally ossified vertebrae ORPHA:35173
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure, Spastic tetraplegia, Head titubation ORPHA:3240
Baller-Gerold Syndrome
Abnormality of the ureter, Scoliosis, Abnormal localization of kidney, Hydronephrosis, Vesicouret... ORPHA:1225
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Neonatal respiratory distress, Hydronephrosis ORPHA:457193
Chondrodysplasia Punctata 2, X-Linked Dominant
Kyphoscoliosis, Hemivertebrae, Scoliosis, Punctate vertebral calcifications, Hydronephrosis OMIM:302960
Occipital Horn Syndrome
Bladder diverticulum, Kyphosis, Platyspondyly, Ureteral obstruction, Hydronephrosis OMIM:304150
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Bladder diverticulum, Kypho... OMIM:225400
Hyperphosphatasia-Intellectual Disability Syndrome
Ataxia, Myoclonus, Scoliosis, Hydronephrosis, Oculomotor apraxia ORPHA:247262
Hennekam Lymphangiectasia-Lymphedema Syndrome 1