Gene Summary

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

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
abnormal embryo size Dis3l2em1(IMPC)Bay HOM E18.5 0.00
abnormal tail morphology Dis3l2em1(IMPC)Bay HOM E18.5 0.00
hemorrhage Dis3l2em1(IMPC)Bay HOM E18.5 0.00
increased body length Dis3l2em1(IMPC)Bay HET Early adult 3.92×10-06
preweaning lethality, complete penetrance Dis3l2em1(IMPC)Bay HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

VIP of right eye

17 Images

Eye Morphology

VIP of right fundus

17 Images

Eye Morphology

VIP of left fundus

17 Images

MicroCT E18.5

Embryo reconstruction

7 Images

Eye Morphology

VIP of left eye

17 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
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 Similarity of
phenotypes
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