Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Hydroureter, Respiratory failure, Hypertonia, Myoclonus, Hydronephrosis |
OMIM:618240 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Bradykinesia |
OMIM:605909 |
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Urinary urgency, Lower limb spasticity, Bradykinesia |
OMIM:618878 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis |
OMIM:619362 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Urethral valve, Hydroureter, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Lower limb spasticity, Rigidity, Babinski sign, Urinary urgency, Bradykinesia, Lower limb hyperto... |
ORPHA:100984 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Urinary urgency, Bradykine... |
OMIM:618418 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi... |
ORPHA:105 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Babinski sign, Parkinsonism with fa... |
OMIM:128230 |
Vesicoureteral Reflux 3 |
|
Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Hydroureter, Grade III vesico... |
OMIM:613674 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Urinary incontinence, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykines... |
OMIM:213600 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Ataxia, Chorea, Bradykinesia, Death in childhood, Lethargy |
OMIM:618683 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Neonatal asphyxia, Hemiparesis, Bradykinesia, Scoliosis |
ORPHA:306669 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Apnea, Rigidity, Respiratory insufficiency, Respiratory failure, Hypertonia |
OMIM:613869 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyramidal sign, Spastic tetraplegia... |
OMIM:617225 |
Parkinson Disease 5, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:613643 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Scoliosis, Death in adoles... |
OMIM:300717 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal s... |
ORPHA:240103 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Scoliosis, Spasticity |
ORPHA:521406 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Recurrent urinary tract infections, Fetal pyelectasis, Megacystis, Nephrolithiasis |
OMIM:619365 |
Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia |
ORPHA:210571 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Megacystis, Hydronephrosis |
OMIM:619431 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Bilateral renal agenesis |
OMIM:619887 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... |
ORPHA:98762 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis |
OMIM:249210 |
Spinocerebellar Ataxia 17 |
|
Ataxia, Urinary incontinence, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ataxia... |
OMIM:607136 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory insufficiency, Respiratory failure, Hypertonia |
OMIM:611722 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Spinocerebellar Ataxia 10 |
|
Incoordination, Urinary incontinence, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ata... |
OMIM:603516 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Tremor, Dyspnea, Respiratory failure, Limb fa... |
ORPHA:90117 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis |
OMIM:274265 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Lumbar hyperlordosis, Ankle clonus, Hemiparesis, Respiratory failure, Tongue fasciculations, Tetr... |
OMIM:600561 |
Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Tongue fasciculations, Respiratory insufficiency, Death in childhood |
OMIM:253300 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:600116 |
Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infection... |
ORPHA:2970 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Parkinsonism, Urinary incontinence, Rigidity, Babinski sign, Respiratory insufficiency, Hand trem... |
ORPHA:289560 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Incoordination, Hypospadias, Ataxia, Involun... |
ORPHA:209905 |
Pontocerebellar Hypoplasia, Type 1C |
|
Spastic tetraparesis, Respiratory insufficiency, Respiratory failure, Tongue fasciculations, Deat... |
OMIM:616081 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Rigidity, Dysdiadochokinesis, Slurred speech, Bradykinesia |
OMIM:609161 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... |
OMIM:613135 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Dysdiadochokinesis, Bradykinesia |
ORPHA:228169 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Death in infancy, Vertebral fusion, Unilateral renal agenesis, Ureteral atresia, Vertebral segmen... |
OMIM:618845 |
Dystonia 16 |
|
Postural tremor, Involuntary movements, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Retr... |
OMIM:612067 |
Delayed Encephalopathy Due To Carbon Monoxide Poisoning |
|
Rigidity, Bradykinesia |
ORPHA:306686 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the bladder |
ORPHA:2547 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Parkinsonism with favo... |
ORPHA:314632 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Bradykinesia, Apraxia, Spasticity, Action ... |
OMIM:300423 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Bradykinesia, Abnormal pyramidal sign, Spastic gait, Spastic tetraparesis |
OMIM:619052 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Bradykinesia, Babinski sign, Lacticaciduria |
OMIM:619063 |
Leber Optic Atrophy And Dystonia |
|
Bradykinesia, Athetosis, Scoliosis, Spasticity, Upper motor neuron dysfunction |
OMIM:500001 |
Parkinsonism With Polyneuropathy |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:619279 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Paralysis |
ORPHA:132 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Spasticity, L... |
OMIM:615528 |
Parkinson Disease 22, Autosomal Dominant |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:616710 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Hydroureter, Nephrolithiasis |
OMIM:617219 |
Spinocerebellar Ataxia 2 |
|
Ataxia, Parkinsonism, Urinary incontinence, Postural tremor, Rigidity, Babinski sign, Dysmetria, ... |
OMIM:183090 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertonia |
OMIM:618824 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Rigidity, Tremor, Bradykinesia, Parkinsonism with favorable response to dop... |
ORPHA:240085 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Central apnea, Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski sign, Gait a... |
OMIM:615157 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
Vacterl Association With Hydrocephalus |
|
Renal hypoplasia, Respiratory insufficiency, Respiratory failure, Stillbirth, Abnormal vertebral ... |
OMIM:276950 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
ORPHA:306692 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Parkinsonism, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, Bradykinesia |
OMIM:618317 |
Dystonia 12 |
|
Tremor, Torticollis, Bradykinesia, Parkinsonism |
OMIM:128235 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Kyphosis, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Scoliosis, Spa... |
OMIM:617435 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormality of the ureter, Hypospadias, Respiratory insufficiency |
ORPHA:2487 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm... |
ORPHA:101150 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Lower limb spasticity, Neurogenic bladder, Detrusor sphincter dyssynergia, Urinary incontinence, ... |
ORPHA:466722 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Incoordination, Ataxia, Dysmetria, Gait ataxia, Urinary urgency, Hemiparesis, Bradykinesia, Trunc... |
OMIM:601338 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
Adrenomyodystrophy |
|
Abnormality of the urinary system, Megacystis |
ORPHA:977 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia |
ORPHA:71517 |
Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy |
OMIM:600057 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Death in infancy, Spastic tetraparesis, Lactic... |
OMIM:605711 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Apnea, Parkinsonism, Ataxia, Kyphoscoliosis, Tremor, Babinski sign, Spastic parap... |
OMIM:300055 |
Huntington Disease |
|
Rigidity, Chorea, Bradykinesia, Gait ataxia |
OMIM:143100 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Tremor, Clumsiness, Eyelid myoclonus, Respirato... |
ORPHA:2590 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Macdermot-Winter Syndrome |
|
Death in infancy, Hydronephrosis |
OMIM:247990 |
Corticobasal Syndrome |
|
Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apraxia, Brad... |
ORPHA:454887 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Respiratory failure, Hypertonia, Myoclonus, Spasticity |
OMIM:225753 |
Prune Belly Syndrome |
|
Hydroureter, Congenital posterior urethral valve, Hydronephrosis |
OMIM:100100 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure, Functional abnormality of the bladder, Paraplegia |
ORPHA:71211 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Urinary incontinence, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetos... |
OMIM:618877 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Diaphragmatic paralysis, Respiratory insufficiency, Restrictive ventilatory... |
OMIM:614399 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea, Respiratory failure, Cough, Tubulointerstitial fibrosis |
OMIM:263000 |
Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Abnormality of the upper urinary tract |
ORPHA:3266 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Limb myoclonus |
OMIM:619862 |
Infantile Dystonia-Parkinsonism |
|
Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Hypertonia, Limb hyp... |
ORPHA:238455 |
Intellectual Developmental Disorder, X-Linked 110 |
|
Bradykinesia |
OMIM:301095 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Hypospadias, Respiratory failure, Death in childhood, Neonatal death |
OMIM:619334 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Machado-Joseph Disease |
|
Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign, Limb ataxia, Bradyk... |
OMIM:109150 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines... |
ORPHA:391411 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Ataxia, Tremor, Hydronephrosis |
OMIM:222300 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Tremor, Bradykinesia, Ataxia, Rigidity |
OMIM:617836 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Blepharospasm, Bradykinesia, Parkinsonism with favorab... |
OMIM:606324 |
Juvenile Huntington Disease |
|
Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia, Myoclonus |
ORPHA:248111 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Resp... |
OMIM:614922 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis, Tremor, Rigidity,... |
ORPHA:99750 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... |
ORPHA:266 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
Hyperekplexia 4 |
|
Respiratory failure, Hypertonia, Myoclonus, Kyphoscoliosis |
OMIM:618011 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Familial Visceral Myopathy |
|
Vesicoureteral reflux, Hydroureter, Megacystis |
ORPHA:2604 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Bradykinesia, Hypertonia, Parkinsonism, Limb hypertonia |
OMIM:617384 |
Perry Syndrome |
|
Hypoventilation, Central hypoventilation, Parkinsonism, Tremor, Rigidity, Respiratory insufficien... |
OMIM:168605 |
Spinocerebellar Ataxia Type 8 |
|
Ataxia, Urinary incontinence, Rigidity, Limb ataxia, Gait ataxia, Spastic dysarthria, Bradykinesi... |
ORPHA:98760 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Renal insufficiency, Lacticaciduria, Aminoaciduria, Respiratory failure, Lethargy |
OMIM:619386 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Bradykinesia, Action tremor |
OMIM:606438 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Megacystis, Polyuria |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Megacystis, Polyuria |
OMIM:304800 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Parkinsonism, Urinary incontinence, Action tremor, Dysmetria, Ga... |
OMIM:300623 |
Multiple System Atrophy |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, St... |
ORPHA:102 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Anuria, Megacystis, Pyelonephritis, Elevated ... |
OMIM:619351 |
Congenital Myopathy 19 |
|
Respiratory insufficiency due to muscle weakness, Renal atrophy, Respiratory insufficiency, Scoli... |
OMIM:618578 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Parkinsonism, Rigidity, Bradykinesia, Apraxia, Spasticity |
OMIM:221820 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Respiratory failure, Ataxia |
OMIM:618637 |
Cloacal Exstrophy |
|
Hypoplasia of penis, Hydroureter, Ectopic kidney, Renal hypoplasia/aplasia, Hemivertebrae, Horses... |
ORPHA:93929 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Respiratory in... |
OMIM:602088 |
Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Chorea, Slurred speech, Dysmetria, Bradykinesia, Progressive cerebellar ataxia, ... |
ORPHA:98755 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Ataxia, Apnea, Rigidity, Respiratory insufficiency, Respiratory failure, Neonatal death, Spasticity |
OMIM:610127 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Limb hypertonia |
OMIM:261640 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Ataxia, Babinski sign, Hypercalciuria, Renal cyst, Nephrocalcinos... |
OMIM:615398 |
Codas Syndrome |
|
Coronal cleft vertebrae, Hydroureter, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:1458 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Poor gross motor coordination, Respiratory insufficiency, Respiratory failure, Scoliosis, Micropenis |
ORPHA:370968 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Rigidity, Respiratory failure, Myoclonus, Aspiration pneumonia |
OMIM:619057 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Thoracolumbar scoliosis, Kyphosis, Respiratory insufficiency, Platyspondyly, Respiratory failure |
OMIM:313420 |
Spinocerebellar Ataxia Type 13 |
|
Torticollis, Urinary incontinence, Limb ataxia, Clumsiness, Urinary urgency, Titubation, Gait ata... |
ORPHA:98768 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Multiple System Atrophy, Parkinsonian Type |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, St... |
ORPHA:98933 |
Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
Hepatic Veno-Occlusive Disease |
|
Renal insufficiency, Respiratory failure |
ORPHA:890 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Respiratory insufficiency due to muscle weakness, Kyphosis, Respiratory failure, Scoliosis, Neona... |
OMIM:611890 |
Adult-Onset Nemaline Myopathy |
|
Respiratory insufficiency due to muscle weakness, Poor fine motor coordination, Reduced vital cap... |
ORPHA:171442 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Rigidity, Bradykinesia, Spastic tetraplegia, Spastic paraparesis |
OMIM:615643 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Hand tremor, Blepharospasm, Bradykinesia, Myoclonus, Aspiration pneumonia... |
ORPHA:53351 |
Alg1-Cdg |
|
Renal insufficiency, Abnormality of the kidney, Kyphosis, Nephrotic syndrome, Respiratory failure... |
ORPHA:79327 |
Childhood-Onset Nemaline Myopathy |
|
Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Clumsiness, Poor fine m... |
ORPHA:171439 |
Postencephalitic Parkinsonism |
|
Resting tremor, Involuntary movements, Rigidity, Kyphosis, Babinski sign, Abnormal pyramidal sign... |
ORPHA:97349 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Bradykinesia, Slowed slurred speech, Nephrolithiasis |
OMIM:619827 |
Megabladder, Congenital |
|
Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease |
OMIM:618719 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... |
OMIM:606693 |
Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Urinary incontinence, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxi... |
ORPHA:225147 |
Multiple System Atrophy, Cerebellar Type |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Limb ataxia, Ga... |
ORPHA:227510 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Urinary incontinence, Urinary urgency, Stridor, Respiratory failure, Scoliosis, Intercostal muscl... |
OMIM:606071 |
Visceral Myopathy 1 |
|
Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis |
OMIM:155310 |
Huntington Disease-Like 1 |
|
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clumsiness, Gait ataxia... |
ORPHA:157941 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... |
OMIM:613496 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia, Hypertonia, Hyperk... |
ORPHA:13 |
X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, Spasticity, Hydronephrosis, Choreoathetosis |
ORPHA:85285 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Sp... |
OMIM:618060 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Hyperlordosis, Renal hypoplasia/aplasia, Kyphosis, Scoliosis, Hydroneph... |
ORPHA:568 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Tremor, Urinary urgency, Bradykinesia |
OMIM:168600 |
Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia, Bifid sacrum, Vertebra... |
ORPHA:1756 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Pneumothorax, Abnormal pyramidal sign, Renal cyst, Opisthotonus, Nephrocalci... |
ORPHA:445038 |
Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure |
OMIM:615348 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Stage 5 chronic kidney disease, Renal cyst, Neonatal death, Hydron... |
OMIM:613390 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Parkinsonian-Pyramidal Syndrome |
|
Neurogenic bladder, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia,... |
ORPHA:171695 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea, Spasticity |
OMIM:616277 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Respiratory distress, Multicystic kidney dysplasia, Hydroureter, Recurrent ur... |
ORPHA:79404 |
Primary Progressive Freezing Gait |
|
Postural tremor, Urinary incontinence, Clonus, Rigidity, Babinski sign, Bradykinesia, Frequent falls |
ORPHA:75567 |
Cln3 Disease |
|
Bradykinesia, Extrapyramidal muscular rigidity, Urinary bladder sphincter dysfunction, Ataxia |
ORPHA:228346 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Intenti... |
OMIM:619725 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia |
OMIM:619911 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Lacticaciduria, Respiratory insufficiency, Methy... |
OMIM:245400 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos... |
ORPHA:223 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Ataxia, Tachypnea, Respiratory insufficiency, Respiratory... |
OMIM:614299 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br... |
OMIM:606159 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor, Rigidity, Hand ... |
OMIM:612953 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Visceral Myopathy 2 |
|
Megacystis |
OMIM:619350 |
Czeizel-Losonci Syndrome |
|
Thoracolumbar scoliosis, Ureteral agenesis, Abnormality of the urinary system, Congenital megaure... |
ORPHA:2437 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Tremor, Rigidity, Bradykinesia, Limb hypertonia |
ORPHA:70594 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Parkinsonism, Respiratory insufficiency due to muscle weakness, Rigidity, Babinski sign, Limb ata... |
OMIM:258450 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
Hypermanganesemia With Dystonia 2 |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Clumsiness, Opisthotonus, Ankle clonus, Bradyk... |
OMIM:617013 |
Congenital Myopathy 14 |
|
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea |
OMIM:618414 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia |
ORPHA:36387 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Ataxia, Cogwheel rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... |
ORPHA:254886 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Kyphosis, Apnea, Hydronephrosis, Scoliosis |
OMIM:619797 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure, Tongue fasciculations, Fasciculations |
OMIM:613435 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Parkinsonism with favora... |
OMIM:311510 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... |
OMIM:604292 |
Dravet Syndrome |
|
Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina... |
ORPHA:33069 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... |
OMIM:607060 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Bradykinesia, Myoclonus |
OMIM:168601 |
Noonan Syndrome 9 |
|
Hydroureter |
OMIM:616559 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Kyphosis, Nephrolithiasis, Respiratory... |
ORPHA:352447 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... |
OMIM:137440 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Clumsiness, Bradykinesia, Myoclonus... |
OMIM:617854 |
Huntington Disease |
|
Clonus, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Bradykinesia, Poor fi... |
ORPHA:399 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Lower limb spasticity, Babinski sign, Ankle clonus, Respiratory failure, Fasciculations, Tetrapar... |
OMIM:613954 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Spasticity, Opisthotonus, Respiratory... |
OMIM:619847 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Respiratory failure, Hypertonia, Myoclonus... |
OMIM:616505 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Urinary incontinence, Tremor, Rigidity, Babinski sign, Urinary urgency, Bra... |
OMIM:146500 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Torticollis, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradyki... |
ORPHA:98808 |
Image Syndrome |
|
Hypospadias, Hydronephrosis |
ORPHA:85173 |
Cat-Eye Syndrome |
|
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
Hypermanganesemia With Dystonia 1 |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality of extrap... |
OMIM:613280 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Apneic episodes precipitated by illness, fatigue, stress, Choreoathetosis, Respiratory fa... |
OMIM:312170 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Tremor, Respiratory failure, Fasciculations, Hydronephrosis, Limb h... |
OMIM:620327 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Renal dysplasia |
OMIM:236500 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... |
ORPHA:3027 |
Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter |
OMIM:616367 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Kyphosis, Respiratory failure, Scoliosis, Frequent falls |
ORPHA:75840 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Restrictive ventilatory defect, Respiratory failure, S... |
OMIM:606612 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure, Hydronephrosis |
OMIM:607598 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Urinary incontinence, Tachypnea, Diaphragmatic paralysis, Respiratory failure, Inspiratory strido... |
OMIM:604320 |
Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Ataxia, Renal fibrosis, Oculomo... |
OMIM:618161 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Abnormality of the ureter, Respirator... |
ORPHA:1046 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hyperphosphaturia, Proteinuria, Ataxia, Respiratory insufficiency due to mu... |
OMIM:220110 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Hemivertebrae, Renal h... |
OMIM:146510 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Death in infancy, Respiratory failure, Renal cyst |
OMIM:614862 |
Carpenter Syndrome 1 |
|
Hydroureter, Spina bifida occulta, Hydronephrosis, Scoliosis |
OMIM:201000 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
OMIM:300894 |
Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Sac... |
OMIM:258040 |
Frontometaphyseal Dysplasia 1 |
|
Hydroureter, Stridor, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Hydro... |
OMIM:305620 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Respiratory failur... |
ORPHA:363400 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Beta-aminoisobutyric aciduria, Respiratory failure, Spastic tetraplegia, Respiratory insufficiency |
OMIM:615330 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Radio-Renal Syndrome |
|
Respiratory distress, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Dys... |
ORPHA:3015 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Spina bifida occulta, Vesicoureteral reflux, Crossed fuse... |
OMIM:300707 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Parkinsonism, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Pollakisuria, Urinary bladd... |
ORPHA:93256 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... |
ORPHA:723 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowed slurred speech... |
ORPHA:240071 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Thoracic kyphoscoliosis, Restrictive ventilatory defect, Respi... |
ORPHA:98913 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La... |
ORPHA:2302 |
8P23.1 Duplication Syndrome |
|
Hydronephrosis |
ORPHA:251076 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Ataxia, Spastic tetraparesis, Tachypnea, Babinski sign, Respiratory failure, Death in childhood, ... |
OMIM:615838 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney |
OMIM:602200 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Hypospadias, Abnormality of the kidney, Respiratory failure, 3-Methylglutaconic... |
ORPHA:1194 |
Pontocerebellar Hypoplasia Type 1 |
|
Ataxia, Congenital laryngeal stridor, Respiratory failure, Tongue fasciculations, Spasticity |
ORPHA:2254 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... |
ORPHA:49 |
Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... |
OMIM:608647 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Neonatal respiratory distress, Apnea,... |
OMIM:608836 |
Xanthinuria, Type I |
|
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis |
OMIM:278300 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Bradykinesia, Parkinsonism |
ORPHA:412066 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Rigidity, Spastic/hyperactive bladder, Bradykinesia, Parkinsonism w... |
ORPHA:411602 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Respiratory failure, Spasticity |
ORPHA:168486 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Respiratory insufficiency, Res... |
OMIM:613845 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Tremor, Hypertrophy of the urinary bladder, Unilateral renal dysplasia, Athetosis, C... |
ORPHA:280633 |
Diabetic Embryopathy |
|
Ureteral duplication, Renal hypoplasia/aplasia, Vertebral segmentation defect, Micropenis, Hydron... |
ORPHA:1926 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... |
OMIM:265120 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hydronephrosis, Scoliosis, Apraxia |
OMIM:620141 |
Snakebite Envenomation |
|
Epistaxis, Paralysis, Respiratory failure, Pseudobulbar paralysis, Respiratory paralysis, Acute k... |
ORPHA:449285 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis |
ORPHA:261344 |
Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal insufficiency, Renal hypoplasia |
OMIM:615996 |
Mercury Poisoning |
|
Respiratory distress, Tremor, Dyspnea, Respiratory failure, Interstitial pneumonitis, Acute kidne... |
ORPHA:330021 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Scoliosis, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:2995 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Renal dysplasia, Urinary bladder inflammation, Hematuria, Aplasia of the blad... |
ORPHA:79403 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Tremor, Rigidity, Blepharospasm, Spastic dysarthria, Bradykinesia, Oculomotor apraxia |
ORPHA:240094 |
Leigh Syndrome |
|
Ataxia, Respiratory insufficiency, Respiratory failure, Spasticity, Abnormal pattern of respiration |
OMIM:256000 |
Manganese Poisoning |
|
Postural tremor, Cogwheel rigidity, Bradykinesia, Hypertonia, Abnormality of extrapyramidal motor... |
ORPHA:306682 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Ataxia, Apnea, Central hypoventilation, Dysmetria, Respiratory failure |
OMIM:618233 |
Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia |
OMIM:236700 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... |
ORPHA:1834 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure, Spasticity, Opisthotonus |
OMIM:610678 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Lumbar hyperlordosis, Urinary incontinence, Kyphosis, Respir... |
OMIM:616482 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Bladder diverticulum, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617821 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
Cockayne Syndrome Type 3 |
|
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Kyphosis, Renal ... |
ORPHA:90324 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure, Chorea, Ataxia, Spasticity |
ORPHA:70472 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Resting tremor, Ataxia, Tremor, Rigidity, Respiratory insufficiency, Gait ataxia, Cogwheel rigidi... |
ORPHA:254892 |
Caribbean Parkinsonism |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive... |
ORPHA:97355 |
Metatropic Dysplasia |
|
Kyphoscoliosis, Kyphosis, Respiratory insufficiency, Respiratory failure, Platyspondyly, Scoliosi... |
OMIM:156530 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Neurogenic bladder, Ataxia, Urinary incontine... |
ORPHA:496641 |
6P22 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:251046 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Neonatal death, Abnormal vertebral morphology, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormally ossified vertebrae, Hydroureter, Abnormality of the kidney, Abnormality of the upper u... |
ORPHA:2636 |
Idiopathic Pulmonary Hemosiderosis |
|
Glomerulonephritis, Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough |
ORPHA:99931 |
Raine Syndrome |
|
Neonatal death, Death in infancy, Hydroureter, Hydronephrosis |
OMIM:259775 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal renal morphology, Abnormal respiratory sys... |
ORPHA:449280 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Babinski sign, Respiratory insufficiency, Respiratory failure, Neonatal death, Spasticity |
OMIM:618186 |
Recombinant Chromosome 8 Syndrome |
|
Hypertonia, Hydronephrosis, Scoliosis |
OMIM:179613 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Hemivertebrae, Abnormal form of the vertebral bodies, Respiratory ... |
ORPHA:2759 |
Joubert Syndrome 37 |
|
Oculomotor apraxia, Micropenis, Lumbar hyperlordosis, Hydronephrosis |
OMIM:619185 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Neonatal respiratory distress, Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatati... |
OMIM:265380 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... |
ORPHA:3467 |
Ellis Van Creveld Syndrome |
|
Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Abnorm... |
ORPHA:289 |
Neuroferritinopathy |
|
Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Blepharospasm, Bradyk... |
ORPHA:157846 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hydroureter, Unilateral renal agenesis, Kyphosis, Hypertonia, Bilateral renal agenesis, Scoliosis |
OMIM:619194 |
Tibial Muscular Dystrophy |
|
Respiratory failure, Clumsiness |
ORPHA:609 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Vertebral fusion, Hypospadias, Kyphosis, Vertebral segmentation defect, Sco... |
ORPHA:96169 |
Rett Syndrome |
|
Bradykinesia, Scoliosis, Abnormal pattern of respiration, Limb apraxia |
ORPHA:778 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hyperlordosis, Glutaric aciduria, Dyspnea, Lacticaciduria, Cardiorespiratory arrest, Restrictive ... |
ORPHA:26791 |
Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Respiratory insuffi... |
OMIM:135100 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Respiratory insufficiency due to muscle weakness, Kyphosis, Respiratory failure, S... |
OMIM:618291 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, Hypertonia, Spas... |
OMIM:610217 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Respiratory failure, Frequent falls, Nocturnal hypoventilation |
OMIM:603689 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Kyphosis, Babinski sign, Spasticity, Myoclonus, Scoliosis, Micropenis, Hydronephrosis |
ORPHA:364028 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Urinary incontinence, Parkinsonism, Tremor, Rigidity, Babinski sign, Abno... |
OMIM:234200 |
Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Restrictive ven... |
OMIM:310200 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Aplasia of the bladder, Abnormality of the urinary s... |
ORPHA:158684 |
Melnick-Needles Syndrome |
|
Respiratory insufficiency, Scoliosis, Vesicoureteral reflux, Hydronephrosis, Anisospondyly |
ORPHA:2484 |
Diphallia |
|
Ureteral duplication, Renal malrotation, Hypospadias, Distal urethral duplication, Epispadias, Pe... |
ORPHA:227 |
Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Urinary incontinence, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal s... |
ORPHA:306674 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Respiratory failure |
OMIM:616867 |
Trisomy 13 |
|
Kyphosis, Abnormality of the ureter, Multiple renal cysts, Scoliosis, Displacement of the urethra... |
ORPHA:3378 |
Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Respiratory failu... |
OMIM:617666 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Tremor,... |
OMIM:615512 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Respiratory failure, Nocturnal hypoventilation |
OMIM:620326 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Torticollis, Ataxia, Tremor, Rigidity, Bradypnea, Respiratory failure, Tetraparesis, Death in chi... |
OMIM:617186 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Resting tremor, Parkinsonism, Rigidity, Slurred speech, Hand tremor, Gait ataxia, Bradykinesia, P... |
OMIM:157640 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Appendicular spasticity, Unilateral renal agenesis, Renal hypoplasia, Scoliosis, Hydronephrosis |
OMIM:618494 |
Amyotrophic Lateral Sclerosis |
|
Paralysis, Dyspnea, Abnormal respiratory system physiology, Respiratory failure, Spasticity |
ORPHA:803 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Tremor, Choreo... |
OMIM:614080 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Clonus, Tremor, Hypopnea, 3-Methylglutaric aciduria, 3-Methylglutaconic ... |
OMIM:617248 |
9Q21.13 Microdeletion Syndrome |
|
Vertebral segmentation defect, Hydronephrosis, Scoliosis |
ORPHA:531151 |
Tetrasomy 15Q26 |
|
Kyphoscoliosis, Hydronephrosis, Horseshoe kidney |
OMIM:614846 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Urethral stenosis, Hypertonia, Polycystic kidney dysplasia, ... |
ORPHA:261290 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
Congenital Myopathy 10B, Mild Variant |
|
Hyperlordosis, Reduced forced vital capacity, Recurrent pneumonia, Respiratory failure, Scoliosis |
OMIM:620249 |
22Q11.2 Duplication Syndrome |
|
Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis, Scoliosis |
ORPHA:1727 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Hyperlordosis, Kyphosis, Abnormality of the ureter, Fused cervical vertebrae |
ORPHA:2522 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Ureteral agenesis, Hyperechogenic kidneys, Bilateral renal agenesis, Renal hypoplasia |
OMIM:617914 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Bladder diverticulum,... |
OMIM:129900 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Lethargy, Myoglobinuria, Respiratory failure, Respiratory insufficiency |
OMIM:609015 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Pneumonia, Abnormal respiratory system physiology, Respiratory failure, Scoliosis, Micropenis |
ORPHA:98905 |
Leigh Syndrome |
|
Chorea, Choreoathetosis, Complex organic aciduria, Ataxia, Renal tubular dysfunction, Nephrotic s... |
ORPHA:506 |
Intermediate Nemaline Myopathy |
|
Respiratory failure |
ORPHA:171433 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, ... |
OMIM:301068 |
Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Ataxia, Respiratory insufficiency, Respiratory f... |
OMIM:607625 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of the urinary system, Congenital megau... |
ORPHA:369837 |
Fraser Syndrome 3 |
|
Hypoplasia of the bladder, Hypoplasia of penis, Ureteral agenesis, Stillbirth, Bilateral renal ag... |
OMIM:617667 |
Trisomy 20P |
|
Incoordination, Hypospadias, Abnormality of the kidney, Kyphosis, Abnormality of the ureter, Abno... |
ORPHA:261318 |
Endove Syndrome, Limb-Brain Type |
|
Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis |
OMIM:619218 |
Williams-Beuren Region Duplication Syndrome |
|
Speech apraxia, Hydronephrosis, Unilateral renal agenesis |
OMIM:609757 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Blepharospasm, Bradykinesia |
ORPHA:683 |
Acute Interstitial Pneumonia |
|
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... |
ORPHA:79126 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... |
OMIM:617641 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Acute kidney injury, Decreased urine... |
ORPHA:542323 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Opisthotonus, Micropenis, Hydronephrosis |
OMIM:269150 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure, Frequent falls, Ataxia |
OMIM:620166 |
Zaki Syndrome |
|
Renal agenesis, Hydronephrosis, Hypertonia, Scoliosis, Spastic gait |
OMIM:619648 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Kyphosis, Recurrent pneumonia, Scoliosis, Pulmonary arterial hypertension, Spasticit... |
OMIM:616449 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:618265 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Desmoid Tumor |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
White-Kernohan Syndrome |
|
Hydroureter, Hydronephrosis, Horseshoe kidney |
OMIM:619426 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hydroureter |
OMIM:610759 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Respiratory failure, Patent urachus, Death in childhood |
OMIM:618252 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:615530 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Speech apraxia, Dysuria, Babinski sign, Slurred speech, Spastic gait, Spastic dysarthria, Ankle c... |
ORPHA:101000 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Recurrent pneumonia, Scoliosis, Hydronephrosis, Spastic tetraparesis |
OMIM:619179 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Hydronephrosis, Spastic diplegia |
OMIM:300048 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Ureteral triplication, Hemivertebrae, Hydronephrosis, Scoliosis |
OMIM:104350 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Kyphosis, Dilatation of the renal pelvis, Horseshoe kidney, Polycystic... |
ORPHA:314588 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level |
ORPHA:70578 |
Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
Distal Duplication 6P |
|
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia |
ORPHA:1745 |
Tetraploidy |
|
Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:3305 |
Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Hydronephrosis, Hemivertebrae |
OMIM:220210 |
Netherton Syndrome |
|
Ectopic kidney, Asthma, Aminoaciduria, Emphysema, Hydronephrosis |
ORPHA:634 |
Noonan Syndrome 4 |
|
Ureteral duplication, Hydronephrosis, Scoliosis |
OMIM:610733 |
Vici Syndrome |
|
Renal tubular acidosis, Ureteral atresia, Death in infancy |
ORPHA:1493 |
Micro Syndrome |
|
Hypoplasia of penis, Kyphosis, Abnormal localization of kidney, Scoliosis, Spasticity, Hydronephr... |
ORPHA:2510 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Hypertonia, Hydronephrosis |
ORPHA:2083 |
Penoscrotal Transposition |
|
Hypospadias, Renal agenesis, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... |
ORPHA:2842 |
Chand Syndrome |
|
Hydroureter, Ataxia |
ORPHA:1401 |
Boutonneuse Fever |
|
Renal insufficiency, Respiratory failure |
ORPHA:83313 |
Meckel Syndrome 12 |
|
Ureteral hypoplasia, Bilateral renal agenesis, Renal hypoplasia |
OMIM:616258 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Micropenis, Hypospadias |
OMIM:617516 |
Immunodeficiency 54 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Micropenis, Platyspondyly, Pleural effusion, Hydronephrosis |
OMIM:616897 |
3C Syndrome |
|
Death in infancy, Hypoplasia of penis, Hypospadias, Kyphosis, Hemivertebrae, Scoliosis, Hydroneph... |
ORPHA:7 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure, Ataxia |
ORPHA:1861 |
Severe Congenital Nemaline Myopathy |
|
Micropenis, Hypospadias, Respiratory failure |
ORPHA:171430 |
Fanconi Anemia |
|
Renal insufficiency, Hydroureter, Hypospadias, Recurrent urinary tract infections, Abnormal prepu... |
ORPHA:84 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Kyphosis, Respiratory insufficiency, Scoliosis, Tracheomalaci... |
ORPHA:140 |
Young-Onset Parkinson Disease |
|
Tremor, Spasticity, Rigidity, Bradykinesia |
ORPHA:2828 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Hypospadias, Kyphosis, Abnormality of the ureter, Respiratory insufficiency, Abnormal form of the... |
ORPHA:2311 |
Intellectual Disability, Buenos-Aires Type |
|
Cuboid-shaped thoracolumbar vertebral bodies, Spastic gait, Hydronephrosis |
ORPHA:3079 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
Kury-Isidor Syndrome |
|
Hydronephrosis, Scoliosis |
OMIM:619762 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... |
ORPHA:887 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis |
OMIM:620296 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Hyposthenuria, Vesicoureteral reflux, Spasticity, Hydronephrosis |
OMIM:615926 |
Riddle Syndrome |
|
Ataxia, Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Enuresis nocturna, Clumsiness, Restric... |
ORPHA:420741 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... |
OMIM:614527 |
Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, T... |
ORPHA:60025 |
Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Urinary bladder inflammation, Renal interstitial immunoglobulin... |
ORPHA:449395 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Ataxia, Urolithiasis, Hyperuricosuria, Death in childhood, Uric... |
OMIM:300661 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Renal hypoplasia, Renal cyst, Hypertonia, Scoliosis, Vesicoureteral reflux,... |
OMIM:618460 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Tracheomalacia, Dyspnea, Renal cyst, Scoli... |
ORPHA:261494 |
Zellweger Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Hypospadias, Respiratory insufficiency, Hydroneph... |
ORPHA:912 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Apnea, Clonus, Respiratory failure, Hypertonia |
OMIM:617301 |
Joubert Syndrome 21 |
|
Apnea, Ataxia, Dyspnea, Renal cyst, Respiratory failure, Oculomotor apraxia, Hyperechogenic kidne... |
OMIM:615636 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Hemivertebrae, Urethral atresia, Supernumerary vertebrae, Scol... |
OMIM:271520 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
Infantile Krabbe Disease |
|
Respiratory distress, Lower limb spasticity, Spastic diplegia, Opisthotonus, Ankle clonus, Respir... |
ORPHA:206436 |
17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia |
ORPHA:261265 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Thoracic scoliosis, Hypospadias, Kyphoscoliosis, Hemolytic-uremic syndrome, ... |
OMIM:611209 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hypospadias, Vesicoureteral reflux, Micropenis, Hydronephrosis, But... |
OMIM:301056 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Death in infancy, Apnea, Hypospadias, Ataxia, Babinski sign, Lact... |
OMIM:252010 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Neonatal asphyxia, Proteinuria, Multiple bladder diverticula |
ORPHA:2728 |
Bladder Exstrophy |
|
Hypoplasia of penis, Recurrent urinary tract infections, Epispadias, Abnormality of the ureter, V... |
ORPHA:93930 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Respiratory failure, Ataxia, Titubation |
ORPHA:280210 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Hydronephrosis, Limb hypertonia |
ORPHA:488613 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Thoracic scoliosis, Respiratory failure, Chylothorax, Dea... |
OMIM:620278 |
Coffin-Siris Syndrome 1 |
|
Hydroureter, Hypospadias, Ectopic kidney, Kyphosis, Renal hypoplasia, Gait ataxia, Scoliosis, Spi... |
OMIM:135900 |
Cardiac Valvular Dysplasia 1 |
|
Urethral diverticulum, Hydroureter, Hydronephrosis |
OMIM:212093 |
Toluene Embryopathy |
|
Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory failure, 3-Methylglutaconic aciduria, Respiratory insufficiency, Spasticity |
OMIM:618329 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Renal hypoplasia, Respiratory insufficiency, Horseshoe kidney, Neonatal death,... |
OMIM:601186 |
Igg4-Related Aortitis |
|
Asthma, Hydronephrosis |
ORPHA:449400 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Cervical kyphosis, Kyphoscoliosis, Pneumothorax, Functional abnormality of the bladder, Nephrolit... |
ORPHA:2953 |
Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Productive cough, Wheezing, Bronchiectasis, Respiratory failure, C... |
ORPHA:244 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Rigidity, Truncal ataxia, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesis, Hyperto... |
ORPHA:309854 |
Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... |
ORPHA:563 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Fused cervical vertebrae, ... |
OMIM:607323 |
Silver-Russell Syndrome 1 |
|
Urethral valve, Hypospadias, Abnormality of the ureter, Congenital posterior urethral valve, Neph... |
OMIM:180860 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Renal agenesis, Hypospadias, Kyphoscoliosis, Kyphosis, Hemivertebrae, Spasticity, Scoliosis, Micr... |
OMIM:301040 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Micropenis, Kyphoscoliosis, Hydronephrosis, Spasticity |
OMIM:612513 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Kyphosis, Platysp... |
ORPHA:2273 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Duplication of renal pelvis, Ureteral duplication, Hand tremor |
ORPHA:457212 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Ureteral atresia, Polycystic kidney dysplasi... |
OMIM:208540 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Bradykinesia, Babinski sign, Spastic tetraparesis |
OMIM:614924 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Renal duplication |
OMIM:270420 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis |
ORPHA:93260 |
8P Inverted Duplication/Deletion Syndrome |
|
Spastic tetraplegia, Hypertonia, Abnormality of the urinary system, Scoliosis, Micropenis, Hydron... |
ORPHA:96092 |
Suleiman-El-Hattab Syndrome |
|
Hydronephrosis |
OMIM:618950 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Respiratory failure, Paroxysmal dyspnea |
ORPHA:444013 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila... |
ORPHA:49041 |
Baller-Gerold Syndrome |
|
Abnormality of the ureter, Abnormal localization of kidney, Scoliosis, Vesicoureteral reflux, Hyd... |
ORPHA:1225 |
Urban-Rogers-Meyer Syndrome |
|
Kyphosis, Hypoplasia of penis, Abnormality of the ureter |
ORPHA:3409 |
Acro-Renal-Ocular Syndrome |
|
Renal malrotation, Vertebral fusion, Renal hypoplasia/aplasia, Horseshoe kidney, Bladder divertic... |
ORPHA:959 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Asthma, Platyspondyly, Scoliosis, Moderate albuminuria, Hydronephrosis |
OMIM:619269 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Neurogenic bladder, Neonatal asphyxia, Respiratory insufficiency, Hydronephrosis |
OMIM:608779 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Epistaxis, Dyspnea, Chr... |
ORPHA:340 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Neonatal respiratory distress, Hydronephrosis |
ORPHA:457193 |
Mitochondrial Trifunctional Protein Deficiency |
|
Babinski sign, Respiratory insufficiency, Respiratory failure, Lethargy, Frequent falls |
ORPHA:746 |
Tarp Syndrome |
|
Neonatal death, Athetosis, Hydronephrosis, Horseshoe kidney |
OMIM:311900 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormally ossified vertebrae, Kyphoscoliosis, Hydronephrosis, Hypoplastic cervical vertebrae |
ORPHA:35173 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Kyphosis, Recurrent pneumonia, Male urethral meatus stenosis, Scoliosis, Pulmonary a... |
ORPHA:464738 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Bladder diverticulum, Emphysema |
OMIM:219100 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... |
ORPHA:2322 |
Johanson-Blizzard Syndrome |
|
Death in infancy, Hypoplasia of penis, Hypospadias, Hydronephrosis |
ORPHA:2315 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Ataxia, Myoclonus, Scoliosis, Oculomotor apraxia, Hydronephrosis |
ORPHA:247262 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Kyphoscoliosis, Punctate vertebral calcifications, Hemivertebrae, Scoliosis, Hydronephrosis |
OMIM:302960 |
Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Hyperlordo... |
ORPHA:573278 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension, Abnormal vertebral morphology, Hydronephrosis |
ORPHA:210122 |
15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Scoliosis, Pulmonary arteri... |
ORPHA:314585 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Horseshoe kidney, Scoliosis, Vesicoureteral reflux, Pleural effusion, Spina bifid... |
OMIM:235510 |
Erdheim-Chester Disease |
|
Renal insufficiency, Ataxia, Dysuria, Dyspnea, Cough, Pleural effusion, Hydronephrosis |
ORPHA:35687 |
Takenouchi-Kosaki Syndrome |
|
Ataxia, Hypospadias, Unilateral renal agenesis, Scoliosis, Hydronephrosis |
OMIM:616737 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Kyphoscoliosis, Recurrent pneumonia, Respiratory insufficiency, Bladder diverticulum, Platyspondy... |
OMIM:225400 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Neonatal respiratory distress, Hypospadias, Albuminuria, Aminoaciduria, Death in childhood, Frequ... |
OMIM:214100 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Hyperlordosis, Respiratory insufficiency, Pulmonary arterial hypertension, Respi... |
ORPHA:258 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Ataxia, Tremor, Dyspnea, Respiratory insufficiency, Respiratory failure, Death ... |
OMIM:610505 |
Mosaic Trisomy 8 |
|
Vesicoureteral reflux, Vertebral segmentation defect, Hydronephrosis, Scoliosis |
ORPHA:96061 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
ORPHA:2496 |
Congenital Myopathy 17 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia, Respiratory insufficiency |
OMIM:618975 |
Carey-Fineman-Ziter Syndrome |
|
Hydronephrosis, Glandular hypospadias, Scoliosis |
ORPHA:1358 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Respiratory failure, Hydronephrosis |
ORPHA:254528 |
2P15P16.1 Microdeletion Syndrome |
|
Lower limb spasticity, Multicystic kidney dysplasia, Kyphosis, Scoliosis, Hydronephrosis |
ORPHA:261349 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Respiratory failure, Spastic tetraplegia |
ORPHA:3240 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter |
ORPHA:1035 |
46,Xy Sex Reversal 4 |
|
Renal dysplasia, Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:154230 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Sinusitis, Epistaxis, Chroni... |
ORPHA:900 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Bladder diverticulum, Kyphoscoliosis |
ORPHA:2976 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Hemivertebrae, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Scoli... |
ORPHA:99776 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Paralysis, Paraparesis, Respiratory failure, ... |
ORPHA:2912 |
Pelvis-Shoulder Dysplasia |
|
Lumbar hyperlordosis, Hydronephrosis, Abnormal form of the vertebral bodies |
ORPHA:2839 |
Peroxisome Biogenesis Disorder 4B |
|
Ataxia, Ureterocele |
OMIM:614863 |
Sandestig-Stefanova Syndrome |
|
Respiratory failure |
OMIM:618804 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2707 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Death in infancy, Lower limb spasticity, Bilateral fetal pyelectasi... |
OMIM:300868 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal hypoplasia, Renal cyst, Microphallus, Scoliosis, Vesicoureteral reflux, Pulmonary arterial ... |
OMIM:618454 |
Occipital Horn Syndrome |
|
Ureteral obstruction, Kyphosis, Bladder diverticulum, Platyspondyly, Hydronephrosis |
OMIM:304150 |
Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Postural tremor, Parkinsonism, Rigidity, Bradykinesia, Retrocollis |
OMIM:609454 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Ataxia, Pneumonia, Hypercapnia, Dyspnea, Babi... |
ORPHA:79138 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Vertebral segmentation defect, Scoliosis, Vesicoureteral reflux, Pleural effusion, Abnormal bladd... |
ORPHA:453499 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Spasticity, Hydronephrosis |
ORPHA:541423 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Renal dysplasia, Hydronephrosis, Scoliosis |
OMIM:300968 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
Poland Syndrome |
|
Duplicated collecting system, Hypospadias, Renal hypoplasia/aplasia, Kyphosis, Hemivertebrae, Ren... |
ORPHA:2911 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Hyperlordosis, Respiratory insufficiency due to muscle weakness,... |
ORPHA:365 |
Tarp Syndrome |
|
Apnea, Horseshoe kidney, Scoliosis, Athetoid cerebral palsy, Hydronephrosis |
ORPHA:2886 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Recurrent urinary tract infections, Kyphosis, Scoliosis, Vesicoureteral reflux,... |
OMIM:610443 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Nephrolithiasis, Hypercalciuria, Congenital megaureter, Multiple renal cyst... |
ORPHA:116 |
Melnick-Needles Syndrome |
|
Ureteral stenosis, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Stillbirth, Pulmonar... |
OMIM:309350 |
Alg9-Cdg |
|
Lower limb spasticity, Torticollis, Hypoplasia of the bladder, Ureteral hypoplasia, Asthma, Abnor... |
ORPHA:79328 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure |
ORPHA:3226 |
Listeriosis |
|
Respiratory distress, Miscarriage, Pneumonia, Ataxia, Tremor, Pyelonephritis, Hemiparesis, Respir... |
ORPHA:533 |
Osteopetrosis, Autosomal Recessive 5 |
|
Clonus, Spastic tetraplegia, Respiratory failure, Hypertonia, Stillbirth, Limb hypertonia |
OMIM:259720 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... |
ORPHA:2036 |
Aredyld Syndrome |
|
Abnormality of the ureter, Scoliosis |
ORPHA:1133 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
Al-Gazali Syndrome |
|
Recurrent pneumonia, Hydronephrosis |
OMIM:609465 |
Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Hemivertebrae, Hydronephrosis |
ORPHA:1780 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Recurrent pneumonia, Multiple bladder diverticula, Death in childhood, Tracheom... |
OMIM:613177 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Spasticity, Hydronephrosis |
OMIM:617093 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Recurrent urinary tract infections, Pneumothorax, Recurrent pneumonia, Respiratory insufficiency,... |
ORPHA:90349 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Apnea, Hydronephrosis |
ORPHA:85201 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias... |
ORPHA:2473 |
Vater/Vacterl Association |
|
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Scoliosis, Vesicour... |
OMIM:192350 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Polycystic kidney dysplasia, Ves... |
ORPHA:2237 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Micropenis, Involuntary movements, Hydronephrosis |
OMIM:617798 |
Exstrophy-Epispadias Complex |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the k... |
ORPHA:322 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Neurogenic bladder, Cerebral palsy, Asthma, Stridor, Myoclonus, Hemiplegia, Ureteropelvic junctio... |
OMIM:616973 |
Malignant Atrophic Papulosis |
|
Pleural effusion, Abnormality of the lower urinary tract, Respiratory failure |
ORPHA:679 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hypercapnia, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Kyphoscoliosis, Hyp... |
ORPHA:2020 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Death in infancy, Hypoplasia of penis, Recurrent urinary tract infections, Abnormality of the kid... |
ORPHA:847 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Death in infancy, Micropenis, Hydronephrosis |
OMIM:235255 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Spasticity, Hydronephrosis |
OMIM:617913 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... |
ORPHA:391641 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Retrocollis |
OMIM:601104 |
Cerebellar-Facial-Dental Syndrome |
|
Ureteropelvic junction obstruction, Hydronephrosis, Scoliosis, Limb hypertonia |
ORPHA:444072 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Kyphosis, Renal cyst, Scoliosis, Micropenis, Pelvic kidne... |
ORPHA:464311 |
Stromme Syndrome |
|
Stillbirth, Bilateral renal hypoplasia, Hydronephrosis |
OMIM:243605 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Unilateral renal agenesis, Stillbirth, Scoliosis, Hydronephrosis, Vertebral hypoplasia |
OMIM:308050 |
Otopalatodigital Syndrome Type 2 |
|
Hypospadias, Ureteral obstruction, Scoliosis, Abnormal vertebral segmentation and fusion, Hydrone... |
ORPHA:90652 |
Early Infantile Epileptic Encephalopathy |
|
Tremor, Spasticity, Choreoathetosis, Myoclonus, Ureterocele, Episodic ataxia, Micropenis, Renal d... |
ORPHA:1934 |
1Q21.1 Microdeletion Syndrome |
|
Vesicoureteral reflux, Hydronephrosis, Scoliosis |
ORPHA:250989 |
Fryns Syndrome |
|
Ureteral duplication, Hypospadias, Renal agenesis, Renal cyst, Stillbirth, Chylothorax, Hydroneph... |
OMIM:229850 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Scoliosis, Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis |
OMIM:618653 |
Congenital Disorder Of Glycosylation, Type It |
|
Dyspnea, Hydronephrosis, Pulmonary arterial hypertension |
OMIM:614921 |
Alagille Syndrome |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Abnormal form of the vertebral bodies, Nephr... |
ORPHA:52 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Renal insufficiency, Recurrent urinary tract infections, Spontaneous pneumothora... |
ORPHA:731 |
Opitz Gbbb Syndrome |
|
Hypospadias, Tracheomalacia, Stridor, Vertebral segmentation defect, Abnormality of the urinary s... |
ORPHA:2745 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Death in infancy, Renal malrotation, Dilatation of the renal pelvis, Horses... |
OMIM:274000 |
Campomelic Dysplasia |
|
Respiratory distress, Poorly ossified cervical vertebrae, Neonatal respiratory distress, Thoracic... |
OMIM:114290 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Unilateral renal agenesis, Kyphosis, Renal cyst, Scoliosis, Micropenis, Pelvic kidne... |
ORPHA:464306 |
7Q11.23 Microduplication Syndrome |
|
Hypospadias, Unilateral renal agenesis, Hemivertebrae, Dysmetria, Enuresis, Tracheomalacia, Hydro... |
ORPHA:96121 |
Fryns Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis |
ORPHA:2059 |
Gabriele-De Vries Syndrome |
|
Tremor, Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:617557 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Sta... |
ORPHA:805 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Hypospadias, Nephroblastoma, Kyphoscoliosis, Recurrent pneumonia, Abnormali... |
ORPHA:798 |
Niemann-Pick Disease Type C |
|
Speech apraxia, Lower limb spasticity, Ataxia, Tremor, Chorea, Abnormal pyramidal sign, Respirato... |
ORPHA:646 |
Cardiofaciocutaneous Syndrome 1 |
|
Oculomotor apraxia, Hypertonia, Hydronephrosis, Scoliosis |
OMIM:115150 |
Dubowitz Syndrome |
|
Hypospadias, Asthma, Respiratory insufficiency, Scoliosis, Spina bifida occulta, Hydronephrosis |
ORPHA:235 |
Au-Kline Syndrome |
|
Thoracolumbar scoliosis, Chronic kidney disease, Dilatation of the renal pelvis, Vertebral segmen... |
OMIM:616580 |
Smith-Magenis Syndrome |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Abnormal form of the vertebral bodies, Abnor... |
ORPHA:819 |
Cat Eye Syndrome |
|
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Horseshoe kidney |
OMIM:115470 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Dyspnea, Cardiorespiratory arrest, Respiratory failure, Scoliosis |
ORPHA:3342 |
Encephalocraniocutaneous Lipomatosis |
|
Pelvic kidney, Hydronephrosis |
OMIM:613001 |
Microphthalmia, Syndromic 1 |
|
Hydroureter, Hypospadias, Lumbar hyperlordosis, Kyphoscoliosis, Renal hypoplasia/aplasia, Renal h... |
OMIM:309800 |
Williams Syndrome |
|
Hypoplasia of penis, Tremor, Dysmetria, Abnormal tubulointerstitial morphology, Nephrocalcinosis,... |
ORPHA:904 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Vertebral fusion, Thoracolumbar scoliosis, Hemivertebrae, Nephrolithiasis, Nephrocalcinosis, Scol... |
OMIM:268310 |
Abetalipoproteinemia |
|
Ataxia, Kyphoscoliosis, Babinski sign, Dysmetria, Gait ataxia, Respiratory failure, Upper motor n... |
ORPHA:14 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Tachypnea, Respiratory insufficiency, Tetraplegia, Respiratory failure, Myoclonus, Death in child... |
OMIM:618278 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Horseshoe kidney, Scoliosis, Hydronephrosis |
ORPHA:2092 |
Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea |
ORPHA:555874 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Ataxia, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Reduc... |
OMIM:266920 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Hydronephrosis, Horseshoe kidney |
OMIM:272950 |
Hereditary Orotic Aciduria |
|
Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria |
ORPHA:30 |
Choreoacanthocytosis |
|
Resting tremor, Self-mutilation of tongue and lips due to involuntary movements, Poor motor coord... |
ORPHA:2388 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent urinary tract infections, Urachus fistula, Respiratory insufficiency, Pulmonary arteria... |
OMIM:612541 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Respiratory failure |
ORPHA:88618 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Hypoplasia of penis, Hypospadias, Epispadias, Dyspnea, Respiratory failure |
ORPHA:2554 |
Frontometaphyseal Dysplasia |
|
Ureteral obstruction, Urethral stenosis, Fused cervical vertebrae, Scoliosis, Spina bifida occult... |
ORPHA:1826 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Micropenis, Abnormal renal morphology, Hydronephrosis |
ORPHA:1655 |
Autosomal Recessive Robinow Syndrome |
|
Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Kyphosis, Vertebral segmenta... |
ORPHA:1507 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Exaggerated startle response, Hypospadias, Urinary incontinence, Renal agenes... |
OMIM:619522 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Kyphosi... |
ORPHA:818 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Abnormality of the ureter, Renal hypoplasia/aplasia |
ORPHA:1770 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Bladder diverticulum, Kyphoscoliosis |
OMIM:614557 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Speech apraxia, Recurrent urinary tract infections, Hypospadias, Tracheomalacia, Hyperlordosis, K... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Speech apraxia, Recurrent urinary tract infections, Hypospadias, Tracheomalacia, Hyperlordosis, K... |
ORPHA:363958 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Recurrent urinary tract infections, Tachypnea, Respiratory insufficiency, Respiratory failure, Sc... |
OMIM:613658 |
Bloom Syndrome |
|
Recurrent urinary tract infections, Pneumonia, Chronic pulmonary obstruction, Respiratory failure... |
ORPHA:125 |
Knobloch Syndrome 1 |
|
Duplicated collecting system, Ataxia, Spina bifida occulta, Bifid ureter, Hydronephrosis, Renal d... |
OMIM:267750 |
Menkes Disease |
|
Bladder diverticulum, Chorea, Hypertonia, Spasticity |
ORPHA:565 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia |
OMIM:617809 |
Autosomal Dominant Cutis Laxa |
|
Unilateral renal agenesis, Bronchiectasis, Pyelonephritis, Bladder diverticulum, Scoliosis, Emphy... |
ORPHA:90348 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Bladder diverticulum, Kyphoscoliosis, Congenital kyphoscoliosis, Scoliosis |
ORPHA:536545 |
Cardiofaciocutaneous Syndrome |
|
Hydronephrosis, Scoliosis |
ORPHA:1340 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Exaggerated startle response, Apnea, Involuntary movements, Breathing dysregulat... |
ORPHA:438213 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Micropenis, Hypospadias, Hydronephrosis, Respiratory insufficiency |
ORPHA:163979 |
Williams-Beuren Syndrome |
|
Renal insufficiency, Incoordination, Recurrent urinary tract infections, Kyphoscoliosis, Urethral... |
OMIM:194050 |
Distal Deletion 12Q |
|
Kyphoscoliosis, Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Micropenis, H... |
ORPHA:96149 |
Cousin Syndrome |
|
Hydronephrosis, Anterior rounding of vertebral bodies |
OMIM:260660 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Multicystic kidney dysplasia, Kyphoscoliosis, Hemivertebrae, Scoliosis,... |
ORPHA:97360 |
Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Kyphoscoliosis, Abnormality of the ureter, Hemivertebrae, Aplasia of the bladder,... |
OMIM:200980 |
Schwartz-Jampel Syndrome |
|
Death in infancy, Abnormally ossified vertebrae, Apnea, Hyperlordosis, Kyphosis, Abnormality of t... |
ORPHA:800 |
Peutz-Jeghers Syndrome |
|
Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts |
ORPHA:2869 |
Osteogenesis Imperfecta, Type Vii |
|
Death in infancy, Vertebral compression fracture, Hydronephrosis, Scoliosis |
OMIM:610682 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Vertebral segmentation defect, Scoliosis, Nocturnal hypoventilation, Vesicoureteral reflux, Hydro... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Vertebral segmentation defect, Scoliosis, Nocturnal hypoventilation, Vesicoureteral reflux, Hydro... |
ORPHA:352665 |
Trisomy 18 |
|
Hypertonia, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:3380 |
Eec Syndrome |
|
Hypospadias, Renal hypoplasia/aplasia, Urethral atresia, Vesicoureteral reflux, Hydronephrosis |
ORPHA:1896 |
Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... |
ORPHA:821 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure |
OMIM:616538 |
Jacobsen Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Abnormal form of the vertebral bodies, Scoliosis,... |
ORPHA:2308 |
Occipital Horn Syndrome |
|
Recurrent urinary tract infections, Kyphosis, Bladder diverticulum, Platyspondyly, Scoliosis |
ORPHA:198 |
Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Kyphoscoliosis, Respiratory insufficiency, Respiratory failure, Stillbirth, Platyspo... |
OMIM:304120 |
Osteopetrosis With Renal Tubular Acidosis |
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Nephrolithiasis, Proximal renal tubular acidosis, Renal tubular acidosis, Pulmonary arterial hype... |
ORPHA:2785 |
Restrictive Dermopathy 1 |
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Ureteral duplication, Hypospadias, Kyphoscoliosis, Stillbirth, Neonatal death |
OMIM:275210 |
Floating-Harbor Syndrome |
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Speech apraxia, Hypospadias, Renal agenesis, Kyphoscoliosis, Dilatation of the renal pelvis, Stag... |
ORPHA:2044 |
Thauvin-Robinet-Faivre Syndrome |
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Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia |
OMIM:617107 |
Smith-Lemli-Opitz Syndrome |
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Ureteropelvic junction obstruction, Death in infancy, Duplicated collecting system, Hypospadias, ... |
OMIM:270400 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
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Scoliosis, Hypospadias, Hydronephrosis, Unilateral renal agenesis |
ORPHA:487796 |
Myhre Syndrome |
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Vertebral fusion, Ataxia, Respiratory insufficiency, Enlarged vertebral pedicles, Respiratory fai... |
OMIM:139210 |
Nijmegen Breakage Syndrome |
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Pollakisuria, Respiratory failure, Recurrent pneumonia |
ORPHA:647 |
Nocardiosis |
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Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... |
ORPHA:31204 |
Nijmegen Breakage Syndrome |
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Recurrent urinary tract infections, Sinusitis, Recurrent pneumonia, Bronchiectasis, Hydronephrosis |
OMIM:251260 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Sinusitis, Lower limb dysmetria, Kyphoscoliosis, Renal hypoplasia/aplasia, Hyperlordosis, Abnorma... |
ORPHA:363700 |
Orofaciodigital Syndrome Type 1 |
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Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Ataxia, Tremor, Hydronephrosis |
ORPHA:2750 |
Ulbright-Hodes Syndrome |
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Abnormal penis morphology, Respiratory distress, Pneumothorax, Ovoid thoracolumbar vertebrae, Ren... |
ORPHA:3404 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Renal malrotation, Multicystic kidney dysplasia, Spina bifida occulta, Nephroblastoma, Bifid uret... |
ORPHA:500095 |
Holoprosencephaly 3 |
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Hydronephrosis |
OMIM:142945 |
Apert Syndrome |
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Hydronephrosis, Cervical C5/C6 vertebrae fusion |
OMIM:101200 |
Toriello-Lacassie-Droste Syndrome |
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Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the... |
ORPHA:3339 |
Knobloch Syndrome |
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Vesicoureteral reflux, Bifid ureter |
ORPHA:1571 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Lumbar hyperlordosis, Unilateral renal agenesis, Bilateral renal dysplasia, Kyphoscoliosis, Hemiv... |
ORPHA:500150 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
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Abnormality of the ureter, Hyperlordosis |
ORPHA:3253 |
Lethal Acantholytic Erosive Disorder |
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Respiratory failure |
ORPHA:158687 |
Microphthalmia With Linear Skin Defects Syndrome |
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Abnormal penis morphology, Respiratory distress, Hypospadias, Epispadias, Dyspnea, Respiratory fa... |
ORPHA:2556 |
Charge Syndrome |
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Hemivertebrae, Respiratory insufficiency, Horseshoe kidney, Scoliosis, Vesicoureteral reflux, Mic... |
ORPHA:138 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
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Duplicated collecting system, Ureteropelvic junction obstruction, Hydronephrosis, Gait ataxia |
OMIM:280000 |
Craniofacioskeletal Syndrome |
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Hypospadias, Hydronephrosis |
OMIM:300712 |
3Mc Syndrome 1 |
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Spina bifida occulta, Hydronephrosis |
OMIM:257920 |
Trisomy 8P |
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Nephrocalcinosis, Micropenis, Fetal pyelectasis, Hydronephrosis |
ORPHA:264450 |
Digeorge Syndrome |
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Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Asthma, Chronic pulmonary obstru... |
OMIM:188400 |
Doors Syndrome |
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Respiratory distress, Increased urine alpha-ketoglutarate concentration, Hemivertebrae, Nephrocal... |
ORPHA:79500 |
Meckel Syndrome |
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Ureteral duplication, Multicystic kidney dysplasia, Urethral atresia |
ORPHA:564 |
Arboleda-Tham Syndrome |
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Respiratory distress, Neonatal respiratory distress, Recurrent urinary tract infections, Lower li... |
OMIM:616268 |
Mesomelia-Synostoses Syndrome |
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Abnormal vertebral morphology, Hydronephrosis |
OMIM:600383 |
Congenital Tracheal Stenosis |
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Respiratory distress, Abnormality of the kidney, Neonatal asphyxia, Wheezing, Dyspnea, Abnormalit... |
ORPHA:141127 |
Wiedemann-Rautenstrauch Syndrome |
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Recurrent urinary tract infections, Hypospadias, Ataxia, Irregular sclerotic endplates, Action tr... |
ORPHA:3455 |
Focal Dermal Hypoplasia |
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Ureteral duplication, Spina bifida occulta, Horseshoe kidney, Scoliosis, Bifid ureter, Hydronephr... |
OMIM:305600 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Respiratory distress, Cleft vertebral arch, Fused cervical vertebrae, Micropenis, Hydronephrosis |
ORPHA:83617 |
Costello Syndrome |
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Renal insufficiency, Pneumothorax, Respiratory insufficiency, Respiratory failure, Tracheomalacia |
OMIM:218040 |
1P36 Deletion Syndrome |
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Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Hemiplegia/hemiparesis, Kyphosis, Re... |
ORPHA:1606 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Micropenis, Multicystic kidney dysplasia, Hydronephrosis, Spasticity |
OMIM:615287 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Miscarriage, Kyphoscoliosis, Hemivertebrae, Restrictive ventilatory defect, Respiratory failure, ... |
ORPHA:96334 |
Okamoto Syndrome |
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Urinary incontinence, Unilateral renal hypoplasia, Scoliosis, Ureteropelvic junction obstruction,... |
ORPHA:2729 |
Kabuki Syndrome 1 |
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Crossed fused renal ectopia, Abnormal vertebral morphology, Micropenis, Scoliosis, Ureteropelvic ... |
OMIM:147920 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Respiratory insufficie... |
ORPHA:93271 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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Nephrotic syndrome, Pneumothorax, Hydronephrosis, Scoliosis |
OMIM:601776 |
Peters Plus Syndrome |
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Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Spina ... |
ORPHA:709 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
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Hypospadias, Ureterocele |
OMIM:616734 |
Rubinstein-Taybi Syndrome 1 |
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Respiratory distress, Incoordination, Hypospadias, Poor coordination, Scoliosis, Spina bifida occ... |
OMIM:180849 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Recurrent urinary tract infections, Hypospadias, Pneumonia, Asthma, Nephrolithiasis, Abnormality ... |
ORPHA:353281 |
Proboscis Lateralis |
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Ureteral agenesis, Duplication of renal pelvis, Unilateral renal agenesis |
ORPHA:141099 |
Floating-Harbor Syndrome |
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Hypospadias, Kyphoscoliosis, Glandular hypospadias, Nephrocalcinosis, Congenital posterior urethr... |
OMIM:136140 |
Heterotaxy, Visceral, 5, Autosomal |
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Ureteral duplication, Ureteral stenosis, Renal hypoplasia |
OMIM:270100 |
Monosomy 22Q13.3 |
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Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia, Hydronephrosis |
ORPHA:48652 |
Dextrocardia |
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Abnormal renal morphology, Abnormality of the ureter |
ORPHA:1666 |
Chime Syndrome |
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Hydronephrosis, Abnormality of the kidney |
ORPHA:3474 |
Steinert Myotonic Dystrophy |
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Respiratory failure requiring assisted ventilation, Respiratory insufficiency due to muscle weakn... |
ORPHA:273 |
Ileal Neuroendocrine Tumor |
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Hydronephrosis |
ORPHA:100078 |
Peutz-Jeghers Syndrome |
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Abnormality of the ureter, Bladder polyp |
OMIM:175200 |
Gabriele-De Vries Syndrome |
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Tremor, Ureteropelvic junction obstruction, Hydronephrosis |
ORPHA:506358 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Neonatal respiratory distress, Hypospadias, Renal cyst, Duplication of renal pelvis, Vertebral se... |
OMIM:312870 |
Restrictive Dermopathy |
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Ureteral duplication, Thoracic kyphoscoliosis, Hypospadias |
ORPHA:1662 |
Tetrasomy 9P |
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Renal dysplasia, Recurrent urinary tract infections, Horseshoe kidney, Multiple renal cysts, Pulm... |
ORPHA:3310 |
Peters-Plus Syndrome |
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Ureteral duplication, Hypospadias, Hemivertebrae, Renal hypoplasia, Scoliosis, Hydronephrosis |
OMIM:261540 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Respiratory distress, Ureteral duplication |
ORPHA:2255 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Recurrent urinary tract infections, Hypospadias, Pneumonia, Abnormality of the kidney, Asthma, Ne... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Recurrent urinary tract infections, Hypospadias, Pneumonia, Abnormality of the kidney, Asthma, Ne... |
ORPHA:353277 |
Lacrimoauriculodentodigital Syndrome |
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Vesicoureteral reflux, Scoliosis, Renal hypoplasia, Hydronephrosis |
ORPHA:2363 |
Liver Disease, Severe Congenital |
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Recurrent urinary tract infections, Hypospadias, Pneumonia, Poor fine motor coordination, Aminoac... |
OMIM:619991 |
Classical Ehlers-Danlos Syndrome |
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Bladder diverticulum, Scoliosis |
ORPHA:287 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Dark urine, Renal insufficiency, Asthma, Dilatation of the renal pelvis, Stage 5 chronic kidney d... |
OMIM:619534 |
Hydrolethalus Syndrome 1 |
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Stillbirth, Hypospadias, Hydronephrosis |
OMIM:236680 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Ureteral duplication, Glycosuria |
OMIM:600001 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Respiratory distress, Thoracolumbar scoliosis, Hydronephrosis, Scoliosis, Renal dysplasia |
ORPHA:480880 |
Viss Syndrome |
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Dyspnea, Asthma, Pneumothorax, Kyphosis, Scoliosis, Pulmonary arterial hypertension, Emphysema, H... |
OMIM:619472 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Asthma, Recurrent pneumonia, Hydronephrosis |
OMIM:620330 |
Robinow Syndrome, Autosomal Dominant 1 |
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Micropenis, Hydronephrosis, Renal duplication |
OMIM:180700 |
Genitopatellar Syndrome |
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Micropenis, Multicystic kidney dysplasia, Hydronephrosis, Scoliosis |
OMIM:606170 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Spasticity, Poor fine motor coor... |
ORPHA:261537 |
Charge Syndrome |
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Renal agenesis, Hemivertebrae, Renal hypoplasia, Horseshoe kidney, Scoliosis, Micropenis, Hydrone... |
OMIM:214800 |
Mowat-Wilson Syndrome |
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Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Ataxia, Abnormality of the kidne... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Spasticity, Poor fine motor coor... |
ORPHA:261552 |
Vascular Ehlers-Danlos Syndrome |
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Hypospadias, Pneumothorax, Cystocele, Renovascular hypertension, Respiratory insufficiency, Bladd... |
ORPHA:286 |
Meckel Syndrome, Type 1 |
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Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Polycystic kidney dysplasia... |
OMIM:249000 |
Johanson-Blizzard Syndrome |
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Hypospadias, Urethrovaginal fistula, Death in childhood, Micropenis, Hydronephrosis |
OMIM:243800 |
Perlman Syndrome |
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Tall stature |
ORPHA:2849 |
Perlman Syndrome |
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Nephroblastoma, Nephrogenic rest, Nephroblastomatosis, Renal hamartoma |
OMIM:267000 |
Nephroblastoma |
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Hematuria, Nephroblastoma |
ORPHA:654 |