Spastic Ataxia 3, Autosomal Recessive |
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Cerebellar atrophy, Spastic ataxia, Neurogenic bladder, Ataxia, Dysmetria, Gait ataxia, Urinary u... |
OMIM:611390 |
Congenital Disorder Of Glycosylation, Type Iii |
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Cerebellar atrophy, Neurogenic bladder, Truncal ataxia, Cerebral atrophy, Atrophy/Degeneration af... |
OMIM:613612 |
Polyglucosan Body Neuropathy, Adult Form |
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Neurogenic bladder, Urinary incontinence, Spastic paraplegia, Distal sensory impairment, Paresthe... |
OMIM:263570 |
Adult Polyglucosan Body Disease |
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Neurogenic bladder, Ataxia, Urinary incontinence, Abnormal pyramidal sign, Distal sensory impairm... |
ORPHA:206583 |
Autosomal Recessive Spastic Paraplegia Type 78 |
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Cerebellar atrophy, Neurogenic bladder, Babinski sign, Abnormal pyramidal sign, Progressive cereb... |
ORPHA:513436 |
Diaminopentanuria |
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Ataxia, Cystinuria, Hyperlysinuria, Neurodegeneration, Spasticity |
OMIM:222350 |
Machado-Joseph Disease Type 3 |
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Cerebellar atrophy, Dilated fourth ventricle, Abnormal lower motor neuron morphology, Neurogenic ... |
ORPHA:276244 |
Machado-Joseph Disease Type 1 |
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Cerebellar atrophy, Dilated fourth ventricle, Neurogenic bladder, Substantia nigra gliosis, Facia... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
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Cerebellar atrophy, Dilated fourth ventricle, Neurogenic bladder, Substantia nigra gliosis, Facia... |
ORPHA:276241 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
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Neurogenic bladder, Amyotrophic lateral sclerosis, Ataxia, Parkinsonism, Babinski sign, Cerebral ... |
OMIM:615911 |
Urofacial Syndrome 2 |
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Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Spastic Paraplegia 72, Autosomal Recessive |
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Ataxia, Spastic paraplegia, Impaired vibration sensation in the lower limbs, Babinski sign, Hoffm... |
OMIM:615625 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
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Cerebellar atrophy, Neurogenic bladder, Involuntary movements, Abnormal pyramidal sign, Dysmetria... |
OMIM:619780 |
Congenital Megacalycosis |
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Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
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Urinary incontinence, Rigidity, Babinski sign, Astrocytosis, Gait disturbance, Myoclonus, Neurona... |
OMIM:600795 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
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Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
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Impaired vibratory sensation, Neurogenic bladder, Mitochondrial hypertrophy, Babinski sign, Impai... |
OMIM:500013 |
Renal Dysplasia |
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Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Mitochondrial Complex I Deficiency, Nuclear Type 27 |
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Neurogenic bladder, Ataxia, Spastic tetraplegia |
OMIM:618248 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
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Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Dibasic Amino Aciduria I |
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Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria |
OMIM:222690 |
Hemangioblastoma |
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Dysesthesia, Cerebellar edema, Neurogenic bladder, Cerebellar hemangioblastoma |
ORPHA:252054 |
Wolfram Syndrome 1 |
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Neurogenic bladder, Hydroureter, Ataxia, Tremor, Cerebral atrophy, Testicular atrophy, Hydronephr... |
OMIM:222300 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
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Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity |
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Incoordination, Paresthesia, Homocystinuria, Gait disturbance |
OMIM:236250 |
Cog5-Cdg |
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Cerebellar atrophy, Hepatomegaly, Diffuse cerebral atrophy, Neurogenic bladder, Elevated hepatic ... |
ORPHA:263487 |
Familial Infantile Bilateral Striatal Necrosis |
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Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Spasticity, Gait ataxia, Choreoathetosis, ... |
ORPHA:225154 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
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Cerebellar atrophy, Lower limb spasticity, Ataxia, Urinary incontinence, Spastic tetraparesis, Ba... |
OMIM:612319 |
Nephrotic Syndrome, Type 6 |
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Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Camos Syndrome |
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Renal insufficiency, Ataxia, Spasticity, Nephrotic syndrome, Brain atrophy, Aplasia/Hypoplasia of... |
ORPHA:83472 |
Becker Muscular Dystrophy |
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Elevated hepatic transaminase, Abnormal urinary color, Tip-toe gait, Falls, Difficulty walking, M... |
ORPHA:98895 |
Iminoglycinuria |
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Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
OMIM:242600 |
X-Linked Adrenoleukodystrophy |
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Somatic sensory dysfunction, Neurogenic bladder, Incoordination, Paralysis, Paraparesis, Progress... |
ORPHA:43 |
Saccharopinuria |
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Citrullinuria, Hyperlysinuria, Histidinuria, Saccharopinuria |
OMIM:268700 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
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Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Pelizaeus-Merzbacher Disease In Female Carriers |
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Lower limb spasticity, Neurogenic bladder, Inability to walk, Babinski sign, Gait disturbance, Di... |
ORPHA:280229 |
Hyperprolinemia, Type I |
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Hydroxyprolinuria, Ataxia, Hyperglycinuria, Prolinuria |
OMIM:239500 |
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
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Cerebellar atrophy, Increased urine alpha-ketoglutarate concentration, Increased urine succinate ... |
OMIM:618384 |
Foix-Alajouanine Syndrome |
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Somatic sensory dysfunction, Neurogenic bladder, Urinary incontinence, Dysesthesia, Progressive s... |
ORPHA:79093 |
Hyperprolinemia, Type Ii |
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Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
OMIM:239510 |
Cystinuria |
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Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
Endove Syndrome, Limb-Brain Type |
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Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections, Cerebellar agenesis |
OMIM:619218 |
Porphyria Variegata |
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Elevated hepatic transaminase, Neurogenic bladder, Somatic sensory dysfunction, Chronic kidney di... |
ORPHA:79473 |
Autosomal Recessive Spastic Paraplegia Type 77 |
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Lower limb spasticity, Neurogenic bladder, Detrusor sphincter dyssynergia, Urinary incontinence, ... |
ORPHA:466722 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
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Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Peroxisome Biogenesis Disorder 10B |
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Nephrocalcinosis, Neurogenic bladder, Spastic paraplegia |
OMIM:617370 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
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Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Neuraminidase Deficiency |
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Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Increased urinary O-... |
OMIM:256550 |
Stimmler Syndrome |
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Aminoaciduria, Ataxia |
ORPHA:3199 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
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Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
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Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
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Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Sporadic Creutzfeldt-Jakob Disease |
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Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Gliosis, Myoclonu... |
ORPHA:204 |
Hartnup Disorder |
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Episodic ataxia, Hypertonia, Neutral hyperaminoaciduria |
OMIM:234500 |
Sialidosis Type 1 |
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Urinary excretion of sialylated oligosaccharides, Ataxia, Tremor, Increased urinary O-linked sial... |
ORPHA:812 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
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Cerebellar atrophy, Lower limb spasticity, Ataxia, Urinary incontinence, Spastic paraplegia, Impa... |
OMIM:607565 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
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Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Hsd10 Disease |
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Elevated urinary 3-hydroxybutyric acid, Ataxia, Tremor, Rigidity, Choreoathetosis, Frontotemporal... |
ORPHA:391417 |
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria |
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Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria, Attention deficit hyperactivity disorder |
OMIM:204750 |
Inherited Creutzfeldt-Jakob Disease |
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Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
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Cerebellar atrophy, Neurogenic bladder, Oromotor apraxia, Hepatosplenomegaly, Spasticity |
ORPHA:466934 |
Sulfite Oxidase Deficiency, Isolated |
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Sulfocysteinuria, Ataxia, Increased urinary sulfite level, Cerebral atrophy, Fine hair, Choreoath... |
OMIM:272300 |
Iminoglycinuria |
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Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
ORPHA:42062 |
Arima Syndrome |
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Dilated fourth ventricle, Hepatomegaly, Agenesis of cerebellar vermis, Cerebellar vermis hypoplas... |
OMIM:243910 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
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Recurrent urinary tract infections, Fetal pyelectasis, Megacystis, Nephrolithiasis |
OMIM:619365 |
Duplication Of Urethra |
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Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
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Appendicular spasticity, Neurogenic bladder, Hypoplasia of the pons, Cerebellar hypoplasia, Myocl... |
OMIM:617669 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
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Neurogenic bladder, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
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Nephrocalcinosis, Inability to walk, Difficulty walking, Astrocytosis |
OMIM:611087 |
L-2-Hydroxyglutaric Aciduria |
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Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Abnormal pyramidal sig... |
OMIM:236792 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
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Ataxia, Spastic tetraparesis, Hemiplegia/hemiparesis, Aminoaciduria, Spasticity |
ORPHA:833 |
Adenine Phosphoribosyltransferase Deficiency |
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Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Nephronophthisis 3 |
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Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Leukodystrophy, Progressive, Early Childhood-Onset |
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Appendicular spasticity, Cerebral atrophy, Neurogenic bladder, Thick eyebrow |
OMIM:617762 |
Spastic Paraplegia 30, Autosomal Dominant |
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Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Dysmetria, ... |
OMIM:610357 |
X-Linked Intellectual Disability, Schimke Type |
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Choreoathetosis, Hydronephrosis, Vesicoureteral reflux, Spasticity, Cerebral cortical atrophy |
ORPHA:85285 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
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Cerebellar atrophy, Neurogenic bladder, Ataxia, Urinary incontinence, Sparse eyebrow, Tetraplegia... |
ORPHA:496641 |
Joubert Syndrome 35 |
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Multicystic kidney dysplasia, Cerebellar vermis hypoplasia, Ataxia, Recurrent urinary tract infec... |
OMIM:618161 |
Hartnup Disease |
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Abnormal urinary color, Ataxia, Neutral hyperaminoaciduria |
ORPHA:2116 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
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Impaired vibratory sensation, Hepatomegaly, Clonus, Poor coordination, Spastic gait, Abnormal pyr... |
OMIM:238970 |
Hyperprolinemia Type 1 |
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Nephropathy, Proteinuria, Prolinuria |
ORPHA:419 |
Nephronophthisis 1 |
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Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Parkinsonian-Pyramidal Syndrome |
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Neurogenic bladder, Substantia nigra gliosis, Parkinsonism, Rigidity, Babinski sign, Abnormal pyr... |
ORPHA:171695 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
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Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Pontoc... |
OMIM:618060 |
Fanconi Renotubular Syndrome 5 |
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Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis |
OMIM:618913 |
Adenine Phosphoribosyltransferase Deficiency |
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2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
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Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
Adrenomyodystrophy |
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Hepatic steatosis, Abnormality of the urinary system, Megacystis |
ORPHA:977 |
Hereditary Coproporphyria |
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Dark urine, Hepatocellular carcinoma, Extension of hair growth on temples to lateral eyebrow, Por... |
ORPHA:79273 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
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Aplasia/Hypoplasia of the cerebellum, Neurogenic bladder, Involuntary movements, Spasticity |
ORPHA:572013 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Hepatomegaly, Renal insufficiency, Primary testicular failure, Proteinuria, Renal interstitial am... |
ORPHA:85450 |
Brain-Lung-Thyroid Syndrome |
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Incoordination, Ataxia, Hypospadias, Involuntary movements, Chorea, Megacystis, Clumsiness, Chore... |
ORPHA:209905 |
Hyperlysinemia, Type I |
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Short attention span, Hyperlysinuria, Cognitive impairment |
OMIM:238700 |
Renal Tubular Dysgenesis |
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Renotubular dysgenesis, Abnormality of the urinary system, Anuria |
OMIM:267430 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
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Elevated hepatic transaminase, Chronic kidney disease, Abnormal tubulointerstitial morphology, Ch... |
OMIM:602114 |
Ring Chromosome 8 Syndrome |
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Abnormality of the ureter, Hydronephrosis, Low posterior hairline |
ORPHA:1450 |
Spinocerebellar Ataxia 17 |
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Cerebellar atrophy, Diffuse cerebral atrophy, Broad-based gait, Ataxia, Urinary incontinence, Par... |
OMIM:607136 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Cerebellar atrophy, Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski ... |
OMIM:617225 |
Dent Disease |
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Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... |
ORPHA:1652 |
2p15-16.1 microdeletion syndrome |
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Hydronephrosis |
DECIPHER:70 |
Schindler Disease, Type I |
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Increased urinary O-linked sialopeptides, Spasticity, Myoclonus |
OMIM:609241 |
Congenital Primary Megaureter |
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Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Succinic Semialdehyde Dehydrogenase Deficiency |
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Cerebellar atrophy, Elevated urinary 4-hydroxybutyric acid, Ataxia, Increased level of gamma-amin... |
OMIM:271980 |
Dystonia-Aphonia Syndrome |
|
Cerebellar atrophy, Abnormal mitochondrial shape, Unsteady gait, Cerebral atrophy, Abnormal urina... |
ORPHA:412217 |
Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria, Ataxia, Jaundice, Hepatosplenomegaly |
ORPHA:33574 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Cerebral cortical neurodegeneration, Hyp... |
OMIM:203700 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... |
ORPHA:228302 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Leukodystrophy, Hypomyelinating, 12 |
|
Cerebellar atrophy, Neurogenic bladder, Spasticity |
OMIM:616683 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
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Neurogenic bladder, Hypoplasia of the pons, Vocal cord paralysis, Myoclonus, Spasticity, Cerebral... |
ORPHA:500144 |
Hyper-Beta-Alaninemia |
|
Increased urinary taurine, Failure to thrive |
OMIM:237400 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Cerebellar atrophy, Hepatomegaly, Neurogenic bladder, Elevated circulating aspartate aminotransfe... |
OMIM:608779 |
Harderoporphyria |
|
Hepatomegaly, Increased urine harderoporphyrin level, Splenomegaly, Red urine, Increased urinary ... |
OMIM:618892 |
Glutathione Synthetase Deficiency |
|
Increased level of L-pyroglutamic acid in urine, Ataxia, Spastic tetraparesis, Intention tremor |
OMIM:266130 |
Dubin-Johnson Syndrome |
|
Abnormal urinary color, Hepatomegaly, Jaundice, Biliary tract abnormality, Abnormality of the liver |
ORPHA:234 |
Genetic Recurrent Myoglobinuria |
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Dark urine, Elevated hepatic transaminase, Renal insufficiency, Recurrent myoglobinuria, Exercise... |
ORPHA:99845 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Dry hair, Renal insufficiency, Neurogenic bladder, H... |
ORPHA:90324 |
Lysine Malabsorption Syndrome |
|
Renal tubular lysine transport defect, Hyperlysinuria |
OMIM:247950 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
Ichthyosis, Split Hairs, And Amino Aciduria |
|
Abnormal hair morphology, Aminoaciduria |
OMIM:242550 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Cryptorchidism, Hyposthenuria, Vesicoureteral reflux, Spasticity, Hydronephrosis |
OMIM:615926 |
Saccharopinuria |
|
Citrullinuria, Tremor, Spastic diplegia, Cystinuria, Distal sensory impairment, Gait ataxia, Hype... |
ORPHA:3124 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Elevated... |
OMIM:220150 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria |
OMIM:230350 |
Camptodactyly-Taurinuria Syndrome |
|
Increased urinary taurine, Aminoaciduria |
ORPHA:1325 |
Macdermot-Winter Syndrome |
|
Frontal upsweep of hair, Low anterior hairline, Hydronephrosis, Highly arched eyebrow |
OMIM:247990 |
Glutathionuria |
|
Urinary incontinence, Tremor, Dysdiadochokinesis, Glutathionuria, Action tremor |
OMIM:231950 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Inability to walk, Aminoaciduria, Loss of ability to walk in early childhood, Cerebral atrophy |
OMIM:609560 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Megacystis, Polyuria |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Megacystis, Polyuria |
OMIM:304800 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Impaired vibratory sensation, Neurogenic bladder, Ataxia, Chaddock reflex, Impaired proprioceptio... |
ORPHA:96180 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Patent ductus arteriosus, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Rena... |
OMIM:619351 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Hemiparesis, Ac... |
OMIM:235400 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... |
OMIM:263200 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Aminoaciduria, Proximal tubulopathy, Gait ataxia |
OMIM:612075 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:567548 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... |
OMIM:231680 |
Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Cholestasis, Green urine |
OMIM:614156 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Blue urine, Elevated hepatic transaminase |
ORPHA:94086 |
Cockayne Syndrome |
|
Dry hair, Urinary incontinence, Progressive gait ataxia, Hypertonia, Gliosis, Intention tremor, H... |
ORPHA:191 |
Glycogen Storage Disease Iv |
|
Portal hypertension, Hepatosplenomegaly, Cirrhosis, Hepatic failure, Tubulointerstitial fibrosis |
OMIM:232500 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Cerebellar vermis hypoplasia, Red-brown urine, Stage 5 chronic kidney disease, Rena... |
ORPHA:157 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Threoninemia |
|
Hyperthreoninuria |
OMIM:273770 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:656 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria, Failure to thrive |
ORPHA:2278 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration |
OMIM:610951 |
Spinocerebellar Ataxia 42 |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Urinary incontinence, Tremor, Loss of Purkinje cells ... |
OMIM:616795 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta... |
ORPHA:97362 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Renal cy... |
ORPHA:79303 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Ataxia, Head titubation, Dysmetria, Aminoaciduria, Myoclonus, Truncal ataxia |
OMIM:250620 |
Acute Intermittent Porphyria |
|
Dark urine, Renal insufficiency, Somatic sensory dysfunction, Urinary incontinence, Dysuria, Trem... |
ORPHA:79276 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated hepatic transaminase, Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, E... |
ORPHA:340 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Impaired vibratory sensation, Cerebe... |
ORPHA:98 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Chorea, Methylmalonic aciduria, Choreoathetosis, Athetosis, Homocystinuria |
OMIM:309541 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Portal hypertension, Megacystis, Hepatic failure, Hydronephrosis |
OMIM:619431 |
Dent Disease 2 |
|
Elevated circulating aspartate aminotransferase concentration, Chronic kidney disease, Elevated c... |
OMIM:300555 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Tubulointerstitial fibrosis |
OMIM:263000 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Aminoaciduria, Jaundice |
ORPHA:79238 |
5-Oxoprolinase Deficiency |
|
Increased level of L-pyroglutamic acid in urine, Prolinuria, Calcium oxalate nephrolithiasis |
OMIM:260005 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Cerebellar vermis hypoplasia, Dicarboxylic aciduria, Red-brown... |
ORPHA:228308 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut... |
ORPHA:368 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Camptodactyly 1 |
|
Increased urinary taurine |
OMIM:114200 |
Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
Hemolytic Anemia, Congenital, X-Linked |
|
Dark urine, Jaundice |
OMIM:301015 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly, Aminoaciduria |
ORPHA:417 |
Lipoyltransferase 1 Deficiency |
|
Cerebellar atrophy, Elevated hepatic transaminase, Spastic tetraparesis, Lacticaciduria, Alaninur... |
OMIM:616299 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Glutaric aciduria, Inability to ... |
ORPHA:26791 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Alaninuria, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated c... |
OMIM:615158 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Red-brown urine, Myoglobinuria, Hepatic failure, Hep... |
ORPHA:228305 |
Cold Agglutinin Disease |
|
Splenomegaly, Abnormal urinary color, Hepatomegaly |
ORPHA:56425 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Trichorrhexis nodosa, Neurogenic bladder, Highly arched eyebrow |
OMIM:619173 |
Homocarnosinosis |
|
Spastic paraplegia, Carnosinuria |
OMIM:236130 |
Sarcosinemia |
|
Hypersarcosinuria, Ataxia, Tetraparesis |
ORPHA:3129 |
Carnosinase Deficiency |
|
Carnosinuria |
ORPHA:1361 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis |
OMIM:619362 |
Aspartylglucosaminuria |
|
Hepatomegaly, Aspartylglucosaminuria, Cerebral atrophy, Macroorchidism, Spasticity |
OMIM:208400 |
Valinemia |
|
Valinuria, Failure to thrive |
OMIM:277100 |
Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
Carnosinemia |
|
Carnosinuria |
OMIM:212200 |
Hydroxylysinuria |
|
Hyperlysinuria |
OMIM:236900 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
Indolylacroyl Glycinuria With Mental Retardation |
|
Hyperglycinuria |
OMIM:243050 |
Behavioral Variant Of Frontotemporal Dementia |
|
Astrocytosis, Frontotemporal cerebral atrophy, Gait disturbance, Fasciculations, Abnormality of e... |
ORPHA:275864 |
Gracile Syndrome |
|
Aminoaciduria, Cholestasis |
OMIM:603358 |
Oculodentodigital Dysplasia |
|
Curly hair, Neurogenic bladder, Brittle hair, Slow-growing hair, Ataxia, Fine hair, Gait disturba... |
ORPHA:2710 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Copper accumulation in liver, Cerebral atrophy, Ami... |
OMIM:614946 |
Phosphohydroxylysinuria |
|
Phosphohydroxylysinuria |
OMIM:615011 |
Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
Glycogen Storage Disease V |
|
Dark urine, Myoglobinuria |
OMIM:232600 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Ataxia, Proteinuria, Spastic tetraparesis, Abnormal pyramidal si... |
ORPHA:436271 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cerebellar atrophy, Cryptorchidism, Patent ductus arteriosus, Cerebral atrophy, Frontal upsweep o... |
OMIM:619797 |
Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
Hydroxykynureninuria |
|
Aminoaciduria, Jaundice |
OMIM:236800 |
Joubert Syndrome 4 |
|
Renal insufficiency, Cerebellar vermis hypoplasia, Ataxia, Abnormal renal medulla morphology, Sta... |
OMIM:609583 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Increased urinary porphobilinogen, Purple urine, Difficulty walking |
ORPHA:100924 |
Familial Visceral Myopathy |
|
Vesicoureteral reflux, Hydroureter, Megacystis, Abdominal situs inversus |
ORPHA:2604 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Cystathioninuria |
|
Tremor, Cystathioninuria, Nephrolithiasis |
ORPHA:212 |
Narcolepsy Type 1 |
|
Transient global amnesia, Obesity |
ORPHA:2073 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating aspartate aminotransferase concentration, Elevated circ... |
OMIM:619386 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Generalized aminoaciduria |
OMIM:606528 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Urinary incontinence, Tremor, Abnormal pyramidal sign, Limb ataxia, D... |
OMIM:617145 |
Adrenoleukodystrophy |
|
Alopecia, Incoordination, Urinary incontinence, Paraparesis, Spastic paraplegia, Slurred speech, ... |
OMIM:300100 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... |
ORPHA:882 |
3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria, Failure to thrive |
OMIM:236795 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dicarboxylic aciduria, Hepatic necrosis, Myoglobinuria, Hepatic steatosis |
OMIM:231530 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Abnormal urinary color |
ORPHA:90037 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Aminoaciduria, Ataxia, Generalized hirsutism, Methylmalonic aciduria |
ORPHA:1933 |
Hyperglycinuria |
|
Hyperglycinuria, Calcium oxalate nephrolithiasis |
OMIM:138500 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Ureterocele, Vesicoureteral reflux, Micropenis, Sparse eyebrow, Cryptorchidism, Megacystis, Spars... |
OMIM:604292 |
Leigh Syndrome |
|
Ataxia, Hepatocellular necrosis, Gliosis, Spasticity, Hypertrichosis |
OMIM:256000 |
Congenital Myopathy 19 |
|
Cryptorchidism, Renal atrophy, Gait disturbance, Hydronephrosis |
OMIM:618578 |
Visceral Myopathy 1 |
|
Megacystis, Hydronephrosis, Urinary retention, Vesicoureteral reflux, Pancreatitis |
OMIM:155310 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... |
OMIM:617672 |
Williams-Beuren Region Duplication Syndrome |
|
Speech apraxia, Cerebellar vermis hypoplasia, Unilateral renal agenesis, Cryptorchidism, Patent d... |
OMIM:609757 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria, Hyper... |
OMIM:604273 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Cerebellar atrophy, Incoordination, Ataxia, Clonus, Cerebral atrophy, Tetraplegia, Choreoathetosi... |
OMIM:616034 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Alopecia, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Abnormalit... |
ORPHA:93552 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Loss of ability to walk in early childhood, Inability to walk, Methylmalonic aciduria, Cerebral a... |
OMIM:612073 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Poor coordination, Gait disturbance, Homocystinuria, Cerebral atrophy |
OMIM:250940 |
Megabladder, Congenital |
|
Multiple glomerular cysts, Patent ductus arteriosus, Stage 5 chronic kidney disease, Fetal megacy... |
OMIM:618719 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Obesity |
OMIM:615991 |
Chromosome 15Q25 Deletion Syndrome |
|
Cryptorchidism, Synophrys, Dilatation of renal calices, Polysplenia |
OMIM:614294 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Peritonitis, Elevated circulating creatinine concentration, Hemoglobinuria, Acute kidney ... |
ORPHA:90038 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Patent ductus arteriosus, Renal hypoplasia, Hepatic steatosis, Hydronephrosis |
OMIM:615996 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Methylmalonic aciduria, Cerebral atrophy, Hypertonia, Gait disturbance, Hyperkinetic movements, H... |
OMIM:236270 |
Coach Syndrome 3 |
|
Renal insufficiency, Ataxia, Oculomotor apraxia, Stage 5 chronic kidney disease, Portal fibrosis,... |
OMIM:619113 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Gait apraxia, Ba... |
OMIM:615157 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Obesity |
OMIM:615995 |
Lateral Meningocele Syndrome |
|
Neurogenic bladder, Cryptorchidism, Patent ductus arteriosus, Chiari type I malformation, Coarse ... |
OMIM:130720 |
Spinocerebellar Ataxia Type 19/22 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Urinary incontinence, Poor coordination, Slurred sp... |
ORPHA:98772 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Neurogenic bladder, Cerebral palsy, Inability to walk, Myoclonus, Hemiplegia, Ureteropelvic junct... |
OMIM:616973 |
Oculodentodigital Dysplasia |
|
Dry hair, Neurogenic bladder, Slow-growing hair, Ataxia, Paraparesis, Fine hair, Tetraparesis, Sp... |
OMIM:164200 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color |
ORPHA:90036 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Jaundice, Nephroc... |
OMIM:613404 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity, Cognitive impairment |
OMIM:619058 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Patent ductus arteriosu... |
OMIM:620327 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Fucosidosis |
|
Hepatomegaly, Splenomegaly, Glycopeptiduria, Cerebral atrophy, Oligosacchariduria, Spastic tetrap... |
OMIM:230000 |
Infection-Related Hemolytic Uremic Syndrome |
|
Anuria, Pancreatitis, Oliguria, Hemiparesis, Acute kidney injury, Nephrotic range proteinuria, De... |
ORPHA:544482 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria |
OMIM:249650 |
Aspartylglucosaminuria |
|
Macroorchidism, Hepatomegaly, Aspartylglucosaminuria, Splenomegaly |
ORPHA:93 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Abnormal urinary color, Jaundice |
ORPHA:90033 |
Visceral Myopathy 2 |
|
Megacystis |
OMIM:619350 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Babinski sign, Gait ataxia, Elevated ur... |
OMIM:620089 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Ataxia, Postural tremor,... |
OMIM:615491 |
Wiedemann-Steiner Syndrome |
|
Synophrys, Long eyelashes, Congenital, generalized hypertrichosis, Dilatation of renal calices, G... |
ORPHA:319182 |
Bardet-Biedl Syndrome 5 |
|
Micropenis, Obesity, Cognitive impairment |
OMIM:615983 |
Tbck-Related Intellectual Disability Syndrome |
|
Thick eyebrow, Neurogenic bladder, Cryptorchidism, Synophrys, Inability to walk, Hirsutism, Globa... |
ORPHA:488632 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Hyperprolinemia Type 2 |
|
Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Dysesthesia, Unsteady gai... |
ORPHA:79101 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc... |
OMIM:236730 |
Microscopic Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Peritonitis, Oliguria, Hematuria, Paresthesia, Pancreatitis |
ORPHA:727 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Synophrys, Hirsutism, Pelvic kidney, Dilatation of renal calices, Thick eyebrow |
ORPHA:466950 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Ataxia, Proteinuria, Renal tubular dysfunction, Glycosuria, Amin... |
OMIM:220110 |
Bardet-Biedl Syndrome 11 |
|
Obesity, Abnormality of the kidney |
OMIM:615988 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Un... |
OMIM:609270 |
Orofaciodigital Syndrome Xv |
|
Cerebellar vermis hypoplasia, Hydronephrosis |
OMIM:617127 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Apraxia, Spasticity |
OMIM:615889 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Dilatation of renal calices, Synophrys, Pelvic kidney, Poor coordination |
ORPHA:466943 |
Argininosuccinic Aciduria |
|
Abnormal hair quantity, Ataxia, Aminoaciduria, Oroticaciduria, Trichorrhexis nodosa |
ORPHA:23 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
Spinocerebellar Ataxia 2 |
|
Urinary incontinence, Dysmetria, Urinary bladder sphincter dysfunction, Impaired vibratory sensat... |
OMIM:183090 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Chiari type II malformation, Neurogenic bladder |
OMIM:613686 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Impaired vibratory sensation, Speech apraxia, Dysuria, Abnormal cerebellum morphology, Babinski s... |
ORPHA:101000 |
Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Spastic diplegia, Cerebral atr... |
ORPHA:391428 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cryptorchidism, Aminoaciduria, Ataxia |
OMIM:249270 |
Paroxysmal Cold Hemoglobinuria |
|
Abnormal urinary color, Hemoglobinuria |
ORPHA:90035 |
Glutamate Formiminotransferase Deficiency |
|
Aminoaciduria, Elevated urinary formiminoglutamic acid level |
OMIM:229100 |
Leigh Syndrome |
|
Chorea, Choreoathetosis, Complex organic aciduria, Gliosis, Frontal hirsutism, Alopecia, Ataxia, ... |
ORPHA:506 |
Image Syndrome |
|
Cryptorchidism, Hypospadias, Hydronephrosis |
ORPHA:85173 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Rigidity, Splenomegaly, Microno... |
ORPHA:309854 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Hepatocellular necrosis, Per... |
OMIM:201475 |
Galactosemia I |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:230400 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Ataxia, Proteinuria |
OMIM:603585 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria |
OMIM:204730 |
Wiedemann-Rautenstrauch Syndrome |
|
Tremor, Synophrys, Wide penis, Chiari type I malformation, Hypertonia, Vesicoureteral reflux, Spa... |
ORPHA:3455 |
Hypertryptophanemia |
|
Tryptophanuria |
OMIM:600627 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Portal hypertension, Abnormal pyramidal sign, Renal tubular dys... |
ORPHA:213 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
Cat-Eye Syndrome |
|
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
Systemic Capillary Leak Syndrome |
|
Pancreatitis, Renal insufficiency, Oliguria, Abnormal renal tubule morphology |
ORPHA:188 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Brittle hair, Ataxia, Splenomegaly, Cerebral atrophy, Nephrocalcinosis, Aminoaciduria |
OMIM:616084 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis |
OMIM:616963 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Obesity, Renal cyst |
OMIM:615987 |
Argininemia |
|
Hemiplegia/hemiparesis, Diaminoaciduria, Progressive spastic quadriplegia |
ORPHA:90 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Obesity, Renal cyst, Cogniti... |
OMIM:615993 |
Zaki Syndrome |
|
Dilated fourth ventricle, Sparse scalp hair, Cerebellar vermis hypoplasia, Renal agenesis, Sparse... |
OMIM:619648 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Cerebellar atrophy, Ataxia, Polyuria, Renal salt wasting, Enuresis, Dysdiadochokinesis, Intention... |
OMIM:612780 |
8P23.1 Duplication Syndrome |
|
Hydronephrosis, Highly arched eyebrow |
ORPHA:251076 |
Joubert Syndrome 37 |
|
Hepatomegaly, Cerebellar vermis hypoplasia, Cryptorchidism, Oculomotor apraxia, Hydronephrosis, S... |
OMIM:619185 |
Machado-Joseph Disease |
|
Cerebellar atrophy, Impaired vibratory sensation, Dilated fourth ventricle, Ataxia, Parkinsonism,... |
OMIM:109150 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Obesity, Ventriculomegaly |
OMIM:300209 |
Split Cord Malformation |
|
Neurogenic bladder, Renal duplication, Urinary incontinence, Hypospadias, Detrusor sphincter dyss... |
ORPHA:573278 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Xanthine nephrolithiasis, Spastic tetraparesis, Increased urinary sulfite level, Absent urinary u... |
OMIM:252150 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... |
ORPHA:30391 |
Glycine Encephalopathy 1 |
|
Hyperglycinuria, Myoclonus |
OMIM:605899 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... |
OMIM:208085 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hypertonia, Hydroureter, Hydronephrosis, Myoclonus |
OMIM:618240 |
Trisomy 5P |
|
Hypoplasia of penis, Obesity, Ventriculomegaly, Renal hypoplasia/aplasia |
ORPHA:1742 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Appendicular spasticity, Cerebellar vermis hypoplasia, Unilateral renal agenesis, Cryptorchidism,... |
OMIM:618494 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Increased level of L-pyroglutamic acid in urine |
OMIM:231900 |
Ochoa Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Urinary incontinence, Cryptorchidism, Ur... |
ORPHA:2704 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Aminoaciduria |
ORPHA:147 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Inability to walk, Splenomegaly, Renal hypoplasia, Spasticity, Nephrocalcinosis, Aminoaciduria, R... |
OMIM:617913 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Oliguria, Hepatic failure |
ORPHA:159 |
Focal Cortical Dysplasia, Type Ii |
|
Hemiparesis, Astrocytosis |
OMIM:607341 |
Recombinant Chromosome 8 Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Cerebral atrophy, Low posterior hairline, Hypertonia, H... |
OMIM:179613 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Methionine Malabsorption Syndrome |
|
Aminoaciduria, White hair |
OMIM:250900 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral... |
OMIM:256600 |
D-Glyceric Aciduria |
|
Chorea, Hyperglycinuria, Myoclonus, Brain atrophy, Spasticity |
ORPHA:941 |
Argininemia |
|
Cerebellar atrophy, Hepatomegaly, Micronodular cirrhosis, Cholestasis, Progressive spastic quadri... |
OMIM:207800 |
6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Hydronephrosis |
ORPHA:251046 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Ataxia, Slurred speech, Renal tubular epithelial necrosis, Renal tubular dys... |
ORPHA:31826 |
Netherton Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Ectopic kidney, Sparse eyebrow, Abnormal hair morphology, Fi... |
ORPHA:634 |
Myasthenic Syndrome, Congenital, 22 |
|
Waddling gait, Cystinuria |
OMIM:616224 |
Tryptophanuria With Dwarfism |
|
Ataxia, Gait disturbance, Tryptophanuria |
OMIM:276100 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... |
ORPHA:3467 |
Hypercalcemia, Infantile, 1 |
|
Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalcinosis |
OMIM:143880 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Elevated circulating aspartate aminotransferase concentration, H... |
ORPHA:2088 |
Hypotonia-Cystinuria Syndrome |
|
Nephrolithiasis, Cystinuria |
ORPHA:163690 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
Kanzaki Disease |
|
Increased urinary O-linked sialopeptides, Axonal degeneration, Cerebral atrophy, Distal sensory i... |
OMIM:609242 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Urinary incontinence, Parkinsonism, Tremor, Rigidity, Babinski sign, Urinary urgency, Bra... |
OMIM:146500 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Hypertyrosinemia, Elevated hepatic transaminase, Brittle hair, Ataxia, Cholan... |
OMIM:124000 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Proteinuria, Nephrolithiasis, Stage 5 chronic kidney disease, Hepatocellular adenom... |
ORPHA:79259 |
Yellow Fever |
|
Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating aspartate aminotransferase ... |
ORPHA:99829 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Cerebellar atrophy, Ureteral duplication, Renal dysplasia, Ureteral hypoplasia, Bladder trabecula... |
OMIM:614080 |
2P21 Microdeletion Syndrome |
|
Long eyelashes, Nephrolithiasis, Cystinuria |
ORPHA:163693 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Ataxia, Polyuria, Proximal tubulopathy, Myoclonus |
OMIM:560000 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Impaired histidine renal tubular absorption, Histidinuria, Ventriculomegaly |
ORPHA:2158 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration, Gait ataxia |
ORPHA:438134 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Hepatic necrosis, My... |
ORPHA:71212 |
Gapo Syndrome |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Sparse hair, Breas... |
OMIM:230740 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Pain insensitivity, Cerebellar vermis hypoplasia, Cryptorchidism, Babinski sign, Spasticity, Retr... |
ORPHA:364028 |
Hyperlysinuria With Hyperammonemia |
|
Dibasicaminoaciduria, Hyperlysinuria |
OMIM:238750 |
Currarino Syndrome |
|
Recurrent urinary tract infections, Neurogenic bladder, Urinary incontinence, Horseshoe kidney, V... |
OMIM:176450 |
Lassa Fever |
|
Jaundice, Oliguria |
ORPHA:99824 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Dry hair, Brittle hair, Ataxia, Elevated circulating aspartate aminotransferase con... |
OMIM:207900 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Spinocerebellar Ataxia Type 8 |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Urinary incontinence, Hypoplasia of the... |
ORPHA:98760 |
3-Methylglutaconic Aciduria, Type Iv |
|
Cryptorchidism, 3-Methylglutaric aciduria, Cerebellar dysplasia |
OMIM:250951 |
Distal Duplication 6P |
|
Abnormal hair quantity, Abnormal eyelash morphology, Renal hypoplasia, Fine hair, Abnormality of ... |
ORPHA:1745 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Neurodegeneration, Gait disturbance, S... |
OMIM:615643 |
Hemochromatosis, Neonatal |
|
Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H... |
OMIM:231100 |
Wilson Disease |
|
Acute hepatic failure, Tremor, Hand tremor, Aminoaciduria, Hepatic steatosis, Hepatomegaly, Eleva... |
OMIM:277900 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Am... |
OMIM:616026 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Hepatic failure |
ORPHA:664 |
Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... |
OMIM:614817 |
D-Glyceric Aciduria |
|
Patent ductus arteriosus, Spastic tetraplegia, Spasticity, Opisthotonus, Aminoaciduria, Myoclonus... |
OMIM:220120 |
Mirizzi Syndrome |
|
Dark urine, Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Cholel... |
ORPHA:521219 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Diffuse cerebral atrophy, Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria,... |
OMIM:252160 |
Muscular Dystrophy, Cardiac Type |
|
Carnosinuria |
OMIM:309930 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Granulovacuolar degen... |
OMIM:601104 |
Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst |
OMIM:613390 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Hepatomegaly, Splenomegaly, Jaundice, Loss of eyelashes, Red urine, Cho... |
OMIM:263700 |
Hepatoerythropoietic Porphyria |
|
Scarring alopecia of scalp, Splenomegaly, Loss of eyelashes, Red-brown urine, Red urine, Paresthe... |
ORPHA:95159 |
Tetraploidy |
|
Chiari malformation, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:3305 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Focal segmental glomerulosclerosis, Neurodegeneration, Gliosis, Spasticity, N... |
OMIM:616239 |
Takenouchi-Kosaki Syndrome |
|
Cerebellar atrophy, Ataxia, Hypospadias, Highly arched eyebrow, Unilateral renal agenesis, Sparse... |
OMIM:616737 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Painless fractu... |
OMIM:256810 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Chiari type I malformation, Vesicoureteral reflux, Hydronephrosis, Renal hypoplasia |
OMIM:613735 |
Renal Glucosuria |
|
Glycosuria, Polyuria, Enuresis nocturna |
OMIM:233100 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Progressive spastic quadriplegia, Spasticity, Spastic diplegia, Tubulointerstitial fibrosis |
OMIM:607944 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Oliguria |
ORPHA:220393 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated hepatic transaminase, Ketonuria, Ataxia, Clonus, Poor coordination, Spastic tetraplegia,... |
OMIM:616878 |
Wolfram Syndrome 2 |
|
Neurogenic bladder |
OMIM:604928 |
Dermotrichic Syndrome |
|
Aminoaciduria, Nail dystrophy |
ORPHA:99688 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Beta-aminoisobutyric aciduria, Spastic tetraplegia, Cerebral atrophy |
OMIM:615330 |
Diabetic Embryopathy |
|
Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the pancreas, Apla... |
ORPHA:1926 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Acute kidney injury, Elevated circulating creatinine concentration... |
ORPHA:542323 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Cryptorchidism, Patent ductus arterio... |
OMIM:214100 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Parkinsonism, Temporal cortical atrophy, Astrocytosis, Fr... |
ORPHA:100070 |
Acute Monoblastic/Monocytic Leukemia |
|
Oliguria |
ORPHA:514 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Alopecia, Ataxia, Hepatic necrosis, Premature graying of hair, Nail dystrophy, Cerebellar hypopla... |
OMIM:127550 |
Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
Biemond Syndrome Type 2 |
|
Hydrocephalus, Hypospadias, Obesity |
ORPHA:141333 |
Xanthinuria, Type I |
|
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis |
OMIM:278300 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hepatomegaly, Elevated hepatic transaminase, Hypospadias, Cryptorch... |
OMIM:301056 |
Micro Syndrome |
|
Hypoplasia of penis, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Cryptorchidism... |
ORPHA:2510 |
Sepsis In Premature Infants |
|
Hepatomegaly, Splenomegaly, Jaundice, Oliguria, Decreased liver function, Reversible renal failure |
ORPHA:90051 |
Prune Belly Syndrome |
|
Hydroureter, Cryptorchidism, Patent ductus arteriosus, Congenital posterior urethral valve, Hydro... |
OMIM:100100 |
Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Resting tremor, Renal insufficiency, Fulminant hepatitis, Oliguria... |
ORPHA:319213 |
Trisomy 13 |
|
Abnormal eyelash morphology, Cryptorchidism, Patent ductus arteriosus, Abnormality of the ureter,... |
ORPHA:3378 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Pain insensitivity, Incoordination, Ataxia, Jaundice, Slurred spee... |
ORPHA:90062 |
Frontometaphyseal Dysplasia 2 |
|
Neurogenic bladder, Cryptorchidism, Patent ductus arteriosus, Low anterior hairline, Hirsutism, T... |
OMIM:617137 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Splenomegaly, Patent ductus arteriosus, Abnormality of the ureter, Amin... |
ORPHA:30 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Methylmalonic aciduria, Elevated urinary aminoisobutyric ... |
OMIM:614105 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma |
ORPHA:538 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Renal magnesium wasting, Nephrocalcinosis, Polyuria, Renal potassium wasting |
OMIM:618314 |
Lethal Congenital Contracture Syndrome 2 |
|
Hydronephrosis, Akinesia |
OMIM:607598 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Abnormal hair pattern, Highly arched eyebrow, Cryptorchidism, Hypertonia, Hy... |
ORPHA:2083 |
Leber Congenital Amaurosis 1 |
|
Hyperthreoninuria, Hepatomegaly |
OMIM:204000 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Attention deficit hyperactivity disorder |
OMIM:620065 |
Canavan Disease |
|
Abnormal pyramidal sign, Elevated urinary N-acetylaspartic acid level, Brain atrophy, Opisthotonus |
OMIM:271900 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Urethral stenosis, Low posterior h... |
ORPHA:261290 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Renal cyst, Abnor... |
ORPHA:1834 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Hyperkinetic movements, Gliosis, Gait disturbance, Upper limb spasticity, Micropenis, Dec... |
ORPHA:457240 |
Richards-Rundle Syndrome |
|
Hypertonia, Ketonuria, Ataxia, Gait disturbance |
ORPHA:1399 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Fetal pyelectasis, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia |
OMIM:616531 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Inability to walk, Hydronephrosis, Limb hypertonia |
ORPHA:488613 |
Familial Expansile Osteolysis |
|
Hydroxyprolinuria |
OMIM:174810 |
9Q21.13 Microdeletion Syndrome |
|
Cryptorchidism, Hydronephrosis, Difficulty walking |
ORPHA:531151 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity, Ventriculomegaly |
ORPHA:521390 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Spastic ataxia, Homocystinuria, Cerebral cortical atrophy, Methylmalonic aciduria |
OMIM:277410 |
Congenital Erythropoietic Porphyria |
|
Scarring alopecia of scalp, Splenomegaly, Loss of eyelashes, Red-brown urine, Porphyrinuria, Incr... |
ORPHA:79277 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Confusion, Hemolytic-uremic syndrome, Cystathioninuria, Hydroce... |
OMIM:277400 |
Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Horseshoe kidney, Athetosis, Cerebellar hypoplasia, Hepatic failure... |
OMIM:311900 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hydronephrosis, Apraxia |
OMIM:620141 |
Histidinuria Due To A Renal Tubular Defect |
|
Impaired histidine renal tubular absorption, Histidinuria |
OMIM:235830 |
Suleiman-El-Hattab Syndrome |
|
Highly arched eyebrow, Cryptorchidism, Synophrys, Hirsutism, Frontal hirsutism, Hydronephrosis, T... |
OMIM:618950 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Sparse hair, Aminoaciduria, Hypoplastic nipples |
OMIM:273400 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Ureteral duplication, Renal insufficiency, Hepatomegaly, Elevated ... |
OMIM:608836 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Paralysis, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephro... |
ORPHA:18 |
Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Hydronephrosis, Dandy-Walker malformation, Low posterior hairline |
OMIM:220210 |
Tetrasomy 15Q26 |
|
Patent ductus arteriosus, Hydronephrosis, Dandy-Walker malformation, Horseshoe kidney |
OMIM:614846 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Patent ductus arteriosus, Hydronephrosis, Spastic diplegia |
OMIM:300048 |
Hyperlysinemia |
|
Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Argininuria, Spastic dipl... |
ORPHA:2203 |
Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Long eyelashes, Nephrolithiasis, Cystinuria |
OMIM:606407 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Ataxia, Atrophy of the spinal cord, Hemiparesis, Gait disturbance, Brain a... |
ORPHA:395 |
Gyrate Atrophy Of Choroid And Retina |
|
Abnormal hair morphology, Aminoaciduria |
ORPHA:414 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Obesity, Large for gestational age |
OMIM:240900 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Astrocytoma, Cryptorchidism, Cerebellar hypoplasia, Pelvic kidney, Hydronephrosis, Dand... |
OMIM:613001 |
Gitelman Syndrome |
|
Ataxia, Polyuria, Paralysis, Renal magnesium wasting, Enuresis, Hypocalciuria, Paresthesia, Noctu... |
OMIM:263800 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... |
ORPHA:139507 |
Trisomy 20P |
|
Incoordination, Hypospadias, Thick hair, Highly arched eyebrow, Abnormality of the kidney, Crypto... |
ORPHA:261318 |
Desmoid Tumor |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
Capillary Malformation-Arteriovenous Malformation |
|
Neurogenic bladder |
ORPHA:137667 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Spastic tetraparesis, Lacticaciduria, Hypergly... |
OMIM:605711 |
Erdheim-Chester Disease |
|
Renal insufficiency, Ataxia, Dysuria, Retroperitoneal fibrosis, Abnormal cerebellum morphology, H... |
ORPHA:35687 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Bradykinesia, Gait disturbance, Gliosis,... |
OMIM:168601 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Cerebellar atrophy, Renal insufficiency, Cerebellar vermis hypoplasia, Hypospadias, Hemolytic-ure... |
OMIM:611209 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Aminoaciduria, Polycysti... |
OMIM:214110 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Urinary incontinence, Akinesia, Parkinsonism, Tremor, Rigidity, Babinski ... |
OMIM:234200 |
8P Inverted Duplication/Deletion Syndrome |
|
Frontal balding, Cryptorchidism, Synophrys, Spastic tetraplegia, Abnormality of the urinary syste... |
ORPHA:96092 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:618265 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Renovascular hyperte... |
ORPHA:49041 |
Intellectual Disability, Buenos-Aires Type |
|
Spastic gait, Hydronephrosis, Fine hair |
ORPHA:3079 |
Colchicine Poisoning |
|
Renal insufficiency, Alopecia, Oliguria |
ORPHA:31824 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Elevated circulating aspartate aminotran... |
OMIM:227810 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... |
ORPHA:79403 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Aminoaciduria, Failure to thrive, Ketonuria, Large for gestational age |
OMIM:614520 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Cryptorchidism, Patent ductus arteriosus, Congenital megaureter, Ce... |
ORPHA:261344 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Hypoplasia of the pons, Increased urinary taurine, Hypertonia, Cerebellar hypoplasia, Limb hypert... |
OMIM:615501 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Splenomegaly, Hepatomegaly, Recurrent urinary tract infections, Neurodegeneration |
OMIM:620210 |
Type 1 Diabetes Mellitus |
|
Polyuria |
OMIM:222100 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hep... |
ORPHA:541423 |
Cystinosis, Nephropathic |
|
Hepatomegaly, Hypopigmentation of hair, Renal insufficiency, Hyperphosphaturia, Proteinuria, Poly... |
OMIM:219800 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Nodular regenerative hyperplasia... |
ORPHA:404454 |
Hyperparathyroidism, Neonatal Severe |
|
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Hypercalciuria, Aminoaciduria |
OMIM:239200 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Elevated circulating aspartate aminotransferase concentration, Intr... |
OMIM:617093 |
Sacral Defect With Anterior Meningocele |
|
Neurogenic bladder, Urinary retention |
OMIM:600145 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br... |
OMIM:606159 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Hypoplasia of the pons, Cryptorchidism, Cerebral atrophy, Spasticity, Hydronephrosis, Micropenis,... |
OMIM:612513 |
Propionic Acidemia |
|
Hepatomegaly, Increased level of hippuric acid in urine, Hyperglycinuria, Cerebral atrophy, Pancr... |
OMIM:606054 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatomegaly, Elevated circulating aspartate... |
OMIM:619534 |
Kury-Isidor Syndrome |
|
Alopecia, Hydronephrosis, Hypertrichosis |
OMIM:619762 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Patent ductus arteriosus, Dilatation of the renal pelvis, Horseshoe ki... |
ORPHA:314588 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Ataxia, Supernumerary nipple, Highly arched eyebrow, Gait disturbance, Myoclonus, Oculomotor apra... |
ORPHA:247262 |
Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Oliguria, Decreased liver function, Hepatic failure, Acute kidney injury |
ORPHA:466650 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
2P15P16.1 Microdeletion Syndrome |
|
Lower limb spasticity, Multicystic kidney dysplasia, Supernumerary nipple, Sparse eyebrow, Fine h... |
ORPHA:261349 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hydronephrosis, Micropenis, Hypospadias, Cerebellar hypoplasia |
OMIM:616897 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Abnormal lower motor neuron morphology, Ataxia, Parkinsonism, Tremor, Babinsk... |
OMIM:614298 |
Cholera |
|
Decreased urine output, Abnormality of renal excretion, Acute kidney injury |
ORPHA:173 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cryptorchidism, Patent ductus arteriosus, Methylmalonic aciduria, Cerebral atrophy, Homocystinuria |
OMIM:614857 |
Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
Fumarase Deficiency |
|
Bilateral fetal pyelectasis, Increased urine succinate level, Mitochondrial swelling, Elevated ur... |
OMIM:606812 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Hydrocephalus, Obesity |
ORPHA:2183 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Neu... |
OMIM:300894 |
Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Scarring alopecia of scalp, Aplasia of the bladder, ... |
ORPHA:158684 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Involuntary movements, Cryptorchidism, Unsteady gait, Frontal upsweep of hair, Micropenis, Hydron... |
OMIM:617798 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Athetosis, Ketonuria, Glycosuria |
OMIM:618857 |
22Q11.2 Duplication Syndrome |
|
Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis |
ORPHA:1727 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Cerebellar atrophy, Hydroureter, Tremor, Partial absence of cerebellar vermis, Synophrys, Patent ... |
ORPHA:280633 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Poor coordination, Stage 5 chronic kidney disease, Renal cyst, Micropenis |
OMIM:615994 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... |
ORPHA:887 |
Obesity Due To Sim1 Deficiency |
|
Cognitive impairment, Memory impairment, Obesity, Attention deficit hyperactivity disorder |
ORPHA:369873 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Nephrocalcinosis, Polyuria |
OMIM:620152 |
Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Alopecia, Brittle hair, Ataxia, Multicystic kidney dysplasia, Rena... |
ORPHA:2750 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse scalp hair, Hypospadias, Sparse eyebrow, Inability to walk, Cerebral atrophy, Male urethra... |
ORPHA:464738 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Cerebral atrophy, Sparse hair, Spasticity, Hydronephrosis |
OMIM:616449 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,... |
OMIM:201450 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:618725 |
Toluene Embryopathy |
|
Cryptorchidism, Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H... |
ORPHA:370022 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Supernumerary nipple, Highly arched eyebro... |
ORPHA:261494 |
Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... |
ORPHA:411634 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Cryptorchidism, Neurodegeneration, Cerebellar hypop... |
OMIM:214150 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus, Obesity |
OMIM:601794 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypopigmentation of hair, Hypospadias, Abnormality of hair texture, Cryptor... |
ORPHA:96169 |
Crome Syndrome |
|
Renal tubular epithelial necrosis, Cerebellar dysplasia |
OMIM:218900 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Hepatic Veno-Occlusive Disease |
|
Renal insufficiency, Increased body weight |
ORPHA:890 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Inability to walk, Pontocerebellar atrophy, Astrocytosis |
ORPHA:258 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Cerebellar vermis hypoplasia, Patent ductus arteriosus after premature birt... |
OMIM:618460 |
Dimethylglycine Dehydrogenase Deficiency |
|
Elevated urinary N,N-dimethylglycine level |
OMIM:605850 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration, Oliguria |
ORPHA:97292 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidneys |
OMIM:613845 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Cerebellar vermis hypoplasia, Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Patent... |
OMIM:618454 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Sparse eyebrow, Cryptorchidism, Tremor, Tip-toe gait, Frontal upsweep of hair, Ure... |
OMIM:617557 |
Johanson-Blizzard Syndrome |
|
Alopecia, Hypoplasia of penis, Hypospadias, Abnormal hair pattern, Abnormality of the pancreas, H... |
ORPHA:2315 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Chorea, Babinski sign, Dysmetria, Gait ataxia, Cerebral atrophy, Bradykinesia... |
OMIM:610217 |
Carcinoid Syndrome |
|
Elevated hepatic transaminase, Hepatic necrosis |
ORPHA:100093 |
Igg4-Related Kidney Disease |
|
Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Cholecy... |
ORPHA:449395 |
Chromosome 17Q12 Deletion Syndrome |
|
Elevated hepatic transaminase, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent... |
OMIM:614527 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Dysesthesia, Cryptorchidism, Abnormal mesentery morphology, Functional abnormality of the bladder... |
ORPHA:2953 |
Noonan Syndrome 4 |
|
Curly hair, Ureteral duplication, Sparse eyebrow, Cryptorchidism, High anterior hairline, Hydrone... |
OMIM:610733 |
Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Jaundice, Hepatic failur... |
ORPHA:912 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
7Q11.23 Microduplication Syndrome |
|
Hypospadias, Unilateral renal agenesis, Sparse anterior scalp hair, Cryptorchidism, Unsteady gait... |
ORPHA:96121 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Sparse eyebrow, Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypospadias, Highly arched eyebrow, Synop... |
OMIM:617751 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis |
OMIM:249210 |
Knobloch Syndrome 1 |
|
Cerebellar atrophy, Duplicated collecting system, Ataxia, Patent ductus arteriosus, Cerebral atro... |
OMIM:267750 |
Mesomelia-Synostoses Syndrome |
|
Abnormal eyebrow morphology, Hydronephrosis |
ORPHA:2496 |
3C Syndrome |
|
Hypoplasia of penis, Hypospadias, Aplasia/Hypoplasia of the cerebellum, Hydronephrosis, Dandy-Wal... |
ORPHA:7 |
Pfeiffer Syndrome Type 3 |
|
Vesicoureteral reflux, Chiari malformation, Hydronephrosis, Horseshoe kidney |
ORPHA:93260 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Cryptorchidism, Proteinuria, Multiple bladder diverticula |
ORPHA:2728 |
Cerebellar-Facial-Dental Syndrome |
|
Ureteropelvic junction obstruction, Hypoplasia of the pons, Sparse eyebrow, Cryptorchidism, Fine ... |
ORPHA:444072 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:614921 |
Myopathy With Extrapyramidal Signs |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Clonus, Tremor, Splenomegaly, Chorea, Clumsi... |
OMIM:615673 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... |
ORPHA:35173 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent eyelashes, Hydronephrosis, Spastic tetraparesis |
OMIM:619179 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... |
OMIM:301068 |
Pelvis-Shoulder Dysplasia |
|
Waddling gait, Hydronephrosis, Facial hirsutism |
ORPHA:2839 |
Aneurysm Of Sinus Of Valsalva |
|
Oliguria |
ORPHA:1054 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Cryptorchidism, Splenomegaly, Pancreatic lymphangiectasis, Micropenis, Hepatic fail... |
OMIM:235255 |
Czeizel-Losonci Syndrome |
|
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hypoplastic nipples,... |
ORPHA:2437 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... |
ORPHA:411629 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Patent ductus arteriosus, Hydronephrosis, Cerebellar hypoplasia, Unilateral breast hypoplasia, Re... |
OMIM:300968 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Attentio... |
ORPHA:261222 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Obesity |
OMIM:616521 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Rigidity, Spastic tetraplegia, Chiari type I malformation, Long eyelashes, Cerebellar hyp... |
OMIM:618476 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Cryptorchidism, Splenomegaly, Abnormal renal morphology, Pancreatic lymphangiectasi... |
ORPHA:1655 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate excretion in uri... |
OMIM:309900 |
Xeroderma Pigmentosum |
|
Alopecia, Ataxia, Cryptorchidism, Aminoaciduria, Cerebral cortical atrophy, Abnormality of extrap... |
ORPHA:910 |
Tarp Syndrome |
|
Broad-based gait, Abnormal hair pattern, Cryptorchidism, Horseshoe kidney, Cerebellar hypoplasia,... |
ORPHA:2886 |
Carpenter Syndrome 1 |
|
Hydroureter, Cryptorchidism, Patent ductus arteriosus, Cerebral atrophy, Polysplenia, Hydronephrosis |
OMIM:201000 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Primary Fanconi Renotubular Syndrome |
|
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... |
ORPHA:3337 |
Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Glandular hypospadias, Hydronephrosis |
ORPHA:1358 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Asplenia, Cryptorchidism, Patent ductus arteriosus, Horseshoe kidney, Hydron... |
ORPHA:99776 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Generalized aminoaciduria, Difficulty walking |
OMIM:264700 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Hydronephrosis, Vesicoureteral reflux,... |
ORPHA:2059 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Ataxia, Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Enlarged cerebell... |
OMIM:620047 |
Alg9-Cdg |
|
Cerebellar atrophy, Hypoplasia of the bladder, Hepatomegaly, Torticollis, Lower limb spasticity, ... |
ORPHA:79328 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Patent ductus arteriosus, Renal cyst, Hyd... |
ORPHA:464311 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Tall stature |
OMIM:618406 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Short attention span, Obesity, Cognitive impairment |
ORPHA:459033 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Hydronephrosis |
ORPHA:457193 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Brittle hair, Homocystinuria, Methioninuria, Hepatic steatosis, Pancreatitis |
OMIM:236200 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Splenomegaly, Stage 5 chronic kidney disease, Fine hair, Aminoaciduria, Hyperlysinu... |
OMIM:222700 |
Lysinuric Protein Intolerance |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Glomerulonephritis, Ornithinuria, Argin... |
ORPHA:470 |
Branchio-Oculo-Facial Syndrome |
|
Premature graying of hair, Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Difficulty walking, Vesicoureteral r... |
OMIM:618653 |
Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:2484 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Ketonuria, Cerebral palsy, Hyperglycinuria, Opisthotonus, Organic aciduria |
OMIM:210210 |
Teratoma, Pineal |
|
Hemiparesis, Polyuria |
OMIM:273120 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Duplicated collecting system, Hepatomegaly, Broad-based gait, Elevated circulating aspartate amin... |
OMIM:280000 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypercalciuria, Medullary nephrocalcinosis, Polyuria |
OMIM:300971 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Patent ductus arteriosus, Breast hypoplas... |
ORPHA:464306 |
Menkes Disease |
|
Hypopigmentation of hair, Chorea, Bladder diverticulum, Hypertonia, Prolonged neonatal jaundice, ... |
ORPHA:565 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Hype... |
OMIM:601678 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Highly arched eyebrow, Abnormality of the upper urinary tract, Low posterior hairlin... |
ORPHA:2995 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bradyphrenia, Short attention span, Obesity, Enuresis, Decreased body weight, Ventriculomegaly |
ORPHA:589821 |
Stromme Syndrome |
|
Accessory spleen, Cerebellar vermis hypoplasia, Bilateral renal hypoplasia, Cerebellar hypoplasia... |
OMIM:243605 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,... |
OMIM:613090 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Sparse hair, Hydronephrosis, Dandy-Walker malf... |
OMIM:302960 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Cryptorchidism, Increased body weight, Attention deficit hyperactivity disorder |
ORPHA:589905 |
Obesity And Hypopigmentation |
|
Overgrowth, Obesity |
OMIM:620195 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Alopecia, Multicystic kidney dysplasia, Recurre... |
ORPHA:79404 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Atrophy of the spinal cord, Cryptorchidism, Fetal pyelectasi... |
ORPHA:49 |
Igg4-Related Aortitis |
|
Hydronephrosis |
ORPHA:449400 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Incoordination, Cystathioninuria, Patent ductus arteriosus, Methylmalonic aciduria,... |
OMIM:277380 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Bladder diverticulum |
OMIM:617821 |
15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Brain atrophy, Nephroblasto... |
ORPHA:314585 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Increased body weight, Progressive neurologic deterioration |
ORPHA:276608 |
Isovaleric Acidemia |
|
Hyperglycinuria |
OMIM:243500 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Renal dysplasia, Sparse scalp hair, Duplicated collecting system, Hydroureter, Sparse eyelashes, ... |
OMIM:129900 |
46,Xy Sex Reversal 4 |
|
Renal dysplasia, Ureteropelvic junction obstruction, Elevated circulating creatinine concentratio... |
OMIM:154230 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Progressive spas... |
ORPHA:309246 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Patent ductus arteriosus, Horses... |
ORPHA:391641 |
Genitopatellar Syndrome |
|
Sparse scalp hair, Multicystic kidney dysplasia, Cryptorchidism, Fine hair, Hydronephrosis |
ORPHA:85201 |
Monosomy 22Q13.3 |
|
Renal dysplasia, Impaired pain sensation, Long eyelashes, Vesicoureteral reflux, Recurrent pyelon... |
ORPHA:48652 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Hydronephrosis |
ORPHA:568 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Splenomegaly, Oculomotor apraxia... |
OMIM:115150 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Horseshoe kidney, ... |
OMIM:601186 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Jaundice... |
OMIM:229600 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Ataxia, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait ataxia, Neurodegeneration, Gliosis, M... |
OMIM:618321 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Cryptorchidism, Low posterior hairl... |
ORPHA:1340 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... |
OMIM:607323 |
Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Abnormality of hair texture, Cryptorchidism, Patent ductus ar... |
OMIM:610443 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Renal agenesis, Cryptorchidism, Cerebral atrophy, Spasticity, Micropenis, Hydronephr... |
OMIM:301040 |
Bardet-Biedl Syndrome 8 |
|
Renal dysplasia, Hypospadias, Obesity |
OMIM:615985 |
Bruck Syndrome 2 |
|
Hydroxyprolinuria |
OMIM:609220 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Spastic tetraplegia, Aminoaciduria, Clonus, Myoclonus |
OMIM:619055 |
Williams-Beuren Syndrome |
|
Vocal cord paralysis, Chiari type I malformation, Premature graying of hair, Nephrocalcinosis, Ve... |
OMIM:194050 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Cryptorchidis... |
ORPHA:847 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Paten... |
ORPHA:2473 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Impaired pain sensation, Cryptorchidism, Vesicoureteral reflux, Abnormal bladder morphology, Hydr... |
ORPHA:453499 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Patent ductus arteriosus, Absent nipple, Hydronephrosis, Ureteral triplication |
OMIM:104350 |
Cat Eye Syndrome |
|
Renal agenesis, Patent ductus arteriosus, Biliary atresia, Horseshoe kidney, Vesicoureteral reflu... |
OMIM:115470 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Hypertonia, Neurodegeneration, Decerebrate rigidity, Progressive spasti... |
OMIM:245200 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Cryptorchidism, Patent... |
OMIM:146510 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Cryptorchidism, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, Hirsutism |
OMIM:235510 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Cerebellar atrophy, Hypospadias, Highly arched eyebrow, Unilateral renal agenesis, Sparse eyebrow... |
ORPHA:487796 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Hirsutism, Dermatan sulfate excre... |
OMIM:253220 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Bladder diverticulum, Hirsutism |
ORPHA:2976 |
Distal Deletion 12Q |
|
Unilateral cryptorchidism, Impaired pain sensation, Ectopic kidney, Patent ductus arteriosus, Bil... |
ORPHA:96149 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Hype... |
OMIM:241200 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... |
OMIM:272750 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Horseshoe kid... |
OMIM:272950 |
Acro-Renal-Ocular Syndrome |
|
Renal malrotation, Renal hypoplasia/aplasia, Horseshoe kidney, Bladder diverticulum, Vesicoureter... |
ORPHA:959 |
Williams Syndrome |
|
Hypoplasia of penis, Tremor, Dysmetria, Abnormal tubulointerstitial morphology, Nephrocalcinosis,... |
ORPHA:904 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Cerebellar hypoplasia,... |
OMIM:300712 |
Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Cryptorchidism, Epispadias, Vesicovagi... |
OMIM:258040 |
Hurler Syndrome |
|
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate excretion in uri... |
OMIM:607014 |
Mosaic Trisomy 8 |
|
Vesicoureteral reflux, Cryptorchidism, Decreased testicular size, Hydronephrosis |
ORPHA:96061 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria, Difficulty walking |
ORPHA:289157 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Waddling gait, Bladder diverticulum, Patent ductus arteriosus |
OMIM:614557 |
Baller-Gerold Syndrome |
|
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney |
ORPHA:1225 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
Oculocerebrorenal Syndrome Of Lowe |
|
Sparse scalp hair, Glomerulopathy, Renal insufficiency, Proteinuria, Clonus, Cryptorchidism, Prox... |
ORPHA:534 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Progressive neurologic deterioration, Large for gestational age, Increased body weig... |
ORPHA:263455 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, High... |
ORPHA:2322 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating creatinine concentration, Renal neutrophilic tubulitis, Renal interstitial e... |
ORPHA:91500 |
Smith-Lemli-Opitz Syndrome |
|
Diffuse cerebral atrophy, Renal cyst, Chiari type I malformation, Hypertonia, Micropenis, Hepatic... |
OMIM:270400 |
1Q21.1 Microdeletion Syndrome |
|
Vesicoureteral reflux, Cryptorchidism, Patent ductus arteriosus, Hydronephrosis |
ORPHA:250989 |
Liver Disease, Severe Congenital |
|
Dry hair, Biliary hyperplasia, Aminoaciduria, Elevated hepatic iron concentration, Pancreatic hyp... |
OMIM:619991 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Unsteady gait, Ataxia, Neurodegeneration |
OMIM:615919 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Vesicoureteral reflux, Crossed fused renal ectopia, Pelvi... |
OMIM:300707 |
Paget Disease Of Bone 2, Early-Onset |
|
Hydroxyprolinuria, Paraparesis, Tetraparesis |
OMIM:602080 |
Smith-Magenis Syndrome |
|
Abnormality of the urinary system, Abnormal renal morphology, Increased body weight, Ventriculome... |
OMIM:182290 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity |
OMIM:264120 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Speech apraxia, Broad-based gait, Babinski sign, Hypertonia, Neurodegeneration, Gait disturbance,... |
ORPHA:79244 |
Opitz Gbbb Syndrome |
|
Hypospadias, Aplasia/Hypoplasia of the cerebellar vermis, Cryptorchidism, Widow's peak, Patent du... |
ORPHA:2745 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Bladder diverticulum |
OMIM:219100 |
Eec Syndrome |
|
Slow-growing hair, Hypospadias, Renal hypoplasia/aplasia, Sparse eyebrow, Fine hair, Urethral atr... |
ORPHA:1896 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypercalciuria, Polyuria |
OMIM:613677 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Microvesicular hepatic steatosis, Tetraplegia, Hepatosplenomegaly, Hepatocellular n... |
OMIM:618278 |
X-Linked Intellectual Disability, Armfield Type |
|
Cryptorchidism, Patent ductus arteriosus, Aminoaciduria, Organic aciduria, Galactosuria, Cerebral... |
ORPHA:85276 |
Helix Syndrome |
|
Nephrolithiasis, Renal insufficiency, Hypocalciuria, Polyuria |
OMIM:617671 |
Schinzel-Giedion Syndrome |
|
Hypospadias, Ependymoma, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micropenis, Chia... |
ORPHA:798 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Multicystic kidney dysplasia, Agenesis of cerebellar vermis, Spasticity, Hydronephrosis, Cerebell... |
OMIM:615287 |
Occipital Horn Syndrome |
|
Ureteral obstruction, Bladder diverticulum, Coarse hair, Pili torti, Hydronephrosis |
OMIM:304150 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Polycystic kidney dysplasia, Vesi... |
ORPHA:2237 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Cerebellar hypoplasia,... |
ORPHA:163979 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Hypospadias, Cryptorchidism, Obesity, Nephropathy, Nephroblastoma |
OMIM:194072 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Increased body weight, Attention deficit hyperactivity disorder |
OMIM:274300 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Alopecia, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Patent d... |
ORPHA:2092 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Splenopancreatic fusion, Cerebral atrophy, Opisthoto... |
OMIM:269150 |
Congenital Myopathy 17 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia |
OMIM:618975 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
Pseudohypoparathyroidism, Type Ib |
|
Obesity, Low urinary cyclic AMP response to PTH administration |
OMIM:603233 |
Chediak-Higashi Syndrome |
|
Hepatomegaly, Hypopigmentation of hair, Ataxia, Tremor, Silver-gray hair, Splenomegaly, Jaundice,... |
OMIM:214500 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Increased body weight |
OMIM:614450 |
Trisomy 18 |
|
Abnormality of the upper urinary tract, Cryptorchidism, Hypertonia, Chiari malformation, Hydronep... |
ORPHA:3380 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinuria, Hypercalciuria, Increased urine deoxypyridinoline level |
OMIM:239000 |
Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Neurodegeneration, Hydronephrosis, Glioma |
OMIM:251260 |
Otopalatodigital Syndrome Type 2 |
|
Hydronephrosis, Hypospadias, Cerebellar hypoplasia, Ureteral obstruction |
ORPHA:90652 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Recurrent urinary tract infections, Cryptorchidism, Urachus fistula, Patent ductus ... |
OMIM:612541 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Asplenia, Patent ductus arteriosus, Annular pancreas, Hydronephrosis |
ORPHA:210122 |
Au-Kline Syndrome |
|
Supernumerary nipple, Cryptorchidism, Chronic kidney disease, Dilatation of the renal pelvis, Ves... |
OMIM:616580 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Abdominal obesity, Increased body weight |
OMIM:615954 |
Al-Gazali Syndrome |
|
Hydronephrosis |
OMIM:609465 |
Trisomy 8P |
|
Cryptorchidism, Fetal pyelectasis, Annular pancreas, Low posterior hairline, Nephrocalcinosis, Ap... |
ORPHA:264450 |
Alkaptonuria |
|
Aminoaciduria, Nephrolithiasis |
ORPHA:56 |
1P36 Deletion Syndrome |
|
Abnormal eyebrow morphology, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Cryptor... |
ORPHA:1606 |
Melnick-Needles Syndrome |
|
Ureteral stenosis, Coarse hair, Gait disturbance, Frontal hirsutism, Hydronephrosis |
OMIM:309350 |
Frontometaphyseal Dysplasia 1 |
|
Hydroureter, Hydronephrosis, Hirsutism |
OMIM:305620 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Pancreatitis, Hematuria, Hem... |
ORPHA:900 |
Sotos Syndrome |
|
Ventriculomegaly, Abnormality of the kidney, Cryptorchidism, Partial agenesis of the corpus callo... |
OMIM:117550 |
47,Xyy Syndrome |
|
Macroorchidism, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Dysgenesis of the cere... |
ORPHA:8 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Sparse eyebrow, Cryptorchidism, Tremor, Hydronephrosis, Frontal upsweep of hair, G... |
ORPHA:506358 |
Smith-Lemli-Opitz Syndrome |
|
Hypopigmentation of hair, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal h... |
ORPHA:818 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Supernumerary nipple, Impaired pain sensation, Cryptorchidism, Inability to walk, Vesicoureteral ... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Supernumerary nipple, Impaired pain sensation, Cryptorchidism, Inability to walk, Vesicoureteral ... |
ORPHA:352665 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Hydronephrosis |
OMIM:619269 |
White-Kernohan Syndrome |
|
Hydroureter, Synophrys, Broad medial eyebrow, Horseshoe kidney, Long eyelashes, Horizontal eyebro... |
OMIM:619426 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Short attention span, Overweight, Obesity, Lateral ventricle dilatation, Dementia, Mental deterio... |
ORPHA:2822 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodegeneration, Spasticity |
ORPHA:803 |
Coffin-Siris Syndrome 1 |
|
Sparse scalp hair, Thick eyebrow, Dry hair, Hydroureter, Hypospadias, Ectopic kidney, Cryptorchid... |
OMIM:135900 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Dilated fourth ventricle, Curly hair, Cerebellar vermis hypoplasia, Cyst of the ductus choledochu... |
ORPHA:480880 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Cryptorchidism, Bicarbonaturia, Proximal renal tubular ac... |
OMIM:309000 |
Chime Syndrome |
|
Abnormality of the kidney, Fine hair, Hydronephrosis, Sparse hair, Cerebral cortical atrophy |
ORPHA:3474 |
Apert Syndrome |
|
Chiari type I malformation, Cryptorchidism, Cerebellar hypoplasia, Hydronephrosis |
OMIM:101200 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Waddling gait, Ureteral duplication, Inability to walk, Hand tremor, Duplication of renal pelvis,... |
ORPHA:457212 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Bladder diverticulum, Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio |
OMIM:225400 |
Thakker-Donnai Syndrome |
|
Hydronephrosis |
ORPHA:1780 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Hydronephrosis |
ORPHA:254528 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Cryptorchidism, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis |
OMIM:236700 |
Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Cryptorchidism, Ren... |
OMIM:229850 |
Campomelic Dysplasia |
|
Hydronephrosis |
ORPHA:140 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Synophrys, Hypertonia, Micropenis, Hepatic steatosis, Intention tremor, Ataxia, Hypospadi... |
OMIM:619475 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Diffuse cerebral atrophy, Biliary hyperplasia, Cryptorchidism, Coarse hair, Brain a... |
ORPHA:83617 |
Cousin Syndrome |
|
Low anterior hairline, Hydronephrosis, Facial hirsutism |
OMIM:260660 |
Dubowitz Syndrome |
|
Sparse scalp hair, Hypospadias, Cryptorchidism, Low anterior hairline, Fine hair, Hydronephrosis,... |
ORPHA:235 |
3Mc Syndrome 1 |
|
Supernumerary nipple, Highly arched eyebrow, Synophrys, Patent ductus arteriosus, Hydronephrosis |
OMIM:257920 |
Floating-Harbor Syndrome |
|
Speech apraxia, Broad-based gait, Hypospadias, Renal agenesis, Cryptorchidism, Dilatation of the ... |
ORPHA:2044 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Bladder diverticulum, Synophrys, Difficulty walking |
ORPHA:536545 |
Lipodystrophy, Familial Partial, Type 7 |
|
Sparse scalp hair, Polyuria, Clonus, Babinski sign, Dysmetria, Distal sensory impairment, Gait at... |
OMIM:606721 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Speech apraxia, Alopecia, Recurrent urinary tract infections, Hypospadias, Testicular neoplasm, C... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Speech apraxia, Alopecia, Recurrent urinary tract infections, Hypospadias, Testicular neoplasm, C... |
ORPHA:363958 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Hydronephrosis, Multiple bladder diverticula |
OMIM:613177 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Nephrolithiasis, Proximal renal tubular acidosis, Renal tubular acidosis, Tetrapare... |
ORPHA:2785 |
Zttk Syndrome |
|
Curly hair, Absent gallbladder, Polyuria, Unilateral renal agenesis, Sparse eyebrow, Patent ductu... |
OMIM:617140 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Axonal degeneration, Poor coordination, Neurodegeneration, Myoclonic spasms, Diffuse cerebellar a... |
ORPHA:478029 |
Frontometaphyseal Dysplasia |
|
Hydronephrosis, Chiari malformation, Ureteral obstruction, Urethral stenosis |
ORPHA:1826 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Decreased renal tubular phosphate excretion, Nephrocalcinosis, Increased renal tubular phosphate ... |
OMIM:211900 |
Vater/Vacterl Association |
|
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent ductus arteriosus, Patent ur... |
OMIM:192350 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinar... |
ORPHA:2273 |
Occipital Horn Syndrome |
|
Recurrent urinary tract infections, Thick hair, Jaundice, Hepatitis, Cholestasis, Bladder diverti... |
ORPHA:198 |
Raine Syndrome |
|
Hydroureter, Hydronephrosis, Highly arched eyebrow |
OMIM:259775 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Asplenia, Patent ductus arteriosus, Dilatation of the renal pelvis, Dil... |
OMIM:265380 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Hepatic failure, Hydronephrosis, Extrahepatic cholestasis |
ORPHA:100078 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Exaggerated startle response, Hypospadias, Urinary incontinence, Renal agenes... |
OMIM:619522 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Cryptorchidism, Nephrolithiasis, Nephrocalcinosis, Long eyelashes, Micropenis, Hydronephrosis, Re... |
OMIM:268310 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Hydronephrosis |
OMIM:271520 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short attention span, Overweight, Dilated third ventricle, Hydrocephalus, Renal tubular acidosis,... |
OMIM:619575 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Broad-based gait, Exaggerated startle response, Involuntary movements, Cryptorchidism, Inability ... |
ORPHA:438213 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Hydronephrosis, Unilateral renal agenesis |
OMIM:308050 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Alopecia, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Rigidit... |
ORPHA:2636 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Cryptorchidism, Cerebral atrophy, Annular pancreas, Hydronephrosis,... |
ORPHA:2308 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Broad eyebrow, Incoordination, Hypospadias, Highly arched eyebrow, Bilateral cr... |
OMIM:180849 |
Holoprosencephaly 3 |
|
Hydronephrosis |
OMIM:142945 |
Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Cerebellar vermis hypoplasia, Hypospadias, Abnormality... |
ORPHA:821 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
Arboleda-Tham Syndrome |
|
Recurrent urinary tract infections, Highly arched eyebrow, Bilateral cryptorchidism, Patent ductu... |
OMIM:616268 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
ORPHA:2157 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Recurrent urinary tract infections, Pyelonephritis, Urethral diverticulum, Multiple bladder diver... |
ORPHA:90349 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Micropenis, Increased body weight, Horseshoe kidney |
OMIM:300860 |
Autosomal Recessive Robinow Syndrome |
|
Alopecia, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Long eyelashes, Hydr... |
ORPHA:1507 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Lower limb dysmetria, Renal hypoplasia/aplasia, Abnormal renal morphology, Hydronephrosis, Optic ... |
ORPHA:363700 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Nephrolithiasis, Increased body weight, Abdominal obesity, Rena... |
ORPHA:189427 |
Charge Syndrome |
|
Highly arched eyebrow, Cryptorchidism, Patent ductus arteriosus, Vesicoureteral reflux, Horseshoe... |
ORPHA:138 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Nephro... |
ORPHA:353281 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cerebellar vermis hypoplasia, Urinary incontinence, Asplenia, Chiari type I malformation, Vesicou... |
ORPHA:261537 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Dysesthesia, Cryptorchidism, Nephrotic syndrome, Hydronephrosis |
OMIM:601776 |
Cerebral Visual Impairment |
|
Cerebral palsy, Clumsiness, Central nervous system degeneration, Neurodegeneration, Oculomotor ap... |
ORPHA:447788 |
Okamoto Syndrome |
|
Urinary incontinence, Splenomegaly, Extension of hair growth on temples to lateral eyebrow, Unila... |
ORPHA:2729 |
Tetrasomy 9P |
|
Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Cryptorchidism, Jaundice... |
ORPHA:3310 |
Mowat-Wilson Syndrome |
|
Cerebellar vermis hypoplasia, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis... |
ORPHA:2152 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Congenital hepatic fibrosis, Renal h... |
ORPHA:93271 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Pain insensitivity, Cerebellar vermis hypoplasia, Hydronephrosis, Broad-based gait |
OMIM:620330 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Cryptorchidism, Renal dysplasia, Polyuria |
OMIM:618183 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Small cerebellar cortex, Low anterior hairline... |
ORPHA:79500 |
Autosomal Dominant Cutis Laxa |
|
Bladder diverticulum, Unilateral renal agenesis, Pyelonephritis |
ORPHA:90348 |
Floating-Harbor Syndrome |
|
Hypospadias, Cryptorchidism, Glandular hypospadias, Low posterior hairline, Nephrocalcinosis, Lon... |
OMIM:136140 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Cryptorchidism, Increased body weight, Abdominal obesity, Cognitive impairment, Micropenis, Failu... |
ORPHA:398069 |
Insulinoma |
|
Transient global amnesia, Increased body weight |
ORPHA:97279 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Cerebellar vermis hypoplasia, Urinary incontinence, Asplenia, Chiari type I malformation, Vesicou... |
ORPHA:261552 |
Mody |
|
Abnormality of the kidney, Large for gestational age, Overweight, Obesity, Renal cyst, Glycosuria... |
ORPHA:552 |
Robinow Syndrome |
|
Multicystic kidney dysplasia, Cryptorchidism, Micropenis, Webbed penis, High anterior hairline, H... |
ORPHA:97360 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Trichiasis, Highly ar... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Trichiasis, Highly ar... |
ORPHA:353277 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Brittle hair, Supernumerary nipple, Cryptorchidism, Horseshoe kidney, Chiar... |
OMIM:305600 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Cerebellar vermis hypoplasia, Hypospadias, Short nail, Supernumerary nipple, Crypto... |
OMIM:312870 |
Digeorge Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Splenomegaly, Patent ductus arteriosus, Hydrocele... |
OMIM:188400 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto... |
ORPHA:709 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Abnormality of urine homeostasis, Increased body weight, Weight... |
ORPHA:1501 |
Lacrimoauriculodentodigital Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis |
ORPHA:2363 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
OMIM:600383 |
Cardiac Valvular Dysplasia 1 |
|
Urethral diverticulum, Hydroureter, Hydronephrosis |
OMIM:212093 |
Johanson-Blizzard Syndrome |
|
Sparse scalp hair, Hepatomegaly, Hypospadias, Elevated circulating aspartate aminotransferase con... |
OMIM:243800 |
Peters-Plus Syndrome |
|
Ureteral duplication, Hypospadias, Bilobate gallbladder, Cryptorchidism, Patent ductus arteriosus... |
OMIM:261540 |
Kabuki Syndrome 1 |
|
Ureteropelvic junction obstruction, Crossed fused renal ectopia, Highly arched eyebrow, Sparse ey... |
OMIM:147920 |
Campomelic Dysplasia |
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Hydronephrosis, Hypospadias, Short nail |
OMIM:114290 |
Wilson Disease |
|
Failure to thrive, Increased body weight, Weight loss |
ORPHA:905 |
Hydrolethalus Syndrome 1 |
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Accessory spleen, Hypospadias, Hydronephrosis, Dandy-Walker malformation |
OMIM:236680 |
Robinow Syndrome, Autosomal Dominant 1 |
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Cryptorchidism, Long eyelashes, Micropenis, Hydronephrosis, Renal duplication |
OMIM:180700 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
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Increased body weight |
ORPHA:64745 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
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Cerebral atrophy, Patent urachus |
OMIM:618252 |
Autosomal Recessive Hypophosphatemic Rickets |
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Renal phosphate wasting, Hyperphosphaturia, Abnormality of renal excretion |
ORPHA:289176 |
Osteogenesis Imperfecta, Type Vii |
|
Hydronephrosis |
OMIM:610682 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Renal tubular acidosis, Myoglobinuria, Failure to thrive, Increased body weight |
ORPHA:264580 |
Classical Ehlers-Danlos Syndrome |
|
Bladder diverticulum |
ORPHA:287 |
Hellp Syndrome |
|
Hemoglobinuria, Acute kidney injury, Proteinuria, Increased body weight |
ORPHA:244242 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Renal tubular acidosis, Myoglobinuria, Increased body weight |
ORPHA:79240 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
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Homocystinuria |
OMIM:601552 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased body weight |
OMIM:615830 |
Genitopatellar Syndrome |
|
Sparse scalp hair, Multicystic kidney dysplasia, Cryptorchidism, Micropenis, Hydronephrosis |
OMIM:606170 |
Insulin-Resistance Syndrome Type B |
|
Proteinuria, Abnormality of body weight, Increased body weight, Weight loss, Glycosuria, Decrease... |
ORPHA:2298 |
Charge Syndrome |
|
Renal agenesis, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Horseshoe kidney, Mic... |
OMIM:214800 |
Vascular Ehlers-Danlos Syndrome |
|
Alopecia, Hypospadias, Abnormality of hair texture, Abnormal eyelash morphology, Cryptorchidism, ... |
ORPHA:286 |
Otopalatodigital Syndrome, Type Ii |
|
Cryptorchidism, Widow's peak, Hypospadias, Hydronephrosis |
OMIM:304120 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Unilateral cryptorchidism, Cryptorchidism, Patent ductus arteriosus, Hepatopulm... |
OMIM:618280 |
Cushing Disease |
|
Increased urinary cortisol level, Increased body weight, Truncal obesity, Abdominal obesity, Deme... |
ORPHA:96253 |
Viss Syndrome |
|
Sparse scalp hair, Alopecia, Patent ductus arteriosus, Hydronephrosis, Hirsutism |
OMIM:619472 |
Primrose Syndrome |
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Sparse scalp hair, Ataxia, Absent facial hair, Bilateral cryptorchidism, Cryptorchidism, Synophry... |
OMIM:259050 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Increased urinary cortisol level, Increased body weight, Weight loss, Truncal obesity, Abdominal ... |
ORPHA:99889 |
Carney Complex |
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Testicular neoplasm, Increased body weight, Testicular adrenal rest tumor, Oligozoospermia, Abdom... |
ORPHA:1359 |