| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Distal renal tubular acidosis, Failure to thrive, Bilateral sensorineural hearing im... |
OMIM:602722 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Stage 5 chronic kidney disease, Acidosis... |
OMIM:137950 |
| Tiglic Acidemia |
|
Aminoaciduria, Acidosis |
OMIM:275190 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria, Acidosis, Osteoporosis |
OMIM:204730 |
| Malignant Hyperthermia, Susceptibility To, 4 |
|
Acidosis |
OMIM:600467 |
| Renal Hypodysplasia/Aplasia 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... |
OMIM:617805 |
| Mitochondrial Complex I Deficiency, Nuclear Type 24 |
|
Increased serum lactate |
OMIM:618245 |
| East Syndrome |
|
Sensorineural hearing impairment, Renal sodium wasting, Hypokalemia, Renal salt wasting, Abnormal... |
ORPHA:199343 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... |
OMIM:618270 |
| Distal Renal Tubular Acidosis |
|
Aminoaciduria, Hyperphosphaturia, Low-molecular-weight proteinuria, Dehydration, Nephrolithiasis,... |
ORPHA:18 |
| Hypercalcemia, Infantile, 1 |
|
Weight loss, Medullary nephrocalcinosis, Failure to thrive, Polyuria, Hypercalcemia, Dehydration,... |
OMIM:143880 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Elevated serum bicarbonate concentration, Sensorineural hearing impairment, Dysdiadochokinesis, R... |
OMIM:612780 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Polyhydramnios, Hypokalemic hypochloremic metabolic alkalosis, Reduced renal corticomedullary dif... |
OMIM:602522 |
| Isovaleric Acidemia |
|
Metabolic acidosis |
ORPHA:33 |
| Intellectual Developmental Disorder, Autosomal Recessive 1 |
|
Increased serum lactate |
OMIM:249500 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Polyhydramnios, Hypokalemic hypochloremic metabolic alkalosis, Sensorineural hearing impairment, ... |
OMIM:613090 |
| Oligomeganephronia |
|
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Small for g... |
ORPHA:2260 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... |
OMIM:611555 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Renal tubular atrophy, Aminoaciduria, Renal tubular acidosis, Small for gestational age, Nephroca... |
OMIM:208085 |
| Congenital Primary Megaureter |
|
Vesicoureteral reflux, Hydronephrosis, Congenital megaureter, Recurrent urinary tract infections,... |
ORPHA:617 |
| Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Hypophosphatemia, Medullary nephrocalcinosis, Failure to thrive, Polyuri... |
OMIM:616963 |
| Cystinosis |
|
Aminoaciduria, Hypophosphatemia, Hypokalemia, Abnormal repetitive mannerisms, Failure to thrive, ... |
ORPHA:213 |
| Nephronophthisis-Like Nephropathy 2 |
|
Stage 5 chronic kidney disease, Polyuria, Tubular luminal dilatation, Elevated circulating creati... |
OMIM:619468 |
| Combined Malonic And Methylmalonic Acidemia |
|
Methylmalonic acidemia, Acidosis, Dicarboxylic aciduria, Dicarboxylic acidemia, Failure to thrive... |
ORPHA:289504 |
| Renal Hypoplasia |
|
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... |
ORPHA:93101 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... |
OMIM:308990 |
| Central Diabetes Insipidus |
|
Weight loss, Nocturia, Failure to thrive, Hyponatremia, Dehydration, Polydipsia |
ORPHA:178029 |
| Bartter Syndrome Type 4 |
|
Polyhydramnios, Hypokalemic metabolic alkalosis, Bilateral sensorineural hearing impairment, Hypo... |
ORPHA:89938 |
| Type 1 Diabetes Mellitus |
|
Polyuria, Ketoacidosis, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Polydipsia |
OMIM:222100 |
| Ring Chromosome 8 Syndrome |
|
Polyhydramnios, Round ear, Short nose, Abnormality of the ureter, Anteverted nares, Hydronephrosis |
ORPHA:1450 |
| Bartter Syndrome, Type 2, Antenatal |
|
Polyhydramnios, Hypokalemic metabolic alkalosis, Dehydration, Polydipsia, Renal salt wasting, Hyp... |
OMIM:241200 |
| 2p15-16.1 microdeletion syndrome |
|
Camptodactyly of finger, Hydronephrosis |
DECIPHER:70 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hyperchloremic acidosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Impaired renal ... |
OMIM:604278 |
| Bardet-Biedl Syndrome 19 |
|
Hyposmia, Renal hypoplasia, Renal insufficiency, Obesity, Hearing impairment, Hydronephrosis |
OMIM:615996 |
| Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Abnormality of the kidney, Diabetic ketoacidosis, Failure to thrive, D... |
ORPHA:99886 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Aminoaciduria, Renal tubular acidosis, Nephrocalcinosis, Glycosuria, Failure to thrive, Nephropat... |
OMIM:613404 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia, Isothenuria, Hyperchloremic metabolic acidosis, Distal renal tubular acidosis, Failu... |
OMIM:611590 |
| Juvenile Nephropathic Cystinosis |
|
Abnormal urine potassium concentration, Aminoaciduria, Hypocalcemic tetany, Low-molecular-weight ... |
ORPHA:411634 |
| Hypomagnesemia 3, Renal |
|
Hyperuricemia, Hypocitraturia, Hypercitraturia, Recurrent urinary tract infections, Hypermagnesiu... |
OMIM:248250 |
| Renal Tubular Acidosis, Proximal |
|
Hyperchloremic acidosis, Renal tubular acidosis, Proximal renal tubular acidosis |
OMIM:179830 |
| Gitelman Syndrome |
|
Paresthesia, Hypokalemia, Nocturia, Hypokalemic alkalosis, Vertigo, Increased circulating renin l... |
OMIM:263800 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyperuricemia, Renal salt wasting, Increased serum lactate, Failure to thrive, Hypochloremic meta... |
OMIM:613845 |
| Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypokalemia, Epistaxis, Tinnitus, Athetosis, Nephrolithiasis, Metabolic alkalosis, Polydipsia |
ORPHA:369929 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Hypokalemia, Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, ... |
OMIM:618314 |
| Oculoskeletodental Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Wide nasal bridge, Thick nasal a... |
ORPHA:557003 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Paresthesia, Hypokalemia, Increased circulating renin level, Decreased glomeru... |
OMIM:601198 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Increased serum lactate, Metabolic acidosis |
OMIM:618252 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy... |
OMIM:143400 |
| Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Renal sodium wasting, Hypokalemia, Hypokalemic metabolic alkal... |
ORPHA:320 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Sensorineural hearing impairment, Increased serum lactate, Failure to thrive, Dysphagia, Dehydrat... |
OMIM:618958 |
| Bartter Syndrome, Type 1, Antenatal |
|
Polyhydramnios, Hypokalemic metabolic alkalosis, Dehydration, Renal salt wasting, Hyperchloriduri... |
OMIM:601678 |
| Combined Malonic And Methylmalonic Aciduria |
|
Failure to thrive, Methylmalonic aciduria, Ketoacidosis, Dehydration |
OMIM:614265 |
| Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Hypercalciuria, Epistaxis, Tinnitus, Metabolic alkalosis, Polydipsia |
ORPHA:251274 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypertonic dehydration, Failure to thrive, Polyuria, Megacystis, Hypernatremia, Polydipsia |
OMIM:125800 |
| Dent Disease 2 |
|
Aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatine kinase conce... |
OMIM:300555 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypertonic dehydration, Failure to thrive, Polyuria, Megacystis, Hypernatremia, Polydipsia |
OMIM:304800 |
| Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Sensorineural hearing impairment, Nephrotic syndrome, S... |
OMIM:104200 |
| Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis, Polydipsia |
OMIM:606996 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Conductive hearing impairment, Hydronephrosis |
ORPHA:2669 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Lactic acidosis, Increased serum lactate, Failure to thrive, Increased blood urea nitrogen, Conge... |
OMIM:617872 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Proximal tubulopathy, Ataxia, Failure to thrive, Polyuria, Dehydration, Hearing impairment |
OMIM:560000 |
| Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Aminoaciduria, Hyperphosphaturia, Decreased plasma carnitine, Hypoph... |
OMIM:219800 |
| Nephrogenic Diabetes Insipidus |
|
Polyhydramnios, Hyposthenuria, Enuresis nocturna, Hypernatremic dehydration, Hydroureter, Failure... |
ORPHA:223 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Distal renal tubular acidosis, Impaired urinary acidification, Nephrocalcinosis, Hyp... |
OMIM:179800 |
| Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Sensorineural hearing impairment, Ataxia, Increased serum lactate, Profound sensorineural hearing... |
OMIM:619196 |
| Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Acidosis, Hypophosphatemia, Hypokalemia, Hyperchlor... |
ORPHA:411629 |
| Bartter Syndrome, Type 3 |
|
Hypokalemia, Renal salt wasting, Hypokalemic metabolic alkalosis, Increased circulating renin lev... |
OMIM:607364 |
| Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Renal tubular dysfun... |
OMIM:134600 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... |
OMIM:310468 |
| Primary Unilateral Adrenal Hyperplasia |
|
Decreased circulating renin level, Hypokalemia, Increased urinary potassium, Epistaxis, Tinnitus,... |
ORPHA:231580 |
| Fanconi-Bickel Syndrome |
|
Glycosuria, Hyperphosphaturia, Acidosis, Hypophosphatemia, Hypokalemia, Generalized aminoaciduria... |
OMIM:227810 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Increased serum lactate, Alaninuria, Metabolic acidosis |
OMIM:615158 |
| Blue Diaper Syndrome |
|
Hyperphosphatemia, Increased body weight, Blue urine, Hypercalcemia, Nephrocalcinosis, Metabolic ... |
ORPHA:94086 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Polyhydramnios, Hypokalemia, Medullary nephrocalcinosis, Increased circulating renin level, Hypoc... |
OMIM:300971 |
| Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
| 3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria, Episodic ketoacidosis, Ketoacidosis, Lactic acidosis |
OMIM:236795 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Positive Romber... |
OMIM:616515 |
| Hsd10 Disease, Neonatal Type |
|
Abnormal concentration of acylcarnitine in the urine, Metabolic acidosis, Lactic acidosis |
ORPHA:391457 |
| X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, Choreoathetosis, Narrow nasal bridge, Failure to thrive in infancy, Hearin... |
ORPHA:85285 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Failure to thrive, Renal insufficiency, Hyperammonemia, Dehydration |
ORPHA:28 |
| Familial Cold Urticaria |
|
Dysesthesia, Sensorineural hearing impairment, Polydipsia, Dehydration |
ORPHA:47045 |
| Combined Oxidative Phosphorylation Deficiency 44 |
|
Increased serum lactate |
OMIM:618855 |
| Phenformin 4-Hydroxylation |
|
Lactic acidosis |
OMIM:261590 |
| Bardet-Biedl Syndrome 17 |
|
Hyposmia, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Anosmia, Obesity, Micropenis, Pol... |
OMIM:615994 |
| Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia |
OMIM:211000 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Optic atrophy, Choreoathetosis, Failure to thrive, Hyperammonemia, Dehydration, Renal insufficien... |
ORPHA:79312 |
| Primary Fanconi Renotubular Syndrome |
|
Decreased plasma carnitine, Bicarbonate-wasting renal tubular acidosis, Hypophosphatemic rickets,... |
ORPHA:3337 |
| Granulomatous Slack Skin |
|
Acute kidney injury, Nephrocalcinosis, Hypercalcemia |
ORPHA:33111 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
| Liddle Syndrome |
|
Hypokalemia, Nephropathy, Renal insufficiency |
ORPHA:526 |
| Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Polyhydramnios, Phosphoethanolaminuria, Elevated urine pyrophospha... |
OMIM:241500 |
| Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Hyperuricosuria, Glycosuria, Hyperphosphaturia, Bicarbonate-wasting renal tubular ... |
ORPHA:47159 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Renal tubular acidosis, Failure to thrive, Hypercalcemia, Nephrocalcinosis, Hypercalciuria |
OMIM:239199 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperkalemia, Renal salt wasting, Failure to thrive, Hyponatremia, Dehydration, Metabolic acidosis |
OMIM:264350 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Decreased circulating renin level, Hyperkalemia, Hyperchloremic metabolic acidosi... |
OMIM:614492 |
| Osteootohepatoenteric Syndrome |
|
Grade II vesicoureteral reflux, Weight loss, Hypokalemia, Failure to thrive, Increased serum bile... |
OMIM:619377 |
| Renal Glucosuria |
|
Enuresis nocturna, Glycosuria, Polyuria, Polyphagia, Polydipsia |
OMIM:233100 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 18 |
|
Increased serum lactate |
OMIM:619062 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Paresthesia, Decreased circulating renin level, Hypokalemia, Increased urinary potassium, Epistax... |
ORPHA:231625 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration, Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Decreased p... |
ORPHA:79159 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Renal dysplasia, Pericardial effusion, Ascites, Pleural effusion, Polyuria, Recur... |
OMIM:618183 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... |
OMIM:609129 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Ketonuria, Metabolic ketoacidosis, Lactic acidosis, Increased serum lactate, Failure to thrive, E... |
OMIM:615453 |
| Urofacial Syndrome 2 |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Bladder trabeculation, Urinary urgency... |
OMIM:615112 |
| Cholera |
|
Abnormality of renal excretion, Acute kidney injury, Decreased urine output, Acidosis, Hypokalemi... |
ORPHA:173 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Failure to thrive, Duplicated collecting system, Sensorineural hearing impairment, Hydronephrosis |
OMIM:617093 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Limb dystonia, Torticollis, Abnormal repetitive mannerisms, Torsion dystonia, Fo... |
ORPHA:98807 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Nephrocalcinosis, Hydroureter, Multifocal epileptiform discharges, Large for gestational age, Ata... |
OMIM:615398 |
| Macdermot-Winter Syndrome |
|
Macrotia, Posteriorly rotated ears, Hydronephrosis |
OMIM:247990 |
| Hyperaldosteronism, Familial, Type Iii |
|
Decreased circulating renin level, Hypokalemia, Polyuria, Polydipsia, Hypercalciuria, Metabolic a... |
OMIM:613677 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Ketonuria, Hyperhomocystinemia, Elevated circulating palmitoleylcarnitine concentration, Failure ... |
OMIM:251120 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Proximal tubulopathy, Abnormal magnesium concentration, Hypokal... |
OMIM:241150 |
| Colchicine Poisoning |
|
Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Lactic acidosis, O... |
ORPHA:31824 |
| Huntington Disease |
|
Chorea, Weight loss, Abnormal circulating cholesterol concentration, Choking episodes, Abnormalit... |
ORPHA:399 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Large for gestational age, Hypour... |
OMIM:616026 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Choanal stenosis, Hyperphosphaturia, Hypophosphatemia, Hypercalcemia, Nephrocalcinosis, Hearing i... |
OMIM:156400 |
| Hinman Syndrome |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Enuresis, Renal insufficiency, Hydrone... |
ORPHA:84085 |
| Pearson Syndrome |
|
Lacticaciduria, Dysphagia, Dehydration, Hearing impairment, Hyperalaninemia, Hypophosphatemia, La... |
ORPHA:699 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Proximal tubulopathy, Hypophosphatemia, Medullary nephrocalcinosi... |
OMIM:619743 |
| Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Increased serum lactate, Lacticaciduria, Lactic acidosis |
ORPHA:79246 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia, Hyperchloremic metabolic acidosis, Metabolic acidosis |
OMIM:614496 |
| Dent Disease 1 |
|
Renal phosphate wasting, Aminoaciduria, Proximal tubulopathy, Stage 5 chronic kidney disease, Gly... |
OMIM:300009 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Renal salt wasting, Increased circulating renin level, Failure to thrive, Dehydrati... |
OMIM:610600 |
| Beta-Ketothiolase Deficiency |
|
Oral aversion, Hyperuricemia, Weight loss, Ketonuria, Acidosis, Agitation, Ataxia, Increased seru... |
ORPHA:134 |
| Fanconi-Bickel Syndrome |
|
Renal tubular acidosis, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Generalized aminoaciduri... |
ORPHA:2088 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
3-Methylglutaconic aciduria, Lactic acidosis |
OMIM:614053 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Hyperglycinemia, Methylmalonic acidemia, Stage 5 chronic kidney dis... |
OMIM:251000 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Renal insufficiency, Nephro... |
OMIM:614723 |
| Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Nephrocalcinosis, Failure to thrive, Interictal epileptiform activity, Polyhydramnios |
ORPHA:500533 |
| Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
| Sulfite Oxidase Deficiency, Isolated |
|
Macrotia, Multifocal epileptiform discharges, Choreoathetosis, Agitation, Elevated circulating cr... |
OMIM:272300 |
| Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Increased level of L-pyroglutamic acid in urine, Metabolic acidosis |
OMIM:231900 |
| Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Lacticaciduria, Increased serum pyruvate, Dehydration, Hypernatremia, Metabolic a... |
ORPHA:3008 |
| Propionic Acidemia |
|
Hyperglycinemia, Lactic acidosis, Failure to thrive, Increased level of hippuric acid in urine, H... |
OMIM:606054 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Increased serum lactate |
OMIM:615395 |
| Peroxisome Biogenesis Disorder 10B |
|
Nephrocalcinosis, Low-set ears, Posteriorly rotated ears, Neurogenic bladder |
OMIM:617370 |
| Congenital Myopathy 19 |
|
Depressed nasal ridge, Renal atrophy, Dysphagia, Low-set ears, Hearing impairment, Posteriorly ro... |
OMIM:618578 |
| Gitelman Syndrome |
|
Pericardial effusion, Tinnitus, Decreased urinary potassium, Polydipsia, Renal tubular acidosis, ... |
ORPHA:358 |
| Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Calcinosis, Hyperphosphaturia, Hypophosphatemia, Failure to thrive, Polyuria, Poly... |
OMIM:239200 |
| Renal Hypoplasia, Bilateral |
|
Vesicoureteral reflux, Beta 2-microglobulinuria, Small for gestational age, Glycosuria, Hyperkale... |
ORPHA:97362 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Nephrocalcinosis, Obesity, Polyhydramnios |
OMIM:615633 |
| Primary Hyperoxaluria Type 1 |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Dysuria, Nephrocalcinosis, Ca... |
ORPHA:93598 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Elevated serum bicarbonate concentration, Hypokalemia, Increased circulating reni... |
OMIM:214700 |
| Dent Disease |
|
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re... |
ORPHA:1652 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Increased circulating renin level, Renal salt wasting, Failure to thrive, Hyponatre... |
OMIM:203400 |
| 46,Xy Sex Reversal 4 |
|
Sensorineural hearing impairment, Prominent nose, Depressed nasal ridge, Renal dysplasia, Microti... |
OMIM:154230 |
| Ochoa Syndrome |
|
Urinary incontinence, Vesicoureteral reflux, Recurrent urinary tract infections, Renal insufficie... |
ORPHA:2704 |
| Familial Hyperaldosteronism Type I |
|
Epistaxis, Hypokalemia, Polydipsia, Tinnitus |
ORPHA:403 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment |
OMIM:601071 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Decreased body weight, Increased blood urea nitrogen, Failure to thrive, Hyperam... |
OMIM:620085 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Optic atrophy, Choreoathetosis, Ataxia, Hyperammonemia, Dehydration, Renal insufficiency |
ORPHA:27 |
| Nephronophthisis 1 |
|
Renal tubular atrophy, Hyposthenuria, Stage 5 chronic kidney disease, Renal corticomedullary cyst... |
OMIM:256100 |
| Refsum Disease, Classic |
|
Somatic sensory dysfunction, Sensorineural hearing impairment, Elevated circulating phytanic acid... |
OMIM:266500 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials, Ataxia, Decreased body weight, Failure to thrive |
ORPHA:99852 |
| Intellectual Disability-Strabismus Syndrome |
|
Polyhydramnios, Hyperactivity, Macrotia, Prominent nose, Narrow nasal ridge, Medullary nephrocalc... |
ORPHA:363528 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Slender build, Nephrocalcinosis, Polyhydramnios, Wide nasal bridge |
OMIM:611087 |
| Ectopic Aldosterone-Producing Tumor |
|
Decreased circulating renin level, Renal cortical adenoma, Hypokalemia, Epistaxis, Tinnitus, Meta... |
ORPHA:231632 |
| Bardet-Biedl Syndrome 9 |
|
Polyphagia, Truncal obesity, Renal insufficiency, Obesity, Polydipsia |
OMIM:615986 |
| Tricarboxylic Acid Cycle, Defect Of |
|
Persistent lactic acidosis |
OMIM:275370 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia, Hyperchloremic metabolic acidosis |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia, Hyperchloremic metabolic acidosis |
OMIM:614495 |
| Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
EEG abnormality, Choreoathetosis, Lacticaciduria, Increased serum lactate, Elevated lactate:pyruv... |
OMIM:618247 |
| Acetyl-Coa Acetyltransferase-2 Deficiency |
|
Increased serum lactate |
OMIM:614055 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Ataxia, Increased serum lactate, Failure to thrive, Tremor, Low-set ears |
OMIM:618951 |
| Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hearing impairment, Hyposmia |
OMIM:615266 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Hyperuricemia, Acute kidney injury, Renal cell carc... |
ORPHA:93111 |
| Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Renal insufficiency, Hyperc... |
ORPHA:99879 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Congenital megaureter, Wide nasal bridge, Renal dysplasia, Nephrocalcinosis... |
ORPHA:369837 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Increased serum lactate |
OMIM:616209 |
| Reticular Dysgenesis |
|
Weight loss, Failure to thrive, Hearing impairment, Dehydration, Chronic otitis media |
ORPHA:33355 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... |
OMIM:613095 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Proximal tubulopathy, Hypophosphatemia, Hypophosphatemic rickets, Low-mo... |
OMIM:300554 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Sensorineural hearing impairment, Prominent nose, Small for gestational age, Abnormality of the e... |
OMIM:214150 |
| Septo-Optic Dysplasia Spectrum |
|
Sensorineural hearing impairment, Septo-optic dysplasia, Hypoplasia of penis, Optic nerve hypopla... |
ORPHA:3157 |
| Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Hearing impairment, Hyposmia |
OMIM:615271 |
| Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Macrotia, Cystinuria, Lactic acidosis, Increased serum lactate, Failure to ... |
OMIM:606407 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Somatic sensory dysfunction, Sensorineural hearing impairment, Urinary bladder sphincter dysfunct... |
ORPHA:320401 |
| Senior-Boichis Syndrome |
|
Increased total bilirubin, Abnormal renal insterstitial morphology, Stage 5 chronic kidney diseas... |
ORPHA:84081 |
| Birk-Landau-Perez Syndrome |
|
Tubulointerstitial nephritis, Stage 3 chronic kidney disease, Optic atrophy, Increased circulatin... |
OMIM:617595 |
| Glucose-Galactose Malabsorption |
|
Weight loss, Hematuria, Failure to thrive, Hypercalcemia, Dehydration, Renal insufficiency, Hyper... |
ORPHA:35710 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Sensorineural hearing impairment, Pseudopapilledema, Renal dysplasia, Nephrotic syndrome, Unilate... |
OMIM:146255 |
| Hereditary Renal Hypouricemia |
|
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... |
ORPHA:94088 |
| Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Thickening of the tubular b... |
OMIM:266900 |
| Helix Syndrome |
|
Hypokalemia, Hypermagnesemia, Polyuria, Hypocalciuria, Xerostomia, Renal insufficiency, Nephrolit... |
OMIM:617671 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Increased serum lactate, Elevated lactate:pyruvate ratio, Severe lactic acidosis, Lactic acidosis |
OMIM:616111 |
| Early-Onset Familial Hypoaldosteronism |
|
Renal sodium wasting, Hyperkalemia, Increased circulating renin level, Failure to thrive, Dehydra... |
ORPHA:556030 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Aminoaciduria, EEG abnormality, Hyponatremia, Hypercholesterolemia, Dehydration, ... |
ORPHA:534 |
| Chronic Hiccup |
|
Dehydration, Weight loss, Abnormal eating behavior |
ORPHA:396 |
| Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Enuresis, Urethral valve, Urethral obstruction, ... |
OMIM:236730 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired vibration sensation in the lower limbs, Spastic ataxia, Limb ataxia, Impaired propriocep... |
ORPHA:251282 |
| Succinic Acidemia |
|
Lactic acidosis |
OMIM:600335 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Failure to thrive, Hyperchloremic metabolic acidosis, Dehydration |
OMIM:610370 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hyposmia, Unilateral renal agenesis, Hearing impairment, Anosmia, Micropenis |
OMIM:244200 |
| Dysmyelination With Jaundice |
|
Hydroureter, Hypoplasia of penis, Hydronephrosis |
OMIM:224250 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Ataxia, Torticollis, Abnormal head movements, Vertigo |
ORPHA:71518 |
| Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... |
OMIM:613496 |
| Familial Hyperaldosteronism Type Ii |
|
Epistaxis, Hypokalemia, Metabolic alkalosis, Tinnitus |
ORPHA:404 |
| Bor Syndrome |
|
Vesicoureteral reflux, Hydronephrosis, Multicystic kidney dysplasia, Renal insufficiency, Hypopla... |
ORPHA:107 |
| Neuroleptic Malignant Syndrome |
|
Chorea, Urinary incontinence, Hyperphosphatemia, Hyperuricemia, Acute kidney injury, Abnormal aut... |
ORPHA:94093 |
| Mitochondrial Myopathy, Lethal, Infantile |
|
Lactic acidosis |
OMIM:551000 |
| Rabson-Mendenhall Syndrome |
|
Wide nose, Increased C-peptide level, Macrotia, Diabetic ketoacidosis, Hypokalemia, Long penis, A... |
ORPHA:769 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Hyperalaninemia, Sensorineural hearing impairment, Increased serum lactate, Failure to thrive, Ac... |
OMIM:617950 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Increased serum lactate, Sensorineural hearing impairment, Increased serum pyruvate, Ataxia |
OMIM:545000 |
| Isolated Glycerol Kinase Deficiency |
|
Osteoporosis, Metabolic acidosis |
ORPHA:408 |
| Cockayne Syndrome Type 1 |
|
Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem auditory re... |
ORPHA:90321 |
| Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Neurogenic bladder, Hypospadias, Stage... |
OMIM:191800 |
| Nephronophthisis 2 |
|
Hyperkalemic metabolic acidosis, Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, A... |
OMIM:602088 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis, Lactic acidosis |
OMIM:618240 |
| Liddle Syndrome 1 |
|
Decreased circulating renin level, Hypokalemia, Hypokalemic alkalosis, Renal insufficiency, Metab... |
OMIM:177200 |
| Nephronophthisis 3 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... |
OMIM:604387 |
| Vesicoureteral Reflux 3 |
|
Ureter duplex, Recurrent urinary tract infections, Hydroureter, Grade IV vesicoureteral reflux, G... |
OMIM:613674 |
| Lesch-Nyhan Syndrome |
|
Hyperuricemia, Choreoathetosis, Dystonia, Dysphagia, Nephrocalcinosis, Opisthotonus, Nephrolithia... |
OMIM:300322 |
| 2P21 Microdeletion Syndrome |
|
Cystinuria, Lactic acidosis, Failure to thrive, Depressed nasal bridge, Low-set, posteriorly rota... |
ORPHA:163693 |
| Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Abnormal localization of kidney, Hearing impairment, Hydronephrosis |
ORPHA:195 |
| 8P23.1 Duplication Syndrome |
|
Wide nose, Hearing impairment, Hydronephrosis |
ORPHA:251076 |
| Developmental And Epileptic Encephalopathy 41 |
|
Hypsarrhythmia, Nephrocalcinosis, EEG abnormality |
OMIM:617105 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Aminoaciduria, Hyponatremia, Optic atrophy, Calcinosis, Hypokalemia, Renal artery stenosis, Dysph... |
OMIM:617913 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Membranoproliferative glomerulonephritis, Increased blood urea nitrogen, Pain in... |
ORPHA:251004 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Hyperlysinemia, Hyperlysinuria, Decreased plasma free carnitine, Choreoathetosis, Increased serum... |
OMIM:616034 |
| 3-Methylglutaconic Aciduria Type 7 |
|
3-Methylglutaconic aciduria, Opisthotonus, Choreoathetosis, Renal cyst, Increased serum lactate, ... |
ORPHA:445038 |
| Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypocalciuria, Renal magnesium wasting, Renal insufficiency, Hypomagnesemia |
OMIM:154020 |
| Idiopathic Hypercalciuria |
|
Calcium oxalate nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsor... |
ORPHA:2197 |
| Nephronophthisis 4 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... |
OMIM:606966 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Hypokalemia, Edema, Nephrolithiasis, Obesity, Abdominal obesity, Alkalosis |
OMIM:219090 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Aminoaciduria, Sensorineural hearing impairment, Methylmalonic acidemia, Lactic acidosis, Facial ... |
OMIM:612073 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Gait ataxia, Increased urine alpha-ketoglutarate concentration, Truncal ataxia, Episodic ataxia, ... |
OMIM:614458 |
| Wolcott-Rallison Syndrome |
|
Decreased body weight, Hyperbilirubinemia, Hyperammonemia, Ketoacidosis, Hyponatremia, Dehydratio... |
ORPHA:1667 |
| Peroxisome Biogenesis Disorder 9B |
|
Anosmia, Ataxia, Sensorineural hearing impairment, Elevated circulating phytanic acid concentration |
OMIM:614879 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Distal sensory im... |
OMIM:601382 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased plasma carnitine, Dicarboxylic aciduria, Elevated circulating creatine kinase concentra... |
OMIM:212140 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Metabolic acidosis |
OMIM:618235 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Abnormal urine output, Acute kidn... |
ORPHA:567548 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Rickets, Low-molecular-weight proteinuria, Metaboli... |
OMIM:615605 |
| Methylmalonic Aciduria, Cbla Type |
|
Hyperglycinemia, Methylmalonic acidemia, Ketonuria, Failure to thrive, Hyperammonemia, Tremor, De... |
OMIM:251100 |
| Image Syndrome |
|
Low-set ears, Hypospadias, Depressed nasal bridge, Hydronephrosis |
ORPHA:85173 |
| Primary Hyperoxaluria |
|
Elevated urine glycolate, Optic atrophy, Optic disc pallor, Calcium oxalate nephrolithiasis, Stag... |
ORPHA:416 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
3-Methylglutaconic aciduria, Sensorineural hearing impairment, Optic atrophy, Lactic acidosis, In... |
OMIM:614739 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Decreased circulating renin level, Hypokalemia, Athetosis, Nephrolithiasis, Metabolic alkalosis |
OMIM:615474 |
| 6P22 Microdeletion Syndrome |
|
Low-set ears, Hydronephrosis, Hearing impairment, Overfolded helix |
ORPHA:251046 |
| Indifference To Pain, Congenital, Autosomal Recessive |
|
Urinary incontinence, Abnormal nerve conduction velocity, Paresthesia, Hyposmia, Abnormal autonom... |
OMIM:243000 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Optic atrophy, Increased serum lactate, Failure to thrive, Neonatal death, Dystonia, Hearing impa... |
OMIM:618237 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Increased serum lactate, Metabolic acidosis, Lactic acidosis |
ORPHA:91130 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Hypermagnesiuria, Renal calci... |
OMIM:248190 |
| Paget Disease Of Bone 6 |
|
Nephrocalcinosis |
OMIM:616833 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Increased serum lactate, Edema, Proteinuria, Hypoalbuminemia |
OMIM:614652 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria... |
OMIM:612925 |
| Primary Hyperoxaluria Type 3 |
|
Pollakisuria, Calcium oxalate nephrolithiasis, Dysuria, Abnormality of urine homeostasis, Hematur... |
ORPHA:93600 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Aminoaciduria, Sensorineural hearing impairment, Ataxia, Lactic acidosis, Nephrocalcinosis |
OMIM:616084 |
| Orofaciodigital Syndrome Xv |
|
Low-set ears, Anteverted nares, Wide nasal bridge, Hydronephrosis |
OMIM:617127 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Anosmia, Sensorineural hearing impairment, Micropenis, Hyposmia |
OMIM:612702 |
| Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Ataxia, Renal fibrosis, Depress... |
OMIM:618161 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphaturia, Hypophosphate... |
ORPHA:157215 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Hemolytic-uremic syndrome, Abnormal renal physiology, Increased serum lactate, Increased blood ur... |
OMIM:274150 |
| Senior-Loken Syndrome 3 |
|
Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Nephronophthisis, Enuresi... |
OMIM:606995 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Sensorineural hearing impairment, Nephrotic syndrome, Elevated circulating creatine kinase concen... |
OMIM:617713 |
| Wilson Disease |
|
Aminoaciduria, Pedal edema, Limb dystonia, Hyperphosphaturia, Decreased circulating ceruloplasmin... |
OMIM:277900 |
| Liddle Syndrome 3 |
|
Hypokalemia, Metabolic alkalosis |
OMIM:618126 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Choreoath... |
OMIM:617519 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Overhanging nasal tip, Hypsarrhythmia, Unilateral renal agenesis, Recurrent otitis media, Low han... |
OMIM:618494 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Increased serum lactate, Osteoporosis, Lactic acidosis, Metabolic acidosis |
OMIM:618234 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Optic atrophy, Failure to thrive, Dystonia, Eth... |
ORPHA:26792 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Hyperalaninemia, Nonimmune hydrops fetalis, Lactic acidosis, Lacticaciduria, Elevated lactate:pyr... |
OMIM:619003 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Hydronephrosis, Pedal edema, Weight loss, Nephrotic syndrome, Acute kidney injury, Dysuria, Renal... |
ORPHA:49041 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Hyperalaninemia, Sensorineural hearing impairment, Metabolic acidosis |
ORPHA:2597 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Glomerulopathy, Hemolytic-uremic syndrome, Methylmalonic aciduria, Hydrops fetalis, Methylmalonic... |
ORPHA:79282 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Rhinitis, Nocturia, Elevated urinary dopamine, Vertigo, Increased blood urea nitrogen, Dehydratio... |
ORPHA:230 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Recurrent hand flapping, Agitation, Compulsive behaviors, Prominent ear helix, Imp... |
ORPHA:100973 |
| Hyperoxaluria, Primary, Type I |
|
Optic atrophy, Calcium oxalate nephrolithiasis, Hematuria, Optic neuropathy, Dehydration, Nephroc... |
OMIM:259900 |
| Nephronophthisis 11 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubular base... |
OMIM:613550 |
| Marcus-Gunn Syndrome |
|
Abnormal fifth cranial nerve morphology, Abnormal ear morphology, Abnormality of the sense of sme... |
ORPHA:91412 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Chorea, Hyperactivity, Abnormal head movements, Ataxia, Athetosis, Dystonia |
ORPHA:382 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... |
OMIM:612926 |
| Methylmalonic Aciduria, Cblb Type |
|
Hyperglycinemia, Methylmalonic acidemia, Ketonuria, Failure to thrive, Hyperammonemia, Dehydratio... |
OMIM:251110 |
| Panhypophysitis |
|
Hyposthenuria, Sensorineural hearing impairment, Hyponatremia, Orthostatic hypotension, Polydipsia |
ORPHA:95513 |
| Glycogen Storage Disease 0, Liver |
|
Increased serum lactate |
OMIM:240600 |
| Isovaleric Acidemia |
|
Dehydration, Ketoacidosis, Hyperglycinuria, Metabolic acidosis |
OMIM:243500 |
| Alpha-Methylacetoacetic Aciduria |
|
Episodic ketoacidosis, Dehydration |
OMIM:203750 |
| Parathyroid Carcinoma |
|
Nephroblastoma, Weight loss, Renal hamartoma, Hypophosphatemia, Renal cyst, Polydipsia, Hypercalc... |
ORPHA:143 |
| Mohr-Tranebjaerg Syndrome |
|
Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... |
ORPHA:52368 |
| Lactase Deficiency, Congenital |
|
Dehydration, Metabolic acidosis |
OMIM:223000 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Hyperuricemia, Weight loss, Ketonuria, EEG abnormality, Hypsarrhythmia, Ataxia, Increased serum l... |
ORPHA:20 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Dehydration, Neonatal death, Myoglobinuria, Metabolic acidosis |
OMIM:602199 |
| Scorpion Envenomation |
|
Paresthesia, Pulmonary edema, Ketonuria, Acute kidney injury, Glycosuria, Hypokalemia, Ataxia, In... |
ORPHA:466677 |
| Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Hematuria, Elevated circulating creatine kinase concentration, Increased bl... |
ORPHA:231111 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... |
OMIM:612924 |
| Lamellar Ichthyosis |
|
Dehydration, Renal insufficiency, Chronic otitis media, Abnormal helix morphology |
ORPHA:313 |
| Microvillus Inclusion Disease |
|
Dehydration, Nephrocalcinosis, Abnormal renal physiology, Metabolic acidosis |
ORPHA:2290 |
| Mercury Poisoning |
|
Acute kidney injury, Hypokalemia, Tremor, Dystonia |
ORPHA:330021 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Weight loss, Hyperkalemia, Increased circulating renin level, Recurrent upper and lower respirato... |
ORPHA:171876 |
| Tyrosinemia, Type I |
|
Hypermethioninemia, Enlarged kidney, Ascites, Glomerular sclerosis, Elevated circulating alpha-fe... |
OMIM:276700 |
| Glucose/Galactose Malabsorption |
|
Glycosuria, Failure to thrive, Hypertonic dehydration, Metabolic acidosis |
OMIM:606824 |
| Wolfram Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Recurrent urinary tract infections, Dysuria, Abn... |
ORPHA:3463 |
| Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
| Leigh Syndrome With Leukodystrophy |
|
Optic atrophy, Acidosis, Increased serum lactate, Failure to thrive, Progressive cerebellar ataxi... |
ORPHA:255241 |
| 22Q11.2 Duplication Syndrome |
|
Wide nose, Depressed nasal ridge, Abnormal repetitive mannerisms, Compulsive behaviors, Hearing i... |
ORPHA:1727 |
| Romano-Ward Syndrome |
|
Abnormal autonomic nervous system physiology, Hypokalemia, Hearing impairment |
ORPHA:101016 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Hyperalaninemia, Wide nasal bridge, Small for gestational age, Choreoathetosis, Episodic ataxia, ... |
OMIM:312170 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Sensorineural hearing impairment, Proximal renal tubular acidosis, Lactic acidosis... |
OMIM:615824 |
| Hereditary Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:30925 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Polyhydramnios, 3-Methylglutaconic aciduria, Opisthotonus, Choreoathetosis, Ataxia, Increased ser... |
OMIM:616271 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Abnormality of the sense of smell, Micropenis |
OMIM:146110 |
| Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Optic atrophy, Ataxia, Increased serum lactate, Failure to thrive, Dysmetria, Dystonia, Hearing i... |
OMIM:617954 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Increased serum lactate, Sensorineural hearing impairment, Elevated circulating creatine kinase c... |
OMIM:617070 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Hypoplastic helices, EEG abnormality, Abnormality of the ear, Abnormality of the kidney, Repetiti... |
ORPHA:391372 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Elevated circulating creatine kinase concentration, Posteriorly rotated ears, In... |
OMIM:608836 |
| Arima Syndrome |
|
Renal tubular atrophy, Optic atrophy, Stage 5 chronic kidney disease, Renal sodium wasting, Polyc... |
OMIM:243910 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Tubulointerstitial nephritis, Increased serum lactate, Elevated lactate:pyruvate ratio, Ketoacido... |
OMIM:614582 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Depressed nasal ridge, Recurrent urinary tract infections, Acute kidney injury, Enlarged kidney, ... |
ORPHA:731 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Hypocalcemic tetany, Pulmonary edema, Hypermagnesiuria, Perica... |
ORPHA:73224 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Increased circulating renin level, Failure to thrive, Hyponatremia, Dehydration, Me... |
OMIM:177735 |
| Mitochondrial Myopathy With Lactic Acidosis |
|
Moderate sensorineural hearing impairment, Hyperalaninemia, Lactic acidosis, Increased serum lact... |
OMIM:251950 |
| Hsd10 Disease, Infantile Type |
|
Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urinary tract, Opt... |
ORPHA:391428 |
| Hsd10 Mitochondrial Disease |
|
Sensorineural hearing impairment, Optic atrophy, Elevated circulating tiglylglycine concentration... |
OMIM:300438 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Lactic acidosis, Increased serum lactate, Tremor, Progressive cerebellar ataxia, Dystonia, Hearin... |
ORPHA:139485 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Dehydration |
OMIM:601410 |
| Fragile X Syndrome |
|
Recurrent hand flapping, Hyperactivity, Macrotia, Abnormal head movements |
OMIM:300624 |
| Williams-Beuren Region Duplication Syndrome |
|
Small for gestational age, Unilateral renal agenesis, Failure to thrive, Attention deficit hypera... |
OMIM:609757 |
| Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Paresthesia, Optic atrophy, Writer's cramp, Nephrocalcinosis, Hypocalcemia, Hy... |
ORPHA:428 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| 3-Methylglutaconic Aciduria Type 9 |
|
Urinary incontinence, 3-Methylglutaconic aciduria, Optic atrophy, EEG abnormality, Hypsarrhythmia... |
ORPHA:505216 |
| Xanthinuria, Type I |
|
Xanthinuria, Pyelonephritis, Xanthine nephrolithiasis, Hydronephrosis |
OMIM:278300 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephroblastoma, Renal hamartoma, Hypophosphatemia, Renal cyst, Polydipsia, Hypercalcemia, Dysphag... |
ORPHA:99880 |
| Combined Oxidative Phosphorylation Deficiency 5 |
|
Abnormal renal tubule morphology, Lactic acidosis, Increased serum lactate, Edema, Hyperammonemia... |
OMIM:611719 |
| Apnea, Central Sleep |
|
Urinary incontinence, Lactic acidosis |
OMIM:207720 |
| Apparent Mineralocorticoid Excess |
|
Small for gestational age, Decreased circulating renin level, Hypokalemia, Failure to thrive, Met... |
OMIM:218030 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Sensorineural hearing impairment, Hyposmia, Anosmia, Micropenis, Choanal atresia |
OMIM:147950 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Mild neurosensory hearing impairment, Optic atrophy, Decreased motor nerve conduction velocity, P... |
OMIM:601152 |
| Riboflavin Deficiency |
|
Metabolic acidosis, Dicarboxylic aciduria, Lactic acidosis |
OMIM:615026 |
| Hypokalemic Tubulopathy And Deafness |
|
Acidosis, Renal salt wasting |
OMIM:619406 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sensorineural hearing impairment, Optic atrophy, Hydroureter, Abnormal autonomic nervous system p... |
OMIM:598500 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Acute kidney injury, Hemoglobinuria, Unconjugated hyperbilirubinemia, Hypokalemia, Hypona... |
ORPHA:90038 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperphosphatemia, Calcinosis, Decreased renal tubular phosphate excretion, Nephrocalcinosis, Inc... |
OMIM:211900 |
| Teratoma, Pineal |
|
Polyuria, Polydipsia |
OMIM:273120 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Hyperalaninemia, Sensorineural hearing impairment, Agitation, Lactic acidosis, Increased serum la... |
OMIM:619046 |
| Floating-Harbor Syndrome |
|
Conductive hearing impairment, Congenital posterior urethral valve, Stage 5 chronic kidney diseas... |
ORPHA:2044 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia, Decreased urinary potassium |
OMIM:611489 |
| Adrenocortical Carcinoma |
|
Weight loss, Hypokalemia, Abnormality of urine homeostasis, Increased urinary cortisol level, Inc... |
ORPHA:1501 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Paresthesia, Hypokalemia, Cachexia, Xerostomia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Hyperalaninemia, Sensorineural hearing impairment, Lactic acidosis, Increased serum lactate, Fail... |
OMIM:616974 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Hyperkalemia, Com... |
ORPHA:293987 |
| Johnson Neuroectodermal Syndrome |
|
Choanal stenosis, Conductive hearing impairment, Microtia, Facial palsy, Anosmia, Micropenis, Pro... |
OMIM:147770 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal auditory evoked potentials, Abnormal autonomic nervous system physiology, Action tremor,... |
ORPHA:99027 |
| Hyperkalemic Periodic Paralysis |
|
Paresthesia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration, Hypon... |
ORPHA:682 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
EEG with periodic lateralized epileptiform discharges, Upper limb postural tremor, Nonimmune hydr... |
ORPHA:477774 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hyperphosphaturia, Hypophosphatemic rickets, Medullary nephrocalcinosis |
OMIM:613312 |
| Erdheim-Chester Disease |
|
Weight loss, Dysuria, Ataxia, Pleural effusion, Joint swelling, Renal insufficiency, Polydipsia, ... |
ORPHA:35687 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Weight loss, Ketonuria, Glycosuria, Moderate albuminuria, Abnormality of the upper urinary tract,... |
ORPHA:99885 |
| Glycerol Kinase Deficiency |
|
Small for gestational age, Increased urinary glycerol, Ketoacidosis, Low-set ears, Hypertriglycer... |
OMIM:307030 |
| Huntington Disease-Like 1 |
|
Gait ataxia, Chorea, Abnormal head movements, Weight loss, EEG abnormality, Dysmetria, Restlessne... |
ORPHA:157941 |
| 3-Methylglutaconic Aciduria, Type Ix |
|
Urinary incontinence, 3-Methylglutaconic aciduria, Optic atrophy, Hypsarrhythmia, Choreoathetosis... |
OMIM:617698 |
| Pediatric-Onset Graves Disease |
|
Hyperactivity, Oligohydramnios, Failure to thrive, Tremor, Polyphagia, Polydipsia |
ORPHA:525731 |
| Recombinant Chromosome 8 Syndrome |
|
Depressed nasal bridge, Anteverted nares, Low-set ears, Hearing impairment, Posteriorly rotated e... |
OMIM:179613 |
| Refsum Disease |
|
Anosmia, Renal insufficiency, Sensorineural hearing impairment, Ataxia |
ORPHA:773 |
| Hereditary Xanthinuria |
|
Uric acid nephrolithiasis, Crystalluria, Recurrent urinary tract infections, Acute kidney injury,... |
ORPHA:3467 |
| Hawkinsinuria |
|
4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Metabolic acidosis |
ORPHA:2118 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Proximal tubulopathy, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Acidosis, Ge... |
OMIM:231680 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Failure to thrive, Recurrent bronchiolitis, Polyhydramnios, Dehydration |
OMIM:616069 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
3-Methylglutaconic aciduria, Hyperalaninemia, Wide nasal bridge, Small for gestational age, Ataxi... |
OMIM:614052 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Wide nasal bridge, Small for gestational age, Prominent nasal tip, Repetitive comp... |
ORPHA:352490 |
| Developmental And Epileptic Encephalopathy 53 |
|
Increased serum lactate, Hypsarrhythmia, Dystonia, Elevated circulating creatine kinase concentra... |
OMIM:617389 |
| Jeavons Syndrome |
|
EEG with hyperventilation-induced epileptiform discharges, Abnormal head movements, EEG with foca... |
ORPHA:139431 |
| Monocarboxylate Transporter 1 Deficiency |
|
Ketoacidosis, Ketonuria |
OMIM:616095 |
| Hyperostosis Cranialis Interna |
|
Sensorineural hearing impairment, Hyposmia, Optic atrophy, Abnormal vestibular function, Anosmia,... |
OMIM:144755 |
| Leprechaunism |
|
Wide nose, Decreased body weight, Nephrocalcinosis, Enlarged kidney, Hypokalemia, Hypercalciuria,... |
ORPHA:508 |
| Primary Hyperoxaluria Type 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, ... |
ORPHA:93599 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, 3-Methylglutaconic aciduria, Hearing impairment, Lactic acidosis |
ORPHA:67048 |
| Oxoglutarate Dehydrogenase Deficiency |
|
Increased serum lactate, Congenital lactic acidosis, Metabolic acidosis |
OMIM:203740 |
| Whipple Disease |
|
Pedal edema, Cachexia, Ataxia, Hyponatremia, Polydipsia |
ORPHA:3452 |
| Acquired Central Diabetes Insipidus |
|
Polydipsia, Pollakisuria, Weight loss |
ORPHA:95626 |
| Posterior Urethral Valve |
|
Vesicoureteral reflux, Hydronephrosis, Urinary incontinence, Enuresis nocturna, Urinary retention... |
ORPHA:93110 |
| Glycogen Storage Disease Xi |
|
Increased serum lactate, Renal insufficiency, Myoglobinuria |
OMIM:612933 |
| Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Increased serum lactate |
OMIM:618244 |
| Wolfram Syndrome 1 |
|
Sensorineural hearing impairment, Optic atrophy, Neurogenic bladder, Hydroureter, Ataxia, Tremor,... |
OMIM:222300 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Hydrops fetalis, Wide nasal bridge, Small for gestational age, Short nose, Pleura... |
OMIM:616897 |
| 3-Methylglutaconic Aciduria, Type I |
|
Urinary incontinence, 3-Methylglutaconic aciduria, Optic atrophy, Ataxia, Failure to thrive, Athe... |
OMIM:250950 |
| Suleiman-El-Hattab Syndrome |
|
Wide nasal bridge, Failure to thrive, Overfolded helix, Low-set ears, Optic disc pallor, Hearing ... |
OMIM:618950 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Abnormality of peripheral nerve conduction, Urinary retention, Weight loss,... |
ORPHA:79102 |
| Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin, Alaninuria, Lactic acidosis, Increased serum lactate, Lacticaciduria, ... |
OMIM:616299 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Increased serum lactate, Lactic acidosis |
OMIM:616198 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Metabolic acidosis |
OMIM:301021 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Tremor, Weight loss |
OMIM:613239 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Hyperalaninemia, Hyperglycinemia, Lacticaciduria, Increased serum lactate, Elevate... |
OMIM:619386 |
| Mitochondrial Complex I Deficiency, Nuclear Type 34 |
|
Metabolic acidosis, Lactic acidosis |
OMIM:618776 |
| Usher Syndrome Type 1 |
|
Vestibular hypofunction, Sensorineural hearing impairment, Ataxia, Abnormal cochlea morphology |
ORPHA:231169 |
| Adrenal Hypoplasia, Congenital |
|
Dehydration, Failure to thrive, Renal salt wasting, Hyponatremia |
OMIM:300200 |
| Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Glycosuria, Nephropathy, Elevated hemoglobin A1c, Dehydration... |
ORPHA:69076 |
| Christianson Syndrome |
|
Gait ataxia, Macrotia, Truncal ataxia, Cachexia, Abnormal repetitive mannerisms, Dysphagia, Dysto... |
ORPHA:85278 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Increased serum lactate, Metabolic acidosis |
OMIM:610090 |
| Hyperoxaluria, Primary, Type Ii |
|
Calcium oxalate nephrolithiasis, Hematuria, Nephrocalcinosis, Renal insufficiency, Hyperoxaluria |
OMIM:260000 |
| Distal Trisomy 6P |
|
Aplasia/Hypoplasia of the earlobes, Abnormal antitragus morphology, Renal hypoplasia, Abnormality... |
ORPHA:1745 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Gait ataxia, Narrow nasal ridge, Dysdiadochokinesis, Small for gestational ... |
OMIM:606721 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Polyhydramnios, Conductive hearing impairment, Sensorineural hearing impairment, Renal dysplasia,... |
OMIM:300990 |
| Sengers Syndrome |
|
Increased serum lactate, 3-Methylglutaconic aciduria, Exercise-induced lactic acidemia |
OMIM:212350 |
| Usher Syndrome Type 3 |
|
Vestibular hypofunction, Sensorineural hearing impairment, Ataxia, Abnormal cochlea morphology |
ORPHA:231183 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Short nose, Depressed nasal bridge, Anosmia, Short nasal septum, Hearing impairment |
OMIM:302950 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia, Dehydration, Metabolic acidosis |
OMIM:620126 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, EEG with focal spikes, Hypsarrhythmia, EEG with focal sharp waves, Lac... |
ORPHA:79243 |
| Joubert Syndrome 37 |
|
Wide nose, Wide nasal bridge, Anteverted nares, Low-set ears, Obesity, Micropenis, Posteriorly ro... |
OMIM:619185 |
| Sulfide:Quinone Oxidoreductase Deficiency |
|
Lactic acidosis |
OMIM:619221 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Decreased plasma carnitine, Elevated plasma br... |
ORPHA:2394 |
| D-Glyceric Aciduria |
|
Chorea, Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia,... |
ORPHA:941 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia, Dehydration, Metabolic acidosis |
OMIM:620125 |
| Johanson-Blizzard Syndrome |
|
Underdeveloped nasal alae, Abnormal nostril morphology, Sensorineural hearing impairment, Hypopla... |
ORPHA:2315 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Hyperalaninemia, Lactic acidosis, Increased serum lactate, Failure to thrive, Depressed nasal bri... |
OMIM:618378 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased serum lactate, Lactic acidosis |
OMIM:617228 |
| Acute Adrenal Insufficiency |
|
Hyperuricemia, Weight loss, Hyperkalemic metabolic acidosis, Hyperkalemia, Renal salt wasting, In... |
ORPHA:95409 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Short nose, Failure to thrive, Anteverted nares, Renal hypoplasia, Low-set... |
OMIM:613735 |
| Johnson Neuroectodermal Syndrome |
|
Conductive hearing impairment, Microtia, Facial palsy, Choanal atresia, Failure to thrive, Anosmi... |
ORPHA:2316 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Small for gestational age, Lactic acidosis, Increased serum lactate, Edema, Low-set ears, Neonata... |
OMIM:610498 |
| Kallmann Syndrome |
|
Sensorineural hearing impairment, Hyposmia, Renal agenesis, Hypoplasia of penis, Ataxia, Tremor, ... |
ORPHA:478 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Optic atrophy, Small for gestational age, Pericardial effusion, Lactic acidosis,... |
OMIM:614702 |
| Congenital Hypothyroidism |
|
Paresthesia, Depressed nasal ridge, Optic atrophy, Anosmia, Palpebral edema, Nephrolithiasis, Hea... |
ORPHA:442 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Weight loss, Edema, Dehydration, Abnormal circ... |
ORPHA:103910 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hyperglycinemia, Hypertaurinemia, Lactic acidosis, Lacticaciduria, Failure to thrive, Elevated la... |
OMIM:245400 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Vesicoureteral reflux, Polyhydramnios, Small for gestational age, Large earlobe, Optic nerve hypo... |
OMIM:301056 |
| Optic Atrophy 11 |
|
Hyperactivity, Macrotia, Optic atrophy, EEG with focal sharp waves, Optic nerve hypoplasia, Incre... |
OMIM:617302 |
| Ethylene Glycol Poisoning |
|
Cerebral edema, Pulmonary edema, Facial palsy, Decreased urine output, Renal tubular epithelial n... |
ORPHA:31826 |
| Diabetes Mellitus, Ketosis-Prone |
|
Ketoacidosis |
OMIM:612227 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Gait ataxia, Urinary incontinence, Somatic sensory dysfunction, Sensorineural hearing impairment,... |
ORPHA:101085 |
| Trisomy 13 |
|
Abnormal antihelix morphology, Hydronephrosis, Hydrops fetalis, Sensorineural hearing impairment,... |
ORPHA:3378 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Macrotia, Recurrent hand flapping, Abnormality of pain sensation, Ataxia, Hypospadias, Tremor, An... |
ORPHA:544254 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Alpha-aminoadipic aciduria, Elevated circulating 2-hydroxybutyric acid concentration, Hyperglycin... |
OMIM:605711 |
| Pendred Syndrome |
|
Sensorineural hearing impairment, Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Ataxia... |
ORPHA:705 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Increased susceptibility to fractures, Hyperphosphaturia, Osteopenia, Ne... |
OMIM:612287 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Increased serum lactate |
OMIM:617613 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Chorea, Abnormal head movements |
OMIM:616939 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Ataxia, Progressive sensorineural hearing impairment, Optic ... |
OMIM:125250 |
| Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Increased serum lactate, Choreoathetosis, Progressive sensorineural hearing impairment, Ataxia |
OMIM:301020 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
| Branchiootorenal Syndrome 1 |
|
Renal steatosis, Vesicoureteral reflux, Abnormal renal collecting system morphology, Conductive h... |
OMIM:113650 |
| D-Glyceric Aciduria |
|
Aminoaciduria, Sensorineural hearing impairment, Hypsarrhythmia, Optic nerve hypoplasia, Failure ... |
OMIM:220120 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Conductive hearing impairment, Wide nasal bridge, EEG abnormality, Renal hy... |
ORPHA:819 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypercholesterolemia, Hyperuricemia, Stage 5 chronic kidney disease, Enlarged kidney, Lactic acid... |
ORPHA:79259 |
| Autosomal Agammaglobulinemia |
|
External ear malformation, Failure to thrive, Chronic otitis media, Dehydration |
ORPHA:33110 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Increased serum lactate, Severe lactic acidosis |
OMIM:616794 |
| Genetic Recurrent Myoglobinuria |
|
Hyperphosphatemia, Acute kidney injury, Exercise-induced myoglobinuria, Highly elevated creatine ... |
ORPHA:99845 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Macrotia, Hydronephrosis |
OMIM:619797 |
| Cardiomyopathy, Dilated, 2C |
|
Increased serum lactate |
OMIM:618189 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Neonatal death, Enlarged kidney, Polycystic kidney dysplasi... |
OMIM:263200 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Decreased calvarial ossification, Craniosynostosis, Arthrogryposis multipl... |
OMIM:618265 |
| Episodic Ataxia Type 4 |
|
Ataxia, Abnormal head movements, Vertigo |
ORPHA:79136 |
| Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Anosmia, Hearing impairment |
OMIM:615267 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased serum lactate |
ORPHA:457050 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Reduced ratio of renal calcium clearance to creatinine clearance, Paratho... |
ORPHA:405 |
| Huntington Disease-Like 3 |
|
Chorea, Urinary incontinence, Abnormal head movements, Progressive gait ataxia, Dystonia |
ORPHA:157946 |
| Netherton Syndrome |
|
Ectopic kidney, Aminoaciduria, Dehydration, Hydronephrosis |
ORPHA:634 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urine acetoacetic acid level, Hypoornithinemia, Hyperalaninemia, Ketonuria, Elevated uri... |
OMIM:615751 |
| Combined Oxidative Phosphorylation Deficiency 43 |
|
Increased serum lactate |
OMIM:618851 |
| Orthostatic Hypotension 1 |
|
Nocturia, Increased blood urea nitrogen, Nasal congestion, Orthostatic hypotension, Hypomagnesemia |
OMIM:223360 |
| Desmoid Tumor |
|
Osteolysis, Abnormality of the upper urinary tract, Limitation of joint mobility, Hydronephrosis |
ORPHA:873 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum lactate, Organic aciduria, Lactic acidosis |
OMIM:614741 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Macrotia, Sensorineural hearing impairment, Wide nasal bridge, EEG abnormality, Prominent nasal t... |
OMIM:612513 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyposmia, Obesity, Anosmia, Polyphagia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperuricemia, Hypernatriuria, Increased circulating renin level, Vertigo, ... |
ORPHA:90041 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Hyperalaninemia, Renal tubular acidosis, Small for gestational age, Choreoathetosis, Ataxia, Lact... |
OMIM:615471 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Underdeveloped nasal alae, Macrotia, Hypoplasia of penis, Short nose, Prominent nasal bridge, Ove... |
ORPHA:2083 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Gait ataxia, Aminoaciduria, Proximal tubulopathy, Weight loss, Cachexia, Severe lactic acidosis, ... |
OMIM:612075 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Impaired vibration sensation in the lower limbs, Spastic ataxia, Optic atrophy, Truncal ataxia, S... |
ORPHA:137898 |
| Trisomy 8P |
|
Conductive hearing impairment, Short nose, Depressed nasal bridge, Recurrent upper respiratory tr... |
ORPHA:264450 |
| Combined Oxidative Phosphorylation Deficiency 13 |
|
Sensorineural hearing impairment, Choreoathetosis, Increased serum lactate, Decreased nerve condu... |
OMIM:614932 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Small for gestational age, Limb dystonia, Torticollis, Choreoathetosis, Ataxia, Elevated circulat... |
OMIM:619054 |
| Familial Hypoaldosteronism |
|
Hyperkalemia, Renal salt wasting, Proximal renal tubular acidosis, Increased circulating renin le... |
ORPHA:427 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Postprandial hyperlactemia, Abnormality of the kidney, Intermittent lactic acidemia, Osteopenia, ... |
ORPHA:369 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Vesicoureteral reflux, Hydronephrosis, Polyhydramnios, Renal dysplasia, Bladder trabeculation, Ch... |
OMIM:614080 |
| Diarrhea 12, With Microvillus Atrophy |
|
Osteopenia, Metabolic acidosis |
OMIM:619445 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyperkalemia, Renal salt wasting, Increased circulating renin level, Failure to thrive, Hypospadi... |
ORPHA:90791 |
| Aural Atresia, Congenital |
|
Conductive hearing impairment, Hyposmia, Atresia of the external auditory canal |
OMIM:607842 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 4 |
|
Increased urine alpha-ketoglutarate concentration, Ataxia, Increased serum lactate, Increased ser... |
OMIM:619224 |
| Galactosemia I |
|
Aminoaciduria, Increased level of galactonate in red blood cells, Hypergalactosemia, Increased le... |
OMIM:230400 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hyperalaninemia, Decreased plasma free carnitine, Increased urine succinate level, Failure to thr... |
OMIM:619048 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Polyhydramnios, Wide nasal bridge, Short nose, Failure to thrive, Nephrocalcinosis |
OMIM:618005 |
| Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Increased serum lactate, Stiff neck, Lactic acidosis |
OMIM:618230 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Alpha-aminoadipic aciduria, Elevated urine acetoacetic acid level, 3-Methylglutaconic aciduria, G... |
OMIM:620089 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Sensorineural hearing impairment, Ataxia, Increased serum lactate, Dystonia, Hearing impairment |
OMIM:616684 |
| Acute Peripheral Arterial Occlusion |
|
Acidosis |
ORPHA:90064 |
| Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Increased serum lactate |
ORPHA:320360 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Weight loss |
OMIM:188580 |
| Uremic Pruritus |
|
Stage 5 chronic kidney disease, Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Re... |
ORPHA:94059 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Obesity, Anosmia, Micropenis, Hyposmia |
OMIM:610628 |
| Arthrogryposis Multiplex Congenita 5 |
|
Polyhydramnios, Macrotia, Wide nasal bridge, Prominent nasolabial fold, Medullary nephrocalcinosi... |
OMIM:618947 |
| Secondary Short Bowel Syndrome |
|
Weight loss, Aganglionic megacolon, Abnormal blood ion concentration, Failure to thrive, Polyphag... |
ORPHA:95427 |
| Lysosomal Acid Lipase Deficiency |
|
Abnormal urine potassium concentration, Hypercholesterolemia, Weight loss, Cachexia, Acidosis, Re... |
ORPHA:275761 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Optic atrophy, Small for gestational age, Lactic acidosis, Increased serum lactate, Oligohydramni... |
OMIM:618253 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hyperalaninemia, Sensorineural hearing impairment, Small for gestational age, Increased serum lac... |
OMIM:619147 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased serum lactate, Lactic acidosis, Metabolic acidosis |
OMIM:614096 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Nephrocalcinosis, Tympanosclerosis |
OMIM:240300 |
| Superficial Siderosis |
|
Paresthesia, Dysdiadochokinesis, Progressive gait ataxia, Limb ataxia, Ataxia, Vertigo, Impaired ... |
ORPHA:247245 |
| Pyruvate Carboxylase Deficiency |
|
Hyperalaninemia, Proximal renal tubular acidosis, Lactic acidosis, Increased serum lactate, Incre... |
OMIM:266150 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, EEG with focal spikes, ... |
ORPHA:255249 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Choreoathetosis, Ataxia, Lactic acidosis, Generalized dystonia, Dystonia, Je... |
OMIM:245348 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Increased serum lactate, Renal insufficiency, Myoglobinuria |
ORPHA:2364 |
| Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
EEG with generalized epileptiform discharges, EEG abnormality, Multifocal epileptiform discharges... |
ORPHA:488613 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Renal phosphate wasting, Increased susceptibility to fractures, Hyperphosphaturia, Osteopenia, Ne... |
OMIM:612286 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Increased blood urea nitrogen, Hyperlipid... |
OMIM:235400 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration, Mixed respir... |
OMIM:145600 |
| Deafness, Autosomal Dominant 77 |
|
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus |
OMIM:618915 |
| Campomelic Dysplasia |
|
Depressed nasal bridge, Low-set ears, Abnormality of the sense of smell, Hearing impairment, Hydr... |
ORPHA:140 |
| Distal Monosomy 10Q |
|
Vesicoureteral reflux, Enuresis, Prominent nose, Wide nasal bridge, Acute kidney injury, Cochlear... |
ORPHA:96148 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Urogenital sinus anomaly, Weight loss, Hyperkalemic metabolic acidosis, Elevated urinary epinephr... |
ORPHA:90794 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Sensorineural hearing impairment, Hyposmia, Hypoesthesia, Impaired proprioception, Pain insensiti... |
OMIM:616488 |
| Pearson Marrow-Pancreas Syndrome |
|
Hydrops fetalis, Small for gestational age, Hyperbilirubinemia, Lactic acidosis, Failure to thriv... |
OMIM:557000 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Vesicoureteral reflux, Hyperactivity, Conductive hearing impairment, Sensorineural hearing impair... |
OMIM:235510 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Urogenital sinus anomaly, Midshaft hypospadias, Abnormal ... |
ORPHA:168558 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Unilateral renal agenesis, Ataxia, Eunuchoid habitus, Anosmia, Micropenis |
OMIM:308750 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Increased serum lactate |
OMIM:617069 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased urinary 11-deoxycorticosterone level, Decreased circulating renin level, Hypokalemia, R... |
ORPHA:90795 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Increased serum lactate |
OMIM:300816 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Anosmia, Bifid nose, Micropenis, Hyposmia |
OMIM:614838 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Anosmia, Sensorineural hearing impairment |
OMIM:612370 |
| Ocular Motor Apraxia |
|
Nephronophthisis, Jerky head movements |
OMIM:257550 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Urogenital sinus anomaly, Midshaft hypospadias, Abnormal ... |
ORPHA:289548 |
| Combined Oxidative Phosphorylation Deficiency 48 |
|
Increased serum lactate, Lactic acidosis |
OMIM:619012 |
| 2P15P16.1 Microdeletion Syndrome |
|
Polyhydramnios, Multicystic kidney dysplasia, Wide nasal bridge, Optic atrophy, EEG abnormality, ... |
ORPHA:261349 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Sensorineural hearing impairment, Optic disc pallor, Absence of acoustic reflex, Hypoesthesia, In... |
OMIM:619737 |
| Late-Onset Familial Hypoaldosteronism |
|
Renal sodium wasting, Hyperkalemia, Increased circulating renin level, Failure to thrive, Hyponat... |
ORPHA:556037 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Sensorineural hearing impairment, Optic atrophy, Glycosuria, Truncal ataxia, Hyper... |
OMIM:220110 |
| Hyperchlorhidrosis, Isolated |
|
Failure to thrive, Hypernatremic dehydration, Hyperkalemia, Hyponatremia |
OMIM:143860 |
| 8Q21.11 Microdeletion Syndrome |
|
Underdeveloped nasal alae, Wide nose, Hypoplasia of penis, Low-set ears, Abnormality of the sense... |
ORPHA:284160 |
| Diabetic Embryopathy |
|
Microtia, Renal hypoplasia/aplasia, Micropenis, Ureteral duplication, Low-set, posteriorly rotate... |
ORPHA:1926 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Polyhydramnios, Elevated 8(9)-cholestenol, Failure to thrive, Edema, Concave nasal ridge, Elevate... |
OMIM:302960 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Focal dystonia, Tremor, Dysphagia, Jerky head movements |
ORPHA:240103 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Increased serum lactate, Elevated lactate:pyruvate ratio, Lactic acidosis |
OMIM:612016 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
| Hydroxykynureninuria |
|
Renal tubular acidosis, Abnormal repetitive mannerisms, Congenital sensorineural hearing impairme... |
ORPHA:79155 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Chorea, Multifocal epileptiform discharges, Ataxia, Lactic acidosis, Increased serum lactate, Fai... |
ORPHA:70472 |
| Dilated Cardiomyopathy With Ataxia |
|
3-Methylglutaconic aciduria, Optic atrophy, Bilateral sensorineural hearing impairment, Repetitiv... |
ORPHA:66634 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hyposmia, Unilateral renal agenesis, Eunuchoid habitus, Ataxia, Anosmia, Micropenis |
OMIM:308700 |
| Paganini-Miozzo Syndrome |
|
Urinary incontinence, Hyperalaninemia, Microtia, Increased serum lactate, Elevated lactate:pyruva... |
OMIM:301025 |
| Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Gait ataxia, Elevated circulating acylcarnitine concentration, Sensorineural hearing impairment, ... |
OMIM:616878 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Increased urinary 11-deoxycorticosterone level, Decreased circulating renin level, Hypokalemia, F... |
ORPHA:90793 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Polyhydramnios, Hyperalaninemia, Sensorineural hearing impairment, Small for gestational age, Lim... |
OMIM:619847 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Polyhydramnios, Hyperglycinemia, Optic atrophy, Lactic acidosis, Elevated lactate:pyruvate ratio,... |
OMIM:615330 |
| Leber Congenital Amaurosis 10 |
|
Hyposmia |
OMIM:611755 |
| Williams Syndrome |
|
Abnormal circulating lipid concentration, Wide nasal bridge, Abnormality of the bladder, Elevated... |
ORPHA:904 |
| Trisomy 1Q |
|
Wide nose, Polyhydramnios, Multicystic kidney dysplasia, Congenital megaureter, Hydrops fetalis, ... |
ORPHA:261344 |
| Williams-Beuren Syndrome |
|
Obsessive-compulsive trait, Vesicoureteral reflux, Recurrent otitis media, Short nose, Urethral s... |
OMIM:194050 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Hypophosphatemic rickets |
OMIM:614473 |
| Tetraploidy |
|
Renal hypoplasia/aplasia, Convex nasal ridge, Hypoplasia of the ear cartilage, Hydronephrosis |
ORPHA:3305 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Sensorineural hearing impairment, Nephrotic syndrome, Ataxia, Glomerular sclerosis, Lactic acidos... |
OMIM:607426 |
| Hypouricemia, Renal, 1 |
|
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... |
OMIM:220150 |
| Chromosome Xq21 Deletion Syndrome |
|
Incomplete partition of the cochlea, Conductive hearing impairment, Progressive sensorineural hea... |
OMIM:303110 |
| Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary aminoisobutyric acid, Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric ... |
OMIM:614105 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Optic atrophy, Bulimia, Increased serum lactate, Elevated lactate:pyruvate ratio, Overweight, Obe... |
OMIM:614651 |
| Holoprosencephaly |
|
Abnormal antihelix morphology, Absent nares, Aplasia/Hypoplasia involving the nose, Macrotia, Cho... |
ORPHA:2162 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased serum lactate, Hyperglycinemia, Lacticaciduria |
OMIM:619063 |
| Tarp Syndrome |
|
Wide nasal bridge, Microtia, Optic atrophy, Prominent antihelix, Failure to thrive, Horseshoe kid... |
OMIM:311900 |
| Pendred Syndrome |
|
Cochlear malformation, Increased circulating thyroglobulin level, Abnormal vestibular function, C... |
OMIM:274600 |
| Generalized Arterial Calcification Of Infancy |
|
Polyhydramnios, Stapes ankylosis, Conductive hearing impairment, Sensorineural hearing impairment... |
ORPHA:51608 |
| Combined Oxidative Phosphorylation Deficiency 1 |
|
Increased serum lactate, Elevated lactate:pyruvate ratio, Metabolic acidosis |
OMIM:609060 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Low-set ears, Bulbous nose, Hypokalemia |
OMIM:170390 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Metabolic acidosis |
OMIM:618224 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hemolytic-uremic syndrome, Methylmalonic aciduria, Macrotia, Cystathioninemia, Cystathioninuria, ... |
OMIM:277400 |
| Marburg Hemorrhagic Fever |
|
Hypokalemia, Elevated circulating creatine kinase concentration, Lactic acidosis, Hyperammonemia,... |
ORPHA:99826 |
| Brain-Lung-Thyroid Syndrome |
|
Chorea, Vesicoureteral reflux, Hyperactivity, Sensorineural hearing impairment, Abnormal drinking... |
ORPHA:209905 |
| Dend Syndrome |
|
Hypsarrhythmia, Thickened ears, Short nose, Elevated hemoglobin A1c, Anteverted nares, Dehydration |
ORPHA:79134 |
| Distal Tetrasomy 15Q |
|
Nephroblastoma, Hydronephrosis, Sensorineural hearing impairment, Microtia, Abnormality of the ki... |
ORPHA:314588 |
| Zellweger Syndrome |
|
Multicystic kidney dysplasia, Sensorineural hearing impairment, Wide nasal bridge, Optic atrophy,... |
ORPHA:912 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Hemolytic-uremic syndrome, Conductive hearing impairment, Renal insufficiency, Wide nasal bridge,... |
OMIM:611209 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect... |
ORPHA:976 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hyperuricemia, EEG abnormality, Decreased plasma carnitine, Increased level of 3-hydroxy-3-methyl... |
OMIM:246450 |
| Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Increased serum lactate, Lactic acidosis |
OMIM:618236 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypsarrhythmia, Multifocal epileptiform discharges, Abnormal repetitive mannerisms, Large earlobe... |
ORPHA:411986 |
| Kury-Isidor Syndrome |
|
Recurrent otitis media, Attention deficit hyperactivity disorder, Anteverted nares, Low-set ears,... |
OMIM:619762 |
| Hypophosphatemic Rickets |
|
Renal phosphate wasting, Hyperphosphaturia, Hypophosphatemia, Failure to thrive, Hypocalciuria, H... |
ORPHA:437 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal tubular acidosis, Renal dysplasia, Lactic acidosis, Renal cyst, Increased serum lactate, Re... |
OMIM:614922 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Renal duplication, Wide nasal bridge, Nephrocalcinosis, Short nose, Depressed nasal bridge, Antev... |
OMIM:268310 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Hydronephrosis, Sensorineural hearing impairment, Elevated circulating long chain ... |
OMIM:214100 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Polycystic kidney dysplasia, Decreased plasma c... |
ORPHA:26791 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Multicystic kidney dysplasia, Urinary retention, Recurrent urinary tract infections, Dysuria, Hyd... |
ORPHA:79404 |
| Liddle Syndrome 2 |
|
Decreased circulating renin level, Hypokalemia, Metabolic alkalosis |
OMIM:618114 |
| Leigh Syndrome |
|
Optic atrophy, Choreoathetosis, Lacticaciduria, Dysphagia, 3-Methylglutaconic aciduria, Hyperalan... |
ORPHA:506 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Increased serum lactate |
OMIM:617917 |
| Amelogenesis Imperfecta, Type Ig |
|
Impaired renal concentrating ability, Nephrocalcinosis, Polyuria, Enuresis, Renal insufficiency |
OMIM:204690 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Dehydration |
OMIM:251850 |
| Kleefstra Syndrome |
|
Vesicoureteral reflux, Thickened helices, Hypoplasia of penis, Abnormal repetitive mannerisms, Sh... |
ORPHA:261494 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Distal sensory impairme... |
OMIM:601455 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Ketoacidosis, Lactic acidosis, Metabolic acidosis |
OMIM:246900 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Increased serum lactate |
OMIM:615159 |
| Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Enlarged... |
ORPHA:90646 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Abnormal renal physiology, Glomerular sclerosis, Increased blood urea nitrogen, Orthostatic hypot... |
OMIM:223900 |
| Noonan Syndrome 4 |
|
Hydronephrosis, Polyhydramnios, Large for gestational age, Depressed nasal bridge, Low-set ears, ... |
OMIM:610733 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Optic atrophy, Choreoathetosis, Lactic acidosis, Increased serum lactate, Tremor, Horseshoe kidne... |
OMIM:617664 |
| Toxic Epidermal Necrolysis |
|
Weight loss, Dysuria, Dysphagia, Renal insufficiency, Abnormality of the urethra, Polydipsia |
ORPHA:537 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormal autonomic nervous... |
OMIM:609136 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Polyhydramnios, Wide nasal bridge, Lymphedema, Ascites, Hypoproteinemia, Low-set ears, Hypocalcem... |
OMIM:235255 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Sensorineural hearing impairment, Recurrent otitis media, Abnormal repetitive mannerisms, Hypospa... |
ORPHA:500159 |
| Adenosine Monophosphate Deaminase Deficiency |
|
Increased serum lactate |
ORPHA:45 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Chorea, Lingual dystonia, Increased serum lactate, Paroxysmal choreoathetosis, Motor tics |
OMIM:500003 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Hyperalaninemia, Optic atrophy, Ataxia, Lactic acidosis, Increased serum pyruvate, Dystonia, Meta... |
OMIM:245349 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Microtia, Increased serum lactate, Hyperammonemia, Recurrent upper respiratory tract infections, ... |
OMIM:620137 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Polyhydramnios, Hypercholesterolemia, Hearing impairment, Conjugated hyperbilirubinemia, Metaboli... |
OMIM:619534 |
| Shigellosis |
|
Hemolytic-uremic syndrome, Acute kidney injury, Abnormal blood ion concentration, Dehydration, Ur... |
ORPHA:810 |
| Hereditary Late-Onset Parkinson Disease |
|
Orthostatic hypotension due to autonomic dysfunction, Weight loss, Hyposmia, Resting tremor, Agit... |
ORPHA:411602 |
| Transketolase Deficiency |
|
Increased level of ribose in urine, Abnormal repetitive mannerisms, Compulsive behaviors, Renal c... |
ORPHA:488618 |
| Glutaric Acidemia Type 3 |
|
Ketonuria, Abnormality of circulating enzyme level, Failure to thrive, Impulsivity, Ketoacidosis,... |
ORPHA:35706 |
| Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia,... |
OMIM:300614 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Sensorineural hearing impairment, EEG with generalized epileptiform discharges, Neurogenic bladde... |
OMIM:616973 |
| Hydrolethalus |
|
Low-set, posteriorly rotated ears, Low-set ears, Abnormality of the sense of smell, Polyhydramnios |
ORPHA:2189 |
| Endove Syndrome, Limb-Brain Type |
|
Osteomyelitis, Recurrent urinary tract infections, Neurogenic bladder, Joint laxity, Hydronephrosis |
OMIM:619218 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Choreoathetosis, Ataxia, Elevated circulating creatine kinase concentration, Increased serum lact... |
OMIM:618416 |
| Toluene Embryopathy |
|
Short nose, Abnormal localization of kidney, Low-set ears, Protruding ear, Hydronephrosis |
ORPHA:1920 |
| Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of the sense of smell, Renal hypoplasia/aplasia, O... |
ORPHA:958 |
| Axial Mesodermal Dysplasia Spectrum |
|
Microtia, Renal hypoplasia/aplasia, Oligohydramnios, Renal cyst, Abnormality of the ureter, Abnor... |
ORPHA:1834 |
| Hepatocellular Carcinoma |
|
Pedal edema, Weight loss, Hypokalemia, Hyperbilirubinemia, Hypercalcemia, Hyponatremia, Anasarca,... |
ORPHA:88673 |
| Mesomelia-Synostoses Syndrome |
|
Bulbous nose, Convex nasal ridge, Hearing impairment, Hydronephrosis |
ORPHA:2496 |
| Koolen-De Vries Syndrome |
|
Underdeveloped nasal alae, Vesicoureteral reflux, Renal duplication, Wide nasal bridge, Thick nas... |
ORPHA:96169 |
| Kufor-Rakeb Syndrome |
|
Hyposmia, Torticollis, Distal sensory impairment, Ataxia, Tremor, Anosmia, Dysphagia, Dystonia |
OMIM:606693 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Head tremor, Intention tremor, Hyposmia |
OMIM:613724 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Lactic acidosis |
OMIM:614111 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Unilateral renal agenesis, Abnormal repetitive mannerisms, Broad nasal tip, Low-se... |
ORPHA:3306 |
| Epilepsy, Early-Onset, Vitamin B6-Dependent |
|
Increased serum lactate, Metabolic acidosis |
OMIM:617290 |
| Harlequin Ichthyosis |
|
Hearing abnormality, Depressed nasal ridge, Dehydration |
ORPHA:457 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Decreased plasma carnitine, Lactic acidosis, Increased serum lactate, Failure to thrive, Elevated... |
OMIM:500009 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, 3-Methylglutaconic aciduria, Flexion contracture, Camptodactyly, Lacticaciduria, I... |
OMIM:604273 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
3-Methylglutaconic aciduria, Lactic acidosis, Ketoacidosis, Ankle flexion contracture, Elevated s... |
OMIM:618120 |
| Trisomy 17P |
|
Wide nose, Prominent nose, Polycystic kidney dysplasia, Hypoplasia of penis, Thick nasal alae, Ur... |
ORPHA:261290 |
| 48,Xxyy Syndrome |
|
Hypoplasia of penis, Abnormal repetitive mannerisms, Ataxia, Tremor, Attention deficit hyperactiv... |
ORPHA:10 |
| Perrault Syndrome 5 |
|
Positive Romberg sign, Ataxia, Increased serum lactate, Elevated circulating creatine kinase conc... |
OMIM:616138 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Vesicoureteral reflux, Hyposmia, Oligohydramnios, Pelvic kidney, Micropenis, Low-set ears, Obesit... |
OMIM:618653 |
| Combined Oxidative Phosphorylation Defect Type 13 |
|
Sensorineural hearing impairment, Limb dystonia, Choreoathetosis, Increased serum lactate, Failur... |
ORPHA:319514 |
| Congenital Short Bowel Syndrome |
|
Dehydration, Failure to thrive, Metabolic acidosis |
OMIM:615237 |
| Charge Syndrome |
|
Polyhydramnios, Optic atrophy, Abnormal cranial nerve morphology, Hearing impairment, Facial pals... |
ORPHA:138 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Macrotia, Pain insensitivity, Slender build, Uplifted earlobe, Micropenis, Hydronephrosis |
ORPHA:364028 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Chorea, Macrotia, Decreased body weight, Wide nasal bridge, Repetitive compulsive behavior, Ataxi... |
OMIM:300260 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Failure to thrive, Hyperkalemia, Renal salt wasting, Hyponatremia |
OMIM:614736 |
| Hemorrhagic Fever-Renal Syndrome |
|
Tubulointerstitial nephritis, Hyperphosphatemia, Anuria, Decreased body weight, Acute tubulointer... |
ORPHA:340 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Conductive hearing impairment, Sensorineural hearing impairment, Ch... |
ORPHA:261197 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Macrotia, Abnormal repetitive mannerisms, Tremor, Overweight, Micropenis |
ORPHA:457240 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Chorea, Multifocal epileptiform discharges, Increased serum lactate, Failure to thrive, Hyperammo... |
OMIM:616672 |
| Ritscher-Schinzel Syndrome 1 |
|
Low-set ears, Hypospadias, Depressed nasal bridge, Hydronephrosis |
OMIM:220210 |
| New-Onset Refractory Status Epilepticus |
|
EEG with frontal epileptiform discharges, EEG with generalized epileptiform discharges, Abnormal ... |
ORPHA:363558 |
| Leukodystrophy, Hypomyelinating, 4 |
|
Increased serum lactate, Choreoathetosis, Head titubation, Ethylmalonic aciduria |
OMIM:612233 |
| Acrocraniofacial Dysostosis |
|
Wide nose, Conductive hearing impairment, Sensorineural hearing impairment, Abnormal auditory evo... |
OMIM:201050 |
| Foxg1 Syndrome |
|
Decreased body weight, Stereotypical hand wringing, Choreoathetosis, Abnormal repetitive manneris... |
ORPHA:561854 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... |
OMIM:601596 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated creatine kinase after exercise |
ORPHA:57 |
| Takenouchi-Kosaki Syndrome |
|
Sensorineural hearing impairment, Wide nasal bridge, Optic atrophy, Lymphedema, Unilateral renal ... |
OMIM:616737 |
| Gracile Syndrome |
|
Decreased transferrin saturation, Lactic acidosis, Increased circulating ferritin concentration, ... |
ORPHA:53693 |
| Fanconi Anemia, Complementation Group O |
|
Stage 5 chronic kidney disease, Neonatal death, Renal cyst, Hydronephrosis |
OMIM:613390 |
| Zttk Syndrome |
|
Wide nasal bridge, Optic atrophy, Unilateral renal agenesis, Short nose, Failure to thrive, Depre... |
OMIM:617140 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Choanal atresia |
ORPHA:1135 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Underdeveloped nasal alae, Vesicoureteral reflux, Wide nasal bridge, Abnormal autonomic nervous s... |
ORPHA:453499 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Optic atrophy, Ataxia, Lactic acidosis, Increased serum lactate, Failure to thrive, Dysphagia, Dy... |
OMIM:618226 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Wide nasal bridge, EEG with polyspike wave complexes, Aganglionic megacolon, Ataxia, Oligohydramn... |
ORPHA:247262 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased serum lactate |
ORPHA:238329 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Oligohydramnios, Increased serum lactate, Lactic acidosis, Dysmetria, Tremor, Methylmalonic aciduria |
OMIM:615578 |
| Leigh Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Ataxia, Lactic acidosis, Increased serum lactate... |
OMIM:256000 |
| Branchio-Oculo-Facial Syndrome |
|
Conductive hearing impairment, Multicystic kidney dysplasia, Wide nasal bridge, Renal agenesis, B... |
ORPHA:1297 |
| Enteric Anendocrinosis |
|
Hyperchloremic metabolic acidosis, Dehydration |
ORPHA:83620 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Sensorineural hearing impairment, Oligohydramnios, Duplicated collecting system, Decreased serum ... |
ORPHA:541423 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Increased serum lactate, Dystonia, Hearing impairment |
OMIM:616277 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac... |
OMIM:615160 |
| 7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Abnormal optic disc morphology, Unilateral renal agenesis, Abnormal repetitive man... |
ORPHA:96121 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated circulating acylcarnitine concentration, Sensorineural hearing impairment, Optic atrophy... |
ORPHA:480864 |
| Addison Disease |
|
Hyperuricemia, Weight loss, Hyperkalemic metabolic acidosis, Hyperkalemia, Renal salt wasting, In... |
ORPHA:85138 |
| Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hyperchloremic metabolic acidosis, Hyp... |
OMIM:618913 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Increased serum lactate, Ketonuria, Renal hypoplasia, Metabolic acidosis |
OMIM:619053 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity, Hydronephrosis |
OMIM:620141 |
| Atresia Of Urethra |
|
Vesicoureteral reflux, Renal dysplasia, Bladder fistula, Hydroureter, Recurrent urinary tract inf... |
ORPHA:105 |
| Ogden Syndrome |
|
Underdeveloped nasal alae, Macrotia, Enlarged naris, Abnormal head movements, Torticollis, Short ... |
ORPHA:276432 |
| Al-Gazali Syndrome |
|
Wrist flexion contracture, Hydronephrosis, Recurrent fractures, Osteopenia, Proximal radio-ulnar ... |
OMIM:609465 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased serum lactate, Metabolic acidosis |
OMIM:618528 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Hydronephrosis, Macrotia, Prominent nasolabial fold, Short nose, External ear malformation, Dyses... |
ORPHA:2953 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Optic atrophy, Elevated circulating creatine kinase concentration, Increased serum lactate, Metab... |
OMIM:616239 |
| Adult Krabbe Disease |
|
Urinary incontinence, Somatic sensory dysfunction, EEG abnormality, Impaired tactile sensation, A... |
ORPHA:206448 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Neuromuscular dysphagia, EEG with persistent abnormal rhythmic activity, Impaired tactile sensati... |
ORPHA:206443 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Polyhydramnios, Ascites, Hypoproteinemia, Broad nasal tip, Low-set ears, Hypocalcemia, Abnormal r... |
ORPHA:1655 |
| Alternating Hemiplegia Of Childhood |
|
Chorea, EEG abnormality, Abnormal autonomic nervous system physiology, Choreoathetosis, Ataxia, F... |
ORPHA:2131 |
| Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Increased serum lactate, Lactic acidosis |
OMIM:618239 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Hyperuricemia, Stage 5 chronic kidney diseas... |
OMIM:174000 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Polyhydramnios, Renal duplication, Aplasia of the bladder, Renal dysplasia, Microtia, Glomerular ... |
ORPHA:158684 |
| Mosaic Trisomy 8 |
|
Abnormal antihelix morphology, Vesicoureteral reflux, Wide nose, Macrotia, Broad nasal tip, Abnor... |
ORPHA:96061 |
| 2Q37 Microdeletion Syndrome |
|
Nephroblastoma, Underdeveloped nasal alae, Multicystic kidney dysplasia, Conductive hearing impai... |
ORPHA:1001 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Wide nose, Sensorineural hearing impairment, Neurogenic bladder, Short nose, Elevated circulating... |
OMIM:608779 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Macrotia, Conductive hearing impairment, Renal tubular acidosis, Metabolic acidosis, Optic atroph... |
ORPHA:2785 |
| Acute Monoblastic/Monocytic Leukemia |
|
Oliguria, Progressive hearing impairment, Weight loss, Periorbital edema |
ORPHA:514 |
| Immunodeficiency 87 And Autoimmunity |
|
Small for gestational age, Hypokalemia, Oligohydramnios, Pleural effusion, Elevated circulating C... |
OMIM:619573 |
| Raine Syndrome |
|
Choanal stenosis, Hydroureter, Hypophosphatemia, Choanal atresia, Short nose, Depressed nasal bri... |
OMIM:259775 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Acute kidney injury, Hemoglobinuria, Glycosuria, Unconjugated hyperbil... |
ORPHA:447 |
| Lassa Fever |
|
Oliguria, Facial edema, Hearing impairment, Dysphagia |
ORPHA:99824 |
| Abcd Syndrome |
|
Total intestinal aganglionosis, Abnormal auditory evoked potentials, Aganglionic megacolon, Large... |
OMIM:600501 |
| Zaki Syndrome |
|
Wide nose, Wide nasal bridge, Renal agenesis, Anteverted nares, Cupped ear, Hydronephrosis |
OMIM:619648 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Tremor, Ataxia, Hydronephrosis |
OMIM:618060 |
| Pfeiffer Syndrome Type 3 |
|
Vesicoureteral reflux, Choanal atresia, Short nose, Depressed nasal bridge, Horseshoe kidney, Low... |
ORPHA:93260 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Anosmia, Micropenis |
OMIM:614880 |
| Micro Syndrome |
|
Macrotia, Wide nasal bridge, Optic atrophy, Hypoplasia of penis, Short nose, Abnormal localizatio... |
ORPHA:2510 |
| Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1 |
|
Hyperalaninemia, Optic atrophy, Lactic acidosis, Increased serum lactate, Failure to thrive, Athe... |
OMIM:614388 |
| Waardenburg Syndrome, Type 2E |
|
Sensorineural hearing impairment, Aplasia of the semicircular canal, Hypoplasia of the semicircul... |
OMIM:611584 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Hyperalaninemia, EEG abnormality, Lactic acidosis, Increased serum lactate, Increased serum pyruv... |
OMIM:617668 |
| Trisomy 10P |
|
Macrotia, Low voltage EEG, Small for gestational age, Abnormal auditory evoked potentials, Abnorm... |
ORPHA:171929 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Increased serum lactate, Elevated lactate:pyruvate ratio, Flexion contracture, Stress/infection-i... |
OMIM:252011 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, Oculogyric crisis, Increased serum lactate, Tremor, Dystonia |
ORPHA:330050 |
| Mitochondrial Dna Depletion Syndrome 17 |
|
Chorea, Hyperammonemia, Acidosis, Low plasma citrulline |
OMIM:618567 |
| Carpenter Syndrome 1 |
|
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Hydroureter, Depr... |
OMIM:201000 |
| Cardiofaciocutaneous Syndrome 1 |
|
Optic nerve dysplasia, Polyhydramnios, Large earlobe, Short nose, Failure to thrive, Depressed na... |
OMIM:115150 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Aminoaciduria, EEG abnormality, Lactic acidosis, Increased serum lactate, Elevated hepatic iron c... |
OMIM:614946 |
| Floating-Harbor Syndrome |
|
Underdeveloped nasal alae, Conductive hearing impairment, Prominent nose, Congenital posterior ur... |
OMIM:136140 |
| Shwachman-Diamond Syndrome 1 |
|
Small for gestational age, Failure to thrive, Nephrocalcinosis |
OMIM:260400 |
| Lethal Congenital Contracture Syndrome 2 |
|
Arthrogryposis multiplex congenita, Hydronephrosis |
OMIM:607598 |
| Pyridoxal Phosphate-Responsive Seizures |
|
Abnormal circulating threonine concentration, EEG with burst suppression, Abnormal circulating ar... |
ORPHA:79096 |
| Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Episodic ketoacidosis, Ketonuria |
OMIM:245050 |
| Gorham-Stout Disease |
|
Torticollis, Abnormality of the internal auditory canal, Pleural effusion, Edema, Hearing impairment |
ORPHA:73 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Optic atrophy, Dystonia, Broad nasal tip, Low-set, posteriorly rotated ears, Prominent nasal brid... |
ORPHA:457193 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hyperalaninemia, Acute hyperammonemia, Abnormal repetitive mannerisms, Agitation, Ataxia, Failure... |
ORPHA:927 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Polyhydramnios, Small for gestational age, Unilateral renal agenesis, Abnormal repetitive manneri... |
ORPHA:464311 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Optic atrophy, Glycosuria, Hyperphosphaturia, Ataxia, Lactic acidosis, Failure to ... |
ORPHA:436271 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Bulbous nose, Dystonia, Overweight, Abnormal repetitive mannerisms |
ORPHA:280763 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Urinary incontinence, Polyhydramnios, Macrotia, Optic atrophy, Neurogenic bladder, Abnormal repet... |
ORPHA:496641 |
| Monosomy 22Q13.3 |
|
Vesicoureteral reflux, Hyperactivity, Macrotia, Wide nasal bridge, Renal dysplasia, Lymphedema, B... |
ORPHA:48652 |
| Doors Syndrome |
|
Atresia of the external auditory canal, Polyhydramnios, Wide nasal bridge, EEG abnormality, Incre... |
ORPHA:79500 |
| Leigh Syndrome With Cardiomyopathy |
|
Chorea, Renal tubular acidosis, Optic atrophy, Renal dysplasia, Abnormal renal tubule morphology,... |
ORPHA:70474 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Hyperleucinemia, Ketonuria, Decreased plasma carnitine, Acute hyperammonemia, Organic aciduria, F... |
OMIM:210210 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Total anosmia, Sensorineural hearing impairment, Renal agenesis, Partial anosmia, Micropenis |
ORPHA:2326 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Progressive gait ataxia, Truncal ataxia, Limb ataxia, Abnormal circulati... |
ORPHA:247815 |
| Trisomy 20P |
|
Abnormal antihelix morphology, Macrotia, Abnormality of the kidney, Abnormal autonomic nervous sy... |
ORPHA:261318 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Underdeveloped nasal alae, Urinary incontinence, Hyperactivity, Macrotia, Stereotypical hand wrin... |
OMIM:300912 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Low-set ears, Hydronephrosis |
OMIM:300048 |
| Rett Syndrome |
|
EEG abnormality, Stereotypical hand wringing, Abnormal autonomic nervous system physiology, Abnor... |
ORPHA:778 |
| 4Q21 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Depressed nasal bridge, Tremor, Low-set ears, Hearing impairment |
ORPHA:238750 |
| Familial Mediterranean Fever |
|
Pedal edema, Nephrotic syndrome, Ascites, Nephropathy, Nephrocalcinosis, Proteinuria |
ORPHA:342 |
| Duane-Radial Ray Syndrome |
|
Vesicoureteral reflux, Abnormal nasopharynx morphology, Choanal stenosis, Sensorineural hearing i... |
OMIM:607323 |
| Koolen-De Vries Syndrome |
|
Vesicoureteral reflux, Hyperactivity, Macrotia, Recurrent urinary tract infections, Small for ges... |
OMIM:610443 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Prominent tragus, Prominent superior crus of antihelix, Congenital megaureter, Microtia, Unilater... |
ORPHA:280633 |
| Autosomal Recessive Spastic Paraplegia Type 20 |
|
Abnormal nostril morphology, Prominent nose, Dysuria, Impaired vibratory sensation, Dysphagia, Lo... |
ORPHA:101000 |
| Baller-Gerold Syndrome |
|
Vesicoureteral reflux, Conductive hearing impairment, Prominent nasal bridge, Short nose, Abnorma... |
ORPHA:1225 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Increased serum lactate, Lactic acidosis |
ORPHA:255182 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Hypokalemia, Metabolic alkalosis, Increased urinary cortisol level |
ORPHA:786 |
| Enamel-Renal Syndrome |
|
Impaired renal concentrating ability, Nephrocalcinosis, Hypophosphaturia, Nephropathy, Hypocalciu... |
ORPHA:1031 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Metabolic acidosis, Lactic acidosis |
OMIM:610773 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Macrotia, Narrow nasal tip, Small for gestational age, Unilateral renal agenesis, ... |
ORPHA:464306 |
| Pontocerebellar Hypoplasia, Type 9 |
|
Optic atrophy, Increased serum lactate, Abnormal pinna morphology, Dysphagia, Dystonia |
OMIM:615809 |
| Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Renal cortical cysts, Enlarged kidney, Posterior helix pit... |
OMIM:130650 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Absent nares, Polyhydramnios, Aplasia/Hypoplasia involving the nose, Narrow internal auditory can... |
ORPHA:990 |
| 3C Syndrome |
|
Wide nasal bridge, Optic atrophy, Hypoplasia of penis, Short nose, Hypospadias, Depressed nasal b... |
ORPHA:7 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Ataxia, Depressed nasal br... |
OMIM:619260 |
| Leber Optic Atrophy And Dystonia |
|
Optic atrophy, Increased serum lactate, Dysphagia, Athetosis, Dystonia |
OMIM:500001 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Anosmia, Abnormal nostril morphology, Hypoplasia of penis, Short nose |
ORPHA:1295 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Wide nasal bridge, Stereotypical hand wringing, Short nose, Failure to thrive, Prominent nasal br... |
OMIM:619179 |
| Arthrogryposis, Distal, Type 2A |
|
Underdeveloped nasal alae, Polyhydramnios, Wide nasal bridge, Small for gestational age, Abnormal... |
OMIM:193700 |
| Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Truncal ataxia, Hypsarrhythmia, Increased serum lactate, Failure to thrive, Head titubation, Dyst... |
ORPHA:88639 |
| Childhood Absence Epilepsy |
|
Urinary incontinence, Punding, EEG with spike-wave complexes (2.5-3.5 Hz), Attention deficit hype... |
ORPHA:64280 |
| Microphthalmia, Lenz Type |
|
Renal hypoplasia/aplasia, Hydroureter, External ear malformation, Hypospadias, Low-set, posterior... |
ORPHA:568 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Optic atrophy, Ataxia, Failure to thrive, Prolonged brainstem audit... |
OMIM:616881 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased serum lactate, Sensorineural hearing impairment, Increased serum pyruvate, Ataxia |
ORPHA:1349 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Sensorineural hearing impairment, Depressed nasal bridge, Abnormal pinna morphology, Low-set ears... |
ORPHA:35173 |
| Genitopatellar Syndrome |
|
Wide nose, Multicystic kidney dysplasia, Prominent nose, Low-set ears, Prominent nasal bridge, He... |
ORPHA:85201 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia, Lactic acidosis |
OMIM:154275 |
| Nelson Syndrome |
|
Hypokalemia, Optic nerve compression, Increased urinary cortisol level |
ORPHA:199244 |
| Congenital Disorder Of Deglycosylation 1 |
|
Chondroitin sulfate excretion in urine, Chorea, 3-Methylglutaconic aciduria, Hyperalaninemia, Dec... |
OMIM:615273 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... |
OMIM:600791 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia, Lactic acidosis |
OMIM:154276 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Prominent nose, Wide nasal bridge, Renal dysplasia, Choanal atresia, Depressed nasal bridge, Low-... |
OMIM:300968 |
| Czeizel-Losonci Syndrome |
|
Ureteral agenesis, Hypoplastic helices, Congenital megaureter, Prominent antitragus, Abnormality ... |
ORPHA:2437 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Enuresis nocturna, Hemidystonia, Recurrent hand flapping, Torticollis, Recurrent otitis media, De... |
OMIM:619680 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Pulmonary edema, Acute kidney injury, Decreased urine output, Hyperbilirubinemia, Pleural effusio... |
ORPHA:542323 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
3-Methylglutaconic aciduria, Hyperalaninemia, Sensorineural hearing impairment, Optic atrophy, La... |
OMIM:618329 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Polyhydramnios, Exaggerated startle response, Ataxia, Increased serum lactate, Low-set ears, Post... |
OMIM:618598 |
| Vacterl/Vater Association |
|
Polyhydramnios, Multicystic kidney dysplasia, Renal agenesis, Hypoplasia of penis, Ectopic kidney... |
ORPHA:887 |
| Gorlin Syndrome |
|
Abnormality of the sense of smell, Wide nasal bridge |
ORPHA:377 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Absent brainstem aud... |
ORPHA:1215 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Gait ataxia, Chorea, Hyperalaninemia, Sensorineural hearing impairment, Optic atrophy, Abnormal r... |
ORPHA:255210 |
| Glutaric Acidemia I |
|
Ketonuria, Choreoathetosis, Failure to thrive, Elevated circulating glutaric acid concentration, ... |
OMIM:231670 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Short nasal bridge, Optic atrophy, Repetitive compulsive behavior, Compulsive behaviors, Optic ne... |
ORPHA:401777 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Wide nose, Vesicoureteral reflux, Hypoplasia of the bladder, Crossed fused renal ectopia, Small f... |
OMIM:300707 |
| Distal Monosomy 12Q |
|
Vesicoureteral reflux, Bilateral conductive hearing impairment, Hyperactivity, Microtia, Polycyst... |
ORPHA:96149 |
| Vipoma |
|
Weight loss, Hypokalemia, Hypercalcemia, Dehydration, Ascites |
ORPHA:97282 |
| Granulomatosis With Polyangiitis |
|
Glomerulopathy, Sensorineural hearing impairment, Weight loss, Hematuria, Periorbital edema, Epis... |
ORPHA:900 |
| 46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydroureter, Ab... |
ORPHA:2973 |
| Malonyl-Coa Decarboxylase Deficiency |
|
Methylmalonic aciduria, Elevated urine suberic acid level, Lactic acidosis, Metabolic acidosis |
OMIM:248360 |
| Mitochondrial Dna Depletion Syndrome 19 |
|
Increased serum lactate, Hypospadias, Hearing impairment, Multifocal epileptiform discharges |
OMIM:618972 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hyperalaninemia, Stage 5 chronic kidney disease, Lactic acidosis, Lacticaciduria, Failure to thri... |
OMIM:618250 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Vesicoureteral reflux, Wide nasal bridge, Microphallus, Short nose, Renal cyst, Depressed nasal b... |
OMIM:618454 |
| Kabuki Syndrome |
|
Macrotia, Conductive hearing impairment, Sensorineural hearing impairment, Crossed fused renal ec... |
ORPHA:2322 |
| Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Hyperalaninemia, Optic atrophy, Truncal ataxia, Choreoathetosis, Increased serum lactate, Failure... |
OMIM:618249 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of penis, Ataxia, Abnormal repetitive mannerisms, Polyphagia |
ORPHA:228402 |
| Intellectual Disability, Buenos-Aires Type |
|
Macrotia, Wide nasal bridge, Hydronephrosis |
ORPHA:3079 |
| Lujo Hemorrhagic Fever |
|
Cerebral edema, Rhinitis, Resting tremor, Microscopic hematuria, Generalized edema, Periorbital e... |
ORPHA:319213 |
| Pseudoxanthoma Elasticum |
|
Nephrocalcinosis |
ORPHA:758 |
| Tsh-Secreting Pituitary Adenoma |
|
Weight loss, Pericardial effusion, Hypokalemia, Vertigo, Tremor |
ORPHA:91347 |
| Pseudohypoaldosteronism, Type Iia |
|
Hyperchloremic acidosis |
OMIM:145260 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Gait ataxia, Urinary incontinence, Abnormal repetitive mannerisms, Compulsive behaviors, Short no... |
ORPHA:476126 |
| Xq21 Microdeletion Syndrome |
|
Gait ataxia, Stapes ankylosis, Conductive hearing impairment, Sensorineural hearing impairment, D... |
ORPHA:1435 |
| Familial Glucocorticoid Deficiency |
|
Weight loss, Recurrent urinary tract infections, Hyperkalemia, Hypernatriuria, Renal salt wasting... |
ORPHA:361 |
| Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Hearing impairment, Hydronephrosis |
ORPHA:2484 |
| Mosaic Trisomy 9 |
|
Polyhydramnios, Hydrops fetalis, Renal dysplasia, Hypoplasia of penis, Oligohydramnios, Multiple ... |
ORPHA:99776 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Hypocalcemia, Progressive se... |
ORPHA:2237 |
| Prune Belly Syndrome |
|
Congenital posterior urethral valve, Hydroureter, Hydronephrosis |
OMIM:100100 |
| Gabriele-De Vries Syndrome |
|
Tremor, Ureteropelvic junction obstruction, Attention deficit hyperactivity disorder, Simple ear,... |
OMIM:617557 |
| Immunodeficiency 44 |
|
Increased serum lactate |
OMIM:616636 |
| Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M... |
OMIM:602588 |
| Au-Kline Syndrome |
|
Underdeveloped nasal alae, Vesicoureteral reflux, Sensorineural hearing impairment, Microtia, Chr... |
OMIM:616580 |
| Dihydropyrimidinase Deficiency |
|
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Elev... |
OMIM:222748 |
| Congenital Tufting Enteropathy |
|
Weight loss, Failure to thrive, Dehydration, Optic disc coloboma, Choanal atresia |
ORPHA:92050 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Increased circulating ferritin concentration, Head titubatio... |
ORPHA:3240 |
| 1Q21.1 Microdeletion Syndrome |
|
Vesicoureteral reflux, Sensorineural hearing impairment, Wide nasal bridge, Failure to thrive, At... |
ORPHA:250989 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Increased serum lactate, Metabolic acidosis |
OMIM:618225 |
| Systemic Capillary Leak Syndrome |
|
Pedal edema, Weight loss, Pulmonary edema, Abnormal renal tubule morphology, Pleural effusion, Ol... |
ORPHA:188 |
| Khan-Khan-Katsanis Syndrome |
|
Vesicoureteral reflux, Sensorineural hearing impairment, Short nose, Renal cyst, Failure to thriv... |
OMIM:618460 |
| Chromosome 17Q12 Deletion Syndrome |
|
Pica, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections... |
OMIM:614527 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Macrotia, Wide nasal bridge, Impulsivity, Attention deficit hyperactivity disorder, Anteverted na... |
ORPHA:96092 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Anosmia, Micropenis, Hyposmia |
OMIM:614897 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Decreased motor nerve conduction velocity, Increased serum lactate, Decreased sensory nerve condu... |
OMIM:619026 |
| Pallister-Hall Syndrome |
|
Hydronephrosis, Renal dysplasia, Microtia, Hydroureter, Choanal atresia, Short nose, Renal cyst, ... |
OMIM:146510 |
| Sarcoidosis |
|
Tubulointerstitial nephritis, Weight loss, Facial palsy, Pleural effusion, Hypercalcemia, Chyloth... |
ORPHA:797 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Increased serum lactate, Metabolic acidosis, Lactic acidosis |
OMIM:610678 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Progressive sensorineural hearing impairment, Ataxia |
ORPHA:3233 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment, Ataxia |
OMIM:271250 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Sensorineural hearing impairment, Microtia, Renal agenesis, Short nose, Hypospadias, Depressed na... |
OMIM:301040 |
| Ciliary Dyskinesia, Primary, 1 |
|
Conductive hearing impairment, Recurrent bronchitis, Nasal polyposis, Chronic rhinitis, Anosmia, ... |
OMIM:244400 |
| Cardiofaciocutaneous Syndrome |
|
Macrotia, Optic atrophy, EEG abnormality, Lymphedema, Short nose, Depressed nasal bridge, Antever... |
ORPHA:1340 |
| 15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Nephroblastoma, Wide nasal bridge, Abnormality of the outer ear, Horsesh... |
ORPHA:314585 |
| Marden-Walker Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia/aplasia, Abnormality of the kidne... |
ORPHA:2461 |
| Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Partial fusion of tarsals, Knee flexion contr... |
OMIM:305620 |
| Tarp Syndrome |
|
Abnormal antihelix morphology, Small earlobe, Wide nasal bridge, Optic atrophy, Prominent antihel... |
ORPHA:2886 |
| Crouzon Syndrome |
|
Convex nasal ridge, Conductive hearing impairment, Narrow internal auditory canal, Optic atrophy,... |
ORPHA:207 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Anteverted nares, Uplifted earlobe, Low-set ears, Hydronephrosis |
OMIM:616449 |
| White-Kernohan Syndrome |
|
Underdeveloped nasal alae, Macrotia, Hydroureter, Recurrent otitis media, Short nose, Depressed n... |
OMIM:619426 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Increased serum lactate, Lactic acidosis |
OMIM:613561 |
| Feingold Syndrome Type 1 |
|
Vesicoureteral reflux, Conductive hearing impairment, Sensorineural hearing impairment, Renal dys... |
ORPHA:391641 |
| 15q26 overgrowth syndrome |
|
Vesicoureteral reflux, Sensorineural hearing impairment, Prominent nose, Wide nasal bridge, Abnor... |
DECIPHER:81 |
| Leopard Syndrome 1 |
|
Sensorineural hearing impairment, Depressed nasal ridge, Hyposmia, Unilateral renal agenesis, Hyp... |
OMIM:151100 |
| Deafness, X-Linked 2 |
|
Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... |
OMIM:304400 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Anosmia, Micropenis |
OMIM:618841 |
| Hawkinsinuria |
|
4-hydroxyphenylacetic aciduria, Failure to thrive, Hypertyrosinemia, Hawkinsinuria, 4-Hydroxyphen... |
OMIM:140350 |
| Igg4-Related Aortitis |
|
Elevated circulating C-reactive protein concentration, Weight loss, Hydronephrosis |
ORPHA:449400 |
| Fryns Syndrome |
|
Vesicoureteral reflux, Polyhydramnios, Multicystic kidney dysplasia, Wide nasal bridge, Aganglion... |
ORPHA:2059 |
| Congenital Myopathy 17 |
|
Polyhydramnios, Ureteropelvic junction obstruction, Renal hypoplasia, Low-set ears, Failure to th... |
OMIM:618975 |
| Cockayne Syndrome B |
|
Slender nose, Sensorineural hearing impairment, Optic atrophy, Small for gestational age, Abnorma... |
OMIM:133540 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Ataxia, Elevated circulating creatine kinase concentration, Increased serum lactate, Positive Rom... |
OMIM:616479 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Hydronephrosis, Fetal megacystis, Megacystis |
OMIM:619362 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Ketonuria, Acute hyperammonemia, 3-hydroxyisovaleric aciduria, Failure to thrive, Elevated urinar... |
OMIM:210200 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Abnormality of the sense of smell, Micropenis |
OMIM:228300 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Cerebral edema, Decreased plasma carnitine, Dic... |
ORPHA:99901 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Gait ataxia, Impaired vibration sensation in the lower limbs, Optic atrophy, Mildly elevated crea... |
ORPHA:95433 |
| Lacrimoauriculodentodigital Syndrome |
|
Vesicoureteral reflux, Conductive hearing impairment, Sensorineural hearing impairment, Dysphagia... |
ORPHA:2363 |
| Meningioma |
|
Urinary incontinence, Papilledema, Ataxia, Tinnitus, Abnormality of the sense of smell, Obesity, ... |
ORPHA:2495 |
| Otopalatodigital Syndrome Type 2 |
|
Short nose, Failure to thrive, Hypospadias, Depressed nasal bridge, Abnormal pinna morphology, Lo... |
ORPHA:90652 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Urinary incontinence, Paroxysmal dystonia, Increased theta frequency activity in EEG, EEG with fo... |
ORPHA:98784 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Underdeveloped nasal alae, EEG with frontal sharp slow waves, Sensorineural hearing impairment, E... |
ORPHA:457351 |
| 8P11.2 Deletion Syndrome |
|
External ear malformation, Depressed nasal bridge, Hypoplasia of penis, Anosmia |
ORPHA:251066 |
| Malignant Hyperthermia Of Anesthesia |
|
Hyperphosphatemia, Acute kidney injury, Hyperkalemia, Elevated creatine kinase after exercise, My... |
ORPHA:423 |
| Young-Onset Parkinson Disease |
|
Hyposmia, Abnormal autonomic nervous system physiology, Agitation, Impulsivity, Tremor, Dystonia |
ORPHA:2828 |
| Moebius Syndrome |
|
Facial palsy, Abnormality of the sense of smell, Hearing impairment, Dysphagia |
ORPHA:570 |
| Alazami Syndrome |
|
Wide nose, Stereotypical hand wringing, Abnormal repetitive mannerisms, Abnormal eating behavior,... |
ORPHA:319671 |
| Schinzel-Giedion Syndrome |
|
Infantile sensorineural hearing impairment, Abnormality of the ureter, Dysphagia, Nephrolithiasis... |
ORPHA:798 |
| Teebi-Shaltout Syndrome |
|
Small earlobe, Underdeveloped nasal alae, Hypoplastic helices, Wide nasal bridge, Ureteral stenos... |
OMIM:272950 |
| Stromme Syndrome |
|
Wide nasal bridge, Optic nerve hypoplasia, Short columella, Bilateral renal hypoplasia, Stillbirt... |
OMIM:243605 |
| Amish Lethal Microcephaly |
|
Limitation of joint mobility, Organic aciduria, Decreased skull ossification, Osteoporosis, Metab... |
ORPHA:99742 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Tubulointerstitial nephritis, Aminoaciduria, EEG abnormality, Severe lactic acidosis, Lacticacidu... |
OMIM:124000 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Anosmia, Micropenis |
OMIM:614841 |
| Webb-Dattani Syndrome |
|
Hypernatremia, Vesicoureteral reflux, Neurogenic bladder, Hydronephrosis |
OMIM:615926 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating renin level, Hypokalemia, Long penis |
OMIM:202010 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hyperalaninemia, Truncal ataxia, Limb ataxia, Lactic acidosis, Increased serum lactate, Hyperammo... |
OMIM:619051 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Failure to thrive, Hypokalemia, Ataxia, Hyponatremia |
OMIM:618426 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Conductive hearing impairment, Aplasia of the nose, Choanal atresia, Absent tragus, Hypospadias, ... |
OMIM:603457 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Gait ataxia, 3-Methylglutaconic aciduria, Optic atrophy, Optic nerve hypoplasia, Increased serum ... |
ORPHA:496790 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Conductive hearing impairment, Wide nasal bridge, Large for gestational age, Duplicated collectin... |
OMIM:280000 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Neonatal hyperbilirubinemi... |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Neonatal hyperbilirubinemi... |
ORPHA:529808 |
| Megalocornea-Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Wide nasal bridge, EEG abnormality, Abnormal repetitive manneri... |
ORPHA:2479 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Sensorineural hearing impairment, Moderate albuminuria, Obesity, Prominent nasal bridge, Hydronep... |
OMIM:619269 |
| Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Frontalis muscle weakness, Anosmia, Wide nasal bridge |
OMIM:210745 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Anosmia, Micropenis |
OMIM:616030 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Sensorineural hearing impairment, Renal tubular acidosis, Head-banging, Recurrent otitis media, F... |
OMIM:619575 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Increased serum lactate |
OMIM:615918 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Gait ataxia, Impaired distal vibration sensation, Sensorineural hearing impairment, Weight loss, ... |
OMIM:607459 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Decreased plasma ... |
ORPHA:228308 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Hydronephrosis, Megacystis |
OMIM:619431 |
| Developmental And Epileptic Encephalopathy 82 |
|
Increased serum lactate, Hyperammonemia, Decreased body weight |
OMIM:618721 |
| Fumarase Deficiency |
|
Aminoaciduria, Optic atrophy, Hyperbilirubinemia, Lactic acidosis, Failure to thrive, Depressed n... |
OMIM:606812 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Increased serum lactate, Lactic acidosis |
OMIM:614654 |
| Sepsis In Premature Infants |
|
Decreased body weight, Small for gestational age, Edema, Reversible renal failure, Oliguria, Elev... |
ORPHA:90051 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Depressed nasal ridge, Optic atrophy, Recurrent urinary tract i... |
ORPHA:847 |
| Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Abnormal cranial nerve morphology, Anosmia |
ORPHA:2057 |
| Eec Syndrome |
|
Vesicoureteral reflux, Urethral atresia, Sensorineural hearing impairment, Renal hypoplasia/aplas... |
ORPHA:1896 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Metabolic acidosis, Lactic acidosis |
OMIM:616501 |
| Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Pedal edema, Renal interstitial immunoglobulin deposits, Abnormal ur... |
ORPHA:449395 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Anosmia, Micropenis |
OMIM:614837 |
| Orofaciodigital Syndrome Type 1 |
|
Underdeveloped nasal alae, Multicystic kidney dysplasia, Wide nasal bridge, Choanal atresia, Atax... |
ORPHA:2750 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Increased serum lactate |
OMIM:616276 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Hyperkalemia |
OMIM:609153 |
| Cat Eye Syndrome |
|
Vesicoureteral reflux, Renal agenesis, Horseshoe kidney, Low-set ears, Stenosis of the external a... |
OMIM:115470 |
| Mirage Syndrome |
|
Decreased body weight, Microphallus, Recurrent urinary tract infections, Hyperkalemia, Hypospadia... |
OMIM:617053 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, EEG with continuous slow activity, Disinhibition, Restlessness, C... |
ORPHA:275864 |
| Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Hyperbilirubinemia, Dicarboxylic aciduria, Lactic acidosis, Incre... |
OMIM:613070 |
| Cockayne Syndrome Type 3 |
|
Macrotia, Conductive hearing impairment, Adult onset sensorineural hearing impairment, Urinary re... |
ORPHA:90324 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Polyhydramnios, Enlarged kidney, Neonatal death, Hydronephrosis |
OMIM:314390 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Wide nose, Prominent nose, Wide nasal bridge, Hydroureter, Abnormality of the upper urinary tract... |
ORPHA:2995 |
| Familial Tumoral Calcinosis |
|
Nephrocalcinosis |
ORPHA:53715 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Decreased body weight, Hypsarrhythmia, Increased serum lactate, Failure to thrive, Prominent nasa... |
OMIM:619060 |
| Alg9-Cdg |
|
Underdeveloped nasal alae, Hypoplasia of the bladder, Convex nasal ridge, Hydrops fetalis, Perica... |
ORPHA:79328 |
| White-Sutton Syndrome |
|
Hyperactivity, Sensorineural hearing impairment, Optic atrophy, EEG abnormality, Abnormal repetit... |
ORPHA:468678 |
| Cockayne Syndrome A |
|
Slender nose, Sensorineural hearing impairment, Prominent nose, Optic atrophy, Abnormal auditory ... |
OMIM:216400 |
| Necrotizing Enterocolitis |
|
Small for gestational age, Acidosis, Increased serum lactate, Edema, Hyponatremia, Ascites, Metab... |
ORPHA:391673 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Wide nasal bridge, EEG abnormality, Optic atrophy, Interictal epileptiform activity, EEG with foc... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Wide nasal bridge, EEG abnormality, Optic atrophy, Interictal epileptiform activity, EEG with foc... |
ORPHA:363958 |
| Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Weight loss, Hyperkalemia, Vertigo, Failure to thrive, Hypercalcemia, Hyponatremia... |
ORPHA:199299 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Abnormality of the sense of smell |
ORPHA:3201 |
| Infantile Krabbe Disease |
|
Opisthotonus, Optic atrophy, Cachexia, Failure to thrive, Decreased nerve conduction velocity, Hy... |
ORPHA:206436 |
| 3P25.3 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Prominent nose, Abnormal repetitive mannerisms, Ataxia, Abnorma... |
ORPHA:435638 |
| Juvenile Polyposis Syndrome |
|
Failure to thrive, Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Unilateral renal agenesis, Elevated 8(9)-cholestenol, Depressed nasal bridge, Elevated 8-dehydroc... |
OMIM:308050 |
| Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Anosmia |
OMIM:274190 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Polyhydramnios, Wide nasal bridge, Increased serum lactate, Anteverted nares, Hypocholesterolemia... |
OMIM:618810 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Renal duplication, Renal dysplasia, Urethral stricture, Hematuria, Urinary bladder inflammation, ... |
ORPHA:79403 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Nephrotic range proteinuria, Anuria, Pleural empyema, Acute kidney injury, Decreased urine output... |
ORPHA:544482 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Aminoaciduria, Neonatal death, Small for gestational age, Lactic acidosis, Increased serum lactat... |
OMIM:619055 |
| Maple Syrup Urine Disease |
|
Cerebral edema, Ataxia, Lactic acidosis, Increased level of hippuric acid in urine, Elevated plas... |
OMIM:248600 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Increased serum lactate, Lactic acidosis |
OMIM:619059 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
| Charge Syndrome |
|
Polyhydramnios, Sensorineural hearing impairment, Microtia, Facial palsy, Aplasia of the semicirc... |
OMIM:214800 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Abnormal circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
OMIM:615838 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Underdeveloped nasal alae, Overhanging nasal tip, Microtia, Hyperbilirubinemia, Choanal atresia, ... |
ORPHA:163979 |
| Harel-Yoon Syndrome |
|
Optic atrophy, Ataxia, Short nose, Increased serum lactate, Dystonia |
OMIM:617183 |
| Goodpasture Syndrome |
|
Glomerular crescent formation, Weight loss, Cylindruria, Glomerulonephritis, Erythrocyte cylindru... |
OMIM:233450 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperphosphatemia, Acute kidney injury, Hyperkalemia, Ataxia, Elevated circulating creatine kinas... |
ORPHA:466650 |
| Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Gait ataxia, Resting tremor, Nocturia, Ataxia, Elevated circulating creatine kinase concentration... |
ORPHA:254892 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Hydronephrosis, Micropenis, EEG abnormality, Microtia |
OMIM:617798 |
| 9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Hydronephrosis |
ORPHA:531151 |
| Cardiogenic Shock |
|
Vertigo, Increased serum lactate, Oliguria, Elevated circulating creatinine concentration, Metabo... |
ORPHA:97292 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Macrotia, Prominent nose, Abnormal repetitive mannerisms |
ORPHA:391307 |
| Lissencephaly 7 With Cerebellar Hypoplasia |
|
Increased serum lactate, Arthrogryposis multiplex congenita |
OMIM:616342 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Wide nasal bridge, Ureteral triplication, Depressed nasal bridge, Low-set ears, Hydronephrosis |
OMIM:104350 |
| Thakker-Donnai Syndrome |
|
Macrotia, Anteverted nares, Bulbous nose, Posteriorly rotated ears, Hydronephrosis |
ORPHA:1780 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Hypocalcemic tetany, Abnormality of renal excretion, Sensorineural heari... |
ORPHA:289176 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Wide nasal bridge, Urethral stricture, Dysphagia, Posteriorly rotated ears, Short nose, Grade III... |
OMIM:619522 |
| Macrocephaly-Developmental Delay Syndrome |
|
Wide nasal bridge, Abnormal speech discrimination, Abnormal repetitive mannerisms, Palpebral edem... |
ORPHA:397612 |
| Pelvis-Shoulder Dysplasia |
|
Hydronephrosis, Abnormal pinna morphology, Microtia |
ORPHA:2839 |
| Apnea, Obstructive Sleep |
|
Anosmia |
OMIM:107650 |
| Microphthalmia, Syndromic 9 |
|
Wide nasal bridge, Renal malrotation, Pelvic kidney, Horseshoe kidney, Renal hypoplasia, Low-set ... |
OMIM:601186 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal antihelix morphology, Abnormal repetitive mannerisms, Short nose, Depressed nasal bridge... |
ORPHA:261144 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Increased serum lactate, Sensory ataxia, Progressive hearing impairment, Dysphagia |
OMIM:609286 |
| Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Abnormality of the middle ear, Narrow nas... |
ORPHA:2092 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
3-Methylglutaconic aciduria, Sensorineural hearing impairment, Methylmalonic acidemia, Choreoathe... |
ORPHA:17 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:617523 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Dicarboxylic acidur... |
ORPHA:159 |
| Craniofacioskeletal Syndrome |
|
Microtia, Choanal atresia, Hypospadias, Hypocalcemia, Posteriorly rotated ears, Hydronephrosis |
OMIM:300712 |
| Trisomy 18 |
|
Pointed helix, Abnormality of the upper urinary tract, Cachexia, Choanal atresia, Short nose, Oli... |
ORPHA:3380 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Vesicoureteral reflux, Abnormal nasopharynx morphology, Renal dysplasia, Microtia, Hydroureter, R... |
OMIM:604292 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sensorineural hearing impairment, Wide nasal bridge, Recurrent urinary tract infections, Urachus ... |
OMIM:612541 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Choanal stenosis, Hydroureter, Hypsarrhythmia, Short nose, Failu... |
OMIM:269150 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, EEG with generalized slow activity grade 4, EEG with series of focal spikes, Multi... |
ORPHA:168491 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Increased serum lactate, Elbow contracture |
OMIM:611523 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Anosmia |
OMIM:615270 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
3-Methylglutaconic aciduria, Optic atrophy, Ketonuria, Highly elevated creatine kinase, Lactic ac... |
OMIM:251900 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Titubation, Ataxia, Elevated circulating creatine kinase concentration, Increased serum lactate, ... |
OMIM:619405 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Vesicoureteral reflux, Hyperactivity, Conductive hearing impairment, Sensorineural hearing impair... |
ORPHA:353281 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Cerebral edema, Decreased plasma carnitine, Medium chain dicarboxylic aciduria, Hyperglycinuria, ... |
OMIM:201450 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Anosmia |
OMIM:614858 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
3-Methylglutaconic aciduria, Sensorineural hearing impairment, Increased serum lactate, Failure t... |
OMIM:617248 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Underdeveloped nasal alae, Vesicoureteral reflux, Conductive hearing impairment, Sensorineural he... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Underdeveloped nasal alae, Vesicoureteral reflux, Conductive hearing impairment, Sensorineural he... |
ORPHA:352665 |
| Branchiogenic Deafness Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os... |
ORPHA:50815 |
| Holocarboxylase Synthetase Deficiency |
|
3-hydroxyisovaleric aciduria, Lactic acidosis, Organic aciduria, Hyperammonemia, Elevated urinary... |
OMIM:253270 |
| Mogs-Cdg |
|
Wide nose, Polyhydramnios, Sensorineural hearing impairment, Optic atrophy, Pulmonary edema, Abse... |
ORPHA:79330 |
| Musk, Inability To Smell |
|
Anosmia |
OMIM:254150 |
| Cousin Syndrome |
|
Microtia, first degree, Low-set ears, Stenosis of the external auditory canal, Hearing impairment... |
OMIM:260660 |
| Smith-Lemli-Opitz Syndrome |
|
Wide nasal bridge, Hypocholesterolemia, Hearing impairment, Posteriorly rotated ears, Recurrent o... |
OMIM:270400 |
| Microsporidiosis |
|
Rhinitis, Weight loss, Abnormality of the urinary system physiology, Cachexia, Nephritis, Urethri... |
ORPHA:2552 |
| Cerebellar-Facial-Dental Syndrome |
|
Wide nasal bridge, Failure to thrive, Ureteropelvic junction obstruction, Anteverted nares, Low-s... |
ORPHA:444072 |
| Bilateral Generalized Polymicrogyria |
|
Oculogyric crisis, Dystonia, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia |
ORPHA:208447 |
| Anosmia For Isobutyric Acid |
|
Partial anosmia |
OMIM:207000 |
| Smith-Lemli-Opitz Syndrome |
|
Polyhydramnios, Multicystic kidney dysplasia, Sensorineural hearing impairment, Wide nasal bridge... |
ORPHA:818 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ataxia, Wide nasal bridge, Ketonuria, Small for gestational age, Pulmonary edema, Truncal ataxia,... |
OMIM:220111 |
| 1P36 Deletion Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Depressed nasal ridge, Wide nasa... |
ORPHA:1606 |
| Liver Disease, Severe Congenital |
|
Aminoaciduria, Cholesteatoma, Elevated circulating alpha-fetoprotein concentration, Hyponatremia,... |
OMIM:619991 |
| Opitz Gbbb Syndrome |
|
Vesicoureteral reflux, Wide nasal bridge, Hypospadias, Anteverted nares, Dysphagia, Abnormality o... |
ORPHA:2745 |
| Fryns Syndrome |
|
Polyhydramnios, Wide nasal bridge, Aganglionic megacolon, Abnormal helix morphology, Renal agenes... |
OMIM:229850 |
| Anosmia For Butyl Mercaptan |
|
Anosmia |
OMIM:270350 |
| Anosmia, Isolated Congenital, X-Linked |
|
Anosmia |
OMIM:301700 |
| Anosmia, Isolated Congenital |
|
Anosmia |
OMIM:107200 |
| Isovaleric Acid, Inability To Smell |
|
Anosmia |
OMIM:243450 |
| Penile Agenesis |
|
Absent penis, Bilateral renal agenesis, Urethral fistula, Hydroureter, Cystic renal dysplasia, Ab... |
ORPHA:49 |
| Lamb-Shaffer Syndrome |
|
Hyperactivity, Optic atrophy, Ataxia, Abnormal repetitive mannerisms, Broad nasal tip |
ORPHA:530983 |
| Isolated Complex I Deficiency |
|
Proximal tubulopathy, Sensorineural hearing impairment, Ataxia, Lactic acidosis, Failure to thriv... |
ORPHA:2609 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Dysphagia, Optic nerve hypoplasia, Abnormal repetitive mannerisms, Neurogenic bladder |
ORPHA:572013 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Sensorineural hearing impairment, Weight loss, Elevated circulating deoxyuridine concentration, A... |
OMIM:603041 |
| Vici Syndrome |
|
Wide nose, Penile hypospadias, Sensorineural hearing impairment, Acidosis, Elevated circulating c... |
OMIM:242840 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Renal cortical hyperechogenicity, Anuria, Sensorineural hearing impairment, Pyelonephritis, Oligo... |
OMIM:619351 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Increased serum lactate |
ORPHA:663 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Optic atrophy, Ataxia, Lactic acidosis, Increased serum lactate, Dysmetria, Tremor, Athetosis, Dy... |
OMIM:617710 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Wide nasal bridge, Optic atrophy, Lymphedema, Unilateral renal agenesis, Hypospadias, Flared nost... |
ORPHA:487796 |
| Amoebiasis Due To Free-Living Amoebae |
|
Cerebral edema, Hyposmia, Ataxia, Intrarenal abscess, Restlessness, Facial palsy |
ORPHA:68 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Increased serum lactate, Achilles tendon contracture, Severe lactic acidosis |
OMIM:615418 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperuricemia, Hyperalaninemia, Intermittent lactic acidemia, Lactic acidosis, Increased urinary ... |
ORPHA:348 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia |
OMIM:240200 |
| Childhood-Onset Spasticity With Hyperglycinemia |
|
Increased serum lactate, Ataxia, Nonketotic hyperglycinemia, Optic atrophy |
ORPHA:401866 |
| Multiple Endocrine Neoplasia Type 1 |
|
Cranial nerve compression, Weight loss, Hypercalcemia, Dehydration, Nephrolithiasis, Hypercalciuria |
ORPHA:652 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Decreased body weight, Wide nasal bridge, EEG abnormality, Repetitive compulsive behavior, Depres... |
OMIM:619475 |
| Bardet-Biedl Syndrome 12 |
|
Hydroureter, Cystic renal dysplasia, Hydronephrosis |
OMIM:615989 |
| Saethre-Chotzen Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, Narrow internal auditory canal, Sen... |
ORPHA:794 |
| Dubowitz Syndrome |
|
Abnormal antihelix morphology, Hypospadias, Depressed nasal bridge, Attention deficit hyperactivi... |
ORPHA:235 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Vesicoureteral reflux, Abnormal nasopharynx morphology, Conductive hearing impairment, Renal dysp... |
OMIM:129900 |
| Melas |
|
Proximal tubulopathy, Sensorineural hearing impairment, EEG abnormality, Optic atrophy, Ataxia, L... |
ORPHA:550 |
| Wiedemann-Steiner Syndrome |
|
Dilatation of renal calices, Hyperactivity, Wide nasal bridge, Abnormal repetitive mannerisms, Sh... |
ORPHA:319182 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Prominent nasal tip, Hypospadias, Anteverted nares, Male urethral meatus stenosis, Low-set ears, ... |
ORPHA:464738 |
| Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Proximal tubulopathy, Hyperuricemia, Glycosuria, Hyperphosphaturia, Hypo... |
OMIM:229600 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Wide nasal bridge, Microphallus, Optic disc pallor, Thin ear helix, Unilateral renal agenesis, Ab... |
ORPHA:468631 |
| Combined Oxidative Phosphorylation Deficiency 7 |
|
Optic atrophy, Ataxia, Increased serum lactate, Failure to thrive, Facial diplegia, Facial paraly... |
OMIM:613559 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Wide nasal bridge, Limb dystonia, Ataxia, Lactic acidosis, Increased serum lactate, Dysmetria, Tr... |
ORPHA:572798 |
| Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Increased serum lactate, Joint contracture, Lactic acidosis |
OMIM:614462 |
| Microscopic Polyangiitis |
|
Glomerulopathy, Paresthesia, Hematuria, Epistaxis, Oliguria, Renal insufficiency |
ORPHA:727 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Gait ataxia, Chorea, Cerebral edema, Hypsarrhythmia, Ataxia, Increased serum lactate, Bilateral s... |
OMIM:618321 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Increased serum lactate |
OMIM:619170 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Increased serum lactate, Hyperalaninemia, Failure to thrive in infancy, Hyperprolinemia |
OMIM:619064 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Sensorineural hearing impairment, Spastic ataxia, Abnormal autonomic nervous system physiology, T... |
ORPHA:300570 |
| Arboleda-Tham Syndrome |
|
Small earlobe, Upper eyelid edema, Optic atrophy, Recurrent urinary tract infections, Prominent a... |
OMIM:616268 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Optic disc pallor, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:79264 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated circulating creatine kinase concentration, Recurrent otitis media, Hydronephrosis |
OMIM:614921 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Gait ataxia, Impaired distal vibration sensation, Sensorineural hearing impairment, Resting tremo... |
OMIM:157640 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Lactic acidosis, Increased serum lactate, Failure to thrive, Hypospadias, Opisthotonus |
OMIM:619272 |
| Sudden Cardiac Failure, Infantile |
|
Metabolic acidosis |
OMIM:617222 |
| Beta-Ureidopropionase Deficiency |
|
Hypsarrhythmia, Increased serum lactate, Elevated circulating N-carbamyl-beta-alanine concentrati... |
OMIM:613161 |
| Hardikar Syndrome |
|
Vesicoureteral reflux, Hypoplasia of the bladder, Recurrent urinary tract infections, Hydroureter... |
OMIM:301068 |
| Nijmegen Breakage Syndrome |
|
Hyperactivity, Macrotia, Recurrent urinary tract infections, Recurrent bronchitis, Choanal atresi... |
OMIM:251260 |
| Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
| Solitary Median Maxillary Central Incisor |
|
Choanal atresia, Midnasal stenosis, Anosmia, Pyriform aperture stenosis, Abnormal nasopharynx mor... |
OMIM:147250 |
| Visceral Myopathy 1 |
|
Vesicoureteral reflux, Polyhydramnios, Urinary retention, Aganglionic megacolon, Megacystis, Dysp... |
OMIM:155310 |
| Renal Tubular Dysgenesis |
|
Abnormality of the urinary system, Anuria, Renotubular dysgenesis, Oligohydramnios |
OMIM:267430 |
| Childhood Disintegrative Disorder |
|
Urinary incontinence, Abnormal repetitive mannerisms |
ORPHA:168782 |
| Carey-Fineman-Ziter Syndrome |
|
Hydronephrosis, Short nose, Anteverted nares, Glandular hypospadias, Facial palsy |
ORPHA:1358 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Limb dystonia, Lactic acidosis, Increased serum lactate, Elevated lactate:pyruvate ratio, Depress... |
OMIM:604377 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Failure to thrive, Metabolic acidosis, Lactic acidosis, Lacticaciduria |
OMIM:615595 |
| Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
| Frontometaphyseal Dysplasia |
|
Conductive hearing impairment, Sensorineural hearing impairment, Wide nasal bridge, Urethral sten... |
ORPHA:1826 |
| Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali... |
OMIM:601369 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Urinary incontinence, Hyperactivity, Wide nasal bridge, Hypsarrhythmia, Abnormal repetitive manne... |
ORPHA:447997 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Gait ataxia, Abnormal vestibular function, Positive Romberg sign, Increased serum lactate, Bilate... |
ORPHA:70595 |
| Vascular Ehlers-Danlos Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Hypokalemia, Bladder diverticulum, Vertigo, Hypospadias, Narr... |
ORPHA:286 |
| Bacterial Toxic-Shock Syndrome |
|
Recurrent urinary tract infections, Hypocalcemia, Elevated circulating creatine kinase concentrat... |
ORPHA:36234 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating... |
ORPHA:247598 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Xerostomia, Renal insufficiency, Oliguria, Dysphagia |
ORPHA:220393 |
| Robinow Syndrome |
|
Multicystic kidney dysplasia, Small for gestational age, Webbed penis, Short nose, Depressed nasa... |
ORPHA:97360 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Polyhydramnios, Conductive hearing impairment, Convex nasal ridge, EEG abnormality, Abnormality o... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Polyhydramnios, Conductive hearing impairment, Convex nasal ridge, EEG abnormality, Abnormality o... |
ORPHA:353277 |
| Cerebrotendinous Xanthomatosis |
|
Somatic sensory dysfunction, Abnormality of somatosensory evoked potentials, Optic atrophy, Resti... |
ORPHA:909 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased serum lactate, Polyhydramnios, Chronic otitis media, Darwin tubercle of helix |
OMIM:612949 |
| Apert Syndrome |
|
Hydronephrosis, Choanal stenosis, Hearing impairment, Depressed nasal bridge, Chronic otitis medi... |
OMIM:101200 |
| Mend Syndrome |
|
Hyperactivity, Abnormal nasal bridge morphology, Abnormal auditory evoked potentials, Elevated 8(... |
ORPHA:401973 |
| Tick-Borne Encephalitis |
|
Somatic sensory dysfunction, Abnormal glossopharyngeal nerve morphology, Abnormal autonomic nervo... |
ORPHA:297 |
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Glycosuria, Lactic acidosis, Increased serum lactate, Failure to thrive, Tremor, Elevated hemoglo... |
OMIM:616539 |
| 5Q14.3 Microdeletion Syndrome |
|
Anteverted nares, Optic nerve hypoplasia, Abnormal repetitive mannerisms, Short nose |
ORPHA:228384 |
| Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Pseudobulbar paralysis, Ataxia, Increased serum lactate, Dysmetria, Dystonia, Intention tremor |
ORPHA:438114 |
| Autosomal Recessive Robinow Syndrome |
|
Multicystic kidney dysplasia, Wide nasal bridge, Hypoplasia of penis, Short nose, Hearing impairm... |
ORPHA:1507 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Oligohydramnios, Prominent nose, Abnormal earlobe morphology, Dehydration |
ORPHA:96191 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Wide nose, Choanal stenosis, Conductive hearing impairment, Vesicovaginal fistula, Small for gest... |
OMIM:201750 |
| Rubinstein-Taybi Syndrome 1 |
|
Polyhydramnios, Hyperactivity, Convex nasal ridge, Prominent nose, Wide nasal bridge, EEG abnorma... |
OMIM:180849 |
| Duane Retraction Syndrome |
|
Narrow internal auditory canal, Sensorineural hearing impairment, Blepharospasm, Wide nasal bridg... |
ORPHA:233 |
| Mckusick-Kaufman Syndrome |
|
Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Urethral strict... |
ORPHA:2473 |
| Glycogen Storage Disease Ia |
|
Enlarged kidney, Lactic acidosis, Gout, Decreased glomerular filtration rate, Proteinuria, Focal ... |
OMIM:232200 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Increased serum lactate, Myoglobinuria, Elevated circulating creatine kinase concentration, Lacti... |
OMIM:255125 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Wrist flexion contracture, Flexion contracture, Camptodactyly, Joint laxity, Flexion contracture ... |
ORPHA:254528 |
| Melnick-Needles Syndrome |
|
Macrotia, Recurrent otitis media, Failure to thrive, Ureteral stenosis, Stillbirth, Hydronephrosis |
OMIM:309350 |
| Netherton Syndrome |
|
Failure to thrive, Angioedema, Hypernatremic dehydration, Allergic rhinitis |
OMIM:256500 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Macrotia, Recurrent hand flapping, Recurrent otitis media, Abnormal repetitive man... |
ORPHA:449291 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Optic atrophy, Severe lactic acidosis, Lactic acidosis, Increased serum lactate, Elevated circula... |
OMIM:610505 |
| Gabriele-De Vries Syndrome |
|
Small for gestational age, Bulbous nose, Tremor, Ureteropelvic junction obstruction, Attention de... |
ORPHA:506358 |
| Occipital Horn Syndrome |
|
Dysphagia, Abnormality of the sense of smell, Bladder diverticulum, Recurrent urinary tract infec... |
ORPHA:198 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent bronchitis, Recurrent pharyngitis, Recurrent sinusitis, Recurrent otitis media, Hyperka... |
ORPHA:293978 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Nephrotic syndrome, Short nose, Short columella, Posteriorly rotated ears, Dysesthesia, Low-set e... |
OMIM:601776 |
| Chime Syndrome |
|
Depressed nasal ridge, Abnormality of the kidney, Abnormality of the outer ear, Hearing impairmen... |
ORPHA:3474 |
| Simpson-Golabi-Behmel Syndrome |
|
Nephroblastoma, Hydronephrosis, Polyhydramnios, Multicystic kidney dysplasia, Wide nasal bridge, ... |
ORPHA:373 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Depressed nasal ridge, Lactic acidosis, Increased serum lactate, Failure to thrive, Increased cir... |
OMIM:600462 |
| Duplication Of Urethra |
|
Vesicoureteral reflux, Urinary incontinence, Penile hypospadias, Anuria, Recurrent urinary tract ... |
ORPHA:237 |
| 3Mc Syndrome 1 |
|
Conductive hearing impairment, Hearing impairment, Hydronephrosis |
OMIM:257920 |
| Cystic Fibrosis |
|
Failure to thrive, Nasal polyposis, Hypercalciuria, Dehydration |
OMIM:219700 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Absent nares, Single naris, Hyposmia, Hypoplasia of penis, Anosmia |
ORPHA:2250 |
| Glycogen Storage Disease Ixc |
|
Increased serum lactate, Lactic acidosis |
OMIM:613027 |
| Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the earlobes, Wide nasal bridge, Short nose, ... |
ORPHA:2308 |
| Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Abnormal circulating creatine kinase concentration, Impaired vibration sensation in the lower lim... |
ORPHA:521411 |
| Occipital Horn Syndrome |
|
Convex nasal ridge, Decreased circulating ceruloplasmin concentration, Bladder diverticulum, Decr... |
OMIM:304150 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms, Short nose |
ORPHA:85277 |
| Okamoto Syndrome |
|
Underdeveloped nasal alae, Urinary incontinence, Macrotia, Wide nasal bridge, Abnormal helix morp... |
ORPHA:2729 |
| Mesomelia-Synostoses Syndrome |
|
Polyhydramnios, Convex nasal ridge, Hearing impairment, Hydronephrosis |
OMIM:600383 |
| Hereditary Fructose Intolerance |
|
Hyperuricemia, Hypophosphatemia, Chronic kidney disease, Hypermagnesemia, Renal insufficiency, Me... |
ORPHA:469 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Small for gestational age, Pericardial effusion, Ele... |
ORPHA:26793 |
| Campomelic Dysplasia |
|
Polyhydramnios, Conductive hearing impairment, Depressed nasal ridge, Failure to thrive, Hypospad... |
OMIM:114290 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Optic atrophy, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms |
ORPHA:313892 |
| Johanson-Blizzard Syndrome |
|
Underdeveloped nasal alae, Convex nasal ridge, Sensorineural hearing impairment, Increased VLDL c... |
OMIM:243800 |
| Glycogen Storage Disease Ic |
|
Hyperuricemia, Hematuria, Lactic acidosis, Decreased glomerular filtration rate, Recurrent upper ... |
OMIM:232240 |
| Wiedemann-Rautenstrauch Syndrome |
|
Dilatation of renal calices, Convex nasal ridge, Optic atrophy, Truncal ataxia, Action tremor, Sl... |
ORPHA:3455 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Anosmia |
OMIM:614842 |
| Methanol Poisoning |
|
Alcoholism, Hyperlipidemia, Metabolic acidosis |
ORPHA:31825 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Anosmia |
ORPHA:52901 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Cerebral edema, Torticollis, Ataxia, Lactic acidosis, Increased serum lactate, Tremor, Restlessness |
OMIM:617186 |
| Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Hyposmia |
OMIM:607060 |
| Prader-Willi Syndrome Due To Translocation |
|
Head-banging, Prominent nose, Abnormality of the kidney, Abnormal repetitive mannerisms, Compulsi... |
ORPHA:177907 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Scrotal hypospadias, Microphallus, Hyperkalemia, Hypospadias, Penoscrotal hypospadias, Perineal h... |
OMIM:201810 |
| Isotretinoin-Like Syndrome |
|
Anotia, Microtia, Aplasia/Hypoplasia of the inner ear, Anteverted nares, Bilateral sensorineural ... |
ORPHA:2306 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Anosmia |
OMIM:614839 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Chorea, EEG with series of focal spikes, EEG abnormality, Prominent nasal tip, Repetitive compuls... |
ORPHA:522077 |
| Cardiospondylocarpofacial Syndrome |
|
Fusion of middle ear ossicles, Vesicoureteral reflux, Conductive hearing impairment, Wide nasal b... |
OMIM:157800 |
| Acquired Methemoglobinemia |
|
Acidosis |
ORPHA:464453 |
| Congenital Isolated Acth Deficiency |
|
Hyperkalemia, Hyponatremia |
ORPHA:199296 |
| Glycogen Storage Disease Ib |
|
Enlarged kidney, Lactic acidosis, Gout, Decreased glomerular filtration rate, Proteinuria, Focal ... |
OMIM:232220 |
| Sotos Syndrome |
|
Vesicoureteral reflux, Pedal edema, Conductive hearing impairment, Congenital posterior urethral ... |
ORPHA:821 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Hypospadias, Anosmia, Micropenis |
OMIM:619718 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Wide nasal bridge, Renal agenesis, Abnormal optic disc morphology, Abnormal repetitive mannerisms... |
ORPHA:508498 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Polyhydramnios, Neonatal death, Hydroureter, Nonimmune hydrops fetalis, Pleural effusion, Hypospa... |
OMIM:265380 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Low-set ears, Ataxia, Abnormal repetitive mannerisms, Short nose |
ORPHA:457279 |
| Adult Acute Respiratory Distress Syndrome |
|
Diabetic ketoacidosis, Metabolic acidosis |
ORPHA:70578 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Flexion contracture, Increased serum lactate, Joint contracture, Arthrogryposis multiplex congeni... |
OMIM:618397 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Polyhydramnios, Ataxia, Hyperkalemia, Conjugated hyperbilirubinemia |
OMIM:608885 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Increased urinary glycerol, Metabolic acidosis |
OMIM:229700 |
| Digeorge Syndrome |
|
Renal dysplasia, Hypocalcemia, Unilateral renal agenesis, Recurrent otitis media, Abnormality of ... |
OMIM:188400 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Polyhydramnios, Opisthotonus, Abnormal repetitive mannerisms, Short nose, Depressed nasal bridge,... |
ORPHA:508533 |
| Developmental And Epileptic Encephalopathy 51 |
|
Increased serum lactate, Failure to thrive, Elevated lactate:pyruvate ratio, Dystonia |
OMIM:617339 |
| Waardenburg Syndrome, Type 4C |
|
Anosmia, Sensorineural hearing impairment, Aganglionic megacolon |
OMIM:613266 |
| Mowat-Wilson Syndrome |
|
Conductive hearing impairment, Decreased body weight, Wide nasal bridge, Prominent nasal tip, Bro... |
ORPHA:2152 |
| Lysinuric Protein Intolerance |
|
Aminoaciduria, Stage 5 chronic kidney disease, Oroticaciduria, Failure to thrive, Increased serum... |
OMIM:222700 |
| Encephalocraniocutaneous Lipomatosis |
|
Pelvic kidney, Hydronephrosis |
OMIM:613001 |
| Holoprosencephaly 3 |
|
Hydronephrosis, Single naris, Proboscis, Short columella, Depressed nasal bridge, Abnormality of ... |
OMIM:142945 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Vesicoureteral reflux, Exaggerated startle response, Stereotypical hand wringing, Decreased serum... |
ORPHA:438213 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Vesicoureteral reflux, Elevated circulating creatine kinase concentration, Failure to thrive, Hyp... |
OMIM:615895 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Wide nasal bridge, Multiple bladder diverticula, Periorbital edema, Ascites, Hydronephrosis |
OMIM:613177 |
| Kabuki Syndrome 1 |
|
Macrotia, Crossed fused renal ectopia, Wide nasal bridge, Recurrent otitis media, Posteriorly rot... |
OMIM:147920 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Prominent nose, Abnormal tragus morphology, Abnormality of the kidney, Abnormality of the upper u... |
ORPHA:2636 |
| Mckusick-Kaufman Syndrome |
|
Pedal edema, Vesicovaginal fistula, Hydroureter, Polycystic kidney dysplasia, Aganglionic megacol... |
OMIM:236700 |
| Coffin-Siris Syndrome 1 |
|
Gait ataxia, Hydroureter, Choanal atresia, Ectopic kidney, Hypospadias, Depressed nasal bridge, B... |
OMIM:135900 |
| Genitopatellar Syndrome |
|
Wide nose, Polyhydramnios, Multicystic kidney dysplasia, Prominent nose, Wide nasal bridge, Heari... |
OMIM:606170 |
| Peters Plus Syndrome |
|
Polyhydramnios, Renal duplication, Conductive hearing impairment, Multicystic kidney dysplasia, O... |
ORPHA:709 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Underdeveloped nasal alae, Choanal stenosis, Wide nasal bridge, Failure to thrive, Low-set ears, ... |
ORPHA:83617 |
| Acute Liver Failure |
|
Cerebral edema, Acute kidney injury, Acidosis, Agitation, Ataxia, Hyperammonemia, Pain insensitiv... |
ORPHA:90062 |
| Treacher-Collins Syndrome |
|
Conductive hearing impairment, Narrow internal auditory canal, Blepharospasm, Wide nasal bridge, ... |
ORPHA:861 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Vertebral fusion, Block vertebrae, Hydronephrosis |
OMIM:271520 |
| Ileal Neuroendocrine Tumor |
|
Edema, Weight loss, Hydronephrosis |
ORPHA:100078 |
| Jejunal Neuroendocrine Tumor |
|
Edema, Weight loss, Hydronephrosis |
ORPHA:100077 |
| Hydrolethalus Syndrome 1 |
|
Polyhydramnios, Bifid nose, Midline defect of the nose, Hypospadias, Abnormal pinna morphology, S... |
OMIM:236680 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Convex nasal ridge, Wide nasal bridge, EEG abnormality, Depressed nasal tip, Dysphagia, Uplifted ... |
ORPHA:261537 |
| Knobloch Syndrome 1 |
|
Renal duplication, Bifid ureter, Peripapillary atrophy, Ataxia, Duplicated collecting system, Dep... |
OMIM:267750 |
| Tetrasomy 9P |
|
Glue ear, Hyperactivity, Convex nasal ridge, Recurrent urinary tract infections, Renal dysplasia,... |
ORPHA:3310 |
| Sandifer Syndrome |
|
Torticollis, Abnormal head movements |
ORPHA:71272 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Wide nasal bridge, Increased serum lactate, Failure to thrive, Depressed nasal bridge, Profound h... |
OMIM:619418 |
| Deafness, Autosomal Dominant 80 |
|
Morphological abnormality of the semicircular canal, Dilated vestibule of the inner ear, Cochlear... |
OMIM:619274 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Prominent nose, Wide nasal bridge, Renal dysplasia, Prominent nasolabial fold, Choanal atresia, R... |
ORPHA:480880 |
| Osteogenesis Imperfecta, Type Vii |
|
Recurrent fractures, Multiple prenatal fractures, Osteopenia, Decreased calvarial ossification, H... |
OMIM:610682 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
EEG abnormality, Hypsarrhythmia, Increased serum lactate, Leg dystonia, Decreased nerve conductio... |
ORPHA:565624 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Failure to thrive, Hyperkalemia, Hyponatremia |
ORPHA:90790 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Elevated circulating alpha-fetoprotein concentration, Increased serum lactate, Failure to thrive,... |
OMIM:614924 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
3-Methylglutaconic aciduria, Ataxia, Increased serum lactate, Failure to thrive, Aciduria, Anasar... |
OMIM:203700 |
| Oeis Complex |
|
Vesicovaginal fistula, Hydroureter, Renal agenesis, Epispadias, Duplicated collecting system, Pel... |
OMIM:258040 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Convex nasal ridge, Wide nasal bridge, EEG abnormality, Optic atrophy, Duplication of renal pelvi... |
ORPHA:261552 |
| Yellow Fever |
|
Anuria, Acute kidney injury, Hyperbilirubinemia, Elevated circulating creatine kinase concentrati... |
ORPHA:99829 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Renal duplication, Wide nasal bridge, Short nose, Depressed nasal bridge, Anteverted nares, Low-s... |
OMIM:180700 |
| Mucopolysaccharidosis Type 2 |
|
Wide nose, Hyperactivity, Conductive hearing impairment, Sensorineural hearing impairment, Otoscl... |
ORPHA:580 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Optic nerve dysplasia, Multicystic kidney dysplasia, Hydromyelia, Elevated circulating creatine k... |
OMIM:615287 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Gait ataxia, Prominent nasal tip, Repetitive compulsive behavior, Recurrent otitis media, Abnorma... |
ORPHA:513456 |
| Norrie Disease |
|
Macrotia, Sensorineural hearing impairment, Optic atrophy, EEG abnormality, Cachexia, Abnormal re... |
ORPHA:649 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Lower limb dysmetria, Renal hypoplasia/aplasia, Attention deficit hyperactivity disorder, Abnorma... |
ORPHA:363700 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Macrotia, Abnormality of the kidney, Abnormality of the upper urinary tract, Hydroureter, Choanal... |
ORPHA:2273 |
| Peters-Plus Syndrome |
|
Polyhydramnios, Decreased body weight, Protruding ear, Microtia, second degree, Hypospadias, Uret... |
OMIM:261540 |
| Focal Dermal Hypoplasia |
|
Bifid ureter, Optic atrophy, Cleft ala nasi, Narrow nasal bridge, Broad nasal tip, Horseshoe kidn... |
OMIM:305600 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Increased serum lactate, Failure to thrive, Elevated circulating creatine kinase concentration, F... |
OMIM:610131 |
| Vater/Vacterl Association |
|
Vesicoureteral reflux, Abnormal nasopharynx morphology, Renal dysplasia, Renal agenesis, Patent u... |
OMIM:192350 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Nephroblastoma, Polyhydramnios, Wide nasal bridge, Enlarged kidney, Short nose, Renal cyst, Dupli... |
OMIM:312870 |
| Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Hydronephrosis |
ORPHA:210122 |
| Proximal Spinal Muscular Atrophy |
|
Knee flexion contracture, Flexion contracture, Multiple joint contractures, Elbow flexion contrac... |
ORPHA:70 |
| Tuberous Sclerosis Complex |
|
Hyperactivity, Renal angiomyolipoma, Stage 5 chronic kidney disease, Abnormality of the kidney, P... |
ORPHA:805 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Distal sensory impairment, Ataxia, Lactic acidosis, Failure to thrive, Pain insensitivity, Painle... |
OMIM:256810 |
| Split Cord Malformation |
|
Urinary incontinence, Renal duplication, Detrusor sphincter dyssynergia, Neurogenic bladder, Hydr... |
ORPHA:573278 |
| Otopalatodigital Syndrome, Type Ii |
|
Conductive hearing impairment, Hypospadias, Depressed nasal bridge, Stillbirth, Low-set ears, Pos... |
OMIM:304120 |
| Duodenal Neuroendocrine Tumor |
|
Edema, Hydronephrosis |
ORPHA:100076 |
| Familial Pseudohyperkalemia |
|
Hyperkalemia |
ORPHA:90044 |
| Aneurysm Of Sinus Of Valsalva |
|
Edema, Oliguria |
ORPHA:1054 |
| Viss Syndrome |
|
Polyhydramnios, Macrotia, Exostosis of the external auditory canal, Failure to thrive, Depressed ... |
OMIM:619472 |
| Cardiac Valvular Dysplasia 1 |
|
Hydrops fetalis, Hydroureter, Urethral diverticulum, Edema, Hydronephrosis |
OMIM:212093 |
| Nmda Receptor Encephalitis |
|
Orthostatic hypotension, Chorea, Abnormal autonomic nervous system physiology, Oculogyric crisis,... |
ORPHA:217253 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic atrophy, Optic disc pallor, Ataxia, Increased serum lactate, Tremor, Obesity |
OMIM:614947 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:529965 |
| Proteus Syndrome |
|
Macrotia, Narrow internal auditory canal, Lymphedema, Cachexia, Long penis, Renal cyst, Depressed... |
ORPHA:744 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Increased serum lactate |
OMIM:616811 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Absent or minimally ossified vertebral bodies, Urethrovaginal fistula, Hypoplasia of penis, Abnor... |
ORPHA:93271 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Increased serum lactate |
ORPHA:478029 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Disinhibition, Repetitive compulsive behavior, Polyphagia, Agitation |
OMIM:607485 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Increased serum lactate, Dystonia, Increased serum pyruvate |
OMIM:618222 |
