| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypercalciuria, Dehydration, Nephrocalcinosis, Metabolic acidosis, Hypokalemia, Bilateral sensori... |
OMIM:602722 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney d... |
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 Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
| East Syndrome |
|
Salt craving, Ataxia, Renal salt wasting, Renal magnesium wasting, Metabolic alkalosis, Sensorine... |
ORPHA:199343 |
| Mitochondrial Complex I Deficiency, Nuclear Type 24 |
|
Increased serum lactate |
OMIM:618245 |
| Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
| Distal Renal Tubular Acidosis |
|
Hypocitraturia, Renal cyst, Dehydration, Nephrocalcinosis, Aminoaciduria, Low-molecular-weight pr... |
ORPHA:18 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypokalemic metabolic alkalosis, Salt craving, Ataxia, Polyuria, Renal salt wasting, Elevated ser... |
OMIM:612780 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hypokalemic hypochloremic metabolic alkalosis, Edema, Renal salt wasting, Polyhydramnios, Hydrops... |
OMIM:602522 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... |
OMIM:143880 |
| Central Diabetes Insipidus |
|
Hyponatremia, Anorexia, Dehydration, Weight loss, Polydipsia, Failure to thrive, Nocturia |
ORPHA:178029 |
| 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 |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Hypokalemic hypochloremic metabolic alkalosi... |
OMIM:613090 |
| Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... |
ORPHA:2260 |
| Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Osteopenia, Proteinuria, Renal hypoplasia, Metabolic acidosis, Beta 2-microglobulinuria, Renal co... |
OMIM:611555 |
| Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
| Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Anorexia, Nephrocalcinosis, Metabolic acidosis, Hypokalemia, Distal renal tubular ac... |
OMIM:611590 |
| Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... |
OMIM:616963 |
| Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic aciduria, Acidosis, Ketoacidosis, Met... |
ORPHA:289504 |
| Cystinosis |
|
Renal insufficiency, Proteinuria, Dehydration, Renal tubular dysfunction, Hypokalemia, Aminoacidu... |
ORPHA:213 |
| Type 1 Diabetes Mellitus |
|
Polyuria, Ketoacidosis, Decreased level of 1,5 anhydroglucitol in serum, Polydipsia, Polyphagia |
OMIM:222100 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Small for gestational age, Conjugated hyperbilirubinemia, Oligohydramnios, Dehydration, Nephrocal... |
OMIM:208085 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos... |
OMIM:308990 |
| Bartter Syndrome Type 4 |
|
Polyhydramnios, Renal salt wasting, Dehydration, Protruding ear, Nephrocalcinosis, Increased circ... |
ORPHA:89938 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Torticollis, Intention t... |
OMIM:613724 |
| Bartter Syndrome, Type 2, Antenatal |
|
Increased serum prostaglandin E2, Polyhydramnios, Renal salt wasting, Dehydration, Nephrocalcinos... |
OMIM:241200 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... |
OMIM:618314 |
| Ring Chromosome 8 Syndrome |
|
Anteverted nares, Polyhydramnios, Abnormality of the ureter, Round ear, Short nose, Hydronephrosis |
ORPHA:1450 |
| 2p15-16.1 microdeletion syndrome |
|
Hydronephrosis, Camptodactyly of finger |
DECIPHER:70 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tu... |
OMIM:604278 |
| Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... |
OMIM:248250 |
| Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Abnormality of the kidney, Dehydration, Diabetic ketoacidosis, Abnorma... |
ORPHA:99886 |
| Juvenile Nephropathic Cystinosis |
|
Dehydration, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuri... |
ORPHA:411634 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Polyuria, Nephrocalcinosis, Metabolic acidosis, Hypokalemia, Hypocalcemia, Hypomagn... |
OMIM:620152 |
| Gitelman Syndrome |
|
Hypokalemic alkalosis, Salt craving, Ataxia, Polyuria, Renal magnesium wasting, Vertigo, Enuresis... |
OMIM:263800 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoacidur... |
OMIM:613404 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Metabolic alkalosis, Nephrolithiasis, Athetosis, Hypokalemia, Polydipsia, Tinnitus |
ORPHA:369929 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Increased serum lactate, Hypomagnesemia,... |
OMIM:613845 |
| Renal Tubular Acidosis, Proximal |
|
Hyperchloremic acidosis, Renal tubular acidosis, Proximal renal tubular acidosis |
OMIM:179830 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Renal insufficiency, Hydroureter, Failure to thrive, Polyhydramnios, A... |
ORPHA:223 |
| Apparent Mineralocorticoid Excess |
|
Hypokalemic metabolic alkalosis, Renal insufficiency, Abnormal urine sodium concentration, Nephro... |
ORPHA:320 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Posteriorly rotated ears, Increased serum lactate, Sensorineural hearing impairment, Dehydration,... |
OMIM:618958 |
| Oculoskeletodental Syndrome |
|
Depressed nasal bridge, Hypercalcemia, Sensorineural hearing impairment, Wide nasal bridge, Nephr... |
ORPHA:557003 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia, Polydipsia, Failure to thrive |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia, Polydipsia, Failure to thrive |
OMIM:304800 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... |
OMIM:601198 |
| Senior-Loken Syndrome 4 |
|
Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Renal insufficiency, Anorexia, Optic atrophy, Hyperammonemia, Dehydration, Choreoathetosis, Dysto... |
ORPHA:79312 |
| Familial Hyperaldosteronism Type Iii |
|
Epistaxis, Metabolic alkalosis, Hypercalciuria, Hypokalemia, Polydipsia, Tinnitus |
ORPHA:251274 |
| Combined Malonic And Methylmalonic Aciduria |
|
Ketoacidosis, Failure to thrive, Methylmalonic aciduria, Dehydration |
OMIM:614265 |
| Bartter Syndrome, Type 1, Antenatal |
|
Increased serum prostaglandin E2, Polyhydramnios, Renal salt wasting, Dehydration, Nephrocalcinos... |
OMIM:601678 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Acidosis, Abnormal blood ion concentration, Abnormal tubulointerstitial morpho... |
ORPHA:411629 |
| Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr... |
OMIM:300555 |
| Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weig... |
OMIM:219800 |
| Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Ataxia, Increased serum lactate, Sensorineural hearing impairment, Dystonia, Profound sensorineur... |
OMIM:619196 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... |
OMIM:104200 |
| Primary Unilateral Adrenal Hyperplasia |
|
Epistaxis, Increased urinary potassium, Metabolic alkalosis, Hypokalemia, Polydipsia, Tinnitus, D... |
ORPHA:231580 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Increased serum lactate, Congenital sensorineural hearing impairment, Elevated circulating creati... |
OMIM:617872 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Conductive hearing impairment, Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
| Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Obesity, Renal hypoplasia, Hyposmia, Hydronephrosis, Hearing impairment |
OMIM:615996 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ataxia, Polyuria, Dehydration, Proximal tubulopathy, Failure to thrive, Hearing impairment |
OMIM:560000 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, EEG abnormality, Pr... |
OMIM:239500 |
| Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
| Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Hypokalemic metabolic alkalos... |
OMIM:607364 |
| Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Polyhydramnios, Anore... |
OMIM:241500 |
| Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
| Familial Cold Urticaria |
|
Dysesthesia, Sensorineural hearing impairment, Polydipsia, Dehydration |
ORPHA:47045 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Increased serum lactate, Alaninuria, Metabolic acidosis |
OMIM:615158 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine, Metabolic acidosis, Hyperphos... |
ORPHA:94086 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Polyhydramnios, Hypercalciuria, Hypochloremia, Hypokalemia, Increased cir... |
OMIM:300971 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Renal insufficiency, Failure to thrive, Hyperammonemia, Dehydration |
ORPHA:28 |
| 3-Hydroxyisobutyric Aciduria |
|
Ketoacidosis, Lactic acidosis, Aminoaciduria, Episodic ketoacidosis |
OMIM:236795 |
| Bardet-Biedl Syndrome 17 |
|
Polydipsia, Polyuria, Anosmia, Stage 5 chronic kidney disease, Renal cyst, Obesity, Hyposmia, Mic... |
OMIM:615994 |
| Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
| Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Acidosis, Chronic acidosis, Hypercalciur... |
OMIM:227810 |
| Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Positive Romberg sign, Prelingual sensorineural hearing impairment,... |
OMIM:616515 |
| X-Linked Intellectual Disability, Schimke Type |
|
Narrow nasal bridge, Failure to thrive in infancy, Choreoathetosis, Vesicoureteral reflux, Hydron... |
ORPHA:85285 |
| Hsd10 Disease, Neonatal Type |
|
Metabolic acidosis, Lactic acidosis, Abnormal concentration of acylcarnitine in the urine |
ORPHA:391457 |
| Renal Glucosuria |
|
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia |
OMIM:233100 |
| Combined Oxidative Phosphorylation Deficiency 44 |
|
Increased serum lactate |
OMIM:618855 |
| Phenformin 4-Hydroxylation |
|
Lactic acidosis |
OMIM:261590 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
| Primary Fanconi Renotubular Syndrome |
|
Bicarbonaturia, Dehydration, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hyperchl... |
ORPHA:3337 |
| Blue Diaper Syndrome |
|
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
| Huntington Disease |
|
Dystonia, Oral-pharyngeal dysphagia, Aggressive behavior, Chorea, Abnormality of the sense of sme... |
ORPHA:399 |
| Liddle Syndrome |
|
Nephropathy, Renal insufficiency, Hypokalemia |
ORPHA:526 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Metabolic acidosis, Failure to thrive |
OMIM:264350 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... |
ORPHA:98807 |
| Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia |
ORPHA:33111 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Metabolic acidosis, Decreased serum bicarbonate concentration, Hyperchloremia, Hype... |
OMIM:614492 |
| Hyperaldosteronism, Familial, Type Iii |
|
Polyuria, Hypercalciuria, Metabolic acidosis, Hypokalemia, Polydipsia, Decreased circulating reni... |
OMIM:613677 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 18 |
|
Increased serum lactate |
OMIM:619062 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Failure to thrive |
OMIM:239199 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased urinary potassium, Metabolic alkalosis, Hypokalemia, Paresthesia, Tinnitus, ... |
ORPHA:231625 |
| Osteootohepatoenteric Syndrome |
|
Proteinuria, Grade II vesicoureteral reflux, Dehydration, Weight loss, Hypokalemia, Increased ser... |
OMIM:619377 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Dehydration, Decreased c... |
ORPHA:79159 |
| Beta-Ketothiolase Deficiency |
|
Ketonuria, Ataxia, Edema, Anorexia, Increased serum lactate, Ketoacidosis, Hyperammonemia, Weight... |
ORPHA:134 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Elevated lactate:pyruvate ratio, Ketonuria, Metabolic ketoacidosis, Increased serum lactate, Keto... |
OMIM:615453 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Polyhydramnios, Pericardial effusion, Recurrent upp... |
OMIM:618183 |
| Pyruvate Carboxylase Deficiency |
|
Elevated lactate:pyruvate ratio, Anorexia, Tremor, Dehydration, Lactic acidosis, Compulsive behav... |
ORPHA:3008 |
| Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
| Cholera |
|
Hyponatremia, Abnormality of renal excretion, Acidosis, Abnormal blood ion concentration, Dehydra... |
ORPHA:173 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Anteverted nares, Elevated circulating creatine kinase concentrat... |
OMIM:619743 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine concentration, Hyper... |
OMIM:251120 |
| Macdermot-Winter Syndrome |
|
Macrotia, Posteriorly rotated ears, Hydronephrosis |
OMIM:247990 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Ataxia, Anteverted nares, Large for gestational age, Depressed na... |
OMIM:615398 |
| Sulfite Oxidase Deficiency, Isolated |
|
Sulfocysteinuria, Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentratio... |
OMIM:272300 |
| Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
| Pearson Syndrome |
|
Elevated lactate:pyruvate ratio, Hydrops fetalis, Renal cyst, Dehydration, Lactic acidosis, Hypoc... |
ORPHA:699 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Hypouricemia, Large for gestational age, Nephrocalcinosis, Glycos... |
OMIM:616026 |
| Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Abnormality of acid-base homeostasis, Abnormal blood ion conce... |
ORPHA:31824 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemic alkalosis, Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Incre... |
OMIM:241150 |
| Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
| Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Increased serum lactate, Lactic acidosis, Lacticaciduria |
ORPHA:79246 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hyperphosphaturia, Hypercalcemia, Choanal atresia, Hypercalciuria, Nephrocalcinosis, Choanal sten... |
OMIM:156400 |
| Congenital Myopathy 19 |
|
Posteriorly rotated ears, Renal atrophy, Depressed nasal ridge, Low-set ears, Dysphagia, Hydronep... |
OMIM:618578 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Lactic acidosis, 3-Methylglutaconic aciduria |
OMIM:614053 |
| Pseudohypoaldosteronism, Type Iie |
|
Metabolic acidosis, Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia |
OMIM:614496 |
| Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Hypercalcemia, Polyuria, Hypercalciuria, Aminoaciduria, Hypophosph... |
OMIM:239200 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Renal salt wasting, Hyperkalemia, Dehydration, Increased c... |
OMIM:610600 |
| Intellectual Disability-Strabismus Syndrome |
|
Failure to thrive, Hyperactivity, Hypospadias, Depressed nasal bridge, Hearing impairment, Polyhy... |
ORPHA:363528 |
| Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Nephrocalcinosis, Failure to thrive, Polyhydramnios, Interictal epileptiform activity |
ORPHA:500533 |
| Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
| Gitelman Syndrome |
|
Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Renal Fanconi sy... |
ORPHA:358 |
| Familial Hyperaldosteronism Type I |
|
Epistaxis, Hypokalemia, Polydipsia, Tinnitus |
ORPHA:403 |
| Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Elevated lactate:pyruvate ratio, Dystonia, Increased serum lactate, Lacticaciduria, Choreoathetos... |
OMIM:618247 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Metabolic ketoacidosis, Stage 5 chronic kidney disease, Hyperammonemia, M... |
OMIM:251000 |
| Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
| Propionic Acidemia |
|
Increased level of hippuric acid in urine, Hyperglycinuria, Hyperammonemia, Dehydration, Lactic a... |
OMIM:606054 |
| Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hypertriglyceridemia, Hypercalciuria, Generalized aminoaciduria, Hypophosphate... |
ORPHA:2088 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Increased serum lactate |
OMIM:615395 |
| Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Metabolic acidosis, Increased level of L-pyroglutamic acid in urine |
OMIM:231900 |
| Senior-Boichis Syndrome |
|
Polydipsia, Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney dise... |
ORPHA:84081 |
| Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Obesity, Truncal obesity, Polydipsia, Polyphagia |
OMIM:615986 |
| Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Broad nasal tip, Aggressive behavior, Obesity, Enuresis, Self-injur... |
OMIM:613670 |
| Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
| Peroxisome Biogenesis Disorder 10B |
|
Nephrocalcinosis, Neurogenic bladder, Posteriorly rotated ears, Low-set ears |
OMIM:617370 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Nephrocalcinosis, Obesity, Polyhydramnios |
OMIM:615633 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate, Severe lactic acidosis |
OMIM:616111 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Edema, Chronic kidney di... |
ORPHA:97362 |
| Chronic Hiccup |
|
Abnormal eating behavior, Dehydration, Weight loss |
ORPHA:396 |
| Tricarboxylic Acid Cycle, Defect Of |
|
Persistent lactic acidosis |
OMIM:275370 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... |
ORPHA:93111 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Renal insufficiency, Ataxia, Optic atrophy, Hyperammonemia, Dehydration, Choreoathetosis |
ORPHA:27 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Increased circulating renin level, F... |
OMIM:203400 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Polyhydramnios, Metabolic alkalosis, Elevated serum bicarbonate concentration, Dehy... |
OMIM:214700 |
| Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Septo-optic dysplasia, Optic nerve hypoplasia, Sensorineural hearing impairm... |
ORPHA:3157 |
| 46,Xy Sex Reversal 4 |
|
Anteverted nares, Prominent nose, Sensorineural hearing impairment, Elevated circulating creatini... |
OMIM:154230 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
| Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin... |
ORPHA:1652 |
| Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Metabolic alkalosis, Hypokalemia, Decreased circulating renin level, Tinnitus, Renal c... |
ORPHA:231632 |
| Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Small for gestational age, Posteriorly rotated ears, Prominent nasal bridge, Aggre... |
OMIM:609425 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Ataxia, Increased serum lactate, Tremor, Low-set ears, Failure to thrive |
OMIM:618951 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Nephrocalcinosis, Slender build, Wide nasal bridge, Polyhydramnios |
OMIM:611087 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Posteriorly rotated ears, Depressed nasal bridge, Facial palsy, Increased seru... |
OMIM:606407 |
| Ravine Syndrome |
|
Ataxia, Anorexia, Abnormal auditory evoked potentials, Decreased body weight, Failure to thrive |
ORPHA:99852 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Increased serum lactate |
OMIM:616209 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia |
OMIM:614495 |
| Refsum Disease, Classic |
|
Somatic sensory dysfunction, Ataxia, Sensorineural hearing impairment, Elevated circulating phyta... |
OMIM:266500 |
| Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
| Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
| Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hyposmia, Hearing impairment |
OMIM:615266 |
| Acetyl-Coa Acetyltransferase-2 Deficiency |
|
Increased serum lactate |
OMIM:614055 |
| Helix Syndrome |
|
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Xerostomia, Hypokalemia, Hypocal... |
OMIM:617671 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Depressed nasal bridge, Hypercalcemia, Hypercalciuria, Renal cyst, Obesity,... |
ORPHA:369837 |
| Reticular Dysgenesis |
|
Dehydration, Weight loss, Chronic otitis media, Failure to thrive, Hearing impairment |
ORPHA:33355 |
| Lesch-Nyhan Syndrome |
|
Dystonia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Choreoathetosis, Self-injurious beh... |
OMIM:300322 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Dehydration, Oligosacchariduria, Nephrocalcinosis, Protruding ear, Aminoaciduria, ... |
ORPHA:534 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Dystonia, Tremor, Impaired vibration sensation in the lower limbs, Impaired propr... |
ORPHA:251282 |
| Familial Isolated Hyperparathyroidism |
|
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... |
ORPHA:99879 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-inju... |
ORPHA:382 |
| Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Dystonia, Hype... |
OMIM:617595 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Prominent nasal bridge, Prominent nose, Sensorineural hearing impairme... |
OMIM:214150 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... |
OMIM:613095 |
| Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Hyposmia, Hearing impairment |
OMIM:615271 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing i... |
ORPHA:320401 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... |
OMIM:300554 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen... |
ORPHA:94093 |
| Glucose-Galactose Malabsorption |
|
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Dehydration, Weight loss,... |
ORPHA:35710 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Sensorineural hearing impairment, Chronic kidney disease, Thickened glomerular basem... |
OMIM:146255 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Dehydration, Increased circulating renin lev... |
ORPHA:556030 |
| Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
| Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... |
OMIM:613496 |
| Rabson-Mendenhall Syndrome |
|
Wide nose, Anteverted nares, Prominent nasal bridge, Long penis, Nephrocalcinosis, Diabetic ketoa... |
ORPHA:769 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Tremor, Hyperamm... |
OMIM:251100 |
| Succinic Acidemia |
|
Lactic acidosis |
OMIM:600335 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Failure to thrive, Hyperchloremic metabolic acidosis, Dehydration |
OMIM:610370 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Pain insensitivity, Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Obesity... |
ORPHA:251004 |
| Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Hypokalemia, Aminoac... |
OMIM:617913 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Unilateral renal agenesis, Anosmia, Hyposmia, Micropenis, Hearing impairment |
OMIM:244200 |
| Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Abnorm... |
ORPHA:107 |
| Mercury Poisoning |
|
Anorexia, Tremor, Hypokalemia, Dystonia, Acute kidney injury |
ORPHA:330021 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Renal insufficiency, Failure to thrive, Proteinuria, Ataxia,... |
ORPHA:90321 |
| Mitochondrial Myopathy, Lethal, Infantile |
|
Lactic acidosis |
OMIM:551000 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Aciduria, Increased serum lactate, Sensorineural hearing impairment, Low-set ears, Hyperalaninemi... |
OMIM:617950 |
| Familial Hyperaldosteronism Type Ii |
|
Metabolic alkalosis, Epistaxis, Hypokalemia, Tinnitus |
ORPHA:404 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Vertigo, Ataxia, Torticollis |
ORPHA:71518 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Increased serum pyruvate, Sensorineural hearing impairment, Increased serum lactate, Ataxia |
OMIM:545000 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
| 3-Methylglutaconic Aciduria Type 9 |
|
Urinary incontinence, Aggressive behavior, Increased serum lactate, Optic atrophy, Hypsarrhythmia... |
ORPHA:505216 |
| Isolated Glycerol Kinase Deficiency |
|
Metabolic acidosis, Osteoporosis |
ORPHA:408 |
| 8P23.1 Duplication Syndrome |
|
Wide nose, Hydronephrosis, Hearing impairment |
ORPHA:251076 |
| 2P21 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Nephrolithiasis, Cystinuria, Lactic ac... |
ORPHA:163693 |
| Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Lactic acidosis, Hydroureter, Hydronephrosis |
OMIM:618240 |
| Cat-Eye Syndrome |
|
Hearing impairment, Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Edema, Nephrolithiasis, Obesity, Alkalosis, Hypokalemia, Abdominal obesity |
OMIM:219090 |
| Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
| Developmental And Epileptic Encephalopathy 41 |
|
Nephrocalcinosis, EEG abnormality, Hypsarrhythmia |
OMIM:617105 |
| Smith-Magenis Syndrome |
|
Hyperactivity, Hypertriglyceridemia, Impaired pain sensation, Abnormal repetitive mannerisms, Abn... |
OMIM:182290 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Anorexia, El... |
ORPHA:49041 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... |
OMIM:601382 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Increased serum lactate, Sensorineural hearing impairment, Optic atrophy, Hyperammonemia, Lactic ... |
OMIM:614739 |
| Idiopathic Hypercalciuria |
|
Osteopenia, Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalat... |
ORPHA:2197 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Increased urine alpha-ketoglutarate concentration, Dystonia, Ataxia, Increased serum lactate, Ver... |
OMIM:614458 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Increased serum lactate, Renal cyst, Opisthotonus, Nephrocalcinosis, Choreoa... |
ORPHA:445038 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, Ataxia, Edema, Anorexia, Increased serum lactate, Hyperammonemia, Weight loss, Dehydra... |
ORPHA:20 |
| Hypomagnesemia 2, Renal |
|
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia |
OMIM:154020 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Renal insufficiency, Ketoacidosis, Chronic kidney disease, Hyperammonemia, Dehydrat... |
ORPHA:1667 |
| Indifference To Pain, Congenital, Autosomal Recessive |
|
Pain insensitivity, Urinary incontinence, Impaired temperature sensation, Impaired proprioception... |
OMIM:243000 |
| Primary Hyperoxaluria |
|
Hyperoxaluria, Optic disc pallor, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disea... |
ORPHA:416 |
| Autism, Susceptibility To, X-Linked 3 |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:300425 |
| Liddle Syndrome 1 |
|
Renal insufficiency, Hypokalemia, Hypokalemic alkalosis, Decreased circulating renin level |
OMIM:177200 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Metabolic alkalosis, Nephrolithiasis, Athetosis, Hypokalemia, Decreased circulating renin level |
OMIM:615474 |
| Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... |
OMIM:606995 |
| 3-Methylglutaconic Aciduria, Type Ix |
|
Urinary incontinence, Aggressive behavior, Increased serum lactate, Optic atrophy, Hypsarrhythmia... |
OMIM:617698 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Edema, Minimal chang... |
ORPHA:567548 |
| Carnitine Deficiency, Systemic Primary |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Dehydr... |
OMIM:212140 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... |
OMIM:617519 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Increased serum lactate, Optic atrophy, Metabolic acidosis, Dystonia, Neonatal death, Failure to ... |
OMIM:618237 |
| Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Rickets, Metabolic acidosis, Aminoaciduria, Glycosuria, Low-molecular-weight p... |
OMIM:615605 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Overhanging nasal tip, Posteriorly rotated ears, Unilateral renal agenesis, Increased nuchal tran... |
OMIM:618494 |
| Hsd10 Mitochondrial Disease |
|
Restlessness, Elevated circulating tiglylglycine concentration, Aggressive behavior, Sensorineura... |
OMIM:300438 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... |
OMIM:248190 |
| Image Syndrome |
|
Depressed nasal bridge, Hypospadias, Hydronephrosis, Low-set ears |
ORPHA:85173 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Depressed nasal bridge, Aggressive behavior, Increased serum lactate, Sensorineura... |
OMIM:615824 |
| 6P22 Microdeletion Syndrome |
|
Overfolded helix, Hydronephrosis, Low-set ears, Hearing impairment |
ORPHA:251046 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Edema, Increased serum lactate, Nephrotic syndrome, Hypoalbuminemia |
OMIM:614652 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Increased serum lactate, Lactic acidosis, Metabolic acidosis |
ORPHA:91130 |
| Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Anorexia, Xerostomia, Hypokalemia, Paresthesia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
| Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
| Hsd10 Disease, Infantile Type |
|
Restlessness, Dystonia, Increased serum lactate, Optic atrophy, Hyperammonemia, Choreoathetosis, ... |
ORPHA:391428 |
| Panhypophysitis |
|
Hyponatremia, Orthostatic hypotension, Sensorineural hearing impairment, Hyposthenuria, Polydipsia |
ORPHA:95513 |
| Autism |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:209850 |
| Autism, Susceptibility To, 8 |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:607373 |
| Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Edema, Tremor, Pedal edema, Hand tremor, Amino... |
OMIM:277900 |
| Paget Disease Of Bone 6 |
|
Nephrocalcinosis |
OMIM:616833 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
| Orofaciodigital Syndrome Xv |
|
Wide nasal bridge, Anteverted nares, Hydronephrosis, Low-set ears |
OMIM:617127 |
| Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Ataxia, Anteverted nares, Depre... |
OMIM:618161 |
| 3-Methylglutaconic Aciduria, Type I |
|
Ataxia, Urinary incontinence, Optic atrophy, Metabolic acidosis, Athetosis, 3-Methylglutaconic ac... |
OMIM:250950 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Dystonia... |
ORPHA:52368 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Ataxia, Sensorineural hearing impairment, Nephrocalcinosis, Lactic acidosis, Aminoaciduria |
OMIM:616084 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated lactate:pyruvate ratio, Elevated urinary 4-hydroxybutyric acid, Nonimmune hydrops fetali... |
OMIM:619003 |
| Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Optic neuropathy, Calcium oxalate nephrolithiasis, Optic atro... |
OMIM:259900 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hyposmia, Micropenis, Anosmia, Sensorineural hearing impairment |
OMIM:612702 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dystonia, Elevated circulating acylcarnitine concentration, Optic atrophy, Metabolic acidosis, Et... |
ORPHA:26792 |
| Parathyroid Carcinoma |
|
Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hyp... |
ORPHA:143 |
| Hereditary Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:30925 |
| 22Q11.2 Duplication Syndrome |
|
Wide nose, Urethral stenosis, Depressed nasal ridge, Anterior creases of earlobe, Compulsive beha... |
ORPHA:1727 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Lactic acidosis, Increased serum lactate, Metabolic acidosis, Osteoporosis |
OMIM:618234 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Increased circulating beta-C-terminal telopeptide concentration, Nephrolithias... |
ORPHA:157215 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Hemolytic-uremic syndrome, Increased serum lactate, Tremor, Elevated circulating cre... |
OMIM:274150 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Ketonuria, Methylmalonic aciduria, Hyperammonemia, Dehydration, Metabolic... |
OMIM:251110 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Increased serum lactate, Sensorineural hearing impairment, Elevated circulating creatine kinase c... |
OMIM:617070 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Orthostatic hypotension, Vertigo, Elevated urinary dopamine level, Elevated circulating creatinin... |
ORPHA:230 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Ataxia... |
ORPHA:79282 |
| Williams-Beuren Region Duplication Syndrome |
|
Small for gestational age, Unilateral renal agenesis, Broad nasal tip, Attention deficit hyperact... |
OMIM:609757 |
| Isovaleric Acidemia |
|
Ketoacidosis, Metabolic acidosis, Hyperglycinuria, Dehydration |
OMIM:243500 |
| Marcus-Gunn Syndrome |
|
Abnormal ear morphology, Abnormal fifth cranial nerve morphology, Choanal atresia, Nephrolithiasi... |
ORPHA:91412 |
| Wolfram Syndrome |
|
Recurrent urinary tract infections, Ataxia, Dysuria, Sensorineural hearing impairment, Optic atro... |
ORPHA:3463 |
| Glycogen Storage Disease 0, Liver |
|
Increased serum lactate |
OMIM:240600 |
| Peroxisome Biogenesis Disorder 9B |
|
Ataxia, Total anosmia, Sensorineural hearing impairment, Elevated circulating phytanic acid conce... |
OMIM:614879 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, EEG abnormality, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible... |
OMIM:608636 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexi... |
OMIM:619386 |
| Alpha-Methylacetoacetic Aciduria |
|
Episodic ketoacidosis, Dehydration |
OMIM:203750 |
| Scorpion Envenomation |
|
Restlessness, Respiratory alkalosis, Increased circulating NT-proBNP concentration, Ketonuria, At... |
ORPHA:466677 |
| Lactase Deficiency, Congenital |
|
Metabolic acidosis, Dehydration |
OMIM:223000 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Metabolic acidosis, Myoglobinuria, Neonatal death, Dehydration |
OMIM:602199 |
| Lamellar Ichthyosis |
|
Chronic otitis media, Renal insufficiency, Abnormal helix morphology, Dehydration |
ORPHA:313 |
| Arima Syndrome |
|
Proteinuria, Polyuria, Ataxia, Optic atrophy, Stage 5 chronic kidney disease, Hematuria, Renal co... |
OMIM:243910 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Methylmalonic acidemia, Small for gestational age, Elevated circulating creatine kinase concentra... |
OMIM:612073 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
| Glucose/Galactose Malabsorption |
|
Metabolic acidosis, Failure to thrive, Hypertonic dehydration, Glycosuria |
OMIM:606824 |
| Microvillus Inclusion Disease |
|
Nephrocalcinosis, Metabolic acidosis, Abnormal renal physiology, Dehydration |
ORPHA:2290 |
| Romano-Ward Syndrome |
|
Hypokalemia, Abnormal autonomic nervous system physiology, Hearing impairment |
ORPHA:101016 |
| Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Ataxia, Increased serum lactate, Optic atrophy, Dysmetria, Dystonia, Failure to thrive, Hearing i... |
OMIM:617954 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Hyperkalemia, Dehydration, Weight loss, Metabolic aci... |
ORPHA:171876 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Depressed nasal ridge, Oli... |
ORPHA:731 |
| Potocki-Lupski Syndrome |
|
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Abnormal renal morphology, E... |
OMIM:610883 |
| Xq28 (MECP2) duplication |
|
Depressed nasal bridge, Macrotia, Functional abnormality of the bladder, Gait ataxia, Dysphagia, ... |
DECIPHER:45 |
| Teratoma, Pineal |
|
Polydipsia, Polyuria |
OMIM:273120 |
| Fragile X Syndrome |
|
Abnormal head movements, Hyperactivity, Macrotia, Self-biting, Recurrent hand flapping |
OMIM:300624 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Ataxia, Increased serum lactate, Sensorineural hearing impairment, Hype... |
OMIM:619046 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Dystonia, Ataxia, Aggressive behavior, Chorea, EEG abnormality, Inappropriate laughter, Bruxism, ... |
OMIM:619150 |
| Tyrosinemia, Type I |
|
Hypertyrosinemia, Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Neph... |
OMIM:276700 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Small for gestational age, Anteverted nares, Increased serum lactate, T... |
OMIM:312170 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Anteverted nares, Depressed nasal bridge, Impaired pain sensation, Aggressive behav... |
ORPHA:293987 |
| Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Optic atrophy, Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Paresthesia, ... |
ORPHA:428 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Polyhydramnios, Increased serum lactate, Tremor, Bulbous nose, Dehydration, Opisthotonus,... |
OMIM:616271 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Nonimmune hydrops fetalis, Upper limb postural tremor, Increased serum lactate, Dysphagia, EEG wi... |
ORPHA:477774 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Micropenis, Abnormality of the sense of smell |
OMIM:146110 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hyp... |
ORPHA:99880 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Decreased plasma free c... |
OMIM:608836 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Metabolic acidosis, Hyperalaninemia, Sensorineural hearing impairment |
ORPHA:2597 |
| Floating-Harbor Syndrome |
|
Long nose, Renal cyst, Nephrocalcinosis, Compulsive behaviors, Conductive hearing impairment, Hyp... |
ORPHA:2044 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Elevated lactate:pyruvate ratio, Increased serum lactate, Ketoacidosis, Metabolic acidosis, Tubul... |
OMIM:614582 |
| Huntington Disease-Like 1 |
|
Restlessness, Abnormal head movements, Chorea, Dysmetria, Gait ataxia, Weight loss, EEG abnormali... |
ORPHA:157941 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Dehydration |
OMIM:601410 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Dehydration, Metabolic acidosis, Increased circulating renin level, F... |
OMIM:177735 |
| Combined Oxidative Phosphorylation Deficiency 5 |
|
Posteriorly rotated ears, Edema, Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabo... |
OMIM:611719 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypokalemic metabolic alkalosis, Pericardial effusion, Abnormal renal tubular resorption, Hyperca... |
ORPHA:73224 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Increased serum lactate, Tremor, Lactic acidosis, Progressive cerebellar ataxia, Dystonia, Hearin... |
ORPHA:139485 |
| Galloway-Mowat Syndrome 6 |
|
Proteinuria, Anteverted nares, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbumi... |
OMIM:618347 |
| Whipple Disease |
|
Hyponatremia, Ataxia, Anorexia, Cachexia, Pedal edema, Polydipsia |
ORPHA:3452 |
| Acquired Central Diabetes Insipidus |
|
Pollakisuria, Polydipsia, Weight loss |
ORPHA:95626 |
| Apparent Mineralocorticoid Excess |
|
Small for gestational age, Metabolic alkalosis, Hypokalemia, Failure to thrive, Decreased circula... |
OMIM:218030 |
| Jeavons Syndrome |
|
Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with... |
ORPHA:139431 |
| Xanthinuria, Type I |
|
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis |
OMIM:278300 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Tremor, Impaired proprioception, Dysmetria, Gait ataxia, Intention tremor, Ataxia, Action tremor,... |
ORPHA:99027 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Abnormality of the kidney, Decreased serum iron, Broad nasal tip, Overweight, Repetitive compulsi... |
ORPHA:391372 |
| Erdheim-Chester Disease |
|
Renal insufficiency, Polydipsia, Ataxia, Dysuria, Weight loss, Joint swelling, Pleural effusion, ... |
ORPHA:35687 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, R... |
ORPHA:101085 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen... |
OMIM:601152 |
| Hypokalemic Tubulopathy And Deafness |
|
Acidosis, Renal salt wasting |
OMIM:619406 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
| Riboflavin Deficiency |
|
Metabolic acidosis, Lactic acidosis, Dicarboxylic aciduria |
OMIM:615026 |
| Oxoglutarate Dehydrogenase Deficiency |
|
Increased serum lactate, Metabolic acidosis, Congenital lactic acidosis |
OMIM:203740 |
| Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Sensorineural hearing impairment, Optic atrophy, Abnormal autonomic nervous system p... |
OMIM:598500 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Increased body weight, Weight loss, Hypokalemia, Abnormality of... |
ORPHA:1501 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia, Decreased urinary potassium |
OMIM:611489 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Choanal atresia, Sensorineural hearing impairment, Anosmia, Hyposmia, Micropenis |
OMIM:147950 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Elevated circulating creatinine concentration, Dehydration, Hemoglobinuria,... |
ORPHA:90038 |
| Pediatric-Onset Graves Disease |
|
Hyperactivity, Tremor, Polydipsia, Failure to thrive, Polyphagia, Oligohydramnios |
ORPHA:525731 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Elevated lactate:pyruvate ratio, Increased serum lactate, Sensorineural hearing impairment, Lacti... |
OMIM:616974 |
| Developmental And Epileptic Encephalopathy 53 |
|
Increased serum lactate, Dystonia, Elevated circulating creatine kinase concentration, Hypsarrhyt... |
OMIM:617389 |
| Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hypokalemia, Pare... |
ORPHA:682 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
EEG abnormality, Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
| Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Ataxia, Tremor, Sensorineural hearing impairment, Optic atrophy,... |
OMIM:222300 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms |
OMIM:617862 |
| Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Hypouricemia, Xanthine nephrolithiasis, Xanthin... |
ORPHA:3467 |
| Recombinant Chromosome 8 Syndrome |
|
Anteverted nares, Posteriorly rotated ears, Depressed nasal bridge, Low-set ears, Hydronephrosis,... |
OMIM:179613 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Ataxia, Abnormality of the upper urinary tract, Dehydration, Weight... |
ORPHA:99885 |
| Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
| Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Renal insufficiency, Orthostatic hypotension, Salt craving, Hypercalcemia, Anorexia... |
ORPHA:95409 |
| Monocarboxylate Transporter 1 Deficiency |
|
Ketoacidosis, Ketonuria |
OMIM:616095 |
| Hawkinsinuria |
|
Metabolic acidosis, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria |
ORPHA:2118 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Abnormal pinna morphology, Depressed nasal bridge, Glutaric aciduria, Generalized aminoaciduria, ... |
OMIM:231680 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis |
OMIM:613312 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Posteriorly rotated ears, Small for gestational age, Polyhydramnios, Anteverted nare... |
OMIM:616897 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypospadias, Small for gestational age, Ataxia, Anteverted nares, Increased serum lactate, Tremor... |
OMIM:614052 |
| Refsum Disease |
|
Renal insufficiency, Ataxia, Anosmia, Sensorineural hearing impairment |
ORPHA:773 |
| Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Dehydration, Renal tubular dysfuncti... |
ORPHA:69076 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Failure to thrive, Dehydration, Renal salt wasting |
OMIM:300200 |
| Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Increased serum lactate |
OMIM:618244 |
| Suleiman-El-Hattab Syndrome |
|
Optic disc pallor, Wide nasal bridge, Protruding ear, Low-set ears, Overfolded helix, Failure to ... |
OMIM:618950 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Small for gestational age, Conjugated hyperbilirubinemia, Sensorine... |
OMIM:617093 |
| Leprechaunism |
|
Wide nose, Long penis, Hypercalciuria, Protruding ear, Nephrocalcinosis, Hypokalemia, Increased c... |
ORPHA:508 |
| Lipoyltransferase 1 Deficiency |
|
Increased serum lactate, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Lactic a... |
OMIM:616299 |
| Hyperostosis Cranialis Interna |
|
Abnormal vestibular function, Facial palsy, Sensorineural hearing impairment, Anosmia, Optic atro... |
OMIM:144755 |
| Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia |
ORPHA:231183 |
| Glycogen Storage Disease Xi |
|
Increased serum lactate, Myoglobinuria, Renal insufficiency |
OMIM:612933 |
| Usher Syndrome Type 1 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia |
ORPHA:231169 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Lactic acidosis, Failure to thrive, 3-Methylglutaconic aciduria, Hearing impairment |
ORPHA:67048 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Metabolic acidosis |
OMIM:301021 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Tremor, Hyperkalem... |
ORPHA:79102 |
| Mitochondrial Complex I Deficiency, Nuclear Type 34 |
|
Metabolic acidosis, Lactic acidosis |
OMIM:618776 |
| Ethylene Glycol Poisoning |
|
Renal insufficiency, Ataxia, Facial palsy, Hyperkalemia, Renal tubular epithelial necrosis, Renal... |
ORPHA:31826 |
| Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Small for gestational age, Polyuria, Narrow nasal ... |
OMIM:606721 |
| Mitochondrial Myopathy With Lactic Acidosis |
|
Increased serum lactate, Lactic acidosis, Elevated serum anion gap |
OMIM:251950 |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Increased serum lactate, Metabolic acidosis |
OMIM:610090 |
| Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Hypokalemia, Weight loss |
OMIM:613239 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Anteverted nares, Aggressive behavior, Tremor, Sensorineural hearing impairment, W... |
OMIM:618342 |
| Optic Atrophy 11 |
|
Decreased sensory nerve conduction velocity, Hyperactivity, Ataxia, Optic nerve hypoplasia, Incre... |
OMIM:617302 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Mixed hearing impairment, Depressed nasal bridge, Polyhydramnios, Sensorineural hearing impairmen... |
OMIM:300990 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... |
ORPHA:2394 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Depressed nasal bridge, Posteriorly rotated ears, Increased serum lactate, Lactic acidosis, Low-s... |
OMIM:618378 |
| Joubert Syndrome 37 |
|
Wide nose, Posteriorly rotated ears, Anteverted nares, Obesity, Wide nasal bridge, Low-set ears, ... |
OMIM:619185 |
| Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder |
OMIM:618709 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Ataxia, Small for gestational age, Increased serum lactate, Abnormal me... |
ORPHA:79243 |
| Distal Duplication 6P |
|
Prominent nasal bridge, Aplasia/Hypoplasia of the earlobes, Renal hypoplasia, Abnormal antitragus... |
ORPHA:1745 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Dehydration, Metabolic acidosis, Increased circulating renin level |
OMIM:620126 |
| Pearson Marrow-Pancreas Syndrome |
|
Small for gestational age, Anorexia, Hypercalciuria, Hydrops fetalis, Dehydration, Lactic acidosi... |
OMIM:557000 |
| D-Glyceric Aciduria |
|
Increased circulating free fatty acid level, Chorea, Hyperglycinuria, Nonketotic hyperglycinemia,... |
ORPHA:941 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Pericardial effusion, Increased serum lactate, Optic atrophy, Hyperamm... |
OMIM:614702 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Anosmia, Short nose, Short nasal septum, Hearing impairment |
OMIM:302950 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Dehydration, Metabolic acidosis, Increased circulating renin level |
OMIM:620125 |
| Sulfide:Quinone Oxidoreductase Deficiency |
|
Lactic acidosis |
OMIM:619221 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hypospadias, Elevated circulating creatine kinase concentration, Po... |
OMIM:301056 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
EEG with parietal epileptiform discharges, Hypospadias, Glomerulonephritis, Proteinuria, Ataxia, ... |
OMIM:619428 |
| D-Glyceric Aciduria |
|
Optic nerve hypoplasia, Sensorineural hearing impairment, Tongue thrusting, Nonketotic hyperglyci... |
OMIM:220120 |
| Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Hypospadias, Edema, Underdeveloped nasal alae, Sensorineural hearing impairm... |
ORPHA:2315 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Small for gestational age, Edema, Increased serum lactate, Lactic acidosis, Low-set ears, Neonata... |
OMIM:610498 |
| Christianson Syndrome |
|
Dystonia, Cachexia, Abnormality of the nose, Dysphagia, Gait ataxia, Inappropriate laughter, Trun... |
ORPHA:85278 |
| Baker-Gordon Syndrome |
|
Ataxia, Choreoathetosis, EEG abnormality, Self-injurious behavior, Dystonia, Prominent nasal tip,... |
OMIM:618218 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Anteverted nares, Renal hypoplasia, Low-set ears, Vesicoureteral reflux, Overfolded helix, Failur... |
OMIM:613735 |
| Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Elevated circulating creatine kinase concentration, Increased serum lactate, Chronic kidney disea... |
ORPHA:324525 |
| N-Acetylaspartate Deficiency |
|
Self-mutilation, Abnormal repetitive mannerisms, Truncal ataxia, Decreased body weight |
OMIM:614063 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Macrotia, Hydronephrosis |
OMIM:619797 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Elevated lactate:pyruvate ratio, Lacticaciduria, Methylmalonic aciduria, Lactic acidosis, Hypergl... |
OMIM:245400 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Failure to thrive, Polyhydramnios, Dehydration |
OMIM:616069 |
| Distal Deletion 10Q |
|
Abnormal morphology of the vestibule of the inner ear, Failure to thrive, Ataxia, Prominent nasal... |
ORPHA:96148 |
| Kallmann Syndrome |
|
Hypoplasia of penis, Renal agenesis, Ataxia, Tremor, Sensorineural hearing impairment, Anosmia, O... |
ORPHA:478 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperlipidemia, Anosmia, Obesity, Hyposmia, Polyphagia |
OMIM:617885 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Posteriorly rotated ears, Depressed nasal bridge, Optic nerve hypoplasia, Sensorineural hearing i... |
OMIM:612513 |
| Diabetes Mellitus, Ketosis-Prone |
|
Ketoacidosis |
OMIM:612227 |
| Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Choreoathetosis, Progressive sensorineural hearing impairment, Increased serum lactate, Ataxia |
OMIM:301020 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Ataxia, Increased serum lactate, Optic atrophy, Choreoathetosis, Metabolic acidosis, Hyperlysinur... |
OMIM:616034 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Ataxia, Abnormal auditory evoked pot... |
OMIM:125250 |
| Branchiootorenal Syndrome 1 |
|
Renal malrotation, Mixed hearing impairment, Facial palsy, Unilateral renal agenesis, Dilatated i... |
OMIM:113650 |
| Johnson Neuroectodermal Syndrome |
|
Choanal atresia, Facial palsy, Bulbous nose, Anosmia, Protruding ear, Microtia, Atresia of the ex... |
ORPHA:2316 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, EEG abnormality, Self-injurious behavior, Low-set ears, Bruxism, Abnormal ... |
OMIM:618718 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed... |
ORPHA:103910 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Overweight, Vertigo, Obesity, Nephrocalcinosis, Hypernatriuria, Hyperprotei... |
ORPHA:90041 |
| Pendred Syndrome |
|
Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of th... |
ORPHA:705 |
| Trisomy 13 |
|
Sensorineural hearing impairment, Abnormality of the ureter, Hydrops fetalis, Optic atrophy, Abno... |
ORPHA:3378 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Increased serum lactate, Hyperglycinuria, Lact... |
OMIM:605711 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Increased serum lactate |
OMIM:617613 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Hypospadias, Increased serum lactate, Optic atrophy, Hyperammonemia, L... |
OMIM:618253 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements, Chorea |
OMIM:616939 |
| Cardiomyopathy, Dilated, 2C |
|
Increased serum lactate |
OMIM:618189 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Polyhydramnios, Increased serum lactate, Renal hypoplasia, Renal cyst, Lacti... |
OMIM:614922 |
| Tarp Syndrome |
|
Posteriorly rotated ears, Anteverted nares, Optic atrophy, Wide nasal bridge, Horseshoe kidney, P... |
OMIM:311900 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617270 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 4 |
|
Increased serum pyruvate, Increased urine alpha-ketoglutarate concentration, Ataxia, Increased se... |
OMIM:619224 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Increased susceptibility to fractur... |
OMIM:612287 |
| Combined Oxidative Phosphorylation Deficiency 43 |
|
Increased serum lactate |
OMIM:618851 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Dystonia, Hypospadias, Abnormal pinna morphology, Small for gestational age, Ataxia, Increased se... |
OMIM:615471 |
| Combined Oxidative Phosphorylation Deficiency 13 |
|
Decreased nerve conduction velocity, Increased serum lactate, Sensorineural hearing impairment, C... |
OMIM:614932 |
| Harlequin Ichthyosis |
|
Hearing abnormality, Self-injurious behavior, Depressed nasal ridge, Dehydration |
ORPHA:457 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Increased serum lactate, Severe lactic acidosis |
OMIM:616794 |
| Netherton Syndrome |
|
Aminoaciduria, Hydronephrosis, Dehydration, Ectopic kidney |
ORPHA:634 |
| Episodic Ataxia Type 4 |
|
Abnormal head movements, Vertigo, Ataxia |
ORPHA:79136 |
| Secondary Short Bowel Syndrome |
|
Aganglionic megacolon, Low plasma citrulline, Abnormal blood ion concentration, Dehydration, Weig... |
ORPHA:95427 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Elevated hemoglobin A1c, Abnormality of the sense of smell, Progressive hearing impairmen... |
OMIM:616113 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Pain insensitivity, Uplifted earlobe, Aggressive behavior, Self-mutilation, Micropenis, Macrotia,... |
ORPHA:364028 |
| Developmental And Epileptic Encephalopathy 58 |
|
Abnormal repetitive mannerisms, Optic atrophy, Hypsarrhythmia |
OMIM:617830 |
| Autosomal Agammaglobulinemia |
|
Chronic otitis media, External ear malformation, Failure to thrive, Dehydration |
ORPHA:33110 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Overfolded helix, Obesity, Hyposmia, Low-set ears, Vesicoureteral reflux, Micropenis, Pelvic kidn... |
OMIM:618653 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Proteinuria, Epistaxis, Hyperlipidemia, Stage 5 chronic kidney disease, Nep... |
ORPHA:79259 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Torticollis, Small for gestational age, Elevated circulating creatine kinase concentration, Ataxi... |
OMIM:619054 |
| Marburg Hemorrhagic Fever |
|
Renal insufficiency, Abnormality of acid-base homeostasis, Elevated circulating creatine kinase c... |
ORPHA:99826 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Impaired distal proprioception, Increased serum lactate, Tremor, Impaired vibrati... |
ORPHA:137898 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Decreased calvarial ossification, Vesicoureteral reflux, Arthrogryposis multipl... |
OMIM:618265 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Abnormal pinna morphology, Failure to thrive in infancy, Small for gestational age... |
OMIM:614104 |
| Huntington Disease-Like 3 |
|
Abnormal head movements, Urinary incontinence, Chorea, Progressive gait ataxia, Dystonia |
ORPHA:157946 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Posteriorly rotated ears, Ureteral hypoplasia, Polyhydramnios, Bladder trab... |
OMIM:614080 |
| Superficial Siderosis |
|
Ataxia, Partial anosmia, Impaired temperature sensation, Impaired pain sensation, Vertigo, Functi... |
ORPHA:247245 |
| Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... |
ORPHA:99845 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Urinary incontinence, Long nose, Self-biting, Abnormal repetitive mannerisms, Hyperactivity, Atax... |
OMIM:300912 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Anteverted nares, Small for gestational age, Repetitive compulsive behavior, Wide ... |
ORPHA:352490 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Respiratory alkalosis, Ketonuria, Increased serum lactate... |
OMIM:615751 |
| Desmoid Tumor |
|
Hydronephrosis, Limitation of joint mobility, Osteolysis, Abnormality of the upper urinary tract |
ORPHA:873 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Thickened helices, Anteverted nares, Aggre... |
ORPHA:261494 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... |
ORPHA:405 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Lactic acidosis, Increased serum lactate, Organic aciduria |
OMIM:614741 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Gait ataxia, Lactic acidosis, Aminoaciduria, Proximal tubulopathy, Severe ... |
OMIM:612075 |
| Orthostatic Hypotension 1 |
|
Orthostatic hypotension, Increased blood urea nitrogen, Nasal congestion, Hypomagnesemia, Nocturia |
OMIM:223360 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Dehydration, Increased circulating r... |
ORPHA:90791 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Absence of renal corticomedullary differentiation, Multiple small medullary ... |
OMIM:263200 |
| Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Anosmia, Hearing impairment |
OMIM:615267 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Posteriorly rotated ears, Prominent nasal bridge, Underdeveloped nasal alae,... |
ORPHA:2083 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased serum lactate |
ORPHA:457050 |
| Dihydropyrimidinase Deficiency |
|
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Meta... |
OMIM:222748 |
| Aural Atresia, Congenital |
|
Conductive hearing impairment, Hyposmia, Atresia of the external auditory canal |
OMIM:607842 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Ataxia, Bulbous nose, Limb ataxia, Dysphagia, Self-injurious behavior, Attention deficit hyperact... |
OMIM:617695 |
| Diarrhea 12, With Microvillus Atrophy |
|
Metabolic acidosis, Osteopenia |
OMIM:619445 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
| Trisomy 8P |
|
Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Fetal pyelectasis, Recurrent ... |
ORPHA:264450 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Failure to thrive in infancy, Anteverted nares, Depressed nasal bridge, Ren... |
ORPHA:819 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Proteinuria, Abnormality of the kidney, Postprandial hyperlactemia, Osteoporosis, Int... |
ORPHA:369 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Ataxia, Pericardial effusion, Increased serum lactate, Optic atrophy, Gait ataxia, Elevated urine... |
OMIM:620089 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Tremor, Focal dystonia, Dysphagia, Jerky head movements |
ORPHA:240103 |
| Arthrogryposis Multiplex Congenita 5 |
|
Optic disc pallor, Anteverted nares, Polyhydramnios, Wide nasal bridge, Hand tremor, Prominent an... |
OMIM:618947 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Polyhydramnios, Wide nasal bridge, Nephrocalcinosis, Short nose, Failure to thrive |
OMIM:618005 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Increased urine succinate level, Increased serum lactate, Decreased plasma free carnitine, Metabo... |
OMIM:619048 |
| Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Increased serum lactate, Lactic acidosis, Stiff neck |
OMIM:618230 |
| Galactosemia I |
|
Increased level of galactitol in plasma, Metabolic acidosis, Aminoaciduria, Albuminuria, Galactos... |
OMIM:230400 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Hyperkale... |
ORPHA:427 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... |
OMIM:601455 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Renal insufficiency, Small for gestational age, Increased serum lactate... |
OMIM:619147 |
| Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Increased serum lactate |
ORPHA:320360 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Ataxia, Increased serum lactate, Sensorineural hearing impairment, Dystonia, Hearing impairment |
OMIM:616684 |
| Acute Peripheral Arterial Occlusion |
|
Acidosis |
ORPHA:90064 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Cachexia, Renal salt wasting, Acidosis, Hyperkalemia, Abnorma... |
ORPHA:275761 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hyperactivity, Depressed nasal bridge, Nonimmune hydrops fetalis, Ectopic kidney, Lymphedema, Con... |
OMIM:235510 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Lactic acidosis, Increased serum lactate, Metabolic acidosis |
OMIM:614096 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Prominent nose, Anteverted ears, Aggressive behavior, Macrotia, Abnormal repetitiv... |
OMIM:615541 |
| 7Q31 Microdeletion Syndrome |
|
Hyperactivity, Torticollis, Wide nasal ridge, Prominent nose, Hypoplasia of the cochlea, Enuresis... |
ORPHA:251061 |
| Shigellosis |
|
Hyponatremia, Failure to thrive in infancy, Anorexia, Hemolytic-uremic syndrome, Urethritis, Abno... |
ORPHA:810 |
| 2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Prominent nasal bridge, Polyhydramnios, Facial palsy, Optic nerve h... |
ORPHA:261349 |
| Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Multifocal epileptiform discharges, EEG with generalized epileptiform discharges, EEG abnormality... |
ORPHA:488613 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Generalized dystonia, Ataxia, EEG with abnormally slow frequencies, Increased serum lactate, Chor... |
ORPHA:70472 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Lactic acidosis, Dystonia, Je... |
OMIM:245348 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Elevated lactate:pyruvate ratio, Overweight, Increased serum lactate, Bulimia, Optic atrophy, Obe... |
OMIM:614651 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Increased serum lactate, Myoglobinuria, Renal insufficiency |
ORPHA:2364 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Nephrocalcinosis, Tympanosclerosis |
OMIM:240300 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Ataxia, Elevated circulating creatine kinase concentration, Oral-pharyngeal dysphagia,... |
OMIM:616878 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hyposmia, Micropenis, Anosmia, Obesity |
OMIM:610628 |
| Dilated Cardiomyopathy With Ataxia |
|
Hypoplasia of penis, Ataxia, Increased serum lactate, Repetitive compulsive behavior, Optic atrop... |
ORPHA:66634 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Weight loss |
OMIM:188580 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Eunuchoid habitus, Ataxia, Unilateral renal agenesis, Anosmia, Micropenis |
OMIM:308750 |
| Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Increased serum lactate, Proximal renal tubular acidosis, Lactic acidos... |
OMIM:266150 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Renal salt wasting, Acidosis, Hyperkalemia, Abnormal urine potassium concentration,... |
ORPHA:168558 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
EEG abnormality, Self-injurious behavior, Abnormal repetitive mannerisms, Dystonia |
OMIM:617820 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Limb dystonia, Small for gestational age, Polyhydramnios, Increased serum lactate, Sensorineural ... |
OMIM:619847 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Increased serum lactate |
OMIM:617069 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Hypercalciuria, Increased susceptib... |
OMIM:612286 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Renal salt wasting, Long penis, Hyperkalemia, Dehydration, Elevated urinary epineph... |
ORPHA:90794 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Mixed respiratory and metabolic acidosis, Hyp... |
OMIM:145600 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Impaired vibratory sensation, Pain insensitivity, Impaired temperature sensation, Hypoesthesia, S... |
OMIM:616488 |
| Campomelic Dysplasia |
|
Depressed nasal bridge, Abnormality of the sense of smell, Low-set ears, Hydronephrosis, Hearing ... |
ORPHA:140 |
| Chromosome 2Q37 Deletion Syndrome |
|
Pain insensitivity, Wide nose, Anteverted nares, Depressed nasal bridge, Hyperactivity, Broad nas... |
OMIM:600430 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Renal salt wasting, Acidosis, Hyperkalemia, Abnormal urine potassium concentration,... |
ORPHA:289548 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Renal salt wasting, Long penis, Hypokalemia, Increased urinary 11-deoxycorticosterone level, Decr... |
ORPHA:90795 |
| Isolated Atp Synthase Deficiency |
|
Ataxia, Sensorineural hearing impairment, Optic atrophy, Renal hypoplasia, Hyperammonemia, Lactic... |
ORPHA:254913 |
| Combined Oxidative Phosphorylation Deficiency 48 |
|
Increased serum lactate, Lactic acidosis |
OMIM:619012 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Ataxia,... |
OMIM:607426 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Optic disc pallor, Elevated lactate:pyruvate ratio, Increased serum... |
OMIM:619737 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Eunuchoid habitus, Ataxia, Unilateral renal agenesis, Anosmia, Hyposmia, Micropenis |
OMIM:308700 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Pain insensitivity, Hypospadias, Ataxia, Anteverted nares, Depressed nasal bridge, Prominent nasa... |
OMIM:300260 |
| Ocular Motor Apraxia |
|
Jerky head movements, Nephronophthisis |
OMIM:257550 |
| Spinocerebellar Ataxia With Epilepsy |
|
Increased serum lactate, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar at... |
ORPHA:254881 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hypernatremic dehydration, Failure to thrive, Hyperkalemia |
OMIM:143860 |
| Sengers Syndrome |
|
Osteopenia, Increased serum lactate, Lactic acidosis, 3-Methylglutaconic aciduria, Exercise-induc... |
OMIM:212350 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Dystonia, Ataxia, Aggressive behavior, Tremor, Anosmia, Distal sensory impairment, D... |
OMIM:606693 |
| 8Q21.11 Microdeletion Syndrome |
|
Hypoplasia of penis, Wide nose, Underdeveloped nasal alae, Abnormality of the sense of smell, Low... |
ORPHA:284160 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Increased serum lactate |
OMIM:300816 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Spastic ataxia, Failure to thrive, Hyperglutamatemia, Generalized dystonia, Dystonia, Increased s... |
OMIM:620358 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Kury-Isidor Syndrome |
|
Anteverted nares, Attention deficit hyperactivity disorder, Low-set ears, Recurrent otitis media,... |
OMIM:619762 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate |
OMIM:612016 |
| Diabetic Embryopathy |
|
Low-set, posteriorly rotated ears, Ureteral duplication, Renal hypoplasia/aplasia, Microtia, Micr... |
ORPHA:1926 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Renal sod... |
ORPHA:556037 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Abnormal pinna morphology, Edema, Polyhydramnios, Elevated 8-dehydrocholesterol, Elevated 8(9)-ch... |
OMIM:302960 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Ataxia, Increased serum lactate, Sensorineural hearing impairment... |
OMIM:220110 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Hypokalemia, Micropenis, Failure to thrive, Increased urinary 11-deoxycorticosterone... |
ORPHA:90793 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Sensorineural hearing impairment, Anosmia |
OMIM:612370 |
| Paganini-Miozzo Syndrome |
|
Elevated lactate:pyruvate ratio, Posteriorly rotated ears, Urinary incontinence, Increased serum ... |
OMIM:301025 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Abnormal repetitive mannerisms |
OMIM:606053 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Hyposmia, Micropenis, Anosmia, Bifid nose |
OMIM:614838 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Nephrocalcinosis |
OMIM:614473 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Low-set ears, Overfol... |
OMIM:619092 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Dystonia, Increased serum lactate, Tremor, Optic atrophy, Horseshoe kidney, Choreoathetosis, Lact... |
OMIM:617664 |
| Chromosome Xq21 Deletion Syndrome |
|
Obesity, Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete ... |
OMIM:303110 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Increased serum lactate |
OMIM:617917 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Elevated lactate:pyruvate ratio, Polyhydramnios, Optic atrophy, Lactic acidosis, Metabolic acidos... |
OMIM:615330 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Anteverted nares, Depressed nasal... |
OMIM:614105 |
| Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Wide nose, Prominent nose, Urethral stenosis, Polycystic kid... |
ORPHA:261290 |
| Dend Syndrome |
|
Anteverted nares, Elevated hemoglobin A1c, Dehydration, Hypsarrhythmia, Thickened ears, Short nose |
ORPHA:79134 |
| Acute Monoblastic/Monocytic Leukemia |
|
Anorexia, Periorbital edema, Oliguria, Weight loss, Progressive hearing impairment |
ORPHA:514 |
| Leber Congenital Amaurosis 10 |
|
Hyposmia |
OMIM:611755 |
| Coffin-Siris Syndrome 7 |
|
Wide nose, Hyperactivity, Posteriorly rotated ears, Thick nasal alae, Polyhydramnios, Anteverted ... |
OMIM:618027 |
| Toxic Epidermal Necrolysis |
|
Renal insufficiency, Dysuria, Abnormality of the urethra, Weight loss, Dysphagia, Polydipsia |
ORPHA:537 |
| Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
| Distal Triplication 15Q |
|
Abnormality of the kidney, Large for gestational age, Sensorineural hearing impairment, Cupped ea... |
ORPHA:314588 |
| Hydroxykynureninuria |
|
Abnormal circulating tryptophan concentration, Congenital sensorineural hearing impairment, Metab... |
ORPHA:79155 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Hypospadias, Posteriorly rotated ears, Anteverted nares, Sensorineural hearing... |
OMIM:214100 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Abnormal pinna morphology, Elevated circulating creatine kinase concentration, Depressed nasal br... |
ORPHA:26791 |
| Trisomy 1Q |
|
Multicystic kidney dysplasia, Wide nose, Depressed nasal bridge, Polyhydramnios, Increased nuchal... |
ORPHA:261344 |
| Tetraploidy |
|
Hypoplasia of the ear cartilage, Convex nasal ridge, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:3305 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Lactic acidosis, Increased serum lactate |
OMIM:616198 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased serum lactate, Lacticaciduria, Hyperglycinemia |
OMIM:619063 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive mannerisms |
OMIM:619470 |
| Glutaric Acidemia Type 3 |
|
Ketonuria, Impulsivity, Ketoacidosis, Glutaric aciduria, Abnormality of circulating enzyme level,... |
ORPHA:35706 |
| Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
| Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Periorbital edema, Tremo... |
ORPHA:904 |
| Williams-Beuren Syndrome |
|
Nephrocalcinosis, Vesicoureteral reflux, Micropenis, Pelvic kidney, Anteverted nares, Depressed n... |
OMIM:194050 |
| Holoprosencephaly |
|
Hyponatremia, Hypoplasia of penis, Aplasia/Hypoplasia involving the nose, Proteinuria, Failure to... |
ORPHA:2162 |
| Generalized Arterial Calcification Of Infancy |
|
Stapes ankylosis, Hyperphosphaturia, Mixed hearing impairment, Calcification of the auricular car... |
ORPHA:51608 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Failure to thrive, Proteinuria, H... |
OMIM:277400 |
| Combined Oxidative Phosphorylation Deficiency 1 |
|
Elevated lactate:pyruvate ratio, Increased serum lactate, Metabolic acidosis |
OMIM:609060 |
| Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Dystonia, Impulsivity, Spastic/hyperactive bladder, Weight loss, Agitation, Dysph... |
ORPHA:411602 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Posteriorly rotated ears, Failure to thrive in infancy, Antever... |
OMIM:611209 |
| Cri-Du-Chat Syndrome |
|
Overfriendliness, Hyperactivity, Hypospadias, Abnormality of the kidney, Abnormal pinna morpholog... |
OMIM:123450 |
| Zellweger Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Depressed nasal bridge, External ear malformation, Sen... |
ORPHA:912 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Urinary incontinence, Aggressive behavior, Inappropriate behavior, Disinhibition, D... |
OMIM:600795 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Limb dystonia, EEG with burst suppression, Hypsarrhythmia, Ureteropelvic junction obstruction, Mo... |
OMIM:616973 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Restlessness, Ataxia, Increased serum lactate, Athetosis, Dystonia |
OMIM:615159 |
| Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Increased serum lactate, Lactic acidosis |
OMIM:618236 |
| Alternating Hemiplegia Of Childhood |
|
Dystonia, Ataxia, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsivity, Chorea, ... |
ORPHA:2131 |
| Leigh Syndrome |
|
Chorea, Lactic acidosis, Choreoathetosis, Complex organic aciduria, Ataxia, Hypsarrhythmia, Renal... |
ORPHA:506 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
| Pendred Syndrome |
|
Abnormal vestibular function, Increased circulating thyroglobulin level, Cochlear malformation, C... |
OMIM:274600 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Increased serum lactate, Chorea, Paroxysmal choreoathetosis, Lingual dystonia, Motor tics |
OMIM:500003 |
| Liddle Syndrome 2 |
|
Metabolic alkalosis, Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
| Liddle Syndrome 3 |
|
Metabolic alkalosis, Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Bulbous nose, Hypokalemia, Low-set ears |
OMIM:170390 |
| Chromosome 5P13 Duplication Syndrome |
|
Posteriorly rotated ears, Small for gestational age, Bulbous nose, Wide nasal bridge, Self-injuri... |
OMIM:613174 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Elevated circulating creatinine concentration, Increased blood urea nitr... |
OMIM:223900 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Small for gestational age, Nonimmune hydrops fetalis, Increased serum lactate, Hematuria, EEG abn... |
OMIM:617021 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Short-segment ag... |
OMIM:609136 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Ankle flexion contracture, Ketoacidosis, Lactic acidosis, Elevated serum anion gap, 3-Methylgluta... |
OMIM:618120 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Hyperactivity, Unilateral renal agenesis, Broad nasal tip, Agg... |
ORPHA:3306 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Nephrolithiasis, Wide nasal b... |
OMIM:268310 |
| Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
| Endove Syndrome, Limb-Brain Type |
|
Joint laxity, Neurogenic bladder, Osteomyelitis, Recurrent urinary tract infections, Hydronephrosis |
OMIM:619218 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lactic acidosis, Increased serum lactate, Metabolic acidosis, Severe lactic acidosis |
OMIM:618228 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Dehydration |
OMIM:251850 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, Metabolic acidosis,... |
OMIM:246450 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Ataxia, Elevated circulating creatine kinase concentration, Increased serum lactate, Hyperammonem... |
OMIM:618416 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Lactic acidosis, Metabolic acidosis, Ketoacidosis |
OMIM:246900 |
| Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
| Adenosine Monophosphate Deaminase Deficiency |
|
Increased serum lactate |
ORPHA:45 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Hydronephrosis, Hearing impairment |
OMIM:620327 |
| Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... |
OMIM:300614 |
| Noonan Syndrome 4 |
|
Ureteral duplication, Posteriorly rotated ears, Depressed nasal bridge, Polyhydramnios, Large for... |
OMIM:610733 |
| Koolen-De Vries Syndrome |
|
Ureteral duplication, Overfriendliness, Hypospadias, Prominent nasal bridge, Underdeveloped nasal... |
ORPHA:96169 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Increased serum lactate, Recurrent upper respiratory tract infections, Hyperammonemia, Metabolic ... |
OMIM:620137 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Unilateral renal agenesis, Attention deficit hyperactivity disorder, Micropenis, Macrotia, Abnorm... |
OMIM:618504 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Polyhydramnios, Lymphedema, Wide nasal bridge, Hypocalcemia, Low-set ears, Micropenis, Ascites, H... |
OMIM:235255 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Increased serum pyruvate, Ataxia, Optic atrophy, Lactic acidosis, Metabolic acidosis, Dystonia, H... |
OMIM:245349 |
| Combined Oxidative Phosphorylation Defect Type 13 |
|
Decreased nerve conduction velocity, Increased serum lactate, Sensorineural hearing impairment, C... |
ORPHA:319514 |
| Hydrolethalus |
|
Low-set, posteriorly rotated ears, Polyhydramnios, Low-set ears, Abnormality of the sense of smell |
ORPHA:2189 |
| Addison Disease |
|
Hyponatremia, Orthostatic hypotension, Salt craving, Hypercalcemia, Anorexia, Renal salt wasting,... |
ORPHA:85138 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Hypospadias, Anteverted nares, Prominent nasal bridge, Sensorineural hearing impai... |
OMIM:617751 |
| Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1 |
|
Optic disc pallor, Pain insensitivity, Restlessness, Elevated circulating hexacosanoic acid conce... |
OMIM:614388 |
| Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anteverted nares, Prominent nasal bridge, Broad nasal tip, Prominent ear helix, Bulbous nose, Mul... |
ORPHA:411986 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Dystonia, Ataxia, Increased serum lactate, Optic atrophy, Lactic acidosis, Metabolic acidosis, Dy... |
OMIM:618226 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Overweight, Tremor, Micropenis, Macrotia, Abnormal repetitive mannerisms, Self-mutilation |
ORPHA:457240 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Lactic acidosis |
OMIM:614111 |
| Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Hypospadias, Ataxia, Abnormal eating behavior, Sensorineural hearing impairment, C... |
ORPHA:209905 |
| Floating-Harbor Syndrome |
|
Hypospadias, Posteriorly rotated ears, Prominent nasal bridge, Prominent nose, Underdeveloped nas... |
OMIM:136140 |
| Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... |
ORPHA:1834 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased serum lactate |
ORPHA:238329 |
| Transketolase Deficiency |
|
Increased level of ribose in urine, Elevated circulating ribitol concentration, Renal cyst, Self-... |
ORPHA:488618 |
| Toluene Embryopathy |
|
Abnormal localization of kidney, Protruding ear, Low-set ears, Short nose, Hydronephrosis |
ORPHA:1920 |
| Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Proteinuria, Glomerulonephritis, Epistaxis, Chronic kidney disease, Hyperkalemia, Elevate... |
ORPHA:340 |
| Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of the sense of smell, Oligohydramnios, Renal hypo... |
ORPHA:958 |
| Perrault Syndrome 5 |
|
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Increased s... |
OMIM:616138 |
| Mesomelia-Synostoses Syndrome |
|
Bulbous nose, Convex nasal ridge, Hydronephrosis, Hearing impairment |
ORPHA:2496 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Impaired pain sensation, Underdeveloped nasal alae, Increased nuchal translucency, Wide nasal bri... |
ORPHA:453499 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Ketonuria, Ataxia, Elevated circulating creatine kinase concentration, Dystonia, Elevated circula... |
ORPHA:480864 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Increased serum lactate, Flexion contracture, Renal hypoplasia, Lacticaciduria, Aminoaciduria, 3-... |
OMIM:604273 |
| Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated circulating creatine kinase concentration, Increased serum lactate, EEG with burst suppr... |
OMIM:617713 |
| Developmental And Epileptic Encephalopathy 64 |
|
Paroxysmal dystonia, Dystonia, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Chorea,... |
OMIM:618004 |
| Congenital Short Bowel Syndrome |
|
Metabolic acidosis, Failure to thrive, Dehydration |
OMIM:615237 |
| Microphthalmia, Lenz Type |
|
Low-set, posteriorly rotated ears, Hydroureter, Hypospadias, Renal hypoplasia/aplasia, External e... |
ORPHA:568 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Increased serum lactate, Chorea, Multifocal epileptiform discharges, Hyperammonemia, Opisthotonus... |
OMIM:616672 |
| Takenouchi-Kosaki Syndrome |
|
Hypospadias, Posteriorly rotated ears, Unilateral renal agenesis, Lymphedema, Ataxia, Sensorineur... |
OMIM:616737 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Conjugated hyperbilirubinemia, Protruding ear, Hypoalbuminemia, Neonatal d... |
OMIM:619534 |
| 7Q11.23 Microduplication Syndrome |
|
Dysmetria, Abnormal optic disc morphology, Chronic otitis media, Abnormal repetitive mannerisms, ... |
ORPHA:96121 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Renal salt wasting |
OMIM:614736 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Depressed nasal bridge, Anteverted nares, Increased serum lactate, Bulbous nose, Lactic acidosis,... |
OMIM:617228 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Trem... |
ORPHA:206443 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Metabolic acidosis, Acidosis |
OMIM:618235 |
| Leukodystrophy, Hypomyelinating, 4 |
|
Choreoathetosis, Increased serum lactate, Head titubation, Ethylmalonic aciduria |
OMIM:612233 |
| Foxg1 Syndrome |
|
Dystonia, Bruxism, Choreoathetosis, Decreased body weight, Abnormal repetitive mannerisms, Paroxy... |
ORPHA:561854 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of smell |
ORPHA:1135 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Hypospadias, Anteverted nares, Prominent nasal bridge, Congenital sensorineural hearing impairmen... |
ORPHA:500159 |
| New-Onset Refractory Status Epilepticus |
|
Interictal EEG abnormality, Abnormal head movements, Multifocal epileptiform discharges, EEG with... |
ORPHA:363558 |
| Ritscher-Schinzel Syndrome 1 |
|
Depressed nasal bridge, Hypospadias, Hydronephrosis, Low-set ears |
OMIM:220210 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Sensorineural hearing impairment, Decreased serum zinc, Hydronephro... |
ORPHA:541423 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Papilledema, Elevated circulating creatinine concentration, Hyper... |
OMIM:620366 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Myoglobinuria, Elevated creatine kinase after exercise, Acute kidney injury, Hyperkalemia |
ORPHA:57 |
| Charge Syndrome |
|
Polyhydramnios, Hypoplasia of the semicircular canal, Compulsive behaviors, Vesicoureteral reflux... |
ORPHA:138 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Lactic acidosis, Renal Fanconi syndrome, Elevated h... |
ORPHA:53693 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Increased serum lactate, Tremor, Dysmetria, Methylmalonic aciduria, Lactic acidosis, Oligohydramnios |
OMIM:615578 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Failure to thrive, Abnormal repetitive mannerisms, Broad nasal tip |
OMIM:617393 |
| Radio-Tartaglia Syndrome |
|
Ataxia, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Aggressive behavior, Im... |
OMIM:619312 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Metabolic acidosis |
OMIM:618224 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
EEG with polyspike wave complexes, Ataxia, Prominent nasal bridge, Aganglionic megacolon, Bulbous... |
ORPHA:247262 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Increased serum lactate, Dystonia, Hearing impairment |
OMIM:616277 |
| Autosomal Recessive Spastic Paraplegia Type 20 |
|
Impaired vibratory sensation, Dysuria, Prominent nose, Low-set ears, Dysphagia, Abnormal nostril ... |
ORPHA:101000 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Increased serum pyruvate, Facial palsy, Elevated circulating creatine kinase concentration, Incre... |
OMIM:500009 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Small for gestational age, Increased serum lactate, Hyperammonemia, Met... |
OMIM:615160 |
| Zttk Syndrome |
|
Depressed nasal bridge, Polyuria, Unilateral renal agenesis, Optic atrophy, Wide nasal bridge, Ho... |
OMIM:617140 |
| Branchio-Oculo-Facial Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Renal agenesis, Abnormal pinna m... |
ORPHA:1297 |
| Monosomy 22Q13.3 |
|
Hyperactivity, Palpebral edema, Lymphedema, Impaired pain sensation, Hair-pulling, Bulbous nose, ... |
ORPHA:48652 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Small for gestational age, Anteverted nares, Asymmetry of the ears, Prominent nose... |
OMIM:617796 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Anteverted nares, Depressed nasal bridge, Conjugated hyperbilirubinemia, Increased serum lactate,... |
OMIM:618528 |
| Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Neonatal death, Stage 5 chronic kidney disease, Renal cyst |
OMIM:613390 |
| Al-Gazali Syndrome |
|
Osteopenia, Proximal radio-ulnar synostosis, Recurrent fractures, Wrist flexion contracture, Hydr... |
OMIM:609465 |
| Enteric Anendocrinosis |
|
Hyperchloremic metabolic acidosis, Dehydration |
ORPHA:83620 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Increased serum lactate, Ketonuria, Metabolic acidosis, Renal hypoplasia |
OMIM:619053 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms, Self-injurious behavior, Optic atrophy, Wide nasal bridge |
OMIM:619690 |
| Leigh Syndrome |
|
Ataxia, Increased serum lactate, Sensorineural hearing impairment, Optic atrophy, Lactic acidosis... |
OMIM:256000 |
| Lassa Fever |
|
Facial edema, Oliguria, Dysphagia, Hearing impairment |
ORPHA:99824 |
| Ogden Syndrome |
|
Abnormal head movements, Torticollis, Underdeveloped nasal alae, Short columella, Low-set ears, M... |
ORPHA:276432 |
| Phelan-Mcdermid Syndrome |
|
Palpebral edema, Abnormality of the kidney, Lymphedema, Impaired pain sensation, Aggressive behav... |
OMIM:606232 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Anteverted nares, Broad nasal tip, Nephrocalcinosis, Concave nasal ridge, Narrow naris, Low-set e... |
OMIM:617402 |
| Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Hypophosphatemic rickets,... |
OMIM:618913 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... |
ORPHA:447 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, External ear malformation, Dysesthesia, Functional abnormality... |
ORPHA:2953 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Recurrent urinary tract infections, Anorexia, Renal salt wasting, Hyperkalemia, Wei... |
ORPHA:361 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Aggressive behavior, Bulbous nose, Wide nasal bridge, Attention deficit hyperactiv... |
OMIM:620292 |
| Zaki Syndrome |
|
Wide nose, Anteverted nares, Renal agenesis, Cupped ear, Wide nasal bridge, Hydronephrosis |
OMIM:619648 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Elevated circulating creatine kinase concentration, Polyhydramnios, Abnormality ... |
ORPHA:158684 |
| Pfeiffer Syndrome Type 3 |
|
Depressed nasal bridge, Choanal atresia, Horseshoe kidney, Low-set ears, Vesicoureteral reflux, S... |
ORPHA:93260 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Sensorineural hearing impairment, Obesity, Choreoathetosis, Attenti... |
ORPHA:261197 |
| Rauch-Steindl Syndrome |
|
Attached earlobe, Hyperactivity, Depressed nasal bridge, Aggressive behavior, Prominent crus of h... |
OMIM:619695 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Polyhydramnios, Broad nasal tip, Abnormal renal morphology, Hypocalcemia, Low-set ears, Micropeni... |
ORPHA:1655 |
| Trisomy 10P |
|
Posteriorly rotated ears, Abnormality of the kidney, Abnormal auditory evoked potentials, Small f... |
ORPHA:171929 |
| Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Lactic acidosis, Increased serum lactate |
OMIM:618239 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Elevated circulating creatine kinase concentration, Metabolic alkalosis, Increased serum lactate,... |
OMIM:616239 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Increased serum lactate, Tremor, Optic atrophy, Dystonia |
ORPHA:330050 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Recurrent urinary tract infections, Hypospadias, Depressed nasal bridge, Bulbous nose, Horseshoe ... |
OMIM:619103 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Tremor, Ataxia, Hydronephrosis |
OMIM:618060 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Depressed nasal bridge, Ataxia, Posteriorly rotated ears, Aggressive behavior, Bul... |
OMIM:618430 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Bulbo... |
OMIM:618454 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Failure to thrive, Hypospadias, Small for gestational age, Unilateral renal ag... |
ORPHA:464311 |
| Mosaic Trisomy 8 |
|
Wide nose, Abnormal pinna morphology, Anteverted nares, Broad nasal tip, Protruding ear, Abnormal... |
ORPHA:96061 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615282 |
| Coffin-Siris Syndrome 6 |
|
Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Tics, Low-set ears, Attention ... |
OMIM:617808 |
| Cardiofaciocutaneous Syndrome 1 |
|
Posteriorly rotated ears, Anteverted nares, Polyhydramnios, Depressed nasal bridge, Bulbous nose,... |
OMIM:115150 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Failure to thrive, Elevated circulating creatine kinase concentration, Cranial nerve compression,... |
ORPHA:2785 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Prominent nasal bridge, Hypsarrhythmia, Macrotia, Abnormal repetitive mannerisms, Hearing impairment |
OMIM:619877 |
| Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Failure to thrive, Small for gestational age, Prominent nasal... |
OMIM:610443 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Increased serum pyruvate, Increased serum lactate, Lactic acidosis, EEG abnormality, Dystonia, Hy... |
OMIM:617668 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Recurrent urinary tract infections, Wide nose, Posteriorly rotated ears, Hypospadias, Anteverted ... |
OMIM:619293 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Neurogenic bladder, Wide nose, Elevated circulating creatine kinase concentration, Sensorineural ... |
OMIM:608779 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Elevated lactate:pyruvate ratio, Stress/infection-induced lactic acidosis, Increased serum lactat... |
OMIM:252011 |
| Mitochondrial Dna Depletion Syndrome 17 |
|
Acidosis, Chorea, Low plasma citrulline, Hyperammonemia |
OMIM:618567 |
| Pontocerebellar Hypoplasia, Type 9 |
|
Abnormal pinna morphology, Increased serum lactate, Optic atrophy, Dysphagia, Dystonia |
OMIM:615809 |
| Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms, Hypsarrhythmia |
OMIM:616341 |
| Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Impulsivity, Aggressive behavior, Chorea, Wide nasal bridge, Athetosis, Dysphagia, Microp... |
OMIM:619435 |
| Tetrasomy 15Q26 |
|
Low-set ears, Cupped ear, Hydronephrosis, Horseshoe kidney |
OMIM:614846 |
| Micro Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Anteverted nares, Optic atrophy, Wide nas... |
ORPHA:2510 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... |
OMIM:600501 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Wide nasal bridge, Short nose, Failure to thrive, Hydronephrosis, Stereot... |
OMIM:619179 |
| Leber Optic Atrophy And Dystonia |
|
Increased serum lactate, Optic atrophy, Dysphagia, Athetosis, Dystonia |
OMIM:500001 |
| Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Chorea, Multifocal epileptiform discharges, EEG with spike-wave complexes (>3.5 Hz), Chor... |
OMIM:619317 |
| 48,Xxyy Syndrome |
|
Hypoplasia of penis, Ataxia, Tremor, Obesity, Attention deficit hyperactivity disorder, Chronic o... |
ORPHA:10 |
| Autism, Susceptibility To, 3 |
|
Restrictive behavior, Ketonuria, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhe... |
OMIM:608049 |
| Vipoma |
|
Hypercalcemia, Anorexia, Dehydration, Weight loss, Hypokalemia, Ascites |
ORPHA:97282 |
| Raine Syndrome |
|
Mixed hearing impairment, Hydroureter, Posteriorly rotated ears, Abnormal pinna morphology, Depre... |
OMIM:259775 |
| Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Episodic ketoacidosis |
OMIM:245050 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Low-set, posteriorly rotated ears, Prominent nasal bridge, Broad nasal tip, Optic atrophy, Dyston... |
ORPHA:457193 |
| Carpenter Syndrome 1 |
|
Hydroureter, Abnormal pinna morphology, Depressed nasal bridge, Sensorineural hearing impairment,... |
OMIM:201000 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Renal agenesis, Hypospadias, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, ... |
OMIM:301040 |
| Immunodeficiency 87 And Autoimmunity |
|
Hypertriglyceridemia, Small for gestational age, Elevated circulating C-reactive protein concentr... |
OMIM:619573 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Ataxia, Optic atrophy, Renal tubular dysfunction, Lactic acidosis... |
ORPHA:436271 |
| Pyridoxal Phosphate-Responsive Seizures |
|
Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentration, Abnormal... |
ORPHA:79096 |
| Kleefstra Syndrome 1 |
|
Abnormal pinna morphology, Hypospadias, Anteverted nares, Aggressive behavior, Abnormal renal mor... |
OMIM:610253 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Anteverted nares, Elevated circulating alpha-fetoprotein concentration, Tremor, Incr... |
ORPHA:280633 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Micropenis, Anosmia |
OMIM:614880 |
| Shwachman-Diamond Syndrome 1 |
|
Nephrocalcinosis, Failure to thrive, Small for gestational age |
OMIM:260400 |
| Lethal Congenital Contracture Syndrome 2 |
|
Arthrogryposis multiplex congenita, Hydronephrosis |
OMIM:607598 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Metabolic acidosis, Lactic acidosis |
OMIM:610773 |
| Gorham-Stout Disease |
|
Torticollis, Edema, Pleural effusion, Abnormality of the internal auditory canal, Hearing impairment |
ORPHA:73 |
| Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Anteverted nares, Polyhydramnios, Broad nasal ... |
ORPHA:79500 |
| Congenital Disorder Of Deglycosylation 1 |
|
Restlessness, Pain insensitivity, Anteverted nares, Elevated circulating alpha-fetoprotein concen... |
OMIM:615273 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Increased serum lactate, Lactic acidosis, EEG abnormality, Aminoaciduria, Elevated hepatic iron c... |
OMIM:614946 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Abn... |
ORPHA:247815 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Renal agenesis, Partial anosmia, Total anosmia, Sensorineural hearing impairment, Micropenis |
ORPHA:2326 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Hydronephrosis, Low-set ears |
OMIM:300048 |
| Trisomy 20P |
|
Low-set, posteriorly rotated ears, Hypospadias, Abnormality of the kidney, Anteverted nares, Abno... |
ORPHA:261318 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Failure to thrive, Hyperactivity, Hypospadias, Small for gestational age, Unil... |
ORPHA:464306 |
| 4Q21 Microdeletion Syndrome |
|
Depressed nasal bridge, Tremor, Self-injurious behavior, Low-set ears, Abnormal repetitive manner... |
ORPHA:238750 |
| Baller-Gerold Syndrome |
|
Narrow nasal bridge, Failure to thrive in infancy, Prominent nasal bridge, Conductive hearing imp... |
ORPHA:1225 |
| Duane-Radial Ray Syndrome |
|
Renal malrotation, Abnormal nasopharynx morphology, Renal agenesis, Choanal atresia, Facial palsy... |
OMIM:607323 |
| Gabriele-De Vries Syndrome |
|
Dystonia, Posteriorly rotated ears, Broad nasal tip, Tremor, Low-set ears, Attention deficit hype... |
OMIM:617557 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Lactic acidosis, Increased serum lactate |
ORPHA:255182 |
| Familial Mediterranean Fever |
|
Proteinuria, Pedal edema, Nephrocalcinosis, Nephrotic syndrome, Nephropathy, Ascites |
ORPHA:342 |
| Childhood Absence Epilepsy |
|
Urinary incontinence, Punding, Attention deficit hyperactivity disorder, Jerky head movements, EE... |
ORPHA:64280 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased serum pyruvate, Sensorineural hearing impairment, Increased serum lactate, Ataxia |
ORPHA:1349 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Ketonuria, Ketoacidosis, Hyperglycinuria, Hyperammonemia, Opisthotonus, Met... |
OMIM:210210 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Ataxia, Optic atrop... |
OMIM:616881 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Multiple glomerular cysts, Ataxia, Dystonia, Increased serum lactate, Sensorineural hearing impai... |
ORPHA:255210 |
| Autism, Susceptibility To, X-Linked 2 |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:300495 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Hypokalemia, Metabolic alkalosis |
ORPHA:786 |
| Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Dystonia, Increased serum lactate, Head titubation, Hypsarrhythmia, Metabolic acidosis, Truncal a... |
ORPHA:88639 |
| Enamel-Renal Syndrome |
|
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... |
ORPHA:1031 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Depressed nasal bridge, Ataxia, Abnormal auditory evoked potentials, Sensorine... |
OMIM:619260 |
| Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Increased serum lactate, Metabolic acidosis |
OMIM:617290 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Aplasia/Hypoplasia involving the nose, Po... |
ORPHA:990 |
| Arthrogryposis, Distal, Type 2A |
|
Small for gestational age, Polyhydramnios, Abnormal auditory evoked potentials, Underdeveloped na... |
OMIM:193700 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Depressed nasal bridge, Abnormal pinna morphology, Sensorineural hearing impairment, Low-set ears... |
ORPHA:35173 |
| 3C Syndrome |
|
Hypoplasia of penis, Depressed nasal bridge, Hypospadias, Optic atrophy, Wide nasal bridge, Low-s... |
ORPHA:7 |
| Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Vesicoureteral reflux, Nephroblastoma, E... |
OMIM:130650 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Increased s... |
OMIM:619405 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Depressed nasal bridge, Overweight, Sensorineural hearing impairment, Head-banging, Metabolic aci... |
OMIM:619575 |
| Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Wide nose, Prominent nasal bridge, Prominent nose, Low-set ears, Hy... |
ORPHA:85201 |
| 1Q21.1 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Bulbous nose, Wide nasal bridge, Attention deficit hyperactivit... |
ORPHA:250989 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Overweight, Bulbous nose, Abnormal repetitive mannerisms, Dystonia |
ORPHA:280763 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia, Posteriorly rotated ears, Polyhydramnios, Increased serum l... |
OMIM:618598 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Ataxia, Urinary inco... |
ORPHA:206448 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormal nostril morphology, Hypoplasia of penis, Anosmia, Short nose |
ORPHA:1295 |
| Vacterl/Vater Association |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias... |
ORPHA:887 |
| Czeizel-Losonci Syndrome |
|
Low-set, posteriorly rotated ears, Ureteral agenesis, Abnormality of the urinary system, Congenit... |
ORPHA:2437 |
| Mitochondrial Dna Depletion Syndrome 19 |
|
Increased serum lactate, Hypospadias, Multifocal epileptiform discharges, Hearing impairment |
OMIM:618972 |
| Distal Deletion 12Q |
|
Hyperactivity, Failure to thrive in infancy, Anteverted nares, Ectopic kidney, Impaired pain sens... |
ORPHA:96149 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, Abnormal repetitive... |
OMIM:618917 |
| Lujo Hemorrhagic Fever |
|
Resting tremor, Renal insufficiency, Elevated circulating C-reactive protein concentration, Facia... |
ORPHA:319213 |
| Webb-Dattani Syndrome |
|
Neurogenic bladder, Obesity, Hyposthenuria, Vesicoureteral reflux, Hypernatremia, Hydronephrosis |
OMIM:615926 |
| Waardenburg Syndrome, Type 2E |
|
Aplasia of the semicircular canal, Sensorineural hearing impairment, Dilated vestibule of the inn... |
OMIM:611584 |
| Malonyl-Coa Decarboxylase Deficiency |
|
Lactic acidosis, Elevated urine suberic acid level, Metabolic acidosis, Methylmalonic aciduria |
OMIM:248360 |
| Glutaric Acidemia I |
|
Ketonuria, Glutaric aciduria, Opisthotonus, Choreoathetosis, Metabolic acidosis, Dystonia, Elevat... |
OMIM:231670 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Renal dysplasia, Posteriorly rotated ears, Depressed nasal bridge, Choanal atresia, Prominent nos... |
OMIM:300968 |
| 2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae... |
ORPHA:1001 |
| Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Epistaxis, Elevated circulat... |
ORPHA:900 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of penis, Ataxia, Polyphagia, Self-injurious behavior, Abnormal repetit... |
ORPHA:228402 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Prominent nose, Long nose, Gait ataxia, Microphallus, Micropenis, Macrotia, Abnorm... |
OMIM:300486 |
| Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Sensorineural hearing impairment, Op... |
ORPHA:1435 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia, Pleural effusion, Acute kidney... |
ORPHA:542323 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Increased serum lactate, Sensorineural hearing impairment, Optic atrophy, Lactic acidosis, 3-Meth... |
OMIM:618329 |
| Nelson Syndrome |
|
Increased urinary cortisol level, Hypokalemia, Optic nerve compression |
ORPHA:199244 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Recurrent urinary tract infections, EEG with focal spike waves, Posteriorly rotated ears, Ataxia,... |
OMIM:619229 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Sensorineural hearing impairment, Renal hypoplasia, Renal cyst, Dysphagia, ... |
OMIM:618460 |
| Hawkinsinuria |
|
Hypertyrosinemia, Restlessness, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, ... |
OMIM:140350 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Acute hyperammonemia, Ataxia, Hyperglutaminemia, Hyperammonemia, Agitation, Hyperalaninemia, Fail... |
ORPHA:927 |
| Young-Onset Parkinson Disease |
|
Restless legs, Impulsivity, Tremor, Agitation, Abnormal autonomic nervous system physiology, Dyst... |
ORPHA:2828 |
| Au-Kline Syndrome |
|
Wide nasal ridge, Prominent nasal bridge, Underdeveloped nasal alae, Bifid nasal tip, Sensorineur... |
OMIM:616580 |
| Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Depr... |
OMIM:614527 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Tem... |
ORPHA:1215 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Depressed nasal bridge, Aggressive behavior, Tremor, Bulbous nose, Wide nasal... |
OMIM:617061 |
| Gorlin Syndrome |
|
Wide nasal bridge, Abnormality of the sense of smell |
ORPHA:377 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Optic disc pallor, Optic neuropathy, Increased serum lactate, Optic atrophy, Choreoathetosis, Tru... |
OMIM:618249 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Elevated lactate:pyruvate ratio, Increased serum lactate, Stage 5 chronic kidney disease, Lactica... |
OMIM:618250 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Depressed nasal bridge, Anteverted nares, Low-set ears, Short nose, Abnormal repetitive mannerisms |
OMIM:613443 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Wide nose, Hydroureter, Small for gestational age, Depressed nasal bri... |
OMIM:300707 |
| Prune Belly Syndrome |
|
Hydroureter, Congenital posterior urethral valve, Hydronephrosis |
OMIM:100100 |
| Pseudohypoaldosteronism, Type Iia |
|
Hyperchloremic acidosis |
OMIM:145260 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Anteverted nares, Impulsivity, Wide nasal bridge, Abnormality of the urinary system, Attention de... |
ORPHA:96092 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Pseudoxanthoma Elasticum |
|
Nephrocalcinosis |
ORPHA:758 |
| Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Fail... |
ORPHA:2322 |
| Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
| Intellectual Disability, Buenos-Aires Type |
|
Macrotia, Hydronephrosis, Wide nasal bridge |
ORPHA:3079 |
| Rett Syndrome |
|
Increased serum pyruvate, Increased serum lactate, Hyperammonemia, EEG abnormality, Agitation, Ab... |
ORPHA:778 |
| White-Kernohan Syndrome |
|
Hydroureter, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Obesity, Horses... |
OMIM:619426 |
| Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Tremor, Vertigo, Weight loss, Hypokalemia |
ORPHA:91347 |
| Immunodeficiency 44 |
|
Increased serum lactate |
OMIM:616636 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Neurogenic bladder, Dystonia, Ataxia, Urinary incontinence, Elevated circulating creatine kinase ... |
ORPHA:496641 |
| Congenital Tufting Enteropathy |
|
Choanal atresia, Optic disc coloboma, Dehydration, Weight loss, Failure to thrive |
ORPHA:92050 |
| Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Hydronephrosis, Hearing impairment |
ORPHA:2484 |
| White-Sutton Syndrome |
|
Duplicated collecting system, Hyperactivity, Posteriorly rotated ears, Depressed nasal bridge, Op... |
OMIM:616364 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Anteverted nares, Abnormality of the kid... |
ORPHA:847 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Ataxia, Impulsivity, Aggressive behavior, Tongue thrusting, Gait ataxia, Choreoathetosis, Opistho... |
OMIM:619580 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Aggressive behavior, Cupped ear, Renal hypoplasia, Self-injurious behavior, Abnormal... |
OMIM:618914 |
| Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Polyhydramnios, Bulbous nose, Hydrops fetalis, Horseshoe ki... |
ORPHA:99776 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney ... |
ORPHA:2237 |
| Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Anorexia, Vertigo, Hyperkalemia, Weight los... |
ORPHA:199299 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Hyposmia, Micropenis, Anosmia |
OMIM:614897 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Hypercalcemia, Aggressive behavior, Tremor, Gait ataxia, Compulsive behavio... |
ORPHA:476126 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... |
ORPHA:3240 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Increased serum lactate, Metabolic acidosis |
OMIM:618225 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Decreased motor nerve conduction velocity, Axial dystonia, Anteverted nares, Failure to thrive in... |
OMIM:619026 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Anteverted nares, Hearing impairment, Bruxism, Abnormal repetitive mannerisms, Oligohydramnios |
OMIM:616351 |
| Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Posteriorly rotated ears, Anteverted nares, Distal urethral duplica... |
OMIM:146510 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevated circulating crea... |
OMIM:620300 |
| 15Q Overgrowth Syndrome |
|
Low-set, posteriorly rotated ears, Mixed hearing impairment, Posteriorly rotated ears, Ureteroves... |
ORPHA:314585 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Ataxia, Elevated circulating creatine kinase concentration, Increased serum lactate, Dysmetria, P... |
OMIM:616479 |
| Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Pulmonary edema, Oliguria, Pedal edema, Weight loss, Pleural effusion, Abnor... |
ORPHA:188 |
| Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Tremor, Bruxism, Agitation, Dysphagia, Abnormal repetitive mannerisms |
OMIM:617435 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Pain insensitivity, Posteriorly rotated ears, Optic nerve hypoplasia, Broad nasal ti... |
OMIM:620330 |
| Crouzon Syndrome |
|
Choanal atresia, Optic atrophy, Conductive hearing impairment, Narrow internal auditory canal, Co... |
ORPHA:207 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Severe temper tantrums, Aggressive behavior, Increased serum lactate, Tremor, Optic atrop... |
OMIM:617710 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration |
ORPHA:3233 |
| Frontometaphyseal Dysplasia 1 |
|
Hydroureter, Interphalangeal joint contracture of finger, Limited elbow movement, Ankle flexion c... |
OMIM:305620 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Increased serum lactate, Lactic acidosis, Metabolic acidosis |
OMIM:610678 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Lactic acidosis, Failure to thrive, Increased serum lactate, Dysphagia |
OMIM:613561 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Depressed nasal bridge, Underdeveloped nasal alae, Long nose, Sensorineural hearing impairment, E... |
ORPHA:457351 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... |
ORPHA:275864 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Ataxia, Cochlear degeneration, Hearing impairment |
OMIM:271250 |
| Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
| Sarcoidosis |
|
Renal insufficiency, Abnormal nasal mucosa morphology, Hypercalcemia, Facial palsy, Nephrolithias... |
ORPHA:797 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Anteverted nares, Hypospadias, Uplifted earlobe, Low-set ears, Hydronephrosis |
OMIM:616449 |
| Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Failure to thrive in infancy, Anteverted nares, Depressed nasa... |
ORPHA:1340 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Micropenis, Abnormality of the sense of smell |
OMIM:228300 |
| Moebius Syndrome |
|
Abnormality of the sense of smell, Facial palsy, Dysphagia, Hearing impairment |
ORPHA:570 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Micropenis, Anosmia |
OMIM:618841 |
| 15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Abnormal pinna morphology, Prominent nose, Sensorineur... |
DECIPHER:81 |
| Tarp Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Optic atrophy, Wide nasal bridge, Horseshoe ... |
ORPHA:2886 |
| Igg4-Related Aortitis |
|
Hydronephrosis, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:449400 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Hypospadias, Aggressive behavior, Increased serum lactate, Sensorineural ... |
ORPHA:17 |
| Lacrimoauriculodentodigital Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Choanal atresia, Conductive hearing impairme... |
ORPHA:2363 |
| Leopard Syndrome 1 |
|
Hypospadias, Posteriorly rotated ears, Unilateral renal agenesis, Sensorineural hearing impairmen... |
OMIM:151100 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Anteverted nares, Prominent nasal bridge, Optic nerve hypoplasia, Repetitive compulsive behavior,... |
ORPHA:401777 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Ketonuria, Opisthotonus, Elevated urinary 3-methylcrotonylglycine level, Ep... |
OMIM:210200 |
| Cockayne Syndrome B |
|
Slender nose, Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditory evok... |
OMIM:133540 |
| Fryns Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Hypospadias, Anteverted nares, P... |
ORPHA:2059 |
| Congenital Myopathy 17 |
|
Failure to thrive in infancy, Polyhydramnios, Renal hypoplasia, Low-set ears, Ureteropelvic junct... |
OMIM:618975 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Otitis media, Compulsive behaviors, Conductive hearing impairment, Vesicoureteral reflux, Abnorma... |
ORPHA:353281 |
| Schinzel-Giedion Syndrome |
|
Renal cyst, Choanal stenosis, Micropenis, Hypospadias, Hypsarrhythmia, Abnormal cochlea morpholog... |
ORPHA:798 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Depressed nasal bridge, Dysphagia, Bilateral conductive hearing impairment, Low-set ears, Interic... |
OMIM:617802 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Increased serum lactate,... |
ORPHA:99901 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis |
OMIM:619362 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Optic atrophy, Gait ataxia, Prominent antihelix, Dystonia, Abnormal repetitive mannerisms |
OMIM:617807 |
| Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperkalemia, Metabolic acidosis, Hyperphosphatemia, Myo... |
ORPHA:423 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Pain insensitivity, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Aggressi... |
OMIM:618825 |
| Microsporidiosis |
|
Cachexia, Anorexia, Urethritis, Dehydration, Weight loss, Rhinitis, Abnormality of the urinary sy... |
ORPHA:2552 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Urinary incontinence, Long nose, Small earlobe, Pelvic kidney, Abnormal repet... |
OMIM:619522 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Elevated circulating alpha-fetoprotein concentration, Impaired vibration sensation in the lower l... |
ORPHA:95433 |
| Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Anosmia, Chronic rhinitis, Conductive hearing impairment, Chronic otitis media |
OMIM:244400 |
| 8P11.2 Deletion Syndrome |
|
External ear malformation, Hypoplasia of penis, Depressed nasal bridge, Anosmia |
ORPHA:251066 |
| Meningioma |
|
Papilledema, Ataxia, Urinary incontinence, Facial palsy, Ear pain, Obesity, Abnormality of the se... |
ORPHA:2495 |
| Otopalatodigital Syndrome Type 2 |
|
Hypospadias, Abnormal pinna morphology, Depressed nasal bridge, Ureteral obstruction, Low-set ear... |
ORPHA:90652 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Increased serum lactate, Limb ataxia, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Trunca... |
OMIM:619051 |
| Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Optic nerve hypoplasia, Increased serum lactate, Optic atrophy, Gait ataxia, 3-Methylglutaconic a... |
ORPHA:496790 |
| Developmental And Epileptic Encephalopathy 82 |
|
Increased serum lactate, Hyperammonemia, Decreased body weight |
OMIM:618721 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Fetal pyelectasis, Protruding ear, Interictal epileptiform activity, Vesicoureteral reflux, Thick... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Fetal pyelectasis, Protruding ear, Interictal epileptiform activity, Vesicoureteral reflux, Thick... |
ORPHA:363958 |
| Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Conductive hearing impairment, S... |
ORPHA:391641 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Micropenis, Anosmia |
OMIM:614841 |
| Stromme Syndrome |
|
Prominent nasal bridge, Optic nerve hypoplasia, Bilateral renal hypoplasia, Wide nasal bridge, Sh... |
OMIM:243605 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Elevated lactate:pyruvate ratio, Ataxia, Increased serum lactate, Lacticaciduri... |
OMIM:124000 |
| Amish Lethal Microcephaly |
|
Limitation of joint mobility, Osteoporosis, Metabolic acidosis, Organic aciduria, Decreased skull... |
ORPHA:99742 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Increased serum lactate |
OMIM:615918 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Urinary incontinence, Increased theta frequency activity in EEG, EEG with fo... |
ORPHA:98784 |
| Charge Syndrome |
|
Mixed hearing impairment, Renal agenesis, Choanal atresia, Polyhydramnios, Lop ear, Aplasia of th... |
OMIM:214800 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Long penis, Decreased circulating renin level |
OMIM:202010 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Abnormal vestibular function, Ataxia, Impaired distal proprioception, Increased serum lactate, Hy... |
OMIM:607459 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia, Failure to thrive, Ataxia |
OMIM:618426 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Micropenis, Anosmia |
OMIM:616030 |
| Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Broad nasal tip, Underdeveloped nasal alae, Wide nasal bridge, Horseshoe kidne... |
OMIM:272950 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Abnormal pinna morphology, Hypospadias, Absent tragus, Choanal atresia, Anosmia, Atresia of the e... |
OMIM:603457 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Micropenis, Anosmia |
OMIM:614837 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... |
ORPHA:228308 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... |
ORPHA:529808 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Metabolic acidosis, Lactic acidosis |
OMIM:616501 |
| Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... |
ORPHA:529799 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Polyhydramnios, Urethral atresia, Neonatal death, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Protruding ear, Tics, Otitis media, Compulsive behaviors, Micropenis, Abnormal repetitive manneri... |
OMIM:619475 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Increased serum lactate |
OMIM:616276 |
| Fumarase Deficiency |
|
Increased urine succinate level, Bilateral fetal pyelectasis, Anteverted nares, Polyhydramnios, D... |
OMIM:606812 |
| Eec Syndrome |
|
Hypospadias, Choanal atresia, Renal hypoplasia/aplasia, External ear malformation, Sensorineural ... |
ORPHA:1896 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Wide nose, Hydroureter, Palpebral edema, Abnormality of the upper urinary tract, Prominent nose, ... |
ORPHA:2995 |
| Microphthalmia, Syndromic 9 |
|
Renal malrotation, Renal hypoplasia, Horseshoe kidney, Wide nasal bridge, Low-set ears, Neonatal ... |
OMIM:601186 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Megacystis, Hydronephrosis |
OMIM:619431 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Lactic acidosis, Increased serum lactate |
OMIM:614654 |
| Alazami Syndrome |
|
Wide nose, Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilatio... |
ORPHA:319671 |
| Cat Eye Syndrome |
|
Renal agenesis, Horseshoe kidney, Low-set ears, Vesicoureteral reflux, Stenosis of the external a... |
OMIM:115470 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Prominent nasal bridge, Sensorineural hearing impairment, Obesity, Moderate albuminuria, Hydronep... |
OMIM:619269 |
| Sepsis In Premature Infants |
|
Small for gestational age, Elevated circulating C-reactive protein concentration, Edema, Oliguria... |
ORPHA:90051 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Generalized dystonia, Ataxia, Aggressive behavior, Increased serum lactate, Chorea, Gait ataxia, ... |
OMIM:618321 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia, Hand tremor |
OMIM:609153 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Increased serum lactate, Progressive hearing impairment, Dysphagia, Sensory ataxia |
OMIM:609286 |
| Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Anosmia, Wide nasal bridge, Frontalis muscle weakness |
OMIM:210745 |
| Cockayne Syndrome Type 3 |
|
Optic disc pallor, Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesi... |
ORPHA:90324 |
| Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hyperkalemia, Microphallus, Decrea... |
OMIM:617053 |
| Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Ataxia, Choanal atresia, Underdev... |
ORPHA:2750 |
| Macrocephaly-Developmental Delay Syndrome |
|
Palpebral edema, Wide nasal bridge, Abnormal speech discrimination, Self-injurious behavior, Abno... |
ORPHA:397612 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Anteverted nares, Polyhydramnios, Increased serum lactate, Wide nasal bridge, Hypocholesterolemia... |
OMIM:618810 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op... |
ORPHA:206436 |
| Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Increased serum lactate, Lacticaciduria, L... |
OMIM:613070 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Resting tremor, Ataxia, Elevated circulating creatine kinase concentration, Edema, Facial palsy, ... |
ORPHA:254892 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Prominent nasal bridge, Increased serum lactate, Hypsarrhythmia, Decreased body weight, Failure t... |
OMIM:619060 |
| Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Anosmia, Abnormal cranial nerve morphology |
ORPHA:2057 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Depressed nasal bridge, Unilateral renal agenesis, Elevated 8-dehydrocholesterol, Elevated 8(9)-c... |
OMIM:308050 |
| Cockayne Syndrome A |
|
Slender nose, Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditory evok... |
OMIM:216400 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... |
ORPHA:79403 |
| White-Sutton Syndrome |
|
Duplicated collecting system, Hyperactivity, Posteriorly rotated ears, Depressed nasal bridge, Br... |
ORPHA:468678 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Increased serum la... |
OMIM:619055 |
| Maple Syrup Urine Disease |
|
Increased level of hippuric acid in urine, Ataxia, Elevated circulating branched chain amino acid... |
OMIM:248600 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age, Edema, Acidosis, Increased serum lactate, Metabolic acid... |
ORPHA:391673 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
| Alg9-Cdg |
|
Low-set, posteriorly rotated ears, Hypoplasia of the bladder, Torticollis, Depressed nasal bridge... |
ORPHA:79328 |
| Familial Tumoral Calcinosis |
|
Nephrocalcinosis |
ORPHA:53715 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Abnormality of the sense of smell |
ORPHA:3201 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Lactic acidosis, Increased serum lactate |
OMIM:619059 |
| Smith-Lemli-Opitz Syndrome |
|
Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Self-mutilation, Penoscrotal hyposp... |
OMIM:270400 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Ataxia, Elevated circulating acylcarnitine concentration, Increased serum lact... |
OMIM:615838 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Anteverted nares, Hypospadias, Aggressive behavior, Male urethral meatus stenosis, Low-set ears, ... |
ORPHA:464738 |
| Juvenile Polyposis Syndrome |
|
Hypokalemia, Failure to thrive, Hypoalbuminemia |
OMIM:174900 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
EEG abnormality, Micropenis, Microtia, Hydronephrosis |
OMIM:617798 |
| 9Q21.13 Microdeletion Syndrome |
|
Hydronephrosis, Craniosynostosis |
ORPHA:531151 |
| Harel-Yoon Syndrome |
|
Ataxia, Increased serum lactate, Optic atrophy, Dystonia, Short nose |
OMIM:617183 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Megalocornea-Intellectual Disability Syndrome |
|
Ataxia, Sensorineural hearing impairment, Wide nasal bridge, Protruding ear, EEG abnormality, Hyp... |
ORPHA:2479 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Edema, Hyperkalemia, Oliguria, Pleural empyema, Hypocalcemia, Acute kidney ... |
ORPHA:544482 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Depressed nasal bridge, Wide nasal bridge, Low-set ears, Ureteral triplication, Hydronephrosis |
OMIM:104350 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Overhanging nasal tip, Hypospadias, Posteriorly rotated ears, Choanal atresia, Underdeveloped nas... |
ORPHA:163979 |
| Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Anosmia |
OMIM:274190 |
| Rett Syndrome, Congenital Variant |
|
Dystonia, Depressed nasal bridge, Chorea, Bulbous nose, Tongue thrusting, Protruding ear, Athetos... |
OMIM:613454 |
| Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
| Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ... |
OMIM:233450 |
| Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Elevated circulating creatine kinase concentration, Vertigo, Hyperkalemia, Oliguria, Lact... |
ORPHA:466650 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Abnormal nasopharynx morphology, Hydroureter, Rena... |
OMIM:604292 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Increased serum lactate, Tremor, Sensorineural hearing impairment, 3-Methylglutaric aci... |
OMIM:617248 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Pain insensitivity, Small earlobe, Posteriorly rotated ears, Ataxia, Anteverted nares, Broad nasa... |
OMIM:617330 |
| Lissencephaly 7 With Cerebellar Hypoplasia |
|
Increased serum lactate, Arthrogryposis multiplex congenita |
OMIM:616342 |
| Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia, Anorexia, Cranial nerve compression, Nephrolithiasis, Dehydration, Weight loss, Hy... |
ORPHA:652 |
| Cardiogenic Shock |
|
Increased serum lactate, Vertigo, Elevated circulating creatinine concentration, Oliguria, Metabo... |
ORPHA:97292 |
| Smith-Lemli-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias... |
ORPHA:818 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Limb dystonia, Ataxia, Aggressive behavior, Increased serum lactate, Tremor, Wide nasal bridge, D... |
ORPHA:572798 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Elevated circulating deoxyuridine concentration, Cachexia, Hypoesthesia, Sensorineural hearing im... |
OMIM:603041 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Prominent nose, Macrotia, Abnormal repetitive mannerisms |
ORPHA:391307 |
| Pelvis-Shoulder Dysplasia |
|
Microtia, Abnormal pinna morphology, Hydronephrosis |
ORPHA:2839 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Increased serum lactate, Elbow contracture |
OMIM:611523 |
| Thakker-Donnai Syndrome |
|
Anteverted nares, Posteriorly rotated ears, Bulbous nose, Macrotia, Hydronephrosis |
ORPHA:1780 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Ketonuria, Elevated circulating creatine kinase concentration, Increased serum lactate, Optic atr... |
OMIM:251900 |
| Focal Dermal Hypoplasia |
|
Narrow nasal bridge, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Horseshoe kidney, Lo... |
ORPHA:2092 |
| Craniofacioskeletal Syndrome |
|
Hypospadias, Posteriorly rotated ears, Choanal atresia, Microtia, Hypocalcemia, Hydronephrosis |
OMIM:300712 |
| Trisomy 18 |
|
Low-set, posteriorly rotated ears, Choanal atresia, Cachexia, Abnormality of the upper urinary tr... |
ORPHA:3380 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Optic nerve hypoplasia, Impaired pain sensation, Underdeveloped nasal alae, Conductive hearing im... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Optic nerve hypoplasia, Impaired pain sensation, Underdeveloped nasal alae, Conductive hearing im... |
ORPHA:352665 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Ureteral stenosis, Hypospadias, Hydroureter, Anteverted nares, D... |
OMIM:269150 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia... |
ORPHA:159 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Hypospadias, Small for gestational age, Ataxia, Anteverted nares, Increased serum lact... |
OMIM:220111 |
| 1P36 Deletion Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, D... |
ORPHA:1606 |
| Apnea, Obstructive Sleep |
|
Anosmia |
OMIM:107650 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Ataxia, Underdeveloped nasal alae, Aggressive behavior, Self-injurious behavior, Compulsive behav... |
OMIM:300986 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Posteriorly rotated ears, Prominent nasal bridge, Aggressive behavior, Sensorineural hearing impa... |
OMIM:212066 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent urinary tract infections, Urachus fistula, Sensorineural hearing impairment, Recurrent ... |
OMIM:612541 |
| Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... |
ORPHA:50815 |
| Combined Oxidative Phosphorylation Deficiency 7 |
|
Ataxia, Increased serum lactate, Optic atrophy, Distal sensory impairment, Facial diplegia, Facia... |
OMIM:613559 |
| Opitz Gbbb Syndrome |
|
Hypospadias, Posteriorly rotated ears, Anteverted nares, Wide nasal bridge, Abnormality of the ur... |
ORPHA:2745 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Sensorineural hearing ... |
ORPHA:289176 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
| Fryns Syndrome |
|
Ureteral duplication, Renal agenesis, Hypospadias, Polyhydramnios, Large for gestational age, Ant... |
OMIM:229850 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Anosmia |
OMIM:615270 |
| Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Lactic acidosis, Metabolic acidosis, Organic aciduria, Elevated urinary 3-methylc... |
OMIM:253270 |
| Isolated Complex I Deficiency |
|
Increased serum pyruvate, Optic disc pallor, Ataxia, Optic neuropathy, Sensorineural hearing impa... |
ORPHA:2609 |
| Liver Disease, Severe Congenital |
|
Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, Hyponatremia, Hypospadias, Depr... |
OMIM:619991 |
| Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Broad nasal tip |
OMIM:615637 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
| Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Posteriorly rotated ears, Depressed nasal bridge, Fetal pyel... |
ORPHA:49 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Aganglionic megacolon, Aggressive behavior, Underfolded superior helices, Elevated circulating cr... |
OMIM:300352 |
| Arboleda-Tham Syndrome |
|
Recurrent urinary tract infections, Dystonia, Posteriorly rotated ears, Prominent nasal bridge, B... |
OMIM:616268 |
| Amoebiasis Due To Free-Living Amoebae |
|
Restlessness, Ataxia, Facial palsy, Intrarenal abscess, Hyposmia, Cerebral edema |
ORPHA:68 |
| Cousin Syndrome |
|
Posteriorly rotated ears, Low-set ears, Stenosis of the external auditory canal, Microtia, first ... |
OMIM:260660 |
| 3P25.3 Microdeletion Syndrome |
|
Anteverted nares, Ataxia, Depressed nasal bridge, Prominent nose, Abnormal repetitive mannerisms,... |
ORPHA:435638 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Anosmia |
OMIM:614858 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Polyhydramnios, Otitis media, Compulsive behaviors, Conductive hearing impairment, Vesicoureteral... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Polyhydramnios, Otitis media, Compulsive behaviors, Conductive hearing impairment, Vesicoureteral... |
ORPHA:353277 |
| Cerebellar-Facial-Dental Syndrome |
|
Anteverted nares, Wide nasal bridge, Low-set ears, Ureteropelvic junction obstruction, Failure to... |
ORPHA:444072 |
| Vici Syndrome |
|
Wide nose, Depressed nasal bridge, Elevated circulating creatine kinase concentration, Acidosis, ... |
OMIM:242840 |
| Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Lactic acidosis, Joint contracture, Increased serum lactate |
OMIM:614462 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Wide nose, Pulmonary edema, Polyhydramnios, Edema, Sensorine... |
ORPHA:79330 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, EEG with photoparoxysmal response, Multifocal epilept... |
ORPHA:168491 |
| Musk, Inability To Smell |
|
Anosmia |
OMIM:254150 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Depressed nasal bridge, Palpebral edema, Bulbous nose, Protruding ear, Abnormal antihelix morphol... |
ORPHA:261144 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Duplicated collecting system, Violent behavior, Depressed nasal bridge, Uplifted earlobe, Large f... |
OMIM:280000 |
| Mend Syndrome |
|
Hyperactivity, Prominent nasal bridge, Abnormal auditory evoked potentials, Aggressive behavior, ... |
ORPHA:401973 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Low-set, posteriorly rotated ears, Hypospadias, Unilateral renal agenesis, Lymphedema, Bulbous no... |
ORPHA:487796 |
| Dubowitz Syndrome |
|
Low-set, posteriorly rotated ears, Hypospadias, Depressed nasal bridge, Protruding ear, Abnormal ... |
ORPHA:235 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Increased serum lactate |
ORPHA:663 |
| Anosmia For Isobutyric Acid |
|
Partial anosmia |
OMIM:207000 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Somatic sensory dysfunction, Resting tremor, Ataxia, Abnormal auditory evoked ... |
ORPHA:909 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Sensorineural hearing impairment, Megacystis, Pyelonephritis, Fetal megacystis, Renal cor... |
OMIM:619351 |
| 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 |
| Saethre-Chotzen Syndrome |
|
Depressed nasal bridge, Prominent nasal bridge, Prominent crus of helix, External ear malformatio... |
ORPHA:794 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Increased serum lactate, Achilles tendon contracture, Severe lactic acidosis |
OMIM:615418 |
| Snijders Blok-Campeau Syndrome |
|
Prominent nose, Wide nasal bridge, Attention deficit hyperactivity disorder, Low-set ears, Abnorm... |
OMIM:618205 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Duplicated collecting system, Abnormal nasopharynx morphology, Hydroureter, Renal agenesis, Choan... |
OMIM:129900 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
| Visceral Myopathy 1 |
|
Aganglionic megacolon, Polyhydramnios, Megacystis, Urinary retention, Dysphagia, Vesicoureteral r... |
OMIM:155310 |
| Bainbridge-Ropers Syndrome |
|
Posteriorly rotated ears, Prominent nasal bridge, Polyhydramnios, Anteverted nares, Depressed nas... |
OMIM:615485 |
| Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
| Melas |
|
Proteinuria, Ataxia, Increased serum lactate, Sensorineural hearing impairment, Optic atrophy, La... |
ORPHA:550 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Resting tremor, Facial palsy, Impaired distal proprioception, Increased serum lactate, Sensorineu... |
OMIM:157640 |
| Bilateral Generalized Polymicrogyria |
|
Oculogyric crisis, Oral-pharyngeal dysphagia, Self-injurious behavior, Dystonia, Abnormal repetit... |
ORPHA:208447 |
| Childhood-Onset Spasticity With Hyperglycinemia |
|
Increased serum lactate, Optic atrophy, Ataxia, Nonketotic hyperglycinemia |
ORPHA:401866 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Increased urinary glycerol, Intermittent lactic acidemia, Lactic acidosis, Metabolic acidosis, Hy... |
ORPHA:348 |
| Tick-Borne Encephalitis |
|
Somatic sensory dysfunction, Facial palsy, Elevated circulating C-reactive protein concentration,... |
ORPHA:297 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Chorea, Attention deficit hyperactivity disorder, Dystonia, Abnormal repe... |
OMIM:619725 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Increased serum lactate |
OMIM:619170 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hydronephrosis, Recurrent otitis media, Elevated circulating creatine kinase concentration |
OMIM:614921 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Increased serum lactate, Hyperalaninemia, Failure to thrive in infancy, Hyperprolinemia |
OMIM:619064 |
| Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... |
OMIM:229600 |
| Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Broad nasal tip, Optic atrophy, Abnormal temper tantrums, Abnormal repetit... |
ORPHA:530983 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Low-set, posteriorly rotated ears, Optic disc pallor, Hypospadias, Prominent nasal bridge, Unilat... |
ORPHA:468631 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Xerostomia, Oliguria, Dysphagia |
ORPHA:220393 |
| Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Hyperactivity, Choanal atresia, Long nose, Recurrent otitis m... |
OMIM:251260 |
| Microscopic Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Epistaxis, Oliguria, Hematuria, Paresthesia |
ORPHA:727 |
| Shukla-Vernon Syndrome |
|
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Wide nasal base, Abno... |
OMIM:301029 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Hypospadias, Increased serum lactate, Opisthotonus, Lactic acidosis, Failure to thrive |
OMIM:619272 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Lactic acidosis, Failure to thrive, Metabolic acidosis, Lacticaciduria |
OMIM:615595 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
| Frontometaphyseal Dysplasia |
|
Mixed hearing impairment, Ureteral obstruction, Sensorineural hearing impairment, Urethral stenos... |
ORPHA:1826 |
| Joubert Syndrome 6 |
|
Abnormal repetitive mannerisms, Ataxia, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:610688 |
| Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Ataxia, Increased serum lactate, Dysmetria, Pseudobulbar paralysis, Dystonia, Intention tremor |
ORPHA:438114 |
| Beta-Ureidopropionase Deficiency |
|
Elevated circulating N-carbamyl-beta-alanine concentration, Increased serum lactate, Hypsarrhythm... |
OMIM:613161 |
| Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... |
OMIM:301068 |
| Carey-Fineman-Ziter Syndrome |
|
Anteverted nares, Facial palsy, Glandular hypospadias, Short nose, Hydronephrosis |
ORPHA:1358 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Metabolic acidosis, Medium chain dicarboxylic aciduria, Hyperglycinuria |
OMIM:201450 |
| Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
| Robinow Syndrome |
|
Multicystic kidney dysplasia, Mixed hearing impairment, Posteriorly rotated ears, Small for gesta... |
ORPHA:97360 |
| Wiedemann-Steiner Syndrome |
|
Hyperactivity, Aggressive behavior, Dilatation of renal calices, Wide nasal bridge, Low-set ears,... |
ORPHA:319182 |
| Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Anosmia, Pyriform aperture s... |
OMIM:147250 |
| Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
| Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Oligohydramnios |
OMIM:267430 |
| Sudden Cardiac Failure, Infantile |
|
Metabolic acidosis |
OMIM:617222 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ... |
ORPHA:449291 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
| Glycerol Kinase Deficiency |
|
Increased urinary glycerol, Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, K... |
OMIM:307030 |
| Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Elevated lactate:pyruvate ratio, Depressed nasal bridge, Increased seru... |
OMIM:604377 |
| Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms, Urinary incontinence |
ORPHA:168782 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Depressed nasal bridge, Urinary incontinence, Hair-pulling, Wide nasal bridge, Pro... |
ORPHA:447997 |
| Acute Promyelocytic Leukemia |
|
Epistaxis, Anorexia, Vertigo, Weight loss, Hematuria, Addictive alcohol use |
ORPHA:520 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Impaired pain sensation, Gait ataxia, Low-set ears, Abnormal repetitive mannerisms, Overfriendliness |
OMIM:616579 |
| Gabriele-De Vries Syndrome |
|
Dystonia, Small for gestational age, Posteriorly rotated ears, Oral-pharyngeal dysphagia, Tremor,... |
ORPHA:506358 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Narrow nasal bridge, Depressed nasal bridge, Wide nasal bridge, Attention deficit hyperactivity d... |
OMIM:620073 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Lactic acidosis, Hypoalbuminemia, Hyperthreoninemia, Ket... |
ORPHA:247598 |
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Increased serum lactate, Tremor, Renal tubular dysfunction, Lactic acido... |
OMIM:616539 |
| Rubinstein-Taybi Syndrome 1 |
|
Hyperactivity, Hypospadias, Small for gestational age, Hearing impairment, Polyhydramnios, Convex... |
OMIM:180849 |
| Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatine kinase con... |
ORPHA:36234 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Abnormal vestibular function, Impaired distal proprioception, Incre... |
ORPHA:70595 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Chronic otitis media, Increased serum lactate, Darwin tubercle of helix, Polyhydramnios |
OMIM:612949 |
| Vascular Ehlers-Danlos Syndrome |
|
Narrow nasal bridge, Hypospadias, Vertigo, Cystocele, Aplasia/Hypoplasia of the earlobes, Renovas... |
ORPHA:286 |
| Apert Syndrome |
|
Depressed nasal bridge, Choanal atresia, Choanal stenosis, Chronic otitis media, Hydronephrosis, ... |
OMIM:101200 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Failure to thrive, Hyperactivity, Posteriorly rotated ears, Narrow nasal ridge, Fetal pyelectasis... |
OMIM:619512 |
| Methanol Poisoning |
|
Metabolic acidosis, Hyperlipidemia, Addictive alcohol use |
ORPHA:31825 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Slender build, Chorea, Attention deficit hyperactivity disorder, Recurrent hand fl... |
OMIM:617600 |
| Pitt-Hopkins Syndrome |
|
Cupped ear, Flared nostrils, Wide nasal bridge, Gait ataxia, Self-injurious behavior, Thickened h... |
OMIM:610954 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Anteverted nares, Depressed nasal bridge, Impaired pain sensation, Underdeveloped nasal alae, EEG... |
OMIM:619005 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Disinhibition, Dysphagia |
OMIM:612069 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Neurogenic bladder, Abnormal repetitive mannerisms, Optic nerve hypoplasia, Dysphagia |
ORPHA:572013 |
| Autosomal Recessive Robinow Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicystic kidney dysplasia, Anteverted ... |
ORPHA:1507 |
| Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Tarsal synostosis, Renal hypoplasia/aplasia, Gl... |
ORPHA:2473 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Wide nose, Hypospadias, Small for gestational age, Depressed nasal bridge, Choanal ... |
OMIM:201750 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Torticollis, Dystonia, Optic nerve hypoplasia, Sensorineural hearing impairment, ... |
ORPHA:300570 |
| Occipital Horn Syndrome |
|
Bladder diverticulum, Recurrent urinary tract infections, Dysphagia, Abnormality of the sense of ... |
ORPHA:198 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Joint laxity, Flexion contracture, Camptodactyly, Flexion contracture of finger, Wrist flexion co... |
ORPHA:254528 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Prominent nose, Abnormal earlobe morphology, Dehydration, Oligohydramnios |
ORPHA:96191 |
| Duane Retraction Syndrome |
|
Anteverted nares, Ectopic kidney, External ear malformation, Sensorineural hearing impairment, Wi... |
ORPHA:233 |
| Cystic Fibrosis |
|
Nasal polyposis, Failure to thrive, Hypercalciuria, Dehydration |
OMIM:219700 |
| 5Q14.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Short nose, Anteverted nares, Optic nerve hypoplasia |
ORPHA:228384 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated lactate:pyruvate ratio, Ataxia, Elevated circulating creatine kinase conce... |
OMIM:610505 |
| Netherton Syndrome |
|
Hypernatremic dehydration, Allergic rhinitis, Angioedema, Chronic rhinitis, Failure to thrive |
OMIM:256500 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Depressed nasal bridge, Macrotia, Prominent antihelix, Inappropriate laughter, Failure to thrive,... |
OMIM:615802 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Ataxia, Bulbous nose, Compulsive behaviors, Attention deficit hyperactivity disorder, Macrotia, A... |
OMIM:615656 |
| Glycogen Storage Disease Ia |
|
Proteinuria, Osteoporosis, Nephrolithiasis, Gout, Lactic acidosis, Focal segmental glomeruloscler... |
OMIM:232200 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Lactic acidosis, Myoglobinuria, Increased serum lactate, Elevated circulating creatine kinase con... |
OMIM:255125 |
| Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Increased serum lactate, Increased circulating ferritin concentration, Depressed nasal ridge, Lac... |
OMIM:600462 |
| Melnick-Needles Syndrome |
|
Ureteral stenosis, Macrotia, Stillbirth, Recurrent otitis media, Failure to thrive, Hydronephrosis |
OMIM:309350 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Optic disc pallor, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:79264 |
| Jacobsen Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Anteverted nares, Aplasia/Hypopl... |
ORPHA:2308 |
| Chime Syndrome |
|
Abnormality of the kidney, Depressed nasal ridge, Abnormality of the outer ear, Hydronephrosis, H... |
ORPHA:3474 |
| Hijazi-Reis Syndrome |
|
Abnormal repetitive mannerisms, Hyperbilirubinemia |
OMIM:301094 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Restlessness, Torticollis, Ataxia, Increased serum lactate, Tremor, Lactic acidosis, Cerebral edema |
OMIM:617186 |
| Porphyria Cutanea Tarda |
|
Decreased circulating hepcidin concentration, Abnormal circulating porphyrin concentration, Incre... |
ORPHA:101330 |
| Kinsship Syndrome |
|
Bulbous nose, Renal hypoplasia, Horseshoe kidney, Low-set ears, Bruxism, Failure to thrive, Abnor... |
OMIM:619297 |
| Simpson-Golabi-Behmel Syndrome |
|
Low-set, posteriorly rotated ears, Ureteral duplication, Hypoplasia of penis, Multicystic kidney ... |
ORPHA:373 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Aggressive behavior, Optic atrophy, Self-injurious behavior, Attention deficit hyperactivity diso... |
ORPHA:313892 |
| 3Mc Syndrome 1 |
|
Conductive hearing impairment, Hydronephrosis, Hearing impairment |
OMIM:257920 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Posteriorly rotated ears, Dysesthesia, Protruding ear, Nephrotic syndrome, Short columella, Low-s... |
OMIM:601776 |
| Mesomelia-Synostoses Syndrome |
|
Convex nasal ridge, Hydronephrosis, Polyhydramnios, Hearing impairment |
OMIM:600383 |
| Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Increased serum lactate, Impaired vibration sensation in the lower limbs, Facial diplegia, Abnorm... |
ORPHA:521411 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Single naris, Anosmia, Absent nares, Hyposmia |
ORPHA:2250 |
| Developmental And Epileptic Encephalopathy 66 |
|
Abnormal repetitive mannerisms, Wide nasal bridge |
OMIM:618067 |
| Glycogen Storage Disease Ixc |
|
Increased serum lactate, Lactic acidosis |
OMIM:613027 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Recurrent pharyngitis, Recurrent upper respiratory tract infections, Hyperkalemia, ... |
ORPHA:293978 |
| Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Hyperlipidemia, Recurrent upper respiratory tract infections, H... |
OMIM:232240 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Small for gestational age, Increased serum lactate, Metabolic acidosis, Patent urac... |
OMIM:618252 |
| Okamoto Syndrome |
|
Anteverted nares, Urinary incontinence, Depressed nasal bridge, Underdeveloped nasal alae, Wide n... |
ORPHA:2729 |
| Hereditary Fructose Intolerance |
|
Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Metabolic acidosis, Hyperuricemia, ... |
ORPHA:469 |
| Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Hypospadias, Hypercalcemia, Abnormality of the kidney,... |
ORPHA:821 |
| Campomelic Dysplasia |
|
Hypospadias, Depressed nasal bridge, Polyhydramnios, Recurrent upper respiratory tract infections... |
OMIM:114290 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enuresis nocturna, Compulsive behaviors, Abnormal repetitive mannerisms, Hyperactivity, Anteverte... |
OMIM:615873 |
| Occipital Horn Syndrome |
|
Orthostatic hypotension, Decreased circulating ceruloplasmin concentration, Decreased circulating... |
OMIM:304150 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Repetitive compulsive behavior, Chorea, EEG with focal sharp waves, Self-biting, Choreoat... |
ORPHA:522077 |
| Lysinuric Protein Intolerance |
|
Failure to thrive, Hypolysinemia, Increased serum lactate, Increased circulating ferritin concent... |
OMIM:222700 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Anosmia |
OMIM:614842 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... |
ORPHA:26793 |
| Coffin-Siris Syndrome 1 |
|
Hydroureter, Hypospadias, Abnormal pinna morphology, Posteriorly rotated ears, Ectopic kidney, Ch... |
OMIM:135900 |
| Wiedemann-Rautenstrauch Syndrome |
|
Tremor, Wide penis, Abnormality of the ear, Vesicoureteral reflux, Dilatation of renal calices, H... |
ORPHA:3455 |
| Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Ureteral duplication, Aggressive behavior, Hand tremor, Duplication of renal pelvis, Inappropriat... |
ORPHA:457212 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Anosmia |
OMIM:614839 |
| Isotretinoin-Like Syndrome |
|
Anteverted nares, Aplasia/Hypoplasia of the inner ear, Microtia, Anotia, Hypocalcemia, Bilateral ... |
ORPHA:2306 |
| Acquired Methemoglobinemia |
|
Acidosis |
ORPHA:464453 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Anosmia |
ORPHA:52901 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose, Abnormal repetitive mannerisms |
ORPHA:85277 |
| Parkinson Disease 8, Autosomal Dominant |
|
Hyposmia, Resting tremor |
OMIM:607060 |
| Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... |
OMIM:309000 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Aggressive behavior, Low-set ears, Abnormal temper tantrums, Short nose, Abnormal repetit... |
ORPHA:457279 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hypospadias, Scrotal hypospadias, Hyperkalemia, Perineal hypospadias, Microphallus,... |
OMIM:201810 |
| Prader-Willi Syndrome Due To Translocation |
|
Narrow nasal bridge, Underdeveloped nasolabial fold, Anteverted nares, Abnormality of the kidney,... |
ORPHA:177907 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Increased serum lactate, Flexion contracture, Congenital contracture, Arthrogryposis multiplex co... |
OMIM:618397 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Hypospadias, Posteriorly rotated ears, Small for gestational age, Depressed nasal ... |
OMIM:309590 |
| Cardiospondylocarpofacial Syndrome |
|
Posteriorly rotated ears, Anteverted nares, Conductive hearing impairment, Congenital sensorineur... |
OMIM:157800 |
| Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Obesity, Hypocalcemia, Low-set e... |
OMIM:188400 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Micropenis, Hypospadias, Anosmia |
OMIM:619718 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:199296 |
| Adult Acute Respiratory Distress Syndrome |
|
Metabolic acidosis, Diabetic ketoacidosis |
ORPHA:70578 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Depressed nasal bridge, Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-s... |
OMIM:616393 |
| Glycogen Storage Disease Ib |
|
Proteinuria, Osteoporosis, Nephrolithiasis, Gout, Lactic acidosis, Focal segmental glomeruloscler... |
OMIM:232220 |
| Holoprosencephaly 3 |
|
Depressed nasal bridge, Proboscis, Abnormality of the nose, Single naris, Short columella, Hydron... |
OMIM:142945 |
| Coffin-Siris Syndrome 12 |
|
Overfolding of the superior helices, Hypospadias, Posteriorly rotated ears, Prominent nasal bridg... |
OMIM:619325 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Nonimmune hydrops fetalis, Polyhydramnios, Dilatation of the renal pelv... |
OMIM:265380 |
| Tetrasomy 9P |
|
Renal dysplasia, Recurrent urinary tract infections, Glue ear, Hyperactivity, Convex nasal ridge,... |
ORPHA:3310 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Ataxia, Hyperkalemia, Polyhydramnios |
OMIM:608885 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Metabolic acidosis, Increased urinary glycerol |
OMIM:229700 |
| Ogden Syndrome |
|
Lymphedema, Protruding ear, Abnormal repetitive mannerisms, Global glomerulosclerosis, Depressed ... |
OMIM:300855 |
| Mowat-Wilson Syndrome |
|
Urinary incontinence, Uplifted earlobe, Conductive hearing impairment, Vesicoureteral reflux, Web... |
ORPHA:2152 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Failure to thrive, ... |
OMIM:620242 |
| Developmental And Epileptic Encephalopathy 51 |
|
Elevated lactate:pyruvate ratio, Increased serum lactate |
OMIM:617339 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity diso... |
OMIM:610042 |
| Encephalocraniocutaneous Lipomatosis |
|
Pelvic kidney, Hydronephrosis |
OMIM:613001 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Dysmetria, Facial diplegia, Attention deficit hyperactivity disorder, Trunca... |
OMIM:619121 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Dystonia, Decreased serum iron, Nephrolithiasis,... |
ORPHA:438213 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
| Waardenburg Syndrome, Type 4C |
|
Aganglionic megacolon, Sensorineural hearing impairment, Anosmia |
OMIM:613266 |
| Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Wide nose, Prominent nasal bridge, Polyhydramnios, Prominent nose, ... |
OMIM:606170 |
| Peters Plus Syndrome |
|
Low-set, posteriorly rotated ears, Ureteral duplication, Multicystic kidney dysplasia, Hypospadia... |
ORPHA:709 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Metabolic acidosis, Vesicoureteral reflux, Fa... |
OMIM:615895 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Periorbital edema, Wide nasal bridge, Multiple bladder diverticula, Ascites, Hydronephrosis |
OMIM:613177 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Hydroureter, Posteriorly rotated ears, Abnormality of the kidney, Abnormality of the upper urinar... |
ORPHA:2636 |
| Acute Liver Failure |
|
Pain insensitivity, Ataxia, Acidosis, Hyperammonemia, Alkalosis, Agitation, Acute kidney injury, ... |
ORPHA:90062 |
| Kabuki Syndrome 1 |
|
Crossed fused renal ectopia, Posteriorly rotated ears, Wide nasal bridge, Micropenis, Protruding ... |
OMIM:147920 |
| Mckusick-Kaufman Syndrome |
|
Hydroureter, Aganglionic megacolon, Edema, Pedal edema, Polycystic kidney dysplasia, Vesicovagina... |
OMIM:236700 |
| Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... |
OMIM:618354 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Renal agenesis, Hypospadias, Facial palsy, Optic nerve hypoplasia, Renal hypoplasia, Horseshoe ki... |
ORPHA:508498 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Hydronephrosis, Urethral atresia |
OMIM:271520 |
| Treacher-Collins Syndrome |
|
Hypoplasia of penis, Failure to thrive, Choanal atresia, Wide nasal bridge, Blepharospasm, Microt... |
ORPHA:861 |
| Hydrolethalus Syndrome 1 |
|
Abnormal pinna morphology, Hypospadias, Polyhydramnios, Stillbirth, Midline defect of the nose, L... |
OMIM:236680 |
| Johanson-Blizzard Syndrome |
|
Hypospadias, Small for gestational age, Increased VLDL cholesterol concentration, Urethrovaginal ... |
OMIM:243800 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Choanal stenosis, Low-set ears, Micropenis, Failure... |
ORPHA:83617 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Urinary incontinence, Uplifted earlobe, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvic k... |
ORPHA:261537 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Depressed nasal bridge, Anteverted nares, Polyhydramnios, Long nose, Bulbous nose, Horseshoe kidn... |
ORPHA:508533 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Increased serum lactate, Glandular hypospadias, Abnormal circulating ceruloplasmin concentration,... |
OMIM:620306 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Decreased nerve conduction velocity, Increased serum lactate, Leg dystonia, Hy... |
ORPHA:565624 |
| Knobloch Syndrome 1 |
|
Duplicated collecting system, Optic disc pallor, Ataxia, Depressed nasal bridge, Bulbous nose, Pe... |
OMIM:267750 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hypertriglyceridemia, Failure to thrive in infancy, Depressed nasal bridge, Increased serum lacta... |
OMIM:619418 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Increased serum lactate, Sensorineural hearing impairment |
OMIM:620275 |
| Norrie Disease |
|
Narrow nasal bridge, Failure to thrive, Cachexia, Sensorineural hearing impairment, Optic atrophy... |
ORPHA:649 |
| Sandifer Syndrome |
|
Abnormal head movements, Torticollis |
ORPHA:71272 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Low-set, posteriorly rotated ears, Renal dysplasia, Depressed nasal bridge, Choanal atresia, Prom... |
ORPHA:480880 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Elevated circulating alpha-fetoprotein concentration, Increased serum lactate, Lactic acidosis, D... |
OMIM:614924 |
| Ileal Neuroendocrine Tumor |
|
Hydronephrosis, Edema, Weight loss |
ORPHA:100078 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
EEG with parietal focal spikes, Depressed nasal bridge, Posteriorly rotated ears, Aggressive beha... |
OMIM:301066 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Urinary incontinence, Uplifted earlobe, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvic k... |
ORPHA:261552 |
| Vater/Vacterl Association |
|
Renal dysplasia, Abnormal nasopharynx morphology, Hypospadias, Renal agenesis, Choanal atresia, E... |
OMIM:192350 |
| Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... |
OMIM:258040 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Lower limb dysmetria, Renal hypoplasia/aplasia, Abnormal renal morphology, Protruding ear, Attent... |
ORPHA:363700 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Failure to thrive, Ataxia, Aciduria, Increased serum lactate, 3-Methylglutaconic aciduria, Anasar... |
OMIM:203700 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
ORPHA:90790 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Wide nasal bridge, Low-set ea... |
OMIM:180700 |
| Yellow Fever |
|
Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Elevated circula... |
ORPHA:99829 |
| Mucopolysaccharidosis Type 2 |
|
Otosclerosis, Wide nose, Papilledema, Hyperactivity, Impulsivity, Aggressive behavior, Decreased ... |
ORPHA:580 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Multicystic kidney dysplasia, Elevated circulating creatine kinase concentration, Optic nerve dys... |
OMIM:615287 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Hyperactivity, Palpebral edema, Posteriorly rotated ears, Ataxia, Anteverted nares, Ag... |
OMIM:614756 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossification, H... |
OMIM:610682 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Failure to thrive, Hydroureter, Aganglionic megacolon, Abnormality of the kidney, Abnormality of ... |
ORPHA:2273 |
| Peters-Plus Syndrome |
|
Ureteral duplication, Hypospadias, Posteriorly rotated ears, Polyhydramnios, Renal hypoplasia, Pr... |
OMIM:261540 |
| Focal Dermal Hypoplasia |
|
Narrow nasal bridge, Ureteral duplication, Mixed hearing impairment, Cleft ala nasi, Broad nasal ... |
OMIM:305600 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hypospadias, Anteverted nares, Polyhydramnios, Depressed nasal bridge, Short nose, Wide nasal bri... |
OMIM:312870 |
| Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Hydronephrosis |
ORPHA:210122 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Increased serum lactate, Facial palsy, Failure to thrive, Elevated circulating creatine kinase co... |
OMIM:610131 |
| Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
| Niemann-Pick Disease, Type C2 |
|
Dystonia, Ataxia, Fetal ascites, Polyhydramnios, Dysphagia, Abnormal repetitive mannerisms |
OMIM:607625 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Anteverted nares, Depressed nasal bridge, Repetitive compulsive behavior, Abnormal Eustachian tub... |
ORPHA:513456 |
| Tuberous Sclerosis Complex |
|
Renal insufficiency, Hyperactivity, Abnormality of the kidney, Impulsivity, Aggressive behavior, ... |
ORPHA:805 |
| Proximal Spinal Muscular Atrophy |
|
Multiple joint contractures, Flexion contracture, Elbow flexion contracture, Knee flexion contrac... |
ORPHA:70 |
| Developmental And Epileptic Encephalopathy 100 |
|
Depressed nasal bridge, Broad nasal tip, Chorea, EEG with photoparoxysmal response, Gait ataxia, ... |
OMIM:619777 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Pain insensitivity, Failure to thrive, Ataxia, Distal sensory impairment, Painless fractures due ... |
OMIM:256810 |
| Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... |
ORPHA:573278 |
| Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Posteriorly rotated ears, Depressed nasal bridge, Stillbirth, Low-set ears, Conducti... |
OMIM:304120 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal pinna morphology, Hypospadias, Small for gestational age, Sensorineural hearing impairme... |
OMIM:194190 |
| Familial Pseudohyperkalemia |
|
Hyperkalemia |
ORPHA:90044 |
| Aneurysm Of Sinus Of Valsalva |
|
Oliguria, Edema |
ORPHA:1054 |
| Van Esch-O'Driscoll Syndrome |
|
Depressed nasal bridge, Impulsivity, Protruding ear, Microtia, Attention deficit hyperactivity di... |
OMIM:301030 |
| Viss Syndrome |
|
Exostosis of the external auditory canal, Failure to thrive, Posteriorly rotated ears, Prominent ... |
OMIM:619472 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Prominent nose, Tremor, Sensori... |
OMIM:612474 |
| Developmental And Epileptic Encephalopathy 2 |
|
Abnormal repetitive mannerisms, EEG with generalized slow activity, Anteverted nares, Hypsarrhythmia |
OMIM:300672 |
| Cardiac Valvular Dysplasia 1 |
|
Hydroureter, Edema, Hydrops fetalis, Urethral diverticulum, Hydronephrosis |
OMIM:212093 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic disc pallor, Ataxia, Increased serum lactate, Tremor, Optic atrophy, Obesity |
OMIM:614947 |
| Primrose Syndrome |
|
Restlessness, Calcification of the auricular cartilage, Ataxia, Anteverted nares, Elevated circul... |
OMIM:259050 |
| Nmda Receptor Encephalitis |
|
Orthostatic hypotension, Oculogyric crisis, Orthostatic tachycardia, Hypersexuality, Chorea, EEG ... |
ORPHA:217253 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:529965 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Increased serum lactate |
OMIM:616811 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Posteriorly rotated ears, Choanal atresia, Anteverted nares, Narrow nose, Hypsarrhythmia, EEG abn... |
OMIM:301044 |
| Pilarowski-Bjornsson Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:617682 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Abnormal pelvis bone ossification, Renal hypoplasia,... |
ORPHA:93271 |
| Proteus Syndrome |
|
Anteverted nares, Depressed nasal bridge, Cachexia, Lymphedema, Thick nasal alae, Long penis, Ren... |
ORPHA:744 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Increased serum lactate |
ORPHA:478029 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Increased serum lactate, Dystonia |
OMIM:618222 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Abnormal repetitive mannerisms, Bulbous nose, Proteinuria |
OMIM:616682 |
