| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia, Sensorineural hearing impairment |
ORPHA:3225 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearing impairment, Abno... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearing impairment, Abno... |
ORPHA:529799 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Galactosemia Iv |
|
Cataract, Hypergalactosemia |
OMIM:618881 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
| Galactosemia Ii |
|
Cataract, Hypergalactosemia |
OMIM:230200 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Corneal arcus, Cataract |
OMIM:618463 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype... |
OMIM:615751 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia, EEG with focal epileptiform discharges, Abnormal autonomic nervous system physiolog... |
ORPHA:163921 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Hyperbilirubinemia |
OMIM:618660 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... |
ORPHA:94093 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... |
ORPHA:254704 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
| Hyperferritinemia With Or Without Cataract |
|
Increased circulating ferritin concentration, Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Sensorineural hearing impairment, Hypochloremia, Hypokalemia |
OMIM:613090 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H... |
ORPHA:3008 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Cataract, Optic nerve hypoplasia, Hearing impairment |
OMIM:620157 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia |
OMIM:264350 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
| Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
| Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
| Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, EEG abnormality, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:199296 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:614736 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:171876 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Optic atrophy, Low-set ears |
OMIM:608688 |
| Alg8-Cdg |
|
Hyponatremia, Cataract, Optic atrophy, Low-set ears |
ORPHA:79325 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... |
ORPHA:100924 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Sensorineural hearing impairment, Hypochloremia, Hypokalemia |
OMIM:602522 |
| Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Long hairs growing from helix of pinna |
ORPHA:79273 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia |
OMIM:613845 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Protruding ear, Hypochloremia, Hypokalemia, Increased circulating renin level, Bila... |
ORPHA:89938 |
| Rabin-Pappas Syndrome |
|
Hyponatremia, Cataract, Optic nerve hypoplasia, Sensorineural hearing impairment, Conductive hear... |
OMIM:620155 |
| Familial Dysautonomia |
|
Hyponatremia, Orthostatic hypotension, Corneal opacity, Abnormal pupil morphology, Corneal erosio... |
ORPHA:1764 |
| Hartsfield Syndrome |
|
Hypernatremia, Posteriorly rotated ears, Low-set ears |
OMIM:615465 |
| Infant Botulism |
|
Hyponatremia, Keratoconjunctivitis sicca, Mydriasis |
ORPHA:178478 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Abnormal autonomic nervous system physiology |
ORPHA:83601 |
| Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
| Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
| Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormally... |
OMIM:109120 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Cataract, Optic atrophy, Hypokalemia, Hypocalcemia |
OMIM:617913 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Astigmatism, Abnormal auditory evoked potentials |
OMIM:617523 |
| Snakebite Envenomation |
|
Hyponatremia |
ORPHA:449285 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
| Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Cholesteatoma, Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
OMIM:619381 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Astigmatism, Hyperkalemia |
ORPHA:97362 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Low-set ears, Hypomagnesemia |
OMIM:618183 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Corneal crystals, Hypo... |
ORPHA:411634 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:1667 |
| Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Cataract, Abnormal auditory evoked potentials |
OMIM:619260 |
| Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Abnormal autonomic nervous system phy... |
ORPHA:79473 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... |
OMIM:241200 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Hyperuricemia |
ORPHA:199299 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... |
ORPHA:52368 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Vestibular areflexia, Absent brainstem auditory res... |
ORPHA:3240 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Increased circulating renin l... |
ORPHA:95409 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:90791 |
| Adenohypophysitis |
|
Hyponatremia, Orthostatic hypotension, Sensorineural hearing impairment |
ORPHA:95512 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Optic neuropathy, Optic atrophy... |
OMIM:610505 |
| Japanese Encephalitis |
|
Hyponatremia, Decreased motor nerve conduction velocity, Facial palsy, EEG with burst suppression... |
ORPHA:79139 |
| Necrotizing Enterocolitis |
|
Hyponatremia |
ORPHA:391673 |
| Mirage Syndrome |
|
Hyponatremia, Hyperkalemia |
OMIM:617053 |
| Panhypophysitis |
|
Hyponatremia, Orthostatic hypotension, Sensorineural hearing impairment |
ORPHA:95513 |
| Shigellosis |
|
Hyponatremia, Corneal ulceration, Conjunctivitis, Abnormal blood ion concentration |
ORPHA:810 |
| Legionnaires Disease |
|
Hyponatremia |
ORPHA:549 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:361 |
| Alg12-Cdg |
|
Hyponatremia, Abnormal pinna morphology, Sensorineural hearing impairment, Hypoalbuminemia, Hypoc... |
ORPHA:79324 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypertriglyceridemia, Decreased nerve conduction velocity, Increased circulating fe... |
ORPHA:167 |
| Pituitary Apoplexy |
|
Hyponatremia, Mydriasis |
ORPHA:95613 |
| Whipple Disease |
|
Hyponatremia |
ORPHA:3452 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia |
ORPHA:90790 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Cataract, Optic atrophy, Conjunctivitis, Increased blood ure... |
ORPHA:90321 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Low-set, posteriorly rotated ears, Cataract, Corneal opacity, Hypoammonemia, Abnorm... |
ORPHA:534 |
| Addison Disease |
|
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Increased circulating renin l... |
ORPHA:85138 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
| Sheehan Syndrome |
|
Hyponatremia, Orthostatic hypotension, Sensorineural hearing impairment |
ORPHA:91355 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Corneal crystals, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Recur... |
OMIM:219800 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... |
ORPHA:168558 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Hypochloremia |
ORPHA:90794 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... |
ORPHA:289548 |
| Holoprosencephaly |
|
Hyponatremia, External ear malformation, Optic atrophy, Abnormal antihelix morphology, Macrotia, ... |
ORPHA:2162 |
| Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia |
OMIM:618252 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Hyperkalemia |
ORPHA:293978 |
| Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
| Acute Intermittent Porphyria |
|
Hyponatremia |
ORPHA:79276 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Hyperkalemia |
ORPHA:275761 |
| Mend Syndrome |
|
Cataract, Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol, Elevated 8(9)-chole... |
ORPHA:401973 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
| Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... |
ORPHA:206436 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... |
ORPHA:101085 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia, Sensorineural hearing impairment, Hyperkalemia, Abnormal autonomic ... |
ORPHA:293987 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
| Cockayne Syndrome B |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:133540 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
| Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... |
OMIM:619991 |
| Cockayne Syndrome A |
|
Cataract, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduct... |
OMIM:216400 |
| Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... |
ORPHA:171929 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Low-set ears, Increased serum bile acid concentration |
ORPHA:731 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Decreased circulating renin level, Hyperkalemia, Low-set ears, Conductive hearing i... |
OMIM:201750 |
