Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Male infertility, Nasal polyposis, Pneumonia, Asplenia, Atelectasis,... |
OMIM:244400 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... |
OMIM:616818 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria |
ORPHA:2613 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... |
OMIM:613944 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... |
OMIM:615482 |
Focal Segmental Glomerulosclerosis 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Mi... |
OMIM:613237 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Hypertension |
OMIM:607832 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchi... |
OMIM:612444 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Microscopic hemat... |
OMIM:161900 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... |
OMIM:615500 |
Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Prolinuria |
ORPHA:419 |
Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Short stature, Chronic bronchiti... |
OMIM:612649 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Neonatal respiratory distress, Decreased nasal nitric oxide, Immotile cilia, Rh... |
OMIM:614874 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... |
OMIM:615481 |
Primary Ciliary Dyskinesia |
|
Asplenia, Chronic otitis media, Abnormal sperm motility, Male infertility, Neonatal respiratory d... |
ORPHA:244 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... |
OMIM:615504 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Short stature, Chronic pulmonary... |
OMIM:612650 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, D... |
OMIM:617091 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Chronic rhinitis |
OMIM:618801 |
Hematuria, Benign Familial, 2 |
|
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology |
OMIM:620320 |
Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Chronic bronchitis, Productive cough, Recurrent pneumonia, Bronchi... |
OMIM:615451 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Short stature, Ataxia, Depressed nasal ridge, Respiratory failure |
ORPHA:1861 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Immotile cil... |
OMIM:614935 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:616726 |
Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, D... |
OMIM:616481 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Bronchiectasis,... |
OMIM:615444 |
Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... |
OMIM:615505 |
Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im... |
OMIM:618063 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:54370 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Short stature, Abnormality of the tonsils, Splenomegaly, Abnormal pyramidal sign, R... |
ORPHA:93476 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... |
OMIM:161950 |
Felty Syndrome |
|
Episcleritis, Recurrent respiratory infections, Pericarditis, Sinusitis, Hepatomegaly, Recurrent ... |
ORPHA:47612 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi... |
OMIM:608647 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria, Hypertension |
ORPHA:2820 |
Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... |
OMIM:611884 |
Immunodeficiency 102 |
|
Hepatomegaly, Recurrent skin infections, Autoimmune thrombocytopenia, Nodular regenerative hyperp... |
OMIM:301082 |
Ciliary Dyskinesia, Primary, 42 |
|
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... |
OMIM:618695 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Proteinuria |
OMIM:189800 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Cryptorchidism, Bulbous nose, Wide nasal bridge, Respiratory insuffi... |
ORPHA:1237 |
Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Nasal polyposis, Abdominal situs ambiguus, Productive cough, Recur... |
OMIM:617092 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Thymus hyperplasia, Anteverted nares, Splenomegaly, Hydrocephalus, A... |
ORPHA:2969 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochro... |
OMIM:616084 |
Nephrotic Syndrome, Type 15 |
|
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... |
OMIM:617609 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Spontaneous hemolytic crises, Short stature, Ataxia, Postnatal growt... |
ORPHA:168577 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Hypert... |
ORPHA:84090 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Icf Syndrome |
|
Communicating hydrocephalus, Recurrent respiratory infections, Depressed nasal bridge, Short stat... |
ORPHA:2268 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Yellow Nail Syndrome |
|
Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Dyspnea, Bronchiectasis, Neo... |
ORPHA:662 |
Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Sinusitis, Recurrent bacterial upper respiratory tract infections, Asthma, Atopic dermatitis, Rhi... |
ORPHA:70593 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility, Goiter, Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea |
OMIM:617577 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility |
ORPHA:488191 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Wide nose, Long nose, Anomalous pulmonary venous return |
ORPHA:2184 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Pineocytoma |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251912 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot... |
OMIM:601457 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Ataxia, Poor motor coordination, Tremor, Glutaric aciduria, Chorea, ... |
ORPHA:25 |
Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:614679 |
Ciliary Dyskinesia, Primary, 16 |
|
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... |
OMIM:614017 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Depressed nasal bridge, Anteverted nares, Short stature, Unilateral ... |
ORPHA:1064 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Recurrent pneumonia, Coiled sperm flagella, Reduced sperm motility, Absent sper... |
OMIM:301101 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Ciliary Dyskinesia, Primary, 40 |
|
Reduced forced expiratory volume in one second, Reduced respiratory ciliary beating frequency, De... |
OMIM:618300 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... |
ORPHA:486 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Lymph... |
ORPHA:507 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Pancytopenia, Sinusitis, Skin rash, Autoimmune hemolytic anemia... |
ORPHA:572 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Respiratory distress, Ventriculomegaly, Hyperparathyroidism, Antever... |
OMIM:618188 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Abnormality of the upper urinary tract, Hypovolemia, Renal tubular dysfunction, Glycos... |
ORPHA:99885 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hemiplegia/hemiparesis, Hydrocephalus, Hypertonia |
ORPHA:2807 |
Denys-Drash Syndrome |
|
Proteinuria, Nephrotic syndrome, Hypertension, Nephropathy, Nephroblastoma |
ORPHA:220 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... |
OMIM:615573 |
Atypical Teratoid Rhabdoid Tumor |
|
Hemiplegia/hemiparesis, Hydrocephalus, Cerebral palsy, Ataxia |
ORPHA:99966 |
Biemond Syndrome Type 2 |
|
Short stature, Hypogonadotropic hypogonadism, Hydrocephalus, Obesity, Hypogonadism, Delayed puberty |
ORPHA:141333 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly |
OMIM:611808 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Hec Syndrome |
|
Communicating hydrocephalus, Vaginal hydrocele, Respiratory insufficiency |
ORPHA:2119 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Eosinophilopenia |
|
Decreased eosinophil count, Allergic rhinitis |
OMIM:131430 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio... |
ORPHA:976 |
Galactosemia I |
|
Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine |
OMIM:230400 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Nasal polyposis, Sinusitis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini... |
OMIM:242670 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Mandibular osteomyelitis, Thrombocytop... |
OMIM:259710 |
Scheie Syndrome |
|
Hepatomegaly, Cerebral palsy, Splenomegaly, Rhinitis, Mucopolysacchariduria, Spastic paraparesis |
ORPHA:93474 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Hurler Syndrome |
|
Recurrent respiratory infections, Hepatomegaly, Cerebral palsy, Short stature, Anteverted nares, ... |
ORPHA:93473 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Rhizomelia |
OMIM:166990 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Failure to thrive |
OMIM:129850 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:600995 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Dermatitis, Atopic |
|
Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, Atopic dermatitis, Conjunctivitis |
OMIM:603165 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
H Syndrome |
|
Histiocytosis, Psoriasiform dermatitis, Short stature, Microcytic anemia, Recurrent pharyngitis, ... |
ORPHA:168569 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Failure to thrive, Skin rash |
ORPHA:26 |
Chudley-Mccullough Syndrome |
|
Severe sensorineural hearing impairment, Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Ige Responsiveness, Atopic |
|
Asthma, Eczema, Allergic rhinitis |
OMIM:147050 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis, Conjunctivitis, Allergic rhinitis |
ORPHA:26137 |
Bloom Syndrome |
|
Bronchitis, Uveitis, Otitis media, Male infertility, Decreased proportion of CD4-positive T cells... |
ORPHA:125 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus, Periodontitis, Hearing impairment |
ORPHA:1008 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Amyloidosis, Familial Visceral |
|
Proteinuria, Hematuria, Nephrotic syndrome, Hypertension, Nephropathy |
OMIM:105200 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Pancytopenia, Thrombocytopenia, Hydrocephalus, Splenomegaly, Respiratory insufficie... |
OMIM:610333 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Carboxypeptidase N Deficiency |
|
Allergic rhinitis |
OMIM:212070 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Bulbous nose, Colpocephaly, Ventriculomegaly |
OMIM:615219 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus, Short stature |
OMIM:112240 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ataxia, Ventriculomegaly |
OMIM:618709 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Chronic otitis media, Decreas... |
ORPHA:443811 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Arrhyth... |
ORPHA:225 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus, Wide nasal bridge, Thrombocytopenia |
OMIM:209970 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Pancytopenia, Depressed nasal bridge, Pneumonia, Ataxia, Spastic par... |
ORPHA:309282 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Myoglobinuria, Recurrent |
|
Recurrent myoglobinuria, Exercise-induced myoglobinuria |
OMIM:550500 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Abnormali... |
ORPHA:2552 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Anteverted nares, Bulbous nose, Intrauterine growth retardation, Hyd... |
ORPHA:1780 |
Netherton Syndrome |
|
Recurrent respiratory infections, Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, H... |
OMIM:256500 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Asthma... |
OMIM:612714 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Renal insufficiency, Proteinuria, Abnormality of the k... |
ORPHA:85443 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasa... |
OMIM:300991 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis |
OMIM:617006 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Small for gestational age, Short stature, Postnatal growth retardation, Severe intrauterine growt... |
ORPHA:231144 |
Masa Syndrome |
|
Lower limb spasticity, Short stature, Hydrocephalus, Spastic paraplegia, Paraplegia, Shuffling ga... |
OMIM:303350 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Atypical Hemolytic Uremic Syndrome |
|
Hematuria, Acute kidney injury, Proteinuria |
ORPHA:2134 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
Biemond Syndrome Ii |
|
Hydrocephalus, Short stature |
OMIM:210350 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Hydronephrosis |
OMIM:619269 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Intrauterine growth retardation, Short stature |
ORPHA:2050 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Diencephalic Syndrome |
|
Hydrocephalus, Macrotia, Cachexia, Decreased body weight |
ORPHA:1672 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronch... |
OMIM:613807 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Chronic bronchitis, Short sperm ... |
OMIM:620356 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Short stature, Dysuria, ... |
OMIM:618131 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti... |
ORPHA:331235 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Gómez-López-Hernández Syndrome |
|
Ataxia, Short stature, Anteverted nares, Impaired pain sensation, Hydrocephalus |
ORPHA:1532 |
1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Failure to thrive |
ORPHA:250994 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:613913 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cerebrospinal fluid rhinorrhoea, Chole... |
ORPHA:183675 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology |
ORPHA:839 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Hematuria, Hypertension, Abnormal renal physiology |
OMIM:123550 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired temperature ... |
ORPHA:99947 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Anterior pituitary hypoplasia, Micropenis, Short stature, Hypospadia... |
OMIM:619841 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... |
OMIM:171420 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Resting tremor, Renal insufficiency, Lymphopenia, Maculopapular exanthema, ... |
ORPHA:319213 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Short stature, Ataxia, Inability to walk, Hydrocephalus, Spastic tetraplegia, Hypertonia, Pulmona... |
OMIM:618174 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Hydrocephalus, Obesity, Azoospermia |
ORPHA:2183 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Re... |
OMIM:603278 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Somatic sensory dysfunction, Membranoproliferative glomerulonep... |
OMIM:615816 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Short stature, Female infertility, Sensorineural hearing impairm... |
OMIM:619518 |
Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Arrhythmia, Acute kidney injury |
ORPHA:54057 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Pulmonary embolism, Chronic kidney disease, Stage 5 chronic ki... |
ORPHA:567546 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus, Truncal ataxia |
OMIM:220200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Multicystic kidney dyspla... |
OMIM:615287 |
Paroxysmal Hemicrania |
|
Focal sensory seizure with olfactory features, Rhinitis, Rhinorrhea |
ORPHA:157835 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Anteverted nares, Apnea, Cryptorchidism, Ventriculomegaly |
ORPHA:2462 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Proteinuria, Atrial fibrillation, Cardiac ... |
ORPHA:439232 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Short stature, Unilateral cryptorchidism, Female infertility, Cry... |
ORPHA:261529 |
Alexander Disease |
|
Ataxia, Hydrocephalus, Babinski sign, Dysmetria, Spasticity, Palatal tremor, Increased CSF protei... |
OMIM:203450 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Hepatomegaly, Wide nose, Short stature, Splenomegaly, Recurrent uppe... |
ORPHA:580 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Developmental And Epileptic Encephalopathy 36 |
|
Hepatomegaly, Anteverted nares, Hydrocephalus, Abnormal pyramidal sign, Abnormality of extrapyram... |
OMIM:300884 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Preeclampsia |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated diastolic blood pressure... |
ORPHA:275555 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Moderate albuminuria |
OMIM:614231 |
Nephrotic Syndrome, Type 22 |
|
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... |
OMIM:619155 |
Temple Syndrome |
|
Short stature, Small for gestational age, Postnatal growth retardation, Cryptorchidism, Hydroceph... |
ORPHA:254516 |
Systemic Sclerosis |
|
Renal insufficiency, Pericarditis, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Ri... |
ORPHA:90291 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive heart failure, ... |
ORPHA:330001 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Fried Syndrome |
|
Hydrocephalus, Macrotia, Hearing impairment |
ORPHA:85335 |
Familial Cold Autoinflammatory Syndrome 3 |
|
Recurrent sinopulmonary infections, Allergic rhinitis, Asthma, Recurrent otitis media, Hashimoto ... |
OMIM:614468 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Premature Ovarian Failure 13 |
|
Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... |
OMIM:612310 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Prominent nasal bridge, Ventriculomegaly, Gait ataxia |
OMIM:617011 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Congenital Toxoplasmosis |
|
Failure to thrive in infancy, Hydrocephalus, Intrauterine growth retardation, Ventriculomegaly, H... |
ORPHA:858 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent respiratory infections, Hepatomegaly, Apnea, Tremor, Splenomegaly, Hydrocephalus, Pulmo... |
ORPHA:667 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:608709 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Hydrocephalus, Spastic tetraplegia, Anemia, Hypertonia, Thrombocytopenia |
OMIM:619302 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Prominent nasal bridge, Gait ataxia, Difficulty walking, Micropenis,... |
ORPHA:457359 |
Temple Syndrome |
|
Short stature, Small for gestational age, Posteriorly rotated ears, Overweight, Cryptorchidism, H... |
OMIM:616222 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Moderate albuminuria, Membranoproliferative glomerulonephritis, Microscopic hematuria |
OMIM:619525 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Alg12-Cdg |
|
Recurrent respiratory infections, Wide nose, Hypospadias, Prominent nasal bridge, Recurrent phary... |
ORPHA:79324 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Incoordination, Ataxia, Clonus, Hydrocephalus, Tetraplegia, Increased CSF lactate, Choreoathetosi... |
OMIM:616034 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
Myoglobinuria, Autosomal Dominant |
|
Myoglobinuria, Acute kidney injury |
OMIM:160010 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Postnatal growth retardation, Truncal obesity, Abdominal obesity, Short stature |
OMIM:618160 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma |
ORPHA:330064 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Dopamine Beta-Hydroxylase Deficiency |
|
Dyspnea, Elevated urinary dopamine level, Anemia, Retrograde ejaculation, Rhinitis, Nocturia |
ORPHA:230 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus, Small for gestational age, Protruding ear |
OMIM:618302 |
Congenital Hydrocephalus |
|
Posteriorly rotated ears, Hydrocephalus, Sensorineural hearing impairment, Colpocephaly, Ventricu... |
ORPHA:2185 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Aminoaciduria, Glycosuria, Tubulointer... |
OMIM:618913 |
Degcags Syndrome |
|
Prominent nose, Bilateral renal hypoplasia, Vocal cord paralysis, Leukopenia, Iron deficiency ane... |
OMIM:619488 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Short stature |
OMIM:615925 |
Classic Galactosemia |
|
Speech apraxia, Male infertility, Hepatomegaly, Incoordination, Ataxia, Postural tremor, Prematur... |
ORPHA:79239 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Broad-based gait, Hydrocephalus, Spastic tetraparesis |
OMIM:619470 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Moderate albumi... |
ORPHA:95455 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Hypert... |
OMIM:612925 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... |
OMIM:613496 |
Dent Disease 2 |
|
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... |
OMIM:300555 |
Ichthyosis Prematurity Syndrome |
|
Neonatal asphyxia, Asthma, Allergic rhinitis, Erythroderma |
OMIM:608649 |
Cednik Syndrome |
|
Nephrotic syndrome, Proteinuria, Congestive heart failure |
ORPHA:66631 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury |
OMIM:612924 |
Williams-Beuren Region Duplication Syndrome |
|
Small for gestational age, Short stature, Cryptorchidism, Hydrocephalus, Chronic otitis media, Ov... |
OMIM:609757 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Proteinuria |
OMIM:245900 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Hematuria |
ORPHA:375 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Proteinuria |
OMIM:614652 |
Griscelli Syndrome |
|
Encephalocele, Hepatomegaly, Short stature, Ataxia, Abnormality of neutrophils, Splenomegaly, Hyd... |
ORPHA:381 |
Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Eosinophilia, Leukocytosis, Asthma, Atopic dermatitis, Anemia |
ORPHA:2070 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury |
OMIM:612926 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Microscopic hematuria, Proteinuria |
ORPHA:79087 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Recurrent respiratory infections, Nasal polyposis, Decreased nasal nitric oxide... |
OMIM:620197 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Imerslund-Grasbeck Syndrome 1 |
|
Microscopic hematuria, Proteinuria |
OMIM:261100 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Recurrent respiratory infections, Absent nipple, Depressed nasal bridge, Rhinitis, Hypoplastic ni... |
OMIM:614941 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypogonadism, Obesity |
OMIM:601794 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Myh9-Related Disease |
|
Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Myocardial infarction, Nephro... |
ORPHA:182050 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
Mirage Syndrome |
|
Short stature, Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Thromb... |
OMIM:617053 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... |
ORPHA:94088 |
Fanconi Renotubular Syndrome 3 |
|
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria |
OMIM:615605 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
Papillary Tumor Of The Pineal Region |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251915 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... |
ORPHA:85445 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
Central Neurocytoma |
|
Pain insensitivity, Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Babinski sign, ... |
ORPHA:73256 |
Pheochromocytoma |
|
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... |
OMIM:171300 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Tachycardia, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney ... |
ORPHA:368 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria, Hypertension |
ORPHA:1192 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Central Precocious Puberty In Male |
|
Hydrocephalus, Acne, Abnormality of the testis size |
ORPHA:649929 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Tachycardia, Hypotension |
OMIM:145600 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Hydrocephalus, Macrotia |
OMIM:300886 |
Igg4-Related Kidney Disease |
|
Renal insufficiency, Pericarditis, Proteinuria, Renal interstitial immunoglobulin deposits, Urina... |
ORPHA:449395 |
Microphthalmia, Syndromic 9 |
|
Severe short stature, Short stature, Agenesis of pulmonary vessels, Cryptorchidism, Renal hypopla... |
OMIM:601186 |
Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency |
OMIM:261670 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2668 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure... |
ORPHA:276621 |
Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:617731 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus, Short stature, Low-set ears |
ORPHA:1516 |
Whipple Disease |
|
Hepatomegaly, Myositis, Pericarditis, Ataxia, Myocarditis, Hydrocephalus, Mediastinal lymphadenop... |
ORPHA:3452 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hypospadias, Anteverted nares, Depressed nasal bridge, Spastic tetraparesis, Cryptorchidism, Hydr... |
ORPHA:171839 |
Alexander Disease Type I |
|
Hydrocephalus, Failure to thrive, Cachexia |
ORPHA:363717 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Short stature, Splenomegaly, Hydrocephalus, Chronic kidney disease, Cholestasis, He... |
OMIM:615630 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Progressive cerebellar ataxia, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Allergic rhinitis, Eczema, Asthma, Hydrocephalus, Annular pancreas |
OMIM:618162 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Chronic rhinitis |
OMIM:615225 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Albuminuria, Aminoaciduria, Renal cortical microcysts, Hydronephrosis |
OMIM:214100 |
Krabbe Disease |
|
Hydrocephalus, Failure to thrive, Increased CSF protein concentration, Hearing impairment |
OMIM:245200 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Bilateral renal a... |
OMIM:166300 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus, Overfolded helix, Low-set ears, Hearing impairment |
ORPHA:251046 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Dilated cardiomyopat... |
OMIM:616730 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Pulmona... |
ORPHA:567548 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Short stature, Depressed nasal bridge, Hydrocephalus, Pulmonary hypoplas... |
OMIM:241800 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Short stature, Cryptorchidism, Hydrocephalus, Macrotia, Hearin... |
ORPHA:2701 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... |
ORPHA:656 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Wide nose, Wide nasal bridge, Intrauterine growth retardation, Hypoplastic ... |
ORPHA:89844 |
Bresek Syndrome |
|
Decreased testicular size, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Growth delay, Neonata... |
ORPHA:85284 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Anteverted nares, Splenomegaly, Hydrocephalus, Vacuolated lymphocytes, Nephrotic sy... |
OMIM:269920 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Short stature, Anteverted nares, Ataxia, Splenomegaly, Hydrocephalus, Mucopolysacch... |
OMIM:272200 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Short stature, Prominent nasal bridge, Anteverted nares, Hydrocephalus, Clumsiness, Short nose |
OMIM:300558 |
Fabry Disease |
|
Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta... |
OMIM:301500 |
Craniotelencephalic Dysplasia |
|
Low-set, posteriorly rotated ears, Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Proteinuria |
OMIM:620010 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Absent nipple, Depressed nasal bridge, Eczema, Underdeveloped nasal alae, A... |
OMIM:305100 |
Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Allergic rhinitis |
ORPHA:90368 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Depressed nasal bridge, Hydrocephalus, Wide nasal bridge, Truncal ataxi... |
OMIM:220220 |
Oxoglutaric Aciduria |
|
Short stature, Ataxia, Hydrocephalus, Hypertonia, Abnormal urine alpha-ketoglutarate concentratio... |
ORPHA:31 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus, Hearing impairment |
OMIM:615191 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
ORPHA:347 |
Ovarian Dysgenesis 3 |
|
Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:614324 |
Pontocerebellar Hypoplasia, Type 7 |
|
Apnea, Ataxia, Broad nasal tip, Cryptorchidism, Hydrocephalus, Spastic paraplegia, Wide nasal bri... |
OMIM:614969 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Acne, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Renal amyloidosis |
OMIM:134610 |
Nasu-Hakola Disease |
|
Hydrocephalus, Chorea, Acute leukemia, Oculomotor apraxia, Spasticity, Ventriculomegaly |
ORPHA:2770 |
Lcat Deficiency |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ... |
ORPHA:650 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Recurrent otitis media, Asplenia, Male infertility |
OMIM:618948 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... |
ORPHA:91348 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Obesity |
OMIM:616521 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... |
ORPHA:1652 |
Thalidomide Embryopathy |
|
Short stature, Chronic rhinitis |
ORPHA:3312 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus, Microtia, Intrauterine growth retardation, Hearing impairment |
ORPHA:1914 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Short stature, Mandibular osteomyelitis, Hydrocephalus, Osteoarthritis, Arthritis,... |
ORPHA:53 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... |
ORPHA:97362 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Short nose, Ventriculomegaly |
OMIM:618577 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Short stature, Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hearing impairment |
ORPHA:93274 |
Glycogen Storage Disease Xi |
|
Myoglobinuria, Renal insufficiency |
OMIM:612933 |
Gracile Bone Dysplasia |
|
Short stature, Asplenia, Hydrocephalus, Micropenis, Hypoplastic spleen |
OMIM:602361 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Nephrolithiasis, Obstructive azoospermia |
OMIM:301060 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Anemia |
ORPHA:163596 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly |
ORPHA:272 |
Craniofacial Dyssynostosis With Short Stature |
|
Short stature, Cryptorchidism, Hydrocephalus, Abnormal location of ears, Ventriculomegaly |
OMIM:218350 |
Methylcobalamin Deficiency Type Cble |
|
Postnatal growth retardation, Hydrocephalus, Intrauterine growth retardation, Failure to thrive, ... |
ORPHA:2169 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... |
ORPHA:99845 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Renal insufficiency, Multicystic kidney dysplasia, Apnea, Anteverted nar... |
ORPHA:1454 |
Glycogen Storage Disease V |
|
Dark urine, Myoglobinuria |
OMIM:232600 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Short stature, Epistaxis, Prominent nose, Asplenia, Thrombocytopenia, Hematu... |
OMIM:185070 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Nephrotic syndrome, Mucopolysacchariduria, Proteinuria |
OMIM:215250 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
ORPHA:436271 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure... |
ORPHA:29072 |
Thanatophoric Dysplasia |
|
Hydrocephalus, Disproportionate short-limb short stature, Low-set ears, Intrauterine growth retar... |
ORPHA:2655 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus, Babinski sign, Abnormal pyramidal sign, Spasticity |
OMIM:615599 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Large earlobe, Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
Nephronophthisis 18 |
|
Hydrocephalus, Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial nephritis, Portal ... |
OMIM:615862 |
Coach Syndrome 2 |
|
Congenital hepatic fibrosis, Hydrocephalus, Apneic episodes in infancy, Hepatic fibrosis, Portal ... |
OMIM:619111 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Short stature, Posteriorly rotated ears, Hydrocephalus, Colpocephaly, Intrauterine growth retarda... |
OMIM:619833 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus, Babinski sign, Abnormal pyramidal sign, Spasticity |
ORPHA:397951 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Short stature, Abnormal auditory evoked potentials, Hydrocephalus, Sensorineural hearing impairme... |
OMIM:109120 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Heme Oxygenase 1 Deficiency |
|
Proteinuria, Epistaxis, Diffuse alveolar hemorrhage, Hematuria, Hypertension, Nephritis |
OMIM:614034 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Aminoaciduria, Proteinuria, Pulmonary hemorrhage |
OMIM:603585 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Renal hypoplasia, Respiratory insufficiency, Respiratory fail... |
OMIM:276950 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Posteriorly rotated ears, Hydrocephalus, Low-set ears, Dandy-Walker malformation, Ventriculomegaly |
ORPHA:163961 |
Tenorio Syndrome |
|
Wide nose, Cerebral palsy, Apnea, Anteverted nares, Hydrocephalus, Recurrent pneumonia, Clumsines... |
OMIM:616260 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Proteinuria, Abnormality of the kidney |
ORPHA:369 |
Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... |
OMIM:301050 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Allergic rhinitis, Eosinophilic infiltration of the esophagus, Eosinophilic microabscess formatio... |
ORPHA:411696 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Unilateral renal agenesis, Thrombocytopenia, Hydrocephalus, Splenomeg... |
OMIM:614576 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Cryptorchidism, Hydrocephalus, Sensorineural hearing impairment, Intrauterine growth retardation,... |
OMIM:612938 |
B4Galt1-Cdg |
|
Inflammatory abnormality of the skin, Small for gestational age, Hydrocephalus, Low-set ears, Dan... |
ORPHA:79332 |
Metatropic Dysplasia |
|
Aplasia/Hypoplasia of the lungs, Hydrocephalus, Severe short stature, Depressed nasal bridge |
ORPHA:2635 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Failure to thrive, Low-set ears |
ORPHA:1895 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Low-set, posteriorly rotated ears, Short stature, Hydrocephalus, Meningocele, Anen... |
ORPHA:1908 |
Hogue-Janssen Syndrome 2 |
|
Anteverted nares, Unilateral renal agenesis, Inability to walk, Hydrocephalus, Gait ataxia, Ventr... |
OMIM:616362 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Emanuel Syndrome |
|
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Macrotia, Growth delay, Hypogonadism, Infertilit... |
ORPHA:96170 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Short stature, Hydrocephalus, Low-set ears, Intrauterine growth retardation |
OMIM:300863 |
Emanuel Syndrome |
|
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Macrotia, Recurrent otitis media, Low-set ears, ... |
OMIM:609029 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... |
OMIM:620103 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Hepatomegaly, Pancytopenia, Skin rash, Aplastic anemia, Maculopapular exanthema... |
ORPHA:398124 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:2364 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Recurrent myoglobinuria, Cerebral hemorrhage, Dilated cardiomyopathy, Mi... |
OMIM:620300 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Ventriculomegaly |
OMIM:304100 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Severe short stature, Short stature, Heparan sulfate excretion in urine, Splenomega... |
OMIM:309900 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, R... |
OMIM:192315 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Dilated cardiomyopat... |
OMIM:618348 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Myoglobinuria, Dicarboxylic aciduria, Hypertrophic cardiomyopathy |
OMIM:231530 |
Neuraminidase Deficiency |
|
Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosaccharides, Prote... |
OMIM:256550 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal nasal morphology, Hydrocephalus, Depressed nasal bridge |
ORPHA:83473 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... |
ORPHA:228302 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Small for gestational age, Hydrocephalus, Disproportionate short-trunk short stature |
OMIM:613330 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Clonus, Thrombocytopenia... |
OMIM:259720 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury |
OMIM:268200 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Renal insufficiency, Apnea, Anteverted nares, Prominent nasal bridge, Ataxia, Trem... |
ORPHA:220497 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Myoglobinuria, Acute kidney injury, Arrhythmia |
ORPHA:57 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Vesicoureteral re... |
ORPHA:261222 |
Chiari Malformation Type Ii |
|
Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Cervical myelopathy, Inspira... |
OMIM:207950 |
Galloway-Mowat Syndrome 6 |
|
Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:618347 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Mucopolysaccharidosis Type 1 |
|
Recurrent respiratory infections, Sinusitis, Short stature, Apnea, Depressed nasal bridge, Abnorm... |
ORPHA:579 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Asthma, Hydrocephalus, Increased circulating gonad... |
ORPHA:8 |
L1 Syndrome |
|
Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Gait disturbance, Spasticity |
ORPHA:275543 |
Greig Cephalopolysyndactyly Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Ventriculomegaly |
OMIM:175700 |
Muscle-Eye-Brain Disease |
|
Hemiplegia/hemiparesis, Hydrocephalus, Meningocele, Hypertonia, Gait disturbance, Holoprosencephaly |
ORPHA:588 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren... |
OMIM:256300 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Short stature, Wide nose, Prominent nose, Hydrocephalus, Ure... |
ORPHA:261290 |
Renal Hypodysplasia/Aplasia 1 |
|
Hypertension, Bilateral renal agenesis, Proteinuria, Renal dysplasia |
OMIM:191830 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Proteinuria, Hematuria, Syncope, Renal artery stenosis, Mic... |
ORPHA:71273 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Hepatomegaly, Malformation of the hepatic ... |
OMIM:607361 |
Optic Pathway Glioma |
|
Growth delay, Hydrocephalus |
ORPHA:2086 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Conductive hearing impairment, Hydrocephalus, Inflammatory abnormality of the eye |
ORPHA:93262 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Renal insufficiency, Proteinuria, Renal interstitial amyloid deposit... |
ORPHA:85450 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney dise... |
OMIM:617575 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Short stature, Overweight, Cryptorchidism, Dilated third ventricle, Hydrocephalus, Hypogonadism, ... |
ORPHA:500055 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria |
OMIM:616026 |
Crouzon Syndrome |
|
Hydrocephalus, Conjunctivitis, Conductive hearing impairment, Narrow internal auditory canal, Hea... |
ORPHA:207 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... |
ORPHA:2260 |
Arachnoiditis |
|
Hydrocephalus, Tinnitus, Hearing impairment |
ORPHA:137817 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Ataxia, Respiratory tract infection, Hydrocephalus, Dysmetria, Hepatosplenomegaly, ... |
ORPHA:93400 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy |
OMIM:613404 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Cardiomyopathy, Myoglobinuria |
ORPHA:119 |
Fanconi Anemia, Complementation Group B |
|
Hypergonadotropic hypogonadism, Aplastic anemia, Thrombocytopenia, Hydrocephalus, Abnormal lung l... |
OMIM:300514 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Wide nose, Short stature, Hypospadias, Anteverted nares, Depressed ... |
OMIM:257300 |
Progeroid Short Stature With Pigmented Nevi |
|
Premature ovarian insufficiency, Short stature, Hypospadias, Allergic rhinitis, Allergic conjunct... |
OMIM:176690 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, H... |
ORPHA:411709 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Renal cyst, Bile duct proliferation, Intr... |
OMIM:611134 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Hematuria |
ORPHA:91138 |
Diabetic Embryopathy |
|
Ureteral duplication, Cryptorchidism, Hydrocephalus, Abnormality of the pancreas, Spinal dysraphi... |
ORPHA:1926 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus, Failure to thrive, Hearing impairment |
OMIM:620157 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Short stature, Hydrocephalus, Low-set ears, Intrauterine growth retardation |
ORPHA:163966 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613153 |
Axial Mesodermal Dysplasia Spectrum |
|
Short stature, Abnormality of the spleen, Hydrocephalus, Abnormality of the ureter, Renal cyst, A... |
ORPHA:1834 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:308940 |
Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Depressed nasal bridge, Decreased response to growth hormone stimulation test, Hydro... |
OMIM:220210 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Renal insufficiency, Membranoproliferative glomerulonephritis, Prote... |
ORPHA:91139 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Hypertonia, Hepatic fibrosis, Bacterial endocarditis, Paralysis, Hepat... |
ORPHA:2072 |
Desmosterolosis |
|
Severe short stature, Depressed nasal bridge, Abnormality of the nose, Rigidity, Splenomegaly, Hy... |
ORPHA:35107 |
Coccidioidomycosis |
|
Respiratory distress, Abnormality of the spleen, Abnormality of the liver, Cough, Morbilliform ra... |
ORPHA:228123 |
Joubert Syndrome |
|
Encephalocele, Apnea, Episodic tachypnea, Anteverted nares, Prominent nasal bridge, Tremor, Ataxi... |
ORPHA:475 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Pulmonary arterial hypertensio... |
OMIM:613845 |
Triploidy |
|
Hepatomegaly, Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, Abnor... |
ORPHA:3376 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Aminoaciduria, ... |
ORPHA:213 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus, Gait disturbance, Urinary incontinence |
OMIM:236690 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Absent gallbladder, Hydrocephalus, Bilobed right lung, Anencephaly, Rena... |
OMIM:612284 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mild postnatal growth retardation, Short stature, Small for gestational age, Cryptorchidism, Hydr... |
OMIM:101800 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Cupped ear, Irregular menstruation, Amenorrhea |
OMIM:110100 |
Houge-Janssens Syndrome 1 |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly, Gait ataxia |
OMIM:616355 |
Lowry-Maclean Syndrome |
|
Hypospadias, Choanal atresia, Bilateral cryptorchidism, Abnormality of the abdominal organs, Hydr... |
ORPHA:2409 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus |
ORPHA:380 |
Tetrasomy 15Q26 |
|
Hydrocephalus, Cupped ear, Low-set ears, Intrauterine growth retardation, Dandy-Walker malformation |
OMIM:614846 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Cryptorchidism, Hydrocephalus, Growth delay, Holoprosencephaly, Hearing impairment |
ORPHA:77298 |
3C Syndrome |
|
Recurrent respiratory infections, Hypoplasia of penis, Short stature, Hypospadias, Depressed nasa... |
ORPHA:7 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic syndrome, Microsc... |
OMIM:274150 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus, Obesity, Low-set ears |
ORPHA:2180 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:1946 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Hydrocephalus, Abnormal mesentery morp... |
ORPHA:2075 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... |
OMIM:146255 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Proteinuria, Renal artery stenosis |
OMIM:209010 |
Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:619858 |
Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... |
ORPHA:411634 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Depressed nasal bridge, Short stature, Anteverted nares, Splenomegaly, Hydrocephalu... |
ORPHA:585 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hydrocephalus |
OMIM:613155 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Transient ... |
ORPHA:183 |
Distal Triplication 15Q |
|
Large for gestational age, Hydrocephalus, Cupped ear, Sensorineural hearing impairment, Hydrocele... |
ORPHA:314588 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... |
ORPHA:699 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Urinary incontinence, Depr... |
OMIM:616482 |
Plasminogen Deficiency, Type I |
|
Hydrocephalus, Recurrent upper respiratory tract infections, Nephrolithiasis, Conjunctivitis, Per... |
OMIM:217090 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Pseudo-Torch Syndrome 3 |
|
Hypertension, Acute kidney injury, Proteinuria, Cerebral hemorrhage |
OMIM:618886 |
Glutaric Acidemia I |
|
Hepatomegaly, Ketonuria, Rigidity, Glutaric aciduria, Hydrocephalus, Spastic diplegia, Opisthoton... |
OMIM:231670 |
Dyschondrosteosis-Nephritis Syndrome |
|
Hematuria, Nephropathy, Proteinuria |
ORPHA:1765 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hemiplegia, Hydrocephalus, Gait disturbance |
ORPHA:2181 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Hydranencephaly, Intrauterine growth retardation, Dandy-Walker malformation, Ventr... |
OMIM:225790 |
Primary Fanconi Renotubular Syndrome |
|
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... |
ORPHA:3337 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Spastic paraplegia, Spasticity |
OMIM:307000 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Renal Fanconi syndrome, Proteinuria, Glycosuria |
ORPHA:263455 |
Schimke Immuno-Osseous Dysplasia |
|
Proteinuria, Transient ischemic attack, Minimal change glomerulonephritis, Congestive heart failu... |
ORPHA:1830 |
Joubert Syndrome 14 |
|
Encephalocele, Ataxia, Prominent nasal bridge, Hydrocephalus, Meningocele, Renal cyst, Growth del... |
OMIM:614424 |
Adams-Oliver Syndrome 2 |
|
Low-set ears, Hydrocephalus, Lateral ventricle dilatation, Protruding ear |
OMIM:614219 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility, Decreased nasal nitric oxide, Abdominal situs inversus, Cough, Recurrent otitis... |
OMIM:619607 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis |
OMIM:619428 |
Malignant Hyperthermia Of Anesthesia |
|
High-output congestive heart failure, Ventricular tachycardia, Premature ventricular contraction,... |
ORPHA:423 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
Dextrocardia |
|
Abnormality of the spleen, Hydrocephalus, Abnormal lung lobation, Abnormality of the ureter, Abno... |
ORPHA:1666 |
Hurler Syndrome |
|
Recurrent respiratory infections, Hepatomegaly, Short stature, Anteverted nares, Depressed nasal ... |
OMIM:607014 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Cardiomyopathy, Myoglobinuria, Red-brown urine, Arrhythmia |
ORPHA:228305 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hemiparesis, Hydrocephalus, Abnormal mast cell morphology |
ORPHA:398189 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Growth delay, Colpocephaly, Low-set ears, Ventriculomegaly |
OMIM:620156 |
Legionnaires Disease |
|
Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Hematuria, Hypotension, Arrhythmia |
ORPHA:549 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
OMIM:220110 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Proteinuria, Glomerulonephritis, Prolonged QRS complex, Myoca... |
ORPHA:90068 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Growth delay, Hydrocephalus, Short stature, Decreased body weight |
OMIM:614886 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Short stature, Hydrocephalus, Tubulointerstitial nephritis, Low-set ears, Mild hearing impairment... |
ORPHA:459061 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Ectopic kidney, Hydrocephalus, Horseshoe kidney, Lateral ventricle dilatati... |
OMIM:602200 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Severe short stature, Short stature, Postnatal growth retardation, Heparan sulfate ... |
OMIM:253220 |
Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Nasal polyposis, Reduced forced expiratory volume in one second, ... |
OMIM:219700 |
Pettigrew Syndrome |
|
Prominent nose, Aqueductal stenosis, Hydrocephalus, Gait ataxia, Choreoathetosis, Spasticity, Dan... |
OMIM:304340 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Renal insufficiency, Apnea, Anteverted nares, Prominent nasal bridge, Ataxia, Hydr... |
ORPHA:2318 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Abnormal pinna morphology, Dandy-Walker malformation |
OMIM:147800 |
Tetrasomy 5P |
|
Posteriorly rotated ears, Postnatal growth retardation, Hydrocephalus, Low-set ears, Failure to t... |
ORPHA:3309 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Apnea, Anteverted nares, Prominent nasal bridge, Ataxia, Tremor, Hydrocephalus, Ga... |
ORPHA:220493 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Osteomyelitis, Thrombocytopenia, Hydrocephalus, Splenomegaly, Facial ... |
OMIM:259700 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Glo... |
OMIM:607426 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus, Growth delay, Bone marrow hypocellularity, Pelvic kidney, Anemia |
OMIM:617244 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Intrauterine growth retardation, Hydrocephalus, Failure to thrive, Protruding ear |
OMIM:612940 |
Craniopharyngioma |
|
Hypogonadotropic hypogonadism, Proportionate short stature, Postnatal growth retardation, Hydroce... |
ORPHA:54595 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
Free Sialic Acid Storage Disease |
|
Nephrotic syndrome, Proteinuria |
ORPHA:834 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Cardiac arrest, Ventricular tachycardia, Hypertrophic cardiomyopathy, Torsade de point... |
OMIM:616878 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Abnormal pinna morphology, Hydrocephalus, Severe sensorineural hearing impairment, Nasofrontal en... |
OMIM:614195 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Tubulointerstitial nephritis, Ar... |
ORPHA:33001 |
Achondroplasia |
|
Rhizomelia, Hydrocephalus, Disproportionate short stature, Obesity, Hearing impairment |
ORPHA:15 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R... |
OMIM:300554 |
Thanatophoric Dysplasia, Type I |
|
Neonatal respiratory distress, Hydrocephalus, Pulmonary hypoplasia, Disproportionate short-limb s... |
OMIM:187600 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul... |
OMIM:227810 |
Gaucher Disease |
|
Tremor, Osteoarthritis, Hepatomegaly, Short stature, Ataxia, Hemiplegia/hemiparesis, Hepatitis, R... |
ORPHA:355 |
Gorlin Syndrome |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Abnormality of t... |
ORPHA:377 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo... |
OMIM:614376 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Rigidity, Bulbous nose, Hydrocephalus, Spastic tetraplegia, Difficulty walking, Spasticit... |
OMIM:618476 |
Isotretinoin Embryopathy-Like Syndrome |
|
Anotia, Hydrocephalus, Microtia |
OMIM:243440 |
Oculocerebrocutaneous Syndrome |
|
External ear malformation, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Ventriculome... |
ORPHA:1647 |
Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Short stature, Ataxia, Abnormality of neutrophils, Hydrocephalus, Hypertonia, Hypochromic anemia |
ORPHA:2720 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
Becker Muscular Dystrophy |
|
Abnormal urinary color, Myoglobinuria |
ORPHA:98895 |
Alkuraya-Kucinskas Syndrome |
|
Anteverted nares, Depressed nasal bridge, Hydrocephalus, Short nose, Pleural effusion, Oculomotor... |
OMIM:617822 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Failure to thrive, Ventriculomegaly |
ORPHA:60040 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Recurrent respiratory infections, Dyspnea, Hydrocephalus, Emphysema, Pneu... |
ORPHA:538 |
Mucopolysaccharidosis Type 3 |
|
Adenoiditis, Abnormal pyramidal sign, Hypertonia, Otitis media, Aspiration pneumonia, Chronic oti... |
ORPHA:581 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Depressed nasal bridge, Prominent nasal bridge, Unilateral renal agenesis, Supernumerary nipple, ... |
OMIM:619951 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria |
ORPHA:2774 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Raynaud phenomenon, Hematuria, Nephrotic syndrome, ... |
ORPHA:93552 |
Cole-Carpenter Syndrome 2 |
|
Postnatal growth retardation, Hydrocephalus, Short stature |
OMIM:616294 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Atelectasis, Hydrocephalus, Splenomegaly, Anencephaly, Renal hypoplasia, Respirator... |
OMIM:269860 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Skin rash, Short stature, Cachexia, Hydrocephalus, Hearing impairment |
ORPHA:220295 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, T... |
ORPHA:247691 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Tubulointerstitial nephritis, Proteinuria |
OMIM:616901 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Ataxia, Apnea, Hydrocephalus, Upper motor neuron dysfunction, Hemiparesis,... |
ORPHA:395 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
Fg Syndrome Type 1 |
|
Short stature, Cryptorchidism, Hydrocephalus, Cupped ear, Sensorineural hearing impairment, Micro... |
ORPHA:93932 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Anencephaly, Low-set ears |
ORPHA:2189 |
Hemangioblastoma |
|
Dysesthesia, Hydrocephalus, Neurogenic bladder |
ORPHA:252054 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal ... |
OMIM:615842 |
Czeizel-Losonci Syndrome |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Ureteral agenesis, Congenital megaureter, Pulmonar... |
ORPHA:2437 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Renal insufficiency, Central apnea, Depressed na... |
OMIM:608091 |
Medulloblastoma |
|
Ataxia, Hydrocephalus, Dysmetria, Neoplasm of the lung, Progressive cerebellar ataxia, Cerebellar... |
ORPHA:616 |
Adams-Oliver Syndrome |
|
Encephalocele, Portal hypertension, Congenital hepatic fibrosis, Hydrocephalus, Hemiparesis, Leuk... |
ORPHA:974 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Wide nose, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, C... |
ORPHA:261344 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Pelvis-Shoulder Dysplasia |
|
Short stature, Abnormal pinna morphology, Spina bifida, Mesomelic/rhizomelic limb shortening, Hyd... |
ORPHA:2839 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:370959 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hemiparesis, Hydrocephalus, Unsteady gait |
OMIM:617542 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Depressed nasal bridge, Supernumerary nipple, Cryptorchidism, Hydrocephalus,... |
ORPHA:1812 |
Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H... |
ORPHA:1546 |
1Q44 Microdeletion Syndrome |
|
Growth delay, Hydrocephalus, Short stature, Ventriculomegaly |
ORPHA:238769 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Proteinuria, Heparan sulfate excretion in... |
ORPHA:505248 |
Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Lethal short-limbed short stature, Ventriculomegaly, Hearing impairment |
ORPHA:1860 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Failure to thrive, Short stature, Overweight, Hydrocephalus, Sensorineural hearing impairment, La... |
OMIM:619575 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydrocephalus, Urethral atresia, Pulmonary hypoplasia, Neonatal death, Hydronephrosis, Enlarged k... |
OMIM:314390 |
Aicardi-Goutieres Syndrome 9 |
|
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Pericarditis, Portal hypert... |
OMIM:619487 |
Paroxysmal Cold Hemoglobinuria |
|
Abnormal urinary color, Hemoglobinuria |
ORPHA:90035 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... |
ORPHA:157 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Facial-lingual fasciculations, Prominent nose, Hydrocephalus, Spast... |
OMIM:617281 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Congestive heart failure, Myoglobinuria, Dilated cardiomyopathy, Arrhythmia |
OMIM:609015 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Proteinuria, Transient ischemic attack, Stage 5 chronic kidney disease, Foca... |
OMIM:242900 |
Holoprosencephaly |
|
Hypoplasia of penis, Abnormality of the spleen, Chorea, Depressed nasal ridge, Absent nares, Holo... |
ORPHA:2162 |
Isotretinoin-Like Syndrome |
|
Postnatal growth retardation, Hydrocephalus, Aplasia/Hypoplasia of the inner ear, Anotia, Microti... |
ORPHA:2306 |
Myopathy, Centronuclear, X-Linked |
|
Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Cryptorchidism... |
OMIM:310400 |
Rabin-Pappas Syndrome |
|
Failure to thrive in infancy, Hydrocephalus, Sensorineural hearing impairment, Obesity, Conductiv... |
OMIM:620155 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Heart block, Red-brown urine, Renal tubular epithelia... |
ORPHA:228308 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the nose, Multicystic kidney dysplasia, Cryptorchidism, Hydrocephalu... |
ORPHA:3301 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Cupped ear, Growth delay, Lateral ventricle dilatation, Low-set ears, Intrauterine... |
OMIM:612863 |
Hypocomplementemic Urticarial Vasculitis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Small vessel vasculitis |
ORPHA:36412 |
Fabry Disease |
|
Conjunctival telangiectasia, Glomerulopathy, Renal insufficiency, Bundle branch block, Proteinuri... |
ORPHA:324 |
Monosomy 18Q |
|
Short stature, Bilateral cryptorchidism, Hydrocephalus, Macrotia, Sensorineural hearing impairmen... |
ORPHA:1600 |
Muenke Syndrome |
|
Hydrocephalus, Sensorineural hearing impairment |
ORPHA:53271 |
Donnai-Barrow Syndrome |
|
Proteinuria |
ORPHA:2143 |
Stromme Syndrome |
|
Accessory spleen, Prominent nasal bridge, Hydrocephalus, Bilateral renal hypoplasia, Wide nasal b... |
OMIM:243605 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypertension, Macroscopic hematuria, Enlar... |
ORPHA:251004 |
Diffuse Alveolar Hemorrhage |
|
Hematuria, Pulmonary venous hypertension, Proteinuria |
ORPHA:90060 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Urinary incontinence, Inability to walk, Hydroce... |
ORPHA:2356 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Proteinuria, Urinary incontinence, Pulmonary embolism, Hypertension, Bradycardia, Hy... |
ORPHA:94093 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Posteriorly rotated ears, Hydrocephalus, Sensorineural hearing impairment, Low-set ears, Dandy-Wa... |
OMIM:612582 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Severe short stature, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Respirator... |
ORPHA:1865 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, Recurrent pneumonia, Growth delay, Lateral ventricle d... |
OMIM:612301 |
Rhombencephalosynapsis |
|
Anteverted nares, Ataxia, Hydrocephalus, Short nose, Ventriculomegaly |
ORPHA:59315 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Hypospadias, Anteverted nares, Depressed nasal bridge, Cryptorc... |
OMIM:147791 |
Desmosterolosis |
|
Rhizomelia, Posteriorly rotated ears, Hydrocephalus, Cupped ear, Low-set ears, Failure to thrive,... |
OMIM:602398 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
Papa Syndrome |
|
Proteinuria |
ORPHA:69126 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Macrotia, Posteriorly rotated ears, Noncommunicating hydrocephalus, Low-set ears |
OMIM:619320 |
Fraser Syndrome 3 |
|
Wide nose, Hypoplasia of penis, Hydrocephalus, Abnormal lung lobation, Ureteral agenesis, Stillbi... |
OMIM:617667 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
Walker-Warburg Syndrome |
|
Posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Protruding ear, Low-set ears, Dandy-Walk... |
ORPHA:899 |
Lateral Meningocele Syndrome |
|
Short stature, Posteriorly rotated ears, Abnormality of the middle ear ossicles, Cryptorchidism, ... |
OMIM:130720 |
Ddost-Cdg |
|
Nephrotic range proteinuria |
ORPHA:300536 |
1Q21.1 Microdeletion Syndrome |
|
Short stature, Cryptorchidism, Hydrocephalus, Sensorineural hearing impairment, Intrauterine grow... |
ORPHA:250989 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid... |
OMIM:277400 |
Gitelman Syndrome |
|
Prolonged QT interval, Proteinuria, Urinary incontinence, Decreased urinary potassium, Raynaud ph... |
ORPHA:358 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Short stature, Failure to thrive in infancy, Female infertility,... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Premature ovarian insufficiency, Short stature, Failure to thrive in infancy, Female infertility,... |
ORPHA:99228 |
Monosomy X |
|
Premature ovarian insufficiency, Short stature, Failure to thrive in infancy, Female infertility,... |
ORPHA:99226 |
Turner Syndrome |
|
Premature ovarian insufficiency, Short stature, Failure to thrive in infancy, Female infertility,... |
ORPHA:881 |
Mucopolysaccharidosis-Plus Syndrome |
|
Proteinuria, Congestive heart failure, Nephrotic syndrome, Focal segmental glomerulosclerosis, Re... |
OMIM:617303 |
Dural Sinus Malformation |
|
Somatic sensory dysfunction, Ataxia, Parkinsonism, Myelopathy, Hydrocephalus, Poor coordination, ... |
ORPHA:97339 |
Crouzon Syndrome |
|
Keratitis, Hydrocephalus, Conjunctivitis, Atresia of the external auditory canal, Conductive hear... |
OMIM:123500 |
Hellp Syndrome |
|
Proteinuria, Cerebral hemorrhage, Hemoglobinuria, Hypotension, Acute kidney injury, Internal hemo... |
ORPHA:244242 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Cryptorchidism, Hydrocephalus, Hearing impairment |
OMIM:601499 |
Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Hypospadias, Hydrocephalus, Anencephaly, Pulmonary hypoplasia,... |
ORPHA:1335 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis, Hypercalciuria |
ORPHA:2239 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Heart murmur, Proteinuria, Multiple bladder diverticula |
ORPHA:2728 |
Osteootohepatoenteric Syndrome |
|
Hydrocephalus, Failure to thrive, Hearing impairment, Weight loss |
OMIM:619377 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Short stature, Hypospadias, Depressed nasal bridge, Eczema, Postnatal growth ... |
ORPHA:235 |
Alexander Disease |
|
Ataxia, Clonus, Aqueductal stenosis, Tremor, Hydrocephalus, Chorea, Abnormal pyramidal sign, Resp... |
ORPHA:58 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ... |
ORPHA:488627 |
Holoprosencephaly 14 |
|
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst... |
OMIM:619895 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Sensorineural hearing impairment |
OMIM:615249 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Neurogenic bladder, Short stature, Reduced forced expiratory volume in one second, Reduced forced... |
OMIM:613686 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Pain insensitivity, Short stature, Depressed nasal bridge, Decreased response to growth hormone s... |
OMIM:616007 |
Cardiofaciocutaneous Syndrome 1 |
|
Depressed nasal bridge, Short stature, Anteverted nares, Splenomegaly, Hydrocephalus, Bulbous nos... |
OMIM:115150 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Renal insufficiency, Ketonuria, Ataxia, Pulmonary embolism, Hemolytic-uremi... |
ORPHA:79282 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Severe short stature, Neonatal short-limb short stature, Hydrocephalus |
OMIM:224400 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:603387 |
Agel Amyloidosis |
|
Proteinuria, Stage 5 chronic kidney disease, Cardiomyopathy, Arrhythmia, Orthostatic hypotension ... |
ORPHA:85448 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:713 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Proteinuria, Renal hypoplasia |
ORPHA:1307 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Short stature, Depressed nasal bridge, Pneumonia, Splenomegaly, Hydrocephalus, Recu... |
OMIM:253200 |
Achondroplasia |
|
Respiratory distress, Rhizomelia, Depressed nasal bridge, Hydrocephalus, Upper airway obstruction... |
OMIM:100800 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Ventriculomegaly, Posteriorly rotated ears, Postnatal growth retardation, Hydrocep... |
OMIM:605627 |
22Q11.2 Deletion Syndrome |
|
Abnormal lung lobation, Hypoplasia of the thymus, Vesicoureteral reflux, Chronic otitis media, Hy... |
ORPHA:567 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Short stature, Hypergonadotropic hypogonadism, Ectopic kidney, Cr... |
OMIM:227650 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Paraplegia, Neural tube defect, Enuresis, Hyper... |
ORPHA:268810 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Hypospadias, Elevated circulating luteinizing hormone level, Bilateral cryptorc... |
ORPHA:90793 |
Cerebral Visual Impairment |
|
Cerebral palsy, Hydrocephalus, Clumsiness, Oculomotor apraxia, Infectious encephalitis |
ORPHA:447788 |
Vacterl With Hydrocephalus |
|
Microtia, third degree, Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Anotia,... |
ORPHA:3412 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Short stature, Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Hydr... |
OMIM:227646 |
Meckel Syndrome |
|
Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, Accessory spleen, Pancreatic f... |
ORPHA:564 |
7Q11.23 Microduplication Syndrome |
|
Short stature, Hypospadias, Unilateral renal agenesis, Tracheomalacia, Broad nasal tip, Cryptorch... |
ORPHA:96121 |
Aymé-Gripp Syndrome |
|
Pericarditis, Short stature, Posteriorly rotated ears, Postnatal growth retardation, Cryptorchidi... |
ORPHA:1272 |
Raine Syndrome |
|
Hydroureter, Short stature, Depressed nasal bridge, Choanal atresia, Hydrocephalus, Choanal steno... |
OMIM:259775 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2715 |
Smith-Lemli-Opitz Syndrome |
|
Abnormal lung lobation, Renal cyst, Hypertonia, Holoprosencephaly, Micropenis, Hepatic steatosis,... |
OMIM:270400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
Peho Syndrome |
|
External ear malformation, Hydrocephalus, Macrotia, Ventriculomegaly |
ORPHA:2836 |
Laurin-Sandrow Syndrome |
|
Underdeveloped nasal alae, Prominent nose, Abnormality of the nose, Hydrocephalus, Cryptorchidism... |
ORPHA:2378 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:254900 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria,... |
ORPHA:900 |
Meningioma |
|
Enlarged pituitary gland, Hemifacial spasm, Abnormal central motor function, Ataxia, Urinary inco... |
ORPHA:2495 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Myocardial infarction, Pulmonary embolism, Chr... |
ORPHA:447 |
Spondyloenchondrodysplasia |
|
Proteinuria, Raynaud phenomenon, Vasculitis, Chronic kidney disease, Hematuria, Hypertension |
ORPHA:1855 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Anteverted nares, Choanal atresia, Depressed nasal bridge, Cryptorchidism, ... |
ORPHA:1555 |
Myopathy With Lactic Acidosis, Hereditary |
|
Myoglobinuria, Palpitations |
OMIM:255125 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Hydrocephalus, Renal hypoplasia, Wide nasal bridge, Depressed nasal ti... |
OMIM:614083 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate |
ORPHA:90065 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Postnatal growth retardation, Sensorineural hearing impairment, Lateral ventricle dilatation, Nor... |
ORPHA:300570 |
Glycogen Storage Disease Ia |
|
Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Hypertension, Decreased glomeru... |
OMIM:232200 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Hydrocephalus, Sensorineural hearing impairment, Posteriorly rotated ears, Hearing impairment |
OMIM:239300 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys... |
ORPHA:63259 |
Encephalocraniocutaneous Lipomatosis |
|
Dandy-Walker malformation, Cryptorchidism, Hydrocephalus, Pelvic kidney, Hydronephrosis, Peripher... |
OMIM:613001 |
Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Accessory spleen, Malformati... |
OMIM:249000 |
Imerslund-Gräsbeck Syndrome |
|
Tachycardia, Proteinuria |
ORPHA:35858 |
Melas |
|
Wolff-Parkinson-White syndrome, Proteinuria, Cardiac conduction abnormality, Dilated cardiomyopat... |
ORPHA:550 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Low-se... |
OMIM:264480 |
Ohdo Syndrome |
|
Proteinuria |
OMIM:249620 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Lateral ventricular asymmetry, Keratoconjunctivit... |
OMIM:616914 |
Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Spider hemangioma, Hematuria, Focal segmental glomerulosclerosi... |
OMIM:232240 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Acne, Testicular neoplasm, Elevated circulating luteinizing hormone level, Bila... |
ORPHA:99429 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Overhanging nasal tip, Short stature, Hypospadias, Choanal atresia, Underdeve... |
ORPHA:163979 |
Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Failure to thrive in infancy, Cryptorchidism, H... |
ORPHA:1340 |
Marshall-Smith Syndrome |
|
Short stature, Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Overfolded helix, Bilater... |
OMIM:602535 |
Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Renal corticomedu... |
OMIM:243910 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Abnormal lung lob... |
ORPHA:2166 |
Cousin Syndrome |
|
Rhizomelia, Posteriorly rotated ears, Hydrocephalus, Disproportionate short stature, Low-set ears... |
OMIM:260660 |
Chromosome 17P13.1 Deletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Spina bifida, Prominent nasal bridge, Hydrocephalus, Bu... |
OMIM:613776 |
Acquired Generalized Lipodystrophy |
|
Cardiomyopathy, Proteinuria, Hypertension, Abnormal cardiovascular system physiology |
ORPHA:79086 |
Familial Mediterranean Fever |
|
Pericarditis, Proteinuria, Myocardial infarction, Vasculitis, Nephrocalcinosis, Nephrotic syndrom... |
ORPHA:342 |
Kabuki Syndrome |
|
Short stature, Cryptorchidism, Hydrocephalus, Macrotia, Sensorineural hearing impairment, Obesity... |
ORPHA:2322 |
Wagro Syndrome |
|
Hypertension, Nephroblastoma, Proteinuria |
OMIM:612469 |
Galloway-Mowat Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:2065 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Depressed nasal bridge, Choanal atresia, Aqueductal stenosis, Hydrocephalus... |
ORPHA:93259 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly |
OMIM:617866 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:617729 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Dicarboxylic aciduria, Dilated cardiomyopathy, Hypertrophic cardiomyopathy... |
ORPHA:71212 |
Pfeiffer Syndrome |
|
Depressed nasal bridge, Choanal atresia, Hydrocephalus, Choanal stenosis, Short nose |
OMIM:101600 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Torticollis, Anteverted nares, Depressed nasal bridge, Repeated pneumothora... |
ORPHA:536467 |
Mend Syndrome |
|
Short stature, Posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Low-set ears, Overfolded ... |
OMIM:300960 |
Trisomy 8P |
|
Peripheral pulmonary artery stenosis, Anteverted nares, Depressed nasal bridge, Cryptorchidism, H... |
ORPHA:264450 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Adrenal hyperplasia, Abnormal ovarian morphology, Choanal stenosis, Vesicoureteral reflux, Microp... |
ORPHA:95699 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Hypertonia, Otitis media, Micropenis, Hepatic steatosis, Intention tremor, Hypospadias, A... |
OMIM:619475 |
Tetraamelia Syndrome 1 |
|
Choanal atresia, Asplenia, Hydrocephalus, Single naris, Peripheral pulmonary vessel aplasia, Uret... |
OMIM:273395 |
Alobar Holoprosencephaly |
|
Central apnea, Abnormal central motor function, Short stature, Decreased response to growth hormo... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Abnormal central motor function, Short stature, Decreased response to growth hormo... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Abnormal central motor function, Short stature, Decreased response to growth hormo... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Central apnea, Abnormal central motor function, Short stature, Decreased response to growth hormo... |
ORPHA:220386 |
Mend Syndrome |
|
Short stature, Abnormal auditory evoked potentials, Cryptorchidism, Hydrocephalus, Low-set ears, ... |
ORPHA:401973 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:86818 |
Malakoplakia |
|
Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary hesitancy |
ORPHA:556 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Hemoperitoneum, Bra... |
ORPHA:99827 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Abnormal pinna morphology, Myelomeningocele, Hydrocephalus, Low-set ears, Failure ... |
ORPHA:90652 |
Majeed Syndrome |
|
Glomerulopathy, Microscopic hematuria, Proteinuria |
ORPHA:77297 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Decreased response to growth hormone stimulation test, Pineal cyst, Vesicoureteral reflux, Thick ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Pineal cyst, Vesicoureteral reflux, Thick ... |
ORPHA:363958 |
Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Depressed nasal tip, Microphallus,... |
OMIM:612651 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocephalus, Hydrocele testis, Microtia, Low-set ears, Ventriculomegaly |
OMIM:613603 |
15Q Overgrowth Syndrome |
|
Low-set, posteriorly rotated ears, Mixed hearing impairment, Posteriorly rotated ears, Hydrocepha... |
ORPHA:314585 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... |
ORPHA:411629 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Absent nipple, Depressed nasal bridge, Hydrocephalus, Wide nasal bridge, Ureteral triplication, H... |
OMIM:104350 |
Cystinosis, Nephropathic |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Ne... |
OMIM:219800 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Depressed nasal bridge, Long nose, Hydrocephalus, Spasticity, Short nose |
OMIM:618590 |
Apert Syndrome |
|
Hydrocephalus, Sensorineural hearing impairment, Abnormal semicircular canal morphology, Conducti... |
ORPHA:87 |
Neurooculorenal Syndrome |
|
Mixed hearing impairment, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Aqueductal... |
OMIM:620305 |
Glycogen Storage Disease Ib |
|
Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Hypertension, Decreased glomeru... |
OMIM:232220 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Decreased testicular size, Short stature, Hydrocephalus, Leukocytosis, Renal hypoplasia, Hypoplas... |
OMIM:619321 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Depressed nasal bridge, Hydrocephalus, Anencephaly, Pulmonary hypoplasia, Polycystic kidney dyspl... |
OMIM:616546 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Hydrocephalus, Microtia, Low-set ears, Dandy-Walker malformation, Ventriculomegaly |
OMIM:614643 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria |
OMIM:251900 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Hypospadias, Anteverted nares, Depressed nasal bridge, Choanal atresia, Pro... |
OMIM:123790 |
Martin-Probst Syndrome |
|
Renal insufficiency, Proteinuria, Telangiectasia, Chordee, Micropenis |
OMIM:300519 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Proteinuria, Renal cyst, Nephrotic syndrome, Cardiomyopathy, Proximal tubulopathy |
OMIM:212065 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Posteriorly rotated ears, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Macrotia, Sensorine... |
OMIM:619512 |
Apert Syndrome |
|
Acne, Cryptorchidism, Hydrocephalus, Rhizomelic arm shortening, Chronic otitis media, Ventriculom... |
OMIM:101200 |
Fanconi Anemia |
|
Short stature, Spina bifida, External ear malformation, Cryptorchidism, Hydrocephalus, Weight los... |
ORPHA:84 |
Cockayne Syndrome A |
|
Short stature, Abnormal pinna morphology, Abnormal auditory evoked potentials, Cryptorchidism, Se... |
OMIM:216400 |
Osteopathia Striata With Cranial Sclerosis |
|
Failure to thrive, Short stature, Posteriorly rotated ears, Hydrocephalus, Microtia, Low-set ears... |
OMIM:300373 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Cryptorchidism, Hydrocephalus, M... |
OMIM:236670 |
Hypoplasminogenemia |
|
Cervicitis, Periodontitis, Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria |
OMIM:620138 |
Holoprosencephaly 7 |
|
Flat nasal alae, Alobar holoprosencephaly, Hydrocephalus, Absent nasal septal cartilage, Wide nas... |
OMIM:610828 |
Gaucher Disease Type 1 |
|
Hematuria, Pulmonary arterial hypertension, Proteinuria |
ORPHA:77259 |
Mohr Syndrome |
|
Conductive hearing impairment, Hydrocephalus, Short stature |
OMIM:252100 |
Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Rhizomelia, Short stature, Hydrocephalus, Microtia, Low-set ears, Prominent antitragus |
OMIM:245600 |
Kawasaki Disease |
|
Pericarditis, Proteinuria, Congestive heart failure, Myocarditis, Vasculitis, Sterile pyuria, Arr... |
ORPHA:2331 |
Lhermitte-Duclos Disease |
|
Hydrocephalus, Ataxia, Ovarian neoplasm |
ORPHA:65285 |
Opitz-Kaveggia Syndrome |
|
Short stature, Cryptorchidism, Hydrocephalus, Sensorineural hearing impairment, Microtia, first d... |
OMIM:305450 |
Xfe Progeroid Syndrome |
|
Hypertension, Renal insufficiency, Proteinuria |
OMIM:610965 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Hydrocephalus, Pituitar... |
ORPHA:91350 |
Hajdu-Cheney Syndrome |
|
Recurrent respiratory infections, Wide nose, Hepatomegaly, Short stature, Hypospadias, Anteverted... |
ORPHA:955 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Hypospadias, Elevated circulating luteinizing hormone level, Bilateral cryptorc... |
ORPHA:90797 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:161200 |
46,Xy Partial Gonadal Dysgenesis |
|
Male infertility, Hypoplasia of penis, Streak ovary, Hypospadias, Hypergonadotropic hypogonadism,... |
ORPHA:251510 |
Hajdu-Cheney Syndrome |
|
Short stature, Cryptorchidism, Hydrocephalus, Large earlobe, Low-set ears, Conductive hearing imp... |
OMIM:102500 |
Cockayne Syndrome B |
|
Severe short stature, Small for gestational age, Abnormal pinna morphology, Abnormal auditory evo... |
OMIM:133540 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Renal cyst, Pulmonary insufficiency, Ne... |
OMIM:208500 |
Tetrasomy 9P |
|
Absent gallbladder, Myositis, Pericarditis, Convex nasal ridge, Cryptorchidism, Hydrocephalus, Bu... |
ORPHA:3310 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Posteriorly rotated ears, Abnormal pinna morphology, Cryptorchidism, Hydrocephalus, Low-set ears,... |
OMIM:182212 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Anencephaly, Abnormal lung lobation, Stillbirth, Midline defect of... |
OMIM:236680 |
Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Hematuria |
ORPHA:761 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Bilateral trilobed lung, Hepatomegaly, Aqueductal stenosis, Asplenia, Myelo... |
OMIM:306955 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Short stature, Hydrocephalus, Colpocephaly, Chordee, Hearing impairment |
OMIM:309801 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
Donnai-Barrow Syndrome |
|
Non-acidotic proximal tubulopathy, Proteinuria |
OMIM:222448 |
Monosomy 9Q22.3 |
|
Large for gestational age, Hydrocephalus, Low-set ears, Thickened ears, Ventriculomegaly |
ORPHA:77301 |
Holoprosencephaly 9 |
|
Short stature, Depressed nasal bridge, Decreased response to growth hormone stimulation test, Ant... |
OMIM:610829 |
Kabuki Syndrome 1 |
|
Ureteropelvic junction obstruction, Hemolytic anemia, Crossed fused renal ectopia, Short stature,... |
OMIM:147920 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... |
ORPHA:2614 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Nephropathy |
ORPHA:1018 |
Marden-Walker Syndrome |
|
Severe short stature, Posteriorly rotated ears, Hydrocephalus, Growth delay, Low-set ears, Intrau... |
ORPHA:2461 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Exaggerated startle response, Hydrocephalus, Respiratory insufficiency, Holoprosen... |
OMIM:253800 |
Osteogenesis Imperfecta |
|
Neonatal respiratory distress, Somatic sensory dysfunction, Rhizomelia, Short stature, Ataxia, Th... |
ORPHA:666 |
Wilson Disease |
|
Hyperphosphaturia, Proteinuria, Nephrolithiasis, Hypercalciuria, Renal tubular dysfunction, Amino... |
OMIM:277900 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Hepatomegaly, Hydrocephalus, Pancytopenia |
OMIM:231005 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Depressed nasal bridge, Choanal atresia, Hydrocephalus, Upper airway obstruction, Choanal stenosis |
OMIM:207410 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Cardiomyopathy, Myoglobinuria |
ORPHA:206549 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Mild proteinuria |
OMIM:619685 |
Fraser Syndrome 1 |
|
Encephalocele, Wide nose, Cleft ala nasi, Hypospadias, Depressed nasal bridge, Underdeveloped nas... |
OMIM:219000 |
Cockayne Syndrome Type 1 |
|
Hypertension, Renal insufficiency, Proteinuria |
ORPHA:90321 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Renal insufficiency, Mild proteinuria |
OMIM:619147 |
Capillary Malformation-Arteriovenous Malformation |
|
Neurogenic bladder, Epistaxis, Hydrocephalus, Abnormality of the lymphatic system, Chylothorax |
ORPHA:137667 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Anotia, Microtia, Atresia of the external auditory canal, Hearing impairment |
ORPHA:268249 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent respiratory infections, Short stature, Hypospadias, Anteverted nares, Depressed nasal b... |
OMIM:264090 |
Congenital Myopathy 22A, Classic |
|
Normal pressure hydrocephalus |
OMIM:620351 |
Systemic Lupus Erythematosus |
|
Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Hematuria, Hypertension |
ORPHA:536 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Short stature, Hypospadias, Unilateral cryptorchidism, Bilateral ... |
ORPHA:1772 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Short stature, Rhizomelia, Hypospadias, Antev... |
ORPHA:709 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Hydrocephalus, Tachypnea, Renal cyst, Polycystic ovaries, Cough, Hemiplegia, Pulmon... |
ORPHA:137675 |
Knobloch Syndrome |
|
Occipital encephalocele, Depressed nasal bridge, Hydrocephalus, Vesicoureteral reflux, Lymphangio... |
ORPHA:1571 |
Orofaciodigital Syndrome I |
|
Short stature, Proteinuria, Underdeveloped nasal alae, Pancreatic cysts, Myelomeningocele, Hydroc... |
OMIM:311200 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Aqueductal stenosis, Hepatic fibrosis, Neonatal death, Intrahepati... |
OMIM:619534 |
Wolf-Hirschhorn Syndrome |
|
Short stature, Small for gestational age, Abnormal pinna morphology, Cryptorchidism, Hydrocephalu... |
OMIM:194190 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Ventriculomegaly |
OMIM:613150 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, R... |
ORPHA:48435 |
Fontaine Progeroid Syndrome |
|
Absent nipple, Short stature, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Pneumothorax... |
OMIM:612289 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta... |
OMIM:251300 |
Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Hypospadias, Apnea, Spina bifida, Depressed ... |
OMIM:114290 |
Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Tremor, Wide penis, Hypertonia, Vesicouret... |
ORPHA:3455 |
Lysinuric Protein Intolerance |
|
Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Tubulointerstitial nephritis, Renal f... |
ORPHA:470 |
Microphthalmia With Limb Anomalies |
|
Low-set, posteriorly rotated ears, Short stature, Cryptorchidism, Hydrocephalus, Large earlobe, F... |
ORPHA:1106 |
Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Hematuria, Nephrotic syndrome, Urethr... |
ORPHA:2035 |
Acrofacial Dysostosis 1, Nager Type |
|
Short stature, Posteriorly rotated ears, Aqueductal stenosis, Hydrocephalus, Atresia of the exter... |
OMIM:154400 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Anteverted nares, Prominent nose, Cryptorchidism, Hydrocephalus, Disproportionate short stature, ... |
OMIM:210710 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Calcification of the auricular cartilage, Short stature, Bilateral cryptorchidism, Hydrocephalus,... |
ORPHA:3042 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Myoglobinuria, Cardiomyopathy |
ORPHA:264580 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Retinal hemorrhage, Nep... |
OMIM:609049 |
Pseudoaminopterin Syndrome |
|
Short stature, Prominent nasal bridge, Asplenia, Cryptorchidism, Hydrocephalus, Horseshoe kidney |
ORPHA:221120 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
Relapsing Polychondritis |
|
Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Large vessel vasculi... |
ORPHA:728 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal... |
OMIM:122470 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Proteinuria, Epistaxis, Nephrolithiasis, Stage 5 chronic kidney disease, Nephrocalcinosis, Hypert... |
ORPHA:79259 |
Exstrophy-Epispadias Complex |
|
Renal insufficiency, Urinary incontinence, Spina bifida, Epispadias, Hydrocephalus, Cystocele, Ab... |
ORPHA:322 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Myocardial infarction, Hemoglobinuria, Hypertension, Acute kidney injury |
ORPHA:90038 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly, Pulmonary hypoplasia, Hypospadias |
OMIM:313850 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Severe short stature, Hydrocephalus, Abnormal earlobe morphology, Growth delay, Cleft earlobe, Fa... |
ORPHA:2556 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Hydrocephalus, Pleural effusion, Enlarged kidney, Pulmonary edema |
OMIM:261740 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hemoglobinuria |
OMIM:194380 |
Fetal Akinesia Deformation Sequence 1 |
|
Small for gestational age, Posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Low-set ears,... |
OMIM:208150 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi... |
ORPHA:534 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Severe short stature, Hypospadias, Choanal atresia, Epispadias, Hydroc... |
ORPHA:2658 |
Costello Syndrome |
|
Renal insufficiency, Short stature, Anteverted nares, Depressed nasal bridge, Hydrocephalus, Pneu... |
OMIM:218040 |
Neurofibromatosis, Type I |
|
Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus, Pheochromocytoma, Renal artery s... |
OMIM:162200 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Myoglobinuria |
ORPHA:79240 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal neutrophilic tubulitis, Renal interstitial edema, Sterile pyuria, Renal tubular epithelial ... |
ORPHA:91500 |
Gaucher Disease Type 3 |
|
Hematuria, Pulmonary arterial hypertension, Proteinuria |
ORPHA:77261 |
Yunis-Varon Syndrome |
|
Short stature, Abnormal pinna morphology, Postnatal growth retardation, Cryptorchidism, Hydroceph... |
ORPHA:3472 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent formation,... |
OMIM:233450 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Hemoglobinuria |
OMIM:300908 |
Peters-Plus Syndrome |
|
Microtia, second degree, Rhizomelia, Posteriorly rotated ears, Postnatal growth retardation, Cryp... |
OMIM:261540 |
Neurofibromatosis Type 1 |
|
Short stature, Ataxia, Cryptorchidism, Hydrocephalus, Chronic myelogenous leukemia, Paresthesia, ... |
ORPHA:636 |
Infection-Related Hemolytic Uremic Syndrome |
|
Anuria, Myocarditis, Oliguria, Hypertension, Acute kidney injury, Nephrotic range proteinuria, De... |
ORPHA:544482 |
Distal 22Q11.2 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Protruding ear, Abnormal antihelix morphology, Abnormal helix morp... |
ORPHA:261337 |
Full Nf2-Related Schwannomatosis |
|
Myelopathy, Hydrocephalus, Tinnitus, Sensorineural hearing impairment |
ORPHA:637 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Neonatal respiratory distress, Hypospadias, Anteverted nares, Depressed nasal bridg... |
OMIM:312870 |
Cockayne Syndrome |
|
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... |
ORPHA:191 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hypertension, Hydronephrosis |
ORPHA:2750 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Hypospadias, Underdeveloped nasal alae, Postnatal growth retardation, Cryptorch... |
OMIM:268300 |
Noonan Syndrome 1 |
|
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Short statu... |
OMIM:163950 |
Insulin-Resistance Syndrome Type B |
|
Proteinuria, Nephritis, Glycosuria |
ORPHA:2298 |
Basal Cell Nevus Syndrome 1 |
|
Ovarian fibroma, Spina bifida, Hydrocephalus, Wide nasal bridge, Ovarian carcinoma |
OMIM:109400 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Posteriorly rotated ears, Thickened helices, Asymmetry of the ears, Cryptorchidism, Hydrocephalus... |
OMIM:607872 |
Williams Syndrome |
|
Hypoplasia of penis, Myocardial infarction, Abnormal tubulointerstitial morphology, Nephrocalcino... |
ORPHA:904 |
Bardet-Biedl Syndrome 20 |
|
Micropenis, Proteinuria |
OMIM:619471 |
Sturge-Weber Syndrome |
|
Hydrocephalus |
ORPHA:3205 |
Coffin-Siris Syndrome 12 |
|
Overfolding of the superior helices, Short stature, Posteriorly rotated ears, Cryptorchidism, Sen... |
OMIM:619325 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, Hydrocephalus, Anteverted nares, Ventriculomegaly |
ORPHA:457284 |
Oeis Complex |
|
Hydroureter, Epispadias, Myelomeningocele, Hydrocephalus, Vesicovaginal fistula, Cryptorchidism, ... |
OMIM:258040 |
Limb Body Wall Complex |
|
Encephalocele, Depressed nasal bridge, Choanal atresia, Spina bifida, Myelomeningocele, Hydroceph... |
ORPHA:2369 |
Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Short stature, Spina bifida, Depressed nasal bridge, Postnatal growth retardation, C... |
OMIM:304120 |
Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s... |
ORPHA:573278 |
Focal Dermal Hypoplasia |
|
Narrow nasal bridge, Ureteral duplication, Cleft ala nasi, Short stature, Supernumerary nipple, B... |
OMIM:305600 |
Baller-Gerold Syndrome |
|
Mixed hearing impairment, Severe short stature, Short stature, Posteriorly rotated ears, Hydrocep... |
OMIM:218600 |
Townes-Brocks Syndrome 1 |
|
Overfolding of the superior helices, Small for gestational age, Cryptorchidism, Hydrocephalus, Se... |
OMIM:107480 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... |
OMIM:309000 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... |
OMIM:614748 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Focal segmental glomerulosclerosis, Mitral regurgitation, Tricuspid regurgitation, Proteinuria |
OMIM:619127 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Lower limb dysmetria, Sinusitis, Short stature, Hydrocephalus, Hydronephrosis |
ORPHA:363700 |
Glycogen Storage Disease Xii |
|
Hemoglobinuria |
OMIM:611881 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Myoclonus, Spasticity, Short nasal bridge, Ventriculomegaly |
OMIM:253280 |
Loeys-Dietz Syndrome 1 |
|
Hydrocephalus, Eosinophilic infiltration of the esophagus |
OMIM:609192 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Proteinuria, Cerebral hemorrhage |
OMIM:616682 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Hydrocephalus, Babinski sign, Hemiparesis, Tetraparesis, Hemiplegia, Spasticity... |
OMIM:175780 |
Loeys-Dietz Syndrome 2 |
|
Hydrocephalus, Eosinophilic infiltration of the esophagus |
OMIM:610168 |
Tuberous Sclerosis Complex |
|
Noncommunicating hydrocephalus, Subependymal nodules |
ORPHA:805 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Hydrocephalus, Sensorineural hearing impairment, Anotia, Microtia, Atres... |
OMIM:164210 |
Pmm2-Cdg |
|
Pericarditis, Proteinuria, Angina pectoris, Intracranial hemorrhage, Nephrotic syndrome, Multiple... |
ORPHA:79318 |