Proteinuria, Chronic Benign |
|
Renal insufficiency, Proteinuria, Albuminuria |
OMIM:618884 |
Lipoprotein Glomerulopathy |
|
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria |
OMIM:611771 |
Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:617783 |
Hyperprolinemia Type 1 |
|
Prolinuria, Nephropathy, Proteinuria |
ORPHA:419 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Bronchiectasis, Immotile cilia, Communicating hydrocephalus, Recurrent bronchitis, Chro... |
OMIM:244400 |
Nephrotic Syndrome, Type 18 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Stage 3 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic s... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:301028 |
Focal Segmental Glomerulosclerosis 8 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616032 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Stage 5 chronic kidney disease, Nephrotic syndrome, Pro... |
OMIM:601894 |
Ciliary Dyskinesia, Primary, 25 |
|
Chronic bronchitis, Bronchiectasis, Productive cough, Immotile cilia, Infertility, Polysplenia, R... |
OMIM:615482 |
Ciliary Dyskinesia, Primary, 9 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Chroni... |
OMIM:612444 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... |
OMIM:616002 |
Ciliary Dyskinesia, Primary, 26 |
|
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... |
OMIM:615500 |
Nephrotic Syndrome, Type 17 |
|
Stage 5 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... |
OMIM:618176 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Stage 5 chronic kidney disease, Proteinuria, Nephrotic syndrome |
OMIM:614199 |
Ciliary Dyskinesia, Primary, 11 |
|
Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Short stature, Immotile cilia, ... |
OMIM:612649 |
Focal Segmental Glomerulosclerosis 10 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... |
OMIM:256020 |
Ciliary Dyskinesia, Primary, 18 |
|
Rhinitis, Decreased nasal nitric oxide, Abdominal situs ambiguus, Chronic bronchitis, Respiratory... |
OMIM:614874 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropa... |
OMIM:137950 |
Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Mesangial hypercellu... |
OMIM:616818 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
Nephrotic Syndrome, Type 23 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... |
OMIM:619201 |
Ciliary Dyskinesia, Primary, 24 |
|
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Infertility, Chronic pulmonary obst... |
OMIM:615481 |
Ciliary Dyskinesia, Primary, 12 |
|
Decreased nasal nitric oxide, Bronchiectasis, Short stature, Reduced sperm motility, Chronic pulm... |
OMIM:612650 |
Focal Segmental Glomerulosclerosis 2 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscleros... |
OMIM:603965 |
Primary Ciliary Dyskinesia |
|
Asplenia, Ventriculomegaly, Bronchiectasis, Productive cough, Airway obstruction, Wheezing, Hydro... |
ORPHA:244 |
Ciliary Dyskinesia, Primary, 27 |
|
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... |
OMIM:615504 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Microscopic hematuria |
ORPHA:2613 |
Ciliary Dyskinesia, Primary, 34 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent bronchitis, Reduced respiratory ciliary b... |
OMIM:617091 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Delayed puberty, Primary amenorrhea |
OMIM:300604 |
Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria |
OMIM:613944 |
Ciliary Dyskinesia, Primary, 45 |
|
Bronchiectasis, Immotile cilia, Chronic rhinitis, Male infertility, Recurrent respiratory infections |
OMIM:618801 |
Focal Segmental Glomerulosclerosis 5 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:613237 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:617743 |
Ciliary Dyskinesia, Primary, 23 |
|
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:615451 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Depressed nasal ridge, Short stature, Communicating hydrocephalus, Ataxia, Respiratory failure |
ORPHA:1861 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria |
OMIM:607832 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Proteinuria, Microscopic hematuria |
OMIM:161900 |
Ciliary Dyskinesia, Primary, 33 |
|
Bronchiectasis, Recurrent bronchitis, Recurrent otitis media, Chronic rhinitis, Recurrent pneumon... |
OMIM:616726 |
Ciliary Dyskinesia, Primary, 19 |
|
Rhinitis, Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary ... |
OMIM:614935 |
Nephrotic Syndrome, Type 15 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Minimal change glomerulonep... |
OMIM:617609 |
Ciliary Dyskinesia, Primary, 32 |
|
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Infertility, Chronic pulmonary obst... |
OMIM:616481 |
Ciliary Dyskinesia, Primary, 22 |
|
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... |
OMIM:615444 |
Ciliary Dyskinesia, Primary, 28 |
|
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... |
OMIM:615505 |
Ciliary Dyskinesia, Primary, 38 |
|
Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Immotile cilia, Inferti... |
OMIM:618063 |
Hurler-Scheie Syndrome |
|
Rhinitis, Abnormal pyramidal sign, Short stature, Abnormality of the tonsils, Hepatomegaly, Splen... |
ORPHA:93476 |
Felty Syndrome |
|
Anemia, Rhinitis, Recurrent respiratory infections, Arthritis, Pleuritis, Synovitis, Recurrent ph... |
ORPHA:47612 |
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 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic-uremic syndrome, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney diseas... |
OMIM:615008 |
Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus, Bronchiectasis, Productive cough, Recurrent lower respiratory tra... |
OMIM:618699 |
Ciliary Dyskinesia, Primary, 5 |
|
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:608647 |
Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... |
OMIM:614131 |
Ciliary Dyskinesia, Primary, 7 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent otitis media, Chronic rhinitis, Recurrent... |
OMIM:611884 |
Immunodeficiency 102 |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Reduced natural killer cell count,... |
OMIM:301082 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... |
OMIM:308990 |
Ciliary Dyskinesia, Primary, 42 |
|
Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chr... |
OMIM:618695 |
Proteus-Like Syndrome |
|
Hydrocephalus, Communicating hydrocephalus, Polycystic ovaries, Anteverted nares, Abnormality of ... |
ORPHA:2969 |
Ciliary Dyskinesia, Primary, 35 |
|
Decreased nasal nitric oxide, Abdominal situs ambiguus, Bronchiectasis, Productive cough, Chronic... |
OMIM:617092 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Aminoaciduria, B lymphocytopenia, Communicating hydrocephalus, Sideroblastic anemia, Ataxia, Hypo... |
OMIM:616084 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Stomatocytosis, Hypoglycorrhachia, Spontaneous hemolytic crises, Short stature, Jaundice, Communi... |
ORPHA:168577 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Ciliary Dyskinesia, Primary, 37 |
|
Bronchiectasis, Chronic rhinitis, Female infertility, Rhinorrhea, Wheezing, Goiter |
OMIM:617577 |
Icf Syndrome |
|
Anemia, Short stature, Communicating hydrocephalus, Lymphopenia, Abnormality of neutrophils, Depr... |
ORPHA:2268 |
Hyperprolactinemia |
|
Female infertility, Menorrhagia, Oligomenorrhea |
OMIM:615555 |
Beemer-Ertbruggen Syndrome |
|
Respiratory insufficiency, Wide nasal bridge, Communicating hydrocephalus, Bulbous nose, Cryptorc... |
ORPHA:1237 |
Yellow Nail Syndrome |
|
Pulmonary arterial hypertension, Rhinitis, Bronchiectasis, Pleuritis, Biliary tract neoplasm, Nep... |
ORPHA:662 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Rhinitis, B lymphocytopenia, Asthma, Recurrent bacterial upper respiratory tract infections, Recu... |
ORPHA:70593 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Nephrotic Syndrome, Type 9 |
|
Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy... |
OMIM:615573 |
Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria |
OMIM:161950 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal spermatogenesis, Abnormal meiosis |
ORPHA:488191 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Wide nose, Anomalous pulmonary venous return, Communicating hydrocephalus, Long nose |
ORPHA:2184 |
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 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 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility |
OMIM:617996 |
Myoglobinuria, Recurrent |
|
Exercise-induced myoglobinuria, Recurrent myoglobinuria |
OMIM:550500 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Chorea, Ventriculomegaly, Rigidity, Communicating hydrocephalus, Poor motor coordination, Ataxia,... |
ORPHA:25 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Conjunctivitis, Purulent rhinitis, T lymphocytopenia, B lymphocytopenia, Arthritis, Otitis media,... |
OMIM:601457 |
Pineocytoma |
|
Hydrocephalus, Episodic ataxia, Difficulty walking, Increased CSF protein concentration |
ORPHA:251912 |
Ciliary Dyskinesia, Primary, 17 |
|
Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Chronic rhinitis, Cough, Recurrent res... |
OMIM:614679 |
Ciliary Dyskinesia, Primary, 16 |
|
Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Abnormal ciliary motility, Chronic otitis me... |
OMIM:614017 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... |
OMIM:310468 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Short stature, Communicating hydrocephalus, Unilateral renal agenesis, Depressed nasal bridge, An... |
ORPHA:1064 |
Familial Nasal Acilia |
|
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Recurrent upper respir... |
ORPHA:922 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney disease, Mic... |
ORPHA:54370 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Ciliary Dyskinesia, Primary, 40 |
|
Decreased nasal nitric oxide, Infertility, Reduced respiratory ciliary beating frequency, Azoospe... |
OMIM:618300 |
Leishmaniasis |
|
Leukopenia, Anemia, Rhinitis, Abnormal macrophage morphology, Pancytopenia, Lymphadenopathy, Hepa... |
ORPHA:507 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent aphthous stomatitis, Rhinitis, Periodontitis, Acute lymphoblast... |
ORPHA:486 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Gait ataxia, Rhinitis, T lymphocytopenia, Recurrent respiratory infections, Neutropenia in presen... |
ORPHA:572 |
Nephrotic Syndrome, Type 2 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:600995 |
Papilloma Of Choroid Plexus |
|
Hydrocephalus, Hemiplegia/hemiparesis, Choroid plexus papilloma, Hypertonia |
ORPHA:2807 |
Hyperparathyroidism, Transient Neonatal |
|
Short nasal bridge, Ventriculomegaly, Wide nasal bridge, Enlarged kidney, Splenic cyst, Communica... |
OMIM:618188 |
Biemond Syndrome Type 2 |
|
Short stature, Hypogonadism, Hydrocephalus, Delayed puberty, Hypogonadotropic hypogonadism, Obesity |
ORPHA:141333 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Atypical Teratoid Rhabdoid Tumor |
|
Ataxia, Hydrocephalus, Hemiplegia/hemiparesis, Cerebral palsy |
ORPHA:99966 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly, Gait disturbance, Tremor, Kinetic tremor |
OMIM:611808 |
Galactosemia I |
|
Aminoaciduria, Increased level of galactitol in urine, Galactosuria, Albuminuria |
OMIM:230400 |
Eosinophilopenia |
|
Decreased eosinophil count, Allergic rhinitis |
OMIM:131430 |
Spermatogenic Failure 72 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:618153 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Steroid-resistant nephr... |
OMIM:614650 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Spermatogenic Failure 35 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... |
OMIM:618341 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Immotile cilia, Abnormal respiratory system physiology, Nasal polyposis, Chronic rhinitis, Sinusi... |
OMIM:242670 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Bulbous nose, Communicating hydrocephalus, Ventriculomegaly, Colpocephaly |
OMIM:615219 |
Asherman Syndrome |
|
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... |
ORPHA:137686 |
Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Glycosuria, Moderate albuminuria, Abnormality of the upper urinary tract, Renal tubula... |
ORPHA:99885 |
Osteopetrosis, Autosomal Recessive 2 |
|
Anemia, Osteomyelitis, Hydrocephalus, Pancytopenia, Hepatosplenomegaly, Mandibular osteomyelitis,... |
OMIM:259710 |
Scheie Syndrome |
|
Rhinitis, Cerebral palsy, Spastic paraparesis, Mucopolysacchariduria, Hepatomegaly, Splenomegaly |
ORPHA:93474 |
Hurler Syndrome |
|
Rhinitis, Abnormal pyramidal sign, Wide nasal bridge, Cerebral palsy, Short stature, Hydrocephalu... |
ORPHA:93473 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Rhizomelia |
OMIM:166990 |
Hec Syndrome |
|
Respiratory insufficiency, Communicating hydrocephalus, Vaginal hydrocele |
ORPHA:2119 |
Spermatogenic Failure 33 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:617965 |
Edinburgh Malformation Syndrome |
|
Failure to thrive, Hydrocephalus |
OMIM:129850 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abnormal glomerular mesangium morphology... |
ORPHA:84090 |
Methylmalonic Acidemia With Homocystinuria |
|
Failure to thrive, Hydrocephalus, Skin rash |
ORPHA:26 |
H Syndrome |
|
Hypogonadism, Bronchiectasis, Decreased testicular size, Enlarged kidney, Short stature, Hydrocep... |
ORPHA:168569 |
Chudley-Mccullough Syndrome |
|
Severe sensorineural hearing impairment, Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Abnormal renal tubule morphology, Proteinuria, Nephrotic syndrome |
ORPHA:839 |
Dermatitis, Atopic |
|
Conjunctivitis, Allergic rhinitis, Asthma, Eczema, Recurrent skin infections, Atopic dermatitis |
OMIM:603165 |
Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
Ige Responsiveness, Atopic |
|
Asthma, Eczema, Allergic rhinitis |
OMIM:147050 |
Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:614196 |
Nephrotic Syndrome, Type 3 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Foc... |
OMIM:610725 |
Juvenile Temporal Arteritis |
|
Conjunctivitis, Allergic rhinitis, Leukocytosis, Eosinophilia |
ORPHA:26137 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly, Ataxia |
OMIM:618709 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus, Hearing impairment, Periodontitis |
ORPHA:1008 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
Aicardi-Goutieres Syndrome 4 |
|
Respiratory insufficiency, Spasticity, Convex nasal ridge, Ventriculomegaly, Hydrocephalus, Pancy... |
OMIM:610333 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Nephrotic syndrome |
OMIM:617006 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus, Growth delay |
OMIM:617244 |
Bloom Syndrome |
|
Acute myeloid leukemia, Acute lymphoblastic leukemia, Decreased proportion of CD4-positive T cell... |
ORPHA:125 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Carboxypeptidase N Deficiency |
|
Allergic rhinitis |
OMIM:212070 |
Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
Spermatogenic Failure 49 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Cole-Carpenter Syndrome 1 |
|
Short stature, Hydrocephalus, Communicating hydrocephalus |
OMIM:112240 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia, Hydrocephalus, Wide nasal bridge |
OMIM:209970 |
Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Proteinuria, Hematuria |
ORPHA:2134 |
Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... |
ORPHA:730 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Pgm3-Cdg |
|
T lymphocytopenia, Bronchiectasis, Eczema, Bone marrow hypocellularity, Eosinophilia, Decreased p... |
ORPHA:443811 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Focal segmental glo... |
OMIM:613092 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... |
OMIM:611555 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome |
OMIM:613913 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Anteverted nares, Bulbous nose, Intrauterine growth retardation, Hyd... |
ORPHA:1780 |
Alpha-Mannosidosis, Infantile Form |
|
Clumsiness, Communicating hydrocephalus, Pancytopenia, Hepatosplenomegaly, Spastic paraplegia, At... |
ORPHA:309282 |
Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Allergic rhinitis, Asthma, Skin rash, Jaundice, Hepatomegaly, Exocrine pancreatic insufficiency, ... |
OMIM:612714 |
Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... |
ORPHA:1646 |
Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Male infertility, Cough, Nasal... |
OMIM:300991 |
Spermatogenic Failure 40 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:620084 |
Microsporidiosis |
|
Prostatitis, Biliary tract abnormality, Myositis, Decreased proportion of CD4-positive helper T c... |
ORPHA:2552 |
Masa Syndrome |
|
Shuffling gait, Ventriculomegaly, Short stature, Hydrocephalus, Spastic paraplegia, Paraplegia, L... |
OMIM:303350 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Hydronephrosis |
OMIM:619269 |
Denys-Drash Syndrome |
|
Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome |
ORPHA:220 |
Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... |
OMIM:617960 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Renal insufficiency, Myoglobinuria |
OMIM:255110 |
Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
Ciliary Dyskinesia, Primary, 14 |
|
Chronic bronchitis, Bronchiectasis, Polysplenia, Reduced sperm motility, Chronic sinusitis, Recur... |
OMIM:613807 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Short stature, Small for gestational age, Failure to thrive, Severe intrauterine growth retardati... |
ORPHA:231144 |
Biemond Syndrome Ii |
|
Hydrocephalus, Short stature |
OMIM:210350 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Intrauterine growth retardation, Short stature |
ORPHA:2050 |
Diencephalic Syndrome |
|
Macrotia, Cachexia, Decreased body weight, Hydrocephalus |
ORPHA:1672 |
Central Precocious Puberty |
|
Hydrocephalus, Increased body weight, Obesity, Proportionate short stature, Acne |
ORPHA:759 |
Immunodeficiency 58 |
|
Nasal congestion, Recurrent aphthous stomatitis, Chronic bronchitis, Bronchiectasis, Allergic rhi... |
OMIM:618131 |
Gómez-López-Hernández Syndrome |
|
Short stature, Hydrocephalus, Ataxia, Impaired pain sensation, Anteverted nares |
ORPHA:1532 |
Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
Selective Igm Deficiency |
|
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Decreased pro... |
ORPHA:331235 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... |
OMIM:619528 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot pr... |
OMIM:619155 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Recurrent... |
ORPHA:183675 |
Spermatogenic Failure 63 |
|
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Asthma, Recurrent otitis media, Cryptorchidism, Obstructive sleep apnea, Intrauterine growth reta... |
OMIM:619841 |
Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Myoglobinuria |
OMIM:160010 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Poor fine motor coordination, Somatic sensory dysfunction, Paresthesia, Postural tremor, Hydrocep... |
ORPHA:99947 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism |
OMIM:618110 |
Adenine Phosphoribosyltransferase Deficiency |
|
Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect... |
ORPHA:976 |
Focal Segmental Glomerulosclerosis 1 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:603278 |
Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... |
ORPHA:529970 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Short stature, Hydrocephalus, Azoospermia, Hypergonadotropic hypogonadism, Obesity |
ORPHA:2183 |
Amyloidosis, Familial Visceral |
|
Nephropathy, Hematuria, Proteinuria, Nephrotic syndrome |
OMIM:105200 |
Lujo Hemorrhagic Fever |
|
Leukopenia, Maculopapular exanthema, Rhinitis, Renal insufficiency, Fulminant hepatitis, Resting ... |
ORPHA:319213 |
Immunodeficiency 23 |
|
Somatic sensory dysfunction, Cortical myoclonus, Hemolytic anemia, Bronchiectasis, Allergic rhini... |
OMIM:615816 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Sensorineural hearing impairment, Short stature, Premature ovarian insufficiency, Failure to thri... |
OMIM:619518 |
Mucopolysaccharidosis Type 2 |
|
Wide nose, Wide nasal bridge, Hip osteoarthritis, Short stature, Enlarged tonsils, Communicating ... |
ORPHA:580 |
Dandy-Walker Syndrome |
|
Truncal ataxia, Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
Alexander Disease |
|
Spasticity, Palatal tremor, Hydrocephalus, Ataxia, Babinski sign, Dysmetria, Increased CSF protei... |
OMIM:203450 |
Paroxysmal Hemicrania |
|
Rhinorrhea, Focal sensory seizure with olfactory features, Rhinitis |
ORPHA:157835 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Acute kidney injury, Glomerulonephritis, Glomerular C3 deposition, Proteinuri... |
ORPHA:567544 |
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 |
Hypouricemia, Renal, 1 |
|
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... |
OMIM:220150 |
Holoprosencephaly 5 |
|
Macrotia, Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosencepha... |
OMIM:609637 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Spasticity, Multicystic kidney dysplasia, Ventriculomegaly, Decreased testicular size, Anencephal... |
OMIM:615287 |
1Q21.1 Microduplication Syndrome |
|
Failure to thrive, Hydrocephalus |
ORPHA:250994 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome |
OMIM:608709 |
Shprintzen-Goldberg Syndrome |
|
Ventriculomegaly, Communicating hydrocephalus, Apnea, Anteverted nares, Cryptorchidism |
ORPHA:2462 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Pettigrew Syndrome |
|
Gait ataxia, Spasticity, Prominent nose, Ventriculomegaly, Choreoathetosis, Hydrocephalus, Dandy-... |
OMIM:304340 |
Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Moderate albuminuria |
OMIM:614231 |
Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
Nephronophthisis 13 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glomerular subepithelial immune-comp... |
OMIM:614377 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
Developmental And Epileptic Encephalopathy 36 |
|
Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Hydrocephalus, Anteverted ... |
OMIM:300884 |
Epilepsy, Pyridoxine-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Premature Ovarian Failure 13 |
|
Female infertility, Amenorrhea, Oligomenorrhea |
OMIM:617442 |
Developmental And Epileptic Encephalopathy 49 |
|
Spasticity, Prominent nose, Ventriculomegaly, Myoclonus, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
Familial Cold Autoinflammatory Syndrome 3 |
|
Allergic rhinitis, Asthma, Recurrent sinopulmonary infections, Recurrent otitis media, Hashimoto ... |
OMIM:614468 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea, St... |
OMIM:612310 |
Fried Syndrome |
|
Macrotia, Hydrocephalus, Hearing impairment |
ORPHA:85335 |
Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Gait ataxia, Communicating hydrocephalus, Prominent nasal bridge, Ventriculomegaly |
OMIM:617011 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Anemia, Hydrocephalus, Apnea, Chronic rhinitis, Lymphadenopathy,... |
ORPHA:667 |
Congenital Toxoplasmosis |
|
Ventriculomegaly, Hydrocephalus, Intrauterine growth retardation, Failure to thrive in infancy, H... |
ORPHA:858 |
Galloway-Mowat Syndrome 8 |
|
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... |
OMIM:618349 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Dandy-Walker malformation |
OMIM:617967 |
Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Moderate albuminuria, Membranoproliferative glomerulonephritis, Microscopic hematuria |
OMIM:619525 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Ring Chromosome Y Syndrome |
|
Abnormal spermatogenesis, Short stature, Azoospermia, Male hypogonadism, Female infertility, Male... |
ORPHA:261529 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Gait ataxia, Ventriculomegaly, Communicating hydrocephalus, Difficulty walking, Prominent nasal b... |
ORPHA:457359 |
Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head |
OMIM:243060 |
Spermatogenic Failure 16 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:619044 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Anemia, Spastic tetraplegia, Hydrocephalus, Hypertonia, Thrombocytopenia |
OMIM:619302 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
Isochromosomy Yp |
|
Decreased testicular size, Male infertility, Azoospermia |
ORPHA:98797 |
Dent Disease 2 |
|
Aminoaciduria, Proximal tubulopathy, Low-molecular-weight proteinuria, Nephrocalcinosis, Hypercal... |
OMIM:300555 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Proteinuria |
OMIM:245900 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Truncal obesity, Abdominal obesity, Short stature, Postnatal growth retardation |
OMIM:618160 |
Dopamine Beta-Hydroxylase Deficiency |
|
Anemia, Rhinitis, Retrograde ejaculation, Nocturia, Elevated urinary dopamine, Dyspnea |
ORPHA:230 |
Alg12-Cdg |
|
Wide nose, Ventriculomegaly, B lymphocytopenia, Recurrent pharyngitis, Intrauterine growth retard... |
ORPHA:79324 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Hematuria, Abnormal renal physiology, Chronic kidney disease |
OMIM:123550 |
Frasier Syndrome |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:136680 |
Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... |
OMIM:613496 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Stage 5 chronic kidney disease, Microscopic hematuria, Minimal change glomerulonephritis, Macrosc... |
ORPHA:567546 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Erythroderma, Eczema, Allergic rhinitis |
ORPHA:330064 |
Imerslund-Grasbeck Syndrome 1 |
|
Proteinuria, Microscopic hematuria |
OMIM:261100 |
Temple Syndrome |
|
Short stature, Small for gestational age, Hydrocephalus, Obesity, Postnatal growth retardation |
ORPHA:254516 |
Fanconi Renotubular Syndrome 3 |
|
Glycosuria, Aminoaciduria, Hyperphosphaturia, Low-molecular-weight proteinuria |
OMIM:615605 |
Congenital Hydrocephalus |
|
Sensorineural hearing impairment, Ventriculomegaly, Hydrocephalus, Posteriorly rotated ears, Colp... |
ORPHA:2185 |
C3 Glomerulopathy |
|
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro... |
ORPHA:329918 |
Degcags Syndrome |
|
Ventriculomegaly, Hepatosplenomegaly, Hepatomegaly, Vocal cord paralysis, Pneumonia, Prominent no... |
OMIM:619488 |
Growth Hormone Deficiency, Isolated Partial |
|
Short stature, Postnatal growth retardation |
OMIM:615925 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Premature Ovarian Failure 20 |
|
Female infertility, Secondary amenorrhea |
OMIM:619938 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Spastic tetraparesis, Tremor, Hydrocephalus, Broad-based gait |
OMIM:619470 |
Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Proximal tubulopathy, Glycosuria, Generalized aminoaciduria, Decreased g... |
OMIM:613388 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Nephrotic syndrome |
OMIM:614652 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Small for gestational age, Hydrocephalus, Protruding ear |
OMIM:618302 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Acute kidney injury, Dysuria, Renal tubular epithelial necrosis, Moderate albuminuria, Hematuria,... |
ORPHA:95455 |
Glycogen Storage Disease X |
|
Renal insufficiency, Myoglobinuria |
OMIM:261670 |
Hereditary Renal Hypouricemia |
|
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... |
ORPHA:94088 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Microscopic hematuria |
ORPHA:79087 |
Nephrotic Syndrome, Type 8 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Thin glomerular ... |
OMIM:615244 |
Renal Hypoplasia |
|
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... |
ORPHA:93101 |
Temple Syndrome |
|
Short stature, Small for gestational age, Hydrocephalus, Recurrent otitis media, Overweight, Trun... |
OMIM:616222 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Ichthyosis Prematurity Syndrome |
|
Asthma, Neonatal asphyxia, Erythroderma, Allergic rhinitis |
OMIM:608649 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:2668 |
Eosinophilic Gastroenteritis |
|
Anemia, Allergic rhinitis, Asthma, Leukocytosis, Eosinophilia, Atopic dermatitis |
ORPHA:2070 |
Griscelli Syndrome |
|
Leukopenia, Spasticity, Encephalocele, Short stature, Hepatitis, Jaundice, Hydrocephalus, Ataxia,... |
ORPHA:381 |
Classic Galactosemia |
|
Decreased fertility in females, Primary amenorrhea, Gait imbalance, Postural tremor, Secondary am... |
ORPHA:79239 |
Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... |
OMIM:203780 |
Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Lacticaciduria, Low-mole... |
OMIM:134600 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:614455 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Rhinitis, Recurrent respiratory infections, Absent nipple, Depressed nasal bridge, Hypoplastic ni... |
OMIM:614941 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Al Amyloidosis |
|
Nephrotic syndrome, Renal interstitial amyloid deposits, Abnormality of the kidney, Albuminuria, ... |
ORPHA:85443 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Mirage Syndrome |
|
Leukopenia, Anemia, Aspiration pneumonia, Short stature, Microphallus, Decreased testicular size,... |
OMIM:617053 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Episodic ataxia, Difficulty walking, Increased CSF protein concentration |
ORPHA:251915 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Isochromosomy Yq |
|
Decreased testicular size, Male infertility, Azoospermia |
ORPHA:98798 |
Galloway-Mowat Syndrome 5 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:617731 |
Central Neurocytoma |
|
Paresthesia, Hydrocephalus, Abnormal lateral ventricle morphology, Ataxia, Babinski sign, Pain in... |
ORPHA:73256 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Whipple Disease |
|
Respiratory insufficiency, Anemia, Abnormal pyramidal sign, Arthritis, Myoclonus, Hydrocephalus, ... |
ORPHA:3452 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Obesity, Hydrocephalus, Hypogonadism |
OMIM:601794 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Foamy urine, Diffuse mesangial... |
ORPHA:656 |
Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis |
OMIM:618913 |
Netherton Syndrome |
|
Hypereosinophilia, Asthma, Allergic rhinitis, Erythroderma |
OMIM:256500 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Low-set ears, Hydrocephalus, Short stature |
ORPHA:1516 |
Williams-Beuren Region Duplication Syndrome |
|
Ventriculomegaly, Short stature, Small for gestational age, Hydrocephalus, Failure to thrive, Chr... |
OMIM:609757 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia, Hydrocephalus |
ORPHA:363717 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic fibrosis, Ventriculomegaly, Short stature, Oculomotor apraxia, Hydrocephalus, Cholestasis... |
OMIM:615630 |
Acalvaria |
|
Spina bifida, Holoprosencephaly, Hydrocephalus |
ORPHA:945 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Progressive cerebellar ataxia, Male infertility, Azoospermia |
ORPHA:276183 |
6P22 Microdeletion Syndrome |
|
Low-set ears, Hydrocephalus, Hearing impairment, Overfolded helix |
ORPHA:251046 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:225 |
Krabbe Disease |
|
Failure to thrive, Hydrocephalus, Hearing impairment, Increased CSF protein concentration |
OMIM:245200 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Chronic rhinitis |
OMIM:615225 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Frontal Encephalocele |
|
Spina bifida, Hydrocephalus, Encephalocele |
ORPHA:1931 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal amyloidosis, Renal insufficiency, Proteinuria |
OMIM:134610 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Hypospadias, Albuminuria, Renal cortical microcysts, Hydronephrosis |
OMIM:214100 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Allergic rhinitis, Asthma, Hydrocephalus, Eczema, Annular pancreas |
OMIM:618162 |
Systemic Sclerosis |
|
Acute kidney injury, Abnormality of the kidney, Glomerulonephritis, Albuminuria, Proteinuria, Ren... |
ORPHA:90291 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria... |
OMIM:612925 |
Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria |
ORPHA:54057 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus, Short nose, Spastic tetraparesis, Hypospadias, Short columella, Depressed nasal br... |
ORPHA:171839 |
Lcat Deficiency |
|
Renal insufficiency, Acute kidney injury, Stage 5 chronic kidney disease, Decreased glomerular fi... |
ORPHA:650 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:301006 |
Cednik Syndrome |
|
Proteinuria, Nephrotic syndrome |
ORPHA:66631 |
Glycogen Storage Disease Xi |
|
Renal insufficiency, Myoglobinuria |
OMIM:612933 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Proteinuria |
OMIM:620010 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Wide nose, Wide nasal bridge, Respiratory distress, Hypoplastic spleen, Intrauterine growth retar... |
ORPHA:89844 |
Pallister-Hall-Like Syndrome |
|
Short stature, Anterior hypopituitarism, Hydrocephalus, Pulmonary hypoplasia, Short nose, Depress... |
OMIM:241800 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria |
OMIM:612924 |
Anti-Glomerular Basement Membrane Disease |
|
Renal insufficiency, Glomerulopathy, Proteinuria, Hematuria |
ORPHA:375 |
Multiple Sulfatase Deficiency |
|
Spasticity, Ventriculomegaly, Short stature, Hydrocephalus, Ataxia, Mucopolysacchariduria, Hepato... |
OMIM:272200 |
Familial Male-Limited Precocious Puberty |
|
Macroorchidism, Long penis, Oligospermia, Male infertility, Acne |
ORPHA:3000 |
Infantile Sialic Acid Storage Disease |
|
Nephrotic syndrome, Hydrocephalus, Hepatomegaly, Anteverted nares, Vacuolated lymphocytes, Spleno... |
OMIM:269920 |
Functioning Gonadotropic Adenoma |
|
Pituitary hypothyroidism, Decreased response to growth hormone stimulation test, Impotence, Enlar... |
ORPHA:91348 |
Preeclampsia |
|
Acute kidney injury, Abnormality of the kidney, Proteinuria, Chronic kidney disease |
ORPHA:275555 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele |
OMIM:182940 |
Glycogen Storage Disease V |
|
Myoglobinuria, Dark urine |
OMIM:232600 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Wide nasal bridge, Truncal ataxia, Hydrocephalus, Depressed nasal bridg... |
OMIM:220220 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus, Hearing impairment |
OMIM:615191 |
Arnold-Chiari Malformation Type Ii |
|
Meningocele, Somatic sensory dysfunction, Spasticity, Myelomeningocele, Ventriculomegaly, Aqueduc... |
ORPHA:1136 |
Dent Disease |
|
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re... |
ORPHA:1652 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Short stature, Clumsiness, Hydrocephalus, Short nose, Anteverted nares, Prominent nasal bridge |
OMIM:300558 |
Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Allergic rhinitis |
ORPHA:90368 |
Oxoglutaric Aciduria |
|
Short stature, Hydrocephalus, Ataxia, Abnormal urine alpha-ketoglutarate concentration, Abnormal ... |
ORPHA:31 |
Ovarian Dysgenesis 3 |
|
Delayed puberty, Female infertility, Primary amenorrhea |
OMIM:614324 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria |
OMIM:612926 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Male infertility, Recurrent otitis media |
OMIM:618948 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Underdeveloped nasal alae, Rhinitis, Absent nipple, Eczema, Respiratory distress, Short nose, Dep... |
OMIM:305100 |
Aa Amyloidosis |
|
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Proteinuria, Mucopolysacchariduria, Nephrotic syndrome |
OMIM:215250 |
Bresek Syndrome |
|
Vesicoureteral reflux, Convex nasal ridge, Decreased testicular size, Hydrocephalus, Growth delay... |
ORPHA:85284 |
Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Hydronephrosis, Tubulointerstitial nephritis, Abnormal ureter morpho... |
ORPHA:449395 |
Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Reduced sperm motility, Oligospermia, Male infertility... |
OMIM:618433 |
Nasu-Hakola Disease |
|
Chorea, Spasticity, Ventriculomegaly, Oculomotor apraxia, Hydrocephalus, Acute leukemia |
ORPHA:2770 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Short stature, Arthritis, Hydrocephalus, Mandibular osteomyelitis, Hearing impairm... |
ORPHA:53 |
Craniotelencephalic Dysplasia |
|
Low-set, posteriorly rotated ears, Arrhinencephaly, Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Microtia, Hydrocephalus, Intrauterine growth retardation, Hearing impairment |
ORPHA:1914 |
Dent Disease 1 |
|
Renal phosphate wasting, Aminoaciduria, Proximal tubulopathy, Stage 5 chronic kidney disease, Gly... |
OMIM:300009 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Macrotia, Short stature, Hydrocephalus, Low-set, posteriorly rotated ears, Hearing impairment |
ORPHA:2701 |
Pontocerebellar Hypoplasia, Type 7 |
|
Spasticity, Ventriculomegaly, Wide nasal bridge, Oculomotor apraxia, Myoclonus, Hydrocephalus, Ch... |
OMIM:614969 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Hydrocephalus |
OMIM:616521 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Ventriculomegaly, Short stature, Hydrocephalus, Holoprosencephaly, Hearing impairment |
ORPHA:93274 |
Thalidomide Embryopathy |
|
Chronic rhinitis, Short stature |
ORPHA:3312 |
Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... |
OMIM:104200 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Proteinuria, Nephrotic syndrome |
ORPHA:1192 |
Hydrolethalus Syndrome 2 |
|
Anencephaly, Hydrocephalus, Ventriculomegaly |
OMIM:614120 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Acute kidney injury, Stage 5 chronic kidney disease, Minimal change glomer... |
ORPHA:567548 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Renal insufficiency, Myoglobinuria |
ORPHA:2364 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macrotia, Hydrocephalus |
OMIM:300886 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Hydrocephalus, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Gracile Bone Dysplasia |
|
Asplenia, Short stature, Hydrocephalus, Hypoplastic spleen, Micropenis |
OMIM:602361 |
Alagille Syndrome 2 |
|
Renal insufficiency, Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Proteinuria |
OMIM:610205 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Intrauterine growth retardation, Ventriculomegaly |
ORPHA:272 |
Thanatophoric Dysplasia |
|
Ventriculomegaly, Hydrocephalus, Disproportionate short-limb short stature, Intrauterine growth r... |
ORPHA:2655 |
Methylcobalamin Deficiency Type Cble |
|
Ventriculomegaly, Hydrocephalus, Failure to thrive, Hearing impairment, Intrauterine growth retar... |
ORPHA:2169 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Microphthalmia, Syndromic 9 |
|
Respiratory insufficiency, Agenesis of pulmonary vessels, Wide nasal bridge, Short stature, Bilat... |
OMIM:601186 |
Joubert Syndrome With Hepatic Defect |
|
Intrahepatic biliary atresia, Cirrhosis, Multicystic kidney dysplasia, Renal insufficiency, Oculo... |
ORPHA:1454 |
Nephronophthisis 18 |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Hydrocephalus, Portal fibrosis, Cho... |
OMIM:615862 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Nephrolithiasis, Obstructive azoospermia |
OMIM:301060 |
Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... |
OMIM:619949 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly, Large earlobe |
OMIM:602501 |
Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... |
OMIM:616730 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Stage 5 chronic kidney disease, Renal insufficiency, Bilateral renal atrophy, Proteinuria |
OMIM:166300 |
Coach Syndrome 2 |
|
Hepatic fibrosis, Oculomotor apraxia, Hydrocephalus, Apneic episodes in infancy, Portal fibrosis,... |
OMIM:619111 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ventriculomegaly, Wide nasal bridge, Hydrocephalus, Short nose, Anteverted nares, Cryptorchidism |
OMIM:618577 |
Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Prominent nose, Short stature, Hematuria, Epistaxis, Throm... |
OMIM:185070 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute kidney injury, Myoglobinuria |
OMIM:268200 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Ventriculomegaly, Short stature, Abnormal auditory evoked poten... |
OMIM:109120 |
Mucopolysaccharidosis, Type Ii |
|
Tracheobronchomalacia, Short stature, Asthma, Dermatan sulfate excretion in urine, Hydrocephalus,... |
OMIM:309900 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Ventriculomegaly, Short stature, Hydrocephalus, Failure to thrive, Hearing impairment, Intrauteri... |
OMIM:619833 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Low-set ears, Posteriorly rotated ears |
ORPHA:163961 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Spasticity, Hydrocephalus, Abnormal pyramidal sign, Babinski sign |
OMIM:615599 |
Metatropic Dysplasia |
|
Aplasia/Hypoplasia of the lungs, Severe short stature, Depressed nasal bridge, Hydrocephalus |
ORPHA:2635 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Cirrhosis, Proximal tubulopathy, Ventriculomegaly, Hydrocephalus, Unilateral renal agenesis, Panc... |
OMIM:614576 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Spinal dysraphism, Encephalocele, Short stature, Anencephaly, Hydrocephalus, Holopro... |
ORPHA:1908 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Spasticity, Hydrocephalus, Abnormal pyramidal sign, Babinski sign |
ORPHA:397951 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, ... |
ORPHA:228302 |
Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
B4Galt1-Cdg |
|
Inflammatory abnormality of the skin, Small for gestational age, Hydrocephalus, Low-set ears, Dan... |
ORPHA:79332 |
Vacterl Association With Hydrocephalus |
|
Respiratory insufficiency, Respiratory failure, Aqueductal stenosis, Hydrocephalus, Stillbirth, R... |
OMIM:276950 |
Galloway-Mowat Syndrome 10 |
|
Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial sclerosis, Pr... |
OMIM:619609 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Eosinophilic infiltration of the esophagus, Allergic rhinitis, Asthma, Eosinophilic microabscess ... |
ORPHA:411696 |
Edinburgh Malformation Syndrome |
|
Failure to thrive, Hydrocephalus, Low-set ears |
ORPHA:1895 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Short stature, Hydrocephalus, Low-set ears, Intrauterine growth retardation |
OMIM:300863 |
Myh9-Related Disease |
|
Nephropathy, Renal insufficiency, Nephritis, Proteinuria |
ORPHA:182050 |
Renal Hypoplasia, Bilateral |
|
Vesicoureteral reflux, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria, Renal cyst, D... |
ORPHA:97362 |
Galloway-Mowat Syndrome 4 |
|
Congenital nephrotic syndrome, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesang... |
OMIM:617730 |
Neonatal Lupus Erythematosus |
|
Malar rash, Anemia, Maculopapular exanthema, Abnormality of the liver, Hemolytic anemia, Skin ras... |
ORPHA:398124 |
Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Cryptorchidism, Elevated circulating follicle stimul... |
OMIM:620103 |
Tenorio Syndrome |
|
Wide nose, Recurrent aphthous stomatitis, Ventriculomegaly, Cerebral palsy, Clumsiness, Hydroceph... |
OMIM:616260 |
Melanosis, Neurocutaneous |
|
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation |
OMIM:249400 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Gait ataxia, Ventriculomegaly, Inability to walk, Hydrocephalus, Unilateral renal agenesis, Antev... |
OMIM:616362 |
Frasier Syndrome |
|
Nephroblastoma, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Proteinuria, Focal segme... |
ORPHA:347 |
Emanuel Syndrome |
|
Macrotia, Ventriculomegaly, Hypogonadism, Infertility, Hydrocephalus, Recurrent otitis media, Fai... |
ORPHA:96170 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal nasal morphology, Depressed nasal bridge, Hydrocephalus |
ORPHA:83473 |
Nephrotic Syndrome, Type 1 |
|
Renal tubular atrophy, Congenital nephrotic syndrome, Glomerular sclerosis, Diffuse mesangial scl... |
OMIM:256300 |
Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Abnormal location of ears, Ventriculomegaly, Short stature |
OMIM:218350 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Small for gestational age, Disproportionate short-trunk short stature, Hydrocephalus |
OMIM:613330 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Proteinuria |
OMIM:616026 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Oculomotor apraxia, Hydrocephalus, Gait disturbance, Ataxia, Apnea, Nephropathy, A... |
ORPHA:220497 |
Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Ventriculomegaly, Spastic tetraplegia, Limb hypertonia, Short stature, Hydrocephalus, Ext... |
OMIM:259720 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Spina bifida, Hydrocephalus, Ataxia, Cervical myelopathy, Opisthotonus, Inspira... |
OMIM:207950 |
Mucopolysaccharidosis Type 1 |
|
Splenomegaly, Paresthesia, Short stature, Abnormal nasal morphology, Hydrocephalus, Hemiplegia/he... |
ORPHA:579 |
Chromosome 17P13.1 Deletion Syndrome |
|
Ankle clonus, Hydrocephalus, Prominent nasal bridge, Anteverted nares |
OMIM:613776 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Aminoaciduria, Renal tubular acidosis, Glycosuria, Nephropathy, Nephrocalcinosis, Proteinuria |
OMIM:613404 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Renal artery stenosis, Proteinuria |
OMIM:209010 |
Nephrotic Syndrome, Type 14 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mes... |
OMIM:617575 |
Spermatogenic Failure 2 |
|
Oligospermia, Male infertility, Azoospermia, Non-obstructive azoospermia |
OMIM:108420 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Fatigable weakness of swallowing muscles, Proteinur... |
ORPHA:436271 |
Muscle-Eye-Brain Disease |
|
Meningocele, Hydrocephalus, Hemiplegia/hemiparesis, Gait disturbance, Holoprosencephaly, Hypertonia |
ORPHA:588 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus |
OMIM:304100 |
Galloway-Mowat Syndrome 6 |
|
Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:618347 |
Emanuel Syndrome |
|
Macrotia, Ventriculomegaly, Chronic oral candidiasis, Hydrocephalus, Recurrent sinusitis, Recurre... |
OMIM:609029 |
Meckel Syndrome, Type 3 |
|
Hepatic fibrosis, Multicystic kidney dysplasia, Hydrocephalus, Malformation of the hepatic ductal... |
OMIM:607361 |
Optic Pathway Glioma |
|
Hydrocephalus, Growth delay |
ORPHA:2086 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Glomerular basement membrane lamellation, Stage 5 chronic kidney disease, Hematuria, Abnormal ren... |
OMIM:308940 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Sensorineural hearing impairment, Hydrocephalus, Failure to thrive, Intrauterine growth retardati... |
OMIM:612938 |