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Gene: Stk36 MGI:1920831

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Gene Summary

Name:
serine/threonine kinase 36
Synonyms:
Fused,  1700112N14Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal sinus arrhythmia Stk36em1(IMPC)J HET Early adult 2.58×10-05
increased prepulse inhibition Stk36em1(IMPC)J HET Early adult 4.10×10-05
increased urine microalbumin level Stk36em1(IMPC)J HET Early adult 2.79×10-16

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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Eye Morphology

Images Slit Lamp

1 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

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PDF thumbnail PDF
Electroretinography 2

Rod and cone PDF

4 Images

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Human diseases caused by Stk36 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Stk36 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Primary Ciliary Dyskinesia
Asplenia, Chronic otitis media, Abnormal sperm motility, Male infertility, Neonatal respiratory d... ORPHA:244
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436

The table below shows human diseases predicted to be associated to Stk36 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Stk36

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Stk36.

No publications found that use IMPC mice or data for Stk36.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Stk36em1(IMPC)J Indel Mice
Stk36tm380652(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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