banner
Genes Phenotypes Help, News, Blog

Gene: Stk36 MGI:1920831

Log in to follow

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
increased urine microalbumin level Stk36em1(IMPC)J HET Early adult 2.79×10-16
increased prepulse inhibition Stk36em1(IMPC)J HET Early adult 4.10×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Eye Morphology

Images Ophthalmoscopy

2 Images

View images
X-ray

XRay Images Forepaw

9 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

9 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

9 Images

View images
X-ray

XRay Images Skull Lateral Orientation

9 Images

View images
Eye Morphology

Images Slit Lamp

1 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

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

7 Images

View images
PDF thumbnail PDF
Electroretinography 2

Rod and cone PDF

4 Images

View images

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
Recurrent sinopulmonary infections, Chronic otitis media, Chronic sinusitis, Atelectasis, Aspleni... ORPHA:244
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Recurrent otitis media, Recurrent pneumonia, Redu... 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
Renal insufficiency, Proteinuria, Albuminuria OMIM:618884
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Proteinuria, Glomerulopathy, Renal insufficiency OMIM:611771
Nephrotic Syndrome, Type 16
Minimal change glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome OMIM:617783
Hyperprolinemia Type 1
Proteinuria, Nephropathy, Prolinuria ORPHA:419
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Chronic sinusitis, Atelectasis, Nasal polyposis, Asplenia, Communicating hy... OMIM:244400
Nephrotic Syndrome, Type 18
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... OMIM:618178
Nephrotic Syndrome, Type 20
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... OMIM:301028
Focal Segmental Glomerulosclerosis 8
Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:616032
Glomerulopathy With Fibronectin Deposits 2
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephroti... OMIM:601894
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, P... OMIM:615482
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, Cough, Chronic rhinitis, ... OMIM:612444
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomeruloscleros... OMIM:616002
Ciliary Dyskinesia, Primary, 26
Neonatal respiratory distress, Recurrent respiratory infections, Chronic bronchitis, Respiratory ... OMIM:615500
Nephrotic Syndrome, Type 17
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... OMIM:618176
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Chronic rhin... OMIM:612649
Focal Segmental Glomerulosclerosis 10
Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Minimal change glomerulonephrit... OMIM:256020
Ciliary Dyskinesia, Primary, 18
Neonatal respiratory distress, Immotile sperm, Chronic bronchitis, Respiratory insufficiency due ... OMIM:614874
Glomerulopathy With Fibronectin Deposits 1
Microscopic hematuria, Proteinuria, Glomerulopathy, Stage 5 chronic kidney disease, Renal insuffi... OMIM:137950
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesangial hypercel... OMIM:616818
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Chronic rhinitis, Decreased nasal n... OMIM:615481
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Chronic otitis media, Chronic sinusitis, Atelectasis, Aspleni... ORPHA:244
Nephrotic Syndrome, Type 23
Proteinuria, Mesangial hypercellularity, Podocyte foot process effacement, Minimal change glomeru... OMIM:619201
Ciliary Dyskinesia, Primary, 12
Neonatal respiratory distress, Recurrent respiratory infections, Chronic otitis media, Chronic si... OMIM:612650
Focal Segmental Glomerulosclerosis 2
Proteinuria, Stage 5 chronic kidney disease, Chronic kidney disease, Nephrotic syndrome, Focal se... OMIM:603965
Nail-Patella-Like Renal Disease
Microscopic hematuria, Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:2613
Ciliary Dyskinesia, Primary, 27
Neonatal respiratory distress, Recurrent respiratory infections, Chronic sinusitis, Chronic bronc... OMIM:615504
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Immotile sperm, Chronic rhinitis, Decreased nasal nitric oxide, Br... OMIM:617091
Premature Ovarian Failure 2B
Delayed puberty, Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hematuria, Nephritis OMIM:613944
Ciliary Dyskinesia, Primary, 45
Recurrent respiratory infections, Chronic rhinitis, Bronchiectasis, Male infertility, Immotile cilia OMIM:618801
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 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney di... OMIM:613237
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Chronic bronchitis, Chronic rhinitis, Respirator... OMIM:615451
Thoracic Dysplasia-Hydrocephalus Syndrome
Ataxia, Communicating hydrocephalus, Short stature, Respiratory failure, Depressed nasal ridge ORPHA:1861
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria OMIM:607832
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephritis OMIM:161900
Ciliary Dyskinesia, Primary, 33
Atelectasis, Cough, Recurrent lower respiratory tract infections, Chronic rhinitis, Recurrent oti... OMIM:616726
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Nasal polyposis, Chronic bronchitis, Respiratory insufficiency ... OMIM:614935
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 chr... OMIM:617609
Ciliary Dyskinesia, Primary, 32
Neonatal respiratory distress, Recurrent respiratory infections, Chronic sinusitis, Chronic pulmo... OMIM:616481
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi... OMIM:615444
Ciliary Dyskinesia, Primary, 28
Neonatal respiratory distress, Recurrent respiratory infections, Chronic bronchitis, Respiratory ... OMIM:615505
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, Productive cough, Decreas... OMIM:618063
Hurler-Scheie Syndrome
Abnormal pyramidal sign, Hepatomegaly, Short stature, Abnormality of the tonsils, Rhinitis, Splen... ORPHA:93476
Felty Syndrome
Recurrent respiratory infections, Pleuritis, Chronic otitis media, Anemia, Bone marrow hypocellul... ORPHA:47612
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
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
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Chronic sinusitis, Productive cough, Recurrent lower respiratory t... OMIM:618699
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hematuria... OMIM:614131
Ciliary Dyskinesia, Primary, 7
Reduced FEV1/FVC ratio, Restrictive ventilatory defect, Abnormal ciliary motility, Cough, Chronic... OMIM:611884
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ... OMIM:301082
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Nasal polyposis, Respiratory insufficiency, Chronic rhinitis, Decr... OMIM:618695
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Microscopic hematuria, Renal tubular atrophy, Nephrocalcinosis, Glycosuria, Beta 2-microglobulinu... OMIM:308990
Proteus-Like Syndrome
Hydrocephalus, Communicating hydrocephalus, Polycystic ovaries, Abnormality of the parathyroid gl... ORPHA:2969
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, Nasal polyposis, Producti... OMIM:617092
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Nephrocalcinosis, Ataxia, Communicating hydrocephalus, Sideroblastic anemia, B lymphocytopenia, A... OMIM:616084
Hereditary Cryohydrocytosis With Reduced Stomatin
Hepatosplenomegaly, Jaundice, Ataxia, Spontaneous hemolytic crises, Communicating hydrocephalus, ... ORPHA:168577
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Icf Syndrome
Recurrent respiratory infections, Anemia, Communicating hydrocephalus, Abnormality of neutrophils... ORPHA:2268
Hyperprolactinemia
Oligomenorrhea, Female infertility, Menorrhagia OMIM:615555
Yellow Nail Syndrome
Recurrent respiratory infections, Pleuritis, Pulmonary arterial hypertension, Dyspnea, Cough, Bil... ORPHA:662
Ciliary Dyskinesia, Primary, 37
Goiter, Chronic rhinitis, Female infertility, Bronchiectasis, Rhinorrhea, Wheezing OMIM:617577
Beemer-Ertbruggen Syndrome
Cryptorchidism, Respiratory insufficiency, Communicating hydrocephalus, Thrombocytopenia, Wide na... ORPHA:1237
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Atopic dermatitis, Sinusitis, B lymphocytopenia, Recurren... ORPHA:70593
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis, Focal segmental glomeruloscler... OMIM:615573
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Abnormal spermatogenesis, Oocyte arrest at metaphase I ORPHA:488191
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hematuria, Nephritis OMIM:161950
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Long nose, Anomalous pulmonary venous return, Wide nose ORPHA:2184
Nephrotic Syndrome, Type 7
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Hemolytic-uremic syndrome, Thic... OMIM:615008
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Glutaryl-Coa Dehydrogenase Deficiency
Ataxia, Chronic kidney disease, Communicating hydrocephalus, Rigidity, Glutaric aciduria, Chorea,... ORPHA:25
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Arthritis, Purulent rhinitis, B lymphocytopenia, Pneumonia, Conjunctivitis, Otitis media, T lymph... OMIM:601457
Pineocytoma
Episodic ataxia, Increased CSF protein concentration, Difficulty walking, Hydrocephalus ORPHA:251912
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Chronic sinusitis, Cough, Chronic rhinitis, Recurrent otitis me... OMIM:614679
Ciliary Dyskinesia, Primary, 16
Chronic otitis media, Chronic sinusitis, Abnormal ciliary motility, Chronic rhinitis, Bronchiecta... OMIM:614017
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Unilateral renal agenesis, Short stature, Anteverted nares, Depresse... ORPHA:1064
Primary Membranoproliferative Glomerulonephritis
Microscopic hematuria, Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Chronic ... ORPHA:54370
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Microscopic hematuria, Renal tubular atrophy, Nephrocalcinosis, Chronic kidney disease, Renal ins... OMIM:310468
Familial Nasal Acilia
Chronic sinusitis, Dyspnea, Atelectasis, Chronic rhinitis, Respiratory distress, Bronchiectasis, ... ORPHA:922
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Ciliary Dyskinesia, Primary, 40
Chronic sinusitis, Cough, Chronic rhinitis, Reduced forced expiratory volume in one second, Decre... OMIM:618300
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Leishmaniasis
Abnormal macrophage morphology, Leukopenia, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopat... ORPHA:507
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Aplastic anemia, Recurrent aphthous stomatitis, Leukemia, Acu... ORPHA:486
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Communicating hydrocephalus, Hyperparathyroidism, Unilateral renal agenesis, Ant... OMIM:618188
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia in presence of anti-neutropil antibodies, Recurrent respiratory infections, Acute oti... ORPHA:572
Spastic Paraplegia-Nephritis-Deafness Syndrome
Proteinuria, Nephropathy ORPHA:2820
Nephrotic Syndrome, Type 2
Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:600995
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Papilloma Of Choroid Plexus
Hypertonia, Hemiplegia/hemiparesis, Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Biemond Syndrome Type 2
Delayed puberty, Hypogonadism, Hydrocephalus, Short stature, Hypogonadotropic hypogonadism, Obesity ORPHA:141333
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Atypical Teratoid Rhabdoid Tumor
Cerebral palsy, Hemiplegia/hemiparesis, Ataxia, Hydrocephalus ORPHA:99966
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Gait disturbance, Kinetic tremor, Normal pressure hydrocephalus, Tremor, Ventriculomegaly OMIM:611808
Galactosemia I
Galactosuria, Aminoaciduria, Albuminuria, Increased level of galactitol in urine OMIM:230400
Eosinophilopenia
Allergic rhinitis, Decreased eosinophil count OMIM:131430
Spermatogenic Failure 72
Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618153
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Coenzyme Q10 Deficiency, Primary, 6
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrolithiasis, Focal ... OMIM:614650
Ciliary Dyskinesia With Defective Radial Spokes
Abnormal respiratory system physiology, Nasal polyposis, Immotile sperm, Chronic rhinitis, Sinusi... OMIM:242670
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618341
Asherman Syndrome
Oligomenorrhea, Dysmenorrhea, Decreased fertility in females, Metrorrhagia, Infertility, Abnormal... ORPHA:137686
Isolated Permanent Neonatal Diabetes Mellitus
Glycosuria, Moderate albuminuria, Renal tubular dysfunction, Ketonuria, Abnormality of the upper ... ORPHA:99885
Spermatogenic Failure 65
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619712
Osteopetrosis, Autosomal Recessive 2
Hepatosplenomegaly, Extramedullary hematopoiesis, Anemia, Facial paralysis, Hydrocephalus, Thromb... OMIM:259710
Scheie Syndrome
Mucopolysacchariduria, Hepatomegaly, Rhinitis, Cerebral palsy, Splenomegaly, Spastic paraparesis ORPHA:93474
Hurler Syndrome
Recurrent respiratory infections, Mucopolysacchariduria, Abnormal pyramidal sign, Hydrocephalus, ... ORPHA:93473
Hec Syndrome
Respiratory insufficiency, Vaginal hydrocele, Communicating hydrocephalus ORPHA:2119
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus OMIM:166990
Edinburgh Malformation Syndrome
Failure to thrive, Hydrocephalus OMIM:129850
Spermatogenic Failure 33
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:617965
Fibronectin Glomerulopathy
Microscopic hematuria, Proteinuria, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abno... ORPHA:84090
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Methylmalonic Acidemia With Homocystinuria
Skin rash, Failure to thrive, Hydrocephalus ORPHA:26
H Syndrome
Hepatosplenomegaly, Delayed puberty, Decreased testicular size, Micropenis, Enlarged kidney, Hypo... ORPHA:168569
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Abnormal renal tubule morphology, Nephrotic syndrome ORPHA:839
Chudley-Mccullough Syndrome
Ventriculomegaly, Severe sensorineural hearing impairment, Hydrocephalus OMIM:604213
Dermatitis, Atopic
Atopic dermatitis, Conjunctivitis, Recurrent skin infections, Allergic rhinitis, Eczema, Asthma OMIM:603165
Ige Responsiveness, Atopic
Eczema, Asthma, Allergic rhinitis OMIM:147050
Spermatogenic Failure 56
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619515
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella OMIM:617593
Nephrotic Syndrome, Type 6
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic syndro... OMIM:614196
Nephrotic Syndrome, Type 3
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrotic syndrome, Foc... OMIM:610725
Juvenile Temporal Arteritis
Leukocytosis, Conjunctivitis, Allergic rhinitis, Eosinophilia ORPHA:26137
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Periodontitis, Hearing impairment, Hydrocephalus ORPHA:1008
Interstitial Nephritis, Karyomegalic
Renal interstitial fibrosis, Proteinuria, Renal tubular cyst, Stage 5 chronic kidney disease, Tub... OMIM:614817
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Spasticity, Hydrocephalus, Respiratory insufficiency, Hepatomegaly, Intrauter... OMIM:610333
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Proteinuria, Podocyte foot process effacement, Nephrotic syndrome OMIM:617006
Bloom Syndrome
Chronic pulmonary obstruction, Acute lymphoblastic leukemia, Respiratory failure, Male infertilit... ORPHA:125
Carboxypeptidase N Deficiency
Allergic rhinitis OMIM:212070
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:617592
Spermatogenic Failure 49
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619094
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:1538
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Hydrocephalus, Communicating hydrocephalus, Ventriculomegaly, Bulbous nose OMIM:615219
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Short stature, Hydrocephalus OMIM:112240
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly... OMIM:301059
Atypical Hemolytic Uremic Syndrome
Proteinuria, Acute kidney injury, Hematuria ORPHA:2134
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Ataxia, Hydrocephalus OMIM:618709
Beemer Lethal Malformation Syndrome
Thrombocytopenia, Wide nasal bridge, Hydrocephalus OMIM:209970
Autosomal Dominant Polycystic Kidney Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Abnormal uri... ORPHA:730
Pgm3-Cdg
Chronic otitis media, Chronic sinusitis, Hemolytic anemia, Decreased proportion of CD3-positive T... ORPHA:443811
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Hydrocephalus OMIM:123155
Spermatogenic Failure 17
Male infertility OMIM:617214
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Beta 2-microglobulinuria, Reduced renal corticomedullary differentiation, Renal cort... OMIM:611555
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal tubular atrophy, Chronic kidney disease, Focal segmental glomerulosclerosis, T... OMIM:613092
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Membranoproliferative glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:613913
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Alpha-Mannosidosis, Infantile Form
Hepatosplenomegaly, Ataxia, Clumsiness, Oligosacchariduria, Communicating hydrocephalus, Spastic ... ORPHA:309282
Thakker-Donnai Syndrome
Hydronephrosis, Communicating hydrocephalus, Intrauterine growth retardation, Anteverted nares, B... ORPHA:1780
Spermatogenic Failure 54
Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone... OMIM:619379
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Skin rash, Hepatomegaly, Anemia of inadequate production, Allergic rhinitis, Asthma, Sp... OMIM:612714
Partial Chromosome Y Deletion
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... ORPHA:1646
Microsporidiosis
Peritonitis, Myocarditis, Urethritis, Bronchiolitis, Abnormality of the spleen, Decreased proport... ORPHA:2552
Netherton Syndrome
Recurrent respiratory infections, Hypereosinophilia, Chronic rhinitis, Recurrent skin infections,... OMIM:256500
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper... OMIM:619585
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:620222
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... OMIM:618664
Spermatogenic Failure 76
Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli... OMIM:620084
Ciliary Dyskinesia, Primary, 36, X-Linked
Nasal congestion, Neonatal respiratory distress, Recurrent respiratory infections, Chronic otitis... OMIM:300991
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria OMIM:619269
Masa Syndrome
Hydrocephalus, Short stature, Shuffling gait, Ventriculomegaly, Spastic paraplegia, Paraplegia, L... OMIM:303350
Denys-Drash Syndrome
Proteinuria, Nephroblastoma, Nephropathy, Nephrotic syndrome ORPHA:220
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Renal insufficiency, Myoglobinuria OMIM:255110
Silver-Russell Syndrome Due To 11P15 Microduplication
Small for gestational age, Intrauterine growth retardation, Short stature, Severe intrauterine gr... ORPHA:231144
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... OMIM:617960
Spermatogenic Failure 42
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... OMIM:618745
Spermatogenic Failure 39
Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit... OMIM:618643
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic sinusitis, Wheezing, Red... OMIM:613807
Biemond Syndrome Ii
Short stature, Hydrocephalus OMIM:210350
Non Rare In Europe: Central Precocious Puberty
Hydrocephalus, Acne, Increased body weight, Proportionate short stature, Obesity ORPHA:759
Cole-Carpenter Syndrome
Communicating hydrocephalus, Intrauterine growth retardation, Short stature ORPHA:2050
Diencephalic Syndrome
Cachexia, Decreased body weight, Macrotia, Hydrocephalus ORPHA:1672
Immunodeficiency 58
Recurrent respiratory infections, Chronic otitis media, Recurrent cutaneous abscess formation, Ch... OMIM:618131
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia OMIM:619102
Selective Igm Deficiency
Chronic sinusitis, Decreased proportion of CD3-positive T cells, Chronic oral candidiasis, Cutane... ORPHA:331235
Nephrotic Syndrome, Type 22
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... OMIM:619155
Gómez-López-Hernández Syndrome
Impaired pain sensation, Ataxia, Hydrocephalus, Short stature, Anteverted nares ORPHA:1532
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic sinusitis, Recurrent lower respiratory tract infections, Recurrent respiratory infections... ORPHA:183675
Spermatogenic Failure 57
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... OMIM:619528
Chilton-Okur-Chung Neurodevelopmental Syndrome
Broad nasal tip, Epistaxis, Anterior pituitary hypoplasia, Cryptorchidism, Micropenis, Limb hyper... OMIM:619841
Spermatogenic Failure 63
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility OMIM:619689
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired pain sensation, Frequent falls, Distal sensory impairment, Paresthesia, Inability to wal... ORPHA:99947
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptorchidism, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Adenine Phosphoribosyltransferase Deficiency
Recurrent urinary tract infections, Proteinuria, Acute kidney injury, Urinary retention, Uric aci... ORPHA:976
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Short stature, Hypergonadotropic hypogonadism, Azoospermia, Obesity ORPHA:2183
Lujo Hemorrhagic Fever
Myocarditis, Microscopic hematuria, Maculopapular exanthema, Leukocytosis, Atelectasis, Skin rash... ORPHA:319213
Amyloidosis, Familial Visceral
Proteinuria, Nephropathy, Hematuria, Nephrotic syndrome OMIM:105200
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Oligospermia, Abnormal sperm mid... ORPHA:529970
Immunodeficiency 23
Recurrent respiratory infections, Somatic sensory dysfunction, Hemolytic anemia, Ataxia, Neutrope... OMIM:615816
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia OMIM:612997
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia OMIM:620196
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Short stature, Failure to thrive, Female infertility, Sensorineu... OMIM:619518
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Spastic tetraplegia, Inability to walk, Ataxia, Hydrocephalus, Pulmonary hypoplasia, Short statur... OMIM:618174
Congenital Disorder Of Glycosylation, Type Iid
Dandy-Walker malformation, Hydrocephalus OMIM:607091
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:614822
Spermatogenic Failure 41
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia OMIM:618670
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Hepatomegaly, Short stature, Wide nose, Upper airway obstruction, Sl... ORPHA:580
Dandy-Walker Syndrome
Dilated fourth ventricle, Truncal ataxia, Hydrocephalus OMIM:220200
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male infertility OMIM:619145
Paroxysmal Hemicrania
Rhinitis, Focal sensory seizure with olfactory features, Rhinorrhea ORPHA:157835
Alexander Disease
Spasticity, Ataxia, Hydrocephalus, Increased CSF protein concentration, Palatal tremor, Babinski ... OMIM:203450
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Idiopathic Non-Lupus Full-House Nephropathy
Microscopic hematuria, Proteinuria, Glomerulonephritis, Acute kidney injury, Glomerular C3 deposi... ORPHA:567544
Spermatogenic Failure 3
Reduced sperm motility, Male infertility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Reduced sperm motility, Male infertility OMIM:400042
Spermatogenic Failure 55
Reduced sperm motility, Male infertility OMIM:619380
Hypouricemia, Renal, 1
Proteinuria, Acute kidney injury, Uric acid nephrolithiasis, Hyperuricosuria, Renal cortical hype... OMIM:220150
1Q21.1 Microduplication Syndrome
Failure to thrive, Hydrocephalus ORPHA:250994
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Spasticity, Hydronephrosis, Decreased testicular size, Micropenis, Hydrocephalus, Communicating h... OMIM:615287
Holoprosencephaly 5
Hydrocephalus, Lobar holoprosencephaly, Semilobar holoprosencephaly, Alobar holoprosencephaly, La... OMIM:609637
Lipodystrophy, Partial, Acquired, Susceptibility To
Proteinuria, Membranoproliferative glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:608709
Shprintzen-Goldberg Syndrome
Cryptorchidism, Communicating hydrocephalus, Ventriculomegaly, Anteverted nares, Apnea ORPHA:2462
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Nephronophthisis 13
Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Stage 5 chronic kidney disea... OMIM:614377
Epilepsy, Pyridoxine-Dependent
Hydrocephalus OMIM:266100
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... OMIM:611102
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Spermatogenic Failure 48
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility OMIM:619108
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Developmental And Epileptic Encephalopathy 36
Abnormal pyramidal sign, Hydrocephalus, Hepatomegaly, Abnormality of extrapyramidal motor functio... OMIM:300884
Premature Ovarian Failure 13
Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Premature Ovarian Failure 6
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Streak ovary, Secondary ... OMIM:612310
Familial Cold Autoinflammatory Syndrome 3
Recurrent sinopulmonary infections, Hashimoto thyroiditis, Recurrent otitis media, Allergic rhini... OMIM:614468
Fried Syndrome
Hearing impairment, Macrotia, Hydrocephalus ORPHA:85335
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Gait ataxia, Prominent nasal bridge, Ventriculomegaly OMIM:617011
Galloway-Mowat Syndrome 8
Renal tubular atrophy, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hematuria... OMIM:618349
Congenital Toxoplasmosis
Hydrocephalus, Failure to thrive in infancy, Intrauterine growth retardation, Hearing impairment,... ORPHA:858
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Autosomal Recessive Malignant Osteopetrosis
Recurrent respiratory infections, Pulmonary arterial hypertension, Anemia, Hydrocephalus, Chronic... ORPHA:667
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Dandy-Walker malformation OMIM:617967
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Prominent nasal bridge, Difficulty walking, Micropenis, Communicating hydrocephalus, Ventriculome... ORPHA:457359
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligospermia OMIM:619828
Congenital Disorder Of Glycosylation, Type Iiw
Microscopic hematuria, Moderate albuminuria, Membranoproliferative glomerulonephritis OMIM:619525
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Ring Chromosome Y Syndrome
Short stature, Female infertility, Azoospermia, Streak ovary, Male infertility, Abnormal spermato... ORPHA:261529
Pontocerebellar Hypoplasia, Type 15
Spastic tetraplegia, Anemia, Chronic neutropenia, Hydrocephalus, Thrombocytopenia, Hypertonia OMIM:619302
Spermatogenic Failure 5
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility OMIM:243060
Dent Disease 2
Nephrocalcinosis, Chronic kidney disease, Hypercalciuria, Proximal tubulopathy, Aminoaciduria, Lo... OMIM:300555
Spermatogenic Failure 21
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617187
Spermatogenic Failure 44
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:619044
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Abdominal obesity, Short stature, Truncal obesity OMIM:618160
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619696
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Isochromosomy Yp
Azoospermia, Decreased testicular size, Male infertility ORPHA:98797
Dopamine Beta-Hydroxylase Deficiency
Dyspnea, Anemia, Nocturia, Elevated urinary dopamine, Rhinitis, Retrograde ejaculation ORPHA:230
Alg12-Cdg
Recurrent respiratory infections, Cryptorchidism, Prominent nasal bridge, Micropenis, Intrauterin... ORPHA:79324
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Temple Syndrome
Small for gestational age, Hydrocephalus, Short stature, Postnatal growth retardation, Obesity ORPHA:254516
Cryoglobulinemia, Familial Mixed
Proteinuria, Abnormal renal physiology, Hematuria, Chronic kidney disease OMIM:123550
Frasier Syndrome
Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:136680
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Microscopic hematuria, Stage 5 chronic kidney disease, Chronic kidney disease, Macroscopic hematu... ORPHA:567546
Immunodeficiency, Common Variable, 6
Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Macroscopic ... OMIM:613496
Chronic Actinic Dermatitis
Eczema, Late onset atopic dermatitis, Allergic rhinitis, Erythroderma ORPHA:330064
Intellectual Developmental Disorder, Autosomal Recessive 68
Small for gestational age, Protruding ear, Hydrocephalus OMIM:618302
Congenital Hydrocephalus
Colpocephaly, Hydrocephalus, Posteriorly rotated ears, Ventriculomegaly, Sensorineural hearing im... ORPHA:2185
Premature Ovarian Failure 20
Female infertility, Secondary amenorrhea OMIM:619938
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Reduced renal corticomedullary differentiation, Foca... OMIM:603278
Fanconi Renotubular Syndrome 3
Aminoaciduria, Hyperphosphaturia, Low-molecular-weight proteinuria, Glycosuria OMIM:615605
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
C3 Glomerulopathy
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Chronic kidney disease, Nephrot... ORPHA:329918
Degcags Syndrome
Abnormal spleen morphology, Cholestasis, Hepatomegaly, Ventriculomegaly, Vocal cord paralysis, He... OMIM:619488
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
Fanconi Renotubular Syndrome 2
Proteinuria, Decreased glomerular filtration rate, Glycosuria, Renal phosphate wasting, Renal ins... OMIM:613388
Classic Galactosemia
Oligomenorrhea, Delayed puberty, Jaundice, Decreased fertility in females, Gait disturbance, Prem... ORPHA:79239
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Acute kidney injury, Moderate albuminuria, Renal tubular epithelial necrosis, Abnormal penis morp... ORPHA:95455
Glycogen Storage Disease X
Renal insufficiency, Myoglobinuria OMIM:261670
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Hydrocephalus, Broad-based gait, Tremor OMIM:619470
Hereditary Renal Hypouricemia
Acute kidney injury, Abnormal renal physiology, Chronic kidney disease, Decreased glomerular filt... ORPHA:94088
Acquired Partial Lipodystrophy
Microscopic hematuria, Proteinuria, Glomerulopathy ORPHA:79087
Kleeblattschaedel
Hydrocephalus OMIM:148800
Renal Hypoplasia
Recurrent urinary tract infections, Hydronephrosis, Proteinuria, Abnormal renal morphology, Vesic... ORPHA:93101
Nephrotic Syndrome, Type 8
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Chronic kidney disease,... OMIM:615244
Temple Syndrome
Small for gestational age, Overweight, Hydrocephalus, Posteriorly rotated ears, Truncal obesity, ... OMIM:616222
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:2668
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Nasal polyposis, Decreased nasal nitric oxide, Short sperm flag... OMIM:620197
Ichthyosis Prematurity Syndrome
Erythroderma, Asthma, Allergic rhinitis, Neonatal asphyxia OMIM:608649
Griscelli Syndrome
Spasticity, Encephalocele, Jaundice, Leukopenia, Ataxia, Hydrocephalus, Abnormality of neutrophil... ORPHA:381
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Eosinophilic Gastroenteritis
Atopic dermatitis, Leukocytosis, Anemia, Eosinophilia, Allergic rhinitis, Asthma ORPHA:2070
Alport Syndrome 2, Autosomal Recessive
Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Thickened glomerular basement m... OMIM:203780
Fanconi Renotubular Syndrome 1
Glycosuria, Renal insufficiency, Renal tubular dysfunction, Impaired renal tubular reabsorption o... OMIM:134600
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Recurrent respiratory infections, Hypoplastic nipples, Rhinitis, Depressed nasal bridge, Absent n... OMIM:614941
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:614455
Al Amyloidosis
Proteinuria, Abnormality of the kidney, Renal interstitial amyloid deposits, Renal insufficiency,... ORPHA:85443
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Mirage Syndrome
Decreased testicular size, Aspiration pneumonia, Hypoplastic spleen, Leukopenia, Cryptorchidism, ... OMIM:617053
Papillary Tumor Of The Pineal Region
Episodic ataxia, Increased CSF protein concentration, Difficulty walking, Hydrocephalus ORPHA:251915
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Isochromosomy Yq
Azoospermia, Decreased testicular size, Male infertility ORPHA:98798
Galloway-Mowat Syndrome 5
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... OMIM:617731
Williams-Beuren Region Duplication Syndrome
Chronic otitis media, Small for gestational age, Hydrocephalus, Short stature, Ventriculomegaly, ... OMIM:609757
Central Neurocytoma
Paresthesia, Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Pain insensitivity, Ba... ORPHA:73256
Band Heterotopia
Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus OMIM:600348
Whipple Disease
Myocarditis, Abnormal pyramidal sign, Pleuritis, Ataxia, Anemia, Respiratory insufficiency, Cough... ORPHA:3452
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Hypogonadism, Hydrocephalus OMIM:601794
Genetic Steroid-Resistant Nephrotic Syndrome
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Chronic kidney disease,... ORPHA:656
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Tubulointerstitial fibrosis OMIM:618913
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Low-set ears, Short stature, Hydrocephalus ORPHA:1516
Alexander Disease Type I
Cachexia, Failure to thrive, Hydrocephalus ORPHA:363717
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Oculomotor apraxia, Chronic kidney disease, Hydrocephalus, Cholestasis, Hepatic fibrosis, Hepatom... OMIM:615630
Acalvaria
Spina bifida, Holoprosencephaly, Hydrocephalus ORPHA:945
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerulonephriti... OMIM:301006
Maternally-Inherited Diabetes And Deafness
Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:225
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus, Rhizomelia, Allergic rhinitis, Eczema, Asthma, Annular pancreas OMIM:618162
Peroxisome Biogenesis Disorder 1A (Zellweger)
Renal cortical microcysts, Hydronephrosis, Albuminuria, Aminoaciduria, Hypospadias OMIM:214100
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Progressive cerebellar ataxia, Male infertility ORPHA:276183
Microphthalmia, Syndromic 9
Hydronephrosis, Pulmonary artery atresia, Cryptorchidism, Hypoplastic spleen, Severe short statur... OMIM:601186
Palmoplantar Carcinoma, Multiple Self-Healing
Chronic rhinitis OMIM:615225
Krabbe Disease
Increased CSF protein concentration, Hearing impairment, Failure to thrive, Hydrocephalus OMIM:245200
6P22 Microdeletion Syndrome
Overfolded helix, Low-set ears, Hearing impairment, Hydrocephalus ORPHA:251046
Familial Mediterranean Fever, Autosomal Dominant
Renal amyloidosis, Renal insufficiency, Proteinuria OMIM:134610
Systemic Sclerosis
Proteinuria, Abnormality of the kidney, Glomerulonephritis, Acute kidney injury, Chronic kidney d... ORPHA:90291
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Hydrocephalus ORPHA:324416
Frontal Encephalocele
Encephalocele, Spina bifida, Hydrocephalus ORPHA:1931
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Acute kidney injury, Hematuria ORPHA:54057
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Hemolytic-uremic syndrome, Hema... OMIM:612925
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Micropenis, Hydrocephalus, Short nose, Anteverted nares, Short columella, Spastic... ORPHA:171839
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Lcat Deficiency
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Decreased glomerular filtration... ORPHA:650
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria OMIM:620010
Cednik Syndrome
Proteinuria, Nephrotic syndrome ORPHA:66631
Pallister-Hall-Like Syndrome
Micropenis, Hydrocephalus, Short nose, Pulmonary hypoplasia, Occipital encephalocele, Short statu... OMIM:241800
Glycogen Storage Disease Xi
Renal insufficiency, Myoglobinuria OMIM:612933
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Intrauterine growth retardation, Wide nose, Respiratory distress, Wide nasal ... ORPHA:89844
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Hematuria, Anuria OMIM:612924
Anti-Glomerular Basement Membrane Disease
Renal insufficiency, Proteinuria, Glomerulopathy, Hematuria ORPHA:375
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hydrocephalus, Hepatomegaly, Nephrotic syndrome, Anteverted nares, Spleno... OMIM:269920
Obsolete: Arnold-Chiari Malformation Type Ii
Spasticity, Somatic sensory dysfunction, Neurogenic bladder, Ataxia, Difficulty walking, Parapare... ORPHA:1136
Multiple Sulfatase Deficiency
Spasticity, Mucopolysacchariduria, Ataxia, Hydrocephalus, Increased CSF protein concentration, He... OMIM:272200
Preeclampsia
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Acute kidney injury ORPHA:275555
Functioning Gonadotropic Adenoma
Delayed puberty, Hydrocephalus, Pituitary gonadotropic cell adenoma, Decreased female libido, Dec... ORPHA:91348
Familial Peripheral Male-Limited Precocious Puberty
Acne, Male infertility, Long penis, Macroorchidism, Oligospermia ORPHA:3000
Neural Tube Defects, Susceptibility To
Myelomeningocele, Anencephaly, Spina bifida occulta, Hydrocephalus OMIM:182940
Glycogen Storage Disease V
Dark urine, Myoglobinuria OMIM:232600
Intellectual Developmental Disorder, X-Linked 30
Prominent nasal bridge, Hydrocephalus, Clumsiness, Short nose, Short stature, Anteverted nares OMIM:300558
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dandy-Walker malformation, Wide nasal bridge, Depressed nasal bridge, Dilated four... OMIM:220220
Dent Disease
Proteinuria, Renal tubular atrophy, Nephrocalcinosis, Chronic kidney disease, Renal phosphate was... ORPHA:1652
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Depressed nasal bridge, Hypoplastic nipples, Short nose, Underdeveloped nasal alae, Aplasia/Hypop... OMIM:305100
Oxoglutaric Aciduria
Abnormal urine alpha-ketoglutarate concentration, Ataxia, Hydrocephalus, Abnormal salivary gland ... ORPHA:31
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Allergic rhinitis ORPHA:90368
Lissencephaly 5
Occipital encephalocele, Hearing impairment, Hydrocephalus OMIM:615191
Ovarian Dysgenesis 3
Delayed puberty, Female infertility, Primary amenorrhea OMIM:614324
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Hematuria, Anuria OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Hematuria, Anuria OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Hematuria, Anuria OMIM:612926
Igg4-Related Kidney Disease
Hydronephrosis, Proteinuria, Acute kidney injury, Urinary bladder inflammation, Enlarged kidney, ... ORPHA:449395
Nasu-Hakola Disease
Spasticity, Oculomotor apraxia, Hydrocephalus, Chorea, Ventriculomegaly, Acute leukemia ORPHA:2770
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Acute kidney injury, Chronic kidney disease, Enlarged kid... ORPHA:85445
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Recurrent otitis media, Male infertility, Asplenia OMIM:618948
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Proteinuria, Nephrotic syndrome OMIM:215250
Bresek Syndrome
Decreased testicular size, Cryptorchidism, Hydrocephalus, Intrauterine growth retardation, Neonat... ORPHA:85284
Spermatogenic Failure 38
Abnormal sperm head morphology, Oligospermia, Coiled sperm flagella, Absent sperm flagella, Male ... OMIM:618433
Albers-Schönberg Osteopetrosis
Hydrocephalus, Osteoarthritis, Short stature, Hearing impairment, Arthritis, Osteomyelitis, Mandi... ORPHA:53
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus, Intrauterine growth retardation, Hearing impairment, Microtia ORPHA:1914
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Craniotelencephalic Dysplasia
Arrhinencephaly, Low-set, posteriorly rotated ears, Frontal encephalocele, Hydrocephalus ORPHA:1528
Pontocerebellar Hypoplasia, Type 7
Spasticity, Broad nasal tip, Cryptorchidism, Oculomotor apraxia, Micropenis, Ataxia, Hydrocephalu... OMIM:614969
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Hydrocephalus OMIM:616521
Dent Disease 1
Microscopic hematuria, Nephrocalcinosis, Chronic kidney disease, Renal phosphate wasting, Stage 5... OMIM:300009
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:1192
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Low-set, posteriorly rotated ears, Hydrocephalus, Short stature, Hearing impairment, Macrotia ORPHA:2701
Thalidomide Embryopathy
Chronic rhinitis, Short stature ORPHA:3312
Alport Syndrome 3, Autosomal Dominant
Microscopic hematuria, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Nephrocal... OMIM:104200
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Holoprosencephaly, Short stature, Ventriculomegaly, Hearing impairment ORPHA:93274
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Hydrocephalus OMIM:614120
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macrotia, Hydrocephalus OMIM:300886
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Hydrocephalus, Hepatomegaly, Pericarditis, Splenomegaly ORPHA:163596
Idiopathic Steroid-Resistant Nephrotic Syndrome
Proteinuria, Acute kidney injury, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Fo... ORPHA:567548
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Renal insufficiency, Myoglobinuria ORPHA:2364
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Intrauterine growth retardation, Hearing impairment, Ventriculomegaly, Failure to ... ORPHA:2169
Congenital Muscular Dystrophy, Fukuyama Type
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly ORPHA:272
Gracile Bone Dysplasia
Hypoplastic spleen, Micropenis, Asplenia, Hydrocephalus, Short stature OMIM:602361
Nephrotic Syndrome, Type 11
Renal tubular atrophy, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, ... OMIM:616730
Alagille Syndrome 2
Proteinuria, Renal cyst, Renal insufficiency, Hematuria, Renal tubular acidosis, Renal hypoplasia OMIM:610205
Distal 7Q11.23 Microduplication Syndrome
Frontal encephalocele, Hydrocephalus ORPHA:261102
Joubert Syndrome With Hepatic Defect
Gait disturbance, Prominent nasal bridge, Neoplasm of the liver, Ataxia, Oculomotor apraxia, Hydr... ORPHA:1454
Thanatophoric Dysplasia
Low-set ears, Hydrocephalus, Intrauterine growth retardation, Hearing impairment, Ventriculomegal... ORPHA:2655
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Stormorken Syndrome
Hypoplastic spleen, Asplenia, Anemia, Short stature, Thrombocytopenia, Hematuria, Prominent nose,... OMIM:185070
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Large earlobe, Ventriculomegaly OMIM:602501
Azoospermia, Obstructive, With Nephrolithiasis
Nephrolithiasis, Obstructive azoospermia, Male infertility OMIM:301060
Multicentric Carpotarsal Osteolysis Syndrome
Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Bilateral renal atrophy OMIM:166300
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Spasticity, Abnormal pyramidal sign, Hydrocephalus, Babinski sign OMIM:615599
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hydrocephalus, Short nose, Ventriculomegaly, Anteverted nares, Wide nasal bridge OMIM:618577
Nephronophthisis 18
Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Hydrocephalus, Cholestasis, Nephron... OMIM:615862
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria OMIM:268200
Coach Syndrome 2
Oculomotor apraxia, Hydrocephalus, Congenital hepatic fibrosis, Hepatic fibrosis, Portal fibrosis... OMIM:619111
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Short stature, Ventriculomegaly, Abnormal auditory evoked potentials, Sensorineura... OMIM:109120
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Spasticity, Abnormal pyramidal sign, Hydrocephalus, Babinski sign ORPHA:397951
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Hydrocephalus, Posteriorly rotated ears, Intrauterine growth retardation, Short sta... OMIM:619833
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Low-set ears, Hydrocephalus, Posteriorly rotated ears, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Mucopolysaccharidosis, Type Ii
Heparan sulfate excretion in urine, Hepatosplenomegaly, Severe short stature, Hydrocephalus, Hepa... OMIM:309900
Renal Dysplasia
Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Multi... ORPHA:93108
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Spinal dysraphism, Low-set, posteriorly rotated ears, Hydrocephalus, Meningocele, ... ORPHA:1908
Vacterl Association With Hydrocephalus
Hydrocephalus, Respiratory insufficiency, Aqueductal stenosis, Stillbirth, Respiratory failure, R... OMIM:276950
Metatropic Dysplasia
Aplasia/Hypoplasia of the lungs, Severe short stature, Depressed nasal bridge, Hydrocephalus ORPHA:2635
Galloway-Mowat Syndrome 4
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrotic syndrome, Foc... OMIM:617730
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Renal insufficiency, Myoglobinuria,... ORPHA:228302
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Hydrocephalus, Cholestasis, Unilateral renal agenesis, Intra... OMIM:614576
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Atopic dermatitis, Esophagitis, Allergic rhinitis, Eosinophilic microabscess formation in the eso... ORPHA:411696
Spermatogenic Failure, X-Linked, 2
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility OMIM:309120
B4Galt1-Cdg
Low-set ears, Small for gestational age, Inflammatory abnormality of the skin, Hydrocephalus, Dan... ORPHA:79332
Edinburgh Malformation Syndrome
Low-set ears, Failure to thrive, Hydrocephalus ORPHA:1895
Galloway-Mowat Syndrome 10
Stage 5 chronic kidney disease, Proteinuria, Podocyte foot process effacement, Diffuse mesangial ... OMIM:619609
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Myh9-Related Disease
Nephritis, Renal insufficiency, Proteinuria, Nephropathy ORPHA:182050
Tenorio Syndrome
Enuresis, Gait disturbance, Hydrocephalus, Recurrent aphthous stomatitis, Clumsiness, Keratoconju... OMIM:616260
Intellectual Developmental Disorder, Autosomal Dominant 36
Inability to walk, Hydrocephalus, Unilateral renal agenesis, Ventriculomegaly, Anteverted nares, ... OMIM:616362
Renal Hypoplasia, Bilateral
Microscopic hematuria, Proteinuria, Glycosuria, Chronic kidney disease, Beta 2-microglobulinuria,... ORPHA:97362
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Low-set ears, Hydrocephalus, Rhizomelia, Intrauterine growth retardation, Short stature OMIM:300863
Spermatogenic Failure 77
Cryptorchidism, Elevated circulating follicle stimulating hormone level, Azoospermia, Multiflagel... OMIM:620103
Neonatal Lupus Erythematosus
Malar rash, Maculopapular exanthema, Hemolytic anemia, Skin rash, Cholestasis, Aplastic anemia, A... ORPHA:398124
Melanosis, Neurocutaneous
Dandy-Walker malformation, Choroid plexus papilloma, Hydrocephalus OMIM:249400
Emanuel Syndrome
Low-set ears, Hypogonadism, Hydrocephalus, Intrauterine growth retardation, Severe hearing impair... ORPHA:96170
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Hydrocephalus OMIM:304100
Distal 16P11.2 Microdeletion Syndrome
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Vesicoureteral reflux, Renal agen... ORPHA:261222
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Ataxia, Anterior pituitary hypoplasia, Short stature, Abnormal thyroid... OMIM:616113
Frasier Syndrome
Proteinuria, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... ORPHA:347
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Depressed nasal bridge, Abnormal nasal morphology, Hydrocephalus ORPHA:83473
Nephrotic Syndrome, Type 1
Proteinuria, Renal tubular atrophy, Diffuse mesangial sclerosis, Renal insufficiency, Glomerular ... OMIM:256300
Craniofacial Dyssynostosis With Short Stature
Abnormal location of ears, Hydrocephalus, Short stature, Ventriculomegaly OMIM:218350
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Small for gestational age, Disproportionate short-trunk short stature, Hydrocephalus OMIM:613330
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Proteinuria, Nephrocalcinosis, Glycosuria, Aminoaciduria, Hyperphosphaturia OMIM:616026
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Proteinuria, Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Fatigable weakness of... ORPHA:436271
Joubert Syndrome With Renal Defect
Encephalocele, Gait disturbance, Prominent nasal bridge, Ataxia, Oculomotor apraxia, Hydrocephalu... ORPHA:220497
Osteopetrosis, Autosomal Recessive 5
Hepatosplenomegaly, Spastic tetraplegia, Leukocytosis, Extramedullary hematopoiesis, Anemia, Limb... OMIM:259720
Chiari Malformation Type Ii
Cervical myelopathy, Ataxia, Hydrocephalus, Spina bifida, Myelomeningocele, Opisthotonus, Inspira... OMIM:207950
Emanuel Syndrome
Low-set ears, Hydrocephalus, Intrauterine growth retardation, Chronic oral candidiasis, Hearing i... OMIM:609029
Mucopolysaccharidosis Type 1
Recurrent respiratory infections, Chronic otitis media, Mucopolysacchariduria, Paresthesia, Abnor... ORPHA:579
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Proteinuria, Nephrocalcinosis, Glycosuria, Nephropathy, Aminoaciduria, Renal tubular acidosis OMIM:613404
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Proteinuria, Nephropathy, Renal artery stenosis OMIM:209010
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Oligospermia, Male infertility OMIM:108420
Muscle-Eye-Brain Disease
Gait disturbance, Hydrocephalus, Meningocele, Hemiplegia/hemiparesis, Holoprosencephaly, Hypertonia ORPHA:588
Nephrotic Syndrome, Type 14
Proteinuria, Micropenis, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic s... OMIM:617575
Galloway-Mowat Syndrome 6
Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:618347
47,Xyy Syndrome