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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
increased urine microalbumin level Stk36em1(IMPC)J HET Early adult 2.79×10-16
increased prepulse inhibition Stk36em1(IMPC)J HET Early adult 3.60×10-05

Download data as:  TSV  XLS

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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 Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Eye Morphology

Images Ophthalmoscopy

2 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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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
Hydrocephalus, Female infertility, Anomalous pulmonary venous return, Airway obstruction, Chronic... ORPHA:244
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced sperm motility, Reduced forced vital capa... 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, Albuminuria, Proteinuria OMIM:618884
Lipoprotein Glomerulopathy
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria OMIM:611771
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... OMIM:618178
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Communicating hydrocephalus, Chronic rhinitis, Male infertility, Recurrent ... OMIM:244400
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Micro... OMIM:601894
Ciliary Dyskinesia, Primary, 9
Recurrent otitis media, Chronic otitis media, Cough, Recurrent sinusitis, Chronic rhinitis, Male ... OMIM:612444
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... OMIM:618176
Ciliary Dyskinesia, Primary, 26
Infertility, Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance... OMIM:615500
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Ciliary Dyskinesia, Primary, 11
Chronic bronchitis, Reduced sperm motility, Short stature, Recurrent sinusitis, Chronic rhinitis,... OMIM:612649
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... OMIM:256020
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... OMIM:137950
Ciliary Dyskinesia, Primary, 18
Respiratory insufficiency due to defective ciliary clearance, Immotile sperm, Chronic bronchitis,... OMIM:614874
Iga Nephropathy, Susceptibility To, 3
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chr... OMIM:616818
Nephrotic Syndrome, Type 23
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... OMIM:619201
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Ciliary Dyskinesia, Primary, 12
Chronic pulmonary obstruction, Immotile sperm, Reduced sperm motility, Short stature, Chronic oti... OMIM:612650
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... OMIM:603965
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria ORPHA:2613
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Neonatal respiratory distress, Recurrent sinusitis, Chronic rhinitis, Recurrent b... OMIM:617091
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615504
Ciliary Dyskinesia, Primary, 24
Infertility, Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis OMIM:615481
Thoracic Dysplasia-Hydrocephalus Syndrome
Ataxia, Depressed nasal ridge, Short stature, Communicating hydrocephalus, Respiratory failure ORPHA:1861
Primary Ciliary Dyskinesia
Hydrocephalus, Female infertility, Anomalous pulmonary venous return, Airway obstruction, Chronic... ORPHA:244
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:613944
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Ciliary Dyskinesia, Primary, 45
Chronic rhinitis, Male infertility, Bronchiectasis, Immotile cilia, Recurrent respiratory infections OMIM:618801
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Ciliary Dyskinesia, Primary, 23
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615451
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency OMIM:607832
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Renal Failure, Progressive, With Hypertension
Nephritis, Renal insufficiency, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease OMIM:161900
Ciliary Dyskinesia, Primary, 19
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Recurrent sinus... OMIM:614935
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Postnatal growth retardation, Truncal obesity, Short stature OMIM:618160
Ciliary Dyskinesia, Primary, 22
Infertility, Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance... OMIM:615444
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis OMIM:617609
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615505
Ciliary Dyskinesia, Primary, 38
Infertility, Chronic otitis media, Cough, Chronic sinusitis, Neonatal respiratory distress, Bronc... OMIM:618063
Hurler-Scheie Syndrome
Hepatomegaly, Short stature, Splenomegaly, Abnormal pyramidal sign, Abnormality of the tonsils, R... ORPHA:93476
Felty Syndrome
Sinusitis, Rhinitis, Hepatomegaly, Splenomegaly, Chronic otitis media, Abnormal lymphocyte morpho... ORPHA:47612
Ciliary Dyskinesia, Primary, 33
Cough, Recurrent lower respiratory tract infections, Chronic rhinitis, Recurrent bronchitis, Cili... OMIM:616726
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Noncommunicating hydrocephalus, Abdominal situs inv... OMIM:618699
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Ciliary Dyskinesia, Primary, 5
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:608647
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... OMIM:615008
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Asthma, Recurrent upper and lower respiratory tract infections, Sinusitis, Otitis media, Atopic d... ORPHA:70593
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Ciliary Dyskinesia, Primary, 7
Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Ciliary dyskinesia, Recurrent pneumonia, Restric... OMIM:611884
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... OMIM:614131
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Increased proportion of CD8-p... OMIM:301082
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Recurren... OMIM:618695
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we... OMIM:308990
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Ataxia, Aminoaciduria, Splenomegaly, B lymphocytopenia, Communicating hydrocephalus, Schistocytos... OMIM:616084
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Proteus-Like Syndrome
Hydrocephalus, Splenomegaly, Abnormality of the parathyroid gland, Communicating hydrocephalus, T... ORPHA:2969
Hereditary Cryohydrocytosis With Reduced Stomatin
Hypertonia, Ataxia, Short stature, Hepatosplenomegaly, Hypoglycorrhachia, Spontaneous hemolytic c... ORPHA:168577
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Otitis media, Purulent rhinitis, B lymphocytopenia, T lymphocytopenia, Arthritis, Pneumonia, Conj... OMIM:601457
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Ciliary Dyskinesia, Primary, 37
Infertility, Wheezing, Chronic rhinitis, Rhinorrhea, Bronchiectasis, Goiter OMIM:617577
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:615573
Icf Syndrome
Lymphopenia, Short stature, Depressed nasal bridge, Communicating hydrocephalus, Abnormality of n... ORPHA:2268
Yellow Nail Syndrome
Sinusitis, Hypoplasia of lymphatic vessels, Nephropathy, Neoplasm of the lung, Cough, Pleuritis, ... ORPHA:662
Beemer-Ertbruggen Syndrome
Bulbous nose, Respiratory insufficiency, Communicating hydrocephalus, Cryptorchidism, Thrombocyto... ORPHA:1237
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Iga Nephropathy, Susceptibility To, 1
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:161950
Hydrocephaly-Low Insertion Umbilicus Syndrome
Long nose, Wide nose, Anomalous pulmonary venous return, Communicating hydrocephalus ORPHA:2184
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Glutaryl-Coa Dehydrogenase Deficiency
Chronic kidney disease, Subependymal nodules, Ataxia, Rigidity, Communicating hydrocephalus, Chor... ORPHA:25
Ciliary Dyskinesia, Primary, 16
Chronic otitis media, Chronic rhinitis, Chronic sinusitis, Ciliary dyskinesia, Bronchiectasis, Ab... OMIM:614017
Pineocytoma
Hydrocephalus, Difficulty walking, Increased CSF protein, Episodic ataxia ORPHA:251912
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Short stature, Unilateral renal agenesis, Depressed nasal bridge, Communicating hydrocephalus, An... ORPHA:1064
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... OMIM:310468
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Pr... ORPHA:54370
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Immunodeficiency By Defective Expression Of Mhc Class Ii
Acute otitis media, Sinusitis, Neutropenia in presence of anti-neutropil antibodies, Chronic hepa... ORPHA:572
Ciliary Dyskinesia, Primary, 40
Reduced forced expiratory volume in one second, Infertility, Decreased nasal nitric oxide, Cough,... OMIM:618300
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Leishmaniasis
Rhinitis, Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopeni... ORPHA:507
Ciliary Dyskinesia, Primary, 35
Cough, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Nasal polyposis, Recurrent respirator... OMIM:617092
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
Juvenile Temporal Arteritis
Allergic rhinitis, Eosinophilia, Conjunctivitis, Leukocytosis ORPHA:26137
Biemond Syndrome Type 2
Hydrocephalus, Short stature, Hypogonadotropic hypogonadism, Delayed puberty, Hypogonadism, Obesity ORPHA:141333
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Lymphopenia, Rhinitis, Recurrent sinopulmonary infections, Recurrent skin infectio... ORPHA:486
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Atypical Teratoid Rhabdoid Tumor
Cerebral palsy, Hydrocephalus, Hemiplegia/hemiparesis, Ataxia ORPHA:99966
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Gait disturbance, Tremor, Kinetic tremor, Ventriculomegaly OMIM:611808
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory insufficiency, Respiratory failure, Communicating hydrocephalus OMIM:273730
Galactosemia I
Increased level of galactitol in urine, Albuminuria, Galactosuria, Aminoaciduria OMIM:230400
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Chronic sin... ORPHA:922
Eosinophilopenia
Allergic rhinitis, Decreased eosinophil count OMIM:131430
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Immotile sperm, Chronic rhinitis, Ciliary dyskinesia, Immotile cilia, Abnormal respira... OMIM:242670
Ciliary Dyskinesia With Excessively Long Cilia
Sinusitis, Airway obstruction, Chronic rhinitis, Recurrent bronchitis, Ciliary dyskinesia, Immoti... OMIM:242680
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Isolated Permanent Neonatal Diabetes Mellitus
Renal tubular dysfunction, Ketonuria, Abnormality of the upper urinary tract, Glycosuria, Moderat... ORPHA:99885
Asherman Syndrome
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... ORPHA:137686
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Bulbous nose, Colpocephaly, Ventriculomegaly, Communicating hydrocephalus OMIM:615219
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Cole-Carpenter Syndrome 1
Hydrocephalus, Communicating hydrocephalus, Short stature OMIM:112240
Scheie Syndrome
Hepatomegaly, Spastic paraparesis, Splenomegaly, Cerebral palsy, Mucopolysacchariduria, Rhinitis ORPHA:93474
Ciliary Dyskinesia, Primary, 17
Cough, Chronic rhinitis, Chronic sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent respira... OMIM:614679
Hurler Syndrome
Hydrocephalus, Hepatomegaly, Spastic paraparesis, Splenomegaly, Short stature, Depressed nasal br... ORPHA:93473
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis OMIM:614650
H Syndrome
Amenorrhea, Histiocytosis, Hydrocephalus, Micropenis, Short stature, Hepatosplenomegaly, Enlarged... ORPHA:168569
Hec Syndrome
Respiratory insufficiency, Vaginal hydrocele, Communicating hydrocephalus ORPHA:2119
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Hydrocephalus, Ventriculomegaly, Ataxia OMIM:618709
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Rhizomelia OMIM:166990
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Fibronectin Glomerulopathy
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, G... ORPHA:84090
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Dermatitis, Atopic
Asthma, Recurrent skin infections, Eczema, Atopic dermatitis, Allergic rhinitis, Conjunctivitis OMIM:603165
Edinburgh Malformation Syndrome
Failure to thrive, Hydrocephalus OMIM:129850
Methylmalonic Acidemia With Homocystinuria
Failure to thrive, Hydrocephalus, Skin rash ORPHA:26
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Ige Responsiveness, Atopic
Asthma, Eczema, Allergic rhinitis OMIM:147050
Chudley-Mccullough Syndrome
Severe sensorineural hearing impairment, Hydrocephalus, Ventriculomegaly OMIM:604213
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:610725
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Convex nasal ridge, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Respiratory in... OMIM:610333
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephritis, Proteinuria, Stage 5 chron... OMIM:614817
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617006
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hearing impairment, Hydrocephalus, Periodontitis ORPHA:1008
Fanconi Anemia, Complementation Group R
Growth delay, Hydrocephalus OMIM:617244
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis OMIM:614196
Bloom Syndrome
Cheilitis, Abnormal proportion of CD8-positive T cells, Otitis media, Uveitis, Pneumonia, Rhiniti... ORPHA:125
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Nephrotic syndrome, Proteinuria ORPHA:839
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Beemer Lethal Malformation Syndrome
Hydrocephalus, Thrombocytopenia, Wide nasal bridge OMIM:209970
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Proteinuria ORPHA:2134
Thakker-Donnai Syndrome
Bulbous nose, Communicating hydrocephalus, Hydronephrosis, Anteverted nares, Intrauterine growth ... ORPHA:1780
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Pgm3-Cdg
Ataxia, Abnormal proportion of CD8-positive T cells, Eczema, Chronic sinusitis, Bone marrow hypoc... ORPHA:443811
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:613913
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Alpha-Mannosidosis, Infantile Form
Ataxia, Clumsiness, Oligosacchariduria, Otitis media, Depressed nasal bridge, Hepatosplenomegaly,... ORPHA:309282
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... OMIM:611555
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Asthma, Exocrine pancreatic insufficiency, Hepatomegaly, Skin ra... OMIM:612714
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Microsporidiosis
Keratitis, Pancreatitis, Urethritis, Lymphadenitis, Myocarditis, Biliary tract abnormality, Pneum... ORPHA:2552
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Nephroblastoma, Proteinuria ORPHA:220
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Chronic bronchitis, Reduced sperm motility, Otitis media, Neonatal respiratory di... OMIM:613807
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria OMIM:619269
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Mandibular osteomyelitis, Osteomyelitis, Extramedull... OMIM:259710
Masa Syndrome
Hydrocephalus, Short stature, Spastic paraplegia, Paraplegia, Shuffling gait, Ventriculomegaly, L... OMIM:303350
Selective Igm Deficiency
Keratitis, Otitis media, Rheumatoid arthritis, Lymphadenitis, Chronic sinusitis, Recurrent cutane... ORPHA:331235
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Diencephalic Syndrome
Cachexia, Hydrocephalus, Decreased body weight, Macrotia ORPHA:1672
Silver-Russell Syndrome Due To 11P15 Microduplication
Severe intrauterine growth retardation, Failure to thrive, Short stature, Small for gestational a... ORPHA:231144
Biemond Syndrome Ii
Hydrocephalus, Short stature OMIM:210350
Cole-Carpenter Syndrome
Intrauterine growth retardation, Communicating hydrocephalus, Short stature ORPHA:2050
Immunodeficiency 58
Dysuria, Asthma, Colitis, Chronic pulmonary obstruction, Chronic bronchitis, Short stature, Recur... OMIM:618131
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Recurrent to... ORPHA:183675
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Central Precocious Puberty
Hydrocephalus, Proportionate short stature, Acne, Increased body weight, Obesity ORPHA:759
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Renal ins... ORPHA:567544
Gómez-López-Hernández Syndrome
Hydrocephalus, Ataxia, Short stature, Anteverted nares, Impaired pain sensation ORPHA:1532
Glycogen Storage Disease Vi
Postnatal growth retardation, Failure to thrive in infancy OMIM:232700
Mucopolysaccharidosis Type 2
Motor stereotypy, Sleep apnea, Hepatomegaly, Enlarged tonsils, Splenomegaly, Short stature, Recur... ORPHA:580
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility OMIM:619689
Chilton-Okur-Chung Neurodevelopmental Syndrome
Broad nasal tip, Depressed nasal bridge, Limb hypertonia, Intrauterine growth retardation, Chorde... OMIM:619841
Band Heterotopia
Hydrocephalus, Ventriculomegaly OMIM:600348
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... ORPHA:976
Nephrotic Syndrome, Type 22
Nephrotic syndrome, Nephrotic range proteinuria, Thickened glomerular basement membrane, Podocyte... OMIM:619155
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury OMIM:160010
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:608709
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:603278
Temple Syndrome
Intrauterine growth retardation, Hydrocephalus, Small for gestational age, Short stature, Truncal... OMIM:616222
Amyloidosis, Familial Visceral
Nephrotic syndrome, Nephropathy, Hematuria, Proteinuria OMIM:105200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Inability to walk by childhood/adolescence, Hydrocephalus, Poor fine motor coordination, Hand tre... ORPHA:99947
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Short stature, Hypergonadotropic hypogonadism, Azoospermia, Obesity ORPHA:2183
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Paroxysmal Hemicrania
Focal sensory seizure with olfactory features, Rhinitis, Rhinorrhea ORPHA:157835
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... OMIM:254900
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Immunodeficiency 23
Asthma, Ataxia, Cortical myoclonus, Lymphopenia, Eosinophilia, Membranoproliferative glomerulonep... OMIM:615816
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Protein... OMIM:618349
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle, Truncal ataxia OMIM:220200
Nephrotic Syndrome, Type 8
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Thin glomer... OMIM:615244
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
Pettigrew Syndrome
Hydrocephalus, Choreoathetosis, Prominent nose, Spasticity, Ventriculomegaly, Gait ataxia, Dandy-... OMIM:304340
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Sensorineural hearing impairment, Failure to thrive, Female infertility, Short stature, Premature... OMIM:619518
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
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
Achondroplasia
Conductive hearing impairment, Hydrocephalus, Neonatal short-limb short stature, Rhizomelia, Recu... OMIM:100800
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Alexander Disease
Hydrocephalus, Ataxia, Dysmetria, Babinski sign, Increased CSF protein, Spasticity OMIM:203450
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Low-set ears, Hydrocephalus, Posteriorly rotated ears OMIM:300864
Shprintzen-Goldberg Syndrome
Apnea, Communicating hydrocephalus, Ventriculomegaly, Anteverted nares, Cryptorchidism ORPHA:2462
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... OMIM:614377
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Lujo Hemorrhagic Fever
Respiratory distress, Lymphopenia, Rhinitis, Leukocytosis, Skin rash, Nonproductive cough, Maculo... ORPHA:319213
1Q21.1 Microduplication Syndrome
Failure to thrive, Hydrocephalus ORPHA:250994
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Myoclonus, Prominent nose, Spasticity, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Holoprosencephaly 5
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Macrotia, Semilobar ... OMIM:609637
Fried Syndrome
Hearing impairment, Hydrocephalus, Macrotia ORPHA:85335
Familial Cold Autoinflammatory Syndrome 3
Asthma, Allergic rhinitis, Hashimoto thyroiditis, Recurrent otitis media, Recurrent sinopulmonary... OMIM:614468
Premature Ovarian Failure 13
Amenorrhea, Oligomenorrhea, Female infertility OMIM:617442
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Hepatomegaly, Abnormal pyramidal sign, Anteverted nares, Abnormality of extrapyram... OMIM:300884
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Premature Ovarian Failure 6
Female infertility, Streak ovary, Primary amenorrhea, Secondary amenorrhea, Premature ovarian ins... OMIM:612310
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Autosomal Recessive Malignant Osteopetrosis
Apnea, Hydrocephalus, Hepatomegaly, Pulmonary artery stenosis, Splenomegaly, Otitis media, Chroni... ORPHA:667
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Micropenis, Communicating hydrocephalus, Difficulty walking, Gait ataxia, Ventriculomegaly, Promi... ORPHA:457359
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Congenital Disorder Of Glycosylation, Type Iiw
Membranoproliferative glomerulonephritis, Microscopic hematuria, Moderate albuminuria OMIM:619525
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly, Hearing impairment, Intrauterine growth retardation, Failure to ... ORPHA:858
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Isochromosomy Yp
Azoospermia, Male infertility, Decreased testicular size ORPHA:98797
Ring Chromosome Y Syndrome
Female infertility, Streak ovary, Short stature, Male infertility, Abnormal spermatogenesis, Male... ORPHA:261529
Epilepsy, Pyridoxine-Dependent
Hydrocephalus OMIM:266100
Dent Disease 2
Chronic kidney disease, Aminoaciduria, Low-molecular-weight proteinuria, Hypercalciuria, Proximal... OMIM:300555
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Proteinuria, Renal insufficiency, Lacticaci... OMIM:134600
Chronic Actinic Dermatitis
Erythroderma, Allergic rhinitis, Eczema, Late onset atopic dermatitis ORPHA:330064
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Motor stereotypy, Broad-based gait, Hydrocephalus, Tremor, Spastic tetraparesis OMIM:619470
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Enlarged... OMIM:613496
Degcags Syndrome
Hepatomegaly, Abnormal renal medulla morphology, Cholestasis, Short nose, Pneumonia, Pancytopenia... OMIM:619488
Alg12-Cdg
Intrauterine growth retardation, Micropenis, Hypospadias, B lymphocytopenia, Chronic rhinitis, Wi... ORPHA:79324
Temple Syndrome
Hydrocephalus, Postnatal growth retardation, Short stature, Small for gestational age, Obesity ORPHA:254516
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine, Nocturia, Retrograde ejaculation, Dyspnea, Anemia, Rhinitis ORPHA:230
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Protruding ear, Small for gestational age OMIM:618302
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... ORPHA:329918
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Glycosuria, Aminoaciduria, Low-molecular-weight proteinuria OMIM:615605
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Classic Galactosemia
Gait imbalance, Ataxia, Action tremor, Hepatomegaly, Clumsiness, Postural tremor, Oligomenorrhea,... ORPHA:79239
Congenital Hydrocephalus
Sensorineural hearing impairment, Hydrocephalus, Colpocephaly, Ventriculomegaly, Posteriorly rota... ORPHA:2185
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Kleeblattschaedel
Hydrocephalus OMIM:148800
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Hematuria, Proteinuria, Abnormal renal physiology OMIM:123550
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Hereditary Renal Hypouricemia
Chronic kidney disease, Decreased glomerular filtration rate, Abnormal renal physiology, Abnormal... ORPHA:94088
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Renal Hypoplasia
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... ORPHA:93101
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Dysuria, Abnormal penis morphology, Hematuria, Moderate albuminuria, Acute kidney injury, Renal t... ORPHA:95455
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Macroscopic hematuria, Focal segmental glomerulosclerosis, Microscopic he... ORPHA:567546
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Ichthyosis Prematurity Syndrome
Erythroderma, Asthma, Neonatal asphyxia, Allergic rhinitis OMIM:608649
Pontocerebellar Hypoplasia, Type 15
Hypertonia, Hydrocephalus, Chronic neutropenia, Spastic tetraplegia, Anemia, Thrombocytopenia OMIM:619302
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2668
Griscelli Syndrome
Hydrocephalus, Ataxia, Hepatomegaly, Splenomegaly, Short stature, Leukopenia, Thrombocytopenia, A... ORPHA:381
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Eosinophilic Gastroenteritis
Asthma, Leukocytosis, Atopic dermatitis, Eosinophilia, Allergic rhinitis, Anemia ORPHA:2070
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas, Asthma, Hydrocephalus, Eczema, Allergic rhinitis, Rhizomelia OMIM:618162
Immunodeficiency 54
Intrauterine growth retardation, Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, ... OMIM:609981
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Proteinuria, Re... OMIM:203780
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent nipple, Depressed nasal bridge, Hypoplastic nipples, Rhinitis, Recurrent respiratory infec... OMIM:614941
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613154
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Isochromosomy Yq
Azoospermia, Male infertility, Decreased testicular size ORPHA:98798
Al Amyloidosis
Nephrotic syndrome, Renal interstitial amyloid deposits, Abnormality of the kidney, Proteinuria, ... ORPHA:85443
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Mirage Syndrome
Hydrocephalus, Lymphopenia, Cryptorchidism, Short stature, Hypergonadotropic hypogonadism, Hyposp... OMIM:617053
Papillary Tumor Of The Pineal Region
Hydrocephalus, Difficulty walking, Increased CSF protein, Episodic ataxia ORPHA:251915
Central Neurocytoma
Hydrocephalus, Pain insensitivity, Ataxia, Babinski sign, Paresthesia, Abnormal lateral ventricle... ORPHA:73256
Fechtner syndrome
Proteinuria, Nephritis, Hematuria, Stage 5 chronic kidney disease OMIM:153640
Netherton Syndrome
Erythroderma, Asthma, Hypereosinophilia, Allergic rhinitis OMIM:256500
Whipple Disease
Hydrocephalus, Ataxia, Hepatomegaly, Splenomegaly, Respiratory insufficiency, Abnormal pyramidal ... ORPHA:3452
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Proteinuria, Stage 5 chronic kidney disease OMIM:618913
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Low-set ears, Hydrocephalus, Short stature ORPHA:1516
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Hydrocephalus, Hypogonadism OMIM:601794
Genetic Steroid-Resistant Nephrotic Syndrome
Chronic kidney disease, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinu... ORPHA:656
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Hypotrichosis Simplex Of The Scalp
Allergic rhinitis, Atopic dermatitis ORPHA:90368
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility, Progressive cerebellar ataxia ORPHA:276183
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Decreased response to growth hormone stimulation test, Short stature, Unilateral r... OMIM:609757
Acalvaria
Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Igg4-Related Kidney Disease
Chronic kidney disease, Abnormal ureter morphology, Nephrotic range proteinuria, Urethritis, Uret... ORPHA:449395
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:225
Krabbe Disease
Hearing impairment, Hydrocephalus, Failure to thrive, Increased CSF protein OMIM:245200
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hydrocephalus, Hepatomegaly, Nephronophthisis, Splenomegaly, Short statur... OMIM:615630
6P22 Microdeletion Syndrome
Overfolded helix, Low-set ears, Hydrocephalus, Hearing impairment ORPHA:251046
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Proteinuria, Anuria, Stage 5 chronic kidney disease, Hemolytic-ur... OMIM:612925
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Frontal Encephalocele
Hydrocephalus, Spina bifida, Encephalocele ORPHA:1931
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Clumsiness, Short stature, Short nose, Anteverted nares, Prominent nasal bridge OMIM:300558
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Acute kidney injury, Hematuria, Proteinuria ORPHA:54057
Pallister-Hall-Like Syndrome
Hydrocephalus, Micropenis, Depressed nasal bridge, Anterior hypopituitarism, Short nose, Pulmonar... OMIM:241800
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Hypospadias, Hydronephrosis, Renal cortical microcysts, Albuminuria OMIM:214100
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Renal amyloidosis OMIM:134610
Systemic Sclerosis
Chronic kidney disease, Abnormality of the kidney, Renal insufficiency, Proteinuria, Acute kidney... ORPHA:90291
Galloway-Mowat Syndrome 5
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis OMIM:617731
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypertonia, Hydrocephalus, Micropenis, Hypospadias, Depressed nasal bridge, Short nose, Renal hyp... ORPHA:171839
Cednik Syndrome
Nephrotic syndrome, Proteinuria ORPHA:66631
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Lcat Deficiency
Decreased glomerular filtration rate, Renal insufficiency, Proteinuria, Acute kidney injury, Stag... ORPHA:650
Familial Male-Limited Precocious Puberty
Oligospermia, Long penis, Male infertility, Acne, Macroorchidism ORPHA:3000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Proteinuria, Anuria, Hemolytic-uremic syndrome OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Proteinuria, Anuria, Hemolytic-uremic syndrome OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Proteinuria, Anuria, Hemolytic-uremic syndrome OMIM:612926
Multiple Sulfatase Deficiency
Hydrocephalus, Ataxia, Hepatomegaly, Splenomegaly, Short stature, Mucopolysacchariduria, Ventricu... OMIM:272200
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria OMIM:620010
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Minimal ch... OMIM:301006
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Wide nose, Hypoplastic spleen, Intrauterine growth retardation, Wide nasal ... ORPHA:89844
Anti-Glomerular Basement Membrane Disease
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy ORPHA:375
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Depressed nasal bridge, Dilated fourth ventricle, Wide nasal bridge, Truncal ataxi... OMIM:220220
Oxoglutaric Aciduria
Abnormal urine alpha-ketoglutarate concentration, Hydrocephalus, Hypertonia, Ataxia, Short statur... ORPHA:31
Dent Disease
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... ORPHA:1652
Infantile Sialic Acid Storage Disease
Hydrocephalus, Nephrotic syndrome, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Anteverted... OMIM:269920
Functioning Gonadotropic Adenoma
Amenorrhea, Infertility, Hydrocephalus, Impotence, Abnormal prolactin level, Adrenocorticotropic ... ORPHA:91348
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia, Recurrent otitis media OMIM:618948
Bresek Syndrome
Intrauterine growth retardation, Hydrocephalus, Convex nasal ridge, Neonatal death, Renal hypopla... ORPHA:85284
Preeclampsia
Abnormality of the kidney, Chronic kidney disease, Acute kidney injury, Proteinuria ORPHA:275555
Lissencephaly 5
Hearing impairment, Hydrocephalus, Occipital encephalocele OMIM:615191
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Nephrotic syndrome, Proteinuria OMIM:215250
Ovarian Dysgenesis 3
Female infertility, Primary amenorrhea, Delayed puberty OMIM:614324
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Proteinuria, Anuria, Hemolytic-uremic syndrome OMIM:612922
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent nipple, Respiratory distress, Depressed nasal bridge, Eczema, Hypoplastic nipples, Aplasia... OMIM:305100
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Male infertility, Abnormal sperm hea... OMIM:618433
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Ventriculomegaly, Hydranencephaly, Intrauterine growth retardation, Dandy-Walker m... OMIM:225790
Glycogen Storage Disease V
Dark urine, Myoglobinuria OMIM:232600
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Apnea, Hydrocephalus, Paraparesis, Ataxia, Aqueductal stenosis, Opisthotonus, I... ORPHA:1136
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Abnormality of the kidney, Nephropathy, Enlarged kidn... ORPHA:85445
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Hydrocephalus OMIM:616521
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele ORPHA:352682
Craniotelencephalic Dysplasia
Hydrocephalus, Low-set, posteriorly rotated ears, Frontal encephalocele, Arrhinencephaly ORPHA:1528
Joubert Syndrome 14
Hydrocephalus, Ataxia, Renal cyst, Growth delay, Encephalocele, Prominent nasal bridge, Dandy-Wal... OMIM:614424
Albers-Schönberg Osteopetrosis
Hydrocephalus, Osteomyelitis, Mandibular osteomyelitis, Short stature, Osteoarthritis, Arthritis,... ORPHA:53
Nasu-Hakola Disease
Hydrocephalus, Chorea, Spasticity, Ventriculomegaly, Oculomotor apraxia, Acute leukemia ORPHA:2770
Dent Disease 1
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Aminoaciduria, Glycosuria, Low-... OMIM:300009
Nephronophthisis 18
Hydrocephalus, Nephronophthisis, Cholestasis, Tubulointerstitial nephritis, Portal fibrosis, Stag... OMIM:615862
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus, Short stature, Low-set, posteriorly rotated ears, Macrotia, Hearing impairment ORPHA:2701
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Macrotia OMIM:300886
Mental Retardation, Buenos Aires Type
Low-set ears, Hydrocephalus, Failure to thrive, Protruding ear OMIM:249630
Thanatophoric Dysplasia Type 2
Hydrocephalus, Holoprosencephaly, Encephalocele, Short stature, Ventriculomegaly, Hearing impairment ORPHA:93274
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Micropenis, Anencephaly, Renal cyst, Ventriculomegaly, Hydronephrosis, Decreased t... OMIM:615287
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Thalidomide Embryopathy
Chronic rhinitis, Short stature ORPHA:3312
Mend Syndrome
Hypertonia, Hydrocephalus, Short stature, Cryptorchidism, Prominent nasal bridge, Dandy-Walker ma... OMIM:300960
Pontocerebellar Hypoplasia, Type 7
Apnea, Hydrocephalus, Ataxia, Hypertonia, Opisthotonus, Micropenis, Broad nasal tip, Myoclonus, T... OMIM:614969
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:1192
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal glomerular visceral epithelial cell ... ORPHA:567548
Nephrotic Syndrome, Type 11
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... OMIM:616730
Thanatophoric Dysplasia
Hydrocephalus, Disproportionate short-limb short stature, Hearing impairment, Ventriculomegaly, L... ORPHA:2655
Hydrocephalus With Associated Malformations
Hydrocephalus, Intrauterine growth retardation OMIM:236640
Alagille Syndrome 2
Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Renal insufficiency, Proteinuria OMIM:610205
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia ORPHA:163596
Gracile Bone Dysplasia
Hydrocephalus, Short stature, Micropenis, Hypoplastic spleen, Asplenia OMIM:602361
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Multilobulated spleen, Short stature, Respiratory insufficiency, B... OMIM:601186
Azoospermia, Obstructive, With Nephrolithiasis
Nephrolithiasis, Male infertility, Obstructive azoospermia OMIM:301060
Galloway-Mowat Syndrome 4
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Glo... OMIM:617730
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Alport Syndrome 3, Autosomal Dominant
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... OMIM:104200
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Hydrocephalus, Short stature, Ventriculomegaly, Abnormal audito... OMIM:109120
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Large earlobe, Hydrocephalus, Ventriculomegaly OMIM:602501
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Intrauterine growth retardation, Ventriculomegaly ORPHA:272
Methylcobalamin Deficiency Type Cble
Failure to thrive, Hydrocephalus, Ventriculomegaly, Postnatal growth retardation, Hearing impairm... ORPHA:2169
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Bilateral renal atrophy, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus, Microtia, Hearing impairment, Intrauterine growth retardation ORPHA:1914
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus, Severe short stature, Otitis media, Rhizomelia, Hearing impairment, Disproportiona... OMIM:616482
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Abnormal pyramidal sign, Hydrocephalus, Babinski sign, Spasticity OMIM:615599
Mucopolysaccharidosis, Type Ii
Asthma, Hydrocephalus, Airway obstruction, Sleep apnea, Hepatomegaly, Severe short stature, Splen... OMIM:309900
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Joubert Syndrome With Hepatic Defect
Apnea, Hydrocephalus, Neoplasm of the liver, Hepatomegaly, Ataxia, Splenomegaly, Intrahepatic bil... ORPHA:1454
Metatropic Dysplasia
Depressed nasal bridge, Hydrocephalus, Severe short stature, Aplasia/Hypoplasia of the lungs ORPHA:2635
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Low-set ears, Posteriorly rotated ears, Dandy-Walker malformation ORPHA:163961
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury OMIM:268200
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Hydrocephalus, Bulbous nose, Depressed nasal bridge, Anteverted nares, Wide nasal bridge OMIM:600991
Coach Syndrome 2
Hydrocephalus, Oculomotor apraxia, Apneic episodes in infancy, Congenital hepatic fibrosis, Hepat... OMIM:619111
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Short nose, Ventriculomegaly, Anteverted nares, Cryptorchidism, Wide nasal bridge OMIM:618577
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Hepatomegaly, Splenomegaly, Unilateral renal agenesis, Cirrhosis, Inflammation of ... OMIM:614576
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Red-brown urine, Tubulointerstitial nephritis, Renal insufficiency, Renal tubular ... ORPHA:228302
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Failure to thrive, Hydrocephalus, Intrauterine growth retardation, Short stature, Colpocephaly, V... OMIM:619833
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus, Short stature, Rhizomelia, Low-set ears, Intrauterine growth retardation OMIM:300863
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormal pyramidal sign, Hydrocephalus, Babinski sign, Spasticity ORPHA:397951
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Respiratory insufficiency, Renal hypoplasia, Respiratory fail... OMIM:276950
Edinburgh Malformation Syndrome
Low-set ears, Hydrocephalus, Failure to thrive ORPHA:1895
Galloway-Mowat Syndrome 10
Podocyte foot process effacement, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidne... OMIM:619609
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Low-set ears, Hydrocephalus, Microtia, Abnormal pinna morphology OMIM:613603
Myh9-Related Disease
Renal insufficiency, Nephropathy, Nephritis, Proteinuria ORPHA:182050
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Holoprosencephaly, Short stature, Anencephaly, Low-set, posteriorly rotated ears, ... ORPHA:1908
Emanuel Syndrome
Infertility, Hydrocephalus, Recurrent otitis media, Severe hearing impairment, Failure to thrive,... ORPHA:96170
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Asthma, Eosinophilic microabscess formation in the esophagus, Eosinophilic infiltration of the es... ORPHA:411696
Frasier Syndrome
Nephrotic syndrome, Nephroblastoma, Focal segmental glomerulosclerosis, Renal insufficiency, Prot... ORPHA:347
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Renal insuffic... OMIM:256300
Intellectual Developmental Disorder, Autosomal Dominant 36
Hydrocephalus, Inability to walk, Unilateral renal agenesis, Gait ataxia, Ventriculomegaly, Antev... OMIM:616362
Craniofacial Dyssynostosis With Short Stature
Abnormal location of ears, Hydrocephalus, Ventriculomegaly, Short stature OMIM:218350
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Abnormality of the kidney, Proteinuria, Vesicoureteral re... ORPHA:261222
Melanosis, Neurocutaneous
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation OMIM:249400
Tenorio Syndrome
Apnea, Hydrocephalus, Clumsiness, Cerebral palsy, Gait disturbance, Stomatitis, Wide nose, Ventri... OMIM:616260
Neonatal Lupus Erythematosus
Hydrocephalus, Neutropenia, Hepatomegaly, Skin rash, Splenomegaly, Maculopapular exanthema, Aplas... ORPHA:398124
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Glycosuria, Proteinuria, Hyperphosphaturia, Nephrocalcinosis OMIM:616026
Mucopolysaccharidosis Type 1
Apnea, Hydrocephalus, Sinusitis, Hemiplegia/hemiparesis, Splenomegaly, Short stature, Depressed n... ORPHA:579
Joubert Syndrome With Renal Defect
Apnea, Hydrocephalus, Ataxia, Oculomotor apraxia, Nephropathy, Gait disturbance, Tremor, Renal in... ORPHA:220497
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Proteinuria, Fatiga... ORPHA:436271
Osteopetrosis, Autosomal Recessive 5
Hypertonia, Hydrocephalus, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis... OMIM:259720
B4Galt1-Cdg
Hydrocephalus, Inflammatory abnormality of the skin, Small for gestational age, Low-set ears, Dan... ORPHA:79332
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus OMIM:304100
Chromosome 17P13.1 Deletion Syndrome
Anteverted nares, Ankle clonus, Hydrocephalus, Prominent nasal bridge OMIM:613776
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Renal tubular acidosis, Aminoaciduria, Nephropathy, Glycosuria, Proteinuria, Nephrocalcinosis OMIM:613404
Optic Pathway Glioma
Growth delay, Hydrocephalus ORPHA:2086
Leiomyomatosis, Diffuse, With Alport Syndrome
Abnormal renal physiology, Nephropathy, Hematuria, Thickened glomerular basement membrane, Renal ... OMIM:308940
Mucopolysaccharidosis, Type Vii
Hydrocephalus, Airway obstruction, Hepatomegaly, Postnatal growth retardation, Chronic bronchitis... OMIM:253220
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal nasal morphology, Hydrocephalus, Depressed nasal bridge ORPHA:83473
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Sensorineural hearing impairment, Failure to thrive, Hydrocephalus, Intrauterine growth retardati... OMIM:612938
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Conductive hearing impairment, Hydrocephalus, Inflammatory abnormality of the eye ORPHA:93262
Progeroid Short Stature With Pigmented Nevi
Chordee, Allergic conjunctivitis, Short stature, Hypospadias, Allergic rhinitis, Delayed puberty,... OMIM:176690
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
47,Xyy Syndrome
Asthma, Hydrocephalus, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Male infertility, A... ORPHA:8
Arachnoiditis
Tinnitus, Hearing impairment, Hydrocephalus ORPHA:137817
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Meckel Syndrome, Type 3
Hydrocephalus, Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal pla... OMIM:607361
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria OMIM:618347
Spermatogenic Failure 2
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility OMIM:108420
Fanconi Anemia, Complementation Group B
Hydrocephalus, Micropenis, Hypergonadotropic hypogonadism, Aplastic anemia, Abnormal lung lobatio... OMIM:300514
Crouzon Syndrome
Conductive hearing impairment, Hydrocephalus, Narrow internal auditory canal, Hearing impairment,... ORPHA:207
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Ataxia, Opisthotonus, Inspiratory stridor, Spina bifida, Cervica... OMIM:207950
Aromatase Deficiency
Growth delay, Female infertility, Eunuchoid habitus, Hypergonadotropic hypogonadism, Primary amen... ORPHA:91
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Congenital Sialidosis Type 2
Hydrocephalus, Ataxia, Hepatomegaly, Dysmetria, Hepatosplenomegaly, Myoclonus, Spasticity, Respir... ORPHA:93400
L1 Syndrome
Hydrocephalus, Hemiplegia/hemiparesis, Aqueductal stenosis, Gait disturbance, Spasticity ORPHA:275543
Muscle-Eye-Brain Disease
Hypertonia, Hydrocephalus, Hemiplegia/hemiparesis, Holoprosencephaly, Gait disturbance, Meningocele ORPHA:588
Coccidioidomycosis
Respiratory distress, Hydrocephalus, Pancreatitis, Hypoglycorrhachia, Pneumonia, Pericarditis, Ab... ORPHA:228123
16P13.2 Microdeletion Syndrome
Failure to thrive, Hydrocephalus, Short stature, Dilated third ventricle, Ventriculomegaly, Hypog... ORPHA:500055
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Decreased response to growth hormone stimulation test, Hypospadias, Depressed nasa... OMIM:220210
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Unilateral renal dysplasia, Chronic kidney disease, Nephrotic syndrome, Proximal renal tubular ac... OMIM:146255
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome