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Gene: Stk36 MGI:1920831

Gene Summary

Name:

serine/threonine kinase 36

Synonyms:

Fused, 1700112N14Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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		Stk36^em1(IMPC)J	HET		Early adult	2.79×10^-16
increased prepulse inhibition		Stk36^em1(IMPC)J	HET		Early adult	4.10×10^-05

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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 Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Forepaw

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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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.

Human diseases associated with Stk36 (2 diseases)
Human diseases predicted to be associated with Stk36 (967 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Primary Ciliary Dyskinesia		Asplenia, Ventriculomegaly, Bronchiectasis, Productive cough, Airway obstruction, Wheezing, Hydro...	ORPHA:244
Ciliary Dyskinesia, Primary, 46		Bronchiectasis, Reduced sperm motility, Reduced forced vital capacity, Recurrent otitis media, Re...	OMIM:619436

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

Disease	Matching phenotypes	Source
Proteinuria, Chronic Benign	Renal insufficiency, Proteinuria, Albuminuria	OMIM:618884
Lipoprotein Glomerulopathy	Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria	OMIM:611771
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome	OMIM:617783
Hyperprolinemia Type 1	Prolinuria, Nephropathy, Proteinuria	ORPHA:419
Ciliary Dyskinesia, Primary, 1	Asplenia, Bronchiectasis, Immotile cilia, Communicating hydrocephalus, Recurrent bronchitis, Chro...	OMIM:244400
Nephrotic Syndrome, Type 18	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc...	OMIM:618177
Nephrotic Syndrome, Type 19	Stage 3 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic s...	OMIM:618178
Nephrotic Syndrome, Type 20	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc...	OMIM:301028
Focal Segmental Glomerulosclerosis 8	Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome	OMIM:616032
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Stage 5 chronic kidney disease, Nephrotic syndrome, Pro...	OMIM:601894
Ciliary Dyskinesia, Primary, 25	Chronic bronchitis, Bronchiectasis, Productive cough, Immotile cilia, Infertility, Polysplenia, R...	OMIM:615482
Ciliary Dyskinesia, Primary, 9	Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Chroni...	OMIM:612444
Focal Segmental Glomerulosclerosis 7	Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta...	OMIM:616002
Ciliary Dyskinesia, Primary, 26	Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici...	OMIM:615500
Nephrotic Syndrome, Type 17	Stage 5 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta...	OMIM:618176
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Stage 5 chronic kidney disease, Proteinuria, Nephrotic syndrome	OMIM:614199
Ciliary Dyskinesia, Primary, 11	Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Short stature, Immotile cilia, ...	OMIM:612649
Focal Segmental Glomerulosclerosis 10	Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien...	OMIM:256020
Ciliary Dyskinesia, Primary, 18	Rhinitis, Decreased nasal nitric oxide, Abdominal situs ambiguus, Chronic bronchitis, Respiratory...	OMIM:614874
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropa...	OMIM:137950
Iga Nephropathy, Susceptibility To, 3	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Mesangial hypercellu...	OMIM:616818
Oocyte/Zygote/Embryo Maturation Arrest 9	Female infertility, Oocyte arrest at metaphase I	OMIM:619011
Nephrotic Syndrome, Type 23	Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper...	OMIM:619201
Ciliary Dyskinesia, Primary, 24	Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Infertility, Chronic pulmonary obst...	OMIM:615481
Ciliary Dyskinesia, Primary, 12	Decreased nasal nitric oxide, Bronchiectasis, Short stature, Reduced sperm motility, Chronic pulm...	OMIM:612650
Focal Segmental Glomerulosclerosis 2	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscleros...	OMIM:603965
Primary Ciliary Dyskinesia	Asplenia, Ventriculomegaly, Bronchiectasis, Productive cough, Airway obstruction, Wheezing, Hydro...	ORPHA:244
Ciliary Dyskinesia, Primary, 27	Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici...	OMIM:615504
Nail-Patella-Like Renal Disease	Glomerulopathy, Proteinuria, Renal insufficiency, Microscopic hematuria	ORPHA:2613
Ciliary Dyskinesia, Primary, 34	Decreased nasal nitric oxide, Bronchiectasis, Recurrent bronchitis, Reduced respiratory ciliary b...	OMIM:617091
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Female infertility, Delayed puberty, Primary amenorrhea	OMIM:300604
Iga Nephropathy, Susceptibility To, 2	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria	OMIM:613944
Ciliary Dyskinesia, Primary, 45	Bronchiectasis, Immotile cilia, Chronic rhinitis, Male infertility, Recurrent respiratory infections	OMIM:618801
Focal Segmental Glomerulosclerosis 5	Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:613237
Oocyte/Zygote/Embryo Maturation Arrest 2	Female infertility, Oocyte arrest at metaphase I	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4	Female infertility, Oocyte arrest at metaphase I	OMIM:617743
Ciliary Dyskinesia, Primary, 23	Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,...	OMIM:615451
Thoracic Dysplasia-Hydrocephalus Syndrome	Depressed nasal ridge, Short stature, Communicating hydrocephalus, Ataxia, Respiratory failure	ORPHA:1861
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria	OMIM:607832
Premature Ovarian Failure 19	Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:619245
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Proteinuria, Microscopic hematuria	OMIM:161900
Ciliary Dyskinesia, Primary, 33	Bronchiectasis, Recurrent bronchitis, Recurrent otitis media, Chronic rhinitis, Recurrent pneumon...	OMIM:616726
Ciliary Dyskinesia, Primary, 19	Rhinitis, Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary ...	OMIM:614935
Nephrotic Syndrome, Type 15	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Minimal change glomerulonep...	OMIM:617609
Ciliary Dyskinesia, Primary, 32	Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Infertility, Chronic pulmonary obst...	OMIM:616481
Ciliary Dyskinesia, Primary, 22	Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici...	OMIM:615444
Ciliary Dyskinesia, Primary, 28	Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici...	OMIM:615505
Ciliary Dyskinesia, Primary, 38	Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Immotile cilia, Inferti...	OMIM:618063
Hurler-Scheie Syndrome	Rhinitis, Abnormal pyramidal sign, Short stature, Abnormality of the tonsils, Hepatomegaly, Splen...	ORPHA:93476
Felty Syndrome	Anemia, Rhinitis, Recurrent respiratory infections, Arthritis, Pleuritis, Synovitis, Recurrent ph...	ORPHA:47612
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Nephrotic Syndrome, Type 7	Hemolytic-uremic syndrome, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney diseas...	OMIM:615008
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus, Bronchiectasis, Productive cough, Recurrent lower respiratory tra...	OMIM:618699
Ciliary Dyskinesia, Primary, 5	Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,...	OMIM:608647
Focal Segmental Glomerulosclerosis 6	Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria...	OMIM:614131
Ciliary Dyskinesia, Primary, 7	Decreased nasal nitric oxide, Bronchiectasis, Recurrent otitis media, Chronic rhinitis, Recurrent...	OMIM:611884
Immunodeficiency 102	Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Reduced natural killer cell count,...	OMIM:301082
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur...	OMIM:308990
Ciliary Dyskinesia, Primary, 42	Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chr...	OMIM:618695
Proteus-Like Syndrome	Hydrocephalus, Communicating hydrocephalus, Polycystic ovaries, Anteverted nares, Abnormality of ...	ORPHA:2969
Ciliary Dyskinesia, Primary, 35	Decreased nasal nitric oxide, Abdominal situs ambiguus, Bronchiectasis, Productive cough, Chronic...	OMIM:617092
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, B lymphocytopenia, Communicating hydrocephalus, Sideroblastic anemia, Ataxia, Hypo...	OMIM:616084
Hereditary Cryohydrocytosis With Reduced Stomatin	Stomatocytosis, Hypoglycorrhachia, Spontaneous hemolytic crises, Short stature, Jaundice, Communi...	ORPHA:168577
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Ciliary Dyskinesia, Primary, 37	Bronchiectasis, Chronic rhinitis, Female infertility, Rhinorrhea, Wheezing, Goiter	OMIM:617577
Icf Syndrome	Anemia, Short stature, Communicating hydrocephalus, Lymphopenia, Abnormality of neutrophils, Depr...	ORPHA:2268
Hyperprolactinemia	Female infertility, Menorrhagia, Oligomenorrhea	OMIM:615555
Beemer-Ertbruggen Syndrome	Respiratory insufficiency, Wide nasal bridge, Communicating hydrocephalus, Bulbous nose, Cryptorc...	ORPHA:1237
Yellow Nail Syndrome	Pulmonary arterial hypertension, Rhinitis, Bronchiectasis, Pleuritis, Biliary tract neoplasm, Nep...	ORPHA:662
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Rhinitis, B lymphocytopenia, Asthma, Recurrent bacterial upper respiratory tract infections, Recu...	ORPHA:70593
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Nephrotic Syndrome, Type 9	Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy...	OMIM:615573
Iga Nephropathy, Susceptibility To, 1	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria	OMIM:161950
Female Infertility Due To Oocyte Meiotic Arrest	Oocyte arrest at metaphase I, Female infertility, Abnormal spermatogenesis, Abnormal meiosis	ORPHA:488191
Hydrocephaly-Low Insertion Umbilicus Syndrome	Wide nose, Anomalous pulmonary venous return, Communicating hydrocephalus, Long nose	ORPHA:2184
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility	OMIM:617996
Myoglobinuria, Recurrent	Exercise-induced myoglobinuria, Recurrent myoglobinuria	OMIM:550500
Glutaryl-Coa Dehydrogenase Deficiency	Chorea, Ventriculomegaly, Rigidity, Communicating hydrocephalus, Poor motor coordination, Ataxia,...	ORPHA:25
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Conjunctivitis, Purulent rhinitis, T lymphocytopenia, B lymphocytopenia, Arthritis, Otitis media,...	OMIM:601457
Pineocytoma	Hydrocephalus, Episodic ataxia, Difficulty walking, Increased CSF protein concentration	ORPHA:251912
Ciliary Dyskinesia, Primary, 17	Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Chronic rhinitis, Cough, Recurrent res...	OMIM:614679
Ciliary Dyskinesia, Primary, 16	Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Abnormal ciliary motility, Chronic otitis me...	OMIM:614017
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul...	OMIM:310468
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Short stature, Communicating hydrocephalus, Unilateral renal agenesis, Depressed nasal bridge, An...	ORPHA:1064
Familial Nasal Acilia	Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Recurrent upper respir...	ORPHA:922
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney disease, Mic...	ORPHA:54370
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Ciliary Dyskinesia, Primary, 40	Decreased nasal nitric oxide, Infertility, Reduced respiratory ciliary beating frequency, Azoospe...	OMIM:618300
Leishmaniasis	Leukopenia, Anemia, Rhinitis, Abnormal macrophage morphology, Pancytopenia, Lymphadenopathy, Hepa...	ORPHA:507
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent aphthous stomatitis, Rhinitis, Periodontitis, Acute lymphoblast...	ORPHA:486
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Immunodeficiency By Defective Expression Of Mhc Class Ii	Gait ataxia, Rhinitis, T lymphocytopenia, Recurrent respiratory infections, Neutropenia in presen...	ORPHA:572
Nephrotic Syndrome, Type 2	Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome	OMIM:600995
Papilloma Of Choroid Plexus	Hydrocephalus, Hemiplegia/hemiparesis, Choroid plexus papilloma, Hypertonia	ORPHA:2807
Hyperparathyroidism, Transient Neonatal	Short nasal bridge, Ventriculomegaly, Wide nasal bridge, Enlarged kidney, Splenic cyst, Communica...	OMIM:618188
Biemond Syndrome Type 2	Short stature, Hypogonadism, Hydrocephalus, Delayed puberty, Hypogonadotropic hypogonadism, Obesity	ORPHA:141333
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Atypical Teratoid Rhabdoid Tumor	Ataxia, Hydrocephalus, Hemiplegia/hemiparesis, Cerebral palsy	ORPHA:99966
Imerslund-Grasbeck Syndrome 2	Proteinuria	OMIM:618882
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly, Gait disturbance, Tremor, Kinetic tremor	OMIM:611808
Galactosemia I	Aminoaciduria, Increased level of galactitol in urine, Galactosuria, Albuminuria	OMIM:230400
Eosinophilopenia	Decreased eosinophil count, Allergic rhinitis	OMIM:131430
Spermatogenic Failure 72	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular...	OMIM:619867
Spermatogenic Failure 34	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s...	OMIM:618153
Coenzyme Q10 Deficiency, Primary, 6	Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Steroid-resistant nephr...	OMIM:614650
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Spermatogenic Failure 35	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe...	OMIM:618341
Ciliary Dyskinesia With Defective Radial Spokes	Immotile cilia, Abnormal respiratory system physiology, Nasal polyposis, Chronic rhinitis, Sinusi...	OMIM:242670
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Bulbous nose, Communicating hydrocephalus, Ventriculomegaly, Colpocephaly	OMIM:615219
Asherman Syndrome	Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c...	ORPHA:137686
Spermatogenic Failure 65	Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m...	OMIM:619712
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Glycosuria, Moderate albuminuria, Abnormality of the upper urinary tract, Renal tubula...	ORPHA:99885
Osteopetrosis, Autosomal Recessive 2	Anemia, Osteomyelitis, Hydrocephalus, Pancytopenia, Hepatosplenomegaly, Mandibular osteomyelitis,...	OMIM:259710
Scheie Syndrome	Rhinitis, Cerebral palsy, Spastic paraparesis, Mucopolysacchariduria, Hepatomegaly, Splenomegaly	ORPHA:93474
Hurler Syndrome	Rhinitis, Abnormal pyramidal sign, Wide nasal bridge, Cerebral palsy, Short stature, Hydrocephalu...	ORPHA:93473
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Rhizomelia	OMIM:166990
Hec Syndrome	Respiratory insufficiency, Communicating hydrocephalus, Vaginal hydrocele	ORPHA:2119
Spermatogenic Failure 33	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai...	OMIM:618152
Spermatogenic Failure 37	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai...	OMIM:618429
Spermatogenic Failure 18	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai...	OMIM:617576
Spermatogenic Failure 46	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai...	OMIM:619095
Spermatogenic Failure 27	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s...	OMIM:617965
Edinburgh Malformation Syndrome	Failure to thrive, Hydrocephalus	OMIM:129850
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abnormal glomerular mesangium morphology...	ORPHA:84090
Methylmalonic Acidemia With Homocystinuria	Failure to thrive, Hydrocephalus, Skin rash	ORPHA:26
H Syndrome	Hypogonadism, Bronchiectasis, Decreased testicular size, Enlarged kidney, Short stature, Hydrocep...	ORPHA:168569
Chudley-Mccullough Syndrome	Severe sensorineural hearing impairment, Hydrocephalus, Ventriculomegaly	OMIM:604213
Congenital Nephrotic Syndrome, Finnish Type	Abnormal renal tubule morphology, Proteinuria, Nephrotic syndrome	ORPHA:839
Dermatitis, Atopic	Conjunctivitis, Allergic rhinitis, Asthma, Eczema, Recurrent skin infections, Atopic dermatitis	OMIM:603165
Spermatogenic Failure 56	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh...	OMIM:619515
Spermatogenic Failure 20	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
Ige Responsiveness, Atopic	Asthma, Eczema, Allergic rhinitis	OMIM:147050
Nephrotic Syndrome, Type 6	Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri...	OMIM:614196
Nephrotic Syndrome, Type 3	Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Foc...	OMIM:610725
Juvenile Temporal Arteritis	Conjunctivitis, Allergic rhinitis, Leukocytosis, Eosinophilia	ORPHA:26137
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly, Ataxia	OMIM:618709
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus, Hearing impairment, Periodontitis	ORPHA:1008
Interstitial Nephritis, Karyomegalic	Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ...	OMIM:614817
Aicardi-Goutieres Syndrome 4	Respiratory insufficiency, Spasticity, Convex nasal ridge, Ventriculomegaly, Hydrocephalus, Pancy...	OMIM:610333
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Nephrotic syndrome	OMIM:617006
Fanconi Anemia, Complementation Group R	Hydrocephalus, Growth delay	OMIM:617244
Bloom Syndrome	Acute myeloid leukemia, Acute lymphoblastic leukemia, Decreased proportion of CD4-positive T cell...	ORPHA:125
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Carboxypeptidase N Deficiency	Allergic rhinitis	OMIM:212070
Spermatogenic Failure 43	Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 19	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 49	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Cole-Carpenter Syndrome 1	Short stature, Hydrocephalus, Communicating hydrocephalus	OMIM:112240
Beemer Lethal Malformation Syndrome	Thrombocytopenia, Hydrocephalus, Wide nasal bridge	OMIM:209970
Spermatogenic Failure, X-Linked, 3	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh...	OMIM:301059
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Atypical Hemolytic Uremic Syndrome	Acute kidney injury, Proteinuria, Hematuria	ORPHA:2134
Autosomal Dominant Polycystic Kidney Disease	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit...	ORPHA:730
Spermatogenic Failure 17	Male infertility	OMIM:617214
Pgm3-Cdg	T lymphocytopenia, Bronchiectasis, Eczema, Bone marrow hypocellularity, Eosinophilia, Decreased p...	ORPHA:443811
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Renal tubular atrophy, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Focal segmental glo...	OMIM:613092
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r...	OMIM:611555
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome	OMIM:613913
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Spermatogenic Failure 54	Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,...	OMIM:619379
Thakker-Donnai Syndrome	Communicating hydrocephalus, Anteverted nares, Bulbous nose, Intrauterine growth retardation, Hyd...	ORPHA:1780
Alpha-Mannosidosis, Infantile Form	Clumsiness, Communicating hydrocephalus, Pancytopenia, Hepatosplenomegaly, Spastic paraplegia, At...	ORPHA:309282
Preeclampsia/Eclampsia 1	Proteinuria	OMIM:189800
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Asthma, Skin rash, Jaundice, Hepatomegaly, Exocrine pancreatic insufficiency, ...	OMIM:612714
Partial Chromosome Y Deletion	Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi...	ORPHA:1646
Spermatogenic Failure 58	Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog...	OMIM:619585
Ciliary Dyskinesia, Primary, 36, X-Linked	Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Male infertility, Cough, Nasal...	OMIM:300991
Spermatogenic Failure 40	Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell...	OMIM:618664
Spermatogenic Failure 76	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh...	OMIM:620084
Microsporidiosis	Prostatitis, Biliary tract abnormality, Myositis, Decreased proportion of CD4-positive helper T c...	ORPHA:2552
Masa Syndrome	Shuffling gait, Ventriculomegaly, Short stature, Hydrocephalus, Spastic paraplegia, Paraplegia, L...	OMIM:303350
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Moderate albuminuria, Hydronephrosis	OMIM:619269
Denys-Drash Syndrome	Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome	ORPHA:220
Spermatogenic Failure 25	Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert...	OMIM:617960
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Renal insufficiency, Myoglobinuria	OMIM:255110
Spermatogenic Failure 42	Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf...	OMIM:618745
Spermatogenic Failure 39	Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe...	OMIM:618643
Ciliary Dyskinesia, Primary, 14	Chronic bronchitis, Bronchiectasis, Polysplenia, Reduced sperm motility, Chronic sinusitis, Recur...	OMIM:613807
Silver-Russell Syndrome Due To 11P15 Microduplication	Short stature, Small for gestational age, Failure to thrive, Severe intrauterine growth retardati...	ORPHA:231144
Biemond Syndrome Ii	Hydrocephalus, Short stature	OMIM:210350
Cole-Carpenter Syndrome	Communicating hydrocephalus, Intrauterine growth retardation, Short stature	ORPHA:2050
Diencephalic Syndrome	Macrotia, Cachexia, Decreased body weight, Hydrocephalus	ORPHA:1672
Central Precocious Puberty	Hydrocephalus, Increased body weight, Obesity, Proportionate short stature, Acne	ORPHA:759
Immunodeficiency 58	Nasal congestion, Recurrent aphthous stomatitis, Chronic bronchitis, Bronchiectasis, Allergic rhi...	OMIM:618131
Gómez-López-Hernández Syndrome	Short stature, Hydrocephalus, Ataxia, Impaired pain sensation, Anteverted nares	ORPHA:1532
Spermatogenic Failure 47	Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm	OMIM:619102
Selective Igm Deficiency	Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Decreased pro...	ORPHA:331235
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a...	OMIM:619528
Nephrotic Syndrome, Type 22	Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot pr...	OMIM:619155
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Recurrent...	ORPHA:183675
Spermatogenic Failure 63	Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility	OMIM:619689
Chilton-Okur-Chung Neurodevelopmental Syndrome	Asthma, Recurrent otitis media, Cryptorchidism, Obstructive sleep apnea, Intrauterine growth reta...	OMIM:619841
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Myoglobinuria	OMIM:160010
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Poor fine motor coordination, Somatic sensory dysfunction, Paresthesia, Postural tremor, Hydrocep...	ORPHA:99947
Spermatogenic Failure 30	Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism	OMIM:618110
Adenine Phosphoribosyltransferase Deficiency	Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect...	ORPHA:976
Focal Segmental Glomerulosclerosis 1	Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis	OMIM:603278
Male Infertility Due To Acephalic Spermatozoa	Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep...	ORPHA:529970
Hydrocephalus-Obesity-Hypogonadism Syndrome	Short stature, Hydrocephalus, Azoospermia, Hypergonadotropic hypogonadism, Obesity	ORPHA:2183
Amyloidosis, Familial Visceral	Nephropathy, Hematuria, Proteinuria, Nephrotic syndrome	OMIM:105200
Lujo Hemorrhagic Fever	Leukopenia, Maculopapular exanthema, Rhinitis, Renal insufficiency, Fulminant hepatitis, Resting ...	ORPHA:319213
Immunodeficiency 23	Somatic sensory dysfunction, Cortical myoclonus, Hemolytic anemia, Bronchiectasis, Allergic rhini...	OMIM:615816
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Spermatogenic Failure 7	Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm	OMIM:612997
Spermatogenic Failure 41	Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm	OMIM:618670
Spermatogenic Failure 11	Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility	OMIM:614822
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size	OMIM:619145
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Sensorineural hearing impairment, Short stature, Premature ovarian insufficiency, Failure to thri...	OMIM:619518
Mucopolysaccharidosis Type 2	Wide nose, Wide nasal bridge, Hip osteoarthritis, Short stature, Enlarged tonsils, Communicating ...	ORPHA:580
Dandy-Walker Syndrome	Truncal ataxia, Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Spermatogenic Failure 32	Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia	OMIM:618115
Spermatogenic Failure 71	Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia	OMIM:619831
Alexander Disease	Spasticity, Palatal tremor, Hydrocephalus, Ataxia, Babinski sign, Dysmetria, Increased CSF protei...	OMIM:203450
Paroxysmal Hemicrania	Rhinorrhea, Focal sensory seizure with olfactory features, Rhinitis	ORPHA:157835
Idiopathic Non-Lupus Full-House Nephropathy	Nephrotic syndrome, Acute kidney injury, Glomerulonephritis, Glomerular C3 deposition, Proteinuri...	ORPHA:567544
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Hypouricemia, Renal, 1	Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R...	OMIM:220150
Holoprosencephaly 5	Macrotia, Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosencepha...	OMIM:609637
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Spasticity, Multicystic kidney dysplasia, Ventriculomegaly, Decreased testicular size, Anencephal...	OMIM:615287
1Q21.1 Microduplication Syndrome	Failure to thrive, Hydrocephalus	ORPHA:250994
Spermatogenic Failure 62	Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619672
Lipodystrophy, Partial, Acquired, Susceptibility To	Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome	OMIM:608709
Shprintzen-Goldberg Syndrome	Ventriculomegaly, Communicating hydrocephalus, Apnea, Anteverted nares, Cryptorchidism	ORPHA:2462
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619878
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619646
Pettigrew Syndrome	Gait ataxia, Spasticity, Prominent nose, Ventriculomegaly, Choreoathetosis, Hydrocephalus, Dandy-...	OMIM:304340
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619937
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Moderate albuminuria	OMIM:614231
Deafness-Infertility Syndrome	Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit...	OMIM:611102
Nephronophthisis 13	Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glomerular subepithelial immune-comp...	OMIM:614377
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Male infertility, Immotile sperm	OMIM:608653
Spermatogenic Failure 78	Microcephalic sperm head, Male infertility, Tapered sperm head	OMIM:620170
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia	OMIM:619108
Spermatogenic Failure 1	Oligospermia, Cryptozoospermia, Male infertility	OMIM:258150
Developmental And Epileptic Encephalopathy 36	Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Hydrocephalus, Anteverted ...	OMIM:300884
Epilepsy, Pyridoxine-Dependent	Hydrocephalus	OMIM:266100
Premature Ovarian Failure 13	Female infertility, Amenorrhea, Oligomenorrhea	OMIM:617442
Developmental And Epileptic Encephalopathy 49	Spasticity, Prominent nose, Ventriculomegaly, Myoclonus, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Familial Cold Autoinflammatory Syndrome 3	Allergic rhinitis, Asthma, Recurrent sinopulmonary infections, Recurrent otitis media, Hashimoto ...	OMIM:614468
Premature Ovarian Failure 6	Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea, St...	OMIM:612310
Fried Syndrome	Macrotia, Hydrocephalus, Hearing impairment	ORPHA:85335
Spermatogenic Failure 29	Male infertility, Immotile sperm, Non-obstructive azoospermia	OMIM:618091
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Gait ataxia, Communicating hydrocephalus, Prominent nasal bridge, Ventriculomegaly	OMIM:617011
Autosomal Recessive Malignant Osteopetrosis	Pulmonary arterial hypertension, Anemia, Hydrocephalus, Apnea, Chronic rhinitis, Lymphadenopathy,...	ORPHA:667
Congenital Toxoplasmosis	Ventriculomegaly, Hydrocephalus, Intrauterine growth retardation, Failure to thrive in infancy, H...	ORPHA:858
Galloway-Mowat Syndrome 8	Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria...	OMIM:618349
Spermatogenic Failure 22	Cryptozoospermia, Male infertility, Non-obstructive azoospermia	OMIM:617706
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Dandy-Walker malformation	OMIM:617967
Spermatogenic Failure 70	Oligospermia, Reduced sperm motility, Azoospermia, Male infertility	OMIM:619828
Congenital Disorder Of Glycosylation, Type Iiw	Moderate albuminuria, Membranoproliferative glomerulonephritis, Microscopic hematuria	OMIM:619525
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Ring Chromosome Y Syndrome	Abnormal spermatogenesis, Short stature, Azoospermia, Male hypogonadism, Female infertility, Male...	ORPHA:261529
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Gait ataxia, Ventriculomegaly, Communicating hydrocephalus, Difficulty walking, Prominent nasal b...	ORPHA:457359
Spermatogenic Failure 5	Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head	OMIM:243060
Spermatogenic Failure 16	Male infertility, Reduced sperm motility, Acephalic spermatozoa	OMIM:617187
Spermatogenic Failure 44	Male infertility, Reduced sperm motility, Acephalic spermatozoa	OMIM:619044
Pontocerebellar Hypoplasia, Type 15	Chronic neutropenia, Anemia, Spastic tetraplegia, Hydrocephalus, Hypertonia, Thrombocytopenia	OMIM:619302
Spermatogenic Failure 64	Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology	OMIM:619696
Isochromosomy Yp	Decreased testicular size, Male infertility, Azoospermia	ORPHA:98797
Dent Disease 2	Aminoaciduria, Proximal tubulopathy, Low-molecular-weight proteinuria, Nephrocalcinosis, Hypercal...	OMIM:300555
Lecithin:Cholesterol Acyltransferase Deficiency	Renal insufficiency, Proteinuria	OMIM:245900
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Truncal obesity, Abdominal obesity, Short stature, Postnatal growth retardation	OMIM:618160
Dopamine Beta-Hydroxylase Deficiency	Anemia, Rhinitis, Retrograde ejaculation, Nocturia, Elevated urinary dopamine, Dyspnea	ORPHA:230
Alg12-Cdg	Wide nose, Ventriculomegaly, B lymphocytopenia, Recurrent pharyngitis, Intrauterine growth retard...	ORPHA:79324
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria	OMIM:266120
Cryoglobulinemia, Familial Mixed	Proteinuria, Hematuria, Abnormal renal physiology, Chronic kidney disease	OMIM:123550
Frasier Syndrome	Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome	OMIM:136680
Immunodeficiency, Common Variable, 6	Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co...	OMIM:613496
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Stage 5 chronic kidney disease, Microscopic hematuria, Minimal change glomerulonephritis, Macrosc...	ORPHA:567546
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Erythroderma, Eczema, Allergic rhinitis	ORPHA:330064
Imerslund-Grasbeck Syndrome 1	Proteinuria, Microscopic hematuria	OMIM:261100
Temple Syndrome	Short stature, Small for gestational age, Hydrocephalus, Obesity, Postnatal growth retardation	ORPHA:254516
Fanconi Renotubular Syndrome 3	Glycosuria, Aminoaciduria, Hyperphosphaturia, Low-molecular-weight proteinuria	OMIM:615605
Congenital Hydrocephalus	Sensorineural hearing impairment, Ventriculomegaly, Hydrocephalus, Posteriorly rotated ears, Colp...	ORPHA:2185
C3 Glomerulopathy	Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro...	ORPHA:329918
Degcags Syndrome	Ventriculomegaly, Hepatosplenomegaly, Hepatomegaly, Vocal cord paralysis, Pneumonia, Prominent no...	OMIM:619488
Growth Hormone Deficiency, Isolated Partial	Short stature, Postnatal growth retardation	OMIM:615925
Persistent Mullerian Duct Syndrome, Types I And Ii	Bilateral cryptorchidism, Male infertility	OMIM:261550
Premature Ovarian Failure 20	Female infertility, Secondary amenorrhea	OMIM:619938
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Spastic tetraparesis, Tremor, Hydrocephalus, Broad-based gait	OMIM:619470
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Proximal tubulopathy, Glycosuria, Generalized aminoaciduria, Decreased g...	OMIM:613388
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Coenzyme Q10 Deficiency, Primary, 3	Proteinuria, Nephrotic syndrome	OMIM:614652
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Intellectual Developmental Disorder, Autosomal Recessive 68	Small for gestational age, Hydrocephalus, Protruding ear	OMIM:618302
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Acute kidney injury, Dysuria, Renal tubular epithelial necrosis, Moderate albuminuria, Hematuria,...	ORPHA:95455
Glycogen Storage Disease X	Renal insufficiency, Myoglobinuria	OMIM:261670
Hereditary Renal Hypouricemia	Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype...	ORPHA:94088
Acquired Partial Lipodystrophy	Glomerulopathy, Proteinuria, Microscopic hematuria	ORPHA:79087
Nephrotic Syndrome, Type 8	Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Thin glomerular ...	OMIM:615244
Renal Hypoplasia	Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec...	ORPHA:93101
Temple Syndrome	Short stature, Small for gestational age, Hydrocephalus, Recurrent otitis media, Overweight, Trun...	OMIM:616222
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Ichthyosis Prematurity Syndrome	Asthma, Neonatal asphyxia, Erythroderma, Allergic rhinitis	OMIM:608649
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Proteinuria, Renal insufficiency	ORPHA:2668
Eosinophilic Gastroenteritis	Anemia, Allergic rhinitis, Asthma, Leukocytosis, Eosinophilia, Atopic dermatitis	ORPHA:2070
Griscelli Syndrome	Leukopenia, Spasticity, Encephalocele, Short stature, Hepatitis, Jaundice, Hydrocephalus, Ataxia,...	ORPHA:381
Classic Galactosemia	Decreased fertility in females, Primary amenorrhea, Gait imbalance, Postural tremor, Secondary am...	ORPHA:79239
Alport Syndrome 2, Autosomal Recessive	Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem...	OMIM:203780
Fanconi Renotubular Syndrome 1	Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Lacticaciduria, Low-mole...	OMIM:134600
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis	OMIM:614455
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Rhinitis, Recurrent respiratory infections, Absent nipple, Depressed nasal bridge, Hypoplastic ni...	OMIM:614941
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Al Amyloidosis	Nephrotic syndrome, Renal interstitial amyloid deposits, Abnormality of the kidney, Albuminuria, ...	ORPHA:85443
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Mirage Syndrome	Leukopenia, Anemia, Aspiration pneumonia, Short stature, Microphallus, Decreased testicular size,...	OMIM:617053
Papillary Tumor Of The Pineal Region	Hydrocephalus, Episodic ataxia, Difficulty walking, Increased CSF protein concentration	ORPHA:251915
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Isochromosomy Yq	Decreased testicular size, Male infertility, Azoospermia	ORPHA:98798
Galloway-Mowat Syndrome 5	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc...	OMIM:617731
Central Neurocytoma	Paresthesia, Hydrocephalus, Abnormal lateral ventricle morphology, Ataxia, Babinski sign, Pain in...	ORPHA:73256
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Whipple Disease	Respiratory insufficiency, Anemia, Abnormal pyramidal sign, Arthritis, Myoclonus, Hydrocephalus, ...	ORPHA:3452
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Obesity, Hydrocephalus, Hypogonadism	OMIM:601794
Genetic Steroid-Resistant Nephrotic Syndrome	Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Foamy urine, Diffuse mesangial...	ORPHA:656
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis	OMIM:618913
Netherton Syndrome	Hypereosinophilia, Asthma, Allergic rhinitis, Erythroderma	OMIM:256500
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Low-set ears, Hydrocephalus, Short stature	ORPHA:1516
Williams-Beuren Region Duplication Syndrome	Ventriculomegaly, Short stature, Small for gestational age, Hydrocephalus, Failure to thrive, Chr...	OMIM:609757
Alexander Disease Type I	Failure to thrive, Cachexia, Hydrocephalus	ORPHA:363717
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Ventriculomegaly, Short stature, Oculomotor apraxia, Hydrocephalus, Cholestasis...	OMIM:615630
Acalvaria	Spina bifida, Holoprosencephaly, Hydrocephalus	ORPHA:945
Spinocerebellar Ataxia Type 32	Testicular atrophy, Progressive cerebellar ataxia, Male infertility, Azoospermia	ORPHA:276183
6P22 Microdeletion Syndrome	Low-set ears, Hydrocephalus, Hearing impairment, Overfolded helix	ORPHA:251046
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:225
Krabbe Disease	Failure to thrive, Hydrocephalus, Hearing impairment, Increased CSF protein concentration	OMIM:245200
Palmoplantar Carcinoma, Multiple Self-Healing	Chronic rhinitis	OMIM:615225
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Frontal Encephalocele	Spina bifida, Hydrocephalus, Encephalocele	ORPHA:1931
Familial Mediterranean Fever, Autosomal Dominant	Renal amyloidosis, Renal insufficiency, Proteinuria	OMIM:134610
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, Hypospadias, Albuminuria, Renal cortical microcysts, Hydronephrosis	OMIM:214100
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Allergic rhinitis, Asthma, Hydrocephalus, Eczema, Annular pancreas	OMIM:618162
Systemic Sclerosis	Acute kidney injury, Abnormality of the kidney, Glomerulonephritis, Albuminuria, Proteinuria, Ren...	ORPHA:90291
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria...	OMIM:612925
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria	ORPHA:54057
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hydrocephalus, Short nose, Spastic tetraparesis, Hypospadias, Short columella, Depressed nasal br...	ORPHA:171839
Lcat Deficiency	Renal insufficiency, Acute kidney injury, Stage 5 chronic kidney disease, Decreased glomerular fi...	ORPHA:650
Galloway-Mowat Syndrome 2, X-Linked	Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri...	OMIM:301006
Cednik Syndrome	Proteinuria, Nephrotic syndrome	ORPHA:66631
Glycogen Storage Disease Xi	Renal insufficiency, Myoglobinuria	OMIM:612933
Cholestasis, Progressive Familial Intrahepatic, 12	Proteinuria	OMIM:620010
Lissencephaly Syndrome, Norman-Roberts Type	Wide nose, Wide nasal bridge, Respiratory distress, Hypoplastic spleen, Intrauterine growth retar...	ORPHA:89844
Pallister-Hall-Like Syndrome	Short stature, Anterior hypopituitarism, Hydrocephalus, Pulmonary hypoplasia, Short nose, Depress...	OMIM:241800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria	OMIM:612924
Anti-Glomerular Basement Membrane Disease	Renal insufficiency, Glomerulopathy, Proteinuria, Hematuria	ORPHA:375
Multiple Sulfatase Deficiency	Spasticity, Ventriculomegaly, Short stature, Hydrocephalus, Ataxia, Mucopolysacchariduria, Hepato...	OMIM:272200
Familial Male-Limited Precocious Puberty	Macroorchidism, Long penis, Oligospermia, Male infertility, Acne	ORPHA:3000
Infantile Sialic Acid Storage Disease	Nephrotic syndrome, Hydrocephalus, Hepatomegaly, Anteverted nares, Vacuolated lymphocytes, Spleno...	OMIM:269920
Functioning Gonadotropic Adenoma	Pituitary hypothyroidism, Decreased response to growth hormone stimulation test, Impotence, Enlar...	ORPHA:91348
Preeclampsia	Acute kidney injury, Abnormality of the kidney, Proteinuria, Chronic kidney disease	ORPHA:275555
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele	OMIM:182940
Glycogen Storage Disease V	Myoglobinuria, Dark urine	OMIM:232600
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Wide nasal bridge, Truncal ataxia, Hydrocephalus, Depressed nasal bridg...	OMIM:220220
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Hearing impairment	OMIM:615191
Arnold-Chiari Malformation Type Ii	Meningocele, Somatic sensory dysfunction, Spasticity, Myelomeningocele, Ventriculomegaly, Aqueduc...	ORPHA:1136
Dent Disease	Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re...	ORPHA:1652
Intellectual Developmental Disorder, X-Linked 30	Short stature, Clumsiness, Hydrocephalus, Short nose, Anteverted nares, Prominent nasal bridge	OMIM:300558
Hypotrichosis Simplex Of The Scalp	Atopic dermatitis, Allergic rhinitis	ORPHA:90368
Oxoglutaric Aciduria	Short stature, Hydrocephalus, Ataxia, Abnormal urine alpha-ketoglutarate concentration, Abnormal ...	ORPHA:31
Ovarian Dysgenesis 3	Delayed puberty, Female infertility, Primary amenorrhea	OMIM:614324
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria	OMIM:612926
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia, Male infertility, Recurrent otitis media	OMIM:618948
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Underdeveloped nasal alae, Rhinitis, Absent nipple, Eczema, Respiratory distress, Short nose, Dep...	OMIM:305100
Aa Amyloidosis	Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Nephropathy,...	ORPHA:85445
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Mucopolysacchariduria, Nephrotic syndrome	OMIM:215250
Bresek Syndrome	Vesicoureteral reflux, Convex nasal ridge, Decreased testicular size, Hydrocephalus, Growth delay...	ORPHA:85284
Igg4-Related Kidney Disease	Nephrotic range proteinuria, Hydronephrosis, Tubulointerstitial nephritis, Abnormal ureter morpho...	ORPHA:449395
Spermatogenic Failure 38	Absent sperm flagella, Tapered sperm head, Reduced sperm motility, Oligospermia, Male infertility...	OMIM:618433
Nasu-Hakola Disease	Chorea, Spasticity, Ventriculomegaly, Oculomotor apraxia, Hydrocephalus, Acute leukemia	ORPHA:2770
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Albers-Schönberg Osteopetrosis	Osteomyelitis, Short stature, Arthritis, Hydrocephalus, Mandibular osteomyelitis, Hearing impairm...	ORPHA:53
Craniotelencephalic Dysplasia	Low-set, posteriorly rotated ears, Arrhinencephaly, Hydrocephalus, Frontal encephalocele	ORPHA:1528
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Microtia, Hydrocephalus, Intrauterine growth retardation, Hearing impairment	ORPHA:1914
Dent Disease 1	Renal phosphate wasting, Aminoaciduria, Proximal tubulopathy, Stage 5 chronic kidney disease, Gly...	OMIM:300009
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Macrotia, Short stature, Hydrocephalus, Low-set, posteriorly rotated ears, Hearing impairment	ORPHA:2701
Pontocerebellar Hypoplasia, Type 7	Spasticity, Ventriculomegaly, Wide nasal bridge, Oculomotor apraxia, Myoclonus, Hydrocephalus, Ch...	OMIM:614969
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity, Hydrocephalus	OMIM:616521
Thanatophoric Dysplasia Type 2	Encephalocele, Ventriculomegaly, Short stature, Hydrocephalus, Holoprosencephaly, Hearing impairment	ORPHA:93274
Thalidomide Embryopathy	Chronic rhinitis, Short stature	ORPHA:3312
Alport Syndrome 3, Autosomal Dominant	Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem...	OMIM:104200
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephropathy, Proteinuria, Nephrotic syndrome	ORPHA:1192
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Ventriculomegaly	OMIM:614120
Idiopathic Steroid-Resistant Nephrotic Syndrome	Abnormal urine output, Acute kidney injury, Stage 5 chronic kidney disease, Minimal change glomer...	ORPHA:567548
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Renal insufficiency, Myoglobinuria	ORPHA:2364
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macrotia, Hydrocephalus	OMIM:300886
Hb Bart'S Hydrops Fetalis	Anemia, Hydrocephalus, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Splenomegaly	ORPHA:163596
Gracile Bone Dysplasia	Asplenia, Short stature, Hydrocephalus, Hypoplastic spleen, Micropenis	OMIM:602361
Alagille Syndrome 2	Renal insufficiency, Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Proteinuria	OMIM:610205
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Intrauterine growth retardation, Ventriculomegaly	ORPHA:272
Thanatophoric Dysplasia	Ventriculomegaly, Hydrocephalus, Disproportionate short-limb short stature, Intrauterine growth r...	ORPHA:2655
Methylcobalamin Deficiency Type Cble	Ventriculomegaly, Hydrocephalus, Failure to thrive, Hearing impairment, Intrauterine growth retar...	ORPHA:2169
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Microphthalmia, Syndromic 9	Respiratory insufficiency, Agenesis of pulmonary vessels, Wide nasal bridge, Short stature, Bilat...	OMIM:601186
Joubert Syndrome With Hepatic Defect	Intrahepatic biliary atresia, Cirrhosis, Multicystic kidney dysplasia, Renal insufficiency, Oculo...	ORPHA:1454
Nephronophthisis 18	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Hydrocephalus, Portal fibrosis, Cho...	OMIM:615862
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Nephrolithiasis, Obstructive azoospermia	OMIM:301060
Spermatogenic Failure 75	Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,...	OMIM:619949
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly, Large earlobe	OMIM:602501
Nephrotic Syndrome, Type 11	Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn...	OMIM:616730
Multicentric Carpotarsal Osteolysis Syndrome	Stage 5 chronic kidney disease, Renal insufficiency, Bilateral renal atrophy, Proteinuria	OMIM:166300
Coach Syndrome 2	Hepatic fibrosis, Oculomotor apraxia, Hydrocephalus, Apneic episodes in infancy, Portal fibrosis,...	OMIM:619111
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ventriculomegaly, Wide nasal bridge, Hydrocephalus, Short nose, Anteverted nares, Cryptorchidism	OMIM:618577
Stormorken Syndrome	Asplenia, Anemia, Howell-Jolly bodies, Prominent nose, Short stature, Hematuria, Epistaxis, Throm...	OMIM:185070
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute kidney injury, Myoglobinuria	OMIM:268200
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Ventriculomegaly, Short stature, Abnormal auditory evoked poten...	OMIM:109120
Mucopolysaccharidosis, Type Ii	Tracheobronchomalacia, Short stature, Asthma, Dermatan sulfate excretion in urine, Hydrocephalus,...	OMIM:309900
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Ventriculomegaly, Short stature, Hydrocephalus, Failure to thrive, Hearing impairment, Intrauteri...	OMIM:619833
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Low-set ears, Posteriorly rotated ears	ORPHA:163961
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Spasticity, Hydrocephalus, Abnormal pyramidal sign, Babinski sign	OMIM:615599
Metatropic Dysplasia	Aplasia/Hypoplasia of the lungs, Severe short stature, Depressed nasal bridge, Hydrocephalus	ORPHA:2635
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Proximal tubulopathy, Ventriculomegaly, Hydrocephalus, Unilateral renal agenesis, Panc...	OMIM:614576
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia	OMIM:309120
Aminopterin/Methotrexate Embryofetopathy	Meningocele, Spinal dysraphism, Encephalocele, Short stature, Anencephaly, Hydrocephalus, Holopro...	ORPHA:1908
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Spasticity, Hydrocephalus, Abnormal pyramidal sign, Babinski sign	ORPHA:397951
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, ...	ORPHA:228302
Renal Dysplasia	Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ...	ORPHA:93108
B4Galt1-Cdg	Inflammatory abnormality of the skin, Small for gestational age, Hydrocephalus, Low-set ears, Dan...	ORPHA:79332
Vacterl Association With Hydrocephalus	Respiratory insufficiency, Respiratory failure, Aqueductal stenosis, Hydrocephalus, Stillbirth, R...	OMIM:276950
Galloway-Mowat Syndrome 10	Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial sclerosis, Pr...	OMIM:619609
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Eosinophilic infiltration of the esophagus, Allergic rhinitis, Asthma, Eosinophilic microabscess ...	ORPHA:411696
Edinburgh Malformation Syndrome	Failure to thrive, Hydrocephalus, Low-set ears	ORPHA:1895
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Short stature, Hydrocephalus, Low-set ears, Intrauterine growth retardation	OMIM:300863
Myh9-Related Disease	Nephropathy, Renal insufficiency, Nephritis, Proteinuria	ORPHA:182050
Renal Hypoplasia, Bilateral	Vesicoureteral reflux, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria, Renal cyst, D...	ORPHA:97362
Galloway-Mowat Syndrome 4	Congenital nephrotic syndrome, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesang...	OMIM:617730
Neonatal Lupus Erythematosus	Malar rash, Anemia, Maculopapular exanthema, Abnormality of the liver, Hemolytic anemia, Skin ras...	ORPHA:398124
Spermatogenic Failure 77	Azoospermia, Oligospermia, Male infertility, Cryptorchidism, Elevated circulating follicle stimul...	OMIM:620103
Tenorio Syndrome	Wide nose, Recurrent aphthous stomatitis, Ventriculomegaly, Cerebral palsy, Clumsiness, Hydroceph...	OMIM:616260
Melanosis, Neurocutaneous	Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation	OMIM:249400
Intellectual Developmental Disorder, Autosomal Dominant 36	Gait ataxia, Ventriculomegaly, Inability to walk, Hydrocephalus, Unilateral renal agenesis, Antev...	OMIM:616362
Frasier Syndrome	Nephroblastoma, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Proteinuria, Focal segme...	ORPHA:347
Emanuel Syndrome	Macrotia, Ventriculomegaly, Hypogonadism, Infertility, Hydrocephalus, Recurrent otitis media, Fai...	ORPHA:96170
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Abnormal nasal morphology, Depressed nasal bridge, Hydrocephalus	ORPHA:83473
Nephrotic Syndrome, Type 1	Renal tubular atrophy, Congenital nephrotic syndrome, Glomerular sclerosis, Diffuse mesangial scl...	OMIM:256300
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Abnormal location of ears, Ventriculomegaly, Short stature	OMIM:218350
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Small for gestational age, Disproportionate short-trunk short stature, Hydrocephalus	OMIM:613330
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Proteinuria	OMIM:616026
Joubert Syndrome With Renal Defect	Encephalocele, Oculomotor apraxia, Hydrocephalus, Gait disturbance, Ataxia, Apnea, Nephropathy, A...	ORPHA:220497
Osteopetrosis, Autosomal Recessive 5	Anemia, Ventriculomegaly, Spastic tetraplegia, Limb hypertonia, Short stature, Hydrocephalus, Ext...	OMIM:259720
Chiari Malformation Type Ii	Myelomeningocele, Spina bifida, Hydrocephalus, Ataxia, Cervical myelopathy, Opisthotonus, Inspira...	OMIM:207950
Mucopolysaccharidosis Type 1	Splenomegaly, Paresthesia, Short stature, Abnormal nasal morphology, Hydrocephalus, Hemiplegia/he...	ORPHA:579
Chromosome 17P13.1 Deletion Syndrome	Ankle clonus, Hydrocephalus, Prominent nasal bridge, Anteverted nares	OMIM:613776
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Aminoaciduria, Renal tubular acidosis, Glycosuria, Nephropathy, Nephrocalcinosis, Proteinuria	OMIM:613404
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Renal artery stenosis, Proteinuria	OMIM:209010
Nephrotic Syndrome, Type 14	Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mes...	OMIM:617575
Spermatogenic Failure 2	Oligospermia, Male infertility, Azoospermia, Non-obstructive azoospermia	OMIM:108420
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Glycosuria, Hyperphosphaturia, Fatigable weakness of swallowing muscles, Proteinur...	ORPHA:436271
Muscle-Eye-Brain Disease	Meningocele, Hydrocephalus, Hemiplegia/hemiparesis, Gait disturbance, Holoprosencephaly, Hypertonia	ORPHA:588
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus	OMIM:304100
Galloway-Mowat Syndrome 6	Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome	OMIM:618347
Emanuel Syndrome	Macrotia, Ventriculomegaly, Chronic oral candidiasis, Hydrocephalus, Recurrent sinusitis, Recurre...	OMIM:609029
Meckel Syndrome, Type 3	Hepatic fibrosis, Multicystic kidney dysplasia, Hydrocephalus, Malformation of the hepatic ductal...	OMIM:607361
Optic Pathway Glioma	Hydrocephalus, Growth delay	ORPHA:2086
Leiomyomatosis, Diffuse, With Alport Syndrome	Glomerular basement membrane lamellation, Stage 5 chronic kidney disease, Hematuria, Abnormal ren...	OMIM:308940
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Sensorineural hearing impairment, Hydrocephalus, Failure to thrive, Intrauterine growth retardati...	OMIM:612938
47,Xyy Syndrome	Macroorchidism, Asthma, Hydrocephalus, Azoospermia, Oligospermia, Hypospadias, Male infertility, ...	ORPHA:8
Distal 16P11.2 Microdeletion Syndrome	Vesicoureteral reflux, Abnormality of the kidney, Renal agenesis, Proteinuria, Chronic kidney dis...	ORPHA:261222
Fanconi Anemia, Complementation Group B	Ventriculomegaly, Hypogonadism, Hydrocephalus, Abnormal lung lobation, Thrombocytopenia, Hypergon...	OMIM:300514
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Stage 5 chronic kidney disease, Proteinuria	OMIM:219900
Mucopolysaccharidosis, Type Vii	Chronic bronchitis, Short stature, Dermatan sulfate excretion in urine, Hydrocephalus, Recurrent ...	OMIM:253220
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Conductive hearing impairment, Inflammatory abnormality of the eye, Hydrocephalus	ORPHA:93262
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Progeroid Short Stature With Pigmented Nevi	Allergic conjunctivitis, Short stature, Allergic rhinitis, Premature ovarian insufficiency, Hypos...	OMIM:176690
Crouzon Syndrome	Conjunctivitis, Conductive hearing impairment, Narrow internal auditory canal, Hydrocephalus, Hea...	ORPHA:207
Aromatase Deficiency	Eunuchoid habitus, Female infertility, Male infertility, Hypergonadotropic hypogonadism, Growth d...	ORPHA:91
Congenital Sialidosis Type 2	Spasticity, Respiratory tract infection, Myoclonus, Hydrocephalus, Ataxia, Hepatosplenomegaly, Dy...	ORPHA:93400
Arachnoiditis	Hydrocephalus, Hearing impairment, Tinnitus	ORPHA:137817
Spermatogenic Failure 15	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:616950
Meckel Syndrome, Type 4	Meningocele, Encephalocele, Anencephaly, Hydrocephalus, Renal cyst, Bile duct proliferation, Intr...	OMIM:611134
Coccidioidomycosis	Exudative pleural effusion, Pericarditis, Eosinophilia, Panniculitis, Pneumonia, Hypoglycorrhachi...	ORPHA:228123
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Ventriculomegaly, Spontaneous, recurrent epistaxis, Oculomotor apraxia, Hepatosplenomegaly, Spast...	ORPHA:2072
Greig Cephalopolysyndactyly Syndrome	Ventriculomegaly, Wide nasal bridge, Hydrocephalus, Hypospadias, Cryptorchidism	OMIM:175700
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Nephrotic syndrome, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Distal renal tubular ...	OMIM:146255
Axial Mesodermal Dysplasia Spectrum	Abnormality of the liver, Short stature, Aplasia/Hypoplasia of the lungs, Hydrocephalus, Renal cy...	ORPHA:1834
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Hydrocephalus, Depressed nasal bridge, Hyp...	OMIM:220210
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Holoprosencephaly, Hydrocephalus, Aqueductal stenosis	ORPHA:2182
Dyschondrosteosis-Nephritis Syndrome	Nephropathy, Hematuria, Proteinuria	ORPHA:1765
L1 Syndrome	Spasticity, Aqueductal stenosis, Hydrocephalus, Gait disturbance, Hemiplegia/hemiparesis	ORPHA:275543
Desmosterolosis	Spasticity, Ventriculomegaly, Rigidity, Hydrocephalus, Short nose, Severe short stature, Depresse...	ORPHA:35107
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:613153
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Recurrent myoglobinuria, Chronic...	ORPHA:368
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Abnormality of the kidney, Proteinuria	ORPHA:369
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Short stature, Hydrocephalus, Low-set ears, Intrauterine growth retardation	ORPHA:163966
Joubert Syndrome	Encephalocele, Episodic tachypnea, Oculomotor apraxia, Hydrocephalus, Gait disturbance, Ataxia, A...	ORPHA:475
Alport Syndrome	Renal tubular atrophy, IgA deposition in the glomerulus, Glomerular basement membrane lamellation...	ORPHA:63
Meckel Syndrome, Type 6	Absent gallbladder, Hepatic fibrosis, Anencephaly, Hydrocephalus, Pulmonary hypoplasia, Renal cys...	OMIM:612284
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, Premature ovarian insufficiency, Female infertility, Cupped ear, Amenorrhea	OMIM:110100
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Multicystic kidney dysplasia, Ventriculomegaly, Short stature, Hydrocephalus, Intraute...	OMIM:257300
Autoinflammatory-Pancytopenia Syndrome	Proteinuria, Membranoproliferative glomerulonephritis	OMIM:619858
Hydrocephalus, Normal-Pressure, 1	Urinary incontinence, Gait disturbance, Normal pressure hydrocephalus	OMIM:236690
Alport Syndrome 1, X-Linked	Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Nep...	OMIM:301050
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus	ORPHA:380
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Hyperuricosuria, Stage 5 chronic kidney disease, Renal sodium wasting, G...	ORPHA:3337
16P13.2 Microdeletion Syndrome	Dilated third ventricle, Ventriculomegaly, Short stature, Hypogonadism, Hydrocephalus, Failure to...	ORPHA:500055
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria	OMIM:602199
3C Syndrome	Ventriculomegaly, Wide nasal bridge, Short stature, Postnatal growth retardation, Hydrocephalus, ...	ORPHA:7
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Low-set ears, Obesity, Hydrocephalus	ORPHA:2180
Spermatogenic Failure 28	Decreased testicular size, Male infertility, Elevated circulating luteinizing hormone level, Non-...	OMIM:618086
Amelocerebrohypohidrotic Syndrome	Hydrocephalus, Short stature	ORPHA:1946
Trisomy 17P	Wide nose, Prominent nose, Short stature, Polycystic kidney dysplasia, Hydrocephalus, Hypoplasia ...	ORPHA:261290
Acrodysostosis 1 With Or Without Hormone Resistance	Irregular menstruation, Hypogonadism, Short stature, Small for gestational age, Mild postnatal gr...	OMIM:101800
Diabetic Embryopathy	Spinal dysraphism, Abnormality of the pancreas, Hydrocephalus, Abnormality of the pulmonary arter...	ORPHA:1926
Genetic Recurrent Myoglobinuria	Acute kidney injury, Exercise-induced myoglobinuria, Fatigable weakness of swallowing muscles, Ol...	ORPHA:99845
Neuraminidase Deficiency	Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptides, Prote...	OMIM:256550
Galloway-Mowat Syndrome 7	Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn...	OMIM:618348
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Irregular menstruation, Urinary incontinence, Pulmonary arterial hypertension, Rhizomelia, Hydroc...	OMIM:616482
Multiple Sulfatase Deficiency	Short stature, Hydrocephalus, Depressed nasal bridge, Mucopolysacchariduria, Anteverted nares, He...	ORPHA:585
Triploidy	Meningocele, Abnormality of the pancreas, Abnormality of the gallbladder, Hydrocephalus, Hypoplas...	ORPHA:3376
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus	OMIM:613155
Plasminogen Deficiency, Type I	Conjunctivitis, Ventriculomegaly, Periodontitis, Hydrocephalus, Nephritis, Recurrent upper respir...	OMIM:217090
Intellectual Developmental Disorder, Autosomal Dominant 35	Gait ataxia, Hydrocephalus, Ventriculomegaly, Intrauterine growth retardation	OMIM:616355
Lowry-Maclean Syndrome	Convex nasal ridge, Short nasal bridge, Abnormality of the abdominal organs, Hemiparesis, Bilater...	ORPHA:2409
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus, Gait disturbance, Hemiplegia	ORPHA:2181
Pearson Syndrome	Reticulocytosis, Lacticaciduria, Hepatic steatosis, Bone marrow hypocellularity, Hepatomegaly, Hy...	ORPHA:699
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Decreased nasal nitric oxide, Chronic sinusitis, Recurrent otitis media, Male infertility, Cough,...	OMIM:619607
Joubert Syndrome 14	Meningocele, Encephalocele, Hydrocephalus, Ataxia, Renal cyst, Growth delay, Prominent nasal brid...	OMIM:614424
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Hydrocephalus, Hydranencephaly, Intrauterine growth retardation, Dandy-Walker m...	OMIM:225790
Hereditary Amyloidosis With Primary Renal Involvement	Abnormal lymph node morphology, Tubulointerstitial nephritis, Anemia, Primary testicular failure,...	ORPHA:85450
Spermatogenic Failure 6	Globozoospermia, Male infertility, Decreased acrosin in sperm head	OMIM:102530
Spermatogenic Failure 14	Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ...	OMIM:615842
Dextrocardia	Pancreatic hypoplasia, Abnormal pulmonary situs morphology, Abnormality of abdominal situs, Hydro...	ORPHA:1666
Papillorenal Syndrome	Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Renal malrot...	OMIM:120330
Glutaric Acidemia I	Lateral ventricle dilatation, Ketonuria, Spastic diplegia, Rigidity, Hydrocephalus, Choreoathetos...	OMIM:231670
Focal Facial Dermal Dysplasia Type Iv	Hemiparesis, Hydrocephalus, Abnormal mast cell morphology	ORPHA:398189
Hurler Syndrome	Recurrent respiratory infections, Wide nasal bridge, Short stature, Dermatan sulfate excretion in...	OMIM:607014
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia...	OMIM:619313
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Wide nasal bridge, Abnormality of the gallbladder, Hydrocephalus, H...	ORPHA:2075
Hydrocephalus, Congenital, X-Linked	Spasticity, Hydrocephalus, Aqueductal stenosis, Spastic paraplegia	OMIM:307000
Hypophosphatemic Rickets, X-Linked Recessive	Renal phosphate wasting, Proximal tubulopathy, Low-molecular-weight proteinuria, Nephrocalcinosis...	OMIM:300554
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Hypospadias, Proteinuria	OMIM:619428
Oligomeganephronia	Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr...	ORPHA:2260
Adams-Oliver Syndrome 2	Low-set ears, Hydrocephalus, Protruding ear, Lateral ventricle dilatation	OMIM:614219
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Proteinuria	OMIM:603585
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus, Decreased body weight, Growth delay, Short stature	OMIM:614886
Becker Muscular Dystrophy	Abnormal urinary color, Myoglobinuria	ORPHA:98895
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus, Ataxia, Apnea, Nephropathy, Anteverted nares, Renal insufficiency, ...	ORPHA:2318
Tetrasomy 5P	Hydrocephalus, Failure to thrive, Low-set ears, Posteriorly rotated ears, Postnatal growth retard...	ORPHA:3309
Joubert Syndrome With Ocular Defect	Encephalocele, Oculomotor apraxia, Hydrocephalus, Gait disturbance, Ataxia, Apnea, Abnormal patte...	ORPHA:220493
Ventriculomegaly With Defects Of The Radius And Kidney	Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Ectopic kidney, Horseshoe kidney, ...	OMIM:602200
Aase-Smith Syndrome I	Hydrocephalus, Abnormal pinna morphology, Dandy-Walker malformation	OMIM:147800
Free Sialic Acid Storage Disease	Proteinuria, Nephrotic syndrome	ORPHA:834
Osteopetrosis, Autosomal Recessive 1	Anemia, Osteomyelitis, Hydrocephalus, Pancytopenia, Hepatomegaly, Facial paralysis, Thrombocytope...	OMIM:259700
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Short stature, Hydrocephalus, Mild hearing impairment, Low-set ears...	ORPHA:459061
Cystinosis	Aminoaciduria, Nephropathy, Proteinuria, Renal insufficiency, Renal tubular dysfunction	ORPHA:213
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, Glomerulonephritis, Renal h...	OMIM:614376
Cutis Laxa, Autosomal Recessive, Type Iib	Failure to thrive, Hydrocephalus, Intrauterine growth retardation, Protruding ear	OMIM:612940
Thanatophoric Dysplasia, Type I	Hydrocephalus, Pulmonary hypoplasia, Disproportionate short-limb short stature, Lethal short-limb...	OMIM:187600
Gorlin Syndrome	Wide nasal bridge, Hydrocephalus, Cryptorchidism, Hypogonadotropic hypogonadism, Abnormality of t...	ORPHA:377
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Ventriculomegaly, Hydrocephalus, Abnormal pinna morphology, Severe sensorineural hearing impairme...	OMIM:614195
Paroxysmal Cold Hemoglobinuria	Hemoglobinuria, Abnormal urinary color	ORPHA:90035
Craniopharyngioma	Hypogonadism, Hydrocephalus, Obesity, Delayed puberty, Growth delay, Hypogonadotropic hypogonadis...	ORPHA:54595
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	OMIM:260500
Spermatogenic Failure, X-Linked, 4	Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone...	OMIM:301077
Gaucher Disease	Respiratory insufficiency, Ventriculomegaly, Oculomotor apraxia, Hemiplegia/hemiparesis, Hepatome...	ORPHA:355
Cystic Fibrosis	Biliary cirrhosis, Cirrhosis, Bronchiectasis, Asthma, Recurrent bronchopulmonary infections, Chro...	OMIM:219700
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Spasticity, Ventriculomegaly, Spastic tetraplegia, Rigidity, Hydrocephalus, Ataxia, Difficulty wa...	OMIM:618476
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hearing impairment, Holoprosencephaly, Hydrocephalus, Growth delay	ORPHA:77298
Oculocerebral Hypopigmentation Syndrome, Preus Type	Short stature, Hydrocephalus, Ataxia, Abnormality of neutrophils, Hypertonia, Hypochromic anemia	ORPHA:2720
Achondroplasia	Rhizomelia, Hydrocephalus, Disproportionate short stature, Obesity, Hearing impairment	ORPHA:15
Distal Tetrasomy 15Q	Sensorineural hearing impairment, Microtia, Hydrocephalus, Large for gestational age, Low-set ear...	ORPHA:314588
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria	ORPHA:2774
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Renal salt wasting, Polyuria, Proteinuria, Hyperechogenic kidneys, Chronic kidney disease	OMIM:613845
Juvenile Nephropathic Cystinosis	Abnormal urine potassium concentration, Aminoaciduria, Proximal tubulopathy, Renal phosphate wast...	ORPHA:411634
Pheochromocytoma--Islet Cell Tumor Syndrome	Elevated urinary norepinephrine, Proteinuria	OMIM:171420
Mucopolysaccharidosis Type 3	Ventriculomegaly, Adenoiditis, Hepatomegaly, Hypertonia, Vocal cord paresis, Thick nasal alae, Sp...	ORPHA:581
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Anotia, Microtia	OMIM:243440
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Failure to thrive, Hydrocephalus, Ventriculomegaly	ORPHA:60040
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Tubulointerstitial nephritis, Proteinuria, Hematuria	OMIM:616901
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Oculomotor apraxia, Hydrocephalus, Short nose, Pleural effusion, Depressed nasa...	OMIM:617822
Lymphangioleiomyomatosis	Pneumothorax, Renal angiomyolipoma, Hydrocephalus, Hematuria, Emphysema, Lymphadenopathy, Abnorma...	ORPHA:538
Cole-Carpenter Syndrome 2	Short stature, Hydrocephalus, Postnatal growth retardation	OMIM:616294
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Dilated third ventricle, Sensorineural hearing impairment, Short stature, Lateral ventricle dilat...	OMIM:619575
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Renal Agenesis	Ureteral agenesis, Renal insufficiency, Bilateral renal agenesis, Renal agenesis, Unilateral rena...	ORPHA:411709
Heme Oxygenase 1 Deficiency	Proteinuria, Hematuria, Nephritis	OMIM:614034
Hemangioblastoma	Hydrocephalus, Dysesthesia, Neurogenic bladder	ORPHA:252054
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Ventriculomegaly, Hemiparesis, Hydrocephalus, Gait disturbance, Upper motor neuron dysfunction, A...	ORPHA:395
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Short stature, Skin rash, Cachexia, Hydrocephalus, Hearing impairment	ORPHA:220295
Short-Rib Thoracic Dysplasia 12	Respiratory insufficiency, Periportal fibrosis, Anencephaly, Hydrocephalus, Cystic renal dysplasi...	OMIM:269860
Wild Type Attr Amyloidosis	Nephropathy, Renal insufficiency, Proteinuria, Nephrotic syndrome	ORPHA:330001
Adams-Oliver Syndrome	Pulmonary arterial hypertension, Leukopenia, Cirrhosis, Encephalocele, Hemiparesis, Hydrocephalus...	ORPHA:974
Pauci-Immune Glomerulonephritis	Nephrotic range proteinuria, Tubulointerstitial nephritis, Acute kidney injury, Glomerular sclero...	ORPHA:93126
Pelvis-Shoulder Dysplasia	Mesomelic/rhizomelic limb shortening, Short stature, Microtia, Spina bifida, Hydrocephalus, Hydra...	ORPHA:2839
Renal Hypodysplasia/Aplasia 1	Proteinuria, Bilateral renal agenesis, Renal dysplasia	OMIM:191830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Glycosuria, Hyperphosphaturia, Proteinuria, Renal Fanconi syndrome, Renal tubular ...	OMIM:220110
Czeizel-Losonci Syndrome	Ureteral agenesis, Myelomeningocele, Congenital megaureter, Spina bifida, Hydrocephalus, Pulmonar...	ORPHA:2437
Medulloblastoma	Cerebellar ataxia associated with quadrupedal gait, Hydrocephalus, Ataxia, Dysmetria, Progressive...	ORPHA:616
Thanatophoric Dysplasia Type 1	Lethal short-limbed short stature, Hearing impairment, Hydrocephalus, Ventriculomegaly	ORPHA:1860
Joubert Syndrome 2	Neonatal breathing dysregulation, Encephalocele, Episodic tachypnea, Oculomotor apraxia, Hydrocep...	OMIM:608091
Leigh Syndrome With Nephrotic Syndrome	Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Heavy prote...	ORPHA:255249
Chromosome 6Q24-Q25 Deletion Syndrome	Lateral ventricle dilatation, Hydrocephalus, Growth delay, Low-set ears, Cupped ear, Intrauterine...	OMIM:612863
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Hydrocephalus, External ear malformation, Hearing impairment, Dandy-Walker malf...	ORPHA:1647
Cryptococcosis	Cirrhosis, Osteomyelitis, Nodular pattern on pulmonary HRCT, Lymphoid leukemia, Prostatitis, Hydr...	ORPHA:1546
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:370959
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hemiparesis, Unsteady gait, Hydrocephalus	OMIM:617542
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hematuria, Elevated urinary epinephrine, Glomerular sclerosis, Elevated urinary dopamine, Elevate...	ORPHA:276621
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Pulmonary arterial hypertension, Leukopenia, Anemia, Conjunctivitis, Recurrent respiratory infect...	ORPHA:505248
1Q44 Microdeletion Syndrome	Hydrocephalus, Growth delay, Short stature, Ventriculomegaly	ORPHA:238769
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Enlarged kidney, Hydrocephalus, Pulmonary hypoplasia, Neonatal death, Hydroneph...	OMIM:314390
Hydrolethalus	Anencephaly, Arrhinencephaly, Hydrocephalus, Low-set, posteriorly rotated ears, Low-set ears	ORPHA:2189
Trisomy 1Q	Wide nose, Multicystic kidney dysplasia, Congenital megaureter, Ventriculomegaly, Hydrocephalus, ...	ORPHA:261344
Muenke Syndrome	Hydrocephalus, Sensorineural hearing impairment	ORPHA:53271
Cryoglobulinemic Vasculitis	Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria	ORPHA:91138
Coenzyme Q10 Deficiency, Primary, 1	Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Focal segmental glomerulosclerosis, Recurr...	OMIM:607426
Isotretinoin-Like Syndrome	Anotia, Microtia, Hydrocephalus, Aplasia/Hypoplasia of the inner ear, Bilateral sensorineural hea...	ORPHA:2306
Stromme Syndrome	Wide nasal bridge, Hydrocephalus, Short columella, Accessory spleen, Bilateral renal hypoplasia, ...	OMIM:243605
Donnai-Barrow Syndrome	Proteinuria	ORPHA:2143
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Ventriculomegaly, Hydrocephalus, Hypoplasia of penis, Gait disturbance, Supernumerary nipple, Sho...	ORPHA:1812
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Dicarboxylic aciduria	OMIM:231530
Fg Syndrome Type 1	Sensorineural hearing impairment, Ventriculomegaly, Short stature, Microtia, Hydrocephalus, Slend...	ORPHA:93932
Holoprosencephaly	Respiratory insufficiency, Spinal dysraphism, Anterior hypopituitarism, Holoprosencephaly, Depres...	ORPHA:2162
Arachnoid Cyst	Urinary incontinence, Encephalocele, Urinary bladder sphincter dysfunction, Inability to walk, Pa...	ORPHA:2356
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Vesicoureteral reflux, Leukemia, Hydrocephalus, Unilateral renal agenesis, Supernumerary nipple, ...	OMIM:619951
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Proteinuria	ORPHA:69126
Proximal Renal Tubular Acidosis	Aminoaciduria, Hyperuricosuria, Glycosuria, Hyperphosphaturia, Bicarbonate-wasting renal tubular ...	ORPHA:47159
Osteopetrosis, Autosomal Recessive 7	Anemia, Lateral ventricle dilatation, Hydrocephalus, Recurrent pneumonia, Growth delay, Hepatomeg...	OMIM:612301
Rhombencephalosynapsis	Ventriculomegaly, Hydrocephalus, Ataxia, Short nose, Anteverted nares	ORPHA:59315
Desmosterolosis	Rhizomelia, Ventriculomegaly, Hydrocephalus, Failure to thrive, Low-set ears, Cupped ear, Posteri...	OMIM:602398
Distal Renal Tubular Acidosis	Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Hypermagnesiuria, Hyperphosphaturia, Renal c...	ORPHA:18
Chromosome 6Pter-P24 Deletion Syndrome	Sensorineural hearing impairment, Hydrocephalus, Dandy-Walker malformation, Low-set ears, Posteri...	OMIM:612582
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Cryptorchidism, Neonatal respiratory distress, Respiratory failure requiring assis...	OMIM:310400
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the nose, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the lu...	ORPHA:3301
Monosomy 18Q	Choanal stenosis, Prominent nose, Short stature, Poor coordination, Bilateral cryptorchidism, Hyd...	ORPHA:1600
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Pediatric Systemic Lupus Erythematosus	Nephrotic syndrome, Hematuria, Nephritis, Proteinuria, Abnormality of the urinary system, Renal i...	ORPHA:93552
Ddost-Cdg	Nephrotic range proteinuria	ORPHA:300536
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hemolytic-uremic syndrome, Methylmalonic aciduria, Cystathioninuria, Hematuria, Nephropathy, Prot...	OMIM:277400
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria	OMIM:612300
Intellectual Developmental Disorder, Autosomal Dominant 65	Low-set ears, Macrotia, Noncommunicating hydrocephalus, Posteriorly rotated ears	OMIM:619320
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria	ORPHA:119
Fraser Syndrome 3	Ureteral agenesis, Wide nose, Convex nasal ridge, Hydrocephalus, Hypoplasia of penis, Abnormal lu...	OMIM:617667
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Congenital hypoparathyroidism, Male infertility, Parathyroid agenesis, Hypercalciuria	ORPHA:2239
Crouzon Syndrome	Conjunctivitis, Conductive hearing impairment, Hydrocephalus, Keratitis, Atresia of the external ...	OMIM:123500
Dyssegmental Dysplasia, Silverman-Handmaker Type	Respiratory insufficiency, Encephalocele, Wide nasal bridge, Hydrocephalus, Pulmonary hypoplasia,...	ORPHA:1865
Pentalogy Of Cantrell	Absent gallbladder, Encephalocele, Polysplenia, Anencephaly, Hydrocephalus, Pulmonary hypoplasia,...	ORPHA:1335
Turner Syndrome Due To Structural X Chromosome Anomalies	Short stature, Secondary amenorrhea, Premature ovarian insufficiency, Thyroiditis, Gastrointestin...	ORPHA:99413
Mosaic Monosomy X	Short stature, Secondary amenorrhea, Premature ovarian insufficiency, Thyroiditis, Gastrointestin...	ORPHA:99228
Monosomy X	Short stature, Secondary amenorrhea, Premature ovarian insufficiency, Thyroiditis, Gastrointestin...	ORPHA:99226
Turner Syndrome	Short stature, Secondary amenorrhea, Premature ovarian insufficiency, Thyroiditis, Gastrointestin...	ORPHA:881
Hyperinsulinism Due To Hnf4A Deficiency	Glycosuria, Proteinuria, Renal Fanconi syndrome	ORPHA:263455
Thrombotic Thrombocytopenic Purpura, Hereditary	Hemolytic-uremic syndrome, Proteinuria, Abnormal renal physiology, Microscopic hematuria	OMIM:274150
Osteootohepatoenteric Syndrome	Failure to thrive, Hydrocephalus, Hearing impairment, Weight loss	OMIM:619377
Jacobsen Syndrome	Spasticity, Hydrocephalus, Short nose, Holoprosencephaly, Hypospadias, Depressed nasal bridge, Cr...	OMIM:147791
Mucopolysaccharidosis, Type Vi	Pulmonary arterial hypertension, Short stature, Dermatan sulfate excretion in urine, Hydrocephalu...	OMIM:253200
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria	OMIM:145600
Alexander Disease	Respiratory insufficiency, Chorea, Spasticity, Abnormal pyramidal sign, Infectious encephalitis, ...	ORPHA:58
Dural Sinus Malformation	Somatic sensory dysfunction, Parkinsonism, Hemiparesis, Poor coordination, Hydrocephalus, Ataxia,...	ORPHA:97339
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate, Proteinur...	ORPHA:488627
Holoprosencephaly 14	Macrotia, Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Alobar holoprosencephaly, Subepen...	OMIM:619895
Schimke Immuno-Osseous Dysplasia	Nephrotic range proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, N...	ORPHA:1830
Fabry Disease	Renal insufficiency, Lipiduria, Urinary mulberry cells, Proteinuria	OMIM:301500
Distal Limb Deficiencies-Micrognathia Syndrome	Renal hypoplasia, Renal insufficiency, Proteinuria	ORPHA:1307
Cardiofaciocutaneous Syndrome 1	Splenomegaly, Short stature, Oculomotor apraxia, Hydrocephalus, Short nose, Depressed nasal bridg...	OMIM:115150
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria	ORPHA:36412
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Myoglobinuria	ORPHA:713
Aapoaiv Amyloidosis	Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Pro...	ORPHA:439232
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary arterial hypertension, Hemolytic-uremic syndrome, Methylmalonic aciduria, Pulmonary emb...	ORPHA:79282
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Underdeveloped nasal alae, Decreased response to growth hormone stimulation test, Short stature, ...	OMIM:616007
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Severe short stature, Hydrocephalus, Encephalocele, Neonatal short-limb short stature	OMIM:224400
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Short stature, Neurogenic bladder, Hydrocephalus, Reduced forced vital capacity...	OMIM:613686
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Sensorineural hearing impairment	OMIM:615249
Lateral Meningocele Syndrome	Meningocele, Conductive hearing impairment, Short stature, Abnormality of the middle ear ossicles...	OMIM:130720
Walker-Warburg Syndrome	Ventriculomegaly, Hydrocephalus, Protruding ear, Dandy-Walker malformation, Low-set ears, Posteri...	ORPHA:899
Achondroplasia	Choanal stenosis, Rhizomelia, Hydrocephalus, Respiratory distress, Recurrent otitis media, Pulmon...	OMIM:100800
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Nephrotic syndrome, Nephropathy, Proteinuria, Renal insufficiency, Focal segmenta...	OMIM:254900
Dubowitz Syndrome	Respiratory insufficiency, Anemia, Short stature, Asthma, Hydrocephalus, Acute lymphoblastic leuk...	ORPHA:235
Fanconi Anemia, Complementation Group A	Anemia, Reticulocytopenia, Short stature, Pancytopenia, Ectopic kidney, Male infertility, Hypergo...	OMIM:227650
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:603387
Cerebral Visual Impairment	Cerebral palsy, Clumsiness, Oculomotor apraxia, Hydrocephalus, Infectious encephalitis	ORPHA:447788
Cerebrooculonasal Syndrome	Conductive hearing impairment, Encephalocele, Ventriculomegaly, Hydrocephalus, Posteriorly rotate...	OMIM:605627
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased fertility, Irregular menstruation, Increased urinary 11-deoxycorticosterone level, Adre...	ORPHA:90793
Hereditary Pheochromocytoma-Paraganglioma	Renal cell carcinoma, Elevated urinary epinephrine, Hematuria, Glomerular sclerosis, Elevated uri...	ORPHA:29072
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2715
Glycogen Storage Disease Due To Aldolase A Deficiency	Acute kidney injury, Myoglobinuria	ORPHA:57
Posterior Meningocele	Meningocele, Neural tube defect, Occipital meningocele, Upper limb spasticity, Hydrocephalus, Par...	ORPHA:268810
Raine Syndrome	Hydronephrosis, Choanal stenosis, Short stature, Hydroureter, Hydrocephalus, Pulmonary hypoplasia...	OMIM:259775
Fanconi Anemia, Complementation Group D2	Anemia, Reticulocytopenia, Short stature, Hydrocephalus, Pancytopenia, Ectopic kidney, Hypergonad...	OMIM:227646
Pseudo-Torch Syndrome 3	Acute kidney injury, Proteinuria	OMIM:618886
22Q11.2 Deletion Syndrome	Meningocele, Hypoplasia of the thymus, Wide nasal bridge, Hypoparathyroidism, Abnormality of the ...	ORPHA:567
Meningioma	Enlarged pituitary gland, Urinary incontinence, Increased circulating prolactin concentration, Im...	ORPHA:2495
Peho Syndrome	External ear malformation, Macrotia, Hydrocephalus, Ventriculomegaly	ORPHA:2836
1Q21.1 Microdeletion Syndrome	Sensorineural hearing impairment, Short stature, Hydrocephalus, Failure to thrive, Intrauterine g...	ORPHA:250989
Lymphedema-Distichiasis Syndrome	Tubulointerstitial nephritis, Glomerulopathy, Renal duplication, Recurrent urinary tract infectio...	ORPHA:33001
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Tubulointerstitial nephritis, Ventriculomegaly, Polycystic kidney dysplasia, Hydrocephalus, Dicar...	ORPHA:228308
7Q11.23 Microduplication Syndrome	Ventriculomegaly, Short stature, Hydrocephalus, Unilateral renal agenesis, Tracheomalacia, Hyposp...	ORPHA:96121
Acquired Aneurysmal Subarachnoid Hemorrhage	Hyperglycorrhachia, Hydrocephalus, Increased CSF lactate	ORPHA:90065
Diffuse Alveolar Hemorrhage	Proteinuria, Hematuria	ORPHA:90060
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal...	OMIM:613154
Renal Cysts And Diabetes Syndrome	Stage 5 chronic kidney disease, Abnormality of the kidney, Glycosuria, Unilateral renal agenesis,...	OMIM:137920
Carnitine Palmitoyltransferase Ii Deficiency	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Hydroc...	ORPHA:157
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Sensorineural hearing impairment, Normal pressure hydrocephalus, Lateral ventricle dilatation, Bi...	ORPHA:300570
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Proteinuria, Membranoproliferative glomerulonephritis, Macroscopic hematuria	ORPHA:251004
Smith-Lemli-Opitz Syndrome	Wide nasal bridge, Eczema, Pulmonary hypoplasia, Hepatic steatosis, Holoprosencephaly, Hepatomega...	OMIM:270400
Iniencephaly	Spinal dysraphism, Encephalocele, Rhizomelia, Myelomeningocele, Spina bifida, Anencephaly, Hydroc...	ORPHA:63259
Ohdo Syndrome	Proteinuria	OMIM:249620
Meckel Syndrome	Pancreatic cysts, Asplenia, Urethral atresia, Multicystic kidney dysplasia, Encephalocele, Depres...	ORPHA:564
Fanconi Anemia, Complementation Group L	Anemia, Wide nasal bridge, Hydrocephalus, Intrauterine growth retardation, Unilateral renal agene...	OMIM:614083
Complete Androgen Insensitivity Syndrome	Bilateral cryptorchidism, Delayed puberty, Male infertility, Elevated circulating luteinizing hor...	ORPHA:99429
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hydrocephalus, Keratoconjunctivitis sicca, Intrauterine growth retardation, Lateral ventricular a...	OMIM:616914
Simple Cryoglobulinemia	Nephrotic syndrome, Abnormality of the kidney, Membranoproliferative glomerulonephritis, Nephriti...	ORPHA:91139
Vacterl With Hydrocephalus	Aqueductal stenosis, Microtia, third degree, Anotia, Spina bifida, Arrhinencephaly, Hydrocephalus...	ORPHA:3412
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus, Hearing impairment	OMIM:601499
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hydrocephalus, Sensorineural hearing impairment, Hearing impairment, Posteriorly rotated ears	OMIM:239300
Aymé-Gripp Syndrome	Sensorineural hearing impairment, Ventriculomegaly, Short stature, Microtia, Hydrocephalus, Peric...	ORPHA:1272
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Abnormality of the pancreas, Hydrocephalus, Respiratory distress, Depressed nasal bridge, Antever...	ORPHA:1555
Cousin Syndrome	Rhizomelia, Hydrocephalus, Disproportionate short stature, Hydranencephaly, Microtia, first degre...	OMIM:260660
Schimke Immunoosseous Dysplasia	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Renal insufficiency, Focal segme...	OMIM:242900
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Microscopic hematuria	ORPHA:86818
Aicardi-Goutieres Syndrome 9	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Glomerular sclerosis, Thicken...	OMIM:619487
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Ventriculomegaly, Choroid plexus cyst	OMIM:617866
Meckel Syndrome, Type 1	Dilated fourth ventricle, Asplenia, Enlarged naris, Ventriculomegaly, Anencephaly, Hydrocephalus,...	OMIM:249000
Pheochromocytoma	Elevated urinary norepinephrine, Proteinuria, Renal artery stenosis	OMIM:171300
Malakoplakia	Dysuria, Urinary urgency, Hematuria, Urinary bladder inflammation, Proteinuria, Urinary hesitancy	ORPHA:556
Laurin-Sandrow Syndrome	Underdeveloped nasal alae, Prominent nose, Depressed nasal ridge, Hydrocephalus, Short columella,...	ORPHA:2378
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased fertility, Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, H...	ORPHA:572333
Mucopolysaccharidosis-Plus Syndrome	Renal tubular atrophy, Nephrotic syndrome, Enlarged kidney, Nephritis, Proteinuria, Focal segment...	OMIM:617303
Infantile Nephropathic Cystinosis	Aminoaciduria, Glycosuria, Hyperphosphaturia, Abnormal tubulointerstitial morphology, Low-molecul...	ORPHA:411629
Pfeiffer Syndrome	Choanal stenosis, Hydrocephalus, Short nose, Depressed nasal bridge, Choanal atresia	OMIM:101600
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Proteinuria, Hematuria	OMIM:192315
Galloway-Mowat Syndrome	Nephropathy, Proteinuria, Nephrotic syndrome	ORPHA:2065
Androgen Insensitivity Syndrome	Testicular neoplasm, Delayed puberty, Male infertility, Cryptorchidism	ORPHA:754
Marshall-Smith Syndrome	Pulmonary arterial hypertension, Choanal stenosis, Aspiration pneumonia, Ventriculomegaly, Recurr...	OMIM:602535
Legionnaires Disease	Renal insufficiency, Hematuria, Proteinuria	ORPHA:549
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Majeed Syndrome	Glomerulopathy, Proteinuria, Microscopic hematuria	ORPHA:77297
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory insufficiency, Atelectasis, Repeated pneumothoraces, Torticollis, Hydrocephalus, Resp...	ORPHA:536467
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Respiratory insufficiency, Anemia, Overhanging nasal tip, Underdeveloped nasa...	ORPHA:163979
Cardiofaciocutaneous Syndrome	Macrotia, Short stature, Hydrocephalus, Low-set, posteriorly rotated ears, Failure to thrive in i...	ORPHA:1340
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Pelvic kidney, Peripheral pulmonary artery stenosis, Cryptorchidism, Dandy-Walker ...	OMIM:613001
Otopalatodigital Syndrome Type 2	Encephalocele, Myelomeningocele, Hydrocephalus, Failure to thrive, Abnormal pinna morphology, Low...	ORPHA:90652
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Adrenal hyperplasia, Oligospermia, Primary amenorrhea, Choanal atresia, Decreased fertility, Vesi...	ORPHA:95699
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Ventriculomegaly, Wide nasal bridge, Hepatic steatosis, Hypertonia, Depressed nasal tip, Isometri...	OMIM:619475
Tetraamelia Syndrome 1	Asplenia, Single naris, Urethral atresia, Peripheral pulmonary vessel aplasia, Adrenal gland agen...	OMIM:273395
Cystinosis, Nephropathic	Aminoaciduria, Stage 5 chronic kidney disease, Glycosuria, Hyperphosphaturia, Hematuria, Medullar...	OMIM:219800
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus, Respiratory distress, Short nose, Depressed nasal bridge, Tra...	ORPHA:93259
Apert Syndrome	Morphological abnormality of the semicircular canal, Conductive hearing impairment, Sensorineural...	ORPHA:87
Alobar Holoprosencephaly	Single naris, Spasticity, Aspiration pneumonia, Depressed nasal ridge, Inability to walk, Neural ...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Single naris, Spasticity, Aspiration pneumonia, Depressed nasal ridge, Inability to walk, Neural ...	ORPHA:93926
Lobar Holoprosencephaly	Single naris, Spasticity, Aspiration pneumonia, Depressed nasal ridge, Inability to walk, Neural ...	ORPHA:93924
Semilobar Holoprosencephaly	Single naris, Spasticity, Aspiration pneumonia, Depressed nasal ridge, Inability to walk, Neural ...	ORPHA:220386
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Spasticity, Hydrocephalus, Short nose, Depressed nasal bridge, Long nose	OMIM:618590
Holoprosencephaly-Postaxial Polydactyly Syndrome	Absent nares, Encephalocele, Hydrocephalus, Hypoplasia of penis, Thyroid hypoplasia, Abnormal lun...	ORPHA:2166
15Q Overgrowth Syndrome	Hydrocephalus, Dandy-Walker malformation, Mixed hearing impairment, Low-set, posteriorly rotated ...	ORPHA:314585
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Wide nasal bridge, Hydrocephalus, Absent nipple, Depressed nasal bridge, Ureteral triplication, H...	OMIM:104350
Renal Nutcracker Syndrome	Proteinuria, Hematuria, Renal artery stenosis, Microscopic hematuria	ORPHA:71273
Eosinophilic Granulomatosis With Polyangiitis	Tubulointerstitial nephritis, Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency	ORPHA:183
Trisomy 8P	Aplasia/Hypoplasia of the gallbladder, Hydrocephalus, Abnormal lung lobation, Short nose, Depress...	ORPHA:264450
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Convex nasal ridge, Short stature, Decreased testicular size, Hydrocephalus, Short nose, Hepatic ...	OMIM:619321
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria	OMIM:251900
Kabuki Syndrome	Conductive hearing impairment, Macrotia, Ventriculomegaly, Short stature, Sensorineural hearing i...	ORPHA:2322
Pseudotrisomy 13 Syndrome	Encephalocele, Hydrocephalus, Holoprosencephaly, Low-set ears, Posteriorly rotated ears	OMIM:264480
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria	OMIM:620138
Beare-Stevenson Cutis Gyrata Syndrome	Choanal stenosis, Ventriculomegaly, Hydrocephalus, Respiratory distress, Hypospadias, Depressed n...	OMIM:123790
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Myoglobinuria, Red-brown urine	ORPHA:228305
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Ventriculomegaly, Microtia, Hydrocephalus, Low-set ears, Dandy-Walker malformation	OMIM:614643
Endocrine-Cerebroosteodysplasia	Ventriculomegaly, Wide nasal bridge, Microphallus, Enlarged kidney, Hydrocephalus, Holoprosenceph...	OMIM:612651
Koolen-De Vries Syndrome Due To A Point Mutation	Ventriculomegaly, Wide nasal bridge, Pineal cyst, Eczema, Testicular neoplasm, Thick nasal alae, ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Ventriculomegaly, Wide nasal bridge, Pineal cyst, Eczema, Testicular neoplasm, Thick nasal alae, ...	ORPHA:363958
Hypoplasminogenemia	Periodontitis, Hydrocephalus, Cervicitis, Dandy-Walker malformation	ORPHA:722
Osteopathia Striata With Cranial Sclerosis	Conductive hearing impairment, Short stature, Microtia, Hydrocephalus, Spina bifida occulta, Fail...	OMIM:300373
Fanconi Anemia	Ventriculomegaly, Abnormal testis morphology, Thrombocytopenia, Choanal atresia, Abnormality of t...	ORPHA:84
Holoprosencephaly 7	Wide nasal bridge, Absent nasal septal cartilage, Hydrocephalus, Semilobar holoprosencephaly, Bif...	OMIM:610828
Mohr Syndrome	Conductive hearing impairment, Hydrocephalus, Short stature	OMIM:252100
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Rhizomelia, Short stature, Microtia, Prominent antitragus, Hydrocephalus, Low-set ears	OMIM:245600
Cockayne Syndrome A	Irregular menstruation, Sensorineural hearing impairment, Ventriculomegaly, Hypogonadism, Short s...	OMIM:216400
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Increased circulating prolactin concentration, Anterior hypopituitarism...	ORPHA:91350
Arima Syndrome	Renal tubular atrophy, Stage 5 chronic kidney disease, Renal sodium wasting, Polycystic kidney dy...	OMIM:243910
Partial Androgen Insensitivity Syndrome	Urogenital sinus anomaly, Perineal hypospadias, Aplasia of the ovary, Bilateral cryptorchidism, A...	ORPHA:90797
Lhermitte-Duclos Disease	Hydrocephalus, Ataxia, Ovarian neoplasm	ORPHA:65285
Hydrolethalus Syndrome 1	Anencephaly, Arrhinencephaly, Bifid nose, Abnormal lung lobation, Midline defect of the nose, Hyp...	OMIM:236680
Mend Syndrome	Short stature, Hydrocephalus, Dandy-Walker malformation, Failure to thrive, Low-set ears, Overfol...	OMIM:300960
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Multiple bladder diverticula	ORPHA:2728
Mend Syndrome	Short stature, Abnormal auditory evoked potentials, Hydrocephalus, Failure to thrive, Low-set ear...	ORPHA:401973
Nail-Patella Syndrome	Nephrotic syndrome, Hematuria, Glomerulonephritis, Proteinuria, Renal insufficiency	OMIM:161200
Hajdu-Cheney Syndrome	Wide nose, Wide nasal bridge, Periodontitis, Short stature, Hydrocephalus, Hypospadias, Delayed p...	ORPHA:955
Linear Skin Defects With Multiple Congenital Anomalies 1	Short stature, Hydrocephalus, Hearing impairment, Chordee, Colpocephaly	OMIM:309801
46,Xy Partial Gonadal Dysgenesis	Decreased fertility in females, Urogenital sinus anomaly, Testicular gonadoblastoma, Nephrotic sy...	ORPHA:251510
Glycogen Storage Disease Ia	Enlarged kidney, Decreased glomerular filtration rate, Proteinuria, Focal segmental glomeruloscle...	OMIM:232200
Donnai-Barrow Syndrome	Non-acidotic proximal tubulopathy, Proteinuria	OMIM:222448
Apert Syndrome	Rhizomelic arm shortening, Ventriculomegaly, Hydrocephalus, Chronic otitis media, Hearing impairm...	OMIM:101200
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Stage 5 chronic kidney disease, Hematuria, Nephropathy, Proteinuria, Chronic kidney disease	ORPHA:1018
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Renal insufficiency, Mild proteinuria, Hypospadias	OMIM:619147
Nail-Patella Syndrome	Nephrotic syndrome, Stage 5 chronic kidney disease, Abnormality of the kidney, Hematuria, Nephrit...	ORPHA:2614
Galloway-Mowat Syndrome 3	Nephrotic syndrome, Stage 5 chronic kidney disease, Glomerular sclerosis, Diffuse mesangial scler...	OMIM:617729
Marden-Walker Syndrome	Hydrocephalus, Failure to thrive, Severe short stature, Growth delay, Low-set ears, Intrauterine ...	ORPHA:2461
Osteogenesis Imperfecta	Somatic sensory dysfunction, Noncommunicating hydrocephalus, Convex nasal ridge, Ventriculomegaly...	ORPHA:666
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Choanal stenosis, Hydrocephalus, Depressed nasal bridge, Upper airway obstruction, Choanal atresia	OMIM:207410
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Low-set ears, Hydrocephalus, Ventriculomegaly, Microtia	OMIM:613603
Monosomy 9Q22.3	Ventriculomegaly, Thickened ears, Hydrocephalus, Large for gestational age, Low-set ears	ORPHA:77301
Heterotaxy, Visceral, 1, X-Linked	Bilateral trilobed lung, Asplenia, Biliary atresia, Myelomeningocele, Aqueductal stenosis, Enlarg...	OMIM:306955
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Macrotia, Sensorineural hearing impairment, Aqueductal stenosis, Hydrocephalus, Failure to thrive...	OMIM:619512
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Anencephaly, Hydrocephalus, Pulmonary hypoplasia, Depressed nasal bridge, Micropenis	OMIM:616546
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Gaucher Disease, Type Iiic	Hydrocephalus, Splenomegaly, Pancytopenia, Hepatomegaly	OMIM:231005
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly	OMIM:616538
Tetrasomy 9P	Absent gallbladder, Pulmonary arterial hypertension, Biliary atresia, Convex nasal ridge, Arthrit...	ORPHA:3310
Opitz-Kaveggia Syndrome	Spasticity, Prominent nose, Short stature, Hydrocephalus, Hypospadias, Cryptorchidism, Choanal at...	OMIM:305450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Ventriculomegaly, Microtia, Hydrocephalus, Meningoencephalocele, Low-set ears, Occipital encephal...	OMIM:236670
Wilson Disease	Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Increased urinary copper...	OMIM:277900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Respiratory insufficiency, Exaggerated startle response, Encephalocele, Hydrocephalus, Holoprosen...	OMIM:253800
Ciliary Dyskinesia, Primary, 46	Bronchiectasis, Reduced sperm motility, Reduced forced vital capacity, Recurrent otitis media, Re...	OMIM:619436
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Mild proteinuria	OMIM:619685
Cockayne Syndrome B	Sensorineural hearing impairment, Normal pressure hydrocephalus, Small for gestational age, Abnor...	OMIM:133540
Kabuki Syndrome 1	Crossed fused renal ectopia, Hemolytic anemia, Lateral ventricle dilatation, Wide nasal bridge, R...	OMIM:147920
Biliary, Renal, Neurologic, And Skeletal Syndrome	Biliary cirrhosis, Lateral ventricle dilatation, Pulmonary artery dilatation, Hepatomegaly, Splen...	OMIM:619534
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Nephropathy, Proteinuria, Glomerular sclerosis	ORPHA:247691
Capillary Malformation-Arteriovenous Malformation	Neurogenic bladder, Hydrocephalus, Epistaxis, Chylothorax, Abnormality of the lymphatic system	ORPHA:137667
Martin-Probst Syndrome	Renal insufficiency, Micropenis, Proteinuria, Chordee	OMIM:300519
Shprintzen-Goldberg Craniosynostosis Syndrome	Conductive hearing impairment, Hydrocephalus, Abnormal pinna morphology, Low-set ears, Posteriorl...	OMIM:182212
Spondyloenchondrodysplasia	Proteinuria, Hematuria, Chronic kidney disease	ORPHA:1855
Congenital Disorder Of Glycosylation, Type Ia	Renal cyst, Proximal tubulopathy, Proteinuria, Nephrotic syndrome	OMIM:212065
45,X/46,Xy Mixed Gonadal Dysgenesis	Urogenital sinus anomaly, Short stature, Bilateral cryptorchidism, Azoospermia, Epispadias, Recur...	ORPHA:1772
Histiocytoid Cardiomyopathy	Pulmonary edema, Hydrocephalus, Hemiplegia, Renal cyst, Polycystic ovaries, Cough, Hepatomegaly, ...	ORPHA:137675
Hajdu-Cheney Syndrome	Conductive hearing impairment, Short stature, Hydrocephalus, Large earlobe, Failure to thrive, Lo...	OMIM:102500
Mycophenolate Mofetil Embryopathy	Anotia, Microtia, Hydrocephalus, Hearing impairment, Atresia of the external auditory canal	ORPHA:268249
Orofaciodigital Syndrome I	Pancreatic cysts, Underdeveloped nasal alae, Hepatic fibrosis, Myelomeningocele, Wide nasal bridg...	OMIM:311200
Glycogen Storage Disease Ib	Enlarged kidney, Decreased glomerular filtration rate, Proteinuria, Focal segmental glomeruloscle...	OMIM:232220
Wiedemann-Rautenstrauch Syndrome	Convex nasal ridge, Hypoplasia of the thymus, Narrow nasal ridge, Short stature, Recurrent respir...	OMIM:264090
Knobloch Syndrome	Vesicoureteral reflux, Bifid ureter, Hydrocephalus, Depressed nasal bridge, Occipital encephaloce...	ORPHA:1571
Holoprosencephaly 9	Single naris, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation tes...	OMIM:610829
Hemorrhagic Fever-Renal Syndrome	Tubulointerstitial nephritis, Anuria, Acute tubulointerstitial nephritis, Acute kidney injury, De...	ORPHA:340
Gaucher Disease Type 1	Proteinuria, Hematuria	ORPHA:77259
Congenital Bilateral Absence Of Vas Deferens	Oligospermia, Male infertility, Obstructive azoospermia	ORPHA:48
Wagro Syndrome	Nephroblastoma, Proteinuria	OMIM:612469
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Hydrocephalus, Encephalocele, Ventriculomegaly	OMIM:613150
Fraser Syndrome 1	Underdeveloped nasal alae, Wide nose, Choanal stenosis, Encephalocele, Myelomeningocele, Midline ...	OMIM:219000
Hellp Syndrome	Acute kidney injury, Hemoglobinuria, Proteinuria	ORPHA:244242
Galloway-Mowat Syndrome 1	Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Renal insufficiency, Focal segmenta...	OMIM:251300
Wiedemann-Rautenstrauch Syndrome	Dilatation of renal calices, Convex nasal ridge, Truncal ataxia, Hepatic steatosis, Action tremor...	ORPHA:3455
Wolf-Hirschhorn Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Ventriculomegaly, Short stature,...	OMIM:194190
Peters Plus Syndrome	Multicystic kidney dysplasia, Ventriculomegaly, Rhizomelia, Short stature, Anterior hypopituitari...	ORPHA:709
Lymphatic Filariasis	Nephrotic syndrome, Abnormality of the kidney, Hematuria, Glomerulonephritis, Proteinuria, Urethr...	ORPHA:2035
Campomelic Dysplasia	Tracheobronchomalacia, Spinal dysraphism, Depressed nasal ridge, Spina bifida, Hydrocephalus, Res...	OMIM:114290
Xfe Progeroid Syndrome	Renal insufficiency, Proteinuria	OMIM:610965
Fontaine Progeroid Syndrome	Respiratory insufficiency, Pulmonary arterial hypertension, Convex nasal ridge, Pneumothorax, Rec...	OMIM:612289
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Nephritis, Renal cyst, Proteinuria, Renal insufficiency, Chronic kidney disease	OMIM:208500
Exstrophy-Epispadias Complex	Vesicoureteral reflux, Female sexual dysfunction, Urinary incontinence, Bladder exstrophy, Absent...	ORPHA:322
Microphthalmia With Limb Anomalies	Short stature, Arrhinencephaly, Hydrocephalus, Large earlobe, Failure to thrive, Low-set, posteri...	ORPHA:1106
Myopathy With Lactic Acidosis, Hereditary	Myoglobinuria	OMIM:255125
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Lysinuric Protein Intolerance	Tubulointerstitial nephritis, Hyperlysinuria, Abnormal renal tubule morphology, Ornithinuria, Oro...	ORPHA:470
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Dicarboxylic aciduria	ORPHA:71212
Acrofacial Dysostosis 1, Nager Type	Conductive hearing impairment, Aqueductal stenosis, Short stature, Hydrocephalus, Low-set ears, P...	OMIM:154400
Cornelia De Lange Syndrome 1	Vesicoureteral reflux, Renal cyst, Reduced renal corticomedullary differentiation, Hypospadias, E...	OMIM:122470
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hemoglobinuria	OMIM:194380
Mitochondrial Trifunctional Protein Deficiency 1	Myoglobinuria	OMIM:609015
Cockayne Syndrome Type 1	Renal insufficiency, Proteinuria	ORPHA:90321
Agel Amyloidosis	Stage 5 chronic kidney disease, Proteinuria	ORPHA:85448
Paroxysmal Nocturnal Hemoglobinuria	Acute kidney injury, Hemoglobinuria, Glycosuria, Proteinuria, Hemosiderinuria, Renal insufficienc...	ORPHA:447
Glycogen Storage Disease Of Heart, Lethal Congenital	Pulmonary edema, Enlarged kidney, Hydrocephalus, Respiratory distress, Pleural effusion, Apnea	OMIM:261740
Imerslund-Gräsbeck Syndrome	Proteinuria	ORPHA:35858
Thoracoabdominal Syndrome	Anencephaly, Hydrocephalus, Pulmonary hypoplasia, Hypospadias	OMIM:313850
Glycogen Storage Disease Ic	Hematuria, Decreased glomerular filtration rate, Proteinuria, Renal insufficiency, Focal segmenta...	OMIM:232240
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Respiratory insufficiency, Prominent nose, Lateral ventricle dilatation, Polycystic kidney dyspla...	OMIM:210710
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Conductive hearing impairment, Macrotia, Short stature, Hypogonadism, Hydrocephalus, Calcificatio...	ORPHA:3042
Melas	Proximal tubulopathy, Proteinuria, Nephropathy, Focal segmental glomerulosclerosis	ORPHA:550
Costello Syndrome	Respiratory insufficiency, Lymphangiectasis, Pneumothorax, Ventriculomegaly, Short stature, Hydro...	OMIM:218040
Pseudoaminopterin Syndrome	Asplenia, Short stature, Hydrocephalus, Horseshoe kidney, Cryptorchidism, Prominent nasal bridge	ORPHA:221120
Sacral Defect With Anterior Meningocele	Meningocele, Myelomeningocele, Hydrocephalus, Myeloschisis, Dermal sinus tract	OMIM:600145
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Myoglobinuria	ORPHA:206549
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Myoglobinuria, Ketonuria	OMIM:616878
Lenz-Majewski Hyperostotic Dwarfism	Hypogonadism, Hydrocephalus, Choanal atresia, Epispadias, Severe short stature, Hypospadias, Cryp...	ORPHA:2658
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Neuroleptic Malignant Syndrome	Acute kidney injury, Urinary incontinence, Proteinuria, Myoglobinuria	ORPHA:94093
Gitelman Syndrome	Tubulointerstitial nephritis, Urinary incontinence, Renal tubular acidosis, Nocturia, Focal segme...	ORPHA:358
Neurofibromatosis, Type I	Parathyroid adenoma, Aqueductal stenosis, Short stature, Spina bifida, Hydrocephalus, Pheochromoc...	OMIM:162200
Microphthalmia With Linear Skin Defects Syndrome	Cleft earlobe, Hydrocephalus, Failure to thrive, Severe short stature, Growth delay, Abnormal ear...	ORPHA:2556
Immunoglobulin A Vasculitis	Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria	ORPHA:761
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Hemoglobinuria	OMIM:300908
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Myoglobinuria, Renal tubular acidosis	ORPHA:79240
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia	OMIM:277180
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Myoglobinuria, Renal tubular acidosis	ORPHA:370
Oculocerebrorenal Syndrome Of Lowe	Glomerulopathy, Aminoaciduria, Abnormal renal tubule morphology, Hematuria, Proximal renal tubula...	ORPHA:534
Fabry Disease	Glomerulopathy, Nephrotic syndrome, Abnormal renal tubule morphology, Hematuria, Nephropathy, Pro...	ORPHA:324
Yunis-Varon Syndrome	Short stature, Arrhinencephaly, Hydrocephalus, Severe failure to thrive, Abnormal pinna morpholog...	ORPHA:3472
Acquired Generalized Lipodystrophy	Proteinuria	ORPHA:79086
Cocaine Intoxication	Tubulointerstitial nephritis, Acute kidney injury, Hematuria, Glomerulonephritis, Proteinuria	ORPHA:90068
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Myoglobinuria, Renal tubular acidosis	ORPHA:264580
Full Nf2-Related Schwannomatosis	Hydrocephalus, Sensorineural hearing impairment, Myelopathy, Tinnitus	ORPHA:637
Noonan Syndrome 1	Hypogonadism, Short stature, Amegakaryocytic thrombocytopenia, Synovitis, Hypospadias, Male infer...	OMIM:163950
Peters-Plus Syndrome	Decreased body weight, Rhizomelia, Birth length less than 3rd percentile, Ventriculomegaly, Hydro...	OMIM:261540
Neurofibromatosis Type 1	Paresthesia, Short stature, Hydrocephalus, Ataxia, Pheochromocytoma, Delayed puberty, Cryptorchid...	ORPHA:636
Fetal Akinesia Deformation Sequence 1	Small for gestational age, Hydrocephalus, Low-set ears, Intrauterine growth retardation, Posterio...	OMIM:208150
Insulin-Resistance Syndrome Type B	Glycosuria, Proteinuria, Nephritis	ORPHA:2298
Familial Mediterranean Fever	Nephrocalcinosis, Nephropathy, Proteinuria, Nephrotic syndrome	ORPHA:342
Bardet-Biedl Syndrome 20	Proteinuria, Micropenis	OMIM:619471
Sturge-Weber Syndrome	Hydrocephalus	ORPHA:3205
Simpson-Golabi-Behmel Syndrome, Type 1	Wide nasal bridge, Enlarged kidney, Polysplenia, Hydrocephalus, Abnormal lung lobation, Supernume...	OMIM:312870
Basal Cell Nevus Syndrome 1	Wide nasal bridge, Spina bifida, Hydrocephalus, Ovarian carcinoma, Ovarian fibroma	OMIM:109400
Roberts-Sc Phocomelia Syndrome	Underdeveloped nasal alae, Wide nasal bridge, Narrow naris, Polycystic kidney dysplasia, Hydrocep...	OMIM:268300
Limb Body Wall Complex	Encephalocele, Myelomeningocele, Abnormality of the liver, Wide nasal bridge, Spina bifida, Anenc...	ORPHA:2369
Distal 22Q11.2 Microduplication Syndrome	Wide nose, Depressed nasal ridge, Hydrocephalus, Unilateral renal agenesis, Cryptorchidism, Bulbo...	ORPHA:261337
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Stage 5 chronic kidney disease, Enlarged kidney, Proteinuria, Nephrocalcinosis, Tubulointerstitia...	ORPHA:79259
Malignant Hyperthermia Of Anesthesia	Acute kidney injury, Myoglobinuria	ORPHA:423
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Hydrocephalus, Ventriculomegaly, Anteverted nares	ORPHA:457284
Chromosome 1P36 Deletion Syndrome, Distal	Conductive hearing impairment, Sensorineural hearing impairment, Lateral ventricle dilatation, Mi...	OMIM:607872
Granulomatosis With Polyangiitis	Glomerulopathy, Hematuria, Ureteral stenosis, Proteinuria, Renal insufficiency, Hydronephrosis	ORPHA:900
Pierson Syndrome	Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Hyp...	OMIM:609049
Tubulointerstitial Nephritis And Uveitis Syndrome	Tubulointerstitial nephritis, Aminoaciduria, Renal Fanconi syndrome, Beta 2-microglobulinuria, Re...	ORPHA:91500
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Stage 5 chronic kidney disease, Hyperphosphaturia, Proximal renal tubular acidosis...	OMIM:309000
Split Cord Malformation	Meningocele, Urinary incontinence, Myelomeningocele, Detrusor sphincter dyssynergia, Neurogenic b...	ORPHA:573278
Gaucher Disease Type 3	Proteinuria, Hematuria	ORPHA:77261
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal tubular atrophy, Nephrotic syndrome, Decreased glomerular filtration rate, Proteinuria, Ren...	OMIM:614748
Coffin-Siris Syndrome 12	Noncommunicating hydrocephalus, Sensorineural hearing impairment, Short stature, Overfolding of t...	OMIM:619325
Otopalatodigital Syndrome, Type Ii	Respiratory insufficiency, Short stature, Spina bifida, Hydrocephalus, Hypospadias, Depressed nas...	OMIM:304120
Oeis Complex	Myelomeningocele, Vesicovaginal fistula, Hydroureter, Hydrocephalus, Epispadias, Pelvic kidney, C...	OMIM:258040
Cockayne Syndrome	Urinary incontinence, Nephrotic syndrome, Neurogenic bladder, Unilateral renal agenesis, Abnormal...	ORPHA:191
Baller-Gerold Syndrome	Conductive hearing impairment, Short stature, Hydrocephalus, Spina bifida occulta, Severe short s...	OMIM:218600
Goodpasture Syndrome	Glomerular crescent formation, Cylindruria, Glomerulonephritis, Erythrocyte cylindruria, Macrosco...	OMIM:233450
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis	ORPHA:2750
Focal Dermal Hypoplasia	Myelomeningocele, Bifid ureter, Short stature, Cleft ala nasi, Hydrocephalus, Supernumerary nippl...	OMIM:305600
Relapsing Polychondritis	Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria	ORPHA:728
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Hemoglobinuria, Anuria	ORPHA:90038
Townes-Brocks Syndrome 1	Macrotia, Sensorineural hearing impairment, Satyr ear, Microtia, Small for gestational age, Overf...	OMIM:107480
Postinfectious Vasculitis	Glomerulonephritis, Proteinuria, Hematuria, Membranoproliferative glomerulonephritis	ORPHA:48435
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Lower limb dysmetria, Short stature, Hydrocephalus, Sinusitis, Hydronephrosis	ORPHA:363700
Glycogen Storage Disease Xii	Hemoglobinuria	OMIM:611881
Infection-Related Hemolytic Uremic Syndrome	Nephrotic range proteinuria, Anuria, Acute kidney injury, Decreased urine output, Oliguria	ORPHA:544482
Williams Syndrome	Vesicoureteral reflux, Renal duplication, Recurrent urinary tract infections, Hypoplasia of penis...	ORPHA:904
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Spasticity, Short nasal bridge, Ventriculomegaly, Myoclonus, Hydrocephalus	OMIM:253280
Kawasaki Disease	Sterile pyuria, Proteinuria	ORPHA:2331
Loeys-Dietz Syndrome 1	Hydrocephalus, Eosinophilic infiltration of the esophagus	OMIM:609192
Mandibuloacral Dysplasia Progeroid Syndrome	Proteinuria, Focal segmental glomerulosclerosis	OMIM:619127
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Spasticity, Hemolytic anemia, Hemiparesis, Hydrocephalus, Hemiplegia, Babinski sign, Tetraparesis...	OMIM:175780
Crimean-Congo Hemorrhagic Fever	Proteinuria, Hematuria	ORPHA:99827
Loeys-Dietz Syndrome 2	Hydrocephalus, Eosinophilic infiltration of the esophagus	OMIM:610168
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria	OMIM:616682
Tuberous Sclerosis Complex	Subependymal nodules, Noncommunicating hydrocephalus	ORPHA:805
Craniofacial Microsomia	Conductive hearing impairment, Sensorineural hearing impairment, Anotia, Microtia, Underdeveloped...	OMIM:164210
Pmm2-Cdg	Abnormal renal tubule morphology, Proteinuria, Multiple renal cysts, Nephrotic syndrome	ORPHA:79318

Histopathology

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

There is no histopathology data for Stk36

IMPC related publications

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

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

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MGI Allele	Allele Type	Produced
Stk36^em1(IMPC)J	Indel	Mice
Stk36^{tm380652(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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Gene: Stk36 MGI:1920831

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

Eye Morphology

Eye Morphology

Auditory Brain Stem Response

Electroretinography 2

Human diseases caused by Stk36 mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data