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Gene: Stk36 MGI:1920831

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images 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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PDF thumbnail PDF
Auditory Brain Stem Response

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

7 Images

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Electroretinography 2

Rod and cone PDF

4 Images

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Human diseases caused by Stk36 mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Primary Ciliary Dyskinesia
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 Similarity of
phenotypes		 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