Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
abnormal sinus arrhythmia Stk36em1(IMPC)J HET Early adult 2.66×10-05
increased prepulse inhibition Stk36em1(IMPC)J HET Early adult 4.10×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Forepaw

9 Images

Eye Morphology

Images Slit Lamp

1 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Auditory Brain Stem Response

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

7 Images

Electroretinography 2

Rod and cone PDF

4 Images

Human diseases caused by Stk36 mutations

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

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

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

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
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Albumi... OMIM:620536
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Glomerulopathy With Fibronectin Deposits 2
Glomerular fibronectin deposits, Hypertension, Nephrotic syndrome, Microscopic hematuria, Protein... OMIM:601894
Iga Nephropathy, Susceptibility To, 3
Hematuria, Hypertension, Proteinuria, Mesangial hypercellularity, IgA deposition in the glomerulu... OMIM:616818
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Male infertility, Atelectasis, Recurrent bronchitis, Anosmia, Chronic rhini... OMIM:244400
Imerslund-Grasbeck Syndrome 2
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Moderate albuminuria OMIM:618882
Nail-Patella-Like Renal Disease
Glomerulopathy, Hypertension, Microscopic hematuria, Proteinuria, Renal insufficiency ORPHA:2613
Glomerulopathy With Fibronectin Deposits 1
Glomerular fibronectin deposits, Glomerulopathy, Hypertension, Nephropathy, Nephrotic syndrome, M... OMIM:137950
Focal Segmental Glomerulosclerosis 2
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney... OMIM:603965
Iga Nephropathy, Susceptibility To, 2
Hematuria, Hypertension, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chroni... OMIM:613944
Focal Segmental Glomerulosclerosis 5
Hypertension, Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chr... OMIM:613237
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Chronic rhinitis, Recurrent sinusitis, R... OMIM:620438
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Hypertension, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency OMIM:607832
Renal Failure, Progressive, With Hypertension
Hypertension, Microscopic hematuria, Nephritis, Proteinuria, Stage 5 chronic kidney disease, Rena... OMIM:161900
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Nephrotic Syndrome, Type 16
Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta... OMIM:618178
Nephrotic Syndrome, Type 20
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:301028
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:616032
Premature Ovarian Failure 2B
Delayed puberty, Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Ciliary Dyskinesia, Primary, 25
Recurrent otitis media, Infertility, Chronic rhinitis, Recurrent pneumonia, Recurrent sinusitis, ... OMIM:615482
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Ciliary Dyskinesia, Primary, 9
Chronic otitis media, Pneumonia, Recurrent otitis media, Male infertility, Chronic rhinitis, Recu... OMIM:612444
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria OMIM:614199
Primary Ciliary Dyskinesia
Chronic otitis media, Male infertility, Recurrent otitis media, Atelectasis, Pulmonary situs ambi... ORPHA:244
Ciliary Dyskinesia, Primary, 26
Recurrent otitis media, Infertility, Rhinitis, Recurrent sinusitis, Reduced sperm motility, Bronc... OMIM:615500
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Steroid-resistant nephrot... OMIM:618176
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Recurrent respiratory infections, Male infertility, Chronic rhinitis OMIM:618801
Thoracic Dysplasia-Hydrocephalus Syndrome
Short stature, Ataxia, Depressed nasal ridge, Communicating hydrocephalus ORPHA:1861
Ciliary Dyskinesia, Primary, 11
Chronic rhinitis, Short stature, Recurrent sinusitis, Reduced sperm motility, Bronchiectasis, Rec... OMIM:612649
Iga Nephropathy, Susceptibility To, 1
Hematuria, Hypertension, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chroni... OMIM:161950
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Short stature, Rhinitis, Splenomegaly, Abnormal pyramid... ORPHA:93476
Ciliary Dyskinesia, Primary, 18
Male infertility, Recurrent otitis media, Rhinitis, Recurrent sinusitis, Abdominal situs ambiguus... OMIM:614874
Ciliary Dyskinesia, Primary, 33
Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Recurrent bron... OMIM:616726
Focal Segmental Glomerulosclerosis 10
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron... OMIM:256020
Primary Membranoproliferative Glomerulonephritis
Acute kidney injury, Glomerular subendothelial electron-dense deposits, Hypertension, Nephrotic s... ORPHA:54370
Nephrotic Syndrome, Type 23
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa... OMIM:619201
Ciliary Dyskinesia, Primary, 34
Male infertility, Recurrent bronchitis, Chronic rhinitis, Recurrent sinusitis, Bronchiectasis, Im... OMIM:617091
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Ciliary Dyskinesia, Primary, 12
Chronic otitis media, Chronic rhinitis, Short stature, Reduced sperm motility, Bronchiectasis, Re... OMIM:612650
Felty Syndrome
Chronic otitis media, Hepatomegaly, Anemia, Lymphadenopathy, Recurrent pharyngitis, Pleuritis, Ar... ORPHA:47612
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:615504
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Ciliary Dyskinesia, Primary, 19
Male infertility, Recurrent otitis media, Nasal polyposis, Rhinitis, Recurrent sinusitis, Bronchi... OMIM:614935
Ciliary Dyskinesia, Primary, 24
Recurrent otitis media, Infertility, Chronic rhinitis, Recurrent sinusitis, Bronchiectasis OMIM:615481
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension, Nephropathy, Proteinuria ORPHA:2820
Preeclampsia/Eclampsia 1
Hypertension, Proteinuria OMIM:189800
Ciliary Dyskinesia, Primary, 23
Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasi... OMIM:615451
Immunodeficiency 102
Hepatomegaly, Anemia, Recurrent lower respiratory tract infections, B lymphocytopenia, Neutropeni... OMIM:301082
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Proteus-Like Syndrome
Bronchogenic cyst, Hydrocephalus, Anteverted nares, Communicating hydrocephalus, Splenomegaly, Th... ORPHA:2969
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
B lymphocytopenia, Atopic dermatitis, Sinusitis, Rhinitis, Recurrent upper and lower respiratory ... ORPHA:70593
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney d... OMIM:617609
Ciliary Dyskinesia, Primary, 22
Recurrent otitis media, Infertility, Nasal polyposis, Rhinitis, Recurrent sinusitis, Reduced sper... OMIM:615444
Ciliary Dyskinesia, Primary, 38
Chronic otitis media, Infertility, Rhinitis, Bronchiectasis, Chronic sinusitis OMIM:618063
Hereditary Cryohydrocytosis With Reduced Stomatin
Postnatal growth retardation, Hypertonia, Jaundice, Spontaneous hemolytic crises, Communicating h... ORPHA:168577
Icf Syndrome
Anemia, Communicating hydrocephalus, Short stature, Lymphopenia, Recurrent respiratory infections... ORPHA:2268
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Communicating hydrocephalus, Growth delay, Side... OMIM:616084
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:615505
Ciliary Dyskinesia, Primary, 32
Recurrent otitis media, Infertility, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infe... OMIM:616481
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Hypertension, Nephrotic syndrome, Micro... ORPHA:84090
Ciliary Dyskinesia, Primary, 43
Abdominal situs inversus, Recurrent lower respiratory tract infections, Chronic rhinitis, Noncomm... OMIM:618699
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle OMIM:619009
Hyperprolactinemia
Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Hydrocephaly-Low Insertion Umbilicus Syndrome
Long nose, Anomalous pulmonary venous return, Wide nose, Communicating hydrocephalus ORPHA:2184
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Recurrent otitis media, Microcephalic sperm head, Absent ... OMIM:301101
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... OMIM:614131
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Bulbous nose, Thrombocytopenia, Cryptorchidism, Wide nasal bridge ORPHA:1237
Glutaryl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Subependymal nodules, Chorea, Tremor, Athetosis, Poor motor coordination, Comm... ORPHA:25
Pineocytoma
Hydrocephalus, Increased CSF protein concentration, Difficulty walking, Episodic ataxia ORPHA:251912
Ciliary Dyskinesia, Primary, 5
Recurrent otitis media, Nasal polyposis, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumon... OMIM:608647
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis, Anteverted nares, Communicating hydrocephalus, Short stature, Depresse... ORPHA:1064
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Arthritis, T lymphocytopenia, Purulent rhinitis, Otitis media, Conjunctivitis,... OMIM:601457
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Ciliary Dyskinesia, Primary, 35
Chronic otitis media, Nasal polyposis, Chronic rhinitis, Recurrent pneumonia, Bronchiectasis, Abd... OMIM:617092
Yellow Nail Syndrome
Hypoplasia of lymphatic vessels, Pleuritis, Neoplasm of the lung, Sinusitis, Rhinitis, Biliary tr... ORPHA:662
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Rhinitis, Le... ORPHA:507
Isolated Permanent Neonatal Diabetes Mellitus
Renal tubular dysfunction, Abnormality of the upper urinary tract, Hypovolemia, Glycosuria, Keton... ORPHA:99885
Ciliary Dyskinesia, Primary, 37
Bronchiectasis, Goiter, Female infertility, Chronic rhinitis OMIM:617577
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Recurrent aphthous stomatitis, Periodontitis, Acute lymp... ORPHA:486
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Acute otitis media, Sclerosing cholangitis, Pancytopenia, Recurrent ... ORPHA:572
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... OMIM:615008
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Ciliary Dyskinesia, Primary, 42
Pneumonia, Nasal polyposis, Chronic rhinitis, Recurrent sinusitis, Bronchiectasis OMIM:618695
Papilloma Of Choroid Plexus
Hydrocephalus, Hemiplegia/hemiparesis, Hypertonia, Choroid plexus papilloma ORPHA:2807
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Splenic cyst, Anteverted nares, Communicating hydroce... OMIM:618188
Biemond Syndrome Type 2
Delayed puberty, Hydrocephalus, Short stature, Obesity, Hypogonadism, Hypogonadotropic hypogonadism ORPHA:141333
Denys-Drash Syndrome
Hypertension, Nephrotic syndrome, Proteinuria, Nephroblastoma, Nephropathy ORPHA:220
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis, Allergic rhinitis, Conjunctivitis ORPHA:26137
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Chron... OMIM:614679
Nephrotic Syndrome, Type 9
Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephroti... OMIM:615573
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Tremor, Gait disturbance, Kinetic tremor, Ventriculomegaly OMIM:611808
Ciliary Dyskinesia, Primary, 16
Chronic otitis media, Chronic sinusitis, Chronic rhinitis, Bronchiectasis OMIM:614017
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Familial Nasal Acilia
Atelectasis, Chronic rhinitis, Recurrent upper respiratory tract infections, Bronchiectasis, Chro... ORPHA:922
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Hemiplegia/hemiparesis, Ataxia, Cerebral palsy ORPHA:99966
Congenital Syphilis
Myocarditis, Anemia, Lymphadenopathy, Pancreatitis, Maculopapular exanthema, Hydrocephalus, CSF p... ORPHA:499009
Eosinophilopenia
Allergic rhinitis, Decreased eosinophil count OMIM:131430
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Adenine Phosphoribosyltransferase Deficiency
Acute kidney injury, Atrial fibrillation, Recurrent urinary tract infections, Hypertension, Uric ... ORPHA:976
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Scheie Syndrome
Hepatomegaly, Cerebral palsy, Mucopolysacchariduria, Rhinitis, Splenomegaly, Spastic paraparesis ORPHA:93474
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Hurler Syndrome
Hepatomegaly, Recurrent respiratory infections, Hydrocephalus, Anteverted nares, Abnormality of t... ORPHA:93473
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Pulmonary pneumatocele, Recurrent otitis media, Sclerosing cholangitis, Cutaneous abscess, Atopic... OMIM:243700
Ciliary Dyskinesia, Primary, 40
Chronic sinusitis, Infertility, Chronic rhinitis, Azoospermia OMIM:618300
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Rhizomelia OMIM:166990
Galactosemia I
Increased level of galactitol in urine, Albuminuria, Aminoaciduria, Galactosuria OMIM:230400
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:600995
H Syndrome
Delayed puberty, Enlarged kidney, Lymphadenopathy, Recurrent pharyngitis, Azoospermia, Hydrocepha... ORPHA:168569
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Anemia, Pancytopenia, Hydrocephalus, Thrombocytopeni... OMIM:259710
Edinburgh Malformation Syndrome
Hydrocephalus, Failure to thrive OMIM:129850
Amyloidosis, Familial Visceral
Hematuria, Hypertension, Nephrotic syndrome, Proteinuria, Renal amyloidosis, Nephropathy OMIM:105200
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Failure to thrive, Skin rash ORPHA:26
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly, Severe sensorineural hearing impairment OMIM:604213
Ciliary Dyskinesia, Primary, 7
Bronchiectasis, Recurrent pneumonia, Recurrent otitis media, Chronic rhinitis OMIM:611884
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Hydrocephalus, Communicating hydrocephalus, Colpocephaly, Ventriculomegaly, Bulbous nose OMIM:615219
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus, Hearing impairment, Periodontitis ORPHA:1008
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Glomerular C3 deposition, Hypertension, Abnormal glomerular mesangium morpho... ORPHA:567544
Cole-Carpenter Syndrome 1
Short stature, Hydrocephalus, Communicating hydrocephalus OMIM:112240
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop... ORPHA:3286
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Carboxypeptidase N Deficiency
Allergic rhinitis OMIM:212070
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly, Ataxia OMIM:618709
Bloom Syndrome
Cheilitis, Premature ovarian insufficiency, Male infertility, Acute myeloid leukemia, Recurrent t... ORPHA:125
Silver-Russell Syndrome Due To 11P15 Microduplication
Postnatal growth retardation, Severe intrauterine growth retardation, Short stature, Failure to t... ORPHA:231144
Dermatitis, Atopic
Atopic dermatitis, Eczematoid dermatitis, Conjunctivitis, Recurrent skin infections, Allergic rhi... OMIM:603165
Spermatogenic Failure 17
Male infertility OMIM:617214
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Hydrocephalus, Spasticity, CSF lymphocytic pleiocytosis, Thrombocytop... OMIM:610333
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Beemer Lethal Malformation Syndrome
Hydrocephalus, Thrombocytopenia, Wide nasal bridge OMIM:209970
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, T lymphocytopenia, Bone marro... ORPHA:443811
Coenzyme Q10 Deficiency, Primary, 6
Nephrolithiasis, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Proteinuria, St... OMIM:614650
Alpha-Mannosidosis, Infantile Form
Pancytopenia, Clumsiness, Communicating hydrocephalus, Spastic paraplegia, Hepatosplenomegaly, At... ORPHA:309282
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele ORPHA:2119
Premature Ovarian Failure 22
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility OMIM:620548
Thakker-Donnai Syndrome
Anteverted nares, Communicating hydrocephalus, Hydronephrosis, Intrauterine growth retardation, B... ORPHA:1780
Microsporidiosis
Bronchitis, Sinusitis, Biliary tract abnormality, Myocarditis, Cholangitis, Thyroiditis, Bronchio... ORPHA:2552
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Nephrotic syndrome, Proteinuria, Podocyte foot process effacement OMIM:617006
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Nasal polyposis, Immotile sperm, Chronic rhinitis OMIM:242670
Cole-Carpenter Syndrome
Intrauterine growth retardation, Short stature, Communicating hydrocephalus ORPHA:2050
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria OMIM:619269
Masa Syndrome
Lower limb spasticity, Paraplegia, Hydrocephalus, Shuffling gait, Spastic paraplegia, Short statu... OMIM:303350
Al Amyloidosis
Abnormality of the kidney, Gastrointestinal hemorrhage, Renal interstitial amyloid deposits, Hype... ORPHA:85443
Netherton Syndrome
Chronic rhinitis, Eczematoid dermatitis, Recurrent skin infections, Erythroderma, Hypereosinophil... OMIM:256500
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Proteinuria ORPHA:2134
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni... OMIM:614817
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Biemond Syndrome Ii
Hydrocephalus, Short stature OMIM:210350
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... OMIM:614196
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Renal hyp... OMIM:611555
Gómez-López-Hernández Syndrome
Impaired pain sensation, Anteverted nares, Hydrocephalus, Short stature, Ataxia ORPHA:1532
Ige Responsiveness, Atopic
Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Diencephalic Syndrome
Hydrocephalus, Cachexia, Decreased body weight, Macrotia ORPHA:1672
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Reduced pr... OMIM:620356
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Ventricular fibrillation, Tachycardia OMIM:603829
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis,... OMIM:610725
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Skin rash, Anemia of inadequate production, Exocrine pancreatic insuffici... OMIM:612714
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Nephrotic syndrome, Hematuria, Proteinuria, Membranoproliferative glomerulonephritis OMIM:613913
Cryoglobulinemia, Familial Mixed
Hematuria, Hypertension, Abnormal renal physiology, Proteinuria, Chronic kidney disease OMIM:123550
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Crohn's disease, Decreased proportion of transition... ORPHA:331235
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Inability to walk by childhood/adolescence, Babinski sign, Steppage gait, Distal sensory impairme... ORPHA:99947
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Sensorineural hearing impairment, Short stature, Failure to thri... OMIM:619518
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Episodic hypertension, Elevated urinary norepinephrine level, Cerebral ... OMIM:171420
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism, Short stature, Obesity ORPHA:2183
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchitis, Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Re... ORPHA:183675
Focal Segmental Glomerulosclerosis 1
Hypertension, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Proteinuria, Reduced re... OMIM:603278
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Immunodeficiency 58
Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic mucocutaneous... OMIM:618131
Chilton-Okur-Chung Neurodevelopmental Syndrome
Recurrent otitis media, Hypospadias, Limb hypertonia, Low hanging columella, Anteverted nares, An... OMIM:619841
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Nephrotic syndrome, Proteinuria ORPHA:839
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Hematuria, Proteinuria, Arrhythmia, Renal insufficiency, Myocardial infarction ORPHA:54057
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hypertonia, Inability to walk, Hydrocephalus, Short stature, Pulmonary hypoplasia, Ataxia, Spasti... OMIM:618174
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Atrial flutter, Left bund... ORPHA:439232
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Hypertension, Focal segmental glomerulosclerosis, Microscopic ... ORPHA:567546
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Immunodeficiency 23
Cortical myoclonus, Chronic mucocutaneous candidiasis, Myoclonus, Hemolytic anemia, Eczematoid de... OMIM:615816
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Lobar holo... OMIM:609637
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Lujo Hemorrhagic Fever
Myocarditis, Atelectasis, Resting tremor, Skin rash, Fulminant hepatitis, Leukocytosis, Microscop... ORPHA:319213
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
1Q21.1 Microduplication Syndrome
Hydrocephalus, Failure to thrive ORPHA:250994
Alexander Disease
Babinski sign, Hydrocephalus, Spasticity, Increased CSF protein concentration, Ataxia, Dysmetria,... OMIM:203450
C3 Glomerulopathy
Acute kidney injury, Hematuria, Hypertension, Nephrotic syndrome, Proteinuria, Mesangial hypercel... ORPHA:329918
Developmental And Epileptic Encephalopathy 36
Hepatomegaly, Abnormality of extrapyramidal motor function, Anteverted nares, Hydrocephalus, Abno... OMIM:300884
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Nephrotic Syndrome, Type 22
Glomerular sclerosis, Nephrotic range proteinuria, Podocyte foot process effacement, Nephrotic sy... OMIM:619155
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Mucopolysaccharidosis Type 2
Hepatomegaly, Hip osteoarthritis, Wide nose, Communicating hydrocephalus, Short stature, Growth d... ORPHA:580
Dandy-Walker Syndrome
Hydrocephalus, Truncal ataxia, Dilated fourth ventricle OMIM:220200
Ciliary Dyskinesia, Primary, 36, X-Linked
Chronic otitis media, Male infertility, Nasal congestion, Recurrent sinusitis, Bronchiectasis, Re... OMIM:300991
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Shprintzen-Goldberg Syndrome
Anteverted nares, Ventriculomegaly, Cryptorchidism, Communicating hydrocephalus ORPHA:2462
Paroxysmal Hemicrania
Rhinitis, Focal sensory seizure with olfactory features ORPHA:157835
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Alport Syndrome 2, Autosomal Recessive
Hematuria, Hypertension, Nephrotic syndrome, Thickened glomerular basement membrane, Nephritis, P... OMIM:203780
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Fried Syndrome
Hydrocephalus, Macrotia, Hearing impairment ORPHA:85335
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Systemic Sclerosis
Myocarditis, Abnormality of the kidney, Nail bed telangiectasia, Acute kidney injury, Gastrointes... ORPHA:90291
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation, Spasticity, Commu... OMIM:615287
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Female infertility, Primary amenorrhea, St... OMIM:612310
Premature Ovarian Failure 13
Oligomenorrhea, Amenorrhea, Female infertility OMIM:617442
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Ventriculomegaly, Prominent nasal bridge, Communicating hydrocephalus, Gait ataxia OMIM:617011
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Congenital Toxoplasmosis
Hydrocephalus, Hearing impairment, Failure to thrive in infancy, Intrauterine growth retardation,... ORPHA:858
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Hematuria, Proteinuria, Membranoproliferative glomerulonephritis OMIM:608709
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Congenital Disorder Of Glycosylation, Type Iiw
Membranoproliferative glomerulonephritis, Microscopic hematuria, Moderate albuminuria OMIM:619525
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Difficulty walking, Gait ataxia, Communicating hydrocephalus, Prominent nasal bridge, Ventriculom... ORPHA:457359
Pontocerebellar Hypoplasia, Type 15
Hypertonia, Anemia, Hydrocephalus, Chronic neutropenia, Thrombocytopenia, Spastic tetraplegia OMIM:619302
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Ring Chromosome Y Syndrome
Male infertility, Male hypogonadism, Azoospermia, Abnormal spermatogenesis, Short stature, Obesit... ORPHA:261529
Familial Cold Autoinflammatory Syndrome 3
Hashimoto thyroiditis, Recurrent otitis media, Recurrent sinopulmonary infections, Allergic rhinitis OMIM:614468
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Wild Type Attr Amyloidosis
Congestive heart failure, Bradycardia, Atrial fibrillation, Renal insufficiency, Hypertrophic car... ORPHA:330001
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Mild proteinuria, Glomerular subepithelial immune-complex... OMIM:614377
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Hypertension, Glycosuria, Proteinuria, Stage 5 chronic kidney diseas... OMIM:618913
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Abdominal obesity, Truncal obesity, Short stature OMIM:618160
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Renal cortical... OMIM:220150
Ciliary Dyskinesia, Primary, 14
Male infertility, Polysplenia, Recurrent pneumonia, Reduced sperm motility, Otitis media, Bronchi... OMIM:613807
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... OMIM:618349
Alg12-Cdg
Recurrent pharyngitis, Wide nose, Hypospadias, B lymphocytopenia, Chronic rhinitis, Recurrent pne... ORPHA:79324
Pontocerebellar Hypoplasia, Type 14
Hypertonia, Hydrocephalus, Chronic neutropenia, Thrombocytopenia, Spastic tetraplegia OMIM:619301
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
2,4-Dienoyl-Coa Reductase Deficiency
Increased CSF lysine concentration, Hydrocephalus, Incoordination, Tetraplegia, Spasticity, Incre... OMIM:616034
Chronic Actinic Dermatitis
Erythroderma, Late onset atopic dermatitis, Allergic rhinitis, Eczematoid dermatitis ORPHA:330064
Temple Syndrome
Postnatal growth retardation, Hydrocephalus, Short stature, Obesity, Small for gestational age ORPHA:254516
Isochromosomy Yp
Decreased testicular size, Male infertility, Azoospermia ORPHA:98797
Classic Galactosemia
Delayed puberty, Premature ovarian insufficiency, Jaundice, Hepatomegaly, Gait imbalance, Male in... ORPHA:79239
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Protruding ear, Small for gestational age OMIM:618302
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Congenital Hydrocephalus
Hydrocephalus, Sensorineural hearing impairment, Colpocephaly, Posteriorly rotated ears, Ventricu... ORPHA:2185
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Tremor, Spastic tetraparesis, Broad-based gait OMIM:619470
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Anemia, Lymphadenopathy, Hydrocephalus, Tremor, Chronic rhinitis, Pulmonary artery ... ORPHA:667
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ventriculomegaly OMIM:617967
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Acute kidney injury, Renal tubular epithelial necrosis, Hematuria, Dysuria, Abnormal penis morpho... ORPHA:95455
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Proteinuria, Sta... OMIM:612925
Kleeblattschaedel
Hydrocephalus OMIM:148800
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Hematuria, Vasculitis, Proteinuria, Renal insufficiency ORPHA:375
Cednik Syndrome
Nephrotic syndrome, Congestive heart failure, Proteinuria ORPHA:66631
Dent Disease 2
Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Nephrocalcinosis, Chronic... OMIM:300555
Degcags Syndrome
Abnormal spleen morphology, Cholestasis, Leukopenia, Intrauterine growth retardation, Congenital ... OMIM:619488
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Proteinuria OMIM:612924
Dopamine Beta-Hydroxylase Deficiency
Retrograde ejaculation, Anemia, Elevated urinary dopamine level, Rhinitis, Nocturia ORPHA:230
Temple Syndrome
Recurrent otitis media, Hydrocephalus, Short stature, Obesity, Posteriorly rotated ears, Intraute... OMIM:616222
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Renal insufficiency, Aminoaciduria OMIM:615605
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Acquired Partial Lipodystrophy
Microscopic hematuria, Glomerulopathy, Proteinuria ORPHA:79087
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Bardet-Biedl Syndrome
Hypoplasia of penis, Hypoplasia of the ovary, Ataxia, Multiple renal cysts, Hypogonadism, Hepatic... ORPHA:110
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Encephalocele, Hydrocephalus, Spasticity, Short stature,... ORPHA:381
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Proteinuria OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Proteinuria OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Proteinuria OMIM:612926
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Fanconi Renotubular Syndrome 2
Decreased glomerular filtration rate, Renal phosphate wasting, Generalized aminoaciduria, Hyperca... OMIM:613388
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Hypoplastic nipples, Absent nipple, Rhinitis, Recurrent respiratory infections, Depressed nasal b... OMIM:614941
Mirage Syndrome
Anemia, Hypospadias, Paraplegia, Hydrocephalus, Aspiration pneumonia, Microphallus, Decreased tes... OMIM:617053
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... ORPHA:94088
Myh9-Related Disease
Renal insufficiency, Spontaneous, recurrent epistaxis, Nephritis, Proteinuria, Nephropathy, Myoca... ORPHA:182050
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Hypertension, Renal cyst, Pulmonic stenosis, Renal hypoplasia,... OMIM:610205
Aa Amyloidosis
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hypotension, Nephrotic syndrome,... ORPHA:85445
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Frasier Syndrome
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:136680
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:614455
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Diffu... OMIM:615244
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hydronephrosis... OMIM:613496
Williams-Beuren Region Duplication Syndrome
Chronic otitis media, Hydrocephalus, Overfolded helix, Short stature, Failure to thrive, Ventricu... OMIM:609757
Eosinophilic Gastroenteritis
Anemia, Leukocytosis, Atopic dermatitis, Eosinophilia, Allergic rhinitis ORPHA:2070
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Igg4-Related Kidney Disease
Acute kidney injury, Enlarged kidney, Urethritis, Renal interstitial immunoglobulin deposits, Hem... ORPHA:449395
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration, Difficulty walking, Episodic ataxia ORPHA:251915
Central Neurocytoma
Babinski sign, Abnormal lateral ventricle morphology, Hydrocephalus, Ataxia, Pain insensitivity, ... ORPHA:73256
Glycogen Storage Disease V
Myoglobinuria, Failure to elevate ammonia on ischemic exercise, Dark urine OMIM:232600
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Hypertension, Nephropathy, Proteinuria ORPHA:1192
Pheochromocytoma
Congestive heart failure, Episodic hypertension, Renal artery stenosis, Elevated urinary norepine... OMIM:171300
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Hypertrophic cardio... ORPHA:368
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Isochromosomy Yq
Decreased testicular size, Male infertility, Azoospermia ORPHA:98798
Fanconi Renotubular Syndrome 1
Low-molecular-weight proteinuria, Renal tubular dysfunction, Glycosuria, Hyperphosphaturia, Impai... OMIM:134600
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Myoglobinuria, Hypotension OMIM:145600
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2668
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Obesity, Hypogonadism OMIM:601794
Galloway-Mowat Syndrome 5
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta... OMIM:617731
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Sporadic Pheochromocytoma/Secreting Paraganglioma
Congestive heart failure, Hematuria, Glomerular sclerosis, Hypertension associated with pheochrom... ORPHA:276621
Alexander Disease Type I
Hydrocephalus, Cachexia, Failure to thrive ORPHA:363717
Alport Syndrome 3A, Autosomal Dominant
Hematuria, Hypertension, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement... OMIM:104200
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Low-set ears, Short stature ORPHA:1516
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Allergic rhinitis ORPHA:90368
Preeclampsia
Acute kidney injury, Abnormality of the kidney, Elevated diastolic blood pressure, Elevated systo... ORPHA:275555
Ichthyosis Prematurity Syndrome
Erythroderma, Allergic rhinitis OMIM:608649
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Hepatomegaly, Oculomotor apraxia, Hydrocephalus, Cholestasis, Short stature, Sp... OMIM:615630
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension, Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insuffi... OMIM:166300
Microphthalmia, Syndromic 9
Multilobulated spleen, Horseshoe kidney, Bilateral lung agenesis, Alveolar capillary dysplasia, P... OMIM:601186
Spinocerebellar Ataxia Type 32
Male infertility, Progressive cerebellar ataxia, Testicular atrophy, Azoospermia ORPHA:276183
Palmoplantar Carcinoma, Multiple Self-Healing
Chronic rhinitis OMIM:615225
6P22 Microdeletion Syndrome
Hydrocephalus, Hearing impairment, Low-set ears, Overfolded helix ORPHA:251046
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Pallister-Hall-Like Syndrome
Short nose, Occipital encephalocele, Anterior hypopituitarism, Hydrocephalus, Short stature, Pulm... OMIM:241800
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Short nose, Hypertonia, Hypospadias, Hydrocephalus, Anteverted nares, Spastic tetraparesis, Renal... ORPHA:171839
Galloway-Mowat Syndrome 2, X-Linked
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Protei... OMIM:301006
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Renal cortical microcysts, Hydronephrosis, Albuminuria, Aminoaciduria OMIM:214100
Nephrotic Syndrome, Type 11
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ... OMIM:616730
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Whipple Disease
Myocarditis, Hepatomegaly, Anemia, Mediastinal lymphadenopathy, Erectile dysfunction, Pleuritis, ... ORPHA:3452
Idiopathic Steroid-Resistant Nephrotic Syndrome
Acute kidney injury, Minimal change glomerulonephritis, Abnormal glomerular visceral epithelial c... ORPHA:567548
Multiple Sulfatase Deficiency
Hepatomegaly, Hydrocephalus, Anteverted nares, Spasticity, Increased CSF protein concentration, M... OMIM:272200
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Nasal polyposis, Recurrent sinusitis, Bronchiectasis, Rec... OMIM:620197
Genetic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Chronic kidne... ORPHA:656
Infantile Sialic Acid Storage Disease
Hepatomegaly, Hydrocephalus, Vacuolated lymphocytes, Anteverted nares, Nephrotic syndrome, Spleno... OMIM:269920
Oxoglutaric Aciduria
Hypertonia, Abnormal salivary gland morphology, Hydrocephalus, Short stature, Ataxia, Abnormal ur... ORPHA:31
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Intellectual Developmental Disorder, X-Linked 30
Short nose, Hydrocephalus, Anteverted nares, Short stature, Prominent nasal bridge, Clumsiness OMIM:300558
Fabry Disease
Congestive heart failure, Urinary mulberry cells, Angina pectoris, Hypertension, Transient ischem... OMIM:301500
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas, Rhizomelia, Hydrocephalus, Eczematoid dermatitis, Allergic rhinitis OMIM:618162
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria OMIM:620010
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Low-set, posteriorly rotated ears ORPHA:1528
Ovarian Dysgenesis 3
Delayed puberty, Female infertility, Primary amenorrhea OMIM:614324
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Acne, Macroorchidism ORPHA:3000
Lissencephaly 5
Hydrocephalus, Occipital encephalocele, Hearing impairment OMIM:615191
Frasier Syndrome
Glomerulopathy, Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria... ORPHA:347
Krabbe Disease
Hydrocephalus, Failure to thrive, Hearing impairment, Increased CSF protein concentration OMIM:245200
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Hypoplastic spleen, Wide nasal bridge, Wide nose ORPHA:89844
Functioning Gonadotropic Adenoma
Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary gonadotropic ce... ORPHA:91348
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Truncal ataxia, Dandy-Walker malformation, Dilated fourth ventricle, Wide nasal br... OMIM:220220
Dent Disease
Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis... ORPHA:1652
Nasu-Hakola Disease
Acute leukemia, Oculomotor apraxia, Hydrocephalus, Chorea, Spasticity, Ventriculomegaly ORPHA:2770
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Proteinuria, Stage 5 chronic kidney di... ORPHA:650
Bresek Syndrome
Hydrocephalus, Vesicoureteral reflux, Decreased testicular size, Renal hypoplasia, Growth delay, ... ORPHA:85284
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Obesity OMIM:616521
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Renal amyloidosis OMIM:134610
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Hyp... ORPHA:93108
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele ORPHA:352682
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Short nose, Underdeveloped nasal alae, Hypoplastic nipples, Absent nipple, Eczematoid dermatitis,... OMIM:305100
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Recurrent otitis media, Asplenia OMIM:618948
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Tapered sperm head, Oligozoospermia, Reduced sp... OMIM:618433
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Low-set, posteriorly rotated ears, Hydrocephalus, Hearing impairment, Macrotia, Short stature ORPHA:2701
Renal Hypoplasia, Bilateral
Decreased glomerular filtration rate, Hypertension, Vesicoureteral reflux, Beta 2-microglobulinur... ORPHA:97362
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Microtia, Myelomeningocele, Hearing impairment, Intrauterine growth retardation ORPHA:1914
Thalidomide Embryopathy
Short stature, Chronic rhinitis ORPHA:3312
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Hearing impairment, Short stature, Holoprosencephaly, Ventriculomegaly ORPHA:93274
Albers-Schönberg Osteopetrosis
Hydrocephalus, Arthritis, Hearing impairment, Short stature, Osteoarthritis, Mandibular osteomyel... ORPHA:53
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Macrotia OMIM:300886
Gracile Bone Dysplasia
Hydrocephalus, Asplenia, Short stature, Hypoplastic spleen, Micropenis OMIM:602361
Methylcobalamin Deficiency Type Cble
Postnatal growth retardation, Hydrocephalus, Hearing impairment, Failure to thrive, Intrauterine ... ORPHA:2169
Pontocerebellar Hypoplasia, Type 7
Hypertonia, Oculomotor apraxia, Hydrocephalus, Tongue fasciculations, Spasticity, Spastic paraple... OMIM:614969
Genetic Recurrent Myoglobinuria
Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Dark urine, Fatigab... ORPHA:99845
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Hydrocephalus, Pericarditis, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Nephrotic syndrome, Mucopolysacchariduria, Proteinuria OMIM:215250
Dent Disease 1
Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ... OMIM:300009
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Short nose, Hydrocephalus, Anteverted nares, Ventriculomegaly, Cryptorchidism, Wide nasal bridge OMIM:618577
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Ventriculomegaly, Intrauterine growth retardation ORPHA:272
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Hereditary Pheochromocytoma-Paraganglioma
Congestive heart failure, Hematuria, Glomerular sclerosis, Hypertension associated with pheochrom... ORPHA:29072
Thanatophoric Dysplasia
Disproportionate short-limb short stature, Hydrocephalus, Low-set ears, Hearing impairment, Intra... ORPHA:2655
Stormorken Syndrome
Anemia, Hematuria, Howell-Jolly bodies, Asplenia, Short stature, Hypoplastic spleen, Thrombocytop... OMIM:185070
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormal pyramidal sign, Babinski sign, Spasticity, Hydrocephalus ORPHA:397951
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hypertrophic cardiomyopathy, Glycosuria, Hyperphosphaturia, Renal Fanconi syndrome, Proteinuria, ... ORPHA:436271