Gene Summary

Name:
tau tubulin kinase 2
Synonyms:
TTK,  B930008N24Rik,  2610507N02Rik

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
embryonic lethality prior to tooth bud stage Ttbk2em1(IMPC)J HOM   E12.5 0.00
prenatal lethality prior to heart atrial septation Ttbk2em1(IMPC)J HOM   E15.5 0.00
preweaning lethality, complete penetrance Ttbk2em1(IMPC)J HOM   Early adult 0.00

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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.

Electrocardiogram (ECG)

Waveform Image

15 Images

Auditory Brain Stem Response

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

7 Images

Human diseases caused by Ttbk2 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 Ttbk2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinocerebellar Ataxia 11
OMIM:604432
Spinocerebellar Ataxia Type 11
ORPHA:98767

The table below shows human diseases predicted to be associated to Ttbk2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Syndactyly, Type Iv
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... OMIM:186200
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence
Intrauterine growth retardation, Holoprosencephaly OMIM:306990
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... OMIM:174500
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Polydactyly, Postaxial, Type A1
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb OMIM:174200
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Polydactyly, Postaxial, Type A10
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly OMIM:618498
Acrocephalopolysyndactyly Type Iv
Hand polydactyly, Camptodactyly, Radial deviation of finger, Clinodactyly, Syndactyly, Ulnar devi... OMIM:201020
Vissers-Bodmer Syndrome
Intrauterine growth retardation, Holoprosencephaly, Short stature OMIM:619033
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Congenital Absence Of Upper Arm And Forearm With Hand Present
Stillbirth, Upper limb phocomelia, Polydactyly, Syndactyly, Abnormal hip bone morphology ORPHA:294975
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Preaxial hand polydactyly, Syndactyly, Broad hallux OMIM:234280
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Polydactyly, Preaxial Iv
Preaxial polydactyly, 3-4 finger syndactyly, Dysplastic distal thumb phalanges with a central hol... OMIM:174700
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Hydranencephaly, Hydrocephalus OMIM:617967
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly... OMIM:609637
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly, Tapered finger OMIM:300706
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short hallux, Overlapping fingers, Postaxial polydactyly, Adducted thumb, Short distal phalanx of... OMIM:618167
Bardet-Biedl Syndrome 7
Polydactyly OMIM:615984
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Nephronophthisis 16
Nephronophthisis, Renal insufficiency, Polycystic kidney dysplasia, Enlarged kidney OMIM:615382
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly OMIM:611638
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Postaxial hand polydactyly, Finger syndactyly, Symphalangism affecting t... ORPHA:1892
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Normal pressure hydrocephalus OMIM:611808
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Intrauterine growth retardation, Holoprosencephaly, Hydranencephaly ORPHA:2570
Pineocytoma
Increased CSF protein, Hydrocephalus ORPHA:251912
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Polycystic kidney dysplasia, Hydrocephalus OMIM:617866
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Nephronophthisis 18
Nephronophthisis, Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:615862
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Ventricular septal defect, Holoprosencephaly, Spinal dysraphism, Anenceph... ORPHA:1908
Bardet-Biedl Syndrome 22
Polydactyly OMIM:617119
Lambotte Syndrome
Semilobar holoprosencephaly, Ventricular septal defect, Intrauterine growth retardation OMIM:245552
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Ring Chromosome 21 Syndrome
Holoprosencephaly, Azoospermia, Short stature, Abnormal heart morphology ORPHA:1445
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Hyperparathyroidism 2 With Jaw Tumors
Papillary renal cell carcinoma, Renal cortical adenoma, Nephroblastoma, Polycystic kidney dysplas... OMIM:145001
Distal Monosomy 13Q
Holoprosencephaly, Abnormal cardiac septum morphology, Short stature, Anencephaly ORPHA:1590
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal dysplasia, Renal cyst, Renal agenesis, Abnormality of the kidney OMIM:615993
Chromosome 1Q41-Q42 Deletion Syndrome
Holoprosencephaly, Short stature OMIM:612530
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Hartsfield Syndrome
Intrauterine growth retardation, Lobar holoprosencephaly ORPHA:2117
Bardet-Biedl Syndrome 6
Polydactyly, Syndactyly OMIM:605231
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Thanatophoric Dysplasia Type 2
Atrial septal defect, Holoprosencephaly, Patent ductus arteriosus, Short stature, Hydrocephalus ORPHA:93274
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Hydrocephalus, Aqueductal stenosis ORPHA:2182
Band Heterotopia
Ventriculomegaly, Hydrocephalus OMIM:600348
Holoprosencephaly 11
Holoprosencephaly OMIM:614226
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia OMIM:600666
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Holoprosencephaly, Ventricular septal defect OMIM:601357
Ventriculomegaly With Defects Of The Radius And Kidney
Horseshoe kidney, Ventriculomegaly, Ectopic kidney, Renal agenesis, Ureteral duplication, Hydroce... OMIM:602200
Triploidy
Holoprosencephaly, Meningocele, Intrauterine growth retardation, Abnormal cardiac septum morpholo... ORPHA:3376
Distal Monosomy 7Q36
Holoprosencephaly, Short stature ORPHA:1636
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Polycystic kidney dysplasia, Stage 5 chr... OMIM:613095
Holoprosencephaly, Recurrent Infections, And Monocytosis
Holoprosencephaly, Short finger, Tapered finger, Short toe, Brachydactyly OMIM:610680
Hydrolethalus Syndrome 2
Postaxial polydactyly, Preaxial polydactyly, Hydrocephalus, Anencephaly OMIM:614120
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventriculomegaly, Ectopic kidney, Abnormality of the kidney, Cystic renal dysplasia OMIM:613730
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Ureteral atresia, Hydronephrosis, Spina bifida occulta, Myelomeningocele, Hydrocephalus OMIM:183802
Femoral-Facial Syndrome
Long penis, Ventriculomegaly, Abnormal localization of kidney, Polycystic kidney dysplasia, Renal... ORPHA:1988
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Postaxial Oligodactyly, Tetramelic
Radial bowing, Postaxial hand polydactyly, Cone-shaped epiphysis, Lunate-triquetral fusion, Posta... OMIM:176240
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Colpocephaly OMIM:614870
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Polycystic kidney dysplasia OMIM:173900
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Postaxial hand polydactyly, Short femur, Short phalanx of finger, Still... OMIM:200700
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Absence of renal corticomedullary differentiation, ... OMIM:263200
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly, Coxa valga, Short distal phalanx of finger OMIM:601370
Agnathia-Otocephaly Complex
Holoprosencephaly, Situs inversus totalis OMIM:202650
Kleeblattschaedel
Hydrocephalus OMIM:148800
Orofaciodigital Syndrome Xviii
Genu valgum, Short middle phalanx of finger, Preaxial polydactyly, Postaxial polydactyly, Short d... OMIM:617927
Neural Tube Defects, Susceptibility To
Anencephaly, Urinary incontinence, Spina bifida occulta, Myelomeningocele, Hydrocephalus OMIM:182940
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Holoprosencephaly, Growth delay, Patent ductus arteriosus, Hydrocephalus ORPHA:77298
Carpenter Syndrome
Genu valgum, Postaxial hand polydactyly, Broad thumb, Toe syndactyly, Finger syndactyly, Polydact... ORPHA:65759
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Medullary cystic kidney disease 2
Multiple renal cysts, Enuresis, Renal tubular atrophy, Renal corticomedullary cysts, Tubulointers... OMIM:603860
Radial Aplasia, X-Linked
Penile hypospadias, Hydrocephalus OMIM:312190
Nevus Comedonicus Syndrome
Spina bifida, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida occulta ORPHA:64754
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Fin... ORPHA:2378
Microtia-Anotia
Holoprosencephaly OMIM:600674
Monosomy 18P
Holoprosencephaly, Short stature ORPHA:1598
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly OMIM:615433
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
1Q41Q42 Microdeletion Syndrome
Holoprosencephaly, Growth delay, Short stature ORPHA:250999
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Tubulointerstitial ne... ORPHA:157
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Distal Tetrasomy 15Q
Horseshoe kidney, Hydrocephalus, Nephroblastoma, Polycystic kidney dysplasia, Hydronephrosis, Dan... ORPHA:314588
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:613154
Biemond Syndrome Type 2
Preaxial polydactyly, Hydrocephalus ORPHA:141333
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Ventriculomegaly, Anencephaly, Renal dysplasia, Renal cyst, Hydronephrosis, Micropenis, Hydroceph... OMIM:615287
Campomelia, Cumming Type
Polycystic kidney dysplasia OMIM:211890
Bardet-Biedl Syndrome 4
Polydactyly, Syndactyly, Brachydactyly OMIM:615982
Joubert Syndrome 16
Nephronophthisis, Renal cyst, Dandy-Walker malformation OMIM:614465
Holoprosencephaly-Caudal Dysgenesis Syndrome
Holoprosencephaly ORPHA:2165
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Holoprosencephaly, Situs inversus totalis ORPHA:990
Mend Syndrome
Overlapping fingers, Overlapping toe, Polydactyly, 2-3 toe syndactyly, Hydrocephalus, Long fingers OMIM:300960
Hydrocephalus, Normal-Pressure, 1
Urinary incontinence, Normal pressure hydrocephalus OMIM:236690
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Ventriculomegaly, Tub... ORPHA:228308
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst OMIM:617874
Holoprosencephaly-Craniosynostosis Syndrome
Holoprosencephaly, Short stature ORPHA:2163
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Dandy-Walker malformation, Multicystic kidney dysplasia ORPHA:3032
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Trisomy 17P
Urethral valve, Urethral stenosis, Hydronephrosis, Polycystic kidney dysplasia, Hypoplasia of pen... ORPHA:261290
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glutaric aciduria, Generalized aminoaciduria, Proximal tubulopathy, Glycosu... OMIM:231680
Microform Holoprosencephaly
Intrauterine growth retardation, Holoprosencephaly, Tetralogy of Fallot, Short stature ORPHA:280200
Microtia
Holoprosencephaly ORPHA:83463
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Renal insufficiency, Nephropathy, Multicystic kidney dysplasia ORPHA:1909
Solitary Median Maxillary Central Incisor
Holoprosencephaly, Short stature OMIM:147250
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia OMIM:608776
Meckel Syndrome, Type 2
Postaxial hand polydactyly, Polydactyly, Bowing of the long bones, Anencephaly, Meningocele OMIM:603194
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Polydactyly, Absent tibia OMIM:188740
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ventriculomegaly, Hydronephrosis, Polycystic kidney dysplasia, Long-chain dicarb... OMIM:608836
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Renal Tubular Dysgenesis
Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis, Nephropathy ORPHA:3033
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Holoprosencephaly, Complete a... OMIM:264480
Orofaciodigital Syndrome Vi
Preaxial hand polydactyly, Toe syndactyly, Central Y-shaped metacarpal, Preaxial foot polydactyly... OMIM:277170
Masa Syndrome
Ventriculomegaly, Hydrocephalus OMIM:303350
Diencephalic Syndrome
Long penis, Hydrocephalus ORPHA:1672
Arima Syndrome
Nephronophthisis, Tubulointerstitial fibrosis, Occipital meningocele, Renal tubular atrophy, Dila... OMIM:243910
1Q21.1 Microduplication Syndrome
Hypospadias, Hydrocephalus ORPHA:250994
Polycystic Kidney, Cataract, And Congenital Blindness
Polycystic kidney dysplasia OMIM:263100
Bardet-Biedl Syndrome 19
Polydactyly OMIM:615996
Bardet-Biedl Syndrome 9
Postaxial hand polydactyly, Polydactyly, Postaxial polydactyly, Syndactyly, Postaxial foot polyda... OMIM:615986
Branchiootorenal Syndrome 1
Renal malrotation, Abnormal renal collecting system morphology, Renal steatosis, Renal dysplasia,... OMIM:113650
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Radial deviation of the hand, Prominent calcaneus, Oligodactyly, Tarsal... ORPHA:2756
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Short phalanx of finger, Postaxial polydactyly, Limb undergrowth, Short distal ... OMIM:617102
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Renal insufficiency, Renal corticomedullary cysts, Hydrocephalus OMIM:219730
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
16P13.11 Microdeletion Syndrome
Holoprosencephaly, Atrial septal defect, Short stature, Ventricular septal defect ORPHA:261236
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal hypoplasia, Hypospadias, Renal cyst, Polycystic kidney dysplasia OMIM:614091
Meckel Syndrome, Type 3
Polydactyly, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly OMIM:607361
49,Xxxxy Syndrome
Holoprosencephaly, Arrhinencephaly, Azoospermia, Short stature ORPHA:96264
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Atrial septal defect, Myocardial fibrosis, Holoprosencephaly, Pulmonic stenosis, Dilated cardiomy... OMIM:253800
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia OMIM:263210
Trisomy 18
Spina bifida, Atrial septal defect, Ventricular septal defect, Holoprosencephaly, Growth delay, A... ORPHA:3380
Meckel Syndrome, Type 10
Hypospadias, Renal cyst, Micropenis, Anencephaly OMIM:614175
Pancreatic Agenesis-Holoprosencephaly Syndrome
Semilobar holoprosencephaly, Holoprosencephaly, Intrauterine growth retardation ORPHA:556955
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Perimembranous ventricular septal defect, Umbilical hernia, Intraute... OMIM:618651
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Renal dysplasia, Ureteral atresia, Polycystic kidney dysplasia, Renal insufficie... OMIM:208540
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Iniencephaly
Rocker bottom foot, Spina bifida, Holoprosencephaly, Rhizomelia, Spinal dysraphism, Anencephaly, ... ORPHA:63259
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Bardet-Biedl Syndrome 17
Polydactyly, Brachydactyly, Mesoaxial polydactyly OMIM:615994
Endocrine-Cerebroosteodysplasia
Polydactyly, Holoprosencephaly, Preaxial polydactyly, Postaxial polydactyly, Sandal gap, Syndacty... OMIM:612651
Short-Rib Thoracic Dysplasia 12
Patent foramen ovale, Ventricular septal defect, Holoprosencephaly, Patent ductus arteriosus, Ane... OMIM:269860
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:324416
Orofaciodigital Syndrome Xvii
Clubbing of fingers, Central Y-shaped metacarpal, Polydactyly, Short middle phalanx of the 2nd fi... OMIM:617926
Fried Syndrome
Hydrocephalus ORPHA:85335
Joubert Syndrome 18
Polydactyly, Camptodactyly OMIM:614815
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Syndactyly, Hydrocephalus OMIM:602501
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
6P22 Microdeletion Syndrome
Hydronephrosis, Hydrocephalus ORPHA:251046
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Abnormal localization of kidney ORPHA:83473
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Papillary Tumor Of The Pineal Region
Increased CSF protein, Hydrocephalus ORPHA:251915
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Pettigrew Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:304340
Holoprosencephaly 4
Semilobar holoprosencephaly OMIM:142946
Phelan-Mcdermid Syndrome
Polycystic kidney dysplasia, Ventriculomegaly, Vesicoureteral reflux, Abnormality of the kidney OMIM:606232
Jacobsen Syndrome
Atrial septal defect, Ventricular septal defect, Holoprosencephaly, Intrauterine growth retardati... OMIM:147791
Meckel Syndrome, Type 8
Polydactyly, Talipes equinovarus, Postaxial hand polydactyly OMIM:613885
Multiple Acyl-Coa Dehydrogenase Deficiency
Lacticaciduria, Glutaric aciduria, 3-Methylglutaric aciduria, Polycystic kidney dysplasia, Ethylm... ORPHA:26791
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis OMIM:617056
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst OMIM:613390
Nephronophthisis 15
Polydactyly OMIM:614845
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... OMIM:604387
Melanosis, Neurocutaneous
Dandy-Walker malformation, Hydrocephalus, Choroid plexus papilloma OMIM:249400
Ivic Syndrome
Small thenar eminence, Limited wrist movement, Hypoplasia of the radius, Short femur, Upper limb ... OMIM:147750
Vacterl Association With Hydrocephalus
Renal hypoplasia, Hydrocephalus, Aqueductal stenosis OMIM:276950
Orofaciodigital Syndrome Xv
Broad hallux, Postaxial polydactyly OMIM:617127
Pallister-Hall Syndrome
Ventricular septal defect, Holoprosencephaly, Patent ductus arteriosus, Neonatal death, Short sta... OMIM:146510
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal dysplasia, Hydranencephaly, Renal cyst, Ureteral agenesis OMIM:236500
Papillorenal Syndrome
Renal malrotation, Horseshoe kidney, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter... OMIM:120330
Peroxisome Biogenesis Disorder 2A (Zellweger)
Polycystic kidney dysplasia, Aminoaciduria OMIM:214110
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Re... OMIM:256100
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Renal dysplasia, Vesicoureteral reflux, Hydronephrosis, Polycystic kid... ORPHA:2237
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus ORPHA:352682
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus OMIM:304100
Holoprosencephaly-Postaxial Polydactyly Syndrome
Holoprosencephaly, Abnormal cardiac septum morphology, Hydrocephalus, Umbilical hernia ORPHA:2166
Steinfeld Syndrome
Holoprosencephaly, Abnormal heart morphology OMIM:184705
Camptobrachydactyly
Hand polydactyly, Congenital finger flexion contractures, Syndactyly, Short toe, Brachydactyly OMIM:114150
Mosaic Variegated Aneuploidy Syndrome
Atrial septal defect, Holoprosencephaly, Growth delay, Short stature, Intrauterine growth retarda... ORPHA:1052
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Dilation of lateral ventricles OMIM:300864
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... OMIM:258860
Joubert Syndrome 23
Polydactyly OMIM:616490
Achondroplasia
Hydrocephalus OMIM:100800
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Hydrocephalus, Enlarged kidney OMIM:314390
Holoprosencephaly
Branchial anomaly, Ventricular septal defect, Holoprosencephaly, Spinal dysraphism, Abnormal pulm... ORPHA:2162
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, CSF lymphocytic pleiocytosis, Hydrocephalus OMIM:610333
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Complete duplication of the 1st metatarsal, Clinodactyly of the 5th finger, Preaxial polydactyly OMIM:129540
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus ORPHA:2183
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Renal cyst OMIM:228940
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Polydactyly, Clinodactyly of the 5th finger, Upper limb asymmetry ORPHA:231140
Pallister-Hall-Like Syndrome
Renal dysplasia, Micropenis, Hydrocephalus OMIM:241800
Tuberous Sclerosis Complex
Renal angiomyolipoma, Renal cell carcinoma, Chronic kidney disease, Renal cyst, Stage 5 chronic k... ORPHA:805
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:225790
Joubert Syndrome 20
Syndactyly, Postaxial polydactyly OMIM:614970
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Ventriculomegaly, Horseshoe kidney, Hydrocephalus OMIM:218350
Meckel Syndrome, Type 4
Anencephaly, Meningocele, Renal cyst, Hydrocephalus, Dandy-Walker malformation OMIM:611134
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Hypoplastic ischia OMIM:616910
Monosomy 13Q14
Intrauterine growth retardation, Holoprosencephaly, Short stature ORPHA:1587
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Craniotelencephalic Dysplasia
Arrhinencephaly, Hydrocephalus ORPHA:1528
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal agenesis, Renal hypoplasia, Hypospadias, Micropenis, Hydrocephalus ORPHA:171839
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Ventricular septal defect, Patent ductus arteriosus, Alobar holopros... OMIM:301043
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Hematuria, Nephropathy, Renal cyst OMIM:611773
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Increased CSF lactate, Renal tubular acidosis, Renal dysplasia, Renal cyst, Ren... OMIM:614922
Joubert Syndrome 10
Postaxial polydactyly OMIM:300804
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Short long bone, Brachydactyly, Postaxial polydactyly OMIM:615633
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Orofaciodigital Syndrome I
Myelomeningocele, Polycystic kidney dysplasia, Hydrocephalus, Proteinuria OMIM:311200
Coach Syndrome 2
Hydrocephalus, Hyperechogenic kidneys OMIM:619111
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus ORPHA:261102
Alagille Syndrome 2
Hematuria, Renal hypoplasia, Renal tubular acidosis, Renal cyst, Renal insufficiency, Proteinuria OMIM:610205
Meckel Syndrome, Type 6
Renal cyst, Hydrocephalus, Anencephaly OMIM:612284
Bresek Syndrome
Hypoplasia of the bladder, Renal hypoplasia, Renal dysplasia, Vesicoureteral reflux, Hydrocephalus ORPHA:85284
Isolated Exencephaly
Holoprosencephaly ORPHA:563612
Bardet-Biedl Syndrome 8
Polydactyly OMIM:615985
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Polydactyly, Short long bone, Brachydactyly OMIM:613819
Diaphanospondylodysostosis
Multiple renal cysts, Myelomeningocele ORPHA:66637
Au-Kline Syndrome
Hip dysplasia, Deep palmar crease, Postaxial polydactyly, Overlapping toe OMIM:616580
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the radius, Holoprosencephaly, Hypoplasia of the ulna, Foot polydactyly, Aplasia/Hy... ORPHA:3186
Short Rib-Polydactyly Syndrome
Nephronophthisis, Urogenital sinus anomaly, Polycystic kidney dysplasia, Hypospadias, Abnormality... ORPHA:1505
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Joubert Syndrome 17
Polydactyly, Syndactyly OMIM:614615
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis OMIM:307000
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Oxoglutaric Aciduria
Abnormal urine alpha-ketoglutarate concentration, Hydrocephalus ORPHA:31
Craniofacial Dyssynostosis
Hydrocephalus ORPHA:1516
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Nephropathy, Renal dysplasia, Renal cyst, Stage 5 chronic kidney disease OMIM:266920
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus OMIM:614195
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Birt-Hogg-Dube Syndrome
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Arachnoiditis
Urinary bladder sphincter dysfunction, Hydrocephalus ORPHA:137817
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Renal cyst, Polycystic kidney dysplasia OMIM:610199
Holoprosencephaly 3
Holoprosencephaly OMIM:142945
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Renal cyst OMIM:615583
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
15q26 overgrowth syndrome
Horseshoe kidney, Vesicoureteral reflux, Duplication of renal pelvis, Hydronephrosis, Polycystic ... DECIPHER:81
Diabetic Embryopathy
Spinal dysraphism, Hydronephrosis, Renal hypoplasia/aplasia, Ureteral duplication, Micropenis, Hy... ORPHA:1926
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Ventriculomegaly, Chronic kidney disease, Hydrocephalus OMIM:615630
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:613153
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormal localization of kidney, Abnormality of the ureter, Hy... ORPHA:1834
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Renal tu... OMIM:174000
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Recurrent urinary tract infections, Decr... ORPHA:730
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Joubert Syndrome 15
Polydactyly OMIM:614464
Acromelic Frontonasal Dysostosis
Polydactyly, Talipes equinovarus, Preaxial polydactyly, Syndactyly OMIM:603671
Joubert Syndrome 14
Renal cyst, Hydrocephalus, Dandy-Walker malformation OMIM:614424
Silver-Russell Syndrome Due To A Point Mutation
Polydactyly, Syndactyly, Small placenta, Clinodactyly of the 5th finger, Short 5th finger, Ectrod... ORPHA:397590
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Anencephaly, Abnormality of the ureter, Polycystic kidney dysplasia, R... OMIM:249000
Hemangioblastoma
Neurogenic bladder, Hydrocephalus ORPHA:252054
Bardet-Biedl Syndrome 3
Brachydactyly, Postaxial polydactyly OMIM:600151
Smith-Lemli-Opitz Syndrome
Atrial septal defect, Ventricular septal defect, Holoprosencephaly, Growth delay, Patent ductus a... OMIM:270400
Smith-Lemli-Opitz Syndrome
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect, Holoprosencephaly... ORPHA:818
Pelger-Huet Anomaly
Short 4th metacarpal, Short 3rd metacarpal, Upper limb undergrowth, Polydactyly, Short 5th metaca... OMIM:169400
Mental Retardation, Buenos Aires Type
Hypospadias, Abnormality of the urinary system, Hydrocephalus OMIM:249630
Hydrocephalus With Associated Malformations
Hydrocephalus OMIM:236640
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Holoprosencephaly 7
Semilobar holoprosencephaly, Hydrocephalus, Alobar holoprosencephaly OMIM:610828
Lissencephaly 5
Hydrocephalus OMIM:615191
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydronephrosis, Polycystic kidney dysplasia, Hydroureter OMIM:236700
Congenital Toxoplasmosis
Ventriculomegaly, Hydrocephalus ORPHA:858
Holoprosencephaly 2
Holoprosencephaly, Single ventricle OMIM:157170
Charge Syndrome
Holoprosencephaly, Patent ductus arteriosus, Abnormal aortic valve morphology, Postnatal growth r... ORPHA:138
Infantile Sialic Acid Storage Disease
Hydrocephalus, Nephrotic syndrome OMIM:269920
Central Precocious Puberty
Hydrocephalus ORPHA:759
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Bilateral talipes equinovarus, Preaxial polydactyly, Overlapping fingers, Postaxial polydactyly OMIM:618142
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Ventriculomegaly, Hydrocephalus OMIM:175700
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Ventriculomegaly, Renal cyst, Multicystic kidney dysplasia ORPHA:2031
Thanatophoric Dysplasia
Ventriculomegaly, Abnormality of the kidney, Hydrocephalus ORPHA:2655
Plasminogen Deficiency, Type I
Dandy-Walker malformation, Nephrolithiasis, Nephritis, Hydrocephalus OMIM:217090
Temple Syndrome
Hydrocephalus OMIM:616222
Septooptic Dysplasia
Polydactyly, Short finger OMIM:182230
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Vesicoureteral reflux, Multiple renal cysts ORPHA:1166
20P13 Microdeletion Syndrome
Polydactyly, Clinodactyly, Brachydactyly, Finger syndactyly ORPHA:313781
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:163961
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Dilation of lateral ventricles OMIM:263520
22Q11.2 Deletion Syndrome
Spina bifida, Multiple renal cysts, Renal hypoplasia, Arrhinencephaly, Meningocele, Vesicouretera... ORPHA:567
Rhombencephalosynapsis
Short phalanx of finger, Finger syndactyly, Polydactyly, Complete duplication of thumb phalanx, H... ORPHA:59315
Krabbe Disease
Increased CSF protein, Hydrocephalus OMIM:245200
Axial Osteomalacia
Renal cyst OMIM:109130
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Hydrocephalus OMIM:600991
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplasia of the radius, Hypoplastic ilia, Postaxial polydactyly, Syndactyly, Brachydactyly, Mic... OMIM:617895
Distal Monosomy 12Q
Vesicoureteral reflux, Ectopic kidney, Polycystic kidney dysplasia, Hydronephrosis, Micropenis ORPHA:96149
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Renal ins... ORPHA:1475
Mental Retardation, Autosomal Dominant 35
Ventriculomegaly, Hydrocephalus OMIM:616355
Ritscher-Schinzel Syndrome 1
Hypospadias, Hydronephrosis, Hydrocephalus, Dandy-Walker malformation OMIM:220210
Czeizel-Losonci Syndrome
Spina bifida, Congenital megaureter, Abnormality of the urinary system, Hydronephrosis, Spina bif... ORPHA:2437
Mental Retardation, Autosomal Dominant 23
Broad distal phalanx of finger, Postaxial polydactyly, Sandal gap OMIM:615761
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Acrorenal-Mandibular Syndrome
Renal agenesis, Aplasia of the bladder, Polycystic kidney dysplasia, Abnormality of the ureter OMIM:200980
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Hydrocephalus OMIM:618577
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Unilateral renal agenesis, Hydrocephalus, Hydronephrosis OMIM:609757
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Hydrocephalus ORPHA:272
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydronephrosis OMIM:618161
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly OMIM:217095
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Recurrent urinary tract infections, Oliguria, Reduced renal... ORPHA:731
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Short long bone, Syndactyly, Acetabular spurs, Brach... OMIM:615503
Prune Belly Syndrome
Urogenital sinus anomaly, Hydroureter, Recurrent urinary tract infections, Abnormality of the ure... ORPHA:2970
Otopalatodigital Syndrome Type 2
Short hallux, Camptodactyly of finger, Fibular aplasia, Tarsal synostosis, Elbow dislocation, Fla... ORPHA:90652
Holoprosencephaly 9
Holoprosencephaly, Hydrocephalus, Short stature OMIM:610829
Joubert Syndrome 7
Nephronophthisis, Renal cyst OMIM:611560
Nasu-Hakola Disease
Ventriculomegaly, Hydrocephalus ORPHA:2770
Caroli Disease
Polycystic kidney dysplasia ORPHA:53035
Hydrocephaly-Low Insertion Umbilicus Syndrome
Abnormality of the urinary system, Communicating hydrocephalus ORPHA:2184
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Intrauterine growth retardation, Severe short stature, Lobar holoprosencephaly ORPHA:468631
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Enuresis, Renal corticomedullary cysts, Stage 5 chronic kidney disease OMIM:606995
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220219
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus OMIM:613603
1Q44 Microdeletion Syndrome
Ventriculomegaly, Vesicoureteral reflux, Horseshoe kidney, Hydrocephalus ORPHA:238769
Trisomy 1Q
Congenital megaureter, Ventriculomegaly, Multicystic kidney dysplasia, Hydronephrosis, Hydrocephalus ORPHA:261344
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus OMIM:613776
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
3P25.3 Microdeletion Syndrome
2-3 finger syndactyly, Broad thumb, Overlapping toe, Postaxial polydactyly, Acromesomelia, Congen... ORPHA:435638
Floating-Harbor Syndrome
Renal agenesis, Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Congenital posterior ... ORPHA:2044
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Charge Syndrome
Atrial septal defect, Ventricular septal defect, Holoprosencephaly, Arrhinencephaly, Patent ductu... OMIM:214800
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Hydroureter, Multicystic kidney dysplasia, Abnormality of the urethra, ... ORPHA:2973
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Simpson-Golabi-Behmel Syndrome, Type 2
Micropenis, Multicystic kidney dysplasia OMIM:300209
Exstrophy-Epispadias Complex
Bladder duplication, Spina bifida, Horseshoe kidney, Hydrocephalus, Renal hypoplasia, Penoscrotal... ORPHA:322
Genitopalatocardiac Syndrome
Hypospadias, Hydrocephalus, Multicystic kidney dysplasia ORPHA:2075
Duane-Radial Ray Syndrome
Small thenar eminence, Radial deviation of the hand, Hypoplasia of the radius, Preaxial polydacty... OMIM:607323
Retinitis Pigmentosa 89
Postaxial polydactyly OMIM:618955
Joubert Syndrome 2
Abnormal renal physiology, Nephronophthisis, Enlarged fossa interpeduncularis, Renal cyst, Hydroc... OMIM:608091
Ring Chromosome 7 Syndrome
Holoprosencephaly, Situs inversus totalis, Short stature, Severe intrauterine growth retardation ORPHA:1449
Isolated Polycystic Liver Disease
Multiple renal cysts ORPHA:2924
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Vesicouret... ORPHA:107
Syndromic Diarrhea
Renal hypoplasia, Polycystic kidney dysplasia ORPHA:84064
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Congenital Disorder Of Glycosylation, Type Iil
Ventriculomegaly, Proximal tubulopathy, Unilateral renal agenesis, Hyperechogenic kidneys, Hydroc... OMIM:614576
Mental Retardation, Autosomal Dominant 36
Ventriculomegaly, Hydrocephalus OMIM:616362
Mullegama-Klein-Martinez Syndrome
Polydactyly, Clinodactyly of the 5th finger OMIM:301022
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Renal Cysts And Diabetes Syndrome
Abnormal renal morphology, Decreased numbers of nephrons, Renal hypoplasia, Proteinuria, Unilater... OMIM:137920
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly ORPHA:544254
Meckel Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Situs inversus totalis, Bowing of the long... ORPHA:564
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus OMIM:612940
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Joubert Syndrome 32
Postaxial polydactyly OMIM:617757
Cardioacrofacial Dysplasia 1
Genu valgum, Postaxial polydactyly, Limb undergrowth OMIM:619142
Chromosome 3Pter-P25 Deletion Syndrome
Tapered finger, Postaxial polydactyly OMIM:613792
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly OMIM:615824
Holoprosencephaly 1
Short stature, Single ventricle, Alobar holoprosencephaly, Ethmocephaly OMIM:236100
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Hydrocephalus OMIM:109120
Genitourinary And/Or Brain Malformation Syndrome
Holoprosencephaly OMIM:618820
Temple Syndrome
Hydrocephalus ORPHA:254516
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Abnormality of the kidney, Enuresis, Tubulointerstitial nephritis, Hydrocephalus, Dandy-Walker ma... ORPHA:459061
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
47,Xyy Syndrome
Azoospermia, Oligospermia, Hypospadias, Micropenis, Hydrocephalus ORPHA:8
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Postaxial polydactyly, Hydrocephalus OMIM:603387
Tarp Syndrome
Deep palmar crease, Hypoplasia of the radius, Short sternum, Postaxial polydactyly, Clinodactyly,... OMIM:311900
Caroli Syndrome
Polycystic kidney dysplasia, Abnormality of the kidney ORPHA:480520
Methylcobalamin Deficiency Type Cble
Hemolytic-uremic syndrome, Ventriculomegaly, Hydrocephalus, Glomerulopathy ORPHA:2169
Chondrodysplasia Punctata 2, X-Linked Dominant
Epiphyseal stippling, Polydactyly, Hemiatrophy, Postaxial polydactyly, Tarsal stippling, Bilatera... OMIM:302960
Fanconi Anemia, Complementation Group L
Renal hypoplasia, Micropenis, Hydrocephalus OMIM:614083
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Aprosencephaly Syndrome
Hand oligodactyly, Aprosencephaly, Anencephaly OMIM:207770
Suleiman-El-Hattab Syndrome
Polydactyly, Clinodactyly, Brachydactyly, Single transverse palmar crease OMIM:618950
Orofaciodigital Syndrome Xiv
Holoprosencephaly, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615948
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Anencephaly, Aplastic clavicle, Hydrocephalus, Micro... OMIM:616546
3C Syndrome
Ventriculomegaly, Hydronephrosis, Hypoplasia of penis, Hypospadias, Hydrocephalus, Dandy-Walker m... ORPHA:7
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Pallister-Hall Syndrome
Broad thumb, 3-4 finger cutaneous syndactyly, Supernumerary metacarpal bones, Patent ductus arter... ORPHA:672
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Nephrotic syndrome, Heavy prote... ORPHA:255249
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus OMIM:207950
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Nephronophthisis 13
Polydactyly OMIM:614377
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis, Communicating hydrocephalus ORPHA:1064
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Multiple... OMIM:216360
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Thoracoabdominal Syndrome
Renal agenesis, Hydrocephalus, Anencephaly, Hypospadias OMIM:313850
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus OMIM:273730
Emanuel Syndrome
Renal hypoplasia, Ventriculomegaly, Unilateral renal agenesis, Micropenis, Hydrocephalus, Dandy-W... ORPHA:96170
Marden-Walker Syndrome
Renal agenesis, Hydrocephalus, Hydroureter, Abnormal penis morphology, Abnormality of the urinary... ORPHA:2461
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Femoral-Facial Syndrome
Renal agenesis, Micropenis, Abnormal renal collecting system morphology, Polycystic kidney dysplasia OMIM:134780
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hematuria, Cystathioninuria, Nephropathy, Hemolytic-uremic syndrome, Methylmalonic aciduria, Rena... OMIM:277400
Roberts Syndrome
Polycystic kidney dysplasia, Long penis ORPHA:3103
Hartsfield Syndrome
Lobar holoprosencephaly OMIM:615465
Multiple Sulfatase Deficiency
Mucopolysacchariduria, Increased CSF protein, Ventriculomegaly, Hydrocephalus OMIM:272200
Pentalogy Of Cantrell
Renal agenesis, Anencephaly, Renal dysplasia, Hypospadias, Hydrocephalus ORPHA:1335
Combined Pituitary Hormone Deficiencies, Genetic Forms
Holoprosencephaly, Delayed puberty, Pituitary dwarfism, Growth delay ORPHA:95494
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hypercalciuria, Nephrocalcinosis, Renal cyst OMIM:615398
Crouzon Disease
Hydrocephalus ORPHA:207
Encephalocraniocutaneous Lipomatosis
Hydronephrosis, Hydrocephalus, Dandy-Walker malformation, Pelvic kidney OMIM:613001
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Meckel Syndrome, Type 7
Choroid plexus cyst, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Dandy-Walker m... OMIM:267010
Arnold-Chiari Malformation Type Ii
Neurogenic bladder, Ventriculomegaly, Aqueductal stenosis, Meningocele, Myelomeningocele, Hydroce... ORPHA:1136
Vacterl/Vater Association
Renal agenesis, Anencephaly, Multicystic kidney dysplasia, Abnormality of the urethra, Ectopic ki... ORPHA:887
Basal Cell Nevus Syndrome
Irregular ossification of hand bones, Short 4th metacarpal, Spina bifida, Palmar pits, Polydactyl... OMIM:109400
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Semilobar holoprosencephaly, Atrial septal defect, Ventricular septal defect, Growth delay, Intra... OMIM:301044
Peroxisome Biogenesis Disorder 12A (Zellweger)
Renal tubular dysfunction, Hydrocephalus OMIM:614886
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Colpocephaly, Communicating hydrocephalus OMIM:615219
Distal Renal Tubular Acidosis
Hypocitraturia, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal potassium wasting, Pro... ORPHA:18
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Hydrocephalus OMIM:618476
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Ventriculomegaly, Hydrocephalus ORPHA:370959
Congenital Sialidosis Type 2
Polydactyly, Hydrocephalus, Umbilical hernia ORPHA:93400
Joubert Syndrome With Oculorenal Defect
Renal insufficiency, Hydrocephalus, Nephropathy ORPHA:2318
Fanconi Anemia, Complementation Group B
Renal agenesis, Ventriculomegaly, Micropenis, Hydrocephalus OMIM:300514
Kleefstra Syndrome
Ventriculomegaly, Vesicoureteral reflux, Renal cyst, Hydronephrosis, Hypospadias, Renal insuffici... ORPHA:261494
Gorlin Syndrome
Hydrocephalus ORPHA:377
Hydrolethalus
Arrhinencephaly, Hydrocephalus, Anencephaly ORPHA:2189
Thanatophoric Dysplasia Type 1
Ventriculomegaly, Abnormality of the kidney, Hydrocephalus ORPHA:1860
Joubert Syndrome With Renal Defect
Renal insufficiency, Hydrocephalus, Nephropathy ORPHA:220497
Muenke Syndrome
Hydrocephalus ORPHA:53271
Polysyndactyly With Cardiac Malformation
Renal cyst OMIM:263630
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Ureteral triplication, Hydronephrosis, Hydrocephalus OMIM:104350
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Enlarged kidney OMIM:615415
Myopathy, Centronuclear, X-Linked
Hydrocephalus OMIM:310400
Trisomy 13
Displacement of the urethral meatus, Multiple renal cysts, Hydronephrosis, Abnormality of the ureter ORPHA:3378
Pseudoaminopterin Syndrome
Clubbing of fingers, Short 4th metacarpal, Hip subluxation, Overlapping toe, Synostosis of carpal... ORPHA:221120
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Pelvis-Shoulder Dysplasia
Spina bifida, Hydranencephaly, Hydronephrosis, Hydrocephalus</