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Gene: Ttbk2 MGI:2155779

Gene Summary

Name:

tau tubulin kinase 2

Synonyms:

B930008N24Rik, TTK, 2610507N02Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage
embryonic lethality prior to tooth bud stage	Ttbk2^em1(IMPC)J	HOM	E12.5
prenatal lethality prior to heart atrial septation	Ttbk2^em1(IMPC)J	HOM	E15.5
preweaning lethality, complete penetrance	Ttbk2^em1(IMPC)J	HOM	Early adult

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

8 Images

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Electroretinography 3

Fundus file

11 Images

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X-ray

XRay Images Forepaw

8 Images

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Eye Morphology

Images Ophthalmoscopy

4 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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Electrocardiogram (ECG)

Waveform Image

15 Images

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Auditory Brain Stem Response

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

7 Images

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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.

Human diseases associated with Ttbk2 (2 diseases)
Human diseases predicted to be associated with Ttbk2 (899 diseases)

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	Matching phenotypes	Source
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Microhydranencephaly, X-Linked	Intrauterine growth retardation, Holoprosencephaly	OMIM:306990
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Meckel Syndrome, Type 11	Occipital encephalocele, Polycystic kidney dysplasia	OMIM:615397
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Vissers-Bodmer Syndrome	Intrauterine growth retardation, Short stature, Holoprosencephaly	OMIM:619033
Polydactyly, Postaxial, Type A10	Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A	OMIM:618498
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosenceph...	OMIM:609637
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hip bone morphology	ORPHA:294975
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome	Holoprosencephaly	ORPHA:2523
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism, Holoprosencephaly, Tapered finger	OMIM:300706
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Hydrocephalus, Holoprosencephaly	OMIM:617967
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Meckel Syndrome 13	Occipital encephalocele, Polycystic kidney dysplasia	OMIM:617562
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Microphthalmia, Isolated, With Coloboma 5	Holoprosencephaly	OMIM:611638
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl...	ORPHA:488232
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Ventricular septal defect, Short stature, Situs inversus totalis, Hydrocephalus, M...	ORPHA:1908
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele, Postaxial polydactyly	OMIM:213010
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Hartsfield Syndrome	Encephalocele, Intrauterine growth retardation, Lobar holoprosencephaly	ORPHA:2117
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect, Holoprosencephaly, Anterior encephalocele	OMIM:601357
Distal Deletion 13Q	Encephalocele, Short stature, Anencephaly, Abnormal cardiac septum morphology, Holoprosencephaly	ORPHA:1590
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Lambotte Syndrome	Intrauterine growth retardation, Ventricular septal defect, Semilobar holoprosencephaly	OMIM:245552
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Hydranencephaly, Intrauterine growth retardation, Holoprosencephaly	ORPHA:2570
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Ring Chromosome 21 Syndrome	Azoospermia, Short stature, Holoprosencephaly, Abnormal heart morphology	ORPHA:1445
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Thanatophoric Dysplasia Type 2	Encephalocele, Short stature, Hydrocephalus, Patent ductus arteriosus, Holoprosencephaly, Atrial ...	ORPHA:93274
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Polycystic kidney dysplasia, Hyperechogenic kidneys, Enla...	OMIM:613885
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus	OMIM:166990
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren...	OMIM:145001
Holoprosencephaly 11	Holoprosencephaly	OMIM:614226
Split-Foot Malformation With Mesoaxial Polydactyly	1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot	OMIM:616890
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly	ORPHA:2182
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Bardet-Biedl Syndrome 7	Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:615984
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Nephronophthisis 18	Hydrocephalus, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointe...	OMIM:615862
Distal Monosomy 7Q36	Cryptorchidism, Short stature, Holoprosencephaly	ORPHA:1636
Triploidy	Cryptorchidism, Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Holoprosencephaly...	ORPHA:3376
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Microphthalmia, Isolated 4	Absent testis, Postaxial polydactyly	OMIM:613094
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Femoral-Facial Syndrome	Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kidney, Polycystic...	ORPHA:1988
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Cryptorchidism, Postaxial hand polydactyly, Genu v...	ORPHA:65759
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia	OMIM:615993
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Multipl...	OMIM:263200
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Growth delay,...	ORPHA:77298
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Renal agenesis, Ectopic kidney, Hydrocephalus, Horseshoe kidney, Lateral ve...	OMIM:602200
Meckel Syndrome, Type 9	Occipital encephalocele, Multicystic kidney dysplasia	OMIM:614209
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia	OMIM:614859
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Bardet-Biedl Syndrome 4	Cryptorchidism, Syndactyly, Polydactyly, Brachydactyly	OMIM:615982
Acromesomelic Dysplasia 2A	Death in infancy, Hypoplasia of the ulna, Short femur, Short humerus, Aplasia/Hypoplasia of the p...	OMIM:200700
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Chromosome 3Q13.31 Deletion Syndrome	Cryptorchidism, Decreased testicular size, Alobar holoprosencephaly	OMIM:615433
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va...	OMIM:617927
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Multiple...	OMIM:613095
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Joubert Syndrome 16	Encephalocele, Renal cyst, Dandy-Walker malformation, Nephronophthisis	OMIM:614465
Holoprosencephaly, Semilobar, With Craniosynostosis	Semilobar holoprosencephaly, Short distal phalanx of finger, Coxa valga	OMIM:601370
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Kleeblattschaedel	Hydrocephalus	OMIM:148800
1Q41Q42 Microdeletion Syndrome	Growth delay, Cryptorchidism, Short stature, Holoprosencephaly	ORPHA:250999
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly, Renal cyst	OMIM:614870
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Microtia-Anotia	Holoprosencephaly	OMIM:600674
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Distal Triplication 15Q	Abnormality of the kidney, Hydrocephalus, Dilatation of the renal pelvis, Horseshoe kidney, Hydro...	ORPHA:314588
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Polycystic kidney dysplasia, Hyperechogenic kidneys, Ventricu...	OMIM:617866
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta	ORPHA:64754
Agnathia-Otocephaly Complex	Secundum atrial septal defect, Holoprosencephaly, Situs inversus totalis	OMIM:202650
Radial Aplasia, X-Linked	Hydrocephalus, Penile hypospadias	OMIM:312190
1Q21.1 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Hypospadias	ORPHA:250994
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia, Dandy-Walker malformation	ORPHA:3032
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Meckel Syndrome, Type 3	Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P...	OMIM:607361
Monosomy 18P	Short stature, Holoprosencephaly	ORPHA:1598
Pseudotrisomy 13 Syndrome	Encephalocele, Ventricular septal defect, Dextrocardia, Cryptorchidism, Hydrocephalus, Complete a...	OMIM:264480
Neural Tube Defects, Susceptibility To	Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta	OMIM:182940
Trisomy 17P	Hypoplasia of penis, Urethral valve, Hydrocephalus, Urethral stenosis, Polycystic kidney dysplasi...	ORPHA:261290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Holoprosencephaly, Tra...	OMIM:253800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Indomethacin Embryofetopathy	Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology	ORPHA:1909
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis...	ORPHA:157
Biemond Syndrome Type 2	Hydrocephalus, Preaxial polydactyly	ORPHA:141333
Microtia	Holoprosencephaly	ORPHA:83463
Holoprosencephaly-Caudal Dysgenesis Syndrome	Holoprosencephaly	ORPHA:2165
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Hydrocephalus, Red-brown urine, Renal tubular epithel...	ORPHA:228308
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts	ORPHA:3033
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Situs inversus totalis, Holoprosencephaly	ORPHA:990
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Urinary incontinence	OMIM:236690
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po...	OMIM:603194
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Hydrocephalus, Tubular luminal dilatation, Renal corticomedullary cysts, Hyp...	OMIM:219730
Holoprosencephaly-Craniosynostosis Syndrome	Short stature, Holoprosencephaly	ORPHA:2163
Microform Holoprosencephaly	Intrauterine growth retardation, Tetralogy of Fallot, Short stature, Holoprosencephaly	ORPHA:280200
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Chromosome 1Q41-Q42 Deletion Syndrome	Cryptorchidism, Ventricular septal defect, Holoprosencephaly, Short stature	OMIM:612530
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Solitary Median Maxillary Central Incisor	Short stature, Holoprosencephaly	OMIM:147250
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Frontal encephalocele	ORPHA:261102
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Congenital Disorder Of Glycosylation, Type Il	Polycystic kidney dysplasia	OMIM:608776
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma...	OMIM:231680
Masa Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:303350
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cryptorchidism, Cystic renal dysplasia, Ventriculomegaly, Ectopic kidney	OMIM:613730
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda...	OMIM:615986
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Pancreatic Agenesis-Holoprosencephaly Syndrome	Intrauterine growth retardation, Holoprosencephaly, Semilobar holoprosencephaly	ORPHA:556955
16P13.11 Microdeletion Syndrome	Ventricular septal defect, Short stature, Cryptorchidism, Holoprosencephaly, Atrial septal defect	ORPHA:261236
Diencephalic Syndrome	Hydrocephalus, Long penis	ORPHA:1672
Branchiootorenal Syndrome 1	Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic...	OMIM:113650
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla...	OMIM:619902
Odontochondrodysplasia 1	Polycystic kidney dysplasia, Nephronophthisis	OMIM:184260
Short-Rib Thoracic Dysplasia 12	Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Anencephaly, Holoprosencephal...	OMIM:269860
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Pol...	OMIM:608836
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Gillessen-Kaesbach-Nishimura Syndrome	Polycystic kidney dysplasia	OMIM:263210
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia...	ORPHA:2756
49,Xxxxy Syndrome	Short stature, Cryptorchidism, Azoospermia, Holoprosencephaly, Decreased testicular size	ORPHA:96264
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Halperin-Birk Syndrome	Umbilical hernia, Semilobar holoprosencephaly, Perimembranous ventricular septal defect, Intraute...	OMIM:618651
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Trisomy 18	Ventricular septal defect, Short stature, Spina bifida, Cryptorchidism, Anencephaly, Growth delay...	ORPHA:3380
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped...	OMIM:617102
Developmental And Epileptic Encephalopathy 36	Hydrocephalus	OMIM:300884
Arima Syndrome	Dilated fourth ventricle, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal...	OMIM:243910
Iniencephaly	Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Myelomeningocele, Hydrocephalus, Ane...	ORPHA:63259
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Orofaciodigital Syndrome Xvii	Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me...	OMIM:617926
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst	OMIM:614091
Joubert Syndrome 18	Occipital encephalocele, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Talipes...	OMIM:614815
Meckel Syndrome 14	Occipital encephalocele, Holoprosencephaly, Single ventricle	OMIM:619879
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A...	OMIM:135750
Meckel Syndrome, Type 10	Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd...	OMIM:614175
Joubert Syndrome 15	Preaxial polydactyly, Exencephaly	OMIM:614464
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Abnormal localization of kidney	ORPHA:83473
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Hepatic cysts, Pancreatic cysts, Stage 5 chronic kidney disease, Ureteral at...	OMIM:208540
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hydrocephalus, Anencephaly, Polycystic kidney dysplasia, Occipital meningocele, Micropenis, Ventr...	OMIM:616546
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Micromelia, Postaxial p...	OMIM:612651
Holoprosencephaly 14	Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Aortic v...	OMIM:619895
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Cryptorchidism, Hydrocephalus, Abnormal cardiac septum morphology, Holoprosencepha...	ORPHA:2166
Fried Syndrome	Hydrocephalus	ORPHA:85335
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Hydrocephalus, Polydactyly	OMIM:602501
Nephronophthisis 15	Polydactyly	OMIM:614845
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Renal cyst, Dandy-Walker malformation	OMIM:611134
Orofaciodigital Syndrome Xi	Postaxial polydactyly	OMIM:612913
Joubert Syndrome 39	Occipital encephalocele, Polycystic kidney dysplasia	OMIM:619562
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Brachydactyly	OMIM:613819
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Hydrocephalus	OMIM:300886
Pallister-Hall Syndrome	Ventricular septal defect, Short stature, Cryptorchidism, Patent ductus arteriosus, Holoprosencep...	OMIM:146510
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Jacobsen Syndrome	Ventricular septal defect, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Atrial septal defect...	OMIM:147791
6P22 Microdeletion Syndrome	Hydrocephalus, Hydronephrosis	ORPHA:251046
Holoprosencephaly 4	Semilobar holoprosencephaly	OMIM:142946
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethylmalonic aciduria, Polycystic k...	ORPHA:26791
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst	OMIM:617056
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Renal hypoplasia	OMIM:276950
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus	OMIM:619302
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Cryptorchidism, Short long bone, Postaxial polydactyly, Brachydactyly	OMIM:615633
Phelan-Mcdermid Syndrome	Vesicoureteral reflux, Polycystic kidney dysplasia, Abnormality of the kidney, Ventriculomegaly	OMIM:606232
Diaphanospondylodysostosis	Myelomeningocele, Multiple renal cysts	ORPHA:66637
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cryptorchidism, Aminoaciduria, Polycystic kidney dysplasia	OMIM:214110
Arachnoid Cyst	Encephalocele, Hydrocephalus, Holoprosencephaly	ORPHA:2356
Bardet-Biedl Syndrome 19	Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals	OMIM:615996
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, 2-3 toe syndactyly, Coxa vara, Lobar holoprosencephaly, Radioulnar synostosis, Short ...	OMIM:614701
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short finger, Short ti...	OMIM:258860
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Cryptorchidism, Polydactyly, Hypoplastic ischia	OMIM:616910
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Clinodactyly	OMIM:607131
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Craniofacial Dyssynostosis With Short Stature	Hypospadias, Cryptorchidism, Hydrocephalus, Horseshoe kidney, Ventriculomegaly	OMIM:218350
Joubert Syndrome 20	4-5 toe syndactyly, Postaxial polydactyly	OMIM:614970
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me...	OMIM:610828
Mosaic Variegated Aneuploidy Syndrome	Short stature, Growth delay, Holoprosencephaly, Subvalvular aortic stenosis, Atrial septal defect...	ORPHA:1052
Holoprosencephaly	Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Cryptorchidism, Hy...	ORPHA:2162
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Increased CSF lactate, Colpocephaly, Hyperlysinuria, Increased CSF lysine concentr...	OMIM:616034
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hypospadias, Cryptorchidism, Renal cyst, Colpocephaly, Polycystic kidney dysplasia, Renal cortica...	OMIM:614866
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Noncommunicating hydrocep...	ORPHA:805
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Lobar holoprosencephaly, Growth delay, Neonatal death, Intrauterine growth retardation, Semilobar...	OMIM:618500
Genitopalatocardiac Syndrome	Hypospadias, Renal cyst	OMIM:231060
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele	ORPHA:1528
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Bresek Syndrome	Decreased testicular size, Hypoplasia of the bladder, Cryptorchidism, Hydrocephalus, Renal hypopl...	ORPHA:85284
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry	ORPHA:231140
Steinfeld Syndrome	Holoprosencephaly, Abnormal heart morphology	OMIM:184705
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Hydrocephalus	ORPHA:2183
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Renal agenesis, Hypospadias, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Micropenis	ORPHA:171839
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Polycystic kidney dysplasia, Vesi...	ORPHA:2237
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly, Renal cyst	OMIM:611561
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Cryptorchidism, Growth delay, Holoprosencephaly, Umbilical hernia, Pat...	OMIM:613884
Joubert Syndrome 7	Encephalocele, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum	OMIM:611560
Aicardi-Goutieres Syndrome 4	Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis	OMIM:610333
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Ventriculomegaly	OMIM:304100
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Joubert Syndrome 23	Polydactyly	OMIM:616490
Joubert Syndrome 10	Postaxial polydactyly	OMIM:300804
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly, Renal cyst, Horseshoe kidney, Aplasia of the...	OMIM:612284
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Central Precocious Puberty In Male	Hydrocephalus, Abnormality of the testis size	ORPHA:649929
Monosomy 13Q14	Intrauterine growth retardation, Short stature, Holoprosencephaly	ORPHA:1587
Fanconi Anemia, Complementation Group O	Hydronephrosis, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst	OMIM:613390
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Hypoplasia of the bladder, R...	OMIM:249000
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Isolated Polycystic Liver Disease	Multiple renal cysts	ORPHA:2924
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Hydronephrosis, Ventriculomegaly	OMIM:609757
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand	OMIM:245800
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Vesicoureteral reflux, Cryptorchidism, Multiple renal cysts, Renal hypoplasia/aplasia	ORPHA:1166
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Coach Syndrome 2	Hydrocephalus, Hyperechogenic kidneys	OMIM:619111
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus	OMIM:307000
Mckusick-Kaufman Syndrome	Hydroureter, Cryptorchidism, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis	OMIM:236700
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Orofaciodigital Syndrome I	Proteinuria, Pancreatic cysts, Myelomeningocele, Hydrocephalus, Ovarian cyst, Polycystic kidney d...	OMIM:311200
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Renal cyst	OMIM:614883
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Renal cyst	OMIM:611773
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Alobar holoprosencephaly, Patent ductus arteriosus, Hypoplastic left h...	OMIM:301043
Hogue-Janssen Syndrome 2	Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Deviation of the 5th finger	OMIM:616362
Hajdu-Cheney Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Renal cyst, Polycystic kidney dysplasia	OMIM:102500
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Cryptorchidism, Hydrocephalus, Ventriculomegaly	OMIM:618577
Diabetic Embryopathy	Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Hydrocephalus, Spinal dysraphism,...	ORPHA:1926
Say Syndrome	Proximal renal tubular acidosis, Cystic renal dysplasia	OMIM:181180
Isolated Exencephaly	Holoprosencephaly	ORPHA:563612
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hydrocephalus	OMIM:601794
Holoprosencephaly 3	Holoprosencephaly	OMIM:142945
Bardet-Biedl Syndrome 8	Postaxial polydactyly	OMIM:615985
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Short stature, Rhizomelia, Cryptorchidism, Patent ductus arteriosus, G...	ORPHA:818
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete...	ORPHA:2970
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Cryptorchidism, Short 5th finger, Polydactyly, Ectrodactyly, Small placenta, Clinodac...	ORPHA:397590
Plasminogen Deficiency, Type I	Hydrocephalus, Nephrolithiasis, Dandy-Walker malformation, Nephritis, Ventriculomegaly	OMIM:217090
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Renal cyst, Ureteral agenesis, Hydranencephaly, Renal dysplasia	OMIM:236500
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus	OMIM:618174
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Abnormality of the hum...	ORPHA:3186
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Pelger-Huet Anomaly	Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Umbilical hernia, Short 4th metacarpal...	OMIM:169400
Greig Cephalopolysyndactyly Syndrome	Cryptorchidism, Hydrocephalus, Hypospadias, Ventriculomegaly	OMIM:175700
Hartsfield Syndrome	Alobar holoprosencephaly, Cryptorchidism, Lobar holoprosencephaly, Growth delay, Semilobar holopr...	OMIM:615465
Congenital Toxoplasmosis	Hydrocephalus, Ventriculomegaly	ORPHA:858
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus, Renal dysplasia, Micropenis	OMIM:241800
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Postaxial polydactyly, Preaxial polydactyly, Bilateral talipes equinovarus, Over...	OMIM:618142
Orofaciodigital Syndrome Vi	Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Oc...	OMIM:277170
20P13 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly	ORPHA:313781
Tetrasomy 15Q26	Hydrocephalus, Hydronephrosis, Dandy-Walker malformation, Horseshoe kidney	OMIM:614846
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Hydrocephalus, Abnormality of the ureter, Renal cyst, Abnormal localiza...	ORPHA:1834
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Pancreatic cysts, Polycystic kidney dysplasia, Renal cyst	OMIM:610199
Septooptic Dysplasia	Polydactyly, Short finger	OMIM:182230
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Renal Hypoplasia, Bilateral	Proteinuria, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta...	ORPHA:97362
Arachnoiditis	Hydrocephalus, Urinary bladder sphincter dysfunction	ORPHA:137817
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly of the 5th finge...	OMIM:619721
Infantile Sialic Acid Storage Disease	Nephrotic syndrome, Hydrocephalus	OMIM:269920
Hemangioblastoma	Hydrocephalus, Neurogenic bladder	ORPHA:252054
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Charge Syndrome	Short stature, Aqueductal stenosis, Cryptorchidism, Patent ductus arteriosus, Postnatal growth re...	ORPHA:138
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Chronic kidney disease, Ventriculomegaly, Nephronophthisis	OMIM:615630
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys...	DECIPHER:81
Oxoglutaric Aciduria	Hydrocephalus, Abnormal urine alpha-ketoglutarate concentration	ORPHA:31
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Renal cyst, Meningocele, Multicystic kidney dysplasia, Ventriculomegaly	ORPHA:2031
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly	OMIM:615761
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation	OMIM:220220
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Renal hypoplasia, Renal cyst, Increased CSF lactate, Renal tubular acidosis,...	OMIM:614922
Ring Chromosome 7 Syndrome	Short stature, Situs inversus totalis, Hydrocele testis, Holoprosencephaly, Severe intrauterine g...	ORPHA:1449
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Ventriculomegaly	ORPHA:272
Joubert Syndrome 27	Polydactyly	OMIM:617120
Rhombencephalosynapsis	Finger syndactyly, Hydrocephalus, Polydactyly, Complete duplication of thumb phalanx, Short phala...	ORPHA:59315
Axial Osteomalacia	Renal cyst	OMIM:109130
22Q11.2 Deletion Syndrome	Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Meningocele, Renal hypoplasia, Occipita...	ORPHA:567
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Short stature, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus...	OMIM:270400
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral ventricle dilatation, Polycystic kidney dysplasia, Micropenis	OMIM:263520
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:163961
Holoprosencephaly 9	Cryptorchidism, Hydrocephalus, Short stature, Holoprosencephaly	OMIM:610829
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Unilateral renal agenesis, Multiple small medullary renal...	OMIM:216360
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
Distal Deletion 12Q	Unilateral cryptorchidism, Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Mi...	ORPHA:96149
Otopalatodigital Syndrome Type 2	Encephalocele, Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger...	ORPHA:90652
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:613153
Suleiman-El-Hattab Syndrome	Single transverse palmar crease, Cryptorchidism, Polydactyly, Clinodactyly, Brachydactyly	OMIM:618950
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus	ORPHA:380
Czeizel-Losonci Syndrome	Spina bifida, Myelomeningocele, Hydrocephalus, Ureteral agenesis, Congenital megaureter, Abnormal...	ORPHA:2437
Meckel Syndrome	Encephalocele, Bowing of the long bones, Situs inversus totalis, Cryptorchidism, Postaxial hand p...	ORPHA:564
Bardet-Biedl Syndrome 6	Hypospadias, Renal cyst	OMIM:605231
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Intrauterine growth retardation, Severe short stature, Lobar holoprosencephaly, Cryptorchidism	ORPHA:468631
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Brachy...	OMIM:617895
Autosomal Recessive Polycystic Kidney Disease	Recurrent urinary tract infections, Renal insufficiency, Pancreatic cysts, Oliguria, Stage 5 chro...	ORPHA:731
Townes-Brocks Syndrome 1	Short metatarsal, Holoprosencephaly, Triphalangeal thumb, Atrial septal defect, 2-4 finger syndac...	OMIM:107480
Alexander Disease Type I	Hydrocephalus	ORPHA:363717
Acrorenal-Mandibular Syndrome	Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia	OMIM:200980
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:245200
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly	ORPHA:2770
Trisomy 1Q	Multicystic kidney dysplasia, Cryptorchidism, Hydrocephalus, Congenital megaureter, Hydronephrosi...	ORPHA:261344
Retinitis Pigmentosa 89	Postaxial polydactyly	OMIM:618955
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus	OMIM:613155
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse...	OMIM:607323
Thanatophoric Dysplasia	Hydrocephalus, Abnormality of the kidney, Ventriculomegaly	ORPHA:2655
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Hypospadias, Hydronephrosis, Dandy-Walker malformation	OMIM:220210
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hol...	OMIM:615948
Genitopalatocardiac Syndrome	Cryptorchidism, Hydrocephalus, Multicystic kidney dysplasia, Hypospadias	ORPHA:2075
Holoprosencephaly 1	Ethmocephaly, Single ventricle, Short stature, Alobar holoprosencephaly	OMIM:236100
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Ogden Syndrome	Global glomerulosclerosis, Ventriculomegaly, Cryptorchidism, Hydrocele testis, Polycystic kidney ...	OMIM:300855
3P25.3 Microdeletion Syndrome	Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly...	ORPHA:435638
Temple Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:254516
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad...	OMIM:311900
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Ventricular septal defect, Partial anomalous pulmonary venous return, Growth delay, Atrial septal...	OMIM:301044
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Cryptorchidism, Dilatation of the renal pelvis, Stage 5 chronic kidn...	ORPHA:2044
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Abnormality of the urinary system	ORPHA:2184
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cryptorchidism, Hydrocephalus, Renal hypoplasia, Renal cyst, Colpocephaly, Lateral ventricle dila...	OMIM:210710
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida	OMIM:207950
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Meningocele, Renal cyst, Dandy-Walker malformation	OMIM:614424
Caroli Disease	Polycystic kidney dysplasia	ORPHA:53035
Chromosome 3Pter-P25 Deletion Syndrome	Cryptorchidism, Overlapping toe, Postaxial polydactyly, Tapered finger	OMIM:613792
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Cryptorchidism, Hydrocephalus	ORPHA:2701
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus	OMIM:300558
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Holoprosencephaly 2	Semilobar holoprosencephaly, Single ventricle, Holoprosencephaly, Alobar holoprosencephaly	OMIM:157170
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal...	OMIM:613159
1Q44 Microdeletion Syndrome	Vesicoureteral reflux, Hydrocephalus, Ventriculomegaly, Horseshoe kidney	ORPHA:238769
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly	ORPHA:544254
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Hydrocephalus, Proximal tubulopathy, Hyperechogenic kidneys, Ventricul...	OMIM:614576
Exstrophy-Epispadias Complex	Renal insufficiency, Bladder fistula, Urinary incontinence, Spina bifida, Abnormality of the kidn...	ORPHA:322
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Emanuel Syndrome	Recurrent urinary tract infections, Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Ren...	OMIM:609029
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus	ORPHA:1914
Genitourinary And/Or Brain Malformation Syndrome	Cryptorchidism, Holoprosencephaly	OMIM:618820
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac bones, Preaxial p...	OMIM:616300
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Polysyndactyly With Cardiac Malformation	Hepatic cysts, Renal cyst	OMIM:263630
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Hydrocephalus, Hydronephrosis, Enlarged kidney	OMIM:314390
47,Xyy Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Oligozoospermia, Azoospermia, Macroorchidism, Micropenis	ORPHA:8
Cardioacrofacial Dysplasia 1	Limb undergrowth, Postaxial polydactyly, Genu valgum	OMIM:619142
Fanconi Anemia, Complementation Group R	Hydrocephalus, Pelvic kidney	OMIM:617244
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Syndromic Diarrhea	Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:84064
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Pallister-Hall Syndrome	Holoprosencephaly, Atrial septal defect, Atrioventricular canal defect, Mesoaxial polydactyly, Ra...	ORPHA:672
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patel...	OMIM:603671
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Cryptorchidism, Hydrocephalus, Renal c...	OMIM:257300
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Choroid plexus cyst, S...	OMIM:267010
Verheij Syndrome	Renal agenesis, Renal hypoplasia, Renal cyst	OMIM:615583
Charge Syndrome	Overriding aorta, Ventricular septal defect, Secundum atrial septal defect, Cryptorchidism, Paten...	OMIM:214800
Temple Syndrome	Cryptorchidism, Hydrocephalus, Decreased testicular size	OMIM:616222
Vacterl/Vater Association	Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal ag...	ORPHA:887
Methylcobalamin Deficiency Type Cble	Hemolytic-uremic syndrome, Glomerulopathy, Hydrocephalus, Ventriculomegaly	ORPHA:2169
Roberts Syndrome	Cryptorchidism, Long penis, Polycystic kidney dysplasia	ORPHA:3103
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:225790
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Abnormality of the kidney, Hydrocephalus, Tubulointerstitial nephritis, Enuresis, Dandy-Walker ma...	ORPHA:459061
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:616355
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:615989
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Renal agenesis, Dandy-Walker malformation, Cys...	OMIM:220500
Caroli Syndrome	Abnormality of the kidney, Polycystic kidney dysplasia	ORPHA:480520
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Renal insufficiency, Hydrocephalus, Renal cyst, ...	OMIM:608091
Proboscis Lateralis	Patent ductus arteriosus, Ventricular septal defect, Holoprosencephaly	ORPHA:141099
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
9Q21.13 Microdeletion Syndrome	Cryptorchidism, Hip dysplasia, Polydactyly	ORPHA:531151
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Multicystic kidney dyspla...	OMIM:615287
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Postaxial polydactyly	OMIM:603387
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Ventriculomegaly	OMIM:109120
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Edinburgh Malformation Syndrome	Hydrocephalus	ORPHA:1895
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:370959
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Bilateral cryptorchidism, Central Y-shaped metacarpal, Preaxia...	ORPHA:2754
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial polydactyly, Cryptorchidism, 2-3 toe syndactyly, Postaxial foot polydactyly, Broad dist...	ORPHA:404440
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Vesicoureteral reflux, Micropenis	OMIM:619951
Combined Pituitary Hormone Deficiencies, Genetic Forms	Pituitary dwarfism, Growth delay, Holoprosencephaly, Delayed puberty, Decreased testicular size	ORPHA:95494
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Hydrocephalus, Pelvic kidney, Hydronephrosis, Dandy-Walker malformation	OMIM:613001
Femoral-Facial Syndrome	Renal agenesis, Abnormal renal collecting system morphology, Cryptorchidism, Polycystic kidney dy...	OMIM:134780
Glutaric Acidemia I	Glutaric aciduria, Hydrocephalus, Ketonuria, Lateral ventricle dilatation	OMIM:231670
Emanuel Syndrome	Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Micropenis, Dandy-Wal...	ORPHA:96170
3C Syndrome	Hypoplasia of penis, Hypospadias, Hydrocephalus, Dandy-Walker malformation, Hydronephrosis, Ventr...	ORPHA:7
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Cryptorchidism, Renal cyst, Vesicoureteral...	ORPHA:261494
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Unilateral renal agenesis	ORPHA:1064
Myopathy, Centronuclear, X-Linked	Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis	OMIM:615398
Pentalogy Of Cantrell	Encephalocele, Hypospadias, Renal agenesis, Hydrocephalus, Anencephaly, Renal dysplasia	ORPHA:1335
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Pseudoaminopterin Syndrome	Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia...	ORPHA:221120
Gorlin Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:377
Joubert Syndrome 37	Cryptorchidism, Decreased testicular size, Postaxial polydactyly	OMIM:619185
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Abnormal acetabulum morphology, Postaxial polydactyly, Rhizomelic leg sh...	ORPHA:397715
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Colpocephaly, Hydrocephalus, Ventriculomegaly	OMIM:619833
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Hydrocephalus, Multicystic kidney dysplasia	ORPHA:3301
Trisomy 13	Cryptorchidism, Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral mea...	ORPHA:3378
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
Crouzon Syndrome	Hydrocephalus	ORPHA:207
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Basal Cell Nevus Syndrome 1	Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Irregular ossification of hand ...	OMIM:109400
Multiple Sulfatase Deficiency	Hydrocephalus, Mucopolysacchariduria, Increased CSF protein concentration, Ventriculomegaly	OMIM:272200
Joubert Syndrome With Oculorenal Defect	Encephalocele, Nephropathy, Hydrocephalus, Renal insufficiency	ORPHA:2318
Thoracoabdominal Syndrome	Hydrocephalus, Renal agenesis, Anencephaly, Hypospadias	OMIM:313850
Congenital Sialidosis Type 2	Umbilical hernia, Hydrocephalus, Polydactyly	ORPHA:93400
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Axenfeld-Rieger Syndrome, Type 2	Cryptorchidism, Hydrocephalus, Hypospadias	OMIM:601499
Joubert Syndrome With Renal Defect	Encephalocele, Nephropathy, Hydrocephalus, Renal insufficiency	ORPHA:220497
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ...	OMIM:613154
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Uret...	ORPHA:261265
3-Methylglutaconic Aciduria Type 7	Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst	ORPHA:445038
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Cryptorchidism	ORPHA:1237
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly	OMIM:615219
Oculocerebrocutaneous Syndrome	Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
Mend Syndrome	Overlapping toe, Broad hallux, Long fingers, Cryptorchidism, Hydrocephalus, 2-3 toe syndactyly, P...	OMIM:300960
Thanatophoric Dysplasia Type 1	Hydrocephalus, Abnormality of the kidney, Ventriculomegaly	ORPHA:1860
Bardet-Biedl Syndrome	Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism	ORPHA:110
Fanconi Anemia, Complementation Group B	Hydrocephalus, Renal agenesis, Ventriculomegaly, Micropenis	OMIM:300514
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hydrocephalus, Oligozoospermia, Ovaria...	ORPHA:91348
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Ventriculomegaly, Colpocephaly	OMIM:620156
Hydrolethalus	Cryptorchidism, Hydrocephalus, Anencephaly	ORPHA:2189
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Enuresis, Occipital meningo...	ORPHA:268810
Hec Syndrome	Communicating hydrocephalus, Vaginal hydrocele	ORPHA:2119
Congenital Disorder Of Glycosylation, Type Ib	Proximal tubulopathy, Renal cyst	OMIM:602579
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Hydrocephalus, Met...	OMIM:277400
Pontocerebellar Hypoplasia, Type 7	Cryptorchidism, Hydrocephalus, Ventriculomegaly, Micropenis	OMIM:614969
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil...	OMIM:614527
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Micropenis	OMIM:617822
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Cryptorchidism, Postaxial polydactyly	OMIM:615824
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Myelomeningocele, Hydrocep...	OMIM:258040
Walker-Warburg Syndrome	Hypoplasia of penis, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly	ORPHA:899
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Sacral Defect With Anterior Meningocele	Myeloschisis, Neurogenic bladder, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus trac...	OMIM:600145
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus	OMIM:620157
Fraser Syndrome 3	Hypoplasia of the bladder, Hypoplasia of penis, Hydrocephalus, Ureteral agenesis, Bilateral renal...	OMIM:617667
Peroxisome Biogenesis Disorder 12A (Zellweger)	Renal tubular dysfunction, Hydrocephalus	OMIM:614886
Mosaic Trisomy 9	Hypoplasia of penis, Spina bifida, Cryptorchidism, Horseshoe kidney, Hydronephrosis, Multiple ren...	ORPHA:99776
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Hydronephrosis, Spina bifida	ORPHA:2839
Vacterl With Hydrocephalus	Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Aqueductal stenosis, Cryptorchidism, Hydr...	ORPHA:3412
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Cryptorchidism, Renal cyst, Horseshoe kidney	ORPHA:166035
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Bardet-Biedl Syndrome 1	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ...	OMIM:209900
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:304340
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Colpocephaly, Renal cyst, Renal dysplasia, Ventriculomegaly	OMIM:617260
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	OMIM:612938
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Renal hypoplasia, Renal cyst, Colpocephaly, Vesicoureteral reflux, Hydronep...	OMIM:618460
Tenorio Syndrome	Enuresis, Hydrocephalus, Ventriculomegaly	OMIM:616260
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Renal insufficiency, Multicystic kidney dysplasia, Hydrocephalus, Nephro...	ORPHA:1454
Trisomy 20P	Hypospadias, Abnormality of the kidney, Spina bifida, Cryptorchidism, Abnormality of the ureter, ...	ORPHA:261318
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:60040
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus, Ureteral triplication, Hydronephrosis	OMIM:104350
Griscelli Syndrome	Encephalocele, Hydrocephalus	ORPHA:381
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Cryptorchidism, Hydrocephalus, Hypoplasia of penis, Ventriculomegaly	ORPHA:1812
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Cryptorchidism, Hydrocephalus, Micropenis, Dilated third ventricle, Ventriculomegaly	ORPHA:500055
Adnp Syndrome	Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morphology, Cryptorchidis...	ORPHA:404448
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus, Polycystic ovaries	ORPHA:2969
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney	OMIM:608022
Lowry-Maclean Syndrome	Bilateral cryptorchidism, Hydrocephalus, Hypospadias	ORPHA:2409
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate	ORPHA:90065
Neurooculorenal Syndrome	Hypoplasia of the bladder, Unilateral renal agenesis, Aqueductal stenosis, Cryptorchidism, Hydroc...	OMIM:620305
Gracile Bone Dysplasia	Hydrocephalus, Micropenis	OMIM:602361
Roberts-Sc Phocomelia Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Frontal encephalocele, Long penis, Horseshoe kidney, ...	OMIM:268300
Mosaic Trisomy 1	Renal cortical cysts, Renal cyst, Lateral ventricle dilatation, Micropenis, Penile hypospadias	ORPHA:1692
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, ...	OMIM:302960
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H...	ORPHA:93111
Bardet-Biedl Syndrome 20	Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndactyly, ...	OMIM:619471
Spondylocostal Dysostosis 4, Autosomal Recessive	Neurogenic bladder, Myelomeningocele, Spina bifida occulta, Hydrocephalus	OMIM:613686
Harrod Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
Cystic Echinococcosis	Abnormality of the testis size, Renal cyst, Ovarian cyst, Membranous nephropathy, Hepatic cysts	ORPHA:400
Mirage Syndrome	Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Hydrocephalus, Microphallus, Dec...	OMIM:617053
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Brachydactyly	OMIM:614099
15Q Overgrowth Syndrome	Ureterovesical stenosis, Hydrocephalus, Abnormal renal morphology, Horseshoe kidney, Nephroblasto...	ORPHA:314585
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Dandy-Walker malformation	OMIM:612582
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Toe syndactyly, Cryptorchidism, Split hand, Hand polydactyly, Split foot, Semilobar holoprosencep...	OMIM:129900
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Renal agenesis, Ectopic kidney, Cryptorchidism, Hydrocephalus, Hors...	OMIM:227646
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, Abnormal renal tubule morphology	ORPHA:2720
Renal-Hepatic-Pancreatic Dysplasia 2	Enlarged kidney, Cystic renal dysplasia, Hepatic cysts	OMIM:615415
Orofaciodigital Syndrome V	Unilateral cryptorchidism, Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Postaxi...	OMIM:174300
Peroxisome Biogenesis Disorder 4A (Zellweger)	Renal cyst	OMIM:614862
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia	OMIM:618829
Peutz-Jeghers Syndrome	Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts	ORPHA:2869
Ulbright-Hodes Syndrome	Abnormal penis morphology, Cryptorchidism, Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:3404
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia	OMIM:619980
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Hypoplasminogenemia	Hydrocephalus, Nephrolithiasis, Dandy-Walker malformation	ORPHA:722
Developmental Delay With Or Without Dysmorphic Facies And Autism	Cryptorchidism, Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis...	OMIM:618454
Dextrocardia	Hydrocephalus, Abnormal renal morphology, Abnormality of the ureter	ORPHA:1666
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Dandy-Walker ma...	ORPHA:2059
Campomelia, Cumming Type	Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts	ORPHA:1318
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Micropenis, Pelvic kidney, Hy...	ORPHA:464311
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena...	ORPHA:2322
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Renal cyst	ORPHA:79303
Congenital Disorder Of Glycosylation, Type Ia	Dilated fourth ventricle, Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy	OMIM:212065
Fg Syndrome Type 1	Cryptorchidism, Hydrocephalus, Hypospadias, Ventriculomegaly	ORPHA:93932
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Tarp Syndrome	Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Cr...	ORPHA:2886
Stromme Syndrome	Hydrocephalus, Stillbirth, Preaxial polydactyly	OMIM:243605
Desmosterolosis	Hydrocephalus, Renal agenesis, Ventriculomegaly, Renal hypoplasia/aplasia	ORPHA:35107
Joubert Syndrome 1	Enlarged fossa interpeduncularis, Nephropathy, Renal cyst, Occipital myelomeningocele	OMIM:213300
Penile Agenesis	Urethral atresia, male, Hydroureter, Cryptorchidism, Fetal pyelectasis, Bilateral renal hypoplasi...	ORPHA:49
Intellectual Developmental Disorder, Autosomal Dominant 65	Noncommunicating hydrocephalus	OMIM:619320
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
H Syndrome	Abnormality of the kidney, Hydrocephalus, Azoospermia, Micropenis, Decreased testicular size, Enl...	ORPHA:168569
Kinsship Syndrome	Death in infancy, Single transverse palmar crease, Coxa valga, Hip dislocation, Fibular hypoplasi...	OMIM:619297
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hydrocephalus, Abnormal renal morphology	OMIM:239300
Miller-Dieker Lissencephaly Syndrome	Single transverse palmar crease, Cryptorchidism, Deep palmar crease, Polydactyly, Camptodactyly, ...	OMIM:247200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus	OMIM:615249
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:618476
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Glutaric aciduria, Chronic kidney disease, Subependymal nodules, Ven...	ORPHA:25
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypoplasia, Short lo...	OMIM:617925
Multiple Sulfatase Deficiency	Hydrocephalus, Mucopolysacchariduria	ORPHA:585
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Micropenis, Pelvic kidney, Hy...	ORPHA:464306
Mody	Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria	ORPHA:552
Rubinstein-Taybi Syndrome 1	Single transverse palmar crease, Bilateral cryptorchidism, Hypoplastic iliac wing, Prominent fing...	OMIM:180849
Zellweger Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis	ORPHA:912
Mucopolysaccharidosis, Type Ii	Heparan sulfate excretion in urine, Hydrocephalus, Urinary glycosaminoglycan excretion, Dermatan ...	OMIM:309900
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Gland...	ORPHA:2473
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus	OMIM:259710
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, Short foot, Hip dysplasia	OMIM:300968
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Ventriculomegaly	ORPHA:261197
2P15P16.1 Microdeletion Syndrome	Decreased testicular size, Multicystic kidney dysplasia, Hydronephrosis, Ventriculomegaly	ORPHA:261349
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Testicular neoplasm, Nephrolithiasis, Renal cyst, Hypercalc...	ORPHA:99880
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus, Abnormal renal morphology	OMIM:207410
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly	OMIM:616538
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Ventriculomegaly, Unilateral renal agenesis, Ovarian cyst, Enlarged ...	OMIM:618188
Lateral Meningocele Syndrome	Cryptorchidism, Hydrocephalus, Meningocele, Neurogenic bladder	OMIM:130720
Thanatophoric Dysplasia, Type I	Hydrocephalus	OMIM:187600
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Cryptorchidism, Hydrocephalus	ORPHA:1865
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Absent outer dynein arms	OMIM:244400
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Peho Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:2836
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus	OMIM:612940
3Mc Syndrome 3	Radioulnar synostosis, Clinodactyly, Preaxial polydactyly, Cryptorchidism	OMIM:248340
Choanal Atresia	Polydactyly	ORPHA:137914
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Lateral ventricle dilatation	OMIM:612863
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
1Q21.1 Microdeletion Syndrome	Vesicoureteral reflux, Cryptorchidism, Hydrocephalus, Hydronephrosis	ORPHA:250989
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Testicular neoplasm, Nephrolithiasis, Renal cyst, Hypercalc...	ORPHA:143
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Ectopic kidney, Cryptorchidism, Abnormal renal morphology, Vesicoureter...	OMIM:122470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Cryptorchidism, Dandy-Walker malfor...	OMIM:236670
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Tuberous Sclerosis 1	Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Subependymal nodules	OMIM:191100
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
Au-Kline Syndrome	Overlapping toe, Postaxial polydactyly, Coxa valga, Cryptorchidism, Lipomyelomeningocele, Deep pa...	OMIM:616580
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Renal cyst, Renal cell carcinoma, Subependymal...	OMIM:613254
Joubert Syndrome	Encephalocele, Hydrocephalus	ORPHA:475
Osteootohepatoenteric Syndrome	Hydrocephalus, Proteinuria, Grade II vesicoureteral reflux	OMIM:619377
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Hydrocephalus, Hematuria, Multiple renal cysts, Renal ang...	ORPHA:538
Carpenter Syndrome 2	Short digit, Single transverse palmar crease, Postaxial polydactyly, Bilateral cryptorchidism, Cr...	OMIM:614976
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia	ORPHA:3015
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Nephrocalcinosis, Aminoaciduria	OMIM:616084
Primary Ciliary Dyskinesia	Hydrocephalus, Ventriculomegaly	ORPHA:244
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Hydrocephalus, Urinary incontinence	OMIM:616482
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus	OMIM:224400
Monosomy 9Q22.3	Palmar pits, Umbilical hernia, Hydrocephalus, Polydactyly	ORPHA:77301
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly	ORPHA:314655
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Homocystinuria, Ventriculomegaly	ORPHA:395
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Clinodactyly of the 5th finger	ORPHA:457284
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of the urinary system, Congenital megau...	ORPHA:369837
Culler-Jones Syndrome	Cryptorchidism, Postaxial polydactyly	OMIM:615849
Transketolase Deficiency	Increased level of ribose in urine, Renal cyst	ORPHA:488618
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cyst, Nephronophthi...	OMIM:266920
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Renal cyst, Nephritis	OMIM:208500
Joubert Syndrome With Ocular Defect	Encephalocele, Hydrocephalus	ORPHA:220493
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus	ORPHA:93259
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus	OMIM:259700
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Hydrocephalus, Nephrotic syndrome, Heavy protein...	ORPHA:505248
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Renal cyst, Horseshoe kidney	OMIM:250410
Cerebrooculonasal Syndrome	Encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial polydactyly	OMIM:605627
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Long fingers, Palmopl...	OMIM:617527
Acrodysostosis 1 With Or Without Hormone Resistance	Cryptorchidism, Hydrocephalus, Unilateral renal agenesis	OMIM:101800
Knobloch Syndrome	Vesicoureteral reflux, Occipital encephalocele, Hydrocephalus, Bifid ureter	ORPHA:1571
Hurler Syndrome	Heparan sulfate excretion in urine, Hydrocephalus, Urinary glycosaminoglycan excretion, Dermatan ...	OMIM:607014
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly	ORPHA:1393
7Q11.23 Microduplication Syndrome	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Enuresis, Hydronephrosis, ...	ORPHA:96121
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Achondroplasia	Hydrocephalus	ORPHA:15
Mucopolysaccharidosis, Type Vii	Heparan sulfate excretion in urine, Hydrocephalus, Urinary glycosaminoglycan excretion, Dermatan ...	OMIM:253220
Helsmoortel-Van Der Aa Syndrome	Broad hallux, Sandal gap, Tapered finger, Cryptorchidism, Small hand, Genu valgum, Polydactyly, C...	OMIM:615873
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s...	ORPHA:573278
Adams-Oliver Syndrome	Encephalocele, Hydrocephalus	ORPHA:974
Tetrasomy 5P	Hydrocephalus	ORPHA:3309
Coccidioidomycosis	Renal insufficiency, Abnormal sperm morphology, Abnormality of the kidney, CSF pleocytosis, Hydro...	ORPHA:228123
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Vater/Vacterl Association	Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Hypoplasia of the ...	OMIM:192350
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocele testis, Hydrocephalus, Ventriculomegaly	OMIM:613603
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:614643
Dural Sinus Malformation	Myelopathy, Hydrocephalus	ORPHA:97339
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:1555
Crouzon Syndrome	Hydrocephalus	OMIM:123500
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Fanconi Anemia	Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Spina bifida, ...	ORPHA:84
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus	OMIM:616914
Chromosome 17P13.1 Deletion Syndrome	Hydrocele testis, Hydrocephalus, Spina bifida	OMIM:613776
Beare-Stevenson Cutis Gyrata Syndrome	Hydrocephalus, Hypospadias, Ventriculomegaly	OMIM:123790
Fanconi Anemia, Complementation Group L	Hydrocephalus, Renal hypoplasia, Unilateral renal agenesis, Micropenis	OMIM:614083
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Nephroblastoma	ORPHA:1001
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Ventriculomegaly	OMIM:613150
Monosomy 18Q	Bilateral cryptorchidism, Hydrocephalus, Micropenis	ORPHA:1600
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Renal cyst	OMIM:601539
Cardiofaciocutaneous Syndrome 1	Hydrocephalus, Hydronephrosis	OMIM:115150
Genitopatellar Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hydronephrosis	ORPHA:85201
Cardiofaciocutaneous Syndrome	Cryptorchidism, Hydrocephalus, Hydronephrosis	ORPHA:1340
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Renal tubular acidosis, Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619575
Cousin Syndrome	Hydranencephaly, Hydrocephalus, Hydronephrosis	OMIM:260660
Trisomy 8P	Cryptorchidism, Hydrocephalus, Fetal pyelectasis, Nephrocalcinosis, Micropenis, Hydronephrosis, D...	ORPHA:264450
D-Bifunctional Protein Deficiency	Renal cyst, Ventriculomegaly	OMIM:261515
Von Hippel-Lindau Syndrome	Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst	OMIM:193300
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Ectopic kidney	ORPHA:268249
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus	OMIM:620351
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus	OMIM:618590
Rabin-Pappas Syndrome	Hydrocephalus	OMIM:620155
Apert Syndrome	Cryptorchidism, Hydrocephalus, Hydronephrosis, Ventriculomegaly	OMIM:101200
Thakker-Donnai Syndrome	Communicating hydrocephalus, Hydronephrosis	ORPHA:1780
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypospadias, Unilateral renal agenesis, Enlarged polycystic ovaries, Cryptorchidism, Hydrocephalu...	ORPHA:95699
Histiocytoid Cardiomyopathy	Hydrocephalus, Renal cyst, Polycystic ovaries	ORPHA:137675
Whipple Disease	Hydrocephalus	ORPHA:3452
Apert Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:87
Pagod Syndrome	Encephalocele, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia, Meningocele,...	ORPHA:991
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Glomerulopathy, Renal insufficiency, Ketonuria, Hemolytic-uremic syndrome, Hydrocephalus, Methylm...	ORPHA:79282
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia, Horseshoe kidney, Hydroneph...	ORPHA:2092
Dubowitz Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Spina bifida occulta, Hydronephrosis	ORPHA:235
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Hyperechogenic kidneys, Renal cyst	OMIM:615636
Raine Syndrome	Hydrocephalus, Hydroureter, Hydronephrosis	OMIM:259775
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Hydrocephalus, Colpocephaly, Chordee, Micropenis	OMIM:309801
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypospadias, Cryptorchidism, Renal cyst, Vesicoureteral reflux, Ventriculomegaly	OMIM:616975
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Micropenis, Hydronephrosis	ORPHA:163979
Lhermitte-Duclos Disease	Hydrocephalus	ORPHA:65285
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly	ORPHA:163681
Schinzel-Giedion Syndrome	Hypospadias, Abnormality of the ureter, Choroid plexus cyst, Renal cyst, Micropenis, Nephrolithia...	ORPHA:798
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Polydactyly, Abnormal mitochondrial shape	ORPHA:17
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts	OMIM:618733
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia	OMIM:617107
Alveolar Echinococcosis	Pancreatic cysts, Abnormal bladder morphology, Hepatic cysts, Renal cyst	ORPHA:284
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Lateral ventricle dilatation, Normal pressure hydrocephalus	ORPHA:300570
Cranioectodermal Dysplasia 2	Syndactyly, Rhizomelia, Postaxial hand polydactyly, Polydactyly, Mesomelia, Clinodactyly, Brachyd...	OMIM:613610
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Fetal pyelectasis	OMIM:619512
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Fryns Syndrome	Ureteral duplication, Hypospadias, Renal agenesis, Cryptorchidism, Renal cyst, Hydronephrosis, Da...	OMIM:229850
Opitz-Kaveggia Syndrome	Cryptorchidism, Hydrocephalus, Hypospadias	OMIM:305450
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent urinary tract infections, Hypospadias, Spina bifida, Testicular neoplasm, Cryptorchidis...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent urinary tract infections, Hypospadias, Spina bifida, Testicular neoplasm, Cryptorchidis...	ORPHA:363958
Mucopolysaccharidosis Type 1	Hydrocephalus, Mucopolysacchariduria	ORPHA:579
Osteopathia Striata With Cranial Sclerosis	Hydrocephalus, Spina bifida occulta, Multicystic kidney dysplasia	OMIM:300373
Oculocerebrorenal Syndrome Of Lowe	Glomerulopathy, Renal insufficiency, Proteinuria, Cryptorchidism, Proximal renal tubular acidosis...	ORPHA:534
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus	OMIM:616007
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Renal cyst	OMIM:617478
Aymé-Gripp Syndrome	Cryptorchidism, Hydrocephalus, Proteinuria, Ventriculomegaly	ORPHA:1272
Kaposiform Lymphangiomatosis	Pancreatic cysts, Multiple renal cysts, Enlarged kidney	ORPHA:464329
Osteopetrosis, Autosomal Recessive 5	Hydrocephalus, Ventriculomegaly	OMIM:259720
Desmosterolosis	Hydrocephalus, Ventriculomegaly	OMIM:602398
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Hydrocephalus	OMIM:245600
Hurler Syndrome	Hydrocephalus, Mucopolysacchariduria	ORPHA:93473
Shprintzen-Goldberg Craniosynostosis Syndrome	Cryptorchidism, Hydrocephalus	OMIM:182212
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Renal artery stenosis, Spina bifida	OMIM:162200
Atelosteogenesis Type I	Multiple renal cysts	ORPHA:1190
Loeys-Dietz Syndrome 2	Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Hydrocephalus, Absent dis...	OMIM:610168
Alexander Disease	Aqueductal stenosis, Hydrocephalus	ORPHA:58
Heterotaxy, Visceral, 1, X-Linked	Renal agenesis, Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Horseshoe kidney, Enlarged ...	OMIM:306955
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Tapered finger, Abnormal toe morphology, Cryptorchidism, Polydactyly, 2-4 toe cuta...	ORPHA:268261
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Horseshoe kidney, Crossed...	ORPHA:2538
Mucopolysaccharidosis Type 3	Heparan sulfate excretion in urine, Hydrocephalus, Urinary glycosaminoglycan excretion, Mucopolys...	ORPHA:581
Achondroplasia	Hydrocephalus	OMIM:100800
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Mohr Syndrome	Hydrocephalus	OMIM:252100
Acrocephalopolydactylous Dysplasia	Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Simpson-Golabi-Behmel Syndrome, Type 1	Short palm, Broad toe, Postaxial polydactyly, Cryptorchidism, Postaxial hand polydactyly, Hydroce...	OMIM:312870
Tetrasomy 9P	Renal dysplasia, Recurrent urinary tract infections, Cryptorchidism, Hydrocephalus, Horseshoe kid...	ORPHA:3310
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Renal neoplasm, Hydrocephalus	ORPHA:536467
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Pearson Syndrome	Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Increased CSF lactate, Glycosuria	ORPHA:699
Marshall-Smith Syndrome	Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Ventriculomegaly	OMIM:602535
Medulloblastoma	Hydrocephalus	ORPHA:616
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus, Enlarged kidney	OMIM:261740
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph...	OMIM:149730
Hajdu-Cheney Syndrome	Hydrocephalus, Hypospadias, Multiple renal cysts	ORPHA:955
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Hydrocephalus, Dermatan sulfate excretion in urine	OMIM:253200
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus, Neurogenic bladder	ORPHA:137667
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus	ORPHA:220295
Degcags Syndrome	Syndactyly, Toe syndactyly, Short thumb, Preaxial hand polydactyly, Cryptorchidism, Genu valgum, ...	OMIM:619488
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Decreased testicular size, Hydrocephalus, Renal hypoplasia, Micropenis	OMIM:619321
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Spina bifida occul...	ORPHA:500095
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Postaxial hand polydactyly, Cone-shaped epiphysis, Short long bone, Short ...	OMIM:617088
Rabson-Mendenhall Syndrome	Polydactyly	ORPHA:769
Spondyloepimetaphyseal Dysplasia, Krakow Type	Hydrocephalus	OMIM:618162
Limb Body Wall Complex	Encephalocele, Abnormality of the kidney, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph...	ORPHA:2369
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Hydrocephalus, Unilateral renal agenesis	OMIM:154400
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter...	ORPHA:373
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Hypospadias, Epispadias, Hydrocephalus, Cryptorchidism	ORPHA:2658
Jacobsen Syndrome	Multicystic kidney dysplasia, Spina bifida, Cryptorchidism, Hydronephrosis, Ventriculomegaly	ORPHA:2308
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Syndactyly, Broad hallux, Deviation of the hallux, Avascular necrosis of the capital femoral epip...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Syndactyly, Broad hallux, Deviation of the hallux, Avascular necrosis of the capital femoral epip...	ORPHA:353277
Fraser Syndrome 1	Encephalocele, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Myelomeningocele, Hydroceph...	OMIM:219000
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis,...	ORPHA:2750
Faciocardiomelic Syndrome	Slender long bone, Polydactyly, Hypoplastic pelvis	OMIM:612731
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Postaxial polydactyly, Cryptorchidism, Hip dysplasia, Branchial anomaly, Talipes equinovarus	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Postaxial polydactyly, Cryptorchidism, Hip dysplasia, Branchial anomaly, Talipes equinovarus	ORPHA:352665
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit...	OMIM:607932
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto...	ORPHA:709
Sturge-Weber Syndrome	Hydrocephalus	ORPHA:3205
Tetraamelia Syndrome 1	Urethral atresia, Hydrocephalus, Renal agenesis	OMIM:273395
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Cryptorchidism, Ventriculomegaly	ORPHA:2462
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hydronep...	ORPHA:1606
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Renal hypoplasia, Renal cyst, Dandy-...	ORPHA:93271
Distal 22Q11.2 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Unilateral renal agenesis	ORPHA:261337
Legius Syndrome	Clinodactyly of the 5th finger, Polydactyly, Diaphyseal dysplasia	ORPHA:137605
Isotretinoin-Like Syndrome	Hydrocephalus	ORPHA:2306
Microphthalmia With Limb Anomalies	Cryptorchidism, Hydrocephalus, Horseshoe kidney	ORPHA:1106
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Cryptorchidism, Renal cyst, Hypospadias, Dandy-Walker malformation	ORPHA:495875
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hypospadias, Hydrocephalus, Hematuria, Micropenis, Decreased CSF 5-methyltetrahydrofolate concent...	OMIM:619475
Alagille Syndrome 1	Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas...	OMIM:118450
Campomelic Dysplasia	Hypospadias, Spina bifida, Hydrocephalus, Spinal dysraphism, Hydronephrosis	OMIM:114290
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Hypoglycorrhachia	ORPHA:168577
Autosomal Recessive Robinow Syndrome	Cryptorchidism, Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis	ORPHA:1507
Mend Syndrome	Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	ORPHA:401973
Cockayne Syndrome A	Renal insufficiency, Proteinuria, Cryptorchidism, Normal pressure hydrocephalus, Micropenis, Vent...	OMIM:216400
Trisomy 10P	Multiple renal cysts, Abnormality of the kidney, Dandy-Walker malformation	ORPHA:171929
Cerebrocostomandibular Syndrome	Horseshoe kidney, Renal cyst, Ectopic kidney	OMIM:117650
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Pancreatic cysts, Renal cell carcinoma, Multiple renal cyst...	ORPHA:892
Kabuki Syndrome 1	Crossed fused renal ectopia, Cryptorchidism, Hydrocephalus, Micropenis, Lateral ventricle dilatat...	OMIM:147920
Osteogenesis Imperfecta	Hydrocephalus, Nephrolithiasis, Noncommunicating hydrocephalus, Hypercalciuria, Ventriculomegaly	ORPHA:666
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cryptorchidism, Nephrolithiasis, Hypercalciuria, Congenital megaureter, Mul...	ORPHA:116
Craniopharyngioma	Hydrocephalus	ORPHA:54595
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Focal Dermal Hypoplasia	Ureteral duplication, Cryptorchidism, Hydrocephalus, Myelomeningocele, Horseshoe kidney, Bifid ur...	OMIM:305600
Mullegama-Klein-Martinez Syndrome	Clinodactyly of the 5th finger, Polydactyly	OMIM:301022
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Recurrent urinary tract infections, Crossed fused renal ectopia, Hyp...	OMIM:619841
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Hypospadias, Epispadias, Hydrocephalus, Abnormal testis morphology	ORPHA:2556
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Recurrent urinary tract infections, Oligosacchariduria	ORPHA:309282
Gaucher Disease	Hematuria, Hydrocephalus, Proteinuria, Ventriculomegaly	ORPHA:355
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hallux valgus, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly, Tapered finger...	ORPHA:480880
Distal Deletion 15Q	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal localization of kidney, Micro...	ORPHA:1596
Robinow Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Webbed penis, Micropenis, Hydronephrosis	ORPHA:97360
Cockayne Syndrome B	Renal insufficiency, Proteinuria, Cryptorchidism, Normal pressure hydrocephalus, Micropenis	OMIM:133540
Williams Syndrome	Hypercalciuria, Recurrent urinary tract infections, Hypoplasia of penis, Renal insufficiency, Pro...	ORPHA:904
Spondylocarpotarsal Synostosis Syndrome	Renal cyst	OMIM:272460
Cryptococcosis	Hydrocephalus	ORPHA:1546
Biliary, Renal, Neurologic, And Skeletal Syndrome	Syndactyly, Postaxial polydactyly, Aqueductal stenosis, Hydrocephalus, Broad first metatarsal, Po...	OMIM:619534
Fraser Syndrome	Encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, My...	ORPHA:2052
Cutis Marmorata Telangiectatica Congenita	Displacement of the urethral meatus, Multicystic kidney dysplasia	ORPHA:1556
Neurocardiofaciodigital Syndrome	Syndactyly, Polydactyly	OMIM:619869
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus	ORPHA:637
Yunis-Varon Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Renovascular hypertension, Renal artery stenosis, Mic...	ORPHA:3472
Meningioma	Hydrocephalus, Urinary incontinence	ORPHA:2495
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Ventriculomegaly	OMIM:617011
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Micropenis, Ventriculomegaly	ORPHA:457359
Costello Syndrome	Renal insufficiency, Hydrocephalus, Ventriculomegaly	OMIM:218040
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Azoospermia, Hydrocephalus, Ventriculomegaly	ORPHA:2072
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydrocephalus, Abnormal renal morphology, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:363700
Fontaine Progeroid Syndrome	Cryptorchidism, Hydrocephalus, Micropenis	OMIM:612289
Neurofibromatosis Type 1	Cryptorchidism, Hydrocephalus, Abnormality of the upper urinary tract	ORPHA:636
Wiedemann-Rautenstrauch Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Long penis, Dandy-Walker malformation	OMIM:264090
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,...	ORPHA:857
Wiedemann-Rautenstrauch Syndrome	Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Hydrocephalus, Wide penis, Vesic...	ORPHA:3455
Wolf-Hirschhorn Syndrome	Cryptorchidism, Hydrocephalus, Hypospadias, Ventriculomegaly	OMIM:194190
Chromosome 1P36 Deletion Syndrome, Distal	Hypospadias, Ectopic kidney, Cryptorchidism, Hydrocephalus, Lateral ventricle dilatation	OMIM:607872
Cornelia De Lange Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal insufficiency, Cryptorchidi...	ORPHA:199
Peters-Plus Syndrome	Ureteral duplication, Hypospadias, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Hydronephrosi...	OMIM:261540
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Cryptorchid...	OMIM:308205
C Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia	ORPHA:1308
Hydrolethalus Syndrome 1	Hypospadias, Anencephaly, Severe hydrocephalus, Hydronephrosis, Dandy-Walker malformation	OMIM:236680
Baller-Gerold Syndrome	Hydrocephalus, Spina bifida occulta, Abnormality of the kidney	OMIM:218600
Okamoto Syndrome	Hip dysplasia, Polydactyly	ORPHA:2729
Otopalatodigital Syndrome, Type Ii	Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Hydronephrosis	OMIM:304120
Proteus Syndrome	Testicular neoplasm, Enlarged polycystic ovaries, Long penis, Renal cyst, Macroorchidism	ORPHA:744
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Ventriculomegaly	OMIM:253280
Autosomal Recessive Malignant Osteopetrosis	Hydrocephalus	ORPHA:667
Alobar Holoprosencephaly	Neural tube defect, Hydrocephalus	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Neural tube defect, Hydrocephalus	ORPHA:93926
Lobar Holoprosencephaly	Neural tube defect, Hydrocephalus	ORPHA:93924
Semilobar Holoprosencephaly	Neural tube defect, Hydrocephalus	ORPHA:220386
Fetal Akinesia Deformation Sequence 1	Cryptorchidism, Hydrocephalus	OMIM:208150
Coffin-Siris Syndrome 12	Cryptorchidism, Hypospadias, Noncommunicating hydrocephalus, Horseshoe kidney	OMIM:619325
Genitopatellar Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Colpocephaly, Micropenis, Hydronephrosis	OMIM:606170
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Bilateral cryptorchidism, Hydrocephalus	ORPHA:3042
Loeys-Dietz Syndrome 1	Hydrocephalus	OMIM:609192
Craniofacial Microsomia 1	Occipital encephalocele, Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Hydrocepha...	OMIM:164210
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Crypt...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Cryptorchidism, Hydrocele testis...	ORPHA:261537
Mucopolysaccharidosis Type 2	Communicating hydrocephalus	ORPHA:580
Branchiooculofacial Syndrome	Cryptorchidism, Renal agenesis, Hypospadias, Renal cyst	OMIM:113620
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Cryptorchidism, Hydrocele testis...	ORPHA:261552
Pallister-Killian Syndrome	Hypospadias, Cryptorchidism, Renal cyst, Renal dysplasia, Ventriculomegaly	OMIM:601803
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus	OMIM:175780
Pmm2-Cdg	Proteinuria, Nephrotic syndrome, Multiple renal cysts, Decreased testicular size, Dandy-Walker ma...	ORPHA:79318
Spinocerebellar Ataxia Type 11		ORPHA:98767
Spinocerebellar Ataxia 11		OMIM:604432

Histopathology

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

There is no histopathology data for Ttbk2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ttbk2.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
TTBK2 controls cilium stability by regulating distinct modules of centrosomal proteins.	Molecular biology of the cell (November 2022)	Ttbk2^{tm1c(EUCOMM)Hmgu}	PMC9816645
TTBK2 and primary cilia are essential for the connectivity and survival of cerebellar Purkinje neurons.	eLife (January 2020)	Ttbk2^{tm1c(EUCOMM)Hmgu} Ttbk2^{tm1a(EUCOMM)Hmgu}	PMC7028366
Spinocerebellar ataxia type 11-associated alleles of Ttbk2 dominantly interfere with ciliogenesis and cilium stability.	PLoS genetics (December 2018)	Ttbk2^{tm1a(EUCOMM)Hmgu}	PMC6307817

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ttbk2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Ttbk2^em1(IMPC)J	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ttbk2 MGI:2155779

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Electroretinography 3

X-ray

Eye Morphology

X-ray

X-ray

X-ray

Electrocardiogram (ECG)

Auditory Brain Stem Response

Human diseases caused by Ttbk2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data