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

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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 Whole Body Dorso Ventral

8 Images

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X-ray

XRay Images Forepaw

8 Images

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Electroretinography 3

Fundus file

11 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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X-ray

XRay Images Skull Lateral Orientation

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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Eye Morphology

Images Ophthalmoscopy

4 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 (905 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	Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t...	ORPHA:93403
Syndactyly, Type Iv	Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy...	OMIM:186200
Triphalangeal Thumb, Nonopposable	Triphalangeal thumb, Polydactyly	OMIM:190600
Hydrocephalus, Congenital, 1	Ventriculomegaly, Hydrocephalus	OMIM:236600
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo...	OMIM:174500
Microhydranencephaly, X-Linked	Intrauterine growth retardation, Holoprosencephaly	OMIM:306990
Synpolydactyly 1	Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial...	OMIM:186000
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti...	OMIM:617610
Brachydactyly, Type C	Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha...	OMIM:113100
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited...	ORPHA:3269
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Triphalangeal Thumb With Polysyndactyly	Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po...	OMIM:190605
Polycystic Kidney Disease 7	Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ...	OMIM:620056
Meckel Syndrome, Type 11	Polycystic kidney dysplasia, Occipital encephalocele	OMIM:615397
Renal Dysplasia, Cystic, Susceptibility To	Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal...	OMIM:601331
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Polydactyly, Postaxial, Type A1	Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han...	OMIM:174200
Polydactyly, Postaxial, Type A10	Postaxial foot polydactyly, Postaxial polydactyly type A, Postaxial hand polydactyly	OMIM:618498
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Camptosynpolydactyly, Complex	Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly	OMIM:607539
Vissers-Bodmer Syndrome	Short stature, Intrauterine growth retardation, Holoprosencephaly	OMIM:619033
Nephronophthisis 14	Nephronophthisis, Polycystic kidney dysplasia	OMIM:614844
Hallux Varus And Preaxial Polysyndactyly	Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly	OMIM:234280
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi...	OMIM:618167
Holoprosencephaly 5	Alobar holoprosencephaly, Semilobar holoprosencephaly, Syntelencephaly, Hydrocephalus, Holoprosen...	OMIM:609637
Congenital Absence Of Upper Arm And Forearm With Hand Present	Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Stillbirth, Syndactyly	ORPHA:294975
Acalvaria	Holoprosencephaly, Hydrocephalus, Spina bifida	ORPHA:945
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome	Holoprosencephaly	ORPHA:2523
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Santos Syndrome	Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi...	OMIM:613005
Nephronophthisis 20	Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren...	OMIM:617271
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Holoprosencephaly, Hydrocephalus	OMIM:617967
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Polydactyly, Preaxial Iii	Triphalangeal thumb, Preaxial polydactyly	OMIM:174600
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr...	OMIM:617805
Syndactyly Type 4	Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot...	ORPHA:93405
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Mental retardation, x-linked, syndromic, Turner type	Holoprosencephaly	OMIM:300706
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati...	OMIM:618061
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Ventriculomegaly, Hydrocephalus	OMIM:615938
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Nephronophthisis 16	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi...	OMIM:615382
Meckel Syndrome 13	Polycystic kidney dysplasia, Occipital encephalocele	OMIM:617562
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	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
Jawad Syndrome	Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal crease of fifth ...	OMIM:251255
Microphthalmia/Coloboma 5	Holoprosencephaly	OMIM:611638
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t...	ORPHA:488232
Polydactyly, Postaxial, Type A5	Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly	OMIM:263450
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Ventriculomegaly, Hydrocephalus	OMIM:615937
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd...	ORPHA:1892
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Tetralogy of Fallot, Intrauterine growth retardation, Situs inversus totalis, ...	ORPHA:1908
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Acropectoral Syndrome	Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly	OMIM:605967
Pineocytoma	Increased CSF protein concentration, Hydrocephalus	ORPHA:251912
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly, Occipital encephalocele	OMIM:213010
Bardet-Biedl Syndrome 5	Syndactyly, Brachydactyly, Polydactyly	OMIM:615983
Hartsfield Syndrome	Intrauterine growth retardation, Encephalocele, Lobar holoprosencephaly	ORPHA:2117
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Holoprosencephaly, Anterior encephalocele, Ventricular septal defect	OMIM:601357
Distal Deletion 13Q	Encephalocele, Abnormal cardiac septum morphology, Short stature, Holoprosencephaly, Anencephaly	ORPHA:1590
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Hepatic cysts	OMIM:600666
Synpolydactyly 2	Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Bardet-Biedl Syndrome 10	Renal cyst, Renal insufficiency	OMIM:615987
Lambotte Syndrome	Intrauterine growth retardation, Semilobar holoprosencephaly, Ventricular septal defect	OMIM:245552
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Intrauterine growth retardation, Hydranencephaly, Holoprosencephaly	ORPHA:2570
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Ring Chromosome 21 Syndrome	Short stature, Azoospermia, Holoprosencephaly, Abnormal heart morphology	ORPHA:1445
Muscle-Eye-Brain Disease	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:588
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Atrial septal defect, Short stature, Holoprosencephaly, Patent duct...	ORPHA:93274
Meckel Syndrome, Type 8	Occipital encephalocele, Hyperechogenic kidneys, Encephalocele, Polycystic kidney dysplasia, 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	Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Polycystic kidney dysplasia, Ren...	OMIM:145001
Holoprosencephaly 11	Holoprosencephaly	OMIM:614226
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Holoprosencephaly, Hydrocephalus	ORPHA:2182
Split-Foot Malformation With Mesoaxial Polydactyly	Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot	OMIM:616890
Bardet-Biedl Syndrome 7	2-3 toe syndactyly, Postaxial polydactyly, Clinodactyly, Polydactyly	OMIM:615984
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts	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	Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Hydroce...	OMIM:615862
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ventriculomegaly, Hydrocephalus	OMIM:618709
Triploidy	Intrauterine growth retardation, Hydrocephalus, Abnormal cardiac septum morphology, Meningocele, ...	ORPHA:3376
Polydactyly, Postaxial, Type A7	Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous...	OMIM:617642
Distal Monosomy 7Q36	Short stature, Holoprosencephaly	ORPHA:1636
Chudley-Mccullough Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:604213
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Hepatic cysts,...	OMIM:263200
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Postaxial Oligodactyly, Tetramelic	Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-...	OMIM:176240
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Hydrocephalus, Congenital, 4	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Bardet-Biedl Syndrome 16	Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Renal dysplasia	OMIM:615993
Femoral-Facial Syndrome	Ventriculomegaly, Long penis, Renal hypoplasia/aplasia, Abnormal localization of kidney, Polycyst...	ORPHA:1988
Meckel Syndrome, Type 9	Multicystic kidney dysplasia, Occipital encephalocele	OMIM:614209
Ventriculomegaly With Defects Of The Radius And Kidney	Ventriculomegaly, Renal agenesis, Lateral ventricle dilatation, Horseshoe kidney, Hydrocephalus, ...	OMIM:602200
Carpenter Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Genu...	ORPHA:65759
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia	OMIM:614859
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic ...	OMIM:613095
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Ventricular septal defect, Hydrocephalus, Holoprosencephaly, Growth delay, Patent ductus arteriosus	ORPHA:77298
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Orofaciodigital Syndrome Xviii	Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ...	OMIM:617927
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Joubert Syndrome 16	Renal cyst, Nephronophthisis, Encephalocele, Dandy-Walker malformation	OMIM:614465
Holoprosencephaly, Semilobar, With Craniosynostosis	Short distal phalanx of finger, Semilobar holoprosencephaly, Coxa valga	OMIM:601370
Medullary cystic kidney disease 2	Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedu...	OMIM:603860
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Peroxisome Biogenesis Disorder 6A (Zellweger)	Renal cyst, Colpocephaly	OMIM:614870
Microtia-Anotia	Holoprosencephaly	OMIM:600674
Agnathia-Otocephaly Complex	Holoprosencephaly, Secundum atrial septal defect, Situs inversus totalis	OMIM:202650
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Ventriculomegaly, Hyperechogenic kidneys, Choroid plexus cyst, Hydrocephalus, Polycystic kidney d...	OMIM:617866
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl...	ORPHA:2378
Nevus Comedonicus Syndrome	Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta	ORPHA:64754
Chromosome 3Q13.31 Deletion Syndrome	Alobar holoprosencephaly	OMIM:615433
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Monosomy 18P	Short stature, Holoprosencephaly	ORPHA:1598
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia, Dandy-Walker malformation	ORPHA:3032
Radial Aplasia, X-Linked	Hydrocephalus, Penile hypospadias	OMIM:312190
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Meckel Syndrome, Type 3	Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, Hydrocephalus, Postaxial hand p...	OMIM:607361
1Q41Q42 Microdeletion Syndrome	Short stature, Holoprosencephaly, Growth delay	ORPHA:250999
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Distal Triplication 15Q	Dilatation of the renal pelvis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Hydrocephalus, ...	ORPHA:314588
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Dilated cardiomyopathy, Encephalocele, Transposition of the great arteries, Hydrocephalus, Atrial...	OMIM:253800
Neural Tube Defects, Susceptibility To	Myelomeningocele, Hydrocephalus, Urinary incontinence, Spina bifida occulta, Anencephaly	OMIM:182940
Trisomy 17P	Hydronephrosis, Hydrocephalus, Hypoplasia of penis, Urethral valve, Polycystic kidney dysplasia, ...	ORPHA:261290
Bardet-Biedl Syndrome 4	Syndactyly, Brachydactyly, Polydactyly	OMIM:615982
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Stage 5 chronic kidney disease, Myoglobinuria, Renal tubular epithelial necrosis...	ORPHA:157
Pseudotrisomy 13 Syndrome	Encephalocele, Complete atrioventricular canal defect, Ventricular septal defect, Hydrocephalus, ...	OMIM:264480
Indomethacin Embryofetopathy	Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency	ORPHA:1909
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Ventriculomegaly, Hydrocephalus	OMIM:614830
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Biemond Syndrome Type 2	Hydrocephalus, Preaxial polydactyly	ORPHA:141333
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Red-brown urine, Ventriculomegaly, Dicarboxylic aciduria, Renal insufficiency, Myoglobinuria, Ren...	ORPHA:228308
Holoprosencephaly-Caudal Dysgenesis Syndrome	Holoprosencephaly	ORPHA:2165
Hydrocephalus, Normal-Pressure, 1	Urinary incontinence, Normal pressure hydrocephalus	OMIM:236690
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis	ORPHA:3033
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Holoprosencephaly, Situs inversus totalis	ORPHA:990
Microform Holoprosencephaly	Short stature, Intrauterine growth retardation, Holoprosencephaly, Tetralogy of Fallot	ORPHA:280200
1Q21.1 Microduplication Syndrome	Hypospadias, Hydrocephalus	ORPHA:250994
Meckel Syndrome, Type 2	Encephalocele, Polydactyly, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, An...	OMIM:603194
Holoprosencephaly-Craniosynostosis Syndrome	Short stature, Holoprosencephaly	ORPHA:2163
Ventriculomegaly With Cystic Kidney Disease	Ventriculomegaly, Hyperechogenic kidneys, Renal insufficiency, Renal corticomedullary cysts, Hydr...	OMIM:219730
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Microtia	Holoprosencephaly	ORPHA:83463
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Solitary Median Maxillary Central Incisor	Short stature, Holoprosencephaly	OMIM:147250
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He...	OMIM:614817
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Renal cortical cy...	OMIM:231680
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Bardet-Biedl Syndrome 9	Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol...	OMIM:615986
Chromosome 1Q41-Q42 Deletion Syndrome	Short stature, Holoprosencephaly, Ventricular septal defect	OMIM:612530
Masa Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:303350
Odontochondrodysplasia 1	Nephronophthisis, Polycystic kidney dysplasia	OMIM:184260
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Hepatorenocardiac Degenerative Fibrosis	Hyperechogenic kidneys, Reduced renal corticomedullary differentiation, Renal interstitial fibros...	OMIM:619902
Pancreatic Agenesis-Holoprosencephaly Syndrome	Intrauterine growth retardation, Holoprosencephaly, Semilobar holoprosencephaly	ORPHA:556955
Diencephalic Syndrome	Long penis, Hydrocephalus	ORPHA:1672
Branchiootorenal Syndrome 1	Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Vesico...	OMIM:113650
Short-Rib Thoracic Dysplasia 12	Intrauterine growth retardation, Patent foramen ovale, Ventricular septal defect, Neonatal death,...	OMIM:269860
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ventriculomegaly, Renal insufficiency, Hydronephrosis, Long-chain dicarboxylic aciduria, Ureteral...	OMIM:608836
Gillessen-Kaesbach-Nishimura Syndrome	Polycystic kidney dysplasia	OMIM:263210
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Cone-shaped epiphyses of the ph...	OMIM:617102
Halperin-Birk Syndrome	Intrauterine growth retardation, Semilobar holoprosencephaly, Perimembranous ventricular septal d...	OMIM:618651
16P13.11 Microdeletion Syndrome	Short stature, Holoprosencephaly, Atrial septal defect, Ventricular septal defect	ORPHA:261236
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Arima Syndrome	Nephronophthisis, Dilated fourth ventricle, Stage 5 chronic kidney disease, Occipital meningocele...	OMIM:243910
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ventriculomegaly, Occipital encephalocele, Hydrocephalus	ORPHA:324416
Congenital Disorder Of Glycosylation, Type Il	Polycystic kidney dysplasia	OMIM:608776
Orofaciodigital Syndrome Xvii	Clinodactyly, Partial duplication of thumb phalanx, Short middle phalanx of the 2nd finger, Polyd...	OMIM:617926
Developmental And Epileptic Encephalopathy 36	Hydrocephalus	OMIM:300884
Iniencephaly	Rhizomelia, Spinal dysraphism, Rocker bottom foot, Myelomeningocele, Encephalocele, Talipes equin...	ORPHA:63259
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Trisomy 18	Growth delay, Intrauterine growth retardation, Ventricular septal defect, Spina bifida, Atrial se...	ORPHA:3380
49,Xxxxy Syndrome	Short stature, Azoospermia, Holoprosencephaly	ORPHA:96264
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Renal hypoplasia, Polycystic kidney dysplasia, Renal cyst	OMIM:614091
Joubert Syndrome 18	Occipital encephalocele, Trident pelvis, Bowing of the long bones, Talipes equinovarus, Postaxial...	OMIM:614815
Meckel Syndrome 14	Holoprosencephaly, Occipital encephalocele, Single ventricle	OMIM:619879
Laurin-Sandrow Syndrome	Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup...	OMIM:135750
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Abnormal localization of kidney, Hydrocephalus	ORPHA:83473
Meckel Syndrome, Type 10	Postaxial foot polydactyly, Occipital encephalocele, Postaxial polydactyly, Ulnar deviation of th...	OMIM:614175
Joubert Syndrome 15	Exencephaly, Preaxial polydactyly	OMIM:614464
Renal-Hepatic-Pancreatic Dysplasia 1	Stage 5 chronic kidney disease, Renal insufficiency, Hepatic cysts, Ureteral atresia, Pancreatic ...	OMIM:208540
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Ventriculomegaly, Occipital meningocele, Anencephaly, Hydrocephalus, Micropenis, Polycystic kidne...	OMIM:616546
Holoprosencephaly 14	Alobar holoprosencephaly, Ventricular septal defect, Double outlet right ventricle, Hydrocephalus...	OMIM:619895
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ventriculomegaly, Ectopic kidney, Cystic renal dysplasia	OMIM:613730
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Fried Syndrome	Hydrocephalus	ORPHA:85335
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Hydrocephalus, Syndactyly	OMIM:602501
Nephronophthisis 15	Polydactyly	OMIM:614845
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Orofaciodigital Syndrome Xi	Postaxial polydactyly	OMIM:612913
Meckel Syndrome, Type 4	Encephalocele, Renal cyst, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation	OMIM:611134
Joubert Syndrome 39	Polycystic kidney dysplasia, Occipital encephalocele	OMIM:619562
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Brachydactyly, Short long bone, Polydactyly	OMIM:613819
Congenital Hydrocephalus	Ventriculomegaly, Colpocephaly, Hydrocephalus	ORPHA:2185
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Calcium oxalate nephrolithiasis, Hydrocephalus	OMIM:248000
Holoprosencephaly-Postaxial Polydactyly Syndrome	Umbilical hernia, Encephalocele, Hydrocephalus, Abnormal cardiac septum morphology, Holoprosencep...	ORPHA:2166
Endocrine-Cerebroosteodysplasia	Sandal gap, Micromelia, Preaxial polydactyly, Fibular bowing, Tibial bowing, Postaxial polydactyl...	OMIM:612651
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Holoprosencephaly 4	Semilobar holoprosencephaly	OMIM:142946
Papillary Tumor Of The Pineal Region	Increased CSF protein concentration, Hydrocephalus	ORPHA:251915
6P22 Microdeletion Syndrome	Hydronephrosis, Hydrocephalus	ORPHA:251046
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Ventricular septal defect...	OMIM:146510
Hydrolethalus Syndrome 2	Ventriculomegaly, Anencephaly, Hydrocephalus	OMIM:614120
Multiple Acyl-Coa Dehydrogenase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Lacticaciduria, Polycystic kidney dysplasia, Ethylm...	ORPHA:26791
Pontocerebellar Hypoplasia, Type 14	Hydrocephalus	OMIM:619301
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst	OMIM:617056
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Renal hypoplasia, Hydrocephalus	OMIM:276950
Jacobsen Syndrome	Intrauterine growth retardation, Ventricular septal defect, Hydrocephalus, Atrial septal defect, ...	OMIM:147791
Phelan-Mcdermid Syndrome	Ventriculomegaly, Vesicoureteral reflux, Polycystic kidney dysplasia, Abnormality of the kidney	OMIM:606232
Diaphanospondylodysostosis	Myelomeningocele, Multiple renal cysts	ORPHA:66637
Bardet-Biedl Syndrome 19	Postaxial polydactyly, Y-shaped metacarpals, Postaxial foot polydactyly, Mesoaxial hand polydactyly	OMIM:615996
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus	OMIM:619302
Arachnoid Cyst	Hydrocephalus, Holoprosencephaly, Encephalocele	ORPHA:2356
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Tetralogy of Fallot, 2-3 toe syndactyly, Radioulnar synostosis, Brachydactyly, Coxa vara, Clinoda...	OMIM:614701
Nephronophthisis 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico...	OMIM:604387
Ivic Syndrome	Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l...	OMIM:147750
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Postaxial polydactyly, Hand polydactyly,...	OMIM:258860
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Clinodactyly, Genu valgum, Polydactyly, Flattened epiphysis, Tapered finger	OMIM:607131
Bardet-Biedl Syndrome 17	Postaxial foot polydactyly, Mesoaxial hand polydactyly, Polydactyly, Brachydactyly, Postaxial han...	OMIM:615994
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Alexander Disease	Increased CSF protein concentration, Hydrocephalus	OMIM:203450
Holoprosencephaly 7	Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita...	OMIM:610828
Camptobrachydactyly	Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly	OMIM:114150
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Polycystic kidney dysplasia	OMIM:214110
Mosaic Variegated Aneuploidy Syndrome	Intrauterine growth retardation, Subvalvular aortic stenosis, Atrial septal defect, Short stature...	ORPHA:1052
Joubert Syndrome 20	Postaxial polydactyly, 4-5 toe syndactyly	OMIM:614970
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Tuberous Sclerosis Complex	Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic cysts, Renal...	ORPHA:805
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Semilobar holoprosencephaly, Intrauterine growth retardation, Neonatal death, Growth delay, Lobar...	OMIM:618500
Joubert Syndrome 7	Postaxial polydactyly, Genu valgum, Encephalocele, Postaxial hand polydactyly	OMIM:611560
Genitopalatocardiac Syndrome	Renal cyst, Hypospadias	OMIM:231060
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Hydrocephalus	ORPHA:2183
Holoprosencephaly	Spinal dysraphism, Tetralogy of Fallot, Branchial anomaly, Encephalocele, Abnormal pulmonary valv...	ORPHA:2162
Joubert Syndrome 17	Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly	OMIM:614615
Nephronophthisis 4	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia...	OMIM:606966
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele	ORPHA:1528
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Clinodactyly of the 5th finger, Upper limb asymmetry, Polydactyly	ORPHA:231140
Nephronophthisis 9	Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts	OMIM:613824
2,4-Dienoyl-Coa Reductase Deficiency	Ventriculomegaly, Hyperlysinuria, Increased CSF lactate, Increased CSF lysine concentration, Colp...	OMIM:616034
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hypospadias, Renal cyst, Colpocephaly, Polycystic kidney dysplasia, Renal cortical microcysts	OMIM:614866
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Polycystic...	ORPHA:2237
Meckel Syndrome, Type 5	Renal cyst, Occipital encephalocele, Anencephaly	OMIM:611561
Nephronophthisis 1	Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal...	OMIM:256100
Aicardi-Goutieres Syndrome 4	CSF lymphocytic pleiocytosis, Ventriculomegaly, Hydrocephalus	OMIM:610333
Corpus Callosum, Partial Agenesis Of, X-Linked	Ventriculomegaly, Hydrocephalus	OMIM:304100
Renal Coloboma Syndrome	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal...	ORPHA:1475
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Steinfeld Syndrome	Abnormal heart morphology, Holoprosencephaly	OMIM:184705
Joubert Syndrome 23	Polydactyly	OMIM:616490
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Brachydactyly, Short long bone	OMIM:615633
Chromosome 13Q14 Deletion Syndrome	Umbilical hernia, Patent foramen ovale, Ventricular septal defect, Holoprosencephaly, Growth delay	OMIM:613884
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Meckel Syndrome, Type 6	Occipital encephalocele, Aplasia of the bladder, Horseshoe kidney, Hepatic cysts, Renal cyst, Hyd...	OMIM:612284
Craniofacial Dyssynostosis With Short Stature	Horseshoe kidney, Ventriculomegaly, Hypospadias, Hydrocephalus	OMIM:218350
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Monosomy 13Q14	Short stature, Intrauterine growth retardation, Holoprosencephaly	ORPHA:1587
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
Alagille Syndrome 2	Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria	OMIM:610205
Isolated Polycystic Liver Disease	Multiple renal cysts	ORPHA:2924
Orofaciodigital Syndrome I	Myelomeningocele, Hepatic cysts, Ovarian cyst, Proteinuria, Hydrocephalus, Pancreatic cysts, Poly...	OMIM:311200
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Laurence-Moon Syndrome	Abnormality of the hand, Polydactyly	OMIM:245800
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus	OMIM:307000
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney	OMIM:613091
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Renal hypoplasia, Renal agenesis, Hydrocephalus, Micropenis, Hypospadias	ORPHA:171839
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal cyst, Renal insufficiency	OMIM:611773
Coach Syndrome 2	Hydrocephalus, Hyperechogenic kidneys	OMIM:619111
Peroxisome Biogenesis Disorder 11A (Zellweger)	Renal cyst, Multiple renal cysts	OMIM:614883
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Houge-Janssens Syndrome 2	Broad hallux, Deviation of the 5th finger, Postaxial polydactyly, Hydrocephalus, Hip dysplasia	OMIM:616362
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Hypoplastic ischia, Polydactyly	OMIM:616910
Holoprosencephaly 13, X-Linked	Hypoplastic left heart, Alobar holoprosencephaly, Semilobar holoprosencephaly, Patent foramen ova...	OMIM:301043
Bardet-Biedl Syndrome 8	Postaxial polydactyly	OMIM:615985
Holoprosencephaly 3	Holoprosencephaly	OMIM:142945
Meckel Syndrome, Type 1	Ventriculomegaly, Hypoplasia of the bladder, Occipital encephalocele, Renal agenesis, Abnormality...	OMIM:249000
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Say Syndrome	Cystic renal dysplasia, Proximal renal tubular acidosis	OMIM:181180
Isolated Exencephaly	Holoprosencephaly	ORPHA:563612
Plasminogen Deficiency, Type I	Nephritis, Ventriculomegaly, Nephrolithiasis, Hydrocephalus, Dandy-Walker malformation	OMIM:217090
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Pelger-Huet Anomaly	Short 3rd metacarpal, Umbilical hernia, Upper limb undergrowth, Short 5th metacarpal, Polydactyly...	OMIM:169400
Bresek Syndrome	Renal hypoplasia, Hypoplasia of the bladder, Vesicoureteral reflux, Hydrocephalus, Renal dysplasia	ORPHA:85284
Smith-Lemli-Opitz Syndrome	Rhizomelia, Atrioventricular canal defect, Intrauterine growth retardation, Ventricular septal de...	ORPHA:818
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Preaxial polydactyly, Overlapping toe, Overlapping fingers, Postaxial polydactyly, Bilateral tali...	OMIM:618142
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Hydranencephaly, Ureteral agenesis, Renal cyst, Renal dysplasia	OMIM:236500
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Tetralogy of Fallot, Foot polydactyly, Aplasia/Hypoplasia of the thumb, Overriding aorta, Hypopla...	ORPHA:3186
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cyst, Renal cell carcinoma	OMIM:135150
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Broad thumb, Prominent fingertip pads, Genu valgum, Arachnodactyly, Postaxial polydactyly, Clinod...	OMIM:619721
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Preaxial foo...	OMIM:277170
Congenital Toxoplasmosis	Ventriculomegaly, Hydrocephalus	ORPHA:858
20P13 Microdeletion Syndrome	Brachydactyly, Finger syndactyly, Clinodactyly, Polydactyly	ORPHA:313781
Williams-Beuren Region Duplication Syndrome	Hydronephrosis, Unilateral renal agenesis, Ventriculomegaly, Hydrocephalus	OMIM:609757
Hajdu-Cheney Syndrome	Hypospadias, Polycystic kidney dysplasia, Hydrocephalus, Renal cyst	OMIM:102500
Septooptic Dysplasia	Polydactyly, Short finger	OMIM:182230
Pallister-Hall-Like Syndrome	Micropenis, Hydrocephalus, Occipital encephalocele, Renal dysplasia	OMIM:241800
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus	OMIM:618174
Tetrasomy 15Q26	Horseshoe kidney, Hydronephrosis, Hydrocephalus, Dandy-Walker malformation	OMIM:614846
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Renal cyst, Pancreatic cysts, Polycystic kidney dysplasia	OMIM:610199
Axial Mesodermal Dysplasia Spectrum	Abnormality of the urinary system, Abnormality of the ureter, Renal hypoplasia/aplasia, Hydroneph...	ORPHA:1834
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Oxoglutaric Aciduria	Abnormal urine alpha-ketoglutarate concentration, Hydrocephalus	ORPHA:31
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Infantile Sialic Acid Storage Disease	Nephrotic syndrome, Hydrocephalus	OMIM:269920
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Arachnoiditis	Hydrocephalus, Urinary bladder sphincter dysfunction	ORPHA:137817
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia	ORPHA:1166
Hemangioblastoma	Neurogenic bladder, Hydrocephalus	ORPHA:252054
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Ventriculomegaly, Nephronophthisis, Hydrocephalus	OMIM:615630
Intellectual Developmental Disorder, Autosomal Dominant 23	Postaxial polydactyly, Broad distal phalanx of finger, Sandal gap	OMIM:615761
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5...	OMIM:120330
Charge Syndrome	Umbilical hernia, Tetralogy of Fallot, Postnatal growth retardation, Intrauterine growth retardat...	ORPHA:138
15q26 overgrowth syndrome	Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro...	DECIPHER:81
Silver-Russell Syndrome Due To A Point Mutation	Short 5th finger, Ectrodactyly, Small placenta, Polydactyly, Clinodactyly of the 5th finger, Synd...	ORPHA:397590
Fanconi Anemia, Complementation Group O	Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease	OMIM:613390
Mckusick-Kaufman Syndrome	Hydronephrosis, Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula	OMIM:236700
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Renal cyst, Multicystic kidney dysplasia, Ventriculomegaly, Meningocele	ORPHA:2031
Diabetic Embryopathy	Spinal dysraphism, Renal hypoplasia/aplasia, Hydronephrosis, Hydrocephalus, Micropenis, Ureteral ...	ORPHA:1926
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ventriculomegaly, Hydrocephalus	OMIM:618577
Hartsfield Syndrome	Alobar holoprosencephaly, Growth delay, Lobar holoprosencephaly, Semilobar holoprosencephaly	OMIM:615465
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Increased CSF lactate, Renal insufficiency, Renal tubular acidosis, Renal cyst,...	OMIM:614922
Axial Osteomalacia	Renal cyst	OMIM:109130
Rhombencephalosynapsis	Finger syndactyly, Polydactyly, Hydrocephalus, Short phalanx of finger, Complete duplication of t...	ORPHA:59315
Joubert Syndrome 27	Polydactyly	OMIM:617120
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation	OMIM:220220
Prune Belly Syndrome	Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Abnormality of the...	ORPHA:2970
Congenital Muscular Dystrophy, Fukuyama Type	Ventriculomegaly, Hydrocephalus	ORPHA:272
Conotruncal Heart Malformations	Postaxial polydactyly, Broad hallux	OMIM:217095
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia, Lateral ventricle dilatation	OMIM:263520
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D...	OMIM:174000
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas...	ORPHA:97362
Ring Chromosome 7 Syndrome	Short stature, Holoprosencephaly, Situs inversus totalis, Severe intrauterine growth retardation	ORPHA:1449
Coach Syndrome 1	Unilateral renal agenesis, Nephronophthisis, Occipital encephalocele, Multiple small medullary re...	OMIM:216360
Smith-Lemli-Opitz Syndrome	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect, Hydrocep...	OMIM:270400
Joubert Syndrome 35	Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections	OMIM:618161
Holoprosencephaly 9	Alobar holoprosencephaly, Hydrocephalus, Short stature, Holoprosencephaly, Occipital meningocele	OMIM:610829
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synostosis, Myelomeningocele, ...	ORPHA:90652
Retinitis Pigmentosa 89	Postaxial polydactyly	OMIM:618955
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:613153
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Micromelia, Postaxial polydactyly, Brachydactyly, Hypoplasia of the radius, Syn...	OMIM:617895
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus	ORPHA:380
Czeizel-Losonci Syndrome	Abnormality of the urinary system, Ureteral agenesis, Myelomeningocele, Hydronephrosis, Hydroceph...	ORPHA:2437
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly, Brachydactyly, Sho...	OMIM:615503
Bardet-Biedl Syndrome 6	Renal cyst, Hypospadias	OMIM:605231
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
22Q11.2 Deletion Syndrome	Renal hypoplasia, Vesicoureteral reflux, Multiple renal cysts, Spina bifida, Hydrocephalus, Polyc...	ORPHA:567
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus	OMIM:613155
Alexander Disease Type I	Hydrocephalus	ORPHA:363717
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Oliguria, Recurrent urinary tract infections, Reduced renal corticomedullary...	ORPHA:731
Nasu-Hakola Disease	Ventriculomegaly, Hydrocephalus	ORPHA:2770
Acrorenal-Mandibular Syndrome	Abnormality of the ureter, Polycystic kidney dysplasia, Renal agenesis, Aplasia of the bladder	OMIM:200980
Distal Deletion 12Q	Vesicoureteral reflux, Hydronephrosis, Ectopic kidney, Micropenis, Polycystic kidney dysplasia	ORPHA:96149
Meckel Syndrome	Situs inversus totalis, Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly	ORPHA:564
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Severe short stature, Intrauterine growth retardation, Lobar holoprosencephaly	ORPHA:468631
Thanatophoric Dysplasia	Ventriculomegaly, Hydrocephalus, Abnormality of the kidney	ORPHA:2655
Suleiman-El-Hattab Syndrome	Brachydactyly, Clinodactyly, Single transverse palmar crease, Polydactyly	OMIM:618950
Duane-Radial Ray Syndrome	Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi...	OMIM:607323
Caroli Disease	Polycystic kidney dysplasia	ORPHA:53035
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	ORPHA:163961
3P25.3 Microdeletion Syndrome	Broad thumb, Broad hallux, Overlapping toe, Postaxial polydactyly, 2-3 finger syndactyly, Congeni...	ORPHA:435638
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Ritscher-Schinzel Syndrome 1	Hydronephrosis, Hypospadias, Hydrocephalus, Dandy-Walker malformation	OMIM:220210
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Hydrocephalus	OMIM:601794
Holoprosencephaly 1	Short stature, Alobar holoprosencephaly, Ethmocephaly, Single ventricle	OMIM:236100
Townes-Brocks Syndrome 1	Broad thumb, Pseudoepiphyses of second metacarpal, Ventricular septal defect, Atrial septal defec...	OMIM:107480
Tarp Syndrome	Clinodactyly, Single transverse palmar crease, Neonatal death, Postaxial polydactyly, Talipes equ...	OMIM:311900
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Semilobar holoprosencephaly, Intrauterine growth retardation, Ventricular septal defect, Atrial s...	OMIM:301044
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Abnormality of the urinary system	ORPHA:2184
Bor Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ...	ORPHA:107
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Ventricular septal defect, Atrial septal defect, Holoprosencephaly, Pate...	OMIM:615948
Greig Cephalopolysyndactyly Syndrome	Ventriculomegaly, Hypospadias, Hydrocephalus	OMIM:175700
Chiari Malformation Type Ii	Myelomeningocele, Cervical myelopathy, Hydrocephalus, Spina bifida	OMIM:207950
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Joubert Syndrome 14	Encephalocele, Renal cyst, Hydrocephalus, Meningocele, Dandy-Walker malformation	OMIM:614424
Ogden Syndrome	Ventriculomegaly, Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarged kidney	OMIM:300855
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron...	OMIM:613159
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Renal hypoplasia/aplasia, ...	ORPHA:2973
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus	OMIM:300558
Trisomy 1Q	Ventriculomegaly, Multicystic kidney dysplasia, Hydronephrosis, Hydrocephalus, Congenital megaureter	ORPHA:261344
Krabbe Disease	Increased CSF protein concentration, Hydrocephalus	OMIM:245200
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly	ORPHA:544254
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Renal hypoplasia, Lateral ventricle dilatation, Renal cyst, Colpocephaly, Hydrocephalus, Micropen...	OMIM:210710
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Genu valgum, Limb undergrowth	OMIM:619142
Floating-Harbor Syndrome	Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Stage 5 chronic kidney disease,...	ORPHA:2044
1Q44 Microdeletion Syndrome	Horseshoe kidney, Ventriculomegaly, Vesicoureteral reflux, Hydrocephalus	ORPHA:238769
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Ventriculomegaly, Proximal tubulopathy, Hyperechogenic kidneys, Hydroc...	OMIM:614576
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Chromosome 3Pter-P25 Deletion Syndrome	Postaxial polydactyly, Overlapping toe, Tapered finger	OMIM:613792
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus	ORPHA:1914
Holoprosencephaly 2	Holoprosencephaly, Alobar holoprosencephaly, Single ventricle, Semilobar holoprosencephaly	OMIM:157170
Fanconi Anemia, Complementation Group R	Pelvic kidney, Hydrocephalus	OMIM:617244
Polysyndactyly With Cardiac Malformation	Renal cyst, Hepatic cysts	OMIM:263630
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Syndromic Diarrhea	Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:84064
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydronephrosis, Hydrocephalus, Urethral atresia, Enlarged kidney	OMIM:314390
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop...	OMIM:137920
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Multiple glomerular cysts, Choroid ...	OMIM:267010
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Hydrocephalus	ORPHA:2075
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Emanuel Syndrome	Unilateral renal agenesis, Renal hypoplasia, Ventriculomegaly, Recurrent urinary tract infections...	OMIM:609029
Femoral-Facial Syndrome	Ventriculomegaly, Abnormal renal collecting system morphology, Renal agenesis, Encephalocele, Spi...	OMIM:134780
Genitourinary And/Or Brain Malformation Syndrome	Holoprosencephaly	OMIM:618820
Methylcobalamin Deficiency Type Cble	Ventriculomegaly, Glomerulopathy, Hydrocephalus, Hemolytic-uremic syndrome	ORPHA:2169
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydrocephalus, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation	OMIM:225790
Temple Syndrome	Hydrocephalus	ORPHA:254516
Bardet-Biedl Syndrome 12	Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly	OMIM:615989
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus	ORPHA:2701
Verheij Syndrome	Renal cyst, Renal hypoplasia, Renal agenesis	OMIM:615583
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Encephalocele, Fibular hypopla...	OMIM:616300
Joubert Syndrome 2	Enlarged fossa interpeduncularis, Nephronophthisis, Renal insufficiency, Encephalocele, Renal cys...	OMIM:608091
Charge Syndrome	Secundum atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Postnatal growth retardatio...	OMIM:214800
Exstrophy-Epispadias Complex	Penoscrotal transposition, Renal hypoplasia, Bladder exstrophy, Horseshoe kidney, Abnormality of ...	ORPHA:322
Pallister-Hall Syndrome	Toe syndactyly, Broad thumb, Radial bowing, Polydactyly affecting the 4th finger, Overlapping toe...	ORPHA:672
Caroli Syndrome	Polycystic kidney dysplasia, Abnormality of the kidney	ORPHA:480520
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Ventriculomegaly, Renal agenesis, Cystic renal...	OMIM:220500
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Abnormality of the kidney, Tubulointerstitial nephritis, Enuresis, Dandy-Walker ma...	ORPHA:459061
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Ventriculomegaly, Nephroblastoma, Renal cyst, Hydrocephalus, Microp...	OMIM:257300
Houge-Janssens Syndrome 1	Ventriculomegaly, Hydrocephalus	OMIM:616355
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
47,Xyy Syndrome	Azoospermia, Hydrocephalus, Oligozoospermia, Micropenis, Hypospadias	ORPHA:8
Proboscis Lateralis	Holoprosencephaly, Patent ductus arteriosus, Ventricular septal defect	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
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Postaxial polydactyly, Hydrocephalus	OMIM:603387
Fliedner-Zweier Syndrome	Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia, Meningocele	OMIM:620511
Congenital Muscular Dystrophy With Cerebellar Involvement	Ventriculomegaly, Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus	ORPHA:370959
Combined Pituitary Hormone Deficiencies, Genetic Forms	Holoprosencephaly, Delayed puberty, Pituitary dwarfism, Growth delay	ORPHA:95494
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Ventriculomegaly, Hydrocephalus	OMIM:109120
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Edinburgh Malformation Syndrome	Hydrocephalus	ORPHA:1895
Glutaric Acidemia I	Hydrocephalus, Glutaric aciduria, Ketonuria, Lateral ventricle dilatation	OMIM:231670
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve...	OMIM:301111
Roberts Syndrome	Long penis, Polycystic kidney dysplasia	ORPHA:3103
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus	OMIM:614195
Vacterl/Vater Association	Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Occipital encephalocele...	ORPHA:887
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Unilateral renal agenesis, Communicating hydrocephalus	ORPHA:1064
3C Syndrome	Ventriculomegaly, Hydronephrosis, Hydrocephalus, Hypoplasia of penis, Hypospadias, Dandy-Walker m...	ORPHA:7
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Nephrocalcinosis, Hydroureter, Ureteral stenosis, Renal cyst, Hypercalciuria	OMIM:615398
Pentalogy Of Cantrell	Renal agenesis, Encephalocele, Anencephaly, Hydrocephalus, Hypospadias, Renal dysplasia	ORPHA:1335
Multiple Sulfatase Deficiency	Increased CSF protein concentration, Ventriculomegaly, Mucopolysacchariduria, Hydrocephalus	OMIM:272200
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Cone-shaped epiphysis, Occipital encephalocele, Rhizomelic arm shortening, Proximal femoral metap...	ORPHA:397715
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Micropenis, Unilateral renal agenesis, Vesicoureteral reflux, Hydrocephalus	OMIM:619951
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	2-3 toe syndactyly, Broad distal phalanx of finger, Postaxial foot polydactyly, Postaxial polydac...	ORPHA:404440
Basal Cell Nevus Syndrome 1	Palmar pits, Short distal phalanx of the thumb, Polydactyly, Down-sloping shoulders, Short 4th me...	OMIM:109400
Emanuel Syndrome	Unilateral renal agenesis, Renal hypoplasia, Ventriculomegaly, Hydrocephalus, Micropenis, Dandy-W...	ORPHA:96170
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Ventriculomegaly, Colpocephaly, Hydrocephalus	OMIM:619833
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Familial Adenomatous Polyposis 4	Renal cyst, Ovarian cyst	OMIM:617100
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Kleefstra Syndrome	Ventriculomegaly, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Renal cyst, Micrope...	ORPHA:261494
Orofaciodigital Syndrome Type 6	Finger clinodactyly, Preaxial polydactyly, Hand polydactyly, Mesoaxial polydactyly, Brachydactyly...	ORPHA:2754
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Ventriculomegaly, Colpocephaly, Communicating hydrocephalus, Hydrocephalus	OMIM:615219
Congenital Sialidosis Type 2	Polydactyly, Hydrocephalus, Umbilical hernia	ORPHA:93400
Joubert Syndrome With Oculorenal Defect	Nephropathy, Hydrocephalus, Renal insufficiency, Encephalocele	ORPHA:2318
Mayer-Rokitansky-Kuster-Hauser Syndrome	Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Polycystic ovaries,...	OMIM:277000
Temple Syndrome	Hydrocephalus	OMIM:616222
Thoracoabdominal Syndrome	Hydrocephalus, Hypospadias, Renal agenesis, Anencephaly	OMIM:313850
Marden-Walker Syndrome	Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro...	ORPHA:2461
Joubert Syndrome With Renal Defect	Nephropathy, Hydrocephalus, Renal insufficiency, Encephalocele	ORPHA:220497
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Ventriculomegaly, Colpocephaly, Hydrocephalus	OMIM:620156
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease...	ORPHA:18
3-Methylglutaconic Aciduria Type 7	Renal cyst, Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria	ORPHA:445038
Pseudoaminopterin Syndrome	Slender finger, Synostosis of carpal bones, Short thumb, Overlapping toe, Clinodactyly of the 4th...	ORPHA:221120
Fanconi Anemia, Complementation Group B	Micropenis, Hydrocephalus, Ventriculomegaly, Renal agenesis	OMIM:300514
9Q21.13 Microdeletion Syndrome	Hip dysplasia, Polydactyly	ORPHA:531151
Encephalocraniocutaneous Lipomatosis	Hydronephrosis, Pelvic kidney, Hydrocephalus, Dandy-Walker malformation	OMIM:613001
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal...	OMIM:613154
Thanatophoric Dysplasia Type 1	Ventriculomegaly, Hydrocephalus, Abnormality of the kidney	ORPHA:1860
Trisomy 13	Hydronephrosis, Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral meatus	ORPHA:3378
Congenital Disorder Of Glycosylation, Type Ib	Renal cyst, Proximal tubulopathy	OMIM:602579
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Multicystic kidney dysplasia, Ventriculomegaly, Occipital encephalocele, Hydronephrosis, Hydrocep...	OMIM:615287
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Functioning Gonadotropic Adenoma	Enlarged polycystic ovaries, Hydrocephalus, Ovarian cyst, Oligozoospermia	ORPHA:91348
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus, Renal tubular dysfunction	OMIM:614886
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Renal cyst, Colpocephaly, Renal dysplasia, Ventriculomegaly	OMIM:617260
Alkuraya-Kucinskas Syndrome	Micropenis, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617822
Mend Syndrome	Broad hallux, Overlapping toe, Overlapping fingers, Polydactyly, 2-3 toe syndactyly, Hydrocephalu...	OMIM:300960
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Hydrocephalus	ORPHA:3301
Pelvis-Shoulder Dysplasia	Hydronephrosis, Hydranencephaly, Hydrocephalus, Spina bifida	ORPHA:2839
Pettigrew Syndrome	Aqueductal stenosis, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:304340
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus	OMIM:620157
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Isolated Posterior Meningocele	Occipital meningocele, Hydrocephalus, Lipomyelomeningocele, Meningocele, Enuresis, Neural tube de...	ORPHA:268810
Fraser Syndrome 3	Hypoplasia of the bladder, Bilateral renal agenesis, Ureteral agenesis, Hydrocephalus, Hypoplasia...	OMIM:617667
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Occipital encephalocele, Renal insufficiency, Hydrocep...	ORPHA:1454
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Spina bifida occulta, Neurogenic bladder, Hydrocephalus	OMIM:613686
Khan-Khan-Katsanis Syndrome	Renal hypoplasia, Ventriculomegaly, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Colpocepha...	OMIM:618460
Diaphanospondylodysostosis	Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia	OMIM:608022
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Tenorio Syndrome	Ventriculomegaly, Enuresis, Hydrocephalus	OMIM:616260
Joubert Syndrome 37	Postaxial polydactyly	OMIM:619185
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventriculomegaly, Hydrocephalus	ORPHA:60040
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus, Polycystic ovaries	ORPHA:2969
Griscelli Syndrome	Hydrocephalus, Encephalocele	ORPHA:381
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydronephrosis, Ureteral triplication, Hydrocephalus	OMIM:104350
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	ORPHA:1647
Gracile Bone Dysplasia	Micropenis, Hydrocephalus	OMIM:602361
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Bardet-Biedl Syndrome 1	Postaxial foot polydactyly, Radial deviation of finger, Postaxial polydactyly, Brachydactyly, Pos...	OMIM:209900
Axenfeld-Rieger Syndrome, Type 2	Hypospadias, Hydrocephalus	OMIM:601499
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad...	OMIM:614527
Sacral Defect With Anterior Meningocele	Urinary retention, Myelomeningocele, Myeloschisis, Neurogenic bladder, Hydrocephalus, Meningocele...	OMIM:600145
Mosaic Trisomy 1	Lateral ventricle dilatation, Renal cortical cysts, Penile hypospadias, Renal cyst, Micropenis	ORPHA:1692
Walker-Warburg Syndrome	Ventriculomegaly, Hypoplasia of penis, Hydrocephalus, Dandy-Walker malformation	ORPHA:899
Chondrodysplasia Punctata 2, X-Linked Dominant	Abnormal pelvic girdle bone morphology, Rhizomelia, Hemiatrophy, Stippled calcification in carpal...	OMIM:302960
Pontocerebellar Hypoplasia, Type 7	Micropenis, Ventriculomegaly, Hydrocephalus	OMIM:614969
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Renal insuff...	ORPHA:93111
Mosaic Trisomy 9	Ventriculomegaly, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Spina bifida, Hypoplasi...	ORPHA:99776
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Hydrolethalus	Anencephaly, Hydrocephalus	ORPHA:2189
Acquired Aneurysmal Subarachnoid Hemorrhage	Increased CSF lactate, Hydrocephalus, Hyperglycorrhachia	ORPHA:90065
Adnp Syndrome	Broad thumb, Sandal gap, Broad hallux, Umbilical hernia, Single transverse palmar crease, Polydac...	ORPHA:404448
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Dandy-Walker malformation	OMIM:612582
Cranioectodermal Dysplasia 3	Rhizomelia, 2-4 toe syndactyly, Sandal gap, Postaxial polydactyly, 2-3 toe syndactyly, Brachydactyly	OMIM:614099
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Myelomeningocele, Hydronephrosis, Hydr...	OMIM:258040
15Q Overgrowth Syndrome	Ureterovesical stenosis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormal renal morphol...	ORPHA:314585
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormal renal tubule morphology, Hydrocephalus	ORPHA:2720
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Horseshoe kidney, Renal cyst	ORPHA:166035
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Micropenis, Ventriculomegaly, Dilated third ventricle, Hydrocephalus	ORPHA:500055
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatic cysts, Enlarged kidney, Cystic renal dysplasia	OMIM:615415
Peutz-Jeghers Syndrome	Enlarged polycystic ovaries, Abnormality of the ureter, Multiple renal cysts, Renal cell carcinoma	ORPHA:2869
Trisomy 20P	Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Spina bifida, Abnormality of the...	ORPHA:261318
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia	OMIM:618829
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Semilobar holoprosencephaly	OMIM:129900
Roberts-Sc Phocomelia Syndrome	Long penis, Horseshoe kidney, Hydrocephalus, Frontal encephalocele, Polycystic kidney dysplasia, ...	OMIM:268300
Campomelia, Cumming Type	Multicystic kidney dysplasia, Pancreatic cysts, Multiple renal cysts	ORPHA:1318
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Postaxial polydactyly	OMIM:615824
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia	OMIM:619980
Neurooculorenal Syndrome	Unilateral renal agenesis, Ventriculomegaly, Hypoplasia of the bladder, Bilateral renal agenesis,...	OMIM:620305
Congenital Bile Acid Synthesis Defect Type 2	Renal cyst, Dark urine	ORPHA:79303
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Homocystinuria, Acute kidney injury, Methylmalonic aciduria, Cystathioninuria, Renal...	OMIM:277400
Congenital Disorder Of Glycosylation, Type Ia	Proximal tubulopathy, Dilated fourth ventricle, Proteinuria, Renal cyst, Nephrotic syndrome	OMIM:212065
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation, Nephrolithiasis	ORPHA:722
Vacterl With Hydrocephalus	Renal agenesis, Renal hypoplasia/aplasia, Hydrocephalus, Spina bifida, Aqueductal stenosis	ORPHA:3412
Joubert Syndrome 1	Nephropathy, Renal cyst, Occipital myelomeningocele, Enlarged fossa interpeduncularis	OMIM:213300
Mody	Nephropathy, Renal cyst, Glycosuria, Abnormality of the kidney	ORPHA:552
Dextrocardia	Abnormality of the ureter, Hydrocephalus, Abnormal renal morphology	ORPHA:1666
Peroxisome Biogenesis Disorder 4A (Zellweger)	Renal cyst	OMIM:614862
Lowry-Maclean Syndrome	Hypospadias, Hydrocephalus	ORPHA:2409
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Ventriculomegaly, Hypoplasia of penis, Hydrocephalus	ORPHA:1812
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hydrocephalus, Dandy-Walker malformation	OMIM:612938
Stromme Syndrome	Preaxial polydactyly, Hydrocephalus, Stillbirth	OMIM:243605
Kinsship Syndrome	Death in infancy, Polydactyly, Fibular hypoplasia, Single transverse palmar crease, Coxa valga, D...	OMIM:619297
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Mucopolysaccharidosis, Type Ii	Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Hydrocephalus, Dermatan ...	OMIM:309900
Desmosterolosis	Hydrocephalus, Ventriculomegaly, Renal agenesis, Renal hypoplasia/aplasia	ORPHA:35107
Multiple Sulfatase Deficiency	Mucopolysacchariduria, Hydrocephalus	ORPHA:585
Developmental Delay With Or Without Dysmorphic Facies And Autism	Renal hypoplasia, Ventriculomegaly, Microphallus, Vesicoureteral reflux, Hydronephrosis, Renal cyst	OMIM:618454
Intellectual Developmental Disorder, Autosomal Dominant 65	Noncommunicating hydrocephalus	OMIM:619320
Fanconi Anemia, Complementation Group D2	Renal agenesis, Horseshoe kidney, Renal duplication, Micropenis, Ectopic kidney, Hydrocephalus, D...	OMIM:227646
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Abnormal renal morphology, Hydrocephalus	OMIM:239300
Choanal Atresia	Polydactyly	ORPHA:137914
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Cystic Echinococcosis	Renal cyst, Membranous nephropathy, Hepatic cysts, Ovarian cyst	ORPHA:400
Glutaryl-Coa Dehydrogenase Deficiency	Chronic kidney disease, Glutaric aciduria, Ventriculomegaly, Subependymal nodules, Communicating ...	ORPHA:25
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Unilateral renal agenesis, Hypospadias, Ventriculomegaly, Hydronephrosis, Renal cyst, Micropenis,...	ORPHA:464311
H Syndrome	Azoospermia, Hydrocephalus, Abnormality of the kidney, Micropenis, Enlarged kidney	ORPHA:168569
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus	OMIM:615249
Bardet-Biedl Syndrome 20	2-3 toe syndactyly, Preaxial foot polydactyly, Postaxial polydactyly, Postaxial hand polydactyly	OMIM:619471
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Hydroureter, Ureterocele, Urinary retention, Recurrent urinary trac...	ORPHA:79404
Fryns Syndrome	Ventriculomegaly, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Hypospadia...	ORPHA:2059
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:618476
Mirage Syndrome	Hypospadias, Hydrocephalus, Microphallus, Recurrent urinary tract infections	OMIM:617053
Hec Syndrome	Communicating hydrocephalus	ORPHA:2119
Ulbright-Hodes Syndrome	Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:3404
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short tibia, Preaxial polydactyly, Fibular hypoplasia, Neonatal death, Postaxial polydactyly, Nar...	OMIM:617925
Kabuki Syndrome	Abnormal localization of kidney, Ventriculomegaly, Crossed fused renal ectopia, Ureteropelvic jun...	ORPHA:2322
Fg Syndrome Type 1	Ventriculomegaly, Hypospadias, Hydrocephalus	ORPHA:93932
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Orofaciodigital Syndrome V	Postaxial polydactyly, Postaxial foot polydactyly, Sandal gap, Postaxial hand polydactyly	OMIM:174300
Msh3-Related Attenuated Familial Adenomatous Polyposis	Renal cyst, Ovarian dermoid cyst	ORPHA:480536
Proximal 16P11.2 Microdeletion Syndrome	Ventriculomegaly, Multicystic kidney dysplasia	ORPHA:261197
Tarp Syndrome	Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Single transverse palmar crease, ...	ORPHA:2886
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Abnormal renal morphology, Hydrocephalus	OMIM:207410
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Small hand, Postaxial polydactyly, Hip dysplasia, Short foot, Hip dislocation, Tapered finger	OMIM:300968
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Hyperparathyroidism, Transient Neonatal	Unilateral renal agenesis, Ventriculomegaly, Ovarian cyst, Communicating hydrocephalus, Enlarged ...	OMIM:618188
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Lymphangioleiomyomatosis	Abnormal urinary color, Hematuria, Renal angiomyolipoma, Multiple renal cysts, Hydrocephalus, Ren...	ORPHA:538
Thanatophoric Dysplasia, Type I	Hydrocephalus	OMIM:187600
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus	OMIM:612940
Osteootohepatoenteric Syndrome	Grade II vesicoureteral reflux, Proteinuria, Hydrocephalus	OMIM:619377
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus	OMIM:259710
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Ventriculomegaly, Hydrocephalus	OMIM:616538
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithiasis, Parath...	OMIM:600740
Peho Syndrome	Ventriculomegaly, Hydrocephalus	ORPHA:2836
Miller-Dieker Lissencephaly Syndrome	Joint contracture of the hand, Single transverse palmar crease, Polydactyly, Deep palmar crease, ...	OMIM:247200
Rubinstein-Taybi Syndrome 1	Broad distal phalanx of finger, Broad thumb, Radial deviation of thumb terminal phalanx, Short th...	OMIM:180849
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Dyrk1A-Related Intellectual Disability Syndrome	Unilateral renal agenesis, Hypospadias, Ventriculomegaly, Hydronephrosis, Renal cyst, Micropenis,...	ORPHA:464306
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Lateral ventricle dilatation	OMIM:612863
Tuberous Sclerosis 1	Renal angiomyolipoma, Renal cell carcinoma, Subependymal nodules, Renal cyst	OMIM:191100
Branchio-Oculo-Facial Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Renal agenesis	ORPHA:1297
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Absent outer dynein arms	OMIM:244400
Tuberous Sclerosis 2	Renal angiomyolipoma, Renal cyst, Subependymal nodules, Renal cell carcinoma, Absence of renal co...	OMIM:613254
Penile Agenesis	Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H...	ORPHA:49
Monosomy 9Q22.3	Polydactyly, Palmar pits, Hydrocephalus, Umbilical hernia	ORPHA:77301
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia	ORPHA:3015
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Hydrocephalus, Encephalocele	OMIM:224400
Joubert Syndrome	Hydrocephalus, Encephalocele	ORPHA:475
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly	ORPHA:314655
2P15P16.1 Microdeletion Syndrome	Hydronephrosis, Ventriculomegaly, Multicystic kidney dysplasia	ORPHA:261349
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Communicating hydrocephalus	OMIM:616084
Primary Ciliary Dyskinesia	Ventriculomegaly, Hydrocephalus	ORPHA:244
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Urinary incontinence, Hydrocephalus	OMIM:616482
Zellweger Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Hypospadias	ORPHA:912
Vater/Vacterl Association	Occipital encephalocele, Short thumb, Preaxial polydactyly, Radioulnar synostosis, Triphalangeal ...	OMIM:192350
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Clinodactyly of the 5th finger	ORPHA:457284
Cornelia De Lange Syndrome 1	Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesicoureteral reflux, Proteinu...	OMIM:122470
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Acute kidney injury, Nephronophthisis, Ventriculomegaly, Stage 5 chronic kidney disease, Reduced ...	OMIM:266920
Lateral Meningocele Syndrome	Meningocele, Neurogenic bladder, Hydrocephalus	OMIM:130720
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Single transverse palmar crease, Postaxial polydactyly, Palmoplantar hyperhidrosis, Long fingers,...	OMIM:617527
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Homocystinuria, Ventriculomegaly, Hydrocephalus	ORPHA:395
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Nephrocalcinosis, Abnormality of the urinary system, Renal cyst, Hypercalciuria, Congenital megau...	ORPHA:369837
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst, Pancreatic cysts	OMIM:208500
Knobloch Syndrome	Hydrocephalus, Bifid ureter, Vesicoureteral reflux, Occipital encephalocele	ORPHA:1571
Hyperparathyroidism-Jaw Tumor Syndrome	Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy...	ORPHA:99880
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus	ORPHA:93259
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Horseshoe kidney, Renal cyst	OMIM:250410
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hydrocephalus, Encephalocele	ORPHA:1865
Joubert Syndrome With Ocular Defect	Hydrocephalus, Encephalocele	ORPHA:220493
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Heavy proteinuria, Prote...	ORPHA:505248
Mckusick-Kaufman Syndrome	Multicystic kidney dysplasia, Glandular hypospadias, Renal hypoplasia/aplasia, Urethral stricture...	ORPHA:2473
Au-Kline Syndrome	Overlapping toe, Postaxial polydactyly, Deep palmar crease, Lipomyelomeningocele, Hip dysplasia, ...	OMIM:616580
Coccidioidomycosis	Increased CSF protein concentration, Hypoglycorrhachia, Renal insufficiency, CSF lymphocytic plei...	ORPHA:228123
Achondroplasia	Hydrocephalus	ORPHA:15
Transketolase Deficiency	Increased level of ribose in urine, Renal cyst	ORPHA:488618
Cerebrooculonasal Syndrome	Postaxial polydactyly, Hydrocephalus, Encephalocele, Postaxial hand polydactyly	OMIM:605627
Mucopolysaccharidosis, Type Vii	Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Hydrocephalus, Dermatan ...	OMIM:253220
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Hydranencephaly, Myelomeningocele, Spina bifida, Meningocele	ORPHA:1393
Tetrasomy 5P	Hydrocephalus	ORPHA:3309
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Ventriculomegaly, Occipital encephalocele, Renal dysplasia, Hydrocephalus, Meningoencephalocele, ...	OMIM:236670
Carpenter Syndrome 2	Broad thumb, Umbilical hernia, Preaxial polydactyly, Cutaneous finger syndactyly, Bilateral posta...	OMIM:614976
Hurler Syndrome	Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Hydrocephalus, Dermatan ...	OMIM:607014
1Q21.1 Microdeletion Syndrome	Hydronephrosis, Vesicoureteral reflux, Hydrocephalus	ORPHA:250989
Parathyroid Carcinoma	Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy...	ORPHA:143
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus	OMIM:259700
Adams-Oliver Syndrome	Hydrocephalus, Encephalocele	ORPHA:974
Crouzon Syndrome	Hydrocephalus	OMIM:123500
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Dural Sinus Malformation	Myelopathy, Hydrocephalus	ORPHA:97339
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Nephroblastoma	ORPHA:1001
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Hydrocephalus, Ventriculomegaly, Encephalocele, Dandy-Walker malformation	OMIM:614643
Helsmoortel-Van Der Aa Syndrome	Small hand, Sandal gap, Prominent fingertip pads, Short 4th toe, Broad hallux, Genu valgum, Polyd...	OMIM:615873
Peroxisome Biogenesis Disorder 1B	Renal cyst, Hyperoxaluria	OMIM:601539
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, Renal tubular acidosis	OMIM:619575
Beare-Stevenson Cutis Gyrata Syndrome	Ventriculomegaly, Hypospadias, Hydrocephalus	OMIM:123790
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus	OMIM:616914
Fanconi Anemia, Complementation Group L	Micropenis, Unilateral renal agenesis, Renal hypoplasia, Hydrocephalus	OMIM:614083
7Q11.23 Microduplication Syndrome	Unilateral renal agenesis, Ventriculomegaly, Hypospadias, Hydronephrosis, Hydrocephalus, Enuresis	ORPHA:96121
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus	OMIM:620351
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Hydrocephalus, Ventriculomegaly, Encephalocele	OMIM:613150
3Mc Syndrome 3	Radioulnar synostosis, Clinodactyly, Preaxial polydactyly	OMIM:248340
Cardiofaciocutaneous Syndrome 1	Hydronephrosis, Hydrocephalus	OMIM:115150
Acrodysostosis 1 With Or Without Hormone Resistance	Unilateral renal agenesis, Hydrocephalus	OMIM:101800
D-Bifunctional Protein Deficiency	Renal cyst, Ventriculomegaly	OMIM:261515
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Fanconi Anemia	Ventriculomegaly, Abnormality of the urinary system, Hydroureter, Recurrent urinary tract infecti...	ORPHA:84
Cousin Syndrome	Hydronephrosis, Hydranencephaly, Hydrocephalus	OMIM:260660
Von Hippel-Lindau Syndrome	Epididymal cyst, Pancreatic cysts, Multiple renal cysts, Renal cell carcinoma	OMIM:193300
Rabin-Pappas Syndrome	Hydrocephalus	OMIM:620155
Congenital Syphilis	Nephrotic syndrome, Hydrocephalus, CSF pleocytosis	ORPHA:499009
Mycophenolate Mofetil Embryopathy	Ectopic kidney, Hydrocephalus	ORPHA:268249
Histiocytoid Cardiomyopathy	Renal cyst, Hydrocephalus, Polycystic ovaries	ORPHA:137675
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus	OMIM:618590
Thakker-Donnai Syndrome	Hydronephrosis, Communicating hydrocephalus	ORPHA:1780
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus, Spina bifida	OMIM:613776
Whipple Disease	Hydrocephalus	ORPHA:3452
Raine Syndrome	Hydronephrosis, Hydroureter, Hydrocephalus	OMIM:259775
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Unilateral renal agenesis, Abnormality of the urinary system, Dilatation of the renal pelvis, Ves...	ORPHA:95699
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia, Hydronephrosis, Spina b...	ORPHA:2092
Apert Syndrome	Ventriculomegaly, Hydrocephalus	ORPHA:87
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hydrocephalus	ORPHA:1555
Joubert Syndrome 21	Renal cyst, Occipital encephalocele, Encephalocele, Hyperechogenic kidneys	OMIM:615636
Cardiofaciocutaneous Syndrome	Hydronephrosis, Hydrocephalus	ORPHA:1340
Monosomy 18Q	Micropenis, Hydrocephalus	ORPHA:1600
Alveolar Echinococcosis	Abnormal bladder morphology, Renal cyst, Pancreatic cysts, Hepatic cysts	ORPHA:284
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal mitochondrial shape, Short femur, Short humerus, Polydactyly	ORPHA:17
Thauvin-Robinet-Faivre Syndrome	Renal dysplasia, Bifid ureter, Nephroblastoma, Renal cyst, Renal malrotation	OMIM:617107
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts	OMIM:618733
Linear Skin Defects With Multiple Congenital Anomalies 1	Chordee, Colpocephaly, Hydrocephalus, Micropenis, Hypospadias	OMIM:309801
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ketonuria, Methylmalonic aciduria, Renal insufficiency, Glomerulopathy, Hydrocephalus, Hemolytic-...	ORPHA:79282
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:613603
Mucopolysaccharidosis Type 1	Mucopolysacchariduria, Hydrocephalus	ORPHA:579
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly	ORPHA:163681
Schinzel-Giedion Syndrome	Ventriculomegaly, Abnormality of the ureter, Nephroblastoma, Nephrolithiasis, Hydronephrosis, Ren...	ORPHA:798
Trisomy 8P	Nephrocalcinosis, Hydronephrosis, Hydrocephalus, Micropenis, Fetal pyelectasis, Dandy-Walker malf...	ORPHA:264450
Cranioectodermal Dysplasia 2	Rhizomelia, Clinodactyly, Polydactyly, Brachydactyly, Postaxial hand polydactyly, Mesomelia, Synd...	OMIM:613610
Culler-Jones Syndrome	Postaxial polydactyly	OMIM:615849
Apert Syndrome	Hydronephrosis, Ventriculomegaly, Hydrocephalus	OMIM:101200
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Normal pressure hydrocephalus, Lateral ventricle dilatation	ORPHA:300570
Dubowitz Syndrome	Hydronephrosis, Spina bifida occulta, Hypospadias, Hydrocephalus	ORPHA:235
Genitopatellar Syndrome	Hydronephrosis, Multicystic kidney dysplasia	ORPHA:85201
Lhermitte-Duclos Disease	Hydrocephalus	ORPHA:65285
Kaposiform Lymphangiomatosis	Pancreatic cysts, Multiple renal cysts, Enlarged kidney	ORPHA:464329
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Renal cyst, Ventriculomegaly, Vesicoureteral reflux, Hypospadias	OMIM:616975
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Hydrocephalus	OMIM:245600
Osteopathia Striata With Cranial Sclerosis	Spina bifida occulta, Multicystic kidney dysplasia, Hydrocephalus	OMIM:300373
Desmosterolosis	Ventriculomegaly, Hydrocephalus	OMIM:602398
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus	OMIM:616007
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Colpocephaly, Hydrocephalus	OMIM:620371
Legius Syndrome	Clinodactyly of the 5th finger, Polydactyly	ORPHA:137605
Structural Heart Defects And Renal Anomalies Syndrome	Renal cyst, Renal insufficiency	OMIM:617478
Mucopolysaccharidosis Type 3	Ventriculomegaly, Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Mucopo...	ORPHA:581
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Rena...	ORPHA:2538
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Aqueductal stenosis, Fetal pyelectasis, Hydrocephalus	OMIM:619512
Oculocerebrorenal Syndrome Of Lowe	Aminoaciduria, Nephrocalcinosis, Ventriculomegaly, Oligosacchariduria, Azoospermia, Renal insuffi...	ORPHA:534
Hurler Syndrome	Mucopolysacchariduria, Hydrocephalus	ORPHA:93473
Osteopetrosis, Autosomal Recessive 5	Ventriculomegaly, Hydrocephalus	OMIM:259720
Atelosteogenesis Type I	Multiple renal cysts	ORPHA:1190
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hydronephrosis, Micropenis, Hypospadias, Hydrocephalus	ORPHA:163979
Heterotaxy, Visceral, 1, X-Linked	Renal agenesis, Horseshoe kidney, Myelomeningocele, Hydrocephalus, Aqueductal stenosis, Enlarged ...	OMIM:306955
Koolen-De Vries Syndrome Due To A Point Mutation	Ventriculomegaly, Recurrent urinary tract infections, Vesicoureteral reflux, Renal duplication, F...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Ventriculomegaly, Recurrent urinary tract infections, Vesicoureteral reflux, Renal duplication, F...	ORPHA:363958
Fryns Syndrome	Renal agenesis, Hydronephrosis, Renal cyst, Ureteral duplication, Hypospadias, Dandy-Walker malfo...	OMIM:229850
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Pagod Syndrome	Multicystic kidney dysplasia, Encephalocele, Renal hypoplasia/aplasia, Spina bifida, Meningocele	ORPHA:991
Alexander Disease	Aqueductal stenosis, Hydrocephalus	ORPHA:58
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Umbilical hernia, Absent distal phalanges, Arachnodactyly, Talipes...	OMIM:610168
Opitz-Kaveggia Syndrome	Hypospadias, Hydrocephalus	OMIM:305450
Achondroplasia	Hydrocephalus	OMIM:100800
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus, Enlarged kidney	OMIM:261740
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Renal neoplasm, Hydrocephalus	ORPHA:536467
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Short 5th toe, 2-4 toe cutaneous syndactyly, Polydactyly, Hallux valgus, Abnormal toe morphology,...	ORPHA:268261
Neurofibromatosis, Type I	Aqueductal stenosis, Renal artery stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Cystic renal dysplasia	OMIM:200995
Aymé-Gripp Syndrome	Proteinuria, Ventriculomegaly, Hydrocephalus	ORPHA:1272
Orofaciodigital Syndrome Ii	Hydrocephalus	OMIM:252100
Shprintzen-Goldberg Craniosynostosis Syndrome	Hydrocephalus	OMIM:182212
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Hydrocephalus, Dermatan sulfate excretion in urine	OMIM:253200
Medulloblastoma	Hydrocephalus	ORPHA:616
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Hajdu-Cheney Syndrome	Multiple renal cysts, Hypospadias, Hydrocephalus	ORPHA:955
Capillary Malformation-Arteriovenous Malformation	Neurogenic bladder, Hydrocephalus	ORPHA:137667
Pearson Syndrome	Glycosuria, Increased CSF lactate, Renal insufficiency, Proteinuria, Renal cyst, Lacticaciduria	ORPHA:699
Tetrasomy 9P	Recurrent urinary tract infections, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Hydro...	ORPHA:3310
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Short thumb, Broad hallux, Preaxial polydactyly, Radial deviation...	OMIM:149730
Simpson-Golabi-Behmel Syndrome, Type 1	Short distal phalanx of finger, Broad thumb, Umbilical hernia, Short finger, Short greater sciati...	OMIM:312870
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Spina bifida occulta, Renal malrotati...	ORPHA:500095
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus	ORPHA:220295
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Cone-shaped epiphysis, Postaxial polydactyly, Short clavicles, Brachydactyly, Short long bone, Po...	OMIM:617088
Rabson-Mendenhall Syndrome	Polydactyly	ORPHA:769
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Spondyloepimetaphyseal Dysplasia, Krakow Type	Hydrocephalus	OMIM:618162
Degcags Syndrome	Toe syndactyly, Short thumb, Preaxial hand polydactyly, Genu valgum, Polydactyly, Talipes equinov...	OMIM:619488
Limb Body Wall Complex	Myelomeningocele, Encephalocele, Hydrocephalus, Abnormality of the kidney, Spina bifida, Spina bi...	ORPHA:2369
Acrofacial Dysostosis 1, Nager Type	Unilateral renal agenesis, Aqueductal stenosis, Hydrocephalus	OMIM:154400
Marshall-Smith Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:602535
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Faciocardiomelic Syndrome	Hypoplastic pelvis, Slender long bone, Polydactyly	OMIM:612731
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hydronephrosis, Pancreatic cysts,...	ORPHA:2750
Sturge-Weber Syndrome	Hydrocephalus	ORPHA:3205
Isotretinoin-Like Syndrome	Hydrocephalus	ORPHA:2306
Peters Plus Syndrome	Multicystic kidney dysplasia, Ventriculomegaly, Renal duplication, Renal hypoplasia/aplasia, Hydr...	ORPHA:709
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Hydroureter, Nephroblastoma, Hydronephrosis, Ureteral duplication, ...	ORPHA:373
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Broad distal phalanx of finger, Broad thumb, Broad hallux, Abnormal proximal phalanx morphology o...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Broad distal phalanx of finger, Broad thumb, Broad hallux, Abnormal proximal phalanx morphology o...	ORPHA:353277
Jacobsen Syndrome	Hydronephrosis, Ventriculomegaly, Multicystic kidney dysplasia, Spina bifida	ORPHA:2308
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Postaxial polydactyly, Talipes equinovarus, Branchial anomaly, Hip dysplasia	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Postaxial polydactyly, Talipes equinovarus, Branchial anomaly, Hip dysplasia	ORPHA:352665
1P36 Deletion Syndrome	Ventriculomegaly, Hydronephrosis, Renal cyst, Abnormality of the kidney, Hypoplasia of penis, Hyp...	ORPHA:1606
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Ventriculomegaly, Hematuria, Decreased CSF 5-methyltetrahydrofolate concentration, Hydrocephalus,...	OMIM:619475
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Hypospadias, Hydrocephalus, Epispadias	ORPHA:2658
Microphthalmia, Syndromic 6	Toe syndactyly, Finger syndactyly, Thumb contracture, Single transverse palmar crease, Polydactyl...	OMIM:607932
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Hypoglycorrhachia	ORPHA:168577
Fraser Syndrome 1	Renal hypoplasia, Myelomeningocele, Encephalocele, Renal hypoplasia/aplasia, Hydrocephalus, Micro...	OMIM:219000
Gorlin Syndrome	Hydrocephalus	ORPHA:377
Distal 22Q11.2 Microduplication Syndrome	Unilateral renal agenesis, Hydrocephalus	ORPHA:261337
Alagille Syndrome 1	Focal segmental glomerulosclerosis, Renal hypoplasia, Multiple small medullary renal cysts, Renal...	OMIM:118450
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Micropenis, Renal hypoplasia, Hydrocephalus	OMIM:619321
Tetraamelia Syndrome 1	Hydrocephalus, Urethral atresia, Renal agenesis	OMIM:273395
Campomelic Dysplasia	Spinal dysraphism, Hydronephrosis, Hydrocephalus, Spina bifida, Hypospadias	OMIM:114290
Shprintzen-Goldberg Syndrome	Ventriculomegaly, Communicating hydrocephalus	ORPHA:2462
Loeys-Dietz Syndrome 1	Arachnodactyly, Talipes equinovarus, Postaxial polydactyly, Hydrocephalus, Postaxial hand polydac...	OMIM:609192
Alstrom Syndrome	Polydactyly	OMIM:203800
Neurocardiofaciodigital Syndrome	Polydactyly, Syndactyly	OMIM:619869
Trisomy 10P	Dandy-Walker malformation, Multiple renal cysts, Abnormality of the kidney	ORPHA:171929
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Renal hypoplasia, Ventriculomegaly, Hydronephrosis, Renal cyst, Hypoplasia of penis, Urethrovagin...	ORPHA:93271
Cerebrocostomandibular Syndrome	Horseshoe kidney, Renal cyst, Ectopic kidney	OMIM:117650
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Multiple renal cysts, Renal cell carcinoma, Epididymal cyst...	ORPHA:892
Osteogenesis Imperfecta	Ventriculomegaly, Nephrolithiasis, Hypercalciuria, Hydrocephalus, Noncommunicating hydrocephalus	ORPHA:666
Microphthalmia With Limb Anomalies	Horseshoe kidney, Hydrocephalus	ORPHA:1106
Autosomal Recessive Robinow Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Hypoplasia of penis	ORPHA:1507
Cockayne Syndrome A	Ventriculomegaly, Renal insufficiency, Proteinuria, Micropenis, Normal pressure hydrocephalus	OMIM:216400
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Renal cyst, Hypospadias, Dandy-Walker malformation	ORPHA:495875
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Oligosacchariduria, Recurrent urinary tract infections	ORPHA:309282
Kabuki Syndrome 1	Lateral ventricle dilatation, Crossed fused renal ectopia, Ureteropelvic junction obstruction, Hy...	OMIM:147920
Craniopharyngioma	Hydrocephalus	ORPHA:54595
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Mullegama-Klein-Martinez Syndrome	Clinodactyly of the 5th finger, Polydactyly	OMIM:301022
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Slender finger, Small hand, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly, C...	ORPHA:480880
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Hypospadias, Hydrocephalus, Epispadias	ORPHA:2556
Mend Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:401973
Williams Syndrome	Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Renal insufficiency, Vesi...	ORPHA:904
Spondylocarpotarsal Synostosis Syndrome	Renal cyst	OMIM:272460
Cryptococcosis	Hydrocephalus	ORPHA:1546
Beckwith-Wiedemann Syndrome	Nephropathy, Vesicoureteral reflux, Nephroblastoma, Nephrolithiasis, Hypercalciuria, Multiple ren...	ORPHA:116
Focal Dermal Hypoplasia	Myelomeningocele, Bifid ureter, Horseshoe kidney, Hydronephrosis, Spina bifida occulta, Hydroceph...	OMIM:305600
Biliary, Renal, Neurologic, And Skeletal Syndrome	Broad thumb, Neonatal death, Broad first metatarsal, Polydactyly, Postaxial polydactyly, Hydrocep...	OMIM:619534
Cockayne Syndrome B	Micropenis, Proteinuria, Renal insufficiency, Normal pressure hydrocephalus	OMIM:133540
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Displacement of the urethral meatus	ORPHA:1556
Chilton-Okur-Chung Neurodevelopmental Syndrome	Recurrent urinary tract infections, Crossed fused renal ectopia, Fetal pyelectasis, Mild fetal ve...	OMIM:619841
Distal Deletion 15Q	Micropenis, Abnormal localization of kidney, Multicystic kidney dysplasia, Hypospadias	ORPHA:1596
Meningioma	Urinary incontinence, Hydrocephalus	ORPHA:2495
Robinow Syndrome	Webbed penis, Multicystic kidney dysplasia, Hydronephrosis, Micropenis	ORPHA:97360
Gaucher Disease	Hematuria, Proteinuria, Ventriculomegaly, Hydrocephalus	ORPHA:355
Bardet-Biedl Syndrome	Chronic kidney disease, Horseshoe kidney, Vesicoureteral reflux, Polycystic ovaries, Hydronephros...	ORPHA:110
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Ventriculomegaly, Communicating hydrocephalus	OMIM:617011
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus	ORPHA:637
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Micropenis, Ventriculomegaly, Communicating hydrocephalus	ORPHA:457359
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Ventriculomegaly, Azoospermia, Hydrocephalus	ORPHA:2072
Costello Syndrome	Ventriculomegaly, Renal insufficiency, Hydrocephalus	OMIM:218040
Yunis-Varon Syndrome	Renal artery stenosis, Hydrocephalus, Micropenis, Renovascular hypertension, Hypospadias	ORPHA:3472
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydronephrosis, Abnormal renal morphology, Hydrocephalus, Renal hypoplasia/aplasia	ORPHA:363700
Fontaine Progeroid Syndrome	Micropenis, Hydrocephalus	OMIM:612289
Wiedemann-Rautenstrauch Syndrome	Recurrent urinary tract infections, Wide penis, Vesicoureteral reflux, Hydronephrosis, Hydrocepha...	ORPHA:3455
Cornelia De Lange Syndrome	Multicystic kidney dysplasia, Ventriculomegaly, Vesicoureteral reflux, Renal insufficiency, Hypop...	ORPHA:199
Wiedemann-Rautenstrauch Syndrome	Long penis, Hypospadias, Hydrocephalus, Dandy-Walker malformation	OMIM:264090
Acrofacial Dysostosis, Cincinnati Type	Ventriculomegaly, Hydronephrosis, Hydrocephalus, Aqueductal stenosis, Dandy-Walker malformation	OMIM:616462
Chromosome 1P36 Deletion Syndrome, Distal	Hydrocephalus, Lateral ventricle dilatation, Hypospadias, Ectopic kidney	OMIM:607872
Hydrolethalus Syndrome 1	Anencephaly, Hydronephrosis, Hypospadias, Dandy-Walker malformation, Severe hydrocephalus	OMIM:236680
Wolf-Hirschhorn Syndrome	Ventriculomegaly, Hypospadias, Hydrocephalus	OMIM:194190
Okamoto Syndrome	Hip dysplasia, Polydactyly	ORPHA:2729
Peters-Plus Syndrome	Renal hypoplasia, Ventriculomegaly, Hydronephrosis, Hydrocephalus, Ureteral duplication, Hypospadias	OMIM:261540
Baller-Gerold Syndrome	Spina bifida occulta, Hydrocephalus, Abnormality of the kidney	OMIM:218600
Townes-Brocks Syndrome	Renal hypoplasia, Renal insufficiency, Vesicoureteral reflux, Multiple renal cysts, Ectopic kidne...	ORPHA:857
Neurofibromatosis Type 1	Abnormality of the upper urinary tract, Hydrocephalus	ORPHA:636
Alobar Holoprosencephaly	Hydrocephalus, Neural tube defect	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Hydrocephalus, Neural tube defect	ORPHA:93926
Lobar Holoprosencephaly	Hydrocephalus, Neural tube defect	ORPHA:93924
Semilobar Holoprosencephaly	Hydrocephalus, Neural tube defect	ORPHA:220386
Autosomal Recessive Malignant Osteopetrosis	Hydrocephalus	ORPHA:667
C Syndrome	Horseshoe kidney, Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:1308
Proteus Syndrome	Enlarged polycystic ovaries, Renal cyst, Long penis, Enlarged kidney	ORPHA:744
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Ventriculomegaly, Hydrocephalus	OMIM:253280
Otopalatodigital Syndrome, Type Ii	Hydronephrosis, Hypospadias, Hydrocephalus, Spina bifida	OMIM:304120
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Ventriculomegaly, Renal agenesis, Hyposp...	OMIM:308205
Coffin-Siris Syndrome 12	Horseshoe kidney, Hypospadias, Noncommunicating hydrocephalus	OMIM:619325
Fetal Akinesia Deformation Sequence 1	Hydrocephalus	OMIM:208150
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Occipital encephalocele, Renal agenesis, Vesicoureteral reflux, Ure...	OMIM:164210
Genitopatellar Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Colpocephaly, Micropenis	OMIM:606170
Mucopolysaccharidosis Type 2	Communicating hydrocephalus	ORPHA:580
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus	ORPHA:3042
Mowat-Wilson Syndrome	Webbed penis, Multicystic kidney dysplasia, Ventriculomegaly, Vesicoureteral reflux, Renal duplic...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Webbed penis, Multicystic kidney dysplasia, Lateral ventricle dilatation, Vesicoureteral reflux, ...	ORPHA:261537
Branchiooculofacial Syndrome	Renal cyst, Hypospadias, Renal agenesis	OMIM:113620
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Webbed penis, Multicystic kidney dysplasia, Duplication of renal pelvis, Lateral ventricle dilata...	ORPHA:261552
Pallister-Killian Syndrome	Renal cyst, Ventriculomegaly, Hypospadias, Renal dysplasia	OMIM:601803
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus	OMIM:175780
Pmm2-Cdg	Proteinuria, Abnormal renal tubule morphology, Multiple renal cysts, Nephrotic syndrome, Dandy-Wa...	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

X-ray

Electroretinography 3

X-ray

X-ray

X-ray

Eye Morphology

Electrocardiogram (ECG)

Auditory Brain Stem Response

Human diseases caused by Ttbk2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data