Gene Summary

tau tubulin kinase 2
B930008N24Rik,  TTK,  2610507N02Rik

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Ttbk2em1(IMPC)J HOM   Early adult 0.00
prenatal lethality prior to heart atrial septation Ttbk2em1(IMPC)J HOM   E15.5 0.00
embryonic lethality prior to tooth bud stage Ttbk2em1(IMPC)J HOM   E12.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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


XRay Images Whole Body Dorso Ventral

8 Images


XRay Images Forepaw

8 Images

Electroretinography 3

Fundus file

11 Images


XRay Images Skull Dorso Ventral Orientation

8 Images


XRay Images Skull Lateral Orientation

8 Images


XRay Images Whole Body Lateral Orientation

8 Images

Eye Morphology

Images Ophthalmoscopy

4 Images

Electrocardiogram (ECG)

Waveform Image

15 Images

Auditory Brain Stem Response

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

7 Images

Human diseases caused by Ttbk2 mutations

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

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

The table below shows human diseases associated to Ttbk2 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Spinocerebellar Ataxia 11
Spinocerebellar Ataxia Type 11

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

Disease Similarity of
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
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
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
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
Hydrocephalus OMIM:148800
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Colpocephaly OMIM:614870
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
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
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
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
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
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
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
Hydrocephalus, Urinary bladder sphincter dysfunction ORPHA:137817
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia ORPHA:1166
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
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
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Familial Adenomatous Polyposis 4
Renal cyst, Ovarian cyst OMIM:617100
Crouzon Syndrome
Hydrocephalus ORPHA:207
Kleefstra Syndrome