Gene Summary

Name:
transmembrane protein 67
Synonyms:
b2b1163.1Clo,  b2b1291.1Clo,  5330408M12Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Tmem67em1(IMPC)J HOM   Early adult 0.00
increased grip strength Tmem67em1(IMPC)J HET Early adult 6.76×10-05
increased exploration in new environment Tmem67em1(IMPC)J HET Early adult 4.46×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Electroretinography 3

Fundus file

8 Images

Gross Morphology Embryo E9.5

Images

2 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

X-ray

XRay Images Forepaw

12 Images

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

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

8 Images

Electrocardiogram (ECG)

Waveform Image

15 Images

Human diseases caused by Tmem67 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 predicted to be associated to Tmem67 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Hypertrop... OMIM:615382
Genitopalatocardiac Syndrome
Transposition of the great arteries, Hypospadias, Right aortic arch, Renal cyst, Double outlet ri... OMIM:231060
Lissencephaly 5
Hypoplasia of the corpus callosum, Occipital encephalocele, Macrocephaly, Cerebellar vermis hypop... OMIM:615191
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Anencephaly, Encephalocele, Meningoce... OMIM:611134
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Reduced renal corticomedull... OMIM:617610
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Dysgyria, Type II lissencephaly, Abnormal cerebral white ... ORPHA:352682
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... OMIM:613854
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Hydrocephalus, Polymicrogyria, Cer... OMIM:604213
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Ciliary Dyskinesia, Primary, 44
Heterotaxy OMIM:618781
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu... OMIM:617912
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum... ORPHA:1908
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Abnormal coronary artery morphology, Abnormal aortic arch... ORPHA:860
Craniotelencephalic Dysplasia
Lissencephaly, Hydrocephalus, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum, C... ORPHA:1528
Frontal Encephalocele
Macrocephaly, Encephalocele, Hydrocephalus, Cerebral calcification, Spina bifida, Aplasia/Hypopla... ORPHA:1931
Heterotaxy, Visceral, 8, Autosomal
Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul... OMIM:617205
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle, Posterior fossa cyst at the fourth ventricle, Partial ab... OMIM:220200
Joubert Syndrome 14
Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Encephalocele, Meningocele, Cerebella... OMIM:614424
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Lissencephaly 8
Hypoplasia of the corpus callosum, Occipital encephalocele, Polymicrogyria, Type II lissencephaly... OMIM:617255
Joubert Syndrome 18
Occipital encephalocele, Retrognathia, Molar tooth sign on MRI, Intrahepatic biliary atresia, Ren... OMIM:614815
Pallister-Hall-Like Syndrome
Occipital encephalocele, Macrocephaly, Chiari type I malformation, Hydrocephalus, Hypothalamic ha... OMIM:241800
Subependymal Nodular Heterotopia
Occipital encephalocele, Nasofrontal encephalocele, Abnormal ethmoid bone morphology, Meningocele... ORPHA:101030
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Midline brainstem cleft, Hydrocephalus, Hypoplasia of the pons, Agenesis of corpus callosum, Abno... OMIM:617542
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Anomalous origin of left coronary artery from the pulmonary artery, Bi... OMIM:618845
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Macrocephaly at birth, Occipital encephalocele, Hydrocephalus, Type II lissencephaly, Cerebellar ... ORPHA:324416
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Left Isomerism, ... OMIM:619702
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Rhizomelic leg shortening, Dysgenesis of the cerebellar vermis, Elevated... ORPHA:397715
Meckel Syndrome 13
Occipital encephalocele, Molar tooth sign on MRI, Polycystic kidney dysplasia, Micrognathia, Cere... OMIM:617562
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Isolated Dandy-Walker Malformation
Dandy-Walker malformation, Aplasia/Hypoplasia of the corpus callosum, Encephalocele ORPHA:217
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Cerebellar cyst, Hydrocephalus, Polymicrogyria, Type II lissencephaly, O... ORPHA:370959
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Septopreoptic Holoprosencephaly
Megalencephaly, Abnormal septum pellucidum morphology, Ethmoidal encephalocele, Rhombencephalosyn... ORPHA:280195
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Type II lissencephaly, Neural tube defect OMIM:615041
Meckel Syndrome, Type 10
Occipital encephalocele, Molar tooth sign on MRI, Hypospadias, Anencephaly, Dandy-Walker malforma... OMIM:614175
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Abnormality of the urinary system, Occipital encephalocele, Agenesis of cerebellar vermis, Peripo... OMIM:213010
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Joubert Syndrome 16
Molar tooth sign on MRI, Nephronophthisis, Encephalocele, Dandy-Walker malformation, Renal cyst OMIM:614465
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Cerebellar agenesis, Holoprosencephaly... OMIM:617967
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Meningocele ORPHA:588
Neurocutaneous Melanocytosis
Renal hypoplasia/aplasia, Meningocele, Dandy-Walker malformation, Death in infancy, Chiari malfor... ORPHA:2481
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ... OMIM:615779
Meckel Syndrome, Type 2
Anencephaly, Encephalocele, Meningocele, Dandy-Walker malformation, Renal cyst, Bile duct prolife... OMIM:603194
Craniotelencephalic Dysplasia
Lissencephaly, Optic nerve hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Fronta... OMIM:218670
Triploidy
Macrocephaly, Abnormality of the gallbladder, Hypospadias, Hepatomegaly, Meningocele, Hydrocephal... ORPHA:3376
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Renal hypoplasia/aplasia, Hydranencephaly, Microcephaly, Cerebral cortical atrophy, Micrognathia,... ORPHA:2570
Fliedner-Zweier Syndrome
Hypoplasia of the corpus callosum, Unilateral renal agenesis, Meningocele, Cerebellar atrophy, Mi... OMIM:620511
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Renal cyst, Te... OMIM:617478
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... ORPHA:1455
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Thin corpus callosum, Cerebellar vermis hypoplasia, Cortical dysplasia, Hypoplasia of the brainst... OMIM:615771
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Mitral valve prolapse, Cerebral berry aneurysm, Hepatic cysts, Renal... OMIM:173900
Lissencephaly Due To Tuba1A Mutation
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Cerebellar vermis hypoplasia, Poly... ORPHA:171680
Chiari Malformation Type Ii
Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Agenesis of corpus callosum, ... OMIM:207950
Acalvaria
Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Spina bifida ORPHA:945
Joubert Syndrome 7
Molar tooth sign on MRI, Nephronophthisis, Encephalocele, Abnormal corpus callosum morphology, Br... OMIM:611560
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Interrupted aortic arch, Hydronephrosis, Tetralogy of Fallot... ORPHA:1727
Distal 7Q11.23 Microduplication Syndrome
Chiari malformation, Frontal encephalocele, Hydrocephalus ORPHA:261102
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at... OMIM:606217
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Optic nerve hypoplasia, Type II lissencephaly, Dysgenesis of the hippocampus, Lateral ventricle d... ORPHA:300570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hypoplasia of the corpus callosum, Retrognathia, Death in childhood, Macrocephaly, Encephalocele,... OMIM:614643
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Biparietal narrowing, Renal cyst, Short stature, Congenital hepatic fibrosis, Ventri... ORPHA:2031
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Microcepha... OMIM:609637
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Coach Syndrome 1
Occipital encephalocele, Cirrhosis, Nephronophthisis, Elevated circulating hepatic transaminase c... OMIM:216360
Neural Tube Defects, Susceptibility To
Urinary incontinence, Anencephaly, Spina bifida occulta, Hydrocephalus, Myelomeningocele OMIM:182940
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Choroid plexus cyst, Retrocerebellar cyst, Hypoplasia of the olfactor... ORPHA:1827
Partial Atrioventricular Septal Defect
Abnormal tricuspid valve morphology, Heterotaxy, Bacterial endocarditis, Coronary sinus enlargeme... ORPHA:1330
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Dandy-Walker malformation, Agenesis of corpus callosum, Orbita... OMIM:164180
Intellectual Developmental Disorder, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Dysgenesis of the cerebellar vermis, Macrocephaly, Hypospadias... OMIM:617751
Joubert Syndrome 2
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Nephronophthisis, Macrocephaly, Elo... OMIM:608091
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for... OMIM:620570
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Dandy-Walker Malformation With Postaxial Polydactyly
Macrocephaly, Hydrocephalus, Dandy-Walker malformation, Dilated fourth ventricle, Posterior fossa... OMIM:220220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar cyst, Encephalocele, Hydrocephalus, Type II lissencephaly, Death in infancy, Cerebella... OMIM:613150
Distal Deletion 13Q
Renal hypoplasia/aplasia, Anencephaly, Encephalocele, Microcephaly, Short stature, Holoprosenceph... ORPHA:1590
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Joubert Syndrome 9
Molar tooth sign on MRI, Encephalocele, Hepatic fibrosis, Ventriculomegaly, Stage 5 chronic kidne... OMIM:612285
Hartsfield Syndrome
Intrauterine growth retardation, Lobar holoprosencephaly, Aplasia/Hypoplasia of the corpus callos... ORPHA:2117
Microhydranencephaly, X-Linked
Microcephaly, Holoprosencephaly, Intrauterine growth retardation OMIM:306990
Joubert Syndrome With Renal Defect
Molar tooth sign on MRI, Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Polymicrogyr... ORPHA:220497
Absent Eyebrows And Eyelashes With Mental Retardation
Microcephaly, Encephalocele OMIM:200130
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Truncus arteriosus, Pulmonary artery atresi... OMIM:620294
Meckel Syndrome, Type 8
Occipital encephalocele, Enlarged kidney, Encephalocele, Polycystic kidney dysplasia, Microcephal... OMIM:613885
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Cerebral atrophy, Hyperintensity of cerebral white matter on MRI, Pontocerebellar atrophy, Retrog... OMIM:620428
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Pulmonary artery atres... OMIM:208530
Coarctation Of Aorta
Coarctation of aorta, Hypoplastic left heart OMIM:120000
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts, Dilatation of the cerebral artery OMIM:600666
Thanatophoric Dysplasia Type 2
Abnormality of the kidney, Macrocephaly, Encephalocele, Hydrocephalus, Short stature, Holoprosenc... ORPHA:93274
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... ORPHA:3384
Pseudoprogeria Syndrome
Spinal arachnoid cyst, Microcephaly, Short stature, Growth delay, Cranium bifidum occultum ORPHA:2985
Isolated Hemihyperplasia
Nephroblastoma, Myelomeningocele ORPHA:2128
Leber Congenital Amaurosis
Aplasia/Hypoplasia of the cerebellar vermis, Encephalocele ORPHA:65
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Atrioventricular canal defect, Patent ductus arteriosus, Right aortic arc... OMIM:618300
Lathosterolosis
Intrahepatic cholestasis, Cerebellar cortical atrophy, Hepatomegaly, Meningocele, Hypoplasia of p... ORPHA:46059
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Humero-Radial Synostosis
Microcephaly, Meningocele ORPHA:3265
Hemihyperplasia, Isolated
Nephroblastoma, Myelomeningocele OMIM:235000
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Renal insufficiency, Cardiomyopathy, Nephropathy, Atrial septal... ORPHA:1909
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Frontonasal Dysplasia 1
Anterior basal encephalocele, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Agenesis of... OMIM:136760
Oculoauriculofrontonasal Syndrome
Macrocephaly, Encephalocele, Microcephaly, Micrognathia, Pericallosal lipoma ORPHA:398156
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Lissencephaly 9 With Complex Brainstem Malformation
Hypoplasia of the corpus callosum, Enlarged tectum, Cerebellar vermis hypoplasia, Cerebellar hemi... OMIM:618325
Developmental Delay, Language Impairment, And Ocular Abnormalities
Microcephaly, Hydronephrosis, Myelomeningocele, Short stature OMIM:620141
Arima Syndrome
Tubulointerstitial fibrosis, Renal sodium wasting, Stage 5 chronic kidney disease, Hepatic steato... OMIM:243910
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... OMIM:618061
Joubert Syndrome With Oculorenal Defect
Molar tooth sign on MRI, Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Nephropathy,... ORPHA:2318
Cerebrocostomandibular Syndrome
Hydranencephaly, Meningocele, Cerebral calcification, Porencephalic cyst, Myelomeningocele, Spina... ORPHA:1393
Joubert Syndrome 1
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Macrocephaly, Elongated superior ce... OMIM:213300
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Recurrent urinary tract infections, Polycystic kidney dysplasia, Multiple... OMIM:613095
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Hydranencephaly, Renal cyst, Renal hypoplasia, Ureteral agenesis, Neonatal death, Mic... OMIM:236500
Meckel Syndrome, Type 9
Occipital encephalocele, Multicystic kidney dysplasia OMIM:614209
Cocaine Embryofetopathy
Abnormality of the urinary system, Encephalocele ORPHA:1911
Diaphanospondylodysostosis
Multiple renal cysts, Myelomeningocele ORPHA:66637
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Microcephaly, Cerebral cortical atrophy, Holoprosencephaly ORPHA:2523
Renal Tubular Dysgenesis
Proximal tubulopathy, Nephropathy, Tetralogy of Fallot, Multiple renal cysts, Renotubular dysgenesis ORPHA:3033
Meckel Syndrome, Type 3
Occipital encephalocele, Hepatomegaly, Hydrocephalus, Dandy-Walker malformation, Bile duct prolif... OMIM:607361
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hypoplasia of the corpus callosum, Occipital encephalocele, Hydrocephalus, Dandy-Walker malformat... OMIM:236670
Autosomal Recessive Spondylocostal Dysostosis
Macrocephaly, Hypospadias, Spina bifida occulta, Meningocele, Abnormality of the ureter, Microcep... ORPHA:2311
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cerebellar cyst, Encephalocele, Lissencephaly, Hydrocephalus, Polymicrogyria, Type II lissencepha... OMIM:253800
Lateral Meningocele Syndrome
Chiari type I malformation, Dural ectasia, Meningocele, Hydrocephalus, Neurogenic bladder, Short ... OMIM:130720
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Anencephaly, Cerebellar vermis hypopl... OMIM:616546
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Schisis Association
Anencephaly, Encephalocele, Spina bifida, Microcephaly, Renal agenesis ORPHA:63862
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Intrauterine growth retardation, Myelomeningocele ORPHA:1914
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Intrauterine growth retardation, Agenesis of corpus callosum, Agenesis of cerebellar vermis, Ence... ORPHA:228390
Joubert Syndrome With Ocular Defect
Molar tooth sign on MRI, Encephalocele, Cerebellar vermis hypoplasia, Polymicrogyria, Hydrocephal... ORPHA:220493
Parietal Foramina 2
Encephalocele OMIM:609597
Craniofacial Microsomia 2
Micrognathia, Dermal sinus tract OMIM:620444
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus ORPHA:228190
Parietal Foramina 3
Encephalocele OMIM:609566
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Meningocele ORPHA:1759
Parietal Foramina 1
Macrocephaly, Encephalocele OMIM:168500
Scalp Defects-Postaxial Polydactyly Syndrome
Encephalocele ORPHA:1003
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Cirrhosis, Macrocephaly, Elevated circulating hepatic transaminase conce... ORPHA:1454
Vissers-Bodmer Syndrome
Short stature, Holoprosencephaly, Intrauterine growth retardation, Decreased head circumference OMIM:619033
Dk Phocomelia Syndrome
Encephalocele OMIM:223340
Congenital Vertical Talus
Myelomeningocele ORPHA:178382
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Orofaciodigital Syndrome Vi
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Polymicrogyria, Hypothalamic hamartoma, Po... OMIM:277170
Orofaciodigital Syndrome I
Hypothalamic hamartoma, Myelomeningocele, Microcephaly, Ovarian cyst, Abnormal cortical gyration,... OMIM:311200
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Curry-Jones Syndrome
Megalencephaly, Chiari type I malformation, Polymicrogyria, Lipomyelomeningocele, Hemimegalenceph... OMIM:601707
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
Isolated Posterior Meningocele
Increased head circumference, Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocel... ORPHA:268810
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Death in infancy, Hypoplasia of the pons, Simplified gyral pattern, Agenesis of co... OMIM:619301
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
15Q24 Microdeletion Syndrome
Postnatal growth retardation, Hypospadias, Myelomeningocele, Microphallus, Microcephaly, Short st... ORPHA:94065
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation, Type II lissencep... OMIM:615287
Wildervanck Syndrome
Meningocele ORPHA:3456
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc... OMIM:605376
Pseudotrisomy 13 Syndrome
Encephalocele, Hydrocephalus, Polymicrogyria, Microcephaly, Renal hypoplasia, Renal agenesis, Hol... OMIM:264480
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Disproportionate short-limb short stature, Microcephaly, Micrognathia, N... OMIM:224410
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic arch, Abnormal left ve... ORPHA:1457
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Perineal hypospadias, Tetralogy of Fallot, Microphallus OMIM:615542
Ossification Of The Posterior Longitudinal Ligament Of Spine
Myelopathy OMIM:602475
Joubert Syndrome 15
Exencephaly, Molar tooth sign on MRI, Nephronophthisis, Micropenis OMIM:614464
Intellectual Developmental Disorder, Autosomal Recessive 68
Periventricular leukomalacia, Hydrocephalus, Cerebellar atrophy, Microcephaly, Hypoplasia of the ... OMIM:618302
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Death in infancy, Simplified gyral pattern, Agenesis of corpus callosum, Cerebella... OMIM:619302
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Ureteral duplication, Double inlet left ventricle, Dextrocardia, P... OMIM:270100
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Micrognathia, Agenesis of corpus callosum, V... OMIM:614120
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Stillbirth, Molar tooth sign on MRI, Rhizomelia, Encephalocele, Dandy-Walker malformation, Relati... OMIM:616300
Caudal Duplication
Ureteral duplication, Renal hypoplasia/aplasia, Myelomeningocele, Spina bifida, Abnormal penis mo... ORPHA:1756
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atresia, Atrial septal... ORPHA:2248
Arachnoid Cyst
Urinary incontinence, Encephalocele, Hydrocephalus, Leptomeningeal enhancement, Urinary bladder s... ORPHA:2356
Lateral Meningocele Syndrome
Dural ectasia, Craniofacial hyperostosis, Meningocele, Micrognathia, Malar flattening, Umbilical ... ORPHA:2789
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Global brain atrophy, Cerebellar atrophy, Hypoplasia of the pons, Mic... OMIM:618276
Coach Syndrome 2
Molar tooth sign on MRI, Elevated circulating hepatic transaminase concentration, Portal fibrosis... OMIM:619111
Czeizel-Losonci Syndrome
Congenital megaureter, Spina bifida occulta, Hydrocephalus, Myelomeningocele, Spina bifida, Micro... ORPHA:2437
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Absent septum... ORPHA:2182
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Esophagea... OMIM:263200
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Advanced eruption of teeth, Anencephaly, Hypospadias, Encephalocele, D... OMIM:619148
Distal Monosomy 7Q36
Hypoplasia of penis, Microcephaly, Short stature, Micrognathia, Holoprosencephaly ORPHA:1636
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Holoprosencephaly-Postaxial Polydactyly Syndrome
Renal hypoplasia/aplasia, Hypospadias, Encephalocele, Hypoplasia of penis, Hydrocephalus, Abnorma... ORPHA:2166
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Isomerism, Partial anomalous pulmonary venous return, Dextrocardia, Patent ductus arteriosus, Ven... OMIM:619657
Double Outlet Right Ventricle
Heterotaxy, Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Coarctation of aorta... ORPHA:3426
Band Heterotopia
Macrocephaly, Hydrocephalus, Polymicrogyria, Hypoplastic hippocampus, Agenesis of corpus callosum... OMIM:600348
Chromosome 3Q13.31 Deletion Syndrome
Ventriculomegaly, Micropenis, Agenesis of corpus callosum, Alobar holoprosencephaly OMIM:615433
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Enlarged Parietal Foramina
Occipital encephalocele, Encephalomalacia, Myelomeningocele ORPHA:60015
Joubert Syndrome
Encephalocele, Cerebellar vermis hypoplasia, Polymicrogyria, Hydrocephalus, Biparietal narrowing,... ORPHA:475
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar cyst, Death in childhood, Lissencephaly, Hydrocephalus, Dandy-Walker malformation, Typ... OMIM:613153
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Intrauterine growth retardation, Frontal encephalocele, Agenesis of corpus callosum ORPHA:521308
Ring Chromosome 21 Syndrome
Microcephaly, Holoprosencephaly, Short stature, Azoospermia ORPHA:1445
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Renal cyst, Pulmonic stenosis, Renal hypoplasia, Tetralogy of ... OMIM:610205
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Thin corpus callosum, Optic nerve hypoplasia, Neurogenic bladder, Pachygyria, Abnormality of the ... ORPHA:572013
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Decreased head circumference, Abnormal cerebral white matter morpholo... ORPHA:500166
Holoprosencephaly 11
Microcephaly, Holoprosencephaly, Agenesis of corpus callosum OMIM:614226
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus OMIM:604381
Scimitar Syndrome
Mitral atresia, Abnormal heart morphology, Interrupted inferior vena cava with azygous continuati... ORPHA:185
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Duplication Of The Pituitary Gland
Retrognathia, Supernumerary tooth, Encephalocele, Abnormal midbrain morphology, Microcephaly, Abn... ORPHA:314621
Waardenburg Syndrome Type 1
Mandibular prognathia, Spina bifida, Meningocele ORPHA:894
Iniencephaly
Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Mandibular apla... ORPHA:63259
Ritscher-Schinzel Syndrome 1
Hypospadias, Pulmonic stenosis, Aortic valve stenosis, Hydronephrosis, Tetralogy of Fallot, Doubl... OMIM:220210
Aorto-Ventricular Tunnel
Aortic root aneurysm, Abnormal heart valve morphology, Ventricular hypertrophy, Abnormal aortic m... ORPHA:3400
Spondylocostal Dysostosis 4, Autosomal Recessive
Spina bifida occulta, Hydrocephalus, Chiari type II malformation, Neurogenic bladder, Myelomening... OMIM:613686
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Hydrocephalus, Miscarriage, Microcephaly, Micrognathia, Severe short stature ORPHA:1865
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin... OMIM:145001
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypoplastic left heart ORPHA:3316
Feingold Syndrome Type 1
Abnormality of the kidney, Tricuspid atresia, Interrupted aortic arch, Vesicoureteral reflux, Tri... ORPHA:391641
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Holoprosencephaly, Absent septum pellucidum OMIM:601357
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Vesicoureteral reflux, Abnormal aortic morphology, Tetralogy of Fallot,... ORPHA:1166
Autosomal Recessive Cutis Laxa Type 2A
Secondary microcephaly, Dysplastic corpus callosum, Postnatal growth retardation, Cerebellar verm... ORPHA:357058
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Hepatomegaly, Renal cyst, Neonatal death, Colpocephaly, Pachygyria OMIM:614870
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Retrognathia, Optic nerve hypoplasia, Cerebellar atrophy, Abnormal periventricular white matter m... ORPHA:468631
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Holoprosencephaly 7
Semilobar holoprosencephaly, Macrocephaly, Alobar holoprosencephaly, Hydrocephalus, Microcephaly,... OMIM:610828
Cardiac-Urogenital Syndrome
Enlarged kidney, Mesocardia, Partial anomalous pulmonary venous return, Dextrocardia, Penoscrotal... OMIM:618280
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilateral superior vena... OMIM:306955
Recombinant Chromosome 8 Syndrome
Pulmonic stenosis, Hydronephrosis, Tetralogy of Fallot, Patent ductus arteriosus, Double outlet r... OMIM:179613
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Global brain atrophy, Cervical myelopathy, Death in childhood, Cerebral white matter atrophy, Cer... OMIM:617186
Heart Defects, Congenital, And Other Congenital Anomalies
Perimembranous ventricular septal defect, Transposition of the great arteries, Total absence of t... OMIM:600001
Griscelli Syndrome
Jaundice, Hepatomegaly, Encephalocele, Hydrocephalus, Short stature, Hepatitis ORPHA:381
Distal Triplication 15Q
Abnormality of the kidney, Hypoplastic aortic arch, Polycystic kidney dysplasia, Abnormal heart m... ORPHA:314588
Meckel Syndrome, Type 6
Occipital encephalocele, Anencephaly, Hydrocephalus, Aplasia of the bladder, Renal cyst, Bile duc... OMIM:612284
Exostoses, Multiple, Type Ii
Short stature, Cervical myelopathy OMIM:133701
Exostoses, Multiple, Type I
Short stature, Cervical myelopathy OMIM:133700
Meckel Syndrome, Type 1
Occipital encephalocele, Anencephaly, Microcephaly, Intrauterine growth retardation, Ventriculome... OMIM:249000
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly, Renal cyst, Bile duct proliferation OMIM:611561
Knobloch Syndrome 1
Cerebral atrophy, Occipital encephalocele, Spina bifida occulta, Duplicated collecting system, Po... OMIM:267750
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Hypoplasia of penis, Mandibular aplasia, Holoprosencephaly, Agenesis of corpus callosum, Aplasia/... ORPHA:990
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal brainstem morphology, Short stature, Abnorm... ORPHA:1532
Pagod Syndrome
Renal hypoplasia/aplasia, Encephalocele, Meningocele, Spina bifida, Microcephaly, Death in infanc... ORPHA:991
Mental retardation, x-linked, syndromic, Turner type
Macrocephaly, Holoprosencephaly OMIM:300706
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Abnormal periventricular white matter morphology, Dilated fourth ventricle, Abnormal cerebral whi... OMIM:613443
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... ORPHA:261243
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Retrocerebellar cyst, Dilated fourth v... OMIM:614831
Cerebrooculonasal Syndrome
Hypoplasia of the corpus callosum, Postnatal growth retardation, Macrocephaly, Encephalocele, Cer... OMIM:605627
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dilatation of the bladder, Dysplastic tricuspid valve, Bicuspid aortic valve, Dilatation of the r... OMIM:265380
Severe X-Linked Intellectual Disability, Gustavson Type
Severe postnatal growth retardation, Dandy-Walker malformation, Vesicoureteral reflux, Dilated fo... ORPHA:3078
Masa Syndrome
Macrocephaly, Hydrocephalus, Microcephaly, Short stature, Agenesis of corpus callosum, Ventriculo... OMIM:303350
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Rhizomelia, Agenesis of corpus callosum OMIM:166990
Otopalatodigital Syndrome Type 2
Hypospadias, Encephalocele, Hydrocephalus, Myelomeningocele, Hypoplastic frontal sinuses, Uretera... ORPHA:90652
Frontorhiny
Encephalocele, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Basal encephalocele, Peric... ORPHA:391474
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Neonatal short-limb short stature, Encephalocele, Hydrocephalus, Micrognathia, Severe short statu... OMIM:224400
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Cerebellar hypoplasia, Cerebellar vermis atrophy, Short stature OMIM:213200
Frontofacionasal Dysplasia
Hypoplasia of the corpus callosum, Hypoplasia of olfactory tract, Encephalocele, Short stature ORPHA:1791
Pai Syndrome
Aplasia/Hypoplasia of the corpus callosum, Encephalocele ORPHA:1993
Holoprosencephaly 9
Agenesis of incisor, Thin corpus callosum, Abnormal cortical gyration, Alobar holoprosencephaly, ... OMIM:610829
Intellectual Developmental Disorder, Autosomal Dominant 70
Hypoplasia of the corpus callosum, Retrognathia, Postnatal macrocephaly, Chiari type I malformati... OMIM:620157
Vacterl/Vater Association
Occipital encephalocele, Abnormality of the gallbladder, Ectopic kidney, Hypospadias, Hypoplasia ... ORPHA:887
Asparagine Synthetase Deficiency
Hypoplasia of the corpus callosum, Global brain atrophy, Thin corpus callosum, Cerebellar vermis ... OMIM:615574
Holoprosencephaly 14
Aqueductal stenosis, Subependymal cysts, Macrocephaly, Alobar holoprosencephaly, Hydrocephalus, D... OMIM:619895
Microhydranencephaly
Hydranencephaly, Microcephaly, Short stature, Growth delay, Pachygyria, Agenesis of corpus callos... OMIM:605013
Meckel Syndrome
Ureteral duplication, Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Pancr... ORPHA:564
Frontonasal Dysplasia 2
Hypoplasia of the corpus callosum, Encephalocele, Cerebellar vermis hypoplasia, Microcephaly, Age... OMIM:613451
Poretti-Boltshauser Syndrome
Cerebellar cyst, Cerebellar vermis hypoplasia, Abnormal periventricular white matter morphology, ... OMIM:615960
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot... OMIM:614980
Adams-Oliver Syndrome
Periventricular leukomalacia, Cirrhosis, Encephalocele, Hydrocephalus, Porencephalic cyst, Portal... ORPHA:974
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of... ORPHA:99050
Joubert Syndrome 21
Hypoplasia of the corpus callosum, Occipital encephalocele, Encephalocele, Elongated superior cer... OMIM:615636
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Polymicrogyria, Microcephaly, Microgna... OMIM:225790
Slc35A2-Cdg
Transient nephrotic syndrome, Cerebral atrophy, Hypoplasia of the corpus callosum, Elevated circu... ORPHA:356961
Orofaciodigital Syndrome Xiv
Epispadias, Occipital encephalocele, Hypoplasia of the corpus callosum, Supernumerary tooth, Mola... OMIM:615948
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Pachygyria OMIM:614173
49,Xxxxy Syndrome
Hypoplasia of the corpus callosum, Renal hypoplasia/aplasia, Azoospermia, Hypoplasia of penis, De... ORPHA:96264
Pentalogy Of Cantrell
Anencephaly, Hypospadias, Encephalocele, Hydrocephalus, Renal dysplasia, Renal agenesis, Absent g... ORPHA:1335
Bardet-Biedl Syndrome 16
Renal cyst, Renal agenesis, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615993
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Descending thoracic aorta ane... ORPHA:229
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Monosomy 18P
Microcephaly, Carious teeth, Micrognathia, Short stature, Holoprosencephaly ORPHA:1598
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, A... ORPHA:370022
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Enlarged kidney, Polycystic kidney dysplasia, Pancreatic cysts, Aortic va... OMIM:208540
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Hydronephrosis ORPHA:251076
Zaki Syndrome
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Microc... OMIM:619648
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Interrupted aortic arch, Pulmonary artery atresia,... OMIM:192430
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hypospadias, Hydrocephalus, Microphallus, Micrognathia, Natal tooth, Holoprosenc... OMIM:612651
Microphthalmia/Coloboma 5
Holoprosencephaly OMIM:611638
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Secondary microcephaly, Hepatomegaly, Ectopic kidney, Death in infancy, Neonatal death, Cerebella... OMIM:613730
Trisomy 17P
Patent ductus arteriosus, Hypoplasia of penis, Polycystic kidney dysplasia, Aortic valve stenosis... ORPHA:261290
Joubert Syndrome 39
Cerebellar vermis hypoplasia, Polycystic kidney dysplasia, Occipital encephalocele, Molar tooth s... OMIM:619562
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Persistent left superior vena cava, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arterio... ORPHA:3304
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Ventricular septal defect OMIM:616920
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Dilatation of the cerebral artery, Hematuria, Decreased glomerular filtration ra... ORPHA:730
Amish Lethal Microcephaly
Hepatomegaly, Cerebellar vermis hypoplasia, Organic aciduria, Spina bifida, Microcephaly, Death i... ORPHA:99742
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Hypoplasia of the corpus callosum, Cervical myelopathy, Cerebellar atrophy, Sho... OMIM:619260
Aortic Aneurysm, Familial Thoracic 4
Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, Posterior cerebral art... OMIM:132900
Short-Rib Thoracic Dysplasia 12
Macrocephaly, Hepatomegaly, Anencephaly, Periportal fibrosis, Hydrocephalus, Renal hypoplasia, Ne... OMIM:269860
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Macrocephaly, Short... ORPHA:166024
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar vermis atrophy, Cerebellar atrophy, Dilated fourth ventricle, Short stature, Diffuse c... ORPHA:1170
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia... OMIM:314390
Trisomy 18
Anencephaly, Abnormality of the upper urinary tract, Spina bifida, Microcephaly, Short stature, G... ORPHA:3380
Holoprosencephaly
Macrocephaly, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Hypoplasia of penis, Hydr... ORPHA:2162
Lambotte Syndrome
Microcephaly, Semilobar holoprosencephaly, Retrognathia, Intrauterine growth retardation OMIM:245552
Renpenning Syndrome
High, narrow palate, Hypospadias, Heterotaxy, Anal atresia, Cleft palate ORPHA:3242
Joubert Syndrome 5
Occipital encephalocele, Molar tooth sign on MRI, Nephronophthisis, Aplasia/Hypoplasia of the cer... OMIM:610188
Developmental And Epileptic Encephalopathy 99
Frontotemporal cerebral atrophy, Thin corpus callosum, Atrophy/Degeneration affecting the brainst... OMIM:619606
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplasia of right ventricle, Transposition of the great arteries, Double outlet left ventricle,... ORPHA:2255
Corpus Callosum, Partial Agenesis Of, X-Linked
Hypoplasia of the corpus callosum, Inferior cerebellar vermis hypoplasia, Hydrocephalus, Microcep... OMIM:304100
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Dilated fourth ventricle, Cerebellar vermis atrophy OMIM:619054
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele OMIM:614416
Chromosome 1Q41-Q42 Deletion Syndrome
Microcephaly, Short stature, Holoprosencephaly, Cerebellar hypoplasia, Ventriculomegaly OMIM:612530
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Intestinal malrotation, Multicystic kidney dysplasia ORPHA:3032
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Aortic aneurysm, Abnormal renal morphology, Patent foramen ovale, Persistent left superior vena c... ORPHA:477817
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Long penis, Polycystic kidney dysplasia, Cleft palate, Abnormal localiz... ORPHA:1988
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, Hypoplasia of penis, Hydrocephalus, Growth delay, Holoprosencephaly, Agenesis of cor... ORPHA:77298
Mosaic Variegated Aneuploidy Syndrome 1
Postnatal growth retardation, Hypospadias, Multicystic kidney dysplasia, Hydrocephalus, Dandy-Wal... OMIM:257300
Agnathia-Otocephaly Complex
Micrognathia, Holoprosencephaly, Mandibular aplasia, Agenesis of corpus callosum OMIM:202650
Spinocerebellar Ataxia, Autosomal Recessive 33
Dilated fourth ventricle, Cerebellar hypoplasia, Microcephaly, Simplified gyral pattern OMIM:620208
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Hydronephrosis, Agenesis of corpus callosu... OMIM:617127
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:613780
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Dilatation of the cerebral artery OMIM:174050
Branchiootorenal Syndrome 1
Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal agenesis, Polycyst... OMIM:113650
Mirror Movements 3
Situs inversus totalis OMIM:616059
Ciliary Dyskinesia, Primary, 14
Situs inversus totalis, Heterotaxy OMIM:613807
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Hypospadias, Patent foramen ovale, Pulmonary artery atresia, Tetralogy of... OMIM:618316
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Joubert Syndrome 6
Molar tooth sign on MRI, Nephronophthisis, Elongated superior cerebellar peduncle, Cerebellar ver... OMIM:610688
Halperin-Birk Syndrome
Semilobar holoprosencephaly, Death in childhood, Micrognathia, Colpocephaly, Agenesis of corpus c... OMIM:618651
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Atrial septal defect, Abnormal heart morphology, Tetralogy of... OMIM:614954
Sacral Defect With Anterior Meningocele
Myeloschisis, Meningocele, Hydrocephalus, Neurogenic bladder, Dermal sinus tract, Myelomeningocel... OMIM:600145
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia, Abnormal heart morphology OMIM:263210
Phaver Syndrome
Intrauterine growth retardation, Myelomeningocele ORPHA:2876
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the corpus callosum, Cavum septum pellucidum, Abnormal brainstem morphology, Polymi... ORPHA:300573
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Epispadias, Abnormal cortical gyration, Hypospadias, Encephalocele, Polymicrogyria, Pachygyria, L... ORPHA:2211
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Secondary microcephaly, Dysplastic corpus callosum, Reduced cerebral white matter volume, Hyperin... OMIM:620317
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Right aortic arch, Dextrocardia OMIM:617577
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Atrial septal defect, Polycystic kidney dysplasia OMIM:608776
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Hypertrophic cardiomyopathy, Renal cyst, Hyperechoge... OMIM:619902
Meckel Syndrome 14
Occipital encephalocele, Retrognathia, Polycystic kidney dysplasia, Micrognathia, Holoprosencepha... OMIM:619879
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal brainstem morphology, Abnormal basa... ORPHA:255182
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Right aor... OMIM:620642
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst, Dilatation of the cerebral artery, Lacunar stroke, Re... OMIM:611773
22Q11.2 Deletion Syndrome
Hypospadias, Cholelithiasis, Meningocele, Hydrocephalus, Polycystic kidney dysplasia, Abnormal de... ORPHA:567
Trisomy 8Q
Micrognathia, Displacement of the urethral meatus, Myelomeningocele, Hypoplasia of penis ORPHA:1752
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Thin corpus callosum, Death in childhood, Abnormal dentate nucleus morphology, Microcephaly, Hypo... OMIM:619517
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Stomach cancer, Ovarian dermoid cyst, Renal cyst, C... ORPHA:480536
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplasia of the corpus callosum, Dysgenesis of the basal ganglia, Hypoplastic anterior commissu... OMIM:600638
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta OMIM:212090
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hy... OMIM:108900
Congenital Disorder Of Glycosylation, Type Ia
Death in childhood, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cerebe... OMIM:212065
Microform Holoprosencephaly
Hypoplasia of penis, Microcephaly, Renal agenesis, Short stature, Holoprosencephaly, Agenesis of ... ORPHA:280200
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Cerebral atrophy, Hypoplastic hippocampus, Agenesis of corpus callosum, Ventriculomegaly, Partial... ORPHA:85179
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Cerebellar atrophy, Death in infancy, Microcephaly, Colpocephaly, Intr... OMIM:270400
Mosaic Variegated Aneuploidy Syndrome
Dandy-Walker malformation, Intrauterine growth retardation, Microcephaly, Short stature, Microgna... ORPHA:1052
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Vesicoureteral reflux, Hydronephrosis, Patent ductus arteriosus, Abnorma... ORPHA:250989
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Ascending tubular aorta aneurysm, Aort... ORPHA:449400
Medullary cystic kidney disease 2
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro... OMIM:603860
Acromelic Frontonasal Dysostosis
Hypoplasia of the corpus callosum, Encephalocele, Cavum septum pellucidum, Optic nerve hypoplasia... OMIM:603671
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Abnormal atrial arrangement, Abnorma... ORPHA:244
Pontocerebellar Hypoplasia Type 2
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Cerebellar cyst, Abnormal cortical... ORPHA:2524
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Postnatal growth retardation, Progressive microcephaly, Optic nerve hypoplasia, Dilated fourth ve... OMIM:300749
Fetal Encasement Syndrome
Increased urinary 8-oxo-7,8-dihydroguanosine level, Tetralogy of Fallot, Horseshoe kidney OMIM:613630
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Ascending aortic dissection, Descending aortic dissection, Coronary a... OMIM:615436
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Hypoplasia of the corpus callosum, Semilobar holoprosencephaly, Elevated circulating alanine amin... OMIM:618500
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Myoglobinuria, Polycystic kidney dyspla... ORPHA:228308
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Spina bifida occulta, Dandy-Walker malformation, Optic nerve hypoplasia, Hypoplasia of the pons, ... OMIM:618736
Craniofacial Dyssynostosis With Short Stature
Hypoplasia of the corpus callosum, Chiari type I malformation, Hypospadias, Hydrocephalus, Short ... OMIM:218350
16P13.11 Microdeletion Syndrome
Microcephaly, Short stature, Holoprosencephaly, Agenesis of corpus callosum, Ventriculomegaly ORPHA:261236
Craniofacioskeletal Syndrome
Hypospadias, Interrupted aortic arch, Hydronephrosis, Patent ductus arteriosus, Atrial septal def... OMIM:300712
Cloacal Exstrophy
Renal hypoplasia/aplasia, Hydroureter, Ectopic kidney, Hypoplasia of penis, Vesicoureteral reflux... ORPHA:93929
Holoprosencephaly-Caudal Dysgenesis Syndrome
Microcephaly, Renal insufficiency, Holoprosencephaly ORPHA:2165
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Hepatomegaly, Cerebellar vermis hypoplasia, Myoglobinuria, Pol... ORPHA:157
Joubert Syndrome 8
Occipital encephalocele, Molar tooth sign on MRI, Hepatomegaly, Prolonged neonatal jaundice OMIM:612291
Alg3-Cdg
Hypoplasia of the corpus callosum, Decreased liver function, Neural tube defect, Dandy-Walker mal... ORPHA:79321
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebral atrophy, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Cerebellar atrophy, ... ORPHA:572798
Joubert Syndrome 30
Molar tooth sign on MRI, Dandy-Walker malformation, Polymicrogyria, Cerebellar atrophy, Agenesis ... OMIM:617622
Dural Sinus Malformation
Macrocephaly, Hydrocephalus, Hypoplasia of the frontal lobes, Abnormal cerebellum morphology, Cer... ORPHA:97339
Atelosteogenesis, Type I
Stillbirth, Rhizomelia, Encephalocele, Disproportionate short-limb short stature, Micrognathia, N... OMIM:108720
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Antenatal intracerebral hemorrhage, Long-chain dicarboxyli... OMIM:608836
Ataxia-Telangiectasia-Like Disorder
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cerebellar atrophy, Short stature ORPHA:251347
Prune Belly Syndrome
Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,... ORPHA:2970
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele OMIM:614195
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Macrocephaly, Hydrocephalus, Hypoplasia of the maxilla, Short stature, Malar flattening, Agenesis... OMIM:109120
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Dysplastic corpus callosum OMIM:613162
Verheij Syndrome
Cerebral atrophy, Retrognathia, Optic nerve hypoplasia, Renal cyst, Microcephaly, Renal hypoplasi... OMIM:615583
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Retrognathia, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Hydrocephalus, Abnormal br... ORPHA:163961
Isolated Exencephaly
Abnormal facial skeleton morphology, Hypoplasia of the frontal bone, Holoprosencephaly, Agenesis ... ORPHA:563612
Genitourinary And/Or Brain Malformation Syndrome
Secondary microcephaly, Dysplastic corpus callosum, Macrocephaly, Hypospadias, Polymicrogyria, Ur... OMIM:618820
Phocomelia, Schinzel Type
Disproportionate short stature, Meningocele, Hypoplasia of penis, Micrognathia, Intrauterine grow... ORPHA:2879
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypoplasia of the corpus callosum, Macrocephaly, Hypospadias, Cerebellar vermis hypoplasia, Vesic... OMIM:616975
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar cyst, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Optic nerve hypoplasia, Hy... OMIM:615181
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
3-Methylglutaconic aciduria, Abnormal renal collecting system morphology, Hypospadias, Interrupte... ORPHA:17
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Cerebral atrophy, Hypoplasia of the corpus callosum, Periventricular leukomalacia, Dysplastic cor... OMIM:616900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Vascular dilatation, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Neph... OMIM:617056
Aortic Valve Disease 3
Aortic root aneurysm, Aortic valve stenosis, Ascending aortic dissection, Bicuspid aortic valve, ... OMIM:618496
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Cerebral white matter atrophy ORPHA:599373
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Optic nerve hypoplasia OMIM:607597
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short uvula, Hypospadias, Polycystic kidney dysplasia, High palate, Renal cyst, Renal hypoplasia,... OMIM:614091
Meacham Syndrome
Situs inversus totalis, Transposition of the great arteries, Hypoplasia of penis, Ventricular sep... ORPHA:3097
Trisomy 1Q
Macrocephaly, Congenital megaureter, Hydrocephalus, Hydronephrosis, Agenesis of corpus callosum, ... ORPHA:261344
Meacham Syndrome
Enlarged kidney, Transposition of the great arteries, Dextrocardia, Cardiac total anomalous pulmo... OMIM:608978
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Interrupted aortic arch, Hydronephrosis, Intracranial hemorrhage, Patent ductus arte... ORPHA:163979
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Hydrocephalus, Renal cyst, Abnormality of the ureter, Cerebral cortical... ORPHA:1834
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Right aortic arch, Pulmonary ... ORPHA:2326
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Hypoplasia of right ventricle,... OMIM:212093
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Polycystic kidney dysplasia, Cardiomyopathy, Ethylmalonic aciduria, 3-Methylgl... ORPHA:26791
Maternal Phenylketonuria
Abnormal renal morphology, Coarctation of aorta, Abnormal heart morphology, Tetralogy of Fallot, ... ORPHA:2209
Combined Oxidative Phosphorylation Defect Type 27
Hypoplasia of the corpus callosum, Diffuse cerebral atrophy, Hypoplastic hippocampus, Abnormal ce... ORPHA:477774
Pallister-Hall Syndrome
Hydroureter, Ectopic kidney, Hypothalamic hamartoma, Renal cyst, Distal urethral duplication, Sho... OMIM:146510
Oeis Complex
Epispadias, Hydroureter, Duplicated collecting system, Vesicovaginal fistula, Hydrocephalus, Pelv... OMIM:258040
Developmental And Epileptic Encephalopathy 49
Dysplastic corpus callosum, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Cerebral cal... OMIM:617281
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Enlarged kidney, Truncus arteriosus, Hypertrophic cardiomyopathy, Pulmoni... OMIM:615415
Joubert Syndrome 3
Molar tooth sign on MRI, Nephronophthisis, Thin corpus callosum, Elongated superior cerebellar pe... OMIM:608629
Limb Body Wall Complex
Short umbilical cord, Abnormality of the kidney, Anencephaly, Encephalocele, Spina bifida occulta... ORPHA:2369
Unilateral Ocular Duplication
Macrocephaly, Encephalocele ORPHA:3374
Holoprosencephaly-Craniosynostosis Syndrome
Microcephaly, Holoprosencephaly, Short stature ORPHA:2163
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus, Hypoplasia of the maxilla, Malar flattening, Chiari malformation, Aplasia/Hypoplas... ORPHA:93262
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ... OMIM:231680
Lumbar Syndrome
Hypospadias, Vesicoureteral reflux, Myelomeningocele, Spina bifida, Renal agenesis, Renal duplica... ORPHA:83628
Tetrasomy 15Q26
Hypoplastic aortic arch, Hydronephrosis, Patent ductus arteriosus, Atrial septal defect, Horsesho... OMIM:614846
Isolated Polycystic Liver Disease
Vascular dilatation, Multiple renal cysts ORPHA:2924
Machado-Joseph Disease Type 1
Degeneration of the striatum, Neurogenic bladder, Cerebellar atrophy, Dilated fourth ventricle, S... ORPHA:276238
Machado-Joseph Disease Type 2
Degeneration of the striatum, Neurogenic bladder, Cerebellar atrophy, Dilated fourth ventricle, S... ORPHA:276241
Holoprosencephaly 3
Microcephaly, Hydronephrosis, Holoprosencephaly, Malar flattening, Ventriculomegaly OMIM:142945
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Situs inversus totalis, ... OMIM:602088
Smith-Lemli-Opitz Syndrome
Abnormality of the gallbladder, Renal hypoplasia/aplasia, Hypoplasia of penis, Microcephaly, Intr... ORPHA:818
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Dextrocardia, Persistent left superior vena cava, Aortic valve stenosis, ... OMIM:615067
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst, Large intestinal polyposis, Colon cancer OMIM:135150
Familial Adenomatous Polyposis 4
Gastric adenocarcinoma, Renal cyst, Ovarian cyst, Adenomatous colonic polyposis, Duodenal polyposis OMIM:617100
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Duplicated collecting system, Vesicoureteral reflux, Pulmonary artery atresia, Pulmo... OMIM:301056
Focal Dermal Hypoplasia
Ureteral duplication, Spina bifida occulta, Delayed eruption of teeth, Hydrocephalus, Myelomening... OMIM:305600
Mucolipidosis Iv
Microcephaly, Cerebral dysmyelination, Cerebellar atrophy, Dysplastic corpus callosum OMIM:252650
1Q41Q42 Microdeletion Syndrome
Short stature, Holoprosencephaly, Growth delay ORPHA:250999
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Coarctation of aorta, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal defect, Ventric... ORPHA:371428
Craniosynostosis 6
Spina bifida occulta, Dandy-Walker malformation, Cerebellar atrophy, Microcephaly, Agenesis of co... OMIM:616602
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Polycystic kidney dysplasia, Anal atresia, Intestinal malrotation, Cleft palate,... OMIM:613091
Joubert Syndrome 22
Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Renal hypoplasia, Agenesis of cerebel... OMIM:615665
Peroxisome Biogenesis Disorder 2A (Zellweger)
Polycystic kidney dysplasia, Abnormal heart morphology, Aminoaciduria OMIM:214110
Marden-Walker Syndrome
Retrognathia, Renal hypoplasia/aplasia, Microcephaly, Severe short stature, Intrauterine growth r... ORPHA:2461
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Hypoplasia of the corpus callosum, Secondary microcephaly, Molar tooth sign on MRI, Cerebellar ve... OMIM:619306
Femoral-Facial Syndrome
Abnormal renal collecting system morphology, Encephalocele, Polycystic kidney dysplasia, Spina bi... OMIM:134780
Joubert Syndrome 4
Abnormal renal medulla morphology, Molar tooth sign on MRI, Nephronophthisis, Elongated superior ... OMIM:609583
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Atrial septal defect, Ventricular septal defect, Renal cyst OMIM:263630
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Microcephaly, Lobar holoprosencephaly, Short stature, Enamel agenesis, Ventriculomegaly OMIM:614701
Au-Kline Syndrome
Retrognathia, Vesicoureteral reflux, Lipomyelomeningocele, Hydronephrosis, Chronic kidney disease... OMIM:616580
Solitary Median Maxillary Central Incisor
Microcephaly, Holoprosencephaly, Short stature OMIM:147250
Machado-Joseph Disease Type 3
Degeneration of the striatum, Neurogenic bladder, Cerebellar atrophy, Dilated fourth ventricle, S... ORPHA:276244
Peutz-Jeghers Syndrome
Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Gastrointestinal infarc... ORPHA:2869
Meckel Syndrome, Type 7
Situs inversus totalis, Multiple glomerular cysts, Pancreatic cysts, Aortic valve stenosis, Right... OMIM:267010
Epidermal Nevus Syndrome
Polycystic kidney dysplasia, Aortic aneurysm ORPHA:35125
Syndromic Diarrhea
Polycystic kidney dysplasia, Renal hypoplasia, Abnormal heart morphology, Tetralogy of Fallot, Pa... ORPHA:84064
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Patent foramen ovale, Aortic tortuosity, Pulmonic st... OMIM:614823
Pancreatic Agenesis-Holoprosencephaly Syndrome
Semilobar holoprosencephaly, Holoprosencephaly, Agenesis of corpus callosum, Absent gallbladder, ... ORPHA:556955
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni... OMIM:614817
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Abnormal heart mor... ORPHA:2237
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Patent ductus arte... OMIM:606232
Combined Oxidative Phosphorylation Deficiency 11
Hypoplasia of the corpus callosum, Stillbirth, Decreased liver function, Death in childhood, Hepa... OMIM:614922
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Atrial septal defect, Patent ductus arteriosus, Renal tubular dysf... OMIM:614886
Atrial Septal Defect 1
Atrial septal dilatation, Persistent left superior vena cava, Aortic valve stenosis, Tetralogy of... OMIM:108800
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Diabetic Embryopathy
Transposition of the great arteries, Renal hypoplasia/aplasia, Ureteral duplication, Abnormal aor... ORPHA:1926
Developmental And Epileptic Encephalopathy 60
Global brain atrophy, Hippocampal malrotation OMIM:617929
Intellectual Developmental Disorder, Autosomal Dominant 65
Agenesis of corpus callosum, Micrognathia, Dysgenesis of the hippocampus, Noncommunicating hydroc... OMI