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Gene: Tmem67 MGI:1923928

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased exploration in new environment Tmem67em1(IMPC)J HET Early adult 2.74×10-05
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

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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X-ray

XRay Images Forepaw

12 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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Electroretinography 3

Fundus file

8 Images

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Electrocardiogram (ECG)

Waveform Image

15 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Gross Morphology Embryo E9.5

Images

2 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

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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
Nephronophthisis, Polycystic kidney dysplasia, Situs inversus totalis OMIM:614844
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Nephronophthisis 16
Patent ductus arteriosus, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysp... OMIM:615382
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Renal cyst, Hypospadias, Right aortic a... OMIM:231060
Lissencephaly 5
Leukoencephalopathy, Cerebellar hemisphere hypoplasia, Hypoplasia of the brainstem, Porencephalic... OMIM:615191
Meckel Syndrome, Type 4
Meningocele, Encephalocele, Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Renal cyst, Bile... OMIM:611134
Heterotaxy, Visceral, 7, Autosomal
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Common atrium,... OMIM:616749
Laterality Defects, Autosomal Dominant
Heterotaxy, Situs inversus totalis OMIM:601086
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... OMIM:614779
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydrocephalus, Abnormal cerebral white matter... ORPHA:352682
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Reduced renal corti... OMIM:617610
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Hypoplastic pulmonary veins, Ventricular septal defect, Secundum a... OMIM:613854
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Partial agenesis of... OMIM:604213
Aorta Coarctation
Patent ductus arteriosus, Aortic valve atresia, Perimembranous ventricular septal defect, Interru... ORPHA:1457
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... OMIM:617912
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Aplasia/Hypoplasia of the cerebellum, Spinal dysraphism, Encephalocele, Aplasia/Hypo... ORPHA:1908
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Posterior fossa cyst at the fourth ventricle, Partial ab... OMIM:220200
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Cereb... OMIM:617967
Joubert Syndrome 18
Intrahepatic biliary atresia, Retrognathia, Molar tooth sign on MRI, Arrhinencephaly, Renal cyst,... OMIM:614815
Frontal Encephalocele
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Spina bifida, Hydrocephalus, Macrocepha... ORPHA:1931
Congenitally Uncorrected Transposition Of The Great Arteries
Patent ductus arteriosus, Levotransposition of the great arteries, Ventricular septal defect, Abn... ORPHA:860
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Cerebellar hypoplasia, Arrhinencephaly, Hydrocephalus, Lissencephaly, Micr... ORPHA:1528
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus... ORPHA:2570
Joubert Syndrome 14
Meningocele, Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on MRI, Hydrocephalus, ... OMIM:614424
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... OMIM:617205
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula... OMIM:217095
Lissencephaly 8
Retrocerebellar cyst, Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Agyri... OMIM:617255
Pallister-Hall-Like Syndrome
Short stature, Death in infancy, Renal dysplasia, Micrognathia, Hydrocephalus, Macrocephaly, Chia... OMIM:241800
Subependymal Nodular Heterotopia
Meningocele, Myelomeningocele, Abnormal ethmoid bone morphology, Partial agenesis of the corpus c... ORPHA:101030
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Hypoplasia of the pons, Midline brainstem cleft, Absent hippocampal commissure, Ag... OMIM:617542
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Hydrocephalus, Cerebellar malformation, Type II lissencephaly, Occipital enceph... ORPHA:324416
Meckel Syndrome, Type 10
Dilated fourth ventricle, Molar tooth sign on MRI, Cerebellar hypoplasia, Anencephaly, Malformati... OMIM:614175
Heterotaxy, Visceral, 12, Autosomal
Abdominal situs ambiguus, Double outlet right ventricle, Patent foramen ovale, Ventricular septal... OMIM:619702
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Patent ductus arteriosus, Double outlet right ventricle, Bilateral renal agenesis, Bicuspid aorti... OMIM:618845
Meckel Syndrome 13
Molar tooth sign on MRI, Cerebellar hypoplasia, Micrognathia, Polycystic kidney dysplasia, Occipi... OMIM:617562
Isolated Dandy-Walker Malformation
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Dandy-Walker malformation ORPHA:217
Ventricular Septal Defect 1
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... OMIM:614429
Polycystic Kidney Disease 7
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... OMIM:620056
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Dilated third ventricle, Renal cortical cysts, Ventriculomegaly, Lateral ventricle d... ORPHA:397715
Congenital Muscular Dystrophy With Cerebellar Involvement
Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Hypoplasia of the brainstem, Abno... ORPHA:370959
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Acalvaria
Spina bifida, Holoprosencephaly, Hydrocephalus, Aplasia/Hypoplasia of the cerebellum ORPHA:945
Craniotelencephalic Dysplasia
Cerebellar hypoplasia, Arrhinencephaly, Lissencephaly, Optic nerve hypoplasia, Absent septum pell... OMIM:218670
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
Septopreoptic Holoprosencephaly
Ethmoidal encephalocele, Perisylvian polymicrogyria, Abnormal septum pellucidum morphology, Hypop... ORPHA:280195
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Cerebellar dysplasia, Neural tube defect OMIM:615041
Joubert Syndrome 16
Encephalocele, Molar tooth sign on MRI, Renal cyst, Nephronophthisis, Dandy-Walker malformation OMIM:614465
Neurocutaneous Melanocytosis
Meningocele, Aplasia/Hypoplasia of the cerebellum, Chiari malformation, Ventriculomegaly, Death i... ORPHA:2481
Meckel Syndrome, Type 2
Meningocele, Encephalocele, Anencephaly, Renal cyst, Bile duct proliferation, Intrauterine growth... OMIM:603194
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus, Aplasia/Hypoplasia of the cerebellum ORPHA:588
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... OMIM:601331
Holoprosencephaly 5
Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosencephaly, Lobar ... OMIM:609637
Triploidy
Meningocele, Aplasia/Hypoplasia of the corpus callosum, Abnormality of the gallbladder, Micrognat... ORPHA:3376
Arnold-Chiari Malformation Type Ii
Meningocele, Myelomeningocele, Aqueductal stenosis, Ventriculomegaly, Neurogenic bladder, Agenesi... ORPHA:1136
Tricuspid Atresia
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Hypo... ORPHA:1209
Structural Heart Defects And Renal Anomalies Syndrome
Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, Atrial septal defect, Ren... OMIM:617478
Microhydranencephaly, X-Linked
Holoprosencephaly, Microcephaly, Intrauterine growth retardation OMIM:306990
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Focal polymicrogyria, Hypoplasia of the brainstem, Primary microcephaly... OMIM:615771
Autosomal Dominant Coarctation Of Aorta
Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m... ORPHA:1455
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia, Mitral valve prolapse, Cerebral berry aneurysm, Renal... OMIM:173900
Neural Tube Defects, Susceptibility To
Urinary incontinence, Myelomeningocele, Anencephaly, Hydrocephalus, Spina bifida occulta OMIM:182940
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Hypoplasia of the brainstem, Perisylvian polymicrogyria, Ventriculomega... ORPHA:171680
Chiari Malformation Type Ii
Myelomeningocele, Chiari malformation, Spina bifida, Hydrocephalus, Cervical myelopathy, Agenesis... OMIM:207950
Distal Monosomy 13Q
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Short stature, Renal hypoplasia/aplasia... ORPHA:1590
Joubert Syndrome 7
Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on MRI, Stage 5 chronic kidney disea... OMIM:611560
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Primary microcephaly, Micrognathia, Lissencephaly, Optic nerve hypo... ORPHA:300570
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele, Chiari malformation ORPHA:261102
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retrognathia, Hypoplasia of the brainstem, Encephalocele, Ventriculomegaly, Death in infancy, Cer... OMIM:614643
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Multicystic kidney dysplasia, Ventriculomegaly, Short stature, Biparietal narrowing,... ORPHA:2031
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Common atrium, Transposition of the gre... OMIM:613751
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect OMIM:601322
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Macrocephaly, Posterior fossa cyst at the fourth ventric... OMIM:220220
Partial Atrioventricular Septal Defect
Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B... ORPHA:1330
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly, Cerebral cortical atrophy, Microcephaly ORPHA:2523
Coach Syndrome 1
Hepatic fibrosis, Multiple small medullary renal cysts, Encephalocele, Cirrhosis, Molar tooth sig... OMIM:216360
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dandy-Walker malformation, Orbita... OMIM:164180
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Cerebellar dysplasia, Hypoplasia of the brainstem, Lateral ventricle di... OMIM:617751
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar dysplasia, Encephalocele, Ventriculomegaly, Hypoplasia of the brainstem, Cerebellar hy... OMIM:613150
Acromelic Frontonasal Dysplasia
Meningocele, Retrocerebellar cyst, Encephalocele, Ventriculomegaly, Choroid plexus cyst, Hypoplas... ORPHA:1827
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Joubert Syndrome 9
Hepatic fibrosis, Encephalocele, Molar tooth sign on MRI, Ventriculomegaly, Stage 5 chronic kidne... OMIM:612285
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Hypoplasia of the brainstem, Cerebellar hypoplasia, Renal dysplasia, Microretr... OMIM:236500
Joubert Syndrome 2
Hypoplasia of the brainstem, Encephalocele, Enlarged fossa interpeduncularis, Elongated superior ... OMIM:608091
Hartsfield Syndrome
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Intrauterine growth retardation, Lobar ... ORPHA:2117
Joubert Syndrome With Renal Defect
Encephalocele, Molar tooth sign on MRI, Hydrocephalus, Polymicrogyria, Biparietal narrowing, Neph... ORPHA:220497
Absent Eyebrows And Eyelashes With Mental Retardation
Encephalocele, Microcephaly OMIM:200130
Right Atrial Isomerism
Right atrial isomerism, Abdominal situs ambiguus, Ventricular septal defect, Common atrium, Atria... OMIM:208530
Nephronophthisis 20
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... OMIM:617271
Meckel Syndrome, Type 8
Encephalocele, Enlarged kidney, Polycystic kidney dysplasia, Microcephaly, Occipital encephalocel... OMIM:613885
22Q11.2 Duplication Syndrome
Ventricular septal defect, Interrupted aortic arch, Hypoplastic left heart, Urethral stenosis, Te... ORPHA:1727
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Dilatation of the cerebral artery, Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Pseudoprogeria Syndrome
Cranium bifidum occultum, Short stature, Spinal arachnoid cyst, Growth delay, Microcephaly ORPHA:2985
Thanatophoric Dysplasia Type 2
Encephalocele, Ventriculomegaly, Short stature, Abnormality of the kidney, Hydrocephalus, Macroce... ORPHA:93274
Truncus Arteriosus
Truncus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Interrupted aortic arch... ORPHA:3384
Isolated Hemihyperplasia
Nephroblastoma, Myelomeningocele ORPHA:2128
Humero-Radial Synostosis
Meningocele, Microcephaly ORPHA:3265
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Leber Congenital Amaurosis
Aplasia/Hypoplasia of the cerebellar vermis, Encephalocele ORPHA:65
Hemihyperplasia, Isolated
Nephroblastoma, Myelomeningocele OMIM:235000
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia... OMIM:618780
Vissers-Bodmer Syndrome
Holoprosencephaly, Decreased head circumference, Intrauterine growth retardation, Short stature OMIM:619033
Lathosterolosis
Meningocele, Hepatic failure, Cerebellar cortical atrophy, Chiari malformation, Micrognathia, Bip... ORPHA:46059
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Frontonasal Dysplasia 1
Anterior basal encephalocele, Cranium bifidum occultum, Hypoplastic frontal sinuses, Hypoplasia o... OMIM:136760
Aortic Valve Disease 1
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... OMIM:109730
Oculoauriculofrontonasal Syndrome
Encephalocele, Micrognathia, Macrocephaly, Pericallosal lipoma, Microcephaly ORPHA:398156
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Joubert Syndrome With Oculorenal Defect
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Molar tooth sign on MRI, Hydrocephalus,... ORPHA:2318
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar hemisphere hypoplasia, Hypoplasia of the brainstem, Short stature, Hypoplastic anterio... OMIM:618325
Indomethacin Embryofetopathy
Multicystic kidney dysplasia, Ventricular septal defect, Abnormal renal tubule morphology, Atrial... ORPHA:1909
Cerebrocostomandibular Syndrome
Meningocele, Multicystic kidney dysplasia, Myelomeningocele, Short stature, Death in infancy, Spi... ORPHA:1393
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glomerular filtration rate... OMIM:618061
Meckel Syndrome, Type 9
Occipital encephalocele, Multicystic kidney dysplasia OMIM:614209
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... OMIM:617805
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myelomeningocele, Microcephaly, Short stature, Hydronephrosis OMIM:620141
Arima Syndrome
Renal tubular atrophy, Hepatic steatosis, Brainstem dysplasia, Hepatomegaly, Nephronophthisis, He... OMIM:243910
Cocaine Embryofetopathy
Abnormality of the urinary system, Encephalocele ORPHA:1911
Diaphanospondylodysostosis
Myelomeningocele, Multiple renal cysts ORPHA:66637
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... OMIM:613095
Meckel Syndrome, Type 3
Hepatic fibrosis, Multicystic kidney dysplasia, Hydrocephalus, Malformation of the hepatic ductal... OMIM:607361
Distal Monosomy 7Q36
Short stature, Micrognathia, Hypoplasia of penis, Holoprosencephaly, Microcephaly ORPHA:1636
Schisis Association
Encephalocele, Spina bifida, Anencephaly, Renal agenesis, Microcephaly ORPHA:63862
Renal Tubular Dysgenesis
Proximal tubulopathy, Nephropathy, Multiple renal cysts, Tetralogy of Fallot, Renotubular dysgenesis ORPHA:3033
Joubert Syndrome 1
Hepatic fibrosis, Hypoplasia of the brainstem, Enlarged fossa interpeduncularis, Elongated superi... OMIM:213300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Kinked brainstem, Cerebellar dysplasia, Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar... OMIM:236670
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Short stature, Macrocephaly, Spina bifida occulta, Abnormality of the ureter, Hyposp... ORPHA:2311
Chromosome 3Q13.31 Deletion Syndrome
Agenesis of corpus callosum, Micropenis, Alobar holoprosencephaly, Ventriculomegaly OMIM:615433
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Absent septum pellucidum, Agenesis of corp... ORPHA:2182
Hydrolethalus Syndrome 2
Ventriculomegaly, Molar tooth sign on MRI, Micrognathia, Anencephaly, Hydrocephalus, Agenesis of ... OMIM:614120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hypoplasia of the brainstem, Encephalocele, Cerebellar hypoplasia, Cerebellar cyst, Hydrocephalus... OMIM:253800
Lateral Meningocele Syndrome
Meningocele, Short stature, Neurogenic bladder, Micrognathia, Hydrocephalus, Chiari type I malfor... OMIM:130720
Holoprosencephaly 11
Holoprosencephaly, Microcephaly, Agenesis of corpus callosum OMIM:614226
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... OMIM:618270
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Myelomeningocele, Intrauterine growth retardation ORPHA:1914
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Agenesis of cerebellar vermis, Encephalocele, Intrauterine growth retardation, Agenesis of corpus... ORPHA:228390
Parietal Foramina 2
Encephalocele OMIM:609597
Joubert Syndrome With Ocular Defect
Encephalocele, Molar tooth sign on MRI, Hydrocephalus, Biparietal narrowing, Cerebellar vermis hy... ORPHA:220493
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Cerebellar hemisphere hypoplasia, Multicystic kidney dysplasia, Hypoplasia of the brainstem, Vent... OMIM:615287
Posterior Meningocele
Meningocele, Chiari malformation, Increased head circumference, Neural tube defect, Occipital men... ORPHA:268810
Parietal Foramina 3
Encephalocele OMIM:609566
Ring Chromosome 21 Syndrome
Holoprosencephaly, Azoospermia, Microcephaly, Short stature ORPHA:1445
Parietal Foramina 1
Macrocephaly, Encephalocele OMIM:168500
Orofaciodigital Syndrome Vi
Molar tooth sign on MRI, Short stature, Renal dysplasia, Porencephalic cyst, Arrhinencephaly, Ren... OMIM:277170
Scalp Defects-Postaxial Polydactyly Syndrome
Encephalocele ORPHA:1003
Thoraco-Abdominal Enteric Duplication
Meningocele, Hepatomegaly ORPHA:1759
Dk Phocomelia Syndrome
Encephalocele OMIM:223340
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Ciliary Dyskinesia, Primary, 40
Patent ductus arteriosus, Congenitally corrected transposition of the great arteries, Atrioventri... OMIM:618300
Congenital Vertical Talus
Myelomeningocele ORPHA:178382
Pseudotrisomy 13 Syndrome
Encephalocele, Cerebellar hypoplasia, Hydrocephalus, Renal agenesis, Holoprosencephaly, Microceph... OMIM:264480
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Wildervanck Syndrome
Meningocele ORPHA:3456
Joubert Syndrome With Hepatic Defect
Aplasia/Hypoplasia of the cerebellum, Intrahepatic biliary atresia, Cirrhosis, Multicystic kidney... ORPHA:1454
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Left atrial isomerism, Bilateral su... OMIM:605376
Curry-Jones Syndrome
Hemimegalencephaly, Ventriculomegaly, Lipomyelomeningocele, Megalencephaly, Chiari type I malform... OMIM:601707
15Q24 Microdeletion Syndrome
Myelomeningocele, Short stature, Microphallus, Hypospadias, Microcephaly, Postnatal growth retard... ORPHA:94065
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Coach Syndrome 2
Hepatic fibrosis, Molar tooth sign on MRI, Hydrocephalus, Elevated hepatic transaminase, Portal f... OMIM:619111
Ossification Of The Posterior Longitudinal Ligament Of Spine
Myelopathy OMIM:602475
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Frontal encephalocele, Intrauterine growth retardation, Agenesis of corpus callosum ORPHA:521308
Pontocerebellar Hypoplasia, Type 15
Hypoplasia of the brainstem, Death in infancy, Simplified gyral pattern, Cerebellar hypoplasia, H... OMIM:619302
Orofaciodigital Syndrome I
Ovarian cyst, Arachnoid cyst, Hepatic fibrosis, Abnormal cortical gyration, Polycystic kidney dys... OMIM:311200
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Intellectual Developmental Disorder, Autosomal Recessive 68
Periventricular leukomalacia, Hydrocephalus, Hypoplasia of the maxilla, Microcephaly, Cerebellar ... OMIM:618302
Arachnoid Cyst
Urinary incontinence, Encephalocele, Chiari malformation, Abnormal cerebellum morphology, Urinary... ORPHA:2356
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Tetralogy of Fallot, Corpus cavernosum hypoplasia, Microphallus OMIM:615542
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micrognathia, Severe short stature, Disproportionate short-limb short stature, Microcephaly, Mala... OMIM:224410
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly, Macrocephaly OMIM:300706
Caudal Duplication
Myelomeningocele, Spina bifida, Renal hypoplasia/aplasia, Ureteral duplication, Abnormal penis mo... ORPHA:1756
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Rhizomelia, Natal tooth, Cerebellar hypoplasia, Molar tooth sign on MRI, Hypoplast... OMIM:616300
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Global brain atrophy, Hypoplasia of the pons, Microcephaly, Cerebellar atrophy, Dysplastic corpus... OMIM:618276
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia of the cerebellum, Mandibular aplasia, Hypoplasia of penis, Holoprosencephaly,... ORPHA:990
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the frontal lobes, Ventriculomegaly, Lobar holoprosencephaly, Lissencephaly, Optic ... ORPHA:468631
Holoprosencephaly-Postaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Hypoplasia of the premaxilla, Cerebella... ORPHA:2166
Lateral Meningocele Syndrome
Meningocele, Chiari malformation, Micrognathia, Craniofacial hyperostosis, Malar flattening, Umbi... ORPHA:2789
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Short stature, Delayed eruption of teeth, Micrognathia, Anencephaly, Penoscrotal t... OMIM:619148
49,Xxxxy Syndrome
Mandibular prognathia, Short stature, Renal dysplasia, Renal hypoplasia/aplasia, Delayed eruption... ORPHA:96264
Double Outlet Right Ventricle
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Coarctation of aort... ORPHA:3426
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic left... ORPHA:2248
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Double outlet right ventricle, Unbalanced atrioventricular canal defect... OMIM:619657
Czeizel-Losonci Syndrome
Ureteral agenesis, Myelomeningocele, Congenital megaureter, Spina bifida, Micrognathia, Hydroceph... ORPHA:2437
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Heterotaxy, Visceral, 5, Autosomal
Patent ductus arteriosus, Double outlet right ventricle, Atrioventricular canal defect, Ascending... OMIM:270100
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Multiple small medullary renal cysts, Hepatic cysts, Enlarged kidney, Polycysti... OMIM:263200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar dysplasia, Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Simpl... OMIM:613153
Band Heterotopia
Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Macrocephaly, Hypoplastic hippocam... OMIM:600348
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency OMIM:615987
Enlarged Parietal Foramina
Encephalomalacia, Occipital encephalocele, Myelomeningocele ORPHA:60015
Joubert Syndrome
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Hydrocephalus, Biparietal narrowing, Ce... ORPHA:475
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Aplasia/Hypoplasia of the cerebellum, Neurogenic bladder, Thin corpus callosum, Optic nerve hypop... ORPHA:572013
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Holoprosencephaly, Absent septum pellucidum, Anterior encephalocele OMIM:601357
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Decreased head circumference, Ventriculomegaly, Abnormal cerebral white matter morphology, Mild m... ORPHA:500166
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta OMIM:241550
Alagille Syndrome 2
Renal insufficiency, Renal tubular acidosis, Hematuria, Atrial septal defect, Renal cyst, Periphe... OMIM:610205
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Ventricular septal defect, Atrial septal defect, Hypoplastic left ... OMIM:220210
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Feingold Syndrome Type 1
Patent ductus arteriosus, Vesicoureteral reflux, Renal dysplasia, Interrupted aortic arch, Abnorm... ORPHA:391641
Iniencephaly
Spinal dysraphism, Encephalocele, Myelomeningocele, Rhizomelia, Mandibular aplasia, Spina bifida,... ORPHA:63259
Holoprosencephaly 14
Aqueductal stenosis, Ventriculomegaly, Hydrocephalus, Macrocephaly, Alobar holoprosencephaly, Sub... OMIM:619895
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Waardenburg Syndrome Type 1
Meningocele, Mandibular prognathia, Spina bifida ORPHA:894
Scimitar Syndrome
Truncus arteriosus, Abnormal vena cava morphology, Double outlet right ventricle, Ventricular sep... ORPHA:185
Duplication Of The Pituitary Gland
Retrognathia, Encephalocele, Short stature, Supernumerary tooth, Abnormal hypothalamus morphology... ORPHA:314621
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta OMIM:604381
Aorto-Ventricular Tunnel
Aortic root aneurysm, Ventricular hypertrophy, Abnormal aortic morphology, Aorto-ventricular tunn... ORPHA:3400
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly OMIM:611638
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Hepatomegaly, Pachygyria, Decreased liver function, Neonatal death, Colpocephaly OMIM:614870
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypoplastic left heart ORPHA:3316
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Micrognathia, Hydrocephalus, Miscarriage, Severe short stature, Microcephaly ORPHA:1865
Hyperparathyroidism 2 With Jaw Tumors
Nephroblastoma, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Renal cortical adeno... OMIM:145001
Monosomy 18P
Short stature, Micrognathia, Holoprosencephaly, Microcephaly, Carious teeth ORPHA:1598
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Abnormal aortic morphology, Ventricular septal defect, Renal hypoplasia/ap... ORPHA:1166
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Leukoencephalopathy, Global brain atrophy, Cerebral edema, Ventriculomegaly, Cerebellar edema, Ce... OMIM:617186
Meckel Syndrome, Type 6
Absent gallbladder, Hepatic fibrosis, Aplasia of the bladder, Anencephaly, Hydrocephalus, Renal c... OMIM:612284
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Abdominal situs inversus, Right atria... OMIM:306955
Recombinant Chromosome 8 Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Atrial septal... OMIM:179613
Holoprosencephaly 7
Hypoplasia of the brainstem, Hypoplasia of the premaxilla, Hydrocephalus, Semilobar holoprosencep... OMIM:610828
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Short stature, Neurogenic bladder, Hydrocephalus, Spina bifida occulta, Chiari ... OMIM:613686
Meckel Syndrome, Type 5
Renal cyst, Occipital encephalocele, Anencephaly, Bile duct proliferation OMIM:611561
Autosomal Recessive Cutis Laxa Type 2A
Dilated fourth ventricle, Primary microcephaly, Abnormal cerebellar vermis morphology, Postnatal ... ORPHA:357058
Microhydranencephaly
Hypoplasia of the brainstem, Ventriculomegaly, Short stature, Cerebellar hypoplasia, Hydranenceph... OMIM:605013
Griscelli Syndrome
Encephalocele, Short stature, Hepatitis, Jaundice, Hydrocephalus, Hepatomegaly ORPHA:381
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Chiari malformation, Ventriculomegaly, Micrognathia, Malformation of t... OMIM:249000
Endocrine-Cerebroosteodysplasia
Aplasia/Hypoplasia of the cerebellum, Focal polymicrogyria, Ventriculomegaly, Natal tooth, Microp... OMIM:612651
Masa Syndrome
Ventriculomegaly, Short stature, Hydrocephalus, Macrocephaly, Microcephaly, Agenesis of corpus ca... OMIM:303350
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Abnormal periventricular white matter morphology, Ventriculomegaly, Lat... OMIM:613443
Heart Defects, Congenital, And Other Congenital Anomalies
Patent ductus arteriosus, Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Pe... OMIM:600001
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Pulmonary artery dilatation, Pulmonary artery stenosis, Misalignme... OMIM:265380
Exostoses, Multiple, Type Ii
Short stature, Cervical myelopathy OMIM:133701
Exostoses, Multiple, Type I
Short stature, Cervical myelopathy OMIM:133700
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Rhizomelia, Agenesis of corpus callosum OMIM:166990
Pagod Syndrome
Meningocele, Multicystic kidney dysplasia, Encephalocele, Short stature, Death in infancy, Spina ... ORPHA:991
Distal Tetrasomy 15Q
Patent ductus arteriosus, Nephroblastoma, Abnormality of the kidney, Polycystic kidney dysplasia,... ORPHA:314588
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Vesicoureteral reflux, Lateral ventricle dilatation, Cerebellar hypopla... ORPHA:3078
Trisomy 18
Aplasia/Hypoplasia of the corpus callosum, Chiari malformation, Short stature, Spina bifida, Anen... ORPHA:3380
Lambotte Syndrome
Retrognathia, Semilobar holoprosencephaly, Microcephaly, Intrauterine growth retardation OMIM:245552
Cerebrooculonasal Syndrome
Encephalocele, Ventriculomegaly, Postnatal growth retardation, Hydrocephalus, Macrocephaly, Optic... OMIM:605627
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Hypospadias, Growth delay, Agenesis of cor... ORPHA:77298
Short-Rib Thoracic Dysplasia 12
Periportal fibrosis, Natal tooth, Anencephaly, Hydrocephalus, Cystic renal dysplasia, Macrocephal... OMIM:269860
Chromosome 1Q41-Q42 Deletion Syndrome
Ventriculomegaly, Short stature, Cerebellar hypoplasia, Holoprosencephaly, Microcephaly OMIM:612530
Spinocerebellar Ataxia, Autosomal Recessive 13
Retrocerebellar cyst, Dilated fourth ventricle, Short stature, Inferior cerebellar vermis hypopla... OMIM:614831
Gómez-López-Hernández Syndrome
Abnormal cerebellum morphology, Abnormal brainstem morphology, Short stature, Hydrocephalus, Cere... ORPHA:1532
Frontorhiny
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Cranium bifidum occultum, Hypoplastic f... ORPHA:391474
Knobloch Syndrome 1
Renal duplication, Bifid ureter, Ventriculomegaly, Occipital meningocele, Polymicrogyria, Spina b... OMIM:267750
Cardiac-Urogenital Syndrome
Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... OMIM:618280
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Cerebellar vermis atrophy, Short stature, Cerebellar hypoplasia OMIM:213200
Otopalatodigital Syndrome Type 2
Encephalocele, Myelomeningocele, Hypoplastic frontal sinuses, Cerebellar hypoplasia, Micrognathia... ORPHA:90652
Pai Syndrome
Aplasia/Hypoplasia of the corpus callosum, Encephalocele ORPHA:1993
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Abnormal periventricular white matter morphology, Cerebellar dysplasia,... OMIM:615960
Vacterl/Vater Association
Multicystic kidney dysplasia, Abnormality of the gallbladder, Anencephaly, Renal agenesis, Hypopl... ORPHA:887
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Micrognathia, Hydrocephalus, Severe short stature, Neonatal short-limb short statu... OMIM:224400
Frontofacionasal Dysplasia
Hypoplasia of the corpus callosum, Encephalocele, Short stature, Hypoplasia of olfactory tract ORPHA:1791
Meckel Syndrome
Pancreatic cysts, Urethral atresia, Multicystic kidney dysplasia, Encephalocele, Aplasia/Hypoplas... ORPHA:564
Joubert Syndrome 21
Hypoplasia of the brainstem, Elongated superior cerebellar peduncle, Renal cyst, Hypoplasia of th... OMIM:615636
Congenital Heart Defects, Multiple Types, 2
Subvalvular aortic stenosis, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, A... OMIM:614980
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Aortopu... ORPHA:99050
Orofaciodigital Syndrome Xiv
Molar tooth sign on MRI, Natal tooth, Cerebellar hypoplasia, Simplified gyral pattern, Micrognath... OMIM:615948
Agnathia-Otocephaly Complex
Micrognathia, Holoprosencephaly, Mandibular aplasia, Agenesis of corpus callosum OMIM:202650
Acromelic Frontonasal Dysostosis
Retrocerebellar cyst, Tubulonodular pericallosal lipoma, Encephalocele, Ventriculomegaly, Choroid... OMIM:603671
Adams-Oliver Syndrome
Cirrhosis, Encephalocele, Porencephalic cyst, Periventricular leukomalacia, Hydrocephalus, Portal... ORPHA:974
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Polycystic kidney dysplasia, Abnormal cardiac septum morphology OMIM:608776
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele OMIM:614416
Halperin-Birk Syndrome
Ventriculomegaly, Micrognathia, Agenesis of corpus callosum, Semilobar holoprosencephaly, Death i... OMIM:618651
16P13.11 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Micrognathia, Agenesis of c... OMIM:225790
Bardet-Biedl Syndrome 16
Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Renal cyst, Renal insufficiency OMIM:615993
Frontonasal Dysplasia 2
Encephalocele, Microcephaly, Hypoplasia of the corpus callosum, Agenesis of cerebellar vermis, In... OMIM:613451
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia OMIM:614173
Familial Aortic Dissection
Patent ductus arteriosus, Aortic root aneurysm, Cardiomegaly, Coronary artery atherosclerosis, De... ORPHA:229
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Abnormal ... ORPHA:370022
Pentalogy Of Cantrell
Absent gallbladder, Encephalocele, Renal dysplasia, Anencephaly, Hydrocephalus, Renal agenesis, H... ORPHA:1335
Microform Holoprosencephaly
Short stature, Renal agenesis, Hypoplasia of penis, Holoprosencephaly, Microcephaly, Intrauterine... ORPHA:280200
Joubert Syndrome 39
Polycystic kidney dysplasia, Occipital encephalocele, Molar tooth sign on MRI, Cerebellar vermis ... OMIM:619562
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallo... ORPHA:3304
Renal-Hepatic-Pancreatic Dysplasia 1
Patent ductus arteriosus, Pancreatic cysts, Renal dysplasia, Stage 5 chronic kidney disease, Enla... OMIM:208540
Slc35A2-Cdg
Lateral ventricle dilatation, Short stature, Transient nephrotic syndrome, Elevated hepatic trans... ORPHA:356961
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventriculomegaly, Death in infancy, Cerebellar hypoplasia, Cystic renal dysplasia, Ectopic kidney... OMIM:613730
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Lathosterolosis
Myelomeningocele, Chiari malformation, Bilobate gallbladder, Micrognathia, Elevated hepatic trans... OMIM:607330
Zaki Syndrome
Dilated fourth ventricle, Short stature, Micrognathia, Renal agenesis, Cerebellar vermis hypoplas... OMIM:619648
Velocardiofacial Syndrome
Ventricular septal defect, Interrupted aortic arch, Double aortic arch, Pulmonary artery atresia,... OMIM:192430
Smith-Lemli-Opitz Syndrome
Hypoplasia of the frontal lobes, Global brain atrophy, Micrognathia, Hepatic steatosis, Holoprose... OMIM:270400
Holoprosencephaly-Caudal Dysgenesis Syndrome
Holoprosencephaly, Renal insufficiency, Microcephaly ORPHA:2165
Aortic Aneurysm, Familial Thoracic 4
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... OMIM:132900
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Ventricular septal defect OMIM:616920
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Dilated fourth ventricle, Cerebellar vermis atrophy, Short stature, Diffuse cerebral atrophy, Cer... ORPHA:1170
Fetal Akinesia Syndrome, X-Linked
Agenesis of corpus callosum, Arrhinencephaly, Stillbirth OMIM:300073
Mosaic Variegated Aneuploidy Syndrome
Aplasia/Hypoplasia of the cerebellum, Nephroblastoma, Multicystic kidney dysplasia, Aplasia/Hypop... ORPHA:1052
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Short stature, Macrocephaly, Cerebral atrophy, Hypoplasia of the corpus ... ORPHA:166024
Amish Lethal Microcephaly
Ventriculomegaly, Death in infancy, Spina bifida, Micrognathia, Lissencephaly, Organic aciduria, ... ORPHA:99742
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Atrioventricular canal defect, Isomerism, Enlarged kidney, Dextrocardia, Persis... OMIM:314390
16P13.11 Microdeletion Syndrome
Ventriculomegaly, Short stature, Holoprosencephaly, Microcephaly, Agenesis of corpus callosum ORPHA:261236
Renpenning Syndrome
Anal atresia, Hypospadias, Cleft palate, Heterotaxy, High, narrow palate ORPHA:3242
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Elevated circulating alanine aminotransferase concentration, Semilobar holopr... OMIM:618500
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Leukoencephalopathy, Short stature, Growth delay, Cerebral atrophy, Hypoplasia of the corpus call... OMIM:619260
Split Cord Malformation
Meningocele, Urinary incontinence, Renal duplication, Myelomeningocele, Chiari malformation, Detr... ORPHA:573278
Holoprosencephaly
Aplasia/Hypoplasia of the cerebellum, Spinal dysraphism, Encephalocele, Branchial anomaly, Aplasi... ORPHA:2162
Joubert Syndrome 6
Dilated fourth ventricle, Hepatic fibrosis, Hypoplasia of the brainstem, Enlarged fossa interpedu... OMIM:610688
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis ORPHA:251076
Joubert Syndrome 5
Impaired renal concentrating ability, Renal cortical cysts, Molar tooth sign on MRI, Stage 5 chro... OMIM:610188
Developmental And Epileptic Encephalopathy 99
Perisylvian polymicrogyria, Ventriculomegaly, Frontotemporal cerebral atrophy, Thick corpus callo... OMIM:619606
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Ventriculomegaly, Cerebellar vermis hypoplasia, Agenesis of corpus callo... OMIM:617127
Isolated Exencephaly
Aplasia/Hypoplasia of the cerebellum, Hypoplasia of the frontal bone, Holoprosencephaly, Abnormal... ORPHA:563612
Sacral Defect With Anterior Meningocele
Meningocele, Myelomeningocele, Urinary retention, Neurogenic bladder, Hydrocephalus, Myeloschisis... OMIM:600145
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Dilated fourth ventricle, Cerebellar vermis atrophy OMIM:619054
Corpus Callosum, Partial Agenesis Of, X-Linked
Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Hydrocephalus, Partial agenesis of ... OMIM:304100
Autosomal Dominant Polycystic Kidney Disease
Aortic root aneurysm, Pancreatic cysts, Hepatic cysts, Recurrent urinary tract infections, Stage ... ORPHA:730
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic v... ORPHA:477817
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Long penis, Abnormal localization of kidne... ORPHA:1988
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Interrupted aortic arc... ORPHA:2255
Mosaic Variegated Aneuploidy Syndrome 1
Nephroblastoma, Multicystic kidney dysplasia, Ventriculomegaly, Short stature, Cerebellar hypopla... OMIM:257300
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Ascending aortic dissection, Descending aortic dissection OMIM:613780
Genitourinary And/Or Brain Malformation Syndrome
Urogenital sinus anomaly, Chiari malformation, Colpocephaly, Micrognathia, Macrocephaly, Polymicr... OMIM:618820
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Patent ductus arteriosus, Double outlet right ventricle, Patent foramen ovale, Ventricular septal... OMIM:618316
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly, Encephalocele, Abnormal cortical gyration, Macrogyria, Polymicrogyria, Epispadias, L... ORPHA:2211
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Pallister-Hall Syndrome
Hypothalamic hamartoma, Short stature, Renal dysplasia, Natal tooth, Hydroureter, Renal cyst, Ect... OMIM:146510
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Cavum septum pellucidum, Lateral ventricle dilatation, Abnormal brain... ORPHA:300573
22Q11.2 Deletion Syndrome
Meningocele, Vesicoureteral reflux, Short stature, Spina bifida, Micrognathia, Arrhinencephaly, H... ORPHA:567
Meckel Syndrome 14
Retrognathia, Hepatic fibrosis, Micrognathia, Polycystic kidney dysplasia, Microretrognathia, Hol... OMIM:619879
Mirror Movements 3
Situs inversus totalis OMIM:616059
Congenital Heart Defects, Multiple Types, 3
Abnormal heart morphology, Tetralogy of Fallot, Persistent left superior vena cava, Atrial septal... OMIM:614954
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Periventricular cysts, Abnormal cerebellum morphology, Ventriculomegaly, Abnormal brainstem morph... ORPHA:255182
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Small cerebral cortex, Short stature, Cerebellar hypoplasia, Simplified gyral ... OMIM:617914
Holoprosencephaly-Craniosynostosis Syndrome
Holoprosencephaly, Microcephaly, Short stature ORPHA:2163
Branchiootorenal Syndrome 1
Renal steatosis, Vesicoureteral reflux, High palate, Renal dysplasia, Renal malrotation, Polycyst... OMIM:113650
Trisomy 17P
Patent ductus arteriosus, Polycystic kidney dysplasia, Hypoplasia of penis, Hypoplastic left hear... ORPHA:261290
Ciliary Dyskinesia, Primary, 14
Heterotaxy, Situs inversus totalis OMIM:613807
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia, Abnormal heart morphology OMIM:263210
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Situs inversus totalis, Dextrocardia OMIM:617577
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
Phaver Syndrome
Myelomeningocele, Intrauterine growth retardation ORPHA:2876
Phenobarbital Embryopathy
Hypospadias, Tetralogy of Fallot, Abnormal mitral valve morphology ORPHA:1919
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Retrognathia, Ventriculomegaly, Abnormal brainstem morphology, Micrognathia, Hydrocephalus, Abnor... ORPHA:163961
Hepatorenocardiac Degenerative Fibrosis
Renal interstitial fibrosis, Enlarged kidney, Renal cyst, Reduced renal corticomedullary differen... OMIM:619902
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Abnormal dentate nucleus morphology, Reduced amygdala volume, Lateral ventricle dilatation, Thin ... OMIM:619517
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Ventriculomegaly, Hypoplastic hippocampus, Partial agenesis of the corpus callosum, Cerebral atro... ORPHA:85179
Msh3-Related Attenuated Familial Adenomatous Polyposis
Stomach cancer, Colorectal polyposis, Multiple gastric polyps, Neoplasm of the rectum, Renal cyst... ORPHA:480536
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplastic anterior commissure, Agenesis of corpus callosum, Dysgenesis of the basal ganglia, Hy... OMIM:600638
Trisomy 8Q
Micrognathia, Myelomeningocele, Displacement of the urethral meatus, Hypoplasia of penis ORPHA:1752
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta OMIM:217085
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... OMIM:108900
Congenital Disorder Of Glycosylation, Type Ia
Dilated fourth ventricle, Proximal tubulopathy, Hepatic fibrosis, Cerebellar hypoplasia, Nephroti... OMIM:212065
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Agenesis of corpus callosum, Optic nerve hypoplasia, Spina bifida o... OMIM:618736
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal arteriolar tortuosity, Hematuria, Renal cyst, Lacunar stroke, Dilatation of the cerebral ... OMIM:611773
1Q41Q42 Microdeletion Syndrome
Holoprosencephaly, Growth delay, Short stature ORPHA:250999
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Dilated fourth ventricle, Hypoplasia of the brainstem, Short stature, Cerebellar hypoplasia, Simp... OMIM:300749
Smith-Lemli-Opitz Syndrome
Ventriculomegaly, Micrognathia, Biparietal narrowing, Holoprosencephaly, Abnormal dental enamel m... ORPHA:818
Fetal Encasement Syndrome
Tetralogy of Fallot, Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydroguanosine level OMIM:613630
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Stage ... OMIM:603860
Joubert Syndrome 8
Occipital encephalocele, Molar tooth sign on MRI, Prolonged neonatal jaundice, Hepatomegaly OMIM:612291
Holoprosencephaly 9
Dental malocclusion, Agenesis of incisor, Abnormal cortical gyration, Short stature, Hypoplasia o... OMIM:610829
Solitary Median Maxillary Central Incisor
Holoprosencephaly, Microcephaly, Short stature OMIM:147250
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Short stature, Hydrocephalus, Hypospadias, Horseshoe kidney, Chiari type I malf... OMIM:218350
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Short stature, Hydrocephalus, Macrocephaly, Hypoplasia of the maxilla, Malar fl... OMIM:109120
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Carnitine Palmitoyltransferase Ii Deficiency
Tubulointerstitial nephritis, Hepatic failure, Stage 5 chronic kidney disease, Polycystic kidney ... ORPHA:157
Craniofacioskeletal Syndrome
Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch, Atrial septal defec... OMIM:300712
Wars2-Related Combined Oxidative Phosphorylation Defect
Leukoencephalopathy, Dilated fourth ventricle, Abnormal periventricular white matter morphology, ... ORPHA:572798
Ataxia-Telangiectasia-Like Disorder
Cerebellar atrophy, Dilated fourth ventricle, Short stature, Cerebellar vermis hypoplasia ORPHA:251347
Pontocerebellar Hypoplasia Type 2
Hypoplasia of the ventral pons, Hypoplasia of the brainstem, Ventriculomegaly, Abnormal cortical ... ORPHA:2524
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Semilobar holoprosencephaly, Holoprosencephaly, Hypoplasia of the zygomatic b... ORPHA:556955
Igg4-Related Aortitis
Ascending tubular aorta aneurysm, Abnormal common carotid artery morphology, Dilated left subclav... ORPHA:449400
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida ORPHA:63260
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Tubulointerstitial nephritis, Polycystic kidney dysplasia, Cystic renal dysplasia, Dicarboxylic a... ORPHA:228308
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Ventriculomegaly, Short stature, Lobar holoprosencephaly, Microcephaly, Enamel agenesis OMIM:614701
Cloacal Exstrophy
Vesicoureteral reflux, Myelomeningocele, Spina bifida, Hydroureter, Renal hypoplasia/aplasia, Hyp... ORPHA:93929
Atelosteogenesis, Type I
Encephalocele, Rhizomelia, Micrognathia, Disproportionate short-limb short stature, Stillbirth, M... OMIM:108720
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia... OMIM:608836
Holoprosencephaly 3
Ventriculomegaly, Holoprosencephaly, Microcephaly, Malar flattening, Hydronephrosis OMIM:142945
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Leukoencephalopathy, Cerebellar dysplasia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Ce... OMIM:615181
1Q21.1 Microdeletion Syndrome
Patent ductus arteriosus, Vesicoureteral reflux, Abnormal cardiac septum morphology, Interrupted ... ORPHA:250989
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Dysplastic corpus callosum OMIM:613162
Primary Ciliary Dyskinesia
Double outlet right ventricle, Atrial situs ambiguous, Anomalous pulmonary venous return, Situs i... ORPHA:244
Meckel Syndrome 12
Cerebellar hypoplasia, Bilateral renal agenesis, Cerebral hypoplasia, Arrhinencephaly, Micrognath... OMIM:616258
Meacham Syndrome
Patent ductus arteriosus, Cardiac total anomalous pulmonary venous connection, Ventricular septal... OMIM:608978
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Vesicoureteral reflux, Ventriculomegaly, Short stature, Micrognathia, Macrocephaly, Hypoplastic a... OMIM:616975
Prune Belly Syndrome
Patent ductus arteriosus, Vesicoureteral reflux, Urogenital sinus anomaly, Multicystic kidney dys... ORPHA:2970
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Nasofrontal encephalocele, Hydrocephalus, Ventriculomegaly OMIM:614195
Phocomelia, Schinzel Type
Meningocele, Micrognathia, Hypoplasia of penis, Disproportionate short stature, Intrauterine grow... ORPHA:2879
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Optic nerve hypoplasia OMIM:607597
Aortic Valve Disease 3
Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascending aortic dissection, A... OMIM:618496
Dural Sinus Malformation
Hypoplasia of the frontal lobes, Cerebral edema, Abnormal cerebellum morphology, Hydrocephalus, M... ORPHA:97339
Trisomy 1Q
Multicystic kidney dysplasia, Congenital megaureter, Ventriculomegaly, Cerebellar hypoplasia, Hyd... ORPHA:261344
Meacham Syndrome
Patent ductus arteriosus, Conotruncal defect, Crossed fused renal ectopia, Ventricular septal def... ORPHA:3097
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Vascular dilatation, Renal cyst, Nephropathy, Focal segmental glomerulosclerosis, Chronic kidney ... OMIM:617056
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Polycystic kidney dysplasia, Renal cyst, Hypospadias, Short uvula, Renal hypoplasia,... OMIM:614091
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Renal agenesis, Dilated cardiomyopathy, Pulmonary artery hypoplasi... ORPHA:2326
Axial Mesodermal Dysplasia Spectrum
Cerebral cortical atrophy, Abnormality of the liver, Short stature, Renal hypoplasia/aplasia, Mic... ORPHA:1834
Maternal Phenylketonuria
Double outlet right ventricle, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... ORPHA:2209
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch, Intracranial hemorr... ORPHA:163979
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Patent ductus arteriosus, Patent foramen ovale, 3-Methylglutaconic aciduria, Interrupted aortic a... ORPHA:17
Familial Adenomatous Polyposis 4
Duodenal polyposis, Gastric adenocarcinoma, Renal cyst, Ovarian cyst, Adenomatous colonic polyposis OMIM:617100
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Hypertrophic cardiomyopathy, Situs i... OMIM:615415
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Joubert Syndrome 3
Molar tooth sign on MRI, Lateral ventricle dilatation, Elongated superior cerebellar peduncle, St... OMIM:608629
Triopia
Macrocephaly, Encephalocele ORPHA:3374
Oeis Complex
Myelomeningocele, Chiari malformation, Vesicovaginal fistula, Hydroureter, Hydrocephalus, Renal a... OMIM:258040
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Aplasia/Hypoplasia of the cerebellum, Chiari malformation, Hydrocephalus, Hypoplasia of the maxil... ORPHA:93262
Combined Oxidative Phosphorylation Defect Type 27
Diffuse cerebral atrophy, Abnormal cerebral white matter morphology, Diffuse cerebellar atrophy, ... ORPHA:477774
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Growth delay, Primary microcephaly OMIM:618010
Limb Body Wall Complex
Encephalocele, Myelomeningocele, Abnormality of the liver, Spina bifida, Short umbilical cord, An... ORPHA:2369
Short Rib-Polydactyly Syndrome
Urogenital sinus anomaly, Hepatic cysts, Abnormality of the kidney, Polycystic kidney dysplasia, ... ORPHA:1505
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Polycystic kidney dysplasia, Lacticaciduria, Glutaric aciduria, Abnormal heart mo... ORPHA:26791
Cardiac Valvular Dysplasia 1
Hypoplasia of right ventricle, Patent foramen ovale, Left aortic arch with cervical origin of the... OMIM:212093
Joubert Syndrome 10
Macrocephaly, Molar tooth sign on MRI, Growth delay, Cerebellar vermis hypoplasia OMIM:300804
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebellar hypoplasia, Perive... OMIM:616900
Lumbar Syndrome
Vesicoureteral reflux, Renal duplication, Myelomeningocele, Spina bifida, Renal agenesis, Hypospa... ORPHA:83628
Multiple Acyl-Coa Dehydrogenase Deficiency
Proximal tubulopathy, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Generalized ... OMIM:231680
Jacobsen Syndrome
Micrognathia, Hydrocephalus, Macrocephaly, Holoprosencephaly, Hypospadias, Microcephaly, Intraute... OMIM:147791
Machado-Joseph Disease Type 1
Dilated fourth ventricle, Neurogenic bladder, Substantia nigra gliosis, Cerebellar atrophy, Degen... ORPHA:276238
Machado-Joseph Disease Type 2
Dilated fourth ventricle, Neurogenic bladder, Substantia nigra gliosis, Cerebellar atrophy, Degen... ORPHA:276241
Isolated Polycystic Liver Disease
Vascular dilatation, Multiple renal cysts ORPHA:2924
Nephronophthisis 2
Stage 5 chronic kidney disease, Enlarged kidney, Absence of renal corticomedullary differentiatio... OMIM:602088
Craniosynostosis 6
Lateral ventricle dilatation, Agenesis of corpus callosum, Spina bifida occulta, Microcephaly, Ce... OMIM:616602
Ring Chromosome 7 Syndrome
Cerebral cortical atrophy, Mandibular prognathia, Abnormal cerebellum morphology, Ventriculomegal... ORPHA:1449
Birt-Hogg-Dube Syndrome
Large intestinal polyposis, Renal cell carcinoma, Renal neoplasm, Renal cyst, Colon cancer OMIM:135150
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Aortic Valve Disease 2
Aortic tortuosity, Patent foramen ovale, Bicuspid aortic valve, Calcification of the aorta, Aorti... OMIM:614823
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Mitral valve pro... ORPHA:371428
Mucolipidosis Iv
Cerebellar atrophy, Dysplastic corpus callosum, Microcephaly, Cerebral dysmyelination OMIM:252650
Chromosome 13Q14 Deletion Syndrome
Micrognathia, Agenesis of corpus callosum, Holoprosencephaly, Growth delay, Hypoplasia of the cor... OMIM:613884
Joubert Syndrome 22
Molar tooth sign on MRI, Hypoplasia of the corpus callosum, Renal hypoplasia, Temporal cortical a... OMIM:615665
Joubert Syndrome 4
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Abnormal renal medulla morpholog... OMIM:609583
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Polycystic kidney dysplasia, Abnormal heart morphology OMIM:214110
Focal Dermal Hypoplasia
Enamel hypoplasia, Dental malocclusion, Myelomeningocele, Chiari malformation, Bifid ureter, Shor... OMIM:305600
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Hypoplasia of the brainstem, Molar tooth sign on MRI, Cerebellar hypopl... OMIM:619306
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Vesicoureteral reflux, Ventricular septal defect, Pulmonic stenosi... OMIM:301056
Marden-Walker Syndrome
Renal dysplasia, Micrognathia, Abnormality of the urinary system, Multicystic kidney dysplasia, H... ORPHA:2461
Atrial Septal Defect 1
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... OMIM:108800
Machado-Joseph Disease Type 3
Dilated fourth ventricle, Neurogenic bladder, Substantia nigra gliosis, Cerebellar atrophy, Degen... ORPHA:276244
Charge Syndrome
Aplasia/Hypoplasia of the cerebellum, Vesicoureteral reflux, Aqueductal stenosis, Short stature, ... ORPHA:138
Congenital Total Pulmonary Venous Return Anomaly
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Cardiac total anomalous ... ORPHA:99125
Polysyndactyly With Cardiac Malformation
Renal cyst, Hepatic cysts, Ventricular septal defect, Atrial septal defect OMIM:263630
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Bifid tongue, Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia, Anal atresia, Intest... OMIM:613091
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Renal malrotation, Hypop... OMIM:601186
Syndromic Diarrhea
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Polycystic kidney dys... ORPHA:84064
Hartsfield Syndrome
Hypoplasia of the frontal bone, Semilobar holoprosencephaly, Alobar holoprosencephaly, Lobar holo... OMIM:615465
Bresek Syndrome
Vesicoureteral reflux, Hypoplasia of the bladder, Renal dysplasia, Hydrocephalus, Optic nerve hyp... ORPHA:85284
Phelan-Mcdermid Syndrome
Patent ductus arteriosus, Vesicoureteral reflux, Ventricular septal defect, Abnormality of the ki... OMIM:606232
Diabetic Embryopathy
Abnormal aortic morphology, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of t... ORPHA:1926
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... OMIM:614817
Au-Kline Syndrome
Retrognathia, Vesicoureteral reflux, Hydronephrosis, Dental malocclusion, Ventriculomegaly, Dilat... OMIM:616580
Peroxisome Biogenesis Disorder 12A (Zellweger)
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Renal tubular dysf... OMIM:614886
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Unilateral renal agenesis, A... ORPHA:2237
Peutz-Jeghers Syndrome
Stomach cancer, Enlarged polycystic ovaries, Abnormality of the gastrointestinal tract, Renal cel... ORPHA:2869
Meckel Syndrome, Type 7
Patent ductus arteriosus, Pancreatic cysts, Multicystic kidney dysplasia, Stage 5 chronic kidney ... OMIM:267010
Intellectual Developmental Disorder, Autosomal Dominant 65
Micrognathia, Dysgenesis of the hippocampus, Noncommunicating hydrocephalus, Agenesis of corpus c... OMIM:619320
Waardenburg Syndrome
Myelomeningocele ORPHA:3440
Mosaic Trisomy 9
Abnormal liver lobulation, Ventriculomegaly, Renal dysplasia, Spina bifida, Micrognathia, Biparie... ORPHA:99776
Cerebellar-Facial-Dental Syndrome
Dental malocclusion, Infancy onset short-trunk short stature, Hypoplasia of the brainstem, Ventri... ORPHA:444072
Developmental And Epileptic Encephalopathy 60
Global brain atrophy, Hippocampal malrotation OMIM:617929
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hypoplasia of the brainstem, Cerebellar hypoplasia, Agyria, Hydrocephalus, Lissencephaly, Type II... OMIM:615249
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation, Short stature, Hypoplastic hippocampus, Microcephaly, Growth delay,... ORPHA:208447
Aortic Arch Interruption
Patent ductus arteriosus, Double outlet right ventricle, Abnormal ascending aorta morphology, Aor... ORPHA:2299
Bardet-Biedl Syndrome 4