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
increased grip strength Tmem67em1(IMPC)J HET Early adult 6.76×10-05
preweaning lethality, complete penetrance Tmem67em1(IMPC)J HOM   Early adult 0.00

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

lacZ Expression

Expression data not available

Associated Images

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

Electroretinography 3

Fundus file

8 Images

X-ray

XRay Images Forepaw

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Electrocardiogram (ECG)

Waveform Image

15 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

Gross Morphology Embryo E9.5

Images

2 Images

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

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

8 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
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Pulmonic stenosis, Enlarged kidney, Situs inversus total... OMIM:615382
Genitopalatocardiac Syndrome
Double outlet right ventricle, Hypospadias, Ventricular septal defect, Renal cyst, Transposition ... OMIM:231060
Lissencephaly 5
Leukoencephalopathy, Hydrocephalus, Macrocephaly, Hypoplasia of the corpus callosum, Type II liss... OMIM:615191
Meckel Syndrome, Type 4
Hydrocephalus, Microcephaly, Anencephaly, Agenesis of cerebellar vermis, Hypoplasia of the corpus... OMIM:611134
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Heterota... OMIM:616749
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Dysgyria, Cerebellar hypoplasia, Type II lissencephaly, Abnormal cerebral white ma... ORPHA:352682
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Cerebellar hypoplasia, Hypoplasia of the corpus callos... OMIM:604213
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Micropenis, Anencephaly, Cerebellar hypoplasia, Cortical dysplasia, Renal dysplasi... OMIM:615287
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Holoprosencephaly, Short stature, Micrognathia, Microcephaly, Anencephaly, Aplasia... ORPHA:1908
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle, Partial absence of cerebellar vermis, Agenesis of cerebe... OMIM:220200
Frontal Encephalocele
Hydrocephalus, Macrocephaly, Cerebral calcification, Encephalocele, Spina bifida, Aplasia/Hypopla... ORPHA:1931
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Cerebral cortical atrophy, Renal hypoplasia/aplasia, Holoprosencephaly, Micrognathia, Microcephal... ORPHA:2570
Craniotelencephalic Dysplasia
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Arrhinencephaly, Agenesis of corpus callosum,... ORPHA:1528
Lissencephaly 8
Hypoplasia of the brainstem, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callos... OMIM:617255
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Macrocephaly, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker m... OMIM:617967
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Macrocephaly at birth, Type II lissencephaly, Ventriculomegaly, Cerebellar malform... ORPHA:324416
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Hypoplasia of the pons, Agenesis of corpus callosum, Abnormality of the anterior c... OMIM:617542
Meckel Syndrome, Type 10
Micropenis, Hypospadias, Dilated fourth ventricle, Anencephaly, Malformation of the hepatic ducta... OMIM:614175
Subependymal Nodular Heterotopia
Myelomeningocele, Abnormal ethmoid bone morphology, Polymicrogyria, Partial agenesis of the corpu... ORPHA:101030
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Single coronary artery origin, Ventricular septal defect, Double outlet right ven... OMIM:619702
Isolated Dandy-Walker Malformation
Encephalocele, Dandy-Walker malformation, Aplasia/Hypoplasia of the corpus callosum ORPHA:217
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Unilateral renal ag... OMIM:618845
Meckel Syndrome 13
Micrognathia, Cerebellar hypoplasia, Polycystic kidney dysplasia, Occipital encephalocele, Molar ... OMIM:617562
Acalvaria
Hydrocephalus, Spina bifida, Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly ORPHA:945
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dysgenesis of the cerebellar vermis, Rhizomelic arm shortening, Abnormal cerebellum morphology, A... ORPHA:397715
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Abnormal cerebellum morphology, Diffuse white matter abnormalities, Microcephaly, ... ORPHA:370959
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Abnormality of the urinary system, Occipital encephalocele, Periportal fibrosis, Agenesis of cere... OMIM:213010
Septopreoptic Holoprosencephaly
Perisylvian polymicrogyria, Microcephaly, Rhombencephalosynapsis, Hypoplasia of the pons, Abnorma... ORPHA:280195
Craniotelencephalic Dysplasia
Absent septum pellucidum, Optic nerve hypoplasia, Cerebellar hypoplasia, Arrhinencephaly, Agenesi... OMIM:218670
Joubert Syndrome 16
Nephronophthisis, Renal cyst, Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Meckel Syndrome, Type 2
Anencephaly, Renal cyst, Meningocele, Bile duct proliferation, Encephalocele, Intrauterine growth... OMIM:603194
Neurocutaneous Melanocytosis
Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly, Chiari malforma... ORPHA:2481
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Chiari malformation, Syringomyelia, Spina bifida, Agenesis of co... OMIM:207950
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Brain stem compression, Hydrocephalus, Aqueductal stenosis, Cortical dysplasia,... ORPHA:1136
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly ORPHA:588
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta, Urinary incontinence OMIM:182940
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Pallister-Hall-Like Syndrome
Hydrocephalus, Macrocephaly, Hypothalamic hamartoma, Micropenis, Micrognathia, Renal dysplasia, D... OMIM:241800
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... OMIM:617478
Triploidy
Hydrocephalus, Macrocephaly, Hepatomegaly, Hypoplasia of penis, Holoprosencephaly, Hypospadias, M... ORPHA:3376
Microhydranencephaly, X-Linked
Microcephaly, Intrauterine growth retardation, Holoprosencephaly OMIM:306990
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Cerebral berry aneurysm, Hepatic cysts, Mitral valve prolapse, Polycystic kidney dysplasia, Renal... OMIM:173900
Holoprosencephaly 5
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Microcephaly, Semilo... OMIM:609637
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... OMIM:606217
Joubert Syndrome 7
Hypoplasia of the brainstem, Nephronophthisis, Renal cyst, Encephalocele, Molar tooth sign on MRI... OMIM:611560
Distal Monosomy 13Q
Renal hypoplasia/aplasia, Holoprosencephaly, Short stature, Microcephaly, Anencephaly, Encephaloc... ORPHA:1590
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Macrocephaly, Large basal ganglia, Abnormal cerebellar vermis morphology, Hypoplasia of the corpu... ORPHA:300570
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Macrocephaly, Microretrognathia, Dilated fourth ventricle, Partial absence of cere... OMIM:220220
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Chiari malformation, Frontal encephalocele ORPHA:261102
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Microphallus, Tetralogy of Fallot, Micropenis OMIM:615542
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Agenesis of corpus callosum, Dandy-Walker malformation, Hypoplasia of the ... OMIM:164180
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Joubert Syndrome 14
Hydrocephalus, Malar flattening, Renal cyst, Growth delay, Encephalocele, Dandy-Walker malformation OMIM:614424
Coach Syndrome 1
Hepatomegaly, Intrahepatic bile duct dilatation, Aplasia/Hypoplasia of the cerebellar vermis, Nep... OMIM:216360
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short stature, Multicystic kidney dysplasia, Congenital hepatic fibrosis, Renal cyst, Ventriculom... ORPHA:2031
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Urethral stenosis, Transp... ORPHA:1727
Acromelic Frontonasal Dysostosis
Choroid plexus cyst, Hypoplasia of the corpus callosum, Ventriculomegaly, Encephalocele, Agenesis... OMIM:603671
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Microcephaly, Cerebral cortical atrophy, Holoprosencephaly ORPHA:2523
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Microretrognathia, Neonatal death, Cerebellar hypoplasia, Ureteral agenesis, Renal dysplasia, Ren... OMIM:236500
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta, Hydronephrosis, Ureteral atresia OMIM:183802
Absent Eyebrows And Eyelashes With Mental Retardation
Microcephaly, Encephalocele OMIM:200130
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Encephalocele, Pachygyria, Microcephaly, Partial absence of cerebellar vermis, Cer... OMIM:613150
Acromelic Frontonasal Dysplasia
Hypoplasia of the olfactory bulb, Choroid plexus cyst, Ventriculomegaly, Meningocele, Encephaloce... ORPHA:1827
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Joubert Syndrome With Renal Defect
Hydrocephalus, Biparietal narrowing, Nephropathy, Polymicrogyria, Cerebellar vermis hypoplasia, R... ORPHA:220497
Hartsfield Syndrome
Intrauterine growth retardation, Encephalocele, Lobar holoprosencephaly, Aplasia/Hypoplasia of th... ORPHA:2117
Joubert Syndrome 9
Hepatic fibrosis, Ventriculomegaly, Encephalocele, Molar tooth sign on MRI, Stage 5 chronic kidne... OMIM:612285
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Joubert Syndrome 2
Elongated superior cerebellar peduncle, Hypoplasia of the brainstem, Hydrocephalus, Macrocephaly,... OMIM:608091
Intellectual Developmental Disorder, Autosomal Dominant 48
Macrocephaly, Hypospadias, Microcephaly, Dilated fourth ventricle, Dysgenesis of the cerebellar v... OMIM:617751
Pseudoprogeria Syndrome
Short stature, Microcephaly, Cranium bifidum occultum, Spinal arachnoid cyst, Growth delay ORPHA:2985
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Abdominal situs inversus, Situs inv... OMIM:605376
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
Arima Syndrome
Occipital meningocele, Hepatomegaly, Renal tubular atrophy, Aplasia/Hypoplasia of the cerebellar ... OMIM:243910
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Dilatation of the cerebral artery, Hepatic cysts OMIM:600666
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Thanatophoric Dysplasia Type 2
Hydrocephalus, Macrocephaly, Short stature, Holoprosencephaly, Abnormality of the kidney, Ventric... ORPHA:93274
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Macrocephaly, Pachygyria, Retrognathia, Optic nerve hypoplasia, Cerebellar hypopla... OMIM:614643
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Humero-Radial Synostosis
Microcephaly, Meningocele ORPHA:3265
Frontonasal Dysplasia 1
Hypoplastic frontal sinuses, Cranium bifidum occultum, Hypoplasia of the maxilla, Anterior basal ... OMIM:136760
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Leber Congenital Amaurosis
Encephalocele, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:65
Vissers-Bodmer Syndrome
Short stature, Intrauterine growth retardation, Decreased head circumference, Holoprosencephaly OMIM:619033
Oculoauriculofrontonasal Syndrome
Macrocephaly, Micrognathia, Microcephaly, Encephalocele, Pericallosal lipoma ORPHA:398156
Cerebrocostomandibular Syndrome
Myelomeningocele, Short stature, Cerebral calcification, Micrognathia, Microcephaly, Multicystic ... ORPHA:1393
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Biparietal narrowing, Nephropathy, Cerebellar vermis hypoplasia, Renal insufficien... ORPHA:2318
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Lathosterolosis
Hepatomegaly, Hypoplasia of penis, Biparietal narrowing, Hepatic failure, Cerebral calcification,... ORPHA:46059
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
Cocaine Embryofetopathy
Encephalocele, Abnormality of the urinary system ORPHA:1911
Indomethacin Embryofetopathy
Atrial septal defect, Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy... ORPHA:1909
Isolated Hemihyperplasia
Myelomeningocele, Nephroblastoma ORPHA:2128
Joubert Syndrome 1
Elongated superior cerebellar peduncle, Macrocephaly, Microcephaly, Nephropathy, Dysgenesis of th... OMIM:213300
Schisis Association
Renal agenesis, Microcephaly, Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Meckel Syndrome, Type 8
Microcephaly, Encephalocele, Hyperechogenic kidneys OMIM:613885
Meckel Syndrome, Type 3
Hydrocephalus, Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal pla... OMIM:607361
Distal Monosomy 7Q36
Hypoplasia of penis, Short stature, Holoprosencephaly, Micrognathia, Microcephaly ORPHA:1636
Meckel Syndrome, Type 9
Multicystic kidney dysplasia, Occipital encephalocele OMIM:614209
Hemihyperplasia, Isolated
Myelomeningocele, Nephroblastoma OMIM:235000
Holoprosencephaly, Recurrent Infections, And Monocytosis
Microcephaly, Agenesis of corpus callosum, Micropenis, Holoprosencephaly OMIM:610680
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hydrocephalus, Micrognathia, Microcephaly, Optic nerve hypoplasia, Cerebellar hypoplasia, Hypopla... OMIM:236670
Renal Tubular Dysgenesis
Nephropathy, Renotubular dysgenesis, Multiple renal cysts, Tetralogy of Fallot, Proximal tubulopathy ORPHA:3033
Parietal Foramina 2
Encephalocele OMIM:609597
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Multiple renal cysts, Hepatic cysts, Situs inversus totalis, ... OMIM:613095
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Agenesis of corpus callosum, Absent septum... ORPHA:2182
Amish Lethal Microcephaly
Hepatomegaly, Micrognathia, Microcephaly, Organic aciduria, Cerebellar vermis hypoplasia, Lissenc... ORPHA:99742
Caudal Duplication
Myelomeningocele, Renal hypoplasia/aplasia, Abnormal penis morphology, Ureteral duplication, Spin... ORPHA:1756
Autosomal Recessive Spondylocostal Dysostosis
Macrocephaly, Short stature, Hypospadias, Microcephaly, Abnormality of the ureter, Spina bifida o... ORPHA:2311
Diaphanospondylodysostosis
Myelomeningocele, Multiple renal cysts ORPHA:66637
Hydrolethalus Syndrome 2
Hydrocephalus, Micrognathia, Anencephaly, Ventriculomegaly, Molar tooth sign on MRI, Agenesis of ... OMIM:614120
Chromosome 3Q13.31 Deletion Syndrome
Agenesis of corpus callosum, Alobar holoprosencephaly, Ventriculomegaly, Micropenis OMIM:615433
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Intrauterine growth retardation, Agenesis of corpus callosum, Agenesis of cerebell... ORPHA:228390
Ring Chromosome 21 Syndrome
Azoospermia, Microcephaly, Short stature, Holoprosencephaly ORPHA:1445
Joubert Syndrome With Ocular Defect
Hydrocephalus, Biparietal narrowing, Polymicrogyria, Cerebellar vermis hypoplasia, Encephalocele,... ORPHA:220493
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Posterior Meningocele
Occipital meningocele, Hydrocephalus, Tethered cord, Enuresis, Neural tube defect, Increased head... ORPHA:268810
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus, Intrauterine growth retardation ORPHA:1914
Holoprosencephaly 11
Microcephaly, Agenesis of corpus callosum, Holoprosencephaly OMIM:614226
Parietal Foramina 3
Encephalocele OMIM:609566
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Diastomatomyelia, Meningocele ORPHA:1759
Parietal Foramina 1
Encephalocele, Macrocephaly OMIM:168500
Congenital Vertical Talus
Myelomeningocele ORPHA:178382
Scalp Defects-Postaxial Polydactyly Syndrome
Encephalocele ORPHA:1003
Orofaciodigital Syndrome I
Hydrocephalus, Hypothalamic hamartoma, Ovarian cyst, Hepatic cysts, Carious teeth, Proteinuria, P... OMIM:311200
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Renal cyst, Renal insufficiency OMIM:615987
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs in... OMIM:618300
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Intrauterine growth retardation, Agenesis of corpus callosum, Frontal encephalocele ORPHA:521308
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Dk Phocomelia Syndrome
Encephalocele OMIM:223340
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Holoprosencephaly, Encephalocele, Pachygyria, Cerebellar hypoplasia, Polymicrogyri... OMIM:253800
Lateral Meningocele Syndrome
Malar flattening, Short stature, Micrognathia, Dural ectasia, Umbilical hernia, Meningocele, Syri... OMIM:130720
Pseudotrisomy 13 Syndrome
Hydrocephalus, Holoprosencephaly, Micropenis, Renal agenesis, Microcephaly, Cerebellar hypoplasia... OMIM:264480
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Arachnoid Cyst
Urinary bladder sphincter dysfunction, Hydrocephalus, Abnormal cerebellum morphology, Holoprosenc... ORPHA:2356
Czeizel-Losonci Syndrome
Myelomeningocele, Hydrocephalus, Congenital megaureter, Micrognathia, Abnormality of the urinary ... ORPHA:2437
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Neoplasm of the liver, Hepatomegaly, Macrocephaly, Biparietal narrowing, Intrahepa... ORPHA:1454
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Micrognathia, Microcephaly, Cerebellar hypoplasia, Ventriculomegaly, Hydranencepha... OMIM:225790
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Microcephaly, Hypoplasia of the maxilla, Cerebellar atrophy, Periventricular leuko... OMIM:618302
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... OMIM:618164
Iniencephaly
Myelomeningocele, Hydrocephalus, Holoprosencephaly, Renal agenesis, Anencephaly, Spinal dysraphis... ORPHA:63259
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Absence of renal corticomedullary differentiation, Hepatic cysts, Tubulointerstitial fibrosis, En... OMIM:263200
Coach Syndrome 2
Hydrocephalus, Hyperechogenic kidneys, Congenital hepatic fibrosis, Elevated hepatic transaminase... OMIM:619111
Wildervanck Syndrome
Meningocele ORPHA:3456
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Hypoplasia of penis, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Mandibular aplasia,... ORPHA:990
15Q24 Microdeletion Syndrome
Myelomeningocele, Short stature, Hypospadias, Microcephaly, Postnatal growth retardation, Microph... ORPHA:94065
Mental retardation, x-linked, syndromic, Turner type
Macrocephaly, Holoprosencephaly OMIM:300706
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the corpus callosum, Polymicrogyria, Simplified gyral pattern, Pachygyria, Lobar ho... ORPHA:468631
Enlarged Parietal Foramina
Myelomeningocele, Occipital encephalocele, Encephalomalacia ORPHA:60015
Lateral Meningocele Syndrome
Malar flattening, Micrognathia, Dural ectasia, Chiari malformation, Umbilical hernia, Meningocele... ORPHA:2789
Chromosome 13Q33-Q34 Deletion Syndrome
Short stature, Hypospadias, Microcephaly, Micrognathia, Anencephaly, Delayed eruption of teeth, A... OMIM:619148
49,Xxxxy Syndrome
Abnormal dental enamel morphology, Taurodontia, Renal hypoplasia/aplasia, Hypoplasia of penis, Ho... ORPHA:96264
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly, Hypoplasia of the pons, Cerebellar atrophy, Global brai... OMIM:618276
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Atrioventricular canal defect, Enlarged kidney, Isomerism, Transposition of the... OMIM:314390
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... OMIM:619657
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Abnormal cerebellum morphology, Malar flattening, Holoprosencephaly, Micropenis, H... OMIM:612651
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Pachygyria, Death in childhood, Hypoplasia of the pons, Cerebellar hypoplasia, Age... OMIM:613153
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Heterotaxy, Pulmonic stenosis, Coarctation... ORPHA:3426
Band Heterotopia
Hydrocephalus, Macrocephaly, Polymicrogyria, Ventriculomegaly, Subcortical band heterotopia, Agen... OMIM:600348
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... OMIM:270100
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Ventriculomegaly, Decrease... ORPHA:500166
Joubert Syndrome
Hydrocephalus, Polymicrogyria, Cerebellar vermis hypoplasia, Encephalocele, Biparietal narrowing,... ORPHA:475
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Death in infancy, ... OMIM:619302
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Hydrocephalus, Renal hypoplasia/aplasia, Hypoplasia of penis, Holop... ORPHA:2166
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Absent septum pellucidum, Anterior encephalocele, Holoprosencephaly OMIM:601357
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Spina bifida occulta, Short stature OMIM:613686
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... OMIM:220210
Waardenburg Syndrome Type 1
Mandibular prognathia, Spina bifida, Meningocele ORPHA:894
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... ORPHA:2248
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Renal tubular acidosis, Atrial septal defect, Pulmonic sten... OMIM:610205
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Relative macrocephaly, Cerebellar hypoplasia, Renal cyst, Renal hypoplasia, Rh... OMIM:616300
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Renal cyst, Renal hypoplasia, Truncus arteriosus OMIM:228940
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Duplication Of The Pituitary Gland
Supernumerary tooth, Abnormal hypothalamus morphology, Short stature, Retrognathia, Microcephaly,... ORPHA:314621
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Macrocephaly, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar ve... OMIM:300864
Feingold Syndrome Type 1
Tricuspid atresia, Nephritis, Tricuspid stenosis, Abnormality of the kidney, Renal dysplasia, Pat... ORPHA:391641
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Hypospadias, Tetralogy of Fallot, Pulmonary ... OMIM:618316
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst... OMIM:145001
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Bardet-Biedl Syndrome 16
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency OMIM:615993
Holoprosencephaly 14
Hydrocephalus, Macrocephaly, Alobar holoprosencephaly, Aqueductal stenosis, Holoprosencephaly, Mi... OMIM:619895
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly OMIM:611638
Monosomy 18P
Short stature, Holoprosencephaly, Micrognathia, Microcephaly, Carious teeth ORPHA:1598
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... ORPHA:3400
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... OMIM:614980
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypoplastic left heart ORPHA:3316
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Multiple renal cysts, Tetralogy of Fallot, Ventricular septal defect, A... ORPHA:1166
Meckel Syndrome, Type 6
Aplasia of the bladder, Hydrocephalus, Anencephaly, Hepatic cysts, Renal cyst, Absent gallbladder... OMIM:612284
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Anterior encephalocele OMIM:614195
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Miscarriage, Severe short stature, Micrognathia, Microcephaly, Encephalocele ORPHA:1865
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... OMIM:612474
Heterotaxy, Visceral, 1, X-Linked
Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Horseshoe kidney, Card... OMIM:306955
Scimitar Syndrome
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... ORPHA:185
Pagod Syndrome
Renal hypoplasia/aplasia, Short stature, Microcephaly, Multicystic kidney dysplasia, Death in inf... ORPHA:991
Meckel Syndrome, Type 1
Hydrocephalus, Abnormality of the ureter, Anencephaly, Malformation of the hepatic ductal plate, ... OMIM:249000
Griscelli Syndrome
Hydrocephalus, Hepatomegaly, Short stature, Hepatitis, Encephalocele, Jaundice ORPHA:381
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Vent... OMIM:179613
Meckel Syndrome, Type 5
Bile duct proliferation, Renal cyst, Occipital encephalocele, Anencephaly OMIM:611561
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Total absence of the perica... OMIM:600001
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Ventricular septal defect, Pulmonary valve atresia, Parachute mitr... OMIM:265380
Autosomal Recessive Cutis Laxa Type 2A
Intrauterine growth retardation, Dysplastic corpus callosum, Abnormal cerebellar vermis morpholog... ORPHA:357058
Masa Syndrome
Hydrocephalus, Macrocephaly, Short stature, Microcephaly, Ventriculomegaly, Agenesis of corpus ca... OMIM:303350
Severe X-Linked Intellectual Disability, Gustavson Type
Severe postnatal growth retardation, Micrognathia, Microcephaly, Dilated fourth ventricle, Cerebe... ORPHA:3078
Microhydranencephaly
Short stature, Microcephaly, Cerebellar hypoplasia, Ventriculomegaly, Growth delay, Pachygyria, H... OMIM:605013
Trisomy 18
Microretrognathia, Holoprosencephaly, Short stature, Abnormality of the upper urinary tract, Micr... ORPHA:3380
Distal Tetrasomy 15Q
Atrial septal defect, Abnormality of the kidney, Nephroblastoma, Polycystic kidney dysplasia, Pat... ORPHA:314588
Lambotte Syndrome
Retrognathia, Microcephaly, Intrauterine growth retardation, Semilobar holoprosencephaly OMIM:245552
Otopalatodigital Syndrome Type 2
Myelomeningocele, Hydrocephalus, Malar flattening, Hypospadias, Micrognathia, Ureteral obstructio... ORPHA:90652
Chromosome 1Q41-Q42 Deletion Syndrome
Short stature, Holoprosencephaly, Microcephaly, Cerebellar hypoplasia, Ventriculomegaly OMIM:612530
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum, Rhizomelia OMIM:166990
Spinocerebellar Ataxia, Autosomal Recessive 13
Short stature, Dilated fourth ventricle, Inferior cerebellar vermis hypoplasia, Cerebellar atroph... OMIM:614831
Gómez-López-Hernández Syndrome
Hydrocephalus, Abnormal cerebellum morphology, Short stature, Abnormal brainstem morphology, Cere... ORPHA:1532
Cerebrooculonasal Syndrome
Hydrocephalus, Macrocephaly, Malar flattening, Optic nerve hypoplasia, Hypoplasia of the corpus c... OMIM:605627
Ossification Of The Posterior Longitudinal Ligament Of Spine
Myelopathy, Spinal cord compression OMIM:602475
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Hypospadias, Growth delay, Agenesis of cor... ORPHA:77298
Knobloch Syndrome 1
Occipital meningocele, Cerebral atrophy, Microcephaly, Renal duplication, Spina bifida occulta, P... OMIM:267750
16P13.11 Microduplication Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Micropenis, Tetralogy of Fallot, ... OMIM:618280
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Macrocephaly, Hepatomegaly, Periportal fibrosis, Holoprosencephaly, Cystic renal d... OMIM:269860
Frontorhiny
Basal encephalocele, Hypoplastic frontal sinuses, Cranium bifidum occultum, Hypoplasia of the max... ORPHA:391474
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Abnormal periventricular white matter mor... OMIM:615960
Pai Syndrome
Encephalocele, Aplasia/Hypoplasia of the corpus callosum ORPHA:1993
Meckel Syndrome
Hydrocephalus, Urethral atresia, Micrognathia, Microcephaly, Multicystic kidney dysplasia, Anence... ORPHA:564
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Stroke, Nephropathy, Hematuria, Renal cyst, Dilatation of the cerebral artery, Vascular dilatatio... OMIM:611773
Frontofacionasal Dysplasia
Hypoplasia of olfactory tract, Encephalocele, Hypoplasia of the corpus callosum, Short stature ORPHA:1791
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Vacterl/Vater Association
Intrauterine growth retardation, Hypoplasia of penis, Renal agenesis, Hypospadias, Multicystic ki... ORPHA:887
Joubert Syndrome 21
Elongated superior cerebellar peduncle, Hyperechogenic kidneys, Hypoplasia of the corpus callosum... OMIM:615636
Frontonasal Dysplasia 2
Microcephaly, Agenesis of cerebellar vermis, Hypoplasia of the corpus callosum, Cerebellar vermis... OMIM:613451
Adams-Oliver Syndrome
Hydrocephalus, Cirrhosis, Congenital hepatic fibrosis, Porencephalic cyst, Portal hypertension, E... ORPHA:974
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele OMIM:614416
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Polycystic kidney dysplasia, Pericardial effusion OMIM:608776
Microcephaly 17, Primary, Autosomal Recessive
Short stature, Renal agenesis, Microcephaly, Cerebellar hypoplasia, Ventriculomegaly, Simplified ... OMIM:617090
Halperin-Birk Syndrome
Intrauterine growth retardation, Micrognathia, Death in childhood, Ventriculomegaly, Umbilical he... OMIM:618651
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta OMIM:217085
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Neonatal short-limb short stature, Severe short stature, Malar flattening, Microgn... OMIM:224400
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Dilated fourth ventricle, Inferior cerebellar vermis hypo... ORPHA:370022
Lathosterolosis
Myelomeningocele, Cerebral atrophy, Micrognathia, Hepatosplenomegaly, Microcephaly, Elevated hepa... OMIM:607330
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Pachygyria OMIM:614173
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... ORPHA:229
Pentalogy Of Cantrell
Hydrocephalus, Renal agenesis, Hypospadias, Anencephaly, Renal dysplasia, Absent gallbladder, Enc... ORPHA:1335
Agnathia-Otocephaly Complex
Micrognathia, Mandibular aplasia, Agenesis of corpus callosum, Holoprosencephaly OMIM:202650
Renal-Hepatic-Pancreatic Dysplasia 1
Atrial septal defect, Aortic valve stenosis, Enlarged kidney, Situs inversus totalis, Hepatic cys... OMIM:208540
Spina Bifida-Hypospadias Syndrome
Hypospadias, Spinal dysraphism, Spina bifida ORPHA:3176
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Microform Holoprosencephaly
Hypoplasia of penis, Holoprosencephaly, Short stature, Renal agenesis, Microcephaly, Intrauterine... ORPHA:280200
Zaki Syndrome
Short stature, Renal agenesis, Micrognathia, Microcephaly, Dilated fourth ventricle, Hypoplasia o... OMIM:619648
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Pate... ORPHA:3304
Holoprosencephaly
Hydrocephalus, Macrocephaly, Hypoplasia of penis, Holoprosencephaly, Microcephaly, Spinal cord tu... ORPHA:2162
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Hydronephrosis, Tetralogy of Fallot ORPHA:251076
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar vermis atrophy, Short stature, Dilated fourth ventricle, Diffuse cerebral atrophy, Cer... ORPHA:1170
Split Cord Malformation
Myelomeningocele, Hydrocephalus, Cervical spina bifida, Tethered cord, Hypospadias, Spinal cord t... ORPHA:573278
16P13.11 Microdeletion Syndrome
Short stature, Holoprosencephaly, Microcephaly, Ventriculomegaly, Agenesis of corpus callosum ORPHA:261236
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coro... OMIM:132900
Fetal Akinesia Syndrome, X-Linked
Agenesis of corpus callosum, Stillbirth, Arrhinencephaly OMIM:300073
Holoprosencephaly-Caudal Dysgenesis Syndrome
Microcephaly, Renal insufficiency, Holoprosencephaly ORPHA:2165
Heart And Brain Malformation Syndrome
Ventricular septal defect, Interrupted aortic arch OMIM:616920
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Pulmonic stenosis, Cystic renal dysplasia, Enlarged kidney, Situs inversus... OMIM:615415
Smith-Lemli-Opitz Syndrome
Hydrocephalus, Hepatomegaly, Hypoplasia of the corpus callosum, Intrauterine growth retardation, ... OMIM:270400
Slc35A2-Cdg
Cerebral atrophy, Transient nephrotic syndrome, Short stature, Microcephaly, Cortical dysplasia, ... ORPHA:356961
Mosaic Variegated Aneuploidy Syndrome
Holoprosencephaly, Short stature, Micrognathia, Microcephaly, Multicystic kidney dysplasia, Nephr... ORPHA:1052
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Macrocephaly, Cerebral atrophy, Short stature, Hypoplasia of the corpus callosum, Molar tooth sig... ORPHA:166024
Velocardiofacial Syndrome
Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, Int... OMIM:192430
Developmental And Epileptic Encephalopathy 99
Thick corpus callosum, Perisylvian polymicrogyria, Microcephaly, Atrophy/Degeneration affecting t... OMIM:619606
Renpenning Syndrome
Anal atresia, High, narrow palate, Cleft palate, Heterotaxy, Hypospadias ORPHA:3242
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Partia... OMIM:304100
Orofaciodigital Syndrome Xiv
Microretrognathia, Supernumerary tooth, Holoprosencephaly, Micropenis, Micrognathia, Microcephaly... OMIM:615948
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Cerebellar vermis atrophy, Dilated fourth ventricle OMIM:619054
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Isolated Exencephaly
Abnormal facial skeleton morphology, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Hyp... ORPHA:563612
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Cleft palate, Long penis, Polycystic kidney dysplasia, Abnormal localiz... ORPHA:1988
22Q11.2 Deletion Syndrome
Cholelithiasis, Intrauterine growth retardation, Hydrocephalus, Abnormal dental enamel morphology... ORPHA:567
Joubert Syndrome 6
Elongated superior cerebellar peduncle, Nephronophthisis, Dilated fourth ventricle, Enlarged foss... OMIM:610688
Rare Non-Syndromic Intellectual Disability
Cerebral atrophy, Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Hypoplastic hi... ORPHA:101685
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Ureteral duplication, Tetra... ORPHA:2255
Joubert Syndrome 5
Impaired renal concentrating ability, Renal cortical cysts, Aplasia/Hypoplasia of the cerebellar ... OMIM:610188
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Abnormal renal morpho... ORPHA:477817
Joubert Syndrome 39
Cerebellar vermis hypoplasia, Polycystic kidney dysplasia, Occipital encephalocele, Molar tooth s... OMIM:619562
Holoprosencephaly 7
Hypoplasia of the premaxilla, Hydrocephalus, Macrocephaly, Alobar holoprosencephaly, Holoprosence... OMIM:610828
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Pachygyria, Abnormal penis morphology, Hypospadias, Abnormal cortical gyration, Po... ORPHA:2211
Genitourinary And/Or Brain Malformation Syndrome
Urogenital sinus anomaly, Chordee, Dysplastic corpus callosum, Macrocephaly, Holoprosencephaly, M... OMIM:618820
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Leukoencephalopathy, Death in childhood, Myelopathy, Cerebellar edema, Cerebral white matter atro... OMIM:617186
Holoprosencephaly-Craniosynostosis Syndrome
Microcephaly, Short stature, Holoprosencephaly ORPHA:2163
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm OMIM:613780
Meckel Syndrome 14
Microretrognathia, Holoprosencephaly, Retrognathia, Micrognathia, Polycystic kidney dysplasia, He... OMIM:619879
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Branchiootorenal Syndrome 1
High palate, Cleft palate, Unilateral renal agenesis, Abnormal renal collecting system morphology... OMIM:113650
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Cerebral atrophy, Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Ventriculomeg... ORPHA:85179
Mirror Movements 3
Situs inversus totalis OMIM:616059
Phaver Syndrome
Myelomeningocele, Intrauterine growth retardation ORPHA:2876
Trisomy 17P
Aortic valve stenosis, Hypoplasia of penis, Hypoplastic left heart, Polycystic kidney dysplasia, ... ORPHA:261290
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Atrial septal defect, Tetralogy of Fallot, Abnormal heart mor... OMIM:614954
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Retrognathia, Micrognathia, Agenesis of cerebellar vermis, Abnormal brainstem morp... ORPHA:163961
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Right aortic arch OMIM:617577
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Abnormal basal ganglia morphology, Cerebral atrophy, Microcephaly... ORPHA:255182
Fetal Encasement Syndrome
Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydroguanosine level, Tetralogy of Fallot OMIM:613630
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Hypospadias, Tetralogy of Fallot ORPHA:1919
Pallister-Hall Syndrome
Distal urethral duplication, Micropenis, Holoprosencephaly, Hypothalamic hamartoma, Hydroureter, ... OMIM:146510
Congenital Disorder Of Glycosylation, Type Ia
Nephrotic syndrome, Hepatomegaly, Microcephaly, Death in childhood, Dilated fourth ventricle, Cer... OMIM:212065
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Hepatomegaly, Renal cyst, Pachygyria, Colpocephaly OMIM:614870
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia, Abnormal heart morphology OMIM:263210
Ciliary Dyskinesia, Primary, 14
Situs inversus totalis, Heterotaxy OMIM:613807
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
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Sacral Defect With Anterior Meningocele
Myelomeningocele, Hydrocephalus, Tethered cord, Meningocele, Urinary retention, Myeloschisis, Hyd... OMIM:600145
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Enlarged kidney, Renal cy... OMIM:619902
Trisomy 8Q
Myelomeningocele, Displacement of the urethral meatus, Micrognathia, Hypoplasia of penis ORPHA:1752
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Adenomatous colonic polyposis, Multiple gastric polyps, Stomach cancer, J... ORPHA:480536
Exostoses, Multiple, Type Ii
Short stature, Cervical myelopathy OMIM:133701
Exostoses, Multiple, Type I
Short stature, Cervical myelopathy OMIM:133700
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Postnatal growth retardation, Short stature, Micrognathia, Microcephaly, Optic nerve hypoplasia, ... OMIM:300749
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Spina bifida occulta, Agenesis of c... OMIM:618736
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Diabetic Embryopathy
Hydrocephalus, Renal hypoplasia/aplasia, Micropenis, Micrognathia, Microcephaly, Ureteral duplica... ORPHA:1926
Cloacal Exstrophy
Myelomeningocele, Renal hypoplasia/aplasia, Hypoplasia of penis, Ureterocele, Hydroureter, Bladde... ORPHA:93929
Mosaic Variegated Aneuploidy Syndrome 1
Cerebral hypoplasia, Hydrocephalus, Malar flattening, Micropenis, Short stature, Hypospadias, Mic... OMIM:257300
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Malar flattening, Short stature, Hypospadias, Hypoplasia of the corpus callosum, H... OMIM:218350
1Q41Q42 Microdeletion Syndrome
Growth delay, Short stature, Holoprosencephaly ORPHA:250999
Wars2-Related Combined Oxidative Phosphorylation Defect
Leukoencephalopathy, Cerebral atrophy, Dilated fourth ventricle, Lateral ventricle dilatation, Ce... ORPHA:572798
Solitary Median Maxillary Central Incisor
Microcephaly, Short stature, Holoprosencephaly OMIM:147250
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Intrauterine growth retardation, Macrocephaly, Short stature, Hypospadias, Microcephaly, Microgna... OMIM:616975
Medullary cystic kidney disease 2
Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla... OMIM:603860
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Macrocephaly, Malar flattening, Short stature, Hypoplasia of the maxilla, Ventricu... OMIM:109120
Aortic Aneurysm, Familial Thoracic 8
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... OMIM:615436
Holoprosencephaly 9
Dental malocclusion, Hydrocephalus, Hypoplasia of the premaxilla, Malar flattening, Holoprosencep... OMIM:610829
Craniofacioskeletal Syndrome
Atrial septal defect, Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Hydroneph... OMIM:300712
Joubert Syndrome 8
Molar tooth sign on MRI, Occipital encephalocele, Hepatomegaly, Prolonged neonatal jaundice OMIM:612291
Ataxia-Telangiectasia-Like Disorder
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cerebellar atrophy, Short stature ORPHA:251347
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Dicarboxylic aciduria, Tubulointerstitial... ORPHA:228308
Smith-Lemli-Opitz Syndrome
Aplasia/Hypoplasia of the cerebellum, Advanced eruption of teeth, Rhizomelia, Intrauterine growth... ORPHA:818
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Abnormal basal ganglia morphology, Hepatomegaly, Hepatic failure, Hepatic calcific... ORPHA:157
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Abnormality of the kidney, Cystic renal dysplasia, Cerebellar hypoplasia, Ventricul... OMIM:613730
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Death in childhood, Microcephaly, Abnormal dentate nucleus morphology, Partial agenesis of the co... OMIM:619517
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long-chain dicarboxylic aciduria, Ureteral duplication, Enlarged kidney, Renal dysplasia, Dilated... OMIM:608836
Primary Ciliary Dyskinesia
Double outlet right ventricle, Anomalous pulmonary venous return, Situs inversus totalis, Abnorma... ORPHA:244
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal common carotid artery morphology, Abnormal aortic arch morphol... ORPHA:449400
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Atelosteogenesis, Type I
Disproportionate short-limb short stature, Malar flattening, Micrognathia, Neonatal death, Rhizom... OMIM:108720
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Short stature, Microcephaly, Ventriculomegaly, Enamel agenesis, Lobar holoprosencephaly OMIM:614701
Limb Body Wall Complex
Myelomeningocele, Hydrocephalus, Abnormality of the kidney, Short umbilical cord, Anencephaly, Sp... ORPHA:2369
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Oeis Complex
Myelomeningocele, Hydrocephalus, Vesicovaginal fistula, Tethered cord, Micropenis, Renal agenesis... OMIM:258040
1Q21.1 Microdeletion Syndrome
Abnormal cardiac septum morphology, Patent ductus arteriosus, Hydronephrosis, Interrupted aortic ... ORPHA:250989
Craniosynostosis 6
Microcephaly, Spina bifida occulta, Cerebellar atrophy, Agenesis of corpus callosum, Dandy-Walker... OMIM:616602
Machado-Joseph Disease Type 3
Degeneration of anterior horn cells, Dilated fourth ventricle, Abnormal lower motor neuron morpho... ORPHA:276244
Holoprosencephaly 3
Malar flattening, Holoprosencephaly, Microcephaly, Ventriculomegaly, Hydronephrosis OMIM:142945
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis, Renal cyst, Vascular dil... OMIM:617056
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Leukoencephalopathy, Hydrocephalus, Optic nerve hypoplasia, Hypoplasia of the pons, Cerebellar hy... OMIM:615181
Lumbar Syndrome
Myelomeningocele, Micropenis, Renal agenesis, Hypospadias, Renal duplication, Bladder exstrophy, ... ORPHA:83628
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... OMIM:611788
Prune Belly Syndrome
Urogenital sinus anomaly, Atrial septal defect, Abnormality of the ureter, Recurrent urinary trac... ORPHA:2970
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Ethmoidal encephalocele OMIM:607597
Pontocerebellar Hypoplasia Type 2
Dysplastic corpus callosum, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Abnormal co... ORPHA:2524
Trisomy 1Q
Hydrocephalus, Macrocephaly, Microretrognathia, Congenital megaureter, Multicystic kidney dysplas... ORPHA:261344
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Cavum septum pellucidum, Microcephaly, Hypoplasia of the pons, Cortic... ORPHA:300573
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Cleft palate, Hypospadias, Short uvula, Renal cyst, Polycystic kidney dysplasia, Ren... OMIM:614091
Machado-Joseph Disease Type 1
Dilated fourth ventricle, Degeneration of the striatum, Cerebellar atrophy, Spinocerebellar tract... ORPHA:276238
Machado-Joseph Disease Type 2
Dilated fourth ventricle, Degeneration of the striatum, Cerebellar atrophy, Spinocerebellar tract... ORPHA:276241
Maternal Phenylketonuria
Double outlet right ventricle, Hypoplastic left heart, Coarctation of aorta, Tetralogy of Fallot,... ORPHA:2209
Phocomelia, Schinzel Type
Hypoplasia of penis, Micrognathia, Meningocele, Disproportionate short stature, Intrauterine grow... ORPHA:2879
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Micropenis, Hypospadias, Intracranial hemorrhage, Ventricular septal defect... ORPHA:163979
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Micropenis, Renal agenesis, Pulmonary artery hypoplasia, Anomalous... ORPHA:2326
Combined Oxidative Phosphorylation Defect Type 27
Diffuse cerebellar atrophy, Hypoplasia of the corpus callosum, Diffuse cerebral atrophy, Abnormal... ORPHA:477774
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Cerebral cortical atrophy, Renal hypoplasia/aplasia, Short stature, Micrognathia, ... ORPHA:1834
Orofaciodigital Syndrome Xv
Agenesis of corpus callosum, Ventriculomegaly, Hydronephrosis, Molar tooth sign on MRI OMIM:617127
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Aortic valve stenosis, Hypoplastic left ... ORPHA:3097
Pancreatic Agenesis-Holoprosencephaly Syndrome
Holoprosencephaly, Hypoplasia of the zygomatic bone, Absent gallbladder, Semilobar holoprosenceph... ORPHA:556955
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus, Malar flattening, Aplasia/Hypoplasia of the cerebellum, Hypoplasia of the maxilla,... ORPHA:93262
Focal Dermal Hypoplasia
Myelomeningocele, Dental malocclusion, Hydrocephalus, Short stature, Microcephaly, Ureteral dupli... OMIM:305600
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glycosuria, Generalized aminoaciduria, Polycystic kidney dysplasia, Glutari... OMIM:231680
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Short Rib-Polydactyly Syndrome
Urogenital sinus anomaly, Nephronophthisis, Abnormality of the kidney, Hypospadias, Hepatic cysts... ORPHA:1505
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, 3-Methylglutaric aciduria, Polycystic kidney dysplasia, Glutaric aciduria,... ORPHA:26791
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Small basal ganglia, Dysplastic corpus callosum, Macrocephaly, Cerebral atrophy, Cerebellar hypop... OMIM:616900
Joubert Syndrome 10
Growth delay, Cerebellar vermis hypoplasia, Macrocephaly, Molar tooth sign on MRI OMIM:300804
Glycosylphosphatidylinositol Biosynthesis Defect 17
Growth delay, Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal renal collecting system morphology, Hypospadias, Methylmalonic aciduria, Coarctation of ... ORPHA:17
Jacobsen Syndrome
Hydrocephalus, Macrocephaly, Holoprosencephaly, Hypospadias, Microcephaly, Micrognathia, Intraute... OMIM:147791
Triopia
Encephalocele, Macrocephaly ORPHA:3374
Mucolipidosis Iv
Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Cerebellar atrophy OMIM:252650
Isolated Polycystic Liver Disease
Vascular dilatation, Multiple renal cysts ORPHA:2924
Nevus Comedonicus Syndrome
Microcephaly, Spina bifida, Spina bifida occulta ORPHA:64754
Birt-Hogg-Dube Syndrome
Renal neoplasm, Large intestinal polyposis, Renal cell carcinoma, Renal cyst, Colon cancer OMIM:135150
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Rhombencephalosynapsis, Dilated fourth ventricle, Cerebellar hypoplasia, Hypoplasia of the corpus... OMIM:619306
Spinocerebellar Ataxia 2
Urinary bladder sphincter dysfunction, Dilated fourth ventricle, Olivopontocerebellar atrophy, Ce... OMIM:183090
Chromosome 13Q14 Deletion Syndrome
Absent septum pellucidum, Holoprosencephaly, Micropenis, Micrognathia, Hypoplasia of the corpus c... OMIM:613884
Peroxisome Biogenesis Disorder 2A (Zellweger)
Polycystic kidney dysplasia, Aminoaciduria, Abnormal heart morphology OMIM:214110
Bresek Syndrome
Intrauterine growth retardation, Hydrocephalus, Optic nerve hypoplasia, Microcephaly, Hypoplasia ... ORPHA:85284
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Waardenburg Syndrome
Myelomeningocele ORPHA:3440
Microphthalmia, Syndromic 9
Atrial septal defect, Pulmonic stenosis, Single ventricle, Coarctation of aorta, Tetralogy of Fal... OMIM:601186
Marden-Walker Syndrome
Hydrocephalus, Abnormality of the upper urinary tract, Abnormal cerebellar vermis morphology, Int... ORPHA:2461
Camptodactyly Syndrome, Guadalajara Type 1
Dental malocclusion, Short stature, Microcephaly, Abnormality of dental eruption, Mandibular prog... ORPHA:1327
Perlman Syndrome
Nephrogenic rest, Nephroblastoma, Renal hamartoma, Nephroblastomatosis, Interrupted aortic arch OMIM:267000
Charge Syndrome
Intrauterine growth retardation, Aqueductal stenosis, Holoprosencephaly, Micropenis, Short statur... ORPHA:138
Joubert Syndrome 22
Temporal cortical atrophy, Agenesis of cerebellar vermis, Hypoplasia of the corpus callosum, Rena... OMIM:615665
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cerebral cortical atrophy, Short stature, Micrognathia, Microcephaly, Polymicrogyria, Hypoplasia ... OMIM:618454
Syndromic Diarrhea
Bicuspid aortic valve, Peripheral pulmonary artery stenosis, Atrial septal defect, Tetralogy of F... ORPHA:84064
Joubert Syndrome 4
Elongated superior cerebellar peduncle, Abnormal renal medulla morphology, Nephronophthisis, Cere... OMIM:609583
Atrial Septal Defect 1
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... OMIM:108800
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Ventricular septal defect, Polycystic kidney dysplasia, Patent ductus ... OMIM:606232
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Leukoencephalopathy, Cerebral atrophy, Short stature, Hypoplasia of the corpus callosum, Cerebell... OMIM:619260
Meckel Syndrome, Type 7
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Multicystic kidney dy... OMIM:267010
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... ORPHA:99125
Joubert Syndrome 3
Elongated superior cerebellar peduncle, Nephronophthisis, Frontal polymicrogyria, Cerebellar verm... OMIM:608629
Waardenburg Syndrome, Type 1
Myelomeningocele, Mandibular prognathia, Spina bifida OMIM:193500
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Coarctation of aorta,... ORPHA:371428
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Renal cyst, Atrial septal defect, Hepatic cysts OMIM:263630
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Anal atresia, Cleft palate, Micropenis, Intestinal malrotation, Bifid tongue, Renal dysplasia, En... OMIM:613091
Intellectual Developmental Disorder, Autosomal Dominant 65
Dysgenesis of the hippocampus, Micrognathia, Agenesis of corpus callosum, Noncommunicating hydroc... OMIM:619320
Transketolase Deficiency
Atrial septal defect, Abnormal coronary artery course, Increased level of ribose in urine, Ventri... ORPHA:488618
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic valve stenosis, Aortic root aneurysm, Atrial septal defect OMIM:618496
Spinocerebellar Ataxia 1
Dorsal column degeneration, Urinary bladder sphincter dysfunction, Spinocerebellar atrophy, Dilat... OMIM:164400
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Renal dysplasia, Polycystic kidney dysplasia, Renal insufficiency, Hyd... ORPHA:2237
Neu-Laxova Syndrome 2
Micrognathia, Microcephaly, Cerebellar hypoplasia, Lissencephaly, Ventriculomegaly, Spina bifida,... OMIM:616038
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Micropenis, Pulmonic stenosis, Hypospadias, Pulmonary artery atres... OMIM:301056
Fraser Syndrome 1
Myelomeningocele, Dental malocclusion, Hydrocephalus, Renal hypoplasia/aplasia, Micropenis, Hypos... OMIM:219000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Type II lissencephaly, Agyria, Lissencephaly,... OMIM:615249
Mosaic Trisomy 9
Hypoplasia of penis, Biparietal narrowing, Abnormal liver lobulation, Micrognathia, Microcephaly,... ORPHA:99776
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Gastrointestinal carcinoma, S... ORPHA:2869
Orofaciodigital Syndrome Vi
Short stature, Hypothalamic hamartoma, Micrognathia, Renal agenesis, Renal dysplasia, Cerebellar ... OMIM:277170
Fanconi Anemia, Complementation Group O
Renal cyst, Stage 5 chronic kidney disease, Hydronephrosis, Abnormal heart morphology OMIM:613390
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Patent ductus arteriosus, Atrial septal defect, Renal tubular dysf... OMIM:614886
Epidermal Nevus Syndrome
Polycystic kidney dysplasia, Aortic aneurysm ORPHA:35125
Hadziselimovic Syndrome
Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, R... OMIM:612946
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Hepatomegaly, Aminoaciduria, Retrognathia, Micrognathia, Microcephaly... OMIM:604273
Encephalocraniocutaneous Lipomatosis
Tricuspid valve prolapse, Aortic valve stenosis, Coarctation of aorta, Interrupted aortic arch, A... ORPHA:2396
Aortic Valve Disease 2
Calcification of the aorta, Bicuspid aortic valve, Coarctation of aorta, Aortic aneurysm OMIM:614823
Aortic Arch Interruption
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... ORPHA:2299
Adams-Oliver Syndrome 1
Pachygyria, Microcephaly, Cortical dysplasia, Polymicrogyria, Hypoplasia of the corpus callosum, ... OMIM:100300
Machado-Joseph Disease
Urinary bladder sphincter dysfunction, Cerebellar atrophy, Dilated fourth ventricle, Spinocerebel... OMIM:109150
Proboscis Lateralis
Macrocephaly, Abnormal facial skeleton morphology, Holoprosencephaly, Unilateral renal agenesis, ... ORPHA:141099