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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 2.82×10-05
preweaning lethality, complete penetrance Tmem67em1(IMPC)J HOM   Early adult 0.00
increased grip strength Tmem67em1(IMPC)J HET Early adult 5.51×10-05

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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 Skull Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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Electroretinography 3

Fundus file

15 Images

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Gross Morphology Embryo E9.5

Images

2 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

14 Images

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X-ray

XRay Images Forepaw

12 Images

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Eye Morphology

Images Slit Lamp

1 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 associated to Tmem67 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Intrahepatic biliary atresia, Congenital hepatic fibrosis, Neoplasm of the liver, C... ORPHA:1454
Coach Syndrome 1
Hepatomegaly, Hepatic fibrosis, Growth delay, Nephronophthisis, Encephalocele, Multiple small med... OMIM:216360
Meckel Syndrome, Type 3
Dandy-Walker malformation, Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibros... OMIM:607361
Joubert Syndrome
Encephalocele, Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Hydroceph... ORPHA:475
Meckel Syndrome
Dandy-Walker malformation, Micrognathia, Ureteral duplication, Lobar holoprosencephaly, Anencepha... ORPHA:564
Rhyns Syndrome
Abnormality of the liver, Multicystic kidney dysplasia, Nephronophthisis, Hypopituitarism ORPHA:140976
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation, Nephronophthisis, Stage 5 chronic kidney disease, Thic... OMIM:610688
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatosplenomegaly, Reduced renal corticomedullary d... ORPHA:84081
Nephronophthisis 11
Renal tubular atrophy, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney dis... OMIM:613550
Rhyns Syndrome
Short stature, Nephronophthisis, Pituitary hypothyroidism, Anterior hypopituitarism, Chronic kidn... OMIM:602152
Bardet-Biedl Syndrome 14
OMIM:615991

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, Tetralogy of Fallot, Pulmonic stenosis OMIM:601127
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease OMIM:617610
Nephronophthisis 16
Hypertrophic cardiomyopathy, Situs inversus totalis, Nephronophthisis, Patent ductus arteriosus, ... OMIM:615382
Genitopalatocardiac Syndrome
Hypospadias, Ventricular septal defect, Double outlet right ventricle, Renal cyst, Right aortic a... OMIM:231060
Lissencephaly 5
Subcortical band heterotopia, Cerebellar hemisphere hypoplasia, Leukoencephalopathy, Cerebellar v... OMIM:615191
Meckel Syndrome, Type 4
Meningocele, Dandy-Walker malformation, Intrauterine growth retardation, Anencephaly, Agenesis of... OMIM:611134
Heterotaxy, Visceral, 8, Autosomal
Ventricular septal defect, Abdominal situs inversus, Double outlet right ventricle, Atrial situs ... OMIM:617205
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Frontal Encephalocele
Encephalocele, Macrocephaly, Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephal... ORPHA:1931
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Cerebellar dysplasia, Arachn... OMIM:604213
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Micrognathia, Intrauterine growth retardation, Anencephaly, Short stature, Holoprose... ORPHA:1908
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Interrupted inferior vena cava with azygous continuation, Interrupted aortic arch, ... OMIM:616749
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Dysgyria, Hypoplasia of the brainstem, Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebral wh... ORPHA:352682
Dandy-Walker Syndrome
Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, Dilated fourth ventricle, Po... OMIM:220200
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Micrognathia, Hydranencephaly, Intrauterine growth retardation, Abnormality of the diencephalon, ... ORPHA:2570
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Absent hippocampal commissure, Abnormality of the anterior commissure, Hypoplasia of the pons, Hy... OMIM:617542
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ven... OMIM:617912
Subependymal Nodular Heterotopia
Meningocele, Partial agenesis of the corpus callosum, Abnormality of ethmoid bone, Myelomeningoce... ORPHA:101030
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Hydronephrosis, Anencephaly, Renal dysplasia, Renal cyst, Ventriculome... OMIM:615287
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Ventricular septal defect, Abnormal aortic arch morphology, Biventricula... ORPHA:860
Meckel Syndrome, Type 2
Meningocele, Dandy-Walker malformation, Intrauterine growth retardation, Anencephaly, Bile duct p... OMIM:603194
Hydrocephalus, Congenital, 3, With Brain Anomalies
Dandy-Walker malformation, Hydranencephaly, Holoprosencephaly, Ventriculomegaly, Macrocephaly, Hy... OMIM:617967
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Craniotelencephalic Dysplasia
Frontal encephalocele, Arrhinencephaly, Septo-optic dysplasia, Hydrocephalus, Cerebellar hypoplas... ORPHA:1528
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Cerebellar malformation, Hydrocephalus, Macrocephaly at birth, Occipital enceph... ORPHA:324416
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dilated third ventricle, Hypospadias, Short stature, Colpocephaly, Renal dysplasia, Rhizomelic ar... ORPHA:397715
Neural Tube Defects, Susceptibility To
Anencephaly, Myelomeningocele, Urinary incontinence, Hydrocephalus, Spina bifida occulta OMIM:182940
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Double outlet right ventricle, Patent ductus arteriosus, Bilateral renal a... OMIM:618845
Holoprosencephaly 5
Lobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Central diabetes insipidus, Hydrocep... OMIM:609637
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Arnold-Chiari Malformation Type Ii
Meningocele, Partial agenesis of the corpus callosum, Abnormality of the medulla oblongata, Myelo... ORPHA:1136
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Hepatic cysts, Stage 5 chronic kidney disease, Recurrent urinary tract in... OMIM:613095
Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence
Holoprosencephaly, Intrauterine growth retardation, Microcephaly OMIM:306990
Acalvaria
Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Spina bifida, Hydrocephalus ORPHA:945
Congenital Muscular Dystrophy With Cerebellar Involvement
Cerebellar cyst, Diffuse white matter abnormalities, Agenesis of corpus callosum, Dilated fourth ... ORPHA:370959
Triploidy
Meningocele, Hepatomegaly, Micrognathia, Hypospadias, Abnormality of the gallbladder, Intrauterin... ORPHA:3376
Pallister-Hall-Like Syndrome
Micrognathia, Death in infancy, Hypothalamic hamartoma, Renal dysplasia, Micropenis, Macrocephaly... OMIM:241800
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Neurocutaneous Melanocytosis
Meningocele, Dandy-Walker malformation, Chiari malformation, Death in infancy, Syringomyelia, Ven... ORPHA:2481
Dandy-Walker Malformation With Postaxial Polydactyly
Dandy-Walker malformation, Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, D... OMIM:220220
Muscle-Eye-Brain Disease
Meningocele, Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly, Hydrocephalus ORPHA:588
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... ORPHA:1209
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly, Cerebral cortical atrophy, Microcephaly ORPHA:2523
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dysgenesis of the hippocampus, Postnatal growth retardation, Polymicrogyria, Cerebellar hypoplasi... ORPHA:300570
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Aortic arch... ORPHA:1455
Craniotelencephalic Dysplasia
Frontal encephalocele, Arrhinencephaly, Optic nerve hypoplasia, Absent septum pellucidum, Cerebel... OMIM:218670
Acromelic Frontonasal Dysplasia
Meningocele, Choroid plexus cyst, Hypoplasia of the olfactory bulb, Encephalocele, Ventriculomega... ORPHA:1827
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral valve prolapse, Cerebral berry aneurysm, Hepatic cysts, Polycystic kidney dysplasia, Renal... OMIM:173900
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch OMIM:613751
Chiari Malformation Type Ii
Myelomeningocele, Syringomyelia, Cervical myelopathy, Spina bifida, Hydrocephalus, Agenesis of co... OMIM:207950
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Tricuspid atresia, Persis... OMIM:617478
Nephronophthisis 20
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mir... OMIM:606217
Distal Monosomy 13Q
Anencephaly, Short stature, Holoprosencephaly, Encephalocele, Renal hypoplasia/aplasia, Aplasia/H... ORPHA:1590
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Micropenis, Tetralogy of Fallot, Microphallus OMIM:615542
Orofaciodigital Syndrome I
Abnormal cortical gyration, Carious teeth, Hepatic fibrosis, Myelomeningocele, Pancreatic cysts, ... OMIM:311200
Joubert Syndrome 2
Brainstem dysplasia, Dysgenesis of the cerebellar vermis, Agenesis of cerebellar vermis, Abnormal... OMIM:608091
Cerebrocostomandibular Syndrome
Meningocele, Micrognathia, Hydranencephaly, Death in infancy, Myelomeningocele, Short stature, In... ORPHA:1393
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Hydranencephaly, Renal dysplasia, Neonatal death, Renal cyst, Stillbirth, Urete... OMIM:236500
Meckel Syndrome, Type 10
Hypospadias, Anencephaly, Renal cyst, Micropenis, Molar tooth sign on MRI, Occipital encephalocele OMIM:614175
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Hydronephrosis, Urethral stenosis, Displaceme... ORPHA:1727
Humero-Radial Synostosis
Meningocele, Microcephaly ORPHA:3265
Schisis Association
Renal agenesis, Anencephaly, Encephalocele, Spina bifida, Microcephaly ORPHA:63862
Mental Retardation, Autosomal Dominant 48
Hypospadias, Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Dilated fourth ventricle,... OMIM:617751
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Hydronephrosis, Myelomeningocele, Hydrocephalus, Spina bifida occulta, Ureteral atresia OMIM:183802
Hartsfield Syndrome
Encephalocele, Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus callosum, Lobar ... ORPHA:2117
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Short stature, Congenital hepatic fibrosis, Renal cyst, Ventriculomegaly, Multicysti... ORPHA:2031
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
Lathosterolosis
Meningocele, Hepatomegaly, Micrognathia, Chiari malformation, Horseshoe kidney, Intrauterine grow... ORPHA:46059
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Perisylvian polymicrogyria, Megalencephaly, Hypoplasia of the pons,... ORPHA:280195
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Bacterial endocarditis, Partial atrioventricular canal defect, Double outl... ORPHA:1330
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Abdominal situs inversus, Atrioventricular canal defect, Situs inversus totalis, Do... OMIM:605376
Right Atrial Isomerism
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Abdominal situs ... OMIM:208530
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar cyst, Death in infancy, Partial absence of cerebellar vermis, Cerebellar dysplasia, En... OMIM:613150
Truncus Arteriosus
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary arte... ORPHA:3384
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart OMIM:601348
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia, Dilatation of the cerebral artery OMIM:600666
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele, Encephalomalacia ORPHA:60015
Joubert Syndrome With Renal Defect
Encephalocele, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Hydrocephalus, Polymicrogyr... ORPHA:220497
Iniencephaly
Dandy-Walker malformation, Renal agenesis, Anencephaly, Myelomeningocele, Holoprosencephaly, Ence... ORPHA:63259
Lissencephaly 8
Lissencephaly, Ventriculomegaly, Hypoplasia of the brainstem, Polymicrogyria, Occipital encephalo... OMIM:617255
Arima Syndrome
Renal tubular atrophy, Occipital meningocele, Hepatomegaly, Brainstem dysplasia, Hepatic fibrosis... OMIM:243910
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum, Aqueduct... ORPHA:2182
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Dandy-Walker malformation, Partial agenesis of the corpus callosum, Encephalocele, Optic nerve hy... OMIM:614643
Distal Monosomy 7Q36
Micrognathia, Short stature, Holoprosencephaly, Hypoplasia of penis, Microcephaly ORPHA:1636
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Joubert Syndrome 1
Brainstem dysplasia, Dysgenesis of the cerebellar vermis, Occipital myelomeningocele, Hepatic fib... OMIM:213300
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Congenital Heart Defects, Multiple Types, 7
Pulmonary artery atresia, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral arterie... OMIM:618780
Joubert Syndrome 14
Dandy-Walker malformation, Growth delay, Encephalocele, Malar flattening, Renal cyst, Hydrocephalus OMIM:614424
Joubert Syndrome With Oculorenal Defect
Encephalocele, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Aplasia/Hypoplasia of the c... ORPHA:2318
Amish Lethal Microcephaly
Hepatomegaly, Micrognathia, Death in infancy, Organic aciduria, Ventriculomegaly, Cerebellar verm... ORPHA:99742
Holoprosencephaly, Recurrent Infections, And Monocytosis
Holoprosencephaly, Micropenis, Agenesis of corpus callosum, Microcephaly OMIM:610680
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Isolated Dandy-Walker Malformation
Dandy-Walker malformation, Encephalocele, Aplasia/Hypoplasia of the corpus callosum ORPHA:217
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... OMIM:617805
Distal 7Q11.23 Microduplication Syndrome
Frontal encephalocele, Chiari malformation, Hydrocephalus ORPHA:261102
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Ventriculomegaly, Decreased head circumference, Mild malformation of ... ORPHA:500166
Vissers-Bodmer Syndrome
Holoprosencephaly, Intrauterine growth retardation, Short stature, Decreased head circumference OMIM:619033
Ring Chromosome 21 Syndrome
Holoprosencephaly, Short stature, Microcephaly, Azoospermia ORPHA:1445
Thanatophoric Dysplasia Type 2
Short stature, Holoprosencephaly, Encephalocele, Ventriculomegaly, Macrocephaly, Hydrocephalus, A... ORPHA:93274
Indomethacin Embryofetopathy
Ventricular septal defect, Cardiomyopathy, Multicystic kidney dysplasia, Atrial septal defect, Ab... ORPHA:1909
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux OMIM:618270
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly, Micropenis, Agenesis of corpus callosum, Ventriculomegaly OMIM:615433
Caudal Duplication
Ureteral duplication, Abnormal penis morphology, Myelomeningocele, Spinal cord lesion, Renal hypo... ORPHA:1756
Joubert Syndrome 7
Brainstem dysplasia, Nephronophthisis, Encephalocele, Renal cyst, Abnormal corpus callosum morpho... OMIM:611560
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Hypospadias, Abnormality of the ureter, Intrauterine growth retardation, Short statu... ORPHA:2311
Isolated Hemihyperplasia
Nephroblastoma, Myelomeningocele ORPHA:2128
Holoprosencephaly 11
Holoprosencephaly, Agenesis of corpus callosum, Microcephaly OMIM:614226
Renal Tubular Dysgenesis
Proximal tubulopathy, Renotubular dysgenesis, Tetralogy of Fallot, Multiple renal cysts, Nephropathy ORPHA:3033
Endocrine-Cerebroosteodysplasia
Hypospadias, Micrognathia, Holoprosencephaly, Malar flattening, Ventriculomegaly, Micropenis, Apl... OMIM:612651
Chromosome 1Q41-Q42 Deletion Syndrome
Holoprosencephaly, Short stature, Microcephaly OMIM:612530
Hemihyperplasia, Isolated
Nephroblastoma, Myelomeningocele OMIM:235000
Congenital Vertical Talus
Myelomeningocele ORPHA:178382
Aortic Valve Disease 1
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... OMIM:109730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Dandy-Walker malformation, Micrognathia, Kinked brainstem, Cerebellar dysplasia, Renal dysplasia,... OMIM:236670
Arachnoid Cyst
Chiari malformation, Urinary bladder sphincter dysfunction, Holoprosencephaly, Encephalocele, Spi... ORPHA:2356
Coach Syndrome 2
Portal fibrosis, Hepatic fibrosis, Congenital hepatic fibrosis, Cerebellar vermis hypoplasia, Mol... OMIM:619111
15Q24 Microdeletion Syndrome
Hypospadias, Myelomeningocele, Short stature, Postnatal growth retardation, Decreased response to... ORPHA:94065
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Holoprosencephaly, Mandibular aplasia, Aplasia/Hypoplasia of the cerebellum, Hypoplasia of penis,... ORPHA:990
Diaphanospondylodysostosis
Multiple renal cysts, Myelomeningocele ORPHA:66637
Czeizel-Losonci Syndrome
Micrognathia, Hydronephrosis, Myelomeningocele, Abnormality of the urinary system, Congenital meg... ORPHA:2437
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Dandy-Walker malformation, Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, D... OMIM:220219
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypospadias, Polymicrogyria, Cerebellar hypoplasia, Cerebral atrophy, Unilateral renal agenesis, ... ORPHA:468631
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cerebellar cyst, Holoprosencephaly, Encephalocele, Lissencephaly, Pachygyria, Hypoplasia of the b... OMIM:253800
Vitamin K Antagonist Embryofetopathy
Intrauterine growth retardation, Hydrocephalus, Myelomeningocele ORPHA:1914
Acromelic Frontonasal Dysostosis
Choroid plexus cyst, Encephalocele, Ventriculomegaly, Hypopituitarism, Hypoplasia of the corpus c... OMIM:603671
Pseudotrisomy 13 Syndrome
Renal hypoplasia, Renal agenesis, Holoprosencephaly, Encephalocele, Micropenis, Hydrocephalus, Po... OMIM:264480
Meckel Syndrome 13
Micrognathia, Polycystic kidney dysplasia, Molar tooth sign on MRI, Cerebellar hypoplasia, Occipi... OMIM:617562
Joubert Syndrome With Ocular Defect
Encephalocele, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Hydrocephalus, Polymicrogyr... ORPHA:220493
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Thoraco-Abdominal Enteric Duplication
Meningocele, Hepatomegaly, Diastomatomyelia ORPHA:1759
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Dysplastic corpus callosum, Microcephaly OMIM:618276
Band Heterotopia
Subcortical band heterotopia, Ventriculomegaly, Macrocephaly, Hydrocephalus, Polymicrogyria, Agen... OMIM:600348
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Patent ductus art... OMIM:618164
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Intrahepatic biliary atresia, Congenital hepatic fibrosis, Neoplasm of the liver, C... ORPHA:1454
Joubert Syndrome 16
Dandy-Walker malformation, Nephronophthisis, Encephalocele, Renal cyst, Molar tooth sign on MRI OMIM:614465
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Holoprosencephaly, Anterior encephalocele, Absent septum pellucidum OMIM:601357
Double Outlet Right Ventricle
Ventricular septal defect, Truncus arteriosus, Double outlet right ventricle, Heterotaxy, Coarcta... ORPHA:3426
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Esophageal varix, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Polyc... OMIM:263200
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypospadias, Micrognathia, Holoprosencephaly, Encephalocele, Abnormal localization of kidney, Hyp... ORPHA:2166
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... OMIM:143400
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Transposition of the great arteries, Abdominal situs inversus OMIM:614779
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Poretti-Boltshauser Syndrome
Cerebellar cyst, Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Ab... OMIM:615960
Agnathia-Otocephaly Complex
Holoprosencephaly, Micrognathia, Mandibular aplasia, Agenesis of corpus callosum OMIM:202650
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Short stature, Simplified gyral pattern, Ventriculomegaly, Cerebellar hypo... OMIM:608716
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Atrioventricular canal defect, Isomerism, Urethral atresia, Transposition of the ... OMIM:314390
Posterior Meningocele
Meningocele, Occipital meningocele, Increased head circumference, Chiari malformation, Hydromyeli... ORPHA:268810
Coach Syndrome 1
Hepatomegaly, Hepatic fibrosis, Growth delay, Nephronophthisis, Encephalocele, Multiple small med... OMIM:216360
Meckel Syndrome, Type 3
Dandy-Walker malformation, Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibros... OMIM:607361
Lateral Meningocele Syndrome
Meningocele, Micrognathia, Chiari malformation, Malar flattening, Syringomyelia, Dural ectasia, C... ORPHA:2789
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Death in infancy, Simplified gyral pattern, Hypoplasia o... OMIM:619302
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Death i... OMIM:613153
Joubert Syndrome
Encephalocele, Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Hydroceph... ORPHA:475
Chromosome 13Q33-Q34 Deletion Syndrome
Dandy-Walker malformation, Hypospadias, Micrognathia, Anencephaly, Short stature, Encephalocele, ... OMIM:619148
Severe X-Linked Intellectual Disability, Gustavson Type
Dandy-Walker malformation, Micrognathia, Severe postnatal growth retardation, Dilated fourth vent... ORPHA:3078
Pagod Syndrome
Meningocele, Death in infancy, Short stature, Encephalocele, Multicystic kidney dysplasia, Renal ... ORPHA:991
Meckel Syndrome, Type 6
Anencephaly, Hepatic fibrosis, Bile duct proliferation, Renal cyst, Hydrocephalus, Occipital ence... OMIM:612284
Joubert Syndrome 13
Pachygyria, Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Spondylocostal Dysostosis 4, Autosomal Recessive
Spina bifida occulta, Myelomeningocele, Short stature OMIM:613686
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly, Macrocephaly OMIM:300706
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Coarctation of aorta, Aortic valve stenosis OMIM:241550
Ritscher-Schinzel Syndrome 1
Hypospadias, Ventricular septal defect, Hydronephrosis, Double outlet right ventricle, Pulmonic s... OMIM:220210
Lissencephaly 3
Lissencephaly, Ventriculomegaly, Pachygyria, Cerebellar vermis hypoplasia, Hypoplasia of the brai... OMIM:611603
Hypoplastic Left Heart Syndrome
Mitral atresia, Mitral stenosis, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal ... ORPHA:2248
Hydrolethalus Syndrome 2
Micrognathia, Anencephaly, Ventriculomegaly, Molar tooth sign on MRI, Hydrocephalus, Agenesis of ... OMIM:614120
Monosomy 18P
Carious teeth, Micrognathia, Short stature, Holoprosencephaly, Microcephaly ORPHA:1598
Wildervanck Syndrome
Meningocele ORPHA:3456
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Hypoplasia of the corpus callosum, Orbital encephalocele, Agenesis of ... OMIM:164180
Alagille Syndrome 2
Renal hypoplasia, Peripheral pulmonary artery stenosis, Renal tubular acidosis, Hematuria, Renal ... OMIM:610205
Aorta Coarctation
Bicuspid aortic valve, Coarctation of the descending aortic arch, Persistent left superior vena c... ORPHA:1457
Otopalatodigital Syndrome Type 2
Hypospadias, Ureteral obstruction, Micrognathia, Hydronephrosis, Myelomeningocele, Hypoplastic fr... ORPHA:90652
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis OMIM:617992
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Ventricular septal defect, Truncus arteriosus, Renal cyst OMIM:228940
Holoprosencephaly-Caudal Dysgenesis Syndrome
Holoprosencephaly, Renal insufficiency, Abnormality of the diencephalon, Microcephaly ORPHA:2165
Lambotte Syndrome
Retrognathia, Intrauterine growth retardation, Semilobar holoprosencephaly, Microcephaly OMIM:245552
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Horseshoe kidney, Ventricular septal defect, Abdominal situs inversus, Renal agenes... OMIM:306955
Waardenburg Syndrome Type 1
Meningocele, Spina bifida, Mandibular prognathia ORPHA:894
Feingold Syndrome Type 1
Interrupted aortic arch, Horseshoe kidney, Hydronephrosis, Tricuspid atresia, Tricuspid stenosis,... ORPHA:391641
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Nephrolithiasis, Polycystic kidney dysplasia, Papillary renal cell carcin... OMIM:145001
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Dandy-Walker malformation, Micrognathia, Hydranencephaly, Intrauterine growth retardation, Ventri... OMIM:225790
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
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Masa Syndrome
Short stature, Ventriculomegaly, Macrocephaly, Hydrocephalus, Agenesis of corpus callosum, Microc... OMIM:303350
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Unilateral polymicrogyria, Lissencephaly, Pachygyria, Cerebellar hypoplasia, Hypoplasia of the co... OMIM:610031
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Microcephaly 17, Primary, Autosomal Recessive
Renal agenesis, Microlissencephaly, Short stature, Simplified gyral pattern, Ventriculomegaly, Hy... OMIM:617090
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Short stature, Dilated fourth ventricle, Cerebellar vermis atrophy, Diffuse c... ORPHA:1170
Bardet-Biedl Syndrome 16
Renal agenesis, Renal dysplasia, Renal cyst, Renal insufficiency, Abnormality of the kidney OMIM:615993
Lissencephaly 4
Growth delay, Short stature, Simplified gyral pattern, Cerebellar hypoplasia, Lissencephaly, Agen... OMIM:614019
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Frontonasal Dysplasia 1
Anterior basal encephalocele, Hypoplastic frontal sinuses, Pericallosal lipoma, Cranium bifidum o... OMIM:136760
Dandy-Walker Malformation With Occipital Cephalocele, Autosomal Dominant
Dandy-Walker malformation, Atretic occipital cephalocele, Macrocephaly at birth OMIM:609222
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Renal hypoplasia, Ventricular septal defect, Ascending tubular aorta aneurysm, Abdo... OMIM:270100
Trisomy 18
Hydronephrosis, Chiari malformation, Intrauterine growth retardation, Anencephaly, Short stature,... ORPHA:3380
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Aortic an... OMIM:614980
Pseudoprogeria Syndrome
Growth delay, Short stature, Cranium bifidum occultum, Spinal arachnoid cyst, Microcephaly ORPHA:2985
Aorto-Ventricular Tunnel
Abnormal aortic morphology, Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary arte... ORPHA:3400
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Hypospadias, Ventricular septal defect, Double outlet right ventricle, Patent ductus arteriosus, ... OMIM:618316
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... OMIM:612474
Scimitar Syndrome
Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arteriosus, Anomalous pulmona... ORPHA:185
Lateral Meningocele Syndrome
Meningocele, Micrognathia, Short stature, Malar flattening, Syringomyelia, Arachnoid cyst, Dural ... OMIM:130720
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Abnormal aortic morphology, Renal hypoplasia/aplasia, Abnormality of t... ORPHA:1166
Autosomal Recessive Cutis Laxa Type 2A
Dandy-Walker malformation, Dysplastic corpus callosum, Intrauterine growth retardation, Dilated f... ORPHA:357058
Oculoauriculofrontonasal Syndrome
Micrognathia, Encephalocele, Pericallosal lipoma, Macrocephaly, Microcephaly ORPHA:398156
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Cerebellar atrophy, Intrauterine growth retardation, Cerebral calcification, Death ... OMIM:610333
Isolated Exencephaly
Posterior pituitary agenesis, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Anterior p... ORPHA:563612
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, Growth delay, Holoprosencephaly, Hydrocephalus, Hypoplasia of penis, Agenesis of cor... ORPHA:77298
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Hydronephrosis, Double outlet right ventricle, Patent ductus arteriosu... OMIM:179613
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Ventricular septal defect, Ureteral duplication, Truncus arteriosus, Hyp... OMIM:600001
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly OMIM:611638
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Short stature, Molar tooth sign on MRI, Macrocephaly, Cerebral atrophy, Hypoplasia of the corpus ... ORPHA:166024
Thomas Syndrome
Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia ORPHA:3316
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Ventriculomegaly, Hypoplastic hippocampus, Cerebral atro... ORPHA:85179
Slc35A2-Cdg
Dandy-Walker malformation, Abnormal midbrain morphology, Cerebellar atrophy, Intrauterine growth ... ORPHA:356961
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Cervical spina bifida, Spinal dysraphism ORPHA:63260
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Colpocephaly, Renal cyst, Decreased liver function, Pachygyria OMIM:614870
Absent Eyebrows And Eyelashes With Mental Retardation
Encephalocele, Microcephaly OMIM:200130
Holoprosencephaly
Dandy-Walker malformation, Hypoplasia of penis, Holoprosencephaly, Encephalocele, Abnormality of ... ORPHA:2162
Halperin-Birk Syndrome
Micrognathia, Intrauterine growth retardation, Umbilical hernia, Colpocephaly, Ventriculomegaly, ... OMIM:618651
Meckel Syndrome, Type 1
Dandy-Walker malformation, Micrognathia, Abnormality of the ureter, Malformation of the hepatic d... OMIM:249000
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Periventricular cysts, Abnormal corpus callosum morphology, Ventriculomegaly, Abnormal brainstem ... ORPHA:255182
49,Xxxxy Syndrome
Carious teeth, Arrhinencephaly, Hypoplasia of penis, Short stature, Azoospermia, Holoprosencephal... ORPHA:96264
Distal Tetrasomy 15Q
Horseshoe kidney, Hydronephrosis, Abnormal heart morphology, Patent ductus arteriosus, Polycystic... ORPHA:314588
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Gómez-López-Hernández Syndrome
Short stature, Abnormal brainstem morphology, Cerebellar vermis hypoplasia, Hydrocephalus, Abnorm... ORPHA:1532
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Short stature, Dilated fourth ventricle, Inferior vermis hypoplasia, Retrocer... OMIM:614831
Microform Holoprosencephaly
Renal agenesis, Intrauterine growth retardation, Short stature, Holoprosencephaly, Panhypopituita... ORPHA:280200
Rare Non-Syndromic Intellectual Disability
Dysgenesis of the basal ganglia, Absent septum pellucidum, Hypoplastic hippocampus, Polymicrogyri... ORPHA:101685
Adams-Oliver Syndrome
Congenital hepatic fibrosis, Encephalocele, Cirrhosis, Porencephalic cyst, Hydrocephalus, Periven... ORPHA:974
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Ventriculomegaly, Primary microcephaly, Polymicrogyria, Cerebellar hypoplasia, Agenesis of corpus... ORPHA:171703
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Bicuspid aortic valve, Dysplastic tricuspid valve, Patent ductus arteriosus, Misalig... OMIM:265380
Meckel Syndrome, Type 8
Hyperechogenic kidneys, Encephalocele, Microcephaly OMIM:613885
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Inferior vermis hypoplasia, Hydrocephalus, Cerebellar hy... OMIM:304100
Ventriculomegaly And Arthrogryposis
Micrognathia, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly OMIM:619501
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Death in childhood, Hypoplastic hippocampus, Thin corpus... OMIM:619517
Cerebrooculonasal Syndrome
Encephalocele, Malar flattening, Cerebellar vermis hypoplasia, Macrocephaly, Hydrocephalus, Hypop... OMIM:605627
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Cerebellar atrophy, Schizencephaly, Hypoplasia of the pons, Dysgenesi... ORPHA:300573
Meckel Syndrome
Dandy-Walker malformation, Micrognathia, Ureteral duplication, Lobar holoprosencephaly, Anencepha... ORPHA:564
Mosaic Variegated Aneuploidy Syndrome
Dandy-Walker malformation, Micrognathia, Intrauterine growth retardation, Growth delay, Short sta... ORPHA:1052
Spina Bifida-Hypospadias Syndrome
Hypospadias, Spina bifida, Spinal dysraphism ORPHA:3176
Renal-Hepatic-Pancreatic Dysplasia 1
Pancreatic cysts, Renal dysplasia, Hepatic cysts, Patent ductus arteriosus, Enlarged kidney, Poly... OMIM:208540
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Polycystic kidney dysplasia, Pericardial effusion OMIM:608776
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Hypospadias, Abnormal penis morphology, Encephalocele, Pachygyria, Ma... ORPHA:2211
Joubert Syndrome 9
Hepatic fibrosis, Encephalocele, Stage 5 chronic kidney disease, Ventriculomegaly, Molar tooth si... OMIM:612285
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Micrognathia, Agenesis of cerebellar vermis, Abnormal cerebral cortex ... ORPHA:163961
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Ventricular septal defect, Abnormal descending aorta morphology,... ORPHA:99050
16P13.11 Microdeletion Syndrome
Short stature, Holoprosencephaly, Ventriculomegaly, Agenesis of corpus callosum, Microcephaly ORPHA:261236
Vacterl/Vater Association
Hypospadias, Hydronephrosis, Renal agenesis, Abnormality of the gallbladder, Anencephaly, Intraut... ORPHA:887
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Cerebellar dysplasia, Dilated fourth ventricle, Inferior vermis hypoplasia, Abno... ORPHA:370022
Griscelli Syndrome
Hepatomegaly, Short stature, Encephalocele, Hepatitis, Hydrocephalus, Jaundice ORPHA:381
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Aplasia/Hypoplasia of the cerebellar vermis, Macrocephaly, Hydrocephalus, Dilation of lateral ven... OMIM:300864
Short-Rib Thoracic Dysplasia 12
Cystic renal dysplasia, Hepatomegaly, Renal hypoplasia, Intrauterine growth retardation, Anenceph... OMIM:269860
Pallister-Hall Syndrome
Renal hypoplasia, Hydronephrosis, Intrauterine growth retardation, Short stature, Holoprosencepha... OMIM:146510
Meckel Syndrome, Type 5
Abnormality of the urinary system, Bile duct proliferation, Anencephaly, Occipital encephalocele OMIM:611561
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micrognathia, Encephalocele, Severe short stature, Hydrocephalus, Microcephaly ORPHA:1865
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Craniofacial Microsomia
Micrognathia, Renal agenesis, Ectopic kidney, Malar flattening, Branchial anomaly, Multicystic ki... OMIM:164210
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis OMIM:217085
Pentalogy Of Cantrell
Hypospadias, Renal agenesis, Anencephaly, Encephalocele, Renal dysplasia, Absent gallbladder, Hyd... ORPHA:1335
Lathosterolosis
Horseshoe kidney, Micrognathia, Myelomeningocele, Growth delay, Elevated hepatic transaminase, He... OMIM:607330
Diabetic Embryopathy
Micrognathia, Ureteral duplication, Hydronephrosis, Aplasia/Hypoplasia of the cerebellum, Micrope... ORPHA:1926
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Dysplastic corpus callosum OMIM:613162
8P23.1 Duplication Syndrome
Ventricular septal defect, Tetralogy of Fallot, Hydronephrosis, Pulmonic stenosis ORPHA:251076
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Anterior encephalocele, Hydrocephalus OMIM:614195
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Hepatomegaly, Ventriculomegaly, Cerebellar hypoplasia, Ectopic kidney, Se... OMIM:613730
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Persistent left superior vena cava, Double outlet right ventricle, Patent ductus arteriosus, Pulm... ORPHA:3304
Holoprosencephaly-Craniosynostosis Syndrome
Holoprosencephaly, Short stature, Microcephaly ORPHA:2163
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Cystic renal dysplasia, Truncus arteriosus, Situs inversus totalis, ... OMIM:615415
Limb Body Wall Complex
Short umbilical cord, Anencephaly, Myelomeningocele, Encephalocele, Abnormality of the spinal cor... ORPHA:2369
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Micrognathia, Short stature, Dilated fourth ventricle, Hypoplasia of the pons, Optic nerve hypopl... OMIM:300749
Solitary Median Maxillary Central Incisor
Short stature, Holoprosencephaly, Anterior hypopituitarism, Decreased response to growth hormone ... OMIM:147250
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Cerebral white matter hypoplasia, Intrauterine growth retardation, Dilated fo... ORPHA:572798
Holoprosencephaly 9
Abnormal cortical gyration, Partial agenesis of the corpus callosum, Short stature, Holoprosencep... OMIM:610829
22Q11.2 Deletion Syndrome
Meningocele, Carious teeth, Arrhinencephaly, Micrognathia, Hypospadias, Occipital myelomeningocel... ORPHA:567
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Ventricular septal defect OMIM:616920
Velocardiofacial Syndrome
Interrupted aortic arch, Ventricular septal defect, Right aortic arch with mirror image branching... OMIM:192430
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Hypoplasia of the pons, Optic nerve hypoplasia, Dilation of lateral ve... OMIM:618736
Renpenning Syndrome
Hypospadias, High, narrow palate, Cleft palate, Heterotaxy, Anal atresia ORPHA:3242
Autosomal Dominant Polycystic Kidney Disease
Abnormal systemic arterial morphology, Mitral valve prolapse, Pancreatic cysts, Aortic root aneur... ORPHA:730
Frontonasal Dysplasia 2
Encephalocele, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Microcephaly OMIM:613451
Phaver Syndrome
Intrauterine growth retardation, Myelomeningocele ORPHA:2876
Orofaciodigital Syndrome Xiv
Dandy-Walker malformation, Micrognathia, Microretrognathia, Holoprosencephaly, Supernumerary toot... OMIM:615948
Femoral-Facial Syndrome
Cleft palate, Long penis, Abnormal localization of kidney, Renal hypoplasia/aplasia, Polycystic k... ORPHA:1988
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Dilated fourth ventricle, Cerebellar vermis atrophy OMIM:619054
Familial Aortic Dissection
Aortic dissection, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, ... ORPHA:229
Machado-Joseph Disease Type 3
Cerebellar atrophy, Dilated fourth ventricle, Degeneration of the striatum, Neurogenic bladder, S... ORPHA:276244
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Ventricular septal defect, Ureteral duplication, Hypoplasia of right ven... ORPHA:2255
Combined Oxidative Phosphorylation Defect Type 27
Diffuse cerebellar atrophy, Hypoplastic hippocampus, Abnormal cerebral white matter morphology, H... ORPHA:477774
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Short stature, Abnormal hypothalamus morphology, Encephalocele, Sup... ORPHA:314621
Machado-Joseph Disease Type 1
Cerebellar atrophy, Dilated fourth ventricle, Degeneration of the striatum, Spinocerebellar tract... ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Dilated fourth ventricle, Degeneration of the striatum, Spinocerebellar tract... ORPHA:276241
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Micrognathia, Intrauterine growth retardation, Short stature, Hypoplasia of the pons... OMIM:616975
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Frontal encephalocele, Intrauterine growth retardation, Agenesis of corpus callosum ORPHA:521308
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal arteriolar tortuosity, Hematuria, Renal cyst, Vascular dilatation, Nephropathy, Renal ins... OMIM:611773
Leber Congenital Amaurosis
Encephalocele, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:65
Bilateral Frontoparietal Polymicrogyria
Increased head circumference, Cerebellar dysplasia, Hypoplasia of the pons, Ventriculomegaly, Cer... ORPHA:101070
Alg3-Cdg
Dandy-Walker malformation, Neural tube defect, Cerebral white matter atrophy, Abnormal cerebral m... ORPHA:79321
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cava, Abnormal he... ORPHA:477817
Holoprosencephaly 3
Hydronephrosis, Holoprosencephaly, Malar flattening, Ventriculomegaly, Central diabetes insipidus... OMIM:142945
Aortic Aneurysm, Familial Thoracic 7
Ascending aortic dissection, Descending aortic dissection, Aortic rupture, Aortic aneurysm OMIM:613780
Mosaic Variegated Aneuploidy Syndrome 1
Dandy-Walker malformation, Hypospadias, Micrognathia, Intrauterine growth retardation, Short stat... OMIM:257300
Phenobarbital Embryopathy
Hypospadias, Tetralogy of Fallot, Abnormal mitral valve morphology ORPHA:1919
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Rectal atresia, Anal atresia OMIM:613390
Branchiootorenal Syndrome 1
High palate, Cleft palate, Renal agenesis, Renal malrotation, Renal dysplasia, Bifid uvula, Intes... OMIM:113650
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Aortic dissection, Cystic medial necrosi... OMIM:132900
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Trisomy 8Q
Displacement of the urethral meatus, Micrognathia, Hypoplasia of penis, Myelomeningocele ORPHA:1752
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Right aortic arch OMIM:617577
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Growth delay, Primary microcephaly OMIM:618010
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Short stature, Malar flattening, Ventriculomegaly, Macrocephaly, Hydrocephalus, Hypoplasia of the... OMIM:109120
Split Cord Malformation
Meningocele, Hydromyelia, Hypospadias, Chiari malformation, Horseshoe kidney, Myelomeningocele, H... ORPHA:573278
Trisomy 17P
Urethral valve, Hydronephrosis, Hypoplasia of penis, Urethral stenosis, Patent ductus arteriosus,... ORPHA:261290
Cloacal Exstrophy
Horseshoe kidney, Myelomeningocele, Hydroureter, Renal hypoplasia/aplasia, Spina bifida, Ureterop... ORPHA:93929
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Micrognathia, Neonatal short-limb short stature, Encephalocele, Malar flattening, Severe short st... OMIM:224400
Craniosynostosis 6
Dandy-Walker malformation, Cerebellar atrophy, Abnormal corpus callosum morphology, Spina bifida ... OMIM:616602
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Arrhinencephaly, Agenesis of corpus callosum OMIM:300073
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Abnormal heart morphology, Atrial septal defect, Tetralogy of... OMIM:614954
Orofaciodigital Syndrome Xv
Hydronephrosis, Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly OMIM:617127
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hyp... OMIM:619306
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Hepatomegaly, Hepatic calcification, Myoglobinuria, Tubulointerstitial ne... ORPHA:157
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Intrauterine growth retardation, Agenesis of corpus callosum, Agenesis of cerebell... ORPHA:228390
Meckel Syndrome, Type 9
Multicystic kidney dysplasia, Occipital encephalocele OMIM:614209
Msh3-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Juvenile gastrointestinal polyposis, Neoplasm of the rectum, Stomach cancer... ORPHA:480536
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Dandy-Walker malformation, Renal hypoplasia, Hypoplastic facial bones, Encephalocele, Rhizomelia,... OMIM:616300
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal heart morphology, Polycystic kidney dysplasia OMIM:263210
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia, Intestinal malrotation ORPHA:3032
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Cerebellar cyst, Dysplastic corpus callosum, Ventriculomegaly, Cerebe... ORPHA:2524
Genitourinary And/Or Brain Malformation Syndrome
Hypospadias, Micrognathia, Dysplastic corpus callosum, Holoprosencephaly, Colpocephaly, Chordee, ... OMIM:618820
Mucolipidosis Iv
Cerebellar atrophy, Cerebral dysmyelination, Dysplastic corpus callosum, Microcephaly OMIM:252650
Smith-Lemli-Opitz Syndrome
Hypoplasia of the frontal lobes, Dandy-Walker malformation, Micrognathia, Hydronephrosis, Hypospa... OMIM:270400
Ciliary Dyskinesia, Primary, 14
Situs inversus totalis, Heterotaxy OMIM:613807
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Optic nerve hypoplasia, Leukoencep... OMIM:615181
Microhydranencephaly
Hydranencephaly, Short stature, Ventriculomegaly, Pachygyria, Hypoplasia of the brainstem, Cerebe... OMIM:605013
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Joubert Syndrome 22
Renal hypoplasia, Temporal cortical atrophy, Intrauterine growth retardation, Agenesis of cerebel... OMIM:615665
Smith-Lemli-Opitz Syndrome
Hypospadias, Short stature, Abnormal localization of kidney, Abnormal dental enamel morphology, A... ORPHA:818
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Lobar holoprosencephaly, Short stature, Ventriculomegaly, Microcephaly, Enamel agenesis OMIM:614701
Lumbar Syndrome
Hypospadias, Renal agenesis, Myelomeningocele, Renal duplication, Micropenis, Spina bifida, Vesic... ORPHA:83628
Nevus Comedonicus Syndrome
Spina bifida, Microcephaly, Spina bifida occulta ORPHA:64754
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Ventriculomegaly, Cerebellar vermis hypoplasia, Fetal pyelectasis, Ma... OMIM:616900
Axial Mesodermal Dysplasia Spectrum
Micrognathia, Abnormality of the ureter, Hydronephrosis, Short stature, Abnormality of the urinar... ORPHA:1834
Craniofacioskeletal Syndrome
Interrupted aortic arch, Hypospadias, Ventricular septal defect, Hydronephrosis, Patent ductus ar... OMIM:300712
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Subvalvular aortic stenosis, Left ventricular hypertrophy, Tetralogy o... OMIM:108900
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Tubulointerstitial nephritis, Red-brown urine, Hydrocephalus, Polymicrogyria, Abnormality of the ... ORPHA:228308
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Coronary artery aneurysm, Abdominal aortic aneurysm, Ascending aortic... OMIM:615436
Ataxia-Telangiectasia-Like Disorder
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebellar atrophy, Short stature ORPHA:251347
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... OMIM:603860
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Holoprosencephaly 7
Hypoplasia of the premaxilla, Macrocephaly, Hydrocephalus, Panhypopituitarism, Alobar holoprosenc... OMIM:610828
Holoprosencephaly 2
Holoprosencephaly, Malar flattening, Anterior pituitary agenesis, Cerebellar hypoplasia, Agenesis... OMIM:157170
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Igg4-Related Aortitis
Aortic dissection, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Hydronephro... ORPHA:449400
Frontorhiny
Hypoplastic frontal sinuses, Encephalocele, Pericallosal lipoma, Aplasia/Hypoplasia of the corpus... ORPHA:391474
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Ureteral duplication, Hydronephrosis, Cardiomegaly, Polycystic kidney dys... OMIM:608836
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Ascending tubular aorta aneurysm, Premature coronary artery atherosclerosis,... OMIM:611788
Primary Ciliary Dyskinesia
Persistent left superior vena cava, Situs inversus totalis, Abnormal heart morphology, Double out... ORPHA:244
Pancreatic Agenesis-Holoprosencephaly Syndrome
Intrauterine growth retardation, Holoprosencephaly, Hypoplasia of the zygomatic bone, Absent gall... ORPHA:556955
1Q41Q42 Microdeletion Syndrome
Holoprosencephaly, Growth delay, Short stature ORPHA:250999
Fraser Syndrome 1
Abnormal cortical gyration, Hypospadias, Renal hypoplasia, Myelomeningocele, Encephalocele, Renal... OMIM:219000
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Short stature, Mandibular prognathia, Abnormality of dental erup... ORPHA:1327
Maternal Phenylketonuria
Ventricular septal defect, Double outlet right ventricle, Abnormal heart morphology, Coarctation ... ORPHA:2209
Jacobsen Syndrome
Hypospadias, Micrognathia, Intrauterine growth retardation, Holoprosencephaly, Macrocephaly, Hydr... OMIM:147791
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Renal cyst, Vascular dilatation, Nephropathy, Chronic kidney ... OMIM:617056
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, High palate, Cleft palate, Renal cyst, Short uvula, Polycystic kid... OMIM:614091
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Renal agenesis, Double outlet right ventricle, Pulmonary artery hypoplasi... ORPHA:2326
Orofaciodigital Syndrome Vi
Micrognathia, Renal agenesis, Short stature, Hypothalamic hamartoma, Renal dysplasia, Cerebellar ... OMIM:277170
Gaba-Transaminase Deficiency
Retrognathia, Agenesis of corpus callosum, Cerebellar hypoplasia, Death in childhood OMIM:613163
Phocomelia, Schinzel Type
Meningocele, Micrognathia, Intrauterine growth retardation, Hypoplasia of penis, Disproportionate... ORPHA:2879
Meacham Syndrome
Horseshoe kidney, Ventricular septal defect, Conotruncal defect, Hypoplasia of penis, Situs inver... ORPHA:3097
Pontocerebellar Hypoplasia, Type 13
Dandy-Walker malformation, Hypoplasia of the pons, Decreased liver function, Cerebellar vermis hy... OMIM:618606
Cocaine Embryofetopathy
Abnormality of the urinary system, Encephalocele ORPHA:1911
Prune Belly Syndrome
Ventricular septal defect, Abnormality of the ureter, Congenital posterior urethral valve, Patent... ORPHA:2970
Frontofacionasal Dysplasia
Encephalocele, Hypoplasia of the corpus callosum, Hypoplasia of olfactory tract, Short stature ORPHA:1791
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Micrognathia, Hydronephrosis, Short stature, Microphallus, Atrophy/Degeneration... OMIM:618454
Focal Dermal Hypoplasia
Horseshoe kidney, Ureteral duplication, Hydronephrosis, Agenesis of corpus callosum, Myelomeningo... OMIM:305600
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Renal cortical cysts, Generalized aminoaciduria, Proximal tubulopathy, Glu... OMIM:231680
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect OMIM:212090
Fraser Syndrome
Hypospadias, Renal hypoplasia, Death in infancy, Myelomeningocele, Urethral atresia, Encephalocel... ORPHA:2052
Joubert Syndrome 21
Renal cyst, Hypoplasia of the brainstem, Hyperechogenic kidneys, Occipital encephalocele, Hypopla... OMIM:615636
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Dysplastic corpus callosum, Short stature, Mild short stature, Optic nerve hy... OMIM:614833
Cerebellar-Facial-Dental Syndrome
Macrodontia of permanent maxillary central incisor, Abnormal midbrain morphology, Micrognathia, H... ORPHA:444072
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Horseshoe kidney, Short stature, Malar flattening, Ventriculomegaly, Hydrocephalus, ... OMIM:218350
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Hypospadias, Ventricular septal defect, Hydronephrosis, Patent ductus ar... ORPHA:163979
Bresek Syndrome
Renal hypoplasia, Intrauterine growth retardation, Growth delay, Renal dysplasia, Optic nerve hyp... ORPHA:85284
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Growth delay, Short stature, Hypoplastic hippocampus, Dilatio... ORPHA:208447
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Hydronephrosis, Patent ductus arteriosus, Abnormal cardiac septum morpho... ORPHA:250989
Joubert Syndrome 10
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Macrocephaly, Growth delay OMIM:300804
Meacham Syndrome
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Horseshoe kidney, Persistent left... OMIM:608978
Marden-Walker Syndrome
Hypospadias, Renal dysplasia, Hydrocephalus, Cerebellar hypoplasia, Micrognathia, Renal agenesis,... ORPHA:2461
Short Rib-Polydactyly Syndrome
Hypospadias, Abnormal heart morphology, Situs inversus totalis, Hepatic cysts, Nephronophthisis, ... ORPHA:1505
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Optic nerve hypoplasia, Hypoplasia of the brainstem, Po... ORPHA:250972
Adult Krabbe Disease
Abnormal midbrain morphology, Abnormal pons morphology, Abnormality of the medulla oblongata, Abn... ORPHA:206448
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypertrophic cardiomyopathy, Interrupted aortic arch, Hypospadias, Ethylmalonic aciduria, Methylm... ORPHA:17
Waardenburg Syndrome
Myelomeningocele ORPHA:3440
Hypertelorism And Tetralogy Of Fallot
Hypospadias, Patent ductus arteriosus, Tetralogy of Fallot, Tetralogy of Fallot with absent pulmo... OMIM:239711
Charge Syndrome
Dandy-Walker malformation, Horseshoe kidney, Hydronephrosis, Intrauterine growth retardation, Sho... ORPHA:138
Intellectual Developmental Disorder, Autosomal Dominant 65
Agenesis of corpus callosum, Micrognathia, Dysgenesis of the hippocampus, Noncommunicating hydroc... OMIM:619320
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Lacticaciduria, Abnormal heart morphology, Glutaric aciduria, Cardiomyopat... ORPHA:26791
Sacral Defect With Anterior Meningocele
Meningocele, Urinary retention, Neurogenic bladder OMIM:600145
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Atrial septal defect, Renal tubular dysfunction, Patent ductus art... OMIM:614886
Autosomal Dominant Non-Syndromic Intellectual Disability
Cerebral atrophy, Short stature, Leukoencephalopathy, Abnormal cerebral white matter morphology, ... ORPHA:178469
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Chiari malformation, Malar flattening, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Hypop... ORPHA:93262
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Lissencephaly, Progressive microcephaly, Hypoplasia of the brainstem, Hydrocephalus, Agyria, Cere... OMIM:615249
Aortic Valve Disease 3
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Aortic root aneurysm OMIM:618496
Pai Syndrome
Encephalocele, Aplasia/Hypoplasia of the corpus callosum ORPHA:1993
Peroxisome Biogenesis Disorder 2A (Zellweger)
Abnormal heart morphology, Polycystic kidney dysplasia, Aminoaciduria OMIM:214110
Genitopalatocardiac Syndrome
Hypospadias, Micrognathia, Abnormality of the gallbladder, Intrauterine growth retardation, Multi... ORPHA:2075
Isolated Polycystic Liver Disease
Vascular dilatation, Multiple renal cysts ORPHA:2924
Proboscis Lateralis
Abnormality of ethmoid bone, Aplasia/Hypoplasia of the maxilla, Holoprosencephaly, Optic nerve hy... ORPHA:141099
Waardenburg Syndrome, Type 1
Mandibular prognathia, Spina bifida, Myelomeningocele OMIM:193500
Oeis Complex
Hydronephrosis, Renal agenesis, Myelomeningocele, Vesicovaginal fistula, Pelvic kidney, Duplicate... OMIM:258040
Birt-Hogg-Dube Syndrome
Renal cell carcinoma, Renal cyst, Large intestinal polyposis, Renal neoplasm, Colon cancer OMIM:135150
Microphthalmia, Syndromic 9
Horseshoe kidney, Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Renal m... OMIM:601186
Trisomy 1Q
Hydronephrosis, Congenital megaureter, Ventriculomegaly, Multicystic kidney dysplasia, Macrocepha... ORPHA:261344
Perlman Syndrome
Interrupted aortic arch, Nephrogenic rest, Nephroblastomatosis, Renal hamartoma, Nephroblastoma OMIM:267000
Neu-Laxova Syndrome
Abnormal cortical gyration, Dandy-Walker malformation, Micrognathia, Intrauterine growth retardat... ORPHA:2671
Mosaic Trisomy 9
Dandy-Walker malformation, Horseshoe kidney, Micrognathia, Hydronephrosis, Intrauterine growth re... ORPHA:99776
Greig Cephalopolysyndactyly Syndrome
Agenesis of corpus callosum, Macrocephaly, Hydrocephalus, Umbilical hernia ORPHA:380
Phelan-Mcdermid Syndrome
Ventricular septal defect, Patent ductus arteriosus, Polycystic kidney dysplasia, Vesicoureteral ... OMIM:606232
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft palate, Hamartoma of tongue, Renal dysplasia, Intestinal malrotation, Anal atresia, Bifid t... OMIM:613091
Syndromic Diarrhea
Bicuspid aortic valve, Ventricular septal defect, Renal hypoplasia, Peripheral pulmonary artery s... ORPHA:84064
Monosomy 13Q14
Micrognathia, Intrauterine growth retardation, Short stature, Holoprosencephaly, Hypoplasia of th... ORPHA:1587
Joubert Syndrome 37
Hepatomegaly, Hydronephrosis, Short stature, Cerebellar vermis hypoplasia, Micropenis, Molar toot... OMIM:619185
Congenital Total Pulmonary Venous Return Anomaly
Dextrocardia, Ventricular septal defect, Mixed total anomalous pulmonary venous connection, Mitra... ORPHA:99125
Atrial Septal Defect 1
Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Persistent left super... OMIM:108800
Parietal Foramina 2
Encephalocele OMIM:609597
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Hepatic fibrosis, Short stature, Nephronophthisis, Renal dysplasia, Renal cyst, Sta... OMIM:266920
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Situs inversus totalis, Nephronophthisis, Stage 5 chronic k... OMIM:602088
Holoprosencephaly 13, X-Linked
Micrognathia, Septo-optic dysplasia, Colpocephaly, Optic nerve hypoplasia, Alobar holoprosencepha... OMIM:301043
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Corticospinal tract hypoplasia, Absent septum pellucidum, Macrocephaly, Hydrocephalus, Agenesis o... OMIM:307000
Parietal Foramina 3
Encephalocele OMIM:609566
Digeorge Syndrome
Interrupted aortic arch, Ventricular septal defect, Hydronephrosis, Truncus arteriosus, Renal dys... OMIM:188400
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hydronephrosis, Abnormal heart morphology, Renal dysplasia, Polycystic kidney dysplasia, Unilater... ORPHA:2237
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, Double outlet right vent... ORPHA:371428
Scalp Defects-Postaxial Polydactyly Syndrome
Encephalocele ORPHA:1003
Spinocerebellar Ataxia 1
Spinocerebellar atrophy, Urinary bladder sphincter dysfunction, Dilated fourth ventricle, Dorsal ... OMIM:164400
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Growth delay, Short stature, Renal cyst, Cerebral atrophy, Micr... OMIM:615583
Ring Chromosome 7 Syndrome
Hypospadias, Severe intrauterine growth retardation, Short stature, Holoprosencephaly, Mandibular... ORPHA:1449
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Micrognathia, Dysplastic corpus callosum, Neonatal death, Micropenis, Cerebellar hy... OMIM:618810
Meckel Syndrome, Type 7
Pancreatic cysts, Right ventricular hypertrophy, Situs inversus totalis, Multiple glomerular cyst... OMIM:267010
Dk Phocomelia Syndrome
Encephalocele OMIM:223340
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Hepatic cysts, Renal cyst OMIM:263630
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Dandy-Walker malformation, Micrognathia, Tubulointerstitial nephritis, Short stature, Abnormality... ORPHA:459061
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Growth delay, Short stature, Ventriculomegaly, Pachygyria, Unila... ORPHA:2512
Parietal Foramina 1
Encephalocele OMIM:168500
Combined Oxidative Phosphorylation Deficiency 11