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Gene: Tmem67 MGI:1923928

Gene Summary

Name:

transmembrane protein 67

Synonyms:

b2b1163.1Clo, b2b1291.1Clo, 5330408M12Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
increased grip strength	Tmem67^em1(IMPC)J	HET	Early adult	6.76×10^-05
increased exploration in new environment	Tmem67^em1(IMPC)J	HET	Early adult	2.74×10^-05
preweaning lethality, complete penetrance	Tmem67^em1(IMPC)J	HOM	Early adult	0.00

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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 Forepaw

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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Electroretinography 3

Fundus file

8 Images

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Gross Morphology Embryo E9.5

Images

2 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Electrocardiogram (ECG)

Waveform Image

15 Images

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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.

Human diseases associated with Tmem67 (11 diseases)
Human diseases predicted to be associated with Tmem67 (998 diseases)

The table below shows human diseases associated to Tmem67 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Hepatomegaly, Cerebellar vermis hypoplasia, Elevated hepa...	OMIM:216360
Meckel Syndrome, Type 3	Occipital encephalocele, Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ...	OMIM:607361
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Occipital encephalocele, Hepatomegaly, Cerebellar vermis hypoplasi...	ORPHA:1454
Joubert Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Aplasia/Hypoplasia of the corpus call...	ORPHA:475
Meckel Syndrome	Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, Microcephaly, Micrognathia, Cr...	ORPHA:564
Joubert Syndrome 6	Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Stage 5...	OMIM:610688
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla...	ORPHA:84081
Bardet-Biedl Syndrome 14	Renal insufficiency	OMIM:615991
Rhyns Syndrome	Renal insufficiency, Chronic kidney disease, Nephronophthisis	OMIM:602152

The table below shows human diseases predicted to be associated to Tmem67 by phenotypic similarity.

Disease	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, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis...	OMIM:615382
Genitopalatocardiac Syndrome	Ventricular septal defect, Hypospadias, Renal cyst, Right aortic arch, Transposition of the great...	OMIM:231060
Lissencephaly 5	Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Porencephalic cyst, Subcort...	OMIM:615191
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl...	OMIM:616749
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Heterotaxy	OMIM:601086
Meckel Syndrome, Type 4	Encephalocele, Agenesis of cerebellar vermis, Microcephaly, Hydrocephalus, Meningocele, Anencepha...	OMIM:611134
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Abnormal cerebral white matter mor...	ORPHA:352682
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy...	OMIM:604213
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp...	ORPHA:860
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Mandibular prognathia, Short stature, Microcephaly, Micrognathia, Hydrocephalus, M...	ORPHA:1908
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel...	ORPHA:1528
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Dandy-Walker Syndrome	Dilated fourth ventricle, Agenesis of cerebellar vermis, Posterior fossa cyst at the fourth ventr...	OMIM:220200
Frontal Encephalocele	Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor...	ORPHA:1931
Lissencephaly 8	Occipital encephalocele, Ventriculomegaly, Microcephaly, Retrocerebellar cyst, Hypoplasia of the ...	OMIM:617255
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Joubert Syndrome 14	Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Mening...	OMIM:614424
Pallister-Hall-Like Syndrome	Occipital encephalocele, Death in infancy, Short stature, Microcephaly, Micrognathia, Hydrocephal...	OMIM:241800
Joubert Syndrome 18	Occipital encephalocele, Agenesis of cerebellar vermis, Renal cyst, Horseshoe kidney, Intrahepati...	OMIM:614815
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ...	ORPHA:101030
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Macrocephaly at birth, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Cerebellar malfo...	ORPHA:324416
Heterotaxy, Visceral, 12, Autosomal	Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa...	OMIM:619702
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t...	OMIM:618845
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Absent hippocampal...	OMIM:617542
Meckel Syndrome 13	Occipital encephalocele, Micrognathia, Cerebellar hypoplasia, Polycystic kidney dysplasia, Molar ...	OMIM:617562
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Isolated Dandy-Walker Malformation	Encephalocele, Dandy-Walker malformation, Aplasia/Hypoplasia of the corpus callosum	ORPHA:217
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Molar tooth sign on MRI, Dil...	ORPHA:397715
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Ventricu...	ORPHA:370959
Septopreoptic Holoprosencephaly	Abnormal midbrain morphology, Megalencephaly, Hypoplasia of the pons, Microcephaly, Perisylvian p...	ORPHA:280195
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect, Type II lissencephaly, Cerebellar dysplasia	OMIM:615041
Meckel Syndrome, Type 10	Dilated fourth ventricle, Occipital encephalocele, Hypospadias, Malformation of the hepatic ducta...	OMIM:614175
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
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Joubert Syndrome 16	Encephalocele, Renal cyst, Nephronophthisis, Molar tooth sign on MRI, Dandy-Walker malformation	OMIM:614465
Triploidy	Hepatomegaly, Hypoplasia of penis, Hypospadias, Micrognathia, Cryptorchidism, Hydrocephalus, Meni...	ORPHA:3376
Neurocutaneous Melanocytosis	Death in infancy, Renal hypoplasia/aplasia, Meningocele, Chiari malformation, Aplasia/Hypoplasia ...	ORPHA:2481
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, H...	OMIM:617967
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Muscle-Eye-Brain Disease	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Meckel Syndrome, Type 2	Encephalocele, Meningocele, Anencephaly, Renal cyst, Bile duct proliferation, Intrauterine growth...	OMIM:603194
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Absent septum pellucidum, Frontal encephalocele, Lissencephaly, Cerebella...	OMIM:218670
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Hydranencephaly, Microcephaly, Micrognathia, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the ...	ORPHA:2570
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s...	ORPHA:1209
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Renal ...	OMIM:617478
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Chiari malformation, Frontal encephalocele	ORPHA:261102
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Mitral valve prolapse, Polycystic kidney dysplasia, Cerebral ...	OMIM:173900
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Focal polymicrogyria, Partial agenesis of...	OMIM:615771
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Microretrognathia, Cerebellar vermis hypoplasia, Agyria, Optic nerve hy...	ORPHA:171680
Acalvaria	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Oculocerebrocutaneous Syndrome	Cryptorchidism, Orbital encephalocele, Hypoplasia of the corpus callosum, Agenesis of corpus call...	OMIM:164180
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Chiari malformation, Agenesis...	OMIM:207950
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Joubert Syndrome 7	Encephalocele, Brainstem dysplasia, Stage 5 chronic kidney disease, Renal cyst, Hypoplasia of the...	OMIM:611560
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Acromelic Frontonasal Dysplasia	Encephalocele, Cryptorchidism, Meningocele, Choroid plexus cyst, Hypoplasia of the olfactory bulb...	ORPHA:1827
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corpus callosum, Simplified g...	ORPHA:300570
22Q11.2 Duplication Syndrome	Ventricular septal defect, Urethral stenosis, Hypoplastic left heart, Transposition of the great ...	ORPHA:1727
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Death in infancy, Ventriculomegaly, Agyria, Optic nerve hypoplasia, Type II lissen...	OMIM:614643
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Short stature, Congenital hepatic fibrosis, Meningocele, Renal cyst...	ORPHA:2031
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ...	OMIM:609637
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Isolated Hemihyperplasia	Cryptorchidism, Myelomeningocele, Nephroblastoma	ORPHA:2128
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri...	ORPHA:1330
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Hepatomegaly, Cerebellar vermis hypoplasia, Elevated hepa...	OMIM:216360
Neural Tube Defects, Susceptibility To	Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta	OMIM:182940
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Microretrognathia, Agenesis of cerebellar vermis, Posterior fossa cyst ...	OMIM:220220
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypospadias, Microcephaly, Hypoplasia of ...	OMIM:617751
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Cerebellar dysplasia, Ventriculomegaly, Death in infancy, Microcephaly, Partial ab...	OMIM:613150
Distal Deletion 13Q	Encephalocele, Short stature, Microcephaly, Renal hypoplasia/aplasia, Anencephaly, Aplasia/Hypopl...	ORPHA:1590
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Renal insufficiency, Agenesis of cerebellar verm...	OMIM:608091
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Joubert Syndrome 9	Encephalocele, Stage 5 chronic kidney disease, Hepatic fibrosis, Molar tooth sign on MRI, Ventric...	OMIM:612285
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Microhydranencephaly, X-Linked	Intrauterine growth retardation, Holoprosencephaly, Microcephaly	OMIM:306990
Hartsfield Syndrome	Encephalocele, Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus callosum, Lobar ...	ORPHA:2117
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Joubert Syndrome With Renal Defect	Encephalocele, Renal insufficiency, Cerebellar vermis hypoplasia, Hydrocephalus, Biparietal narro...	ORPHA:220497
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Absent Eyebrows And Eyelashes With Mental Retardation	Encephalocele, Microcephaly	OMIM:200130
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Microcephaly, Polycystic kidney dysplasia, Hyperechogenic...	OMIM:613885
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Thanatophoric Dysplasia Type 2	Encephalocele, Short stature, Abnormality of the kidney, Hydrocephalus, Holoprosencephaly, Macroc...	ORPHA:93274
Pseudoprogeria Syndrome	Short stature, Microcephaly, Spinal arachnoid cyst, Growth delay, Cranium bifidum occultum	ORPHA:2985
Humero-Radial Synostosis	Meningocele, Microcephaly	ORPHA:3265
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Leber Congenital Amaurosis	Encephalocele, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:65
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr...	ORPHA:1909
Lathosterolosis	Hepatomegaly, Hypoplasia of penis, Cerebral calcification, Microcephaly, Micrognathia, Intrahepat...	ORPHA:46059
Hemihyperplasia, Isolated	Myelomeningocele, Nephroblastoma	OMIM:235000
Frontonasal Dysplasia 1	Pericallosal lipoma, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Anterior basal encep...	OMIM:136760
Oculoauriculofrontonasal Syndrome	Encephalocele, Pericallosal lipoma, Micrognathia, Microcephaly, Macrocephaly	ORPHA:398156
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Hydranencephaly, Renal hypoplasia, Renal cyst, Ureteral agenesis, Hypoplasia o...	OMIM:236500
Myelopathy, Htlv-1-Associated	Myelopathy	OMIM:159580
Lissencephaly 9 With Complex Brainstem Malformation	Cerebellar vermis hypoplasia, Short stature, Microcephaly, Hypoplasia of the pons, Dysgenesis of ...	OMIM:618325
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Joubert Syndrome With Oculorenal Defect	Encephalocele, Renal insufficiency, Cerebellar vermis hypoplasia, Hydrocephalus, Aplasia/Hypoplas...	ORPHA:2318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Micrognathia, Hypoplasia of the brainstem, Pachygyria, Agenesis of corpu...	OMIM:236670
Autosomal Recessive Spondylocostal Dysostosis	Hypospadias, Short stature, Microcephaly, Cryptorchidism, Meningocele, Abnormality of the ureter,...	ORPHA:2311
Cerebrocostomandibular Syndrome	Death in infancy, Multicystic kidney dysplasia, Cerebral calcification, Short stature, Spina bifi...	ORPHA:1393
Arima Syndrome	Cerebellar vermis hypoplasia, Brainstem dysplasia, Hypoplasia of the brainstem, Hepatic fibrosis,...	OMIM:243910
Developmental Delay, Language Impairment, And Ocular Abnormalities	Myelomeningocele, Short stature, Hydronephrosis, Microcephaly	OMIM:620141
Meckel Syndrome, Type 9	Occipital encephalocele, Multicystic kidney dysplasia	OMIM:614209
Cocaine Embryofetopathy	Encephalocele, Abnormality of the urinary system	ORPHA:1911
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Situs inversus totalis, Stage 5 chronic ...	OMIM:613095
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Agenesis of cerebellar vermis, Cryptorchidism, Intrauterine growth retardation, Ag...	ORPHA:228390
Diaphanospondylodysostosis	Myelomeningocele, Multiple renal cysts	ORPHA:66637
Joubert Syndrome 1	Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Br...	OMIM:213300
Renal Tubular Dysgenesis	Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis	ORPHA:3033
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome	Cerebral cortical atrophy, Holoprosencephaly, Microcephaly	ORPHA:2523
Meckel Syndrome, Type 3	Occipital encephalocele, Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ...	OMIM:607361
Lateral Meningocele Syndrome	Neurogenic bladder, Short stature, Micrognathia, Cryptorchidism, Hydrocephalus, Meningocele, Dura...	OMIM:130720
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Hypoplasia of the brains...	OMIM:253800
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Hypoplasia...	OMIM:616546
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve...	OMIM:615287
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Schisis Association	Encephalocele, Renal agenesis, Spina bifida, Microcephaly, Anencephaly	ORPHA:63862
Vitamin K Antagonist Embryofetopathy	Intrauterine growth retardation, Myelomeningocele, Hydrocephalus	ORPHA:1914
Ciliary Dyskinesia, Primary, 40	Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ...	OMIM:618300
15Q24 Microdeletion Syndrome	Hypospadias, Short stature, Microcephaly, Postnatal growth retardation, Cryptorchidism, Myelomeni...	ORPHA:94065
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Severe short stature, Micrognathia, Microcephaly, Cryptorchidism, Dispro...	OMIM:224410
Joubert Syndrome With Ocular Defect	Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Biparietal narrowing, Molar tooth sig...	ORPHA:220493
Parietal Foramina 2	Encephalocele	OMIM:609597
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Enuresis, Chiari malformati...	ORPHA:268810
Pseudotrisomy 13 Syndrome	Encephalocele, Renal agenesis, Microcephaly, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Hol...	OMIM:264480
Caudal Duplication	Abnormal penis morphology, Ureteral duplication, Spina bifida, Renal hypoplasia/aplasia, Cryptorc...	ORPHA:1756
Parietal Foramina 3	Encephalocele	OMIM:609566
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta	ORPHA:228190
Parietal Foramina 1	Encephalocele, Macrocephaly	OMIM:168500
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Meningocele	ORPHA:1759
Scalp Defects-Postaxial Polydactyly Syndrome	Encephalocele	ORPHA:1003
Vissers-Bodmer Syndrome	Intrauterine growth retardation, Decreased head circumference, Holoprosencephaly, Short stature	OMIM:619033
Distal Monosomy 7Q36	Hypoplasia of penis, Short stature, Micrognathia, Microcephaly, Cryptorchidism, Holoprosencephaly	ORPHA:1636
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Micrognathia, Cryptorchidism, Meningocele, Dural ectasia, Chiari malfo...	ORPHA:2789
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Occipital encephalocele, Hepatomegaly, Cerebellar vermis hypoplasi...	ORPHA:1454
Dk Phocomelia Syndrome	Encephalocele	OMIM:223340
Congenital Vertical Talus	Myelomeningocele	ORPHA:178382
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Short stature, Renal agenesis, Micrognathia, Porencephalic cyst, Ar...	OMIM:277170
Tetralogy Of Fallot	Tetralogy of Fallot	OMIM:187500
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Abdom...	OMIM:605376
Curry-Jones Syndrome	Megalencephaly, Lipomyelomeningocele, Hemimegalencephaly, Chiari type I malformation, Occipital m...	OMIM:601707
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Wildervanck Syndrome	Meningocele	ORPHA:3456
Whim Syndrome 2	Tetralogy of Fallot	OMIM:619407
Peroxisome Biogenesis Disorder 3A (Zellweger)	Vascular dilatation, Polycystic kidney dysplasia	OMIM:614859
Chromosome 3Q13.31 Deletion Syndrome	Alobar holoprosencephaly, Cryptorchidism, Micropenis, Agenesis of corpus callosum, Decreased test...	OMIM:615433
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Relative macrocephaly, Microretrognathia, Natal tooth, Rhizomelia, Cryptorchidism,...	OMIM:616300
Pontocerebellar Hypoplasia, Type 15	Death in infancy, Hydrocephalus, Partial agenesis of the corpus callosum, Simplified gyral patter...	OMIM:619302
Orofaciodigital Syndrome I	Porencephalic cyst, Hepatic fibrosis, Agenesis of corpus callosum, Microretrognathia, Short statu...	OMIM:311200
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Intrauterine growth retardation, Frontal encephalocele, Agenesis of corpus callosum	ORPHA:521308
Ossification Of The Posterior Longitudinal Ligament Of Spine	Myelopathy	OMIM:602475
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Delayed eruption of teeth, Hypospadias, Short stature, Microcephaly, Micrognathia,...	OMIM:619148
Testicular Anomalies With Or Without Congenital Heart Disease	Corpus cavernosum hypoplasia, Tetralogy of Fallot, Microphallus, Perineal hypospadias	OMIM:615542
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of penis, Hypospadias, Hypoplasia of the premaxilla, Microcephaly, Micr...	ORPHA:2166
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Urinary incontinence, Posterior fossa cyst at th...	ORPHA:2356
Joubert Syndrome 15	Molar tooth sign on MRI, Micropenis, Exencephaly, Nephronophthisis	OMIM:614464
Intellectual Developmental Disorder, Autosomal Recessive 68	Cerebellar atrophy, Microcephaly, Hypoplasia of the maxilla, Hydrocephalus, Periventricular leuko...	OMIM:618302
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Hydrolethalus Syndrome 2	Micrognathia, Hydrocephalus, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum, V...	OMIM:614120
Coach Syndrome 2	Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Congenital hepatic fibrosis, Hydroce...	OMIM:619111
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Microcephaly, Hypoplasia of the pons, Dysplastic corpus callosum, Global brai...	OMIM:618276
Double Outlet Right Ventricle	Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Heterotaxy, Hypop...	ORPHA:3426
Czeizel-Losonci Syndrome	Spina bifida, Micrognathia, Myelomeningocele, Hydrocephalus, Ureteral agenesis, Congenital megaur...	ORPHA:2437
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp...	ORPHA:2182
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Right atrial isomerism, Ureteral stenosis, Ventricular septal defect, Dextr...	OMIM:270100
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Absence of renal corticomedullary differentiation, Hematemesis, Pancreatic c...	OMIM:263200
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part...	OMIM:619657
Band Heterotopia	Hypoplastic hippocampus, Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatatio...	OMIM:600348
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism, Holoprosencephaly, Macrocephaly	OMIM:300706
Enlarged Parietal Foramina	Occipital encephalocele, Myelomeningocele, Encephalomalacia	ORPHA:60015
Joubert Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Aplasia/Hypoplasia of the corpus call...	ORPHA:475
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis...	OMIM:610205
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Severe short stature, Miscarriage, Micrognathia, Microcephaly, Cryptorchidism, Hyd...	ORPHA:1865
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cerebellar dysplasia, Ventriculomegaly, Agenesis of cerebellar vermis, Type II lissencephaly, Hyp...	OMIM:613153
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Ring Chromosome 21 Syndrome	Azoospermia, Short stature, Holoprosencephaly, Microcephaly	ORPHA:1445
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Hypospadias, Double outlet right ventricle, Hypoplastic left heart, Pu...	OMIM:220210
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Decreased head circumferen...	ORPHA:500166
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormality of the anterior commissure, Neurogenic bladder, Optic nerve hypoplasia, Abnormal hipp...	ORPHA:572013
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Scimitar Syndrome	Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa...	ORPHA:185
Holoprosencephaly 11	Agenesis of corpus callosum, Holoprosencephaly, Microcephaly	OMIM:614226
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Microphallus, Abnormal peri...	ORPHA:468631
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta	OMIM:604381
Waardenburg Syndrome Type 1	Mandibular prognathia, Meningocele, Spina bifida	ORPHA:894
Iniencephaly	Encephalocele, Rhizomelia, Renal agenesis, Spina bifida, Myelomeningocele, Hydrocephalus, Anencep...	ORPHA:63259
Thomas Syndrome	Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia	ORPHA:3316
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Duplication Of The Pituitary Gland	Encephalocele, Short stature, Abnormal midbrain morphology, Microcephaly, Supernumerary tooth, Ab...	ORPHA:314621
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Tricuspid stenosis, Abnormality of the kidney, Patent ductu...	ORPHA:391641
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Absent septum pellucidum, Holoprosencephaly, Anterior encephalocele	OMIM:601357
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal aortic morphology, Multiple renal c...	ORPHA:1166
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren...	OMIM:145001
Pagod Syndrome	Encephalocele, Death in infancy, Multicystic kidney dysplasia, Short stature, Spina bifida, Micro...	ORPHA:991
Meckel Syndrome, Type 1	Occipital encephalocele, Micrognathia, Molar tooth sign on MRI, Agenesis of corpus callosum, Dand...	OMIM:249000
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Patent foramen ova...	OMIM:600001
Spondylocostal Dysostosis 4, Autosomal Recessive	Neurogenic bladder, Short stature, Myelomeningocele, Hydrocephalus, Chiari type II malformation, ...	OMIM:613686
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cerebellar edema, Cerebral white matter atrophy, Ventriculomegaly, Myelopathy, Cerebral edema, Le...	OMIM:617186
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Renal cyst, Colpocephaly, Decreased liver function, Neonatal death, Pachygyria	OMIM:614870
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou...	OMIM:179613
Griscelli Syndrome	Encephalocele, Hepatomegaly, Short stature, Hydrocephalus, Jaundice, Hepatitis	ORPHA:381
Holoprosencephaly 7	Hypoplasia of the premaxilla, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Partial agen...	OMIM:610828
Meckel Syndrome, Type 6	Occipital encephalocele, Absent gallbladder, Hydrocephalus, Anencephaly, Renal cyst, Horseshoe ki...	OMIM:612284
Distal Triplication 15Q	Abnormality of the kidney, Patent ductus arteriosus, Hypoplastic aortic arch, Dilatation of the r...	ORPHA:314588
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri...	OMIM:618280
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Thick cerebral cortex, Cerebellar vermis hypoplasia, Postnatal growth r...	ORPHA:357058
Meckel Syndrome, Type 5	Occipital encephalocele, Bile duct proliferation, Anencephaly, Renal cyst	OMIM:611561
Exostoses, Multiple, Type Ii	Cervical myelopathy, Short stature	OMIM:133701
Exostoses, Multiple, Type I	Cervical myelopathy, Short stature	OMIM:133700
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Hypoplasia of penis, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus ...	ORPHA:990
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Atrioventricular canal defec...	OMIM:265380
Vacterl/Vater Association	Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal ag...	ORPHA:887
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Abnormal cerebral white matter morphology, Lateral ventricle dilatation...	OMIM:613443
Cerebrooculonasal Syndrome	Encephalocele, Ventriculomegaly, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Postnatal ...	OMIM:605627
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Dilated fourth ventricle, Short stature, Retrocerebellar cyst, Inferior cereb...	OMIM:614831
Frontonasal Dysplasia 2	Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Microcephaly, Bilater...	OMIM:613451
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Microcephaly, Micrognathia, Severe postnatal growth retardation, Latera...	ORPHA:3078
Masa Syndrome	Short stature, Microcephaly, Hydrocephalus, Macrocephaly, Agenesis of corpus callosum, Ventriculo...	OMIM:303350
Acromelic Frontonasal Dysostosis	Encephalocele, Tubulonodular pericallosal lipoma, Optic nerve hypoplasia, Cryptorchidism, Choroid...	OMIM:603671
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Rhizomelia, Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Meckel Syndrome	Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, Microcephaly, Micrognathia, Cr...	ORPHA:564
Frontorhiny	Encephalocele, Pericallosal lipoma, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Aplas...	ORPHA:391474
Knobloch Syndrome 1	Cerebellar atrophy, Occipital encephalocele, Duplicated collecting system, Absent septum pellucid...	OMIM:267750
Otopalatodigital Syndrome Type 2	Encephalocele, Hypospadias, Micrognathia, Hydrocephalus, Myelomeningocele, Hypoplastic frontal si...	ORPHA:90652
Gómez-López-Hernández Syndrome	Cerebellar vermis hypoplasia, Short stature, Abnormal cerebellum morphology, Hydrocephalus, Abnor...	ORPHA:1532
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Short stature, Cerebellar hypoplasia, Cerebellar vermis atrophy	OMIM:213200
Pai Syndrome	Encephalocele, Aplasia/Hypoplasia of the corpus callosum	ORPHA:1993
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Death in infancy, Ectopic kidney, Cryptorchidism, Secondary microcephaly, Cerebella...	OMIM:613730
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Micrognathia...	OMIM:620157
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Severe short stature, Micrognathia, Hydrocephalus, Malar flattening, Neonatal shor...	OMIM:224400
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho...	ORPHA:99050
Orofaciodigital Syndrome Xiv	Microretrognathia, Occipital encephalocele, Natal tooth, Cerebellar vermis hypoplasia, Microcepha...	OMIM:615948
Frontofacionasal Dysplasia	Encephalocele, Short stature, Hypoplasia of olfactory tract, Hypoplasia of the corpus callosum	ORPHA:1791
Holoprosencephaly 14	Cerebellar atrophy, Ventriculomegaly, Absent septum pellucidum, Alobar holoprosencephaly, Aqueduc...	OMIM:619895
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Abnormal periventri...	OMIM:615960
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia	OMIM:615993
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Microhydranencephaly	Short stature, Microcephaly, Growth delay, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hy...	OMIM:605013
Congenital Disorder Of Glycosylation, Type Il	Pericardial effusion, Abnormal cardiac septum morphology, Polycystic kidney dysplasia	OMIM:608776
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Caudate atrophy, Cerebellar vermis hypoplasia, Ventriculomegaly, Optic ...	OMIM:615574
Adams-Oliver Syndrome	Encephalocele, Portal hypertension, Congenital hepatic fibrosis, Hydrocephalus, Porencephalic cys...	ORPHA:974
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele	OMIM:614416
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Renal dysplasia, Short sta...	ORPHA:96264
Endocrine-Cerebroosteodysplasia	Natal tooth, Hypospadias, Absent septum pellucidum, Focal polymicrogyria, Micrognathia, Cryptorch...	OMIM:612651
Familial Aortic Dissection	Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis...	ORPHA:229
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Renal cyst, Hypoplasia of the brainstem, Hypoplasia of th...	OMIM:615636
Joubert Syndrome 13	Pachygyria, Cerebellar vermis hypoplasia, Molar tooth sign on MRI	OMIM:614173
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Growth delay, Holoprosencephaly,...	ORPHA:77298
Chromosome 1Q41-Q42 Deletion Syndrome	Short stature, Microcephaly, Cryptorchidism, Holoprosencephaly, Cerebellar hypoplasia, Ventriculo...	OMIM:612530
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Microcephaly, Micrognathia, Hydrocephalus, Hypoplasia of the brainstem, Cerebel...	OMIM:225790
Trisomy 18	Microretrognathia, Short stature, Spina bifida, Microcephaly, Abnormality of the upper urinary tr...	ORPHA:3380
Slc35A2-Cdg	Cerebellar atrophy, Elevated hepatic transaminase, Cerebral white matter atrophy, Hypoplastic hip...	ORPHA:356961
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Ureteral...	OMIM:208540
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Pulmonic stenosis	ORPHA:251076
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Abnormal ...	ORPHA:370022
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Hypospadias, Renal agenesis, Hydrocephalus, Anencephaly, Renal...	ORPHA:1335
Velocardiofacial Syndrome	Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Tetralogy of Fallot...	OMIM:192430
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Zaki Syndrome	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Short stature, Renal agenesis, Microcepha...	OMIM:619648
Monosomy 18P	Short stature, Micrognathia, Carious teeth, Microcephaly, Holoprosencephaly	ORPHA:1598
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle...	ORPHA:3304
Microphthalmia, Isolated, With Coloboma 5	Holoprosencephaly	OMIM:611638
Holoprosencephaly	Encephalocele, Hypoplasia of penis, Proteinuria, Microcephaly, Cryptorchidism, Hydrocephalus, Spi...	ORPHA:2162
Trisomy 17P	Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Urethral stenosis, Hypoplastic lef...	ORPHA:261290
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi...	OMIM:132900
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Urethral atresia, Isomerism, Transposition of the great arteries, Atrioventricular ...	OMIM:314390
Heart And Brain Malformation Syndrome	Ventricular septal defect, Interrupted aortic arch	OMIM:616920
Joubert Syndrome 39	Molar tooth sign on MRI, Occipital encephalocele, Cerebellar vermis hypoplasia, Polycystic kidney...	OMIM:619562
Lathosterolosis	Elevated hepatic transaminase, Bilobate gallbladder, Microcephaly, Micrognathia, Intrahepatic cho...	OMIM:607330
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Multicystic kidney dysplasia, Hypospadias, Short stature, Nephroblastoma, Hypod...	OMIM:257300
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Patent foramen ova...	ORPHA:2255
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Short stature, Cerebellar...	ORPHA:1170
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Natal tooth, Hydrocephalus, Anencephaly, Renal hypoplasia, Periportal fibrosis, Hol...	OMIM:269860
Renpenning Syndrome	Hypospadias, High, narrow palate, Cleft palate, Heterotaxy, Anal atresia	ORPHA:3242
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Short stature, Cerebral atrophy, Hypoplasia of the corpus callosum, Macrocephaly, Molar tooth sig...	ORPHA:166024
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s...	ORPHA:573278
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebellar atrophy, Short stature, Leukoencephalopathy, Cerebral atrophy, Growth delay, Cervical ...	OMIM:619260
Lambotte Syndrome	Intrauterine growth retardation, Microcephaly, Retrognathia, Semilobar holoprosencephaly	OMIM:245552
Corpus Callosum, Partial Agenesis Of, X-Linked	Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Hypo...	OMIM:304100
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal renal morphology, Ab...	ORPHA:477817
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Joubert Syndrome 5	Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm...	OMIM:610188
Sacral Defect With Anterior Meningocele	Myeloschisis, Neurogenic bladder, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus trac...	OMIM:600145
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Dilated fourth ventricle, Cerebellar vermis atrophy	OMIM:619054
Developmental And Epileptic Encephalopathy 99	Cerebellar atrophy, Hypoplastic hippocampus, Microcephaly, Perisylvian polymicrogyria, Thick corp...	OMIM:619606
Nphp3-Related Meckel-Like Syndrome	Renal dysplasia, Multicystic kidney dysplasia, Intestinal malrotation	ORPHA:3032
Spinocerebellar Ataxia, Autosomal Recessive 33	Dilated fourth ventricle, Simplified gyral pattern, Cerebellar hypoplasia, Microcephaly	OMIM:620208
Amish Lethal Microcephaly	Hepatomegaly, Death in infancy, Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Microgn...	ORPHA:99742
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Agenesis of corpus callosum, Hydronephrosi...	OMIM:617127
Femoral-Facial Syndrome	Renal hypoplasia/aplasia, Long penis, Abnormal localization of kidney, Cleft palate, Polycystic k...	ORPHA:1988
Trisomy 8Q	Hypoplasia of penis, Micrognathia, Cryptorchidism, Myelomeningocele, Displacement of the urethral...	ORPHA:1752
Aortic Aneurysm, Familial Thoracic 7	Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture	OMIM:613780
22Q11.2 Deletion Syndrome	Hypospadias, Abnormal dental enamel morphology, Spina bifida, Microcephaly, Micrognathia, Cryptor...	ORPHA:567
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Ventricular septal defect, Hypospadias, Parachute mitral valve, Patent ductus arteriosus, Atrial ...	OMIM:618316
Branchiootorenal Syndrome 1	Renal dysplasia, Renal malrotation, Intestinal malrotation, Unilateral renal agenesis, Renal stea...	OMIM:113650
Mirror Movements 3	Situs inversus totalis	OMIM:616059
Joubert Syndrome 6	Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Stage 5...	OMIM:610688
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl...	ORPHA:480536
Agnathia-Otocephaly Complex	Mandibular aplasia, Agenesis of corpus callosum, Holoprosencephaly, Micrognathia	OMIM:202650
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Gillessen-Kaesbach-Nishimura Syndrome	Polycystic kidney dysplasia, Abnormal heart morphology	OMIM:263210
Congenital Heart Defects, Multiple Types, 3	Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor...	OMIM:614954
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Abnormal penis morphology, Hypospadias, Abnormal cortical gyration, Pachygyria, Ep...	ORPHA:2211
Ciliary Dyskinesia, Primary, 14	Situs inversus totalis, Heterotaxy	OMIM:613807
Halperin-Birk Syndrome	Micrognathia, Colpocephaly, Death in childhood, Umbilical hernia, Intrauterine growth retardation...	OMIM:618651
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele	ORPHA:2003
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dys...	ORPHA:300573
Phaver Syndrome	Intrauterine growth retardation, Myelomeningocele	ORPHA:2876
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ...	OMIM:620317
16P13.11 Microdeletion Syndrome	Short stature, Microcephaly, Cryptorchidism, Holoprosencephaly, Agenesis of corpus callosum, Vent...	ORPHA:261236
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
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla...	OMIM:619902
Phenobarbital Embryopathy	Abnormal mitral valve morphology, Tetralogy of Fallot, Hypospadias	ORPHA:1919
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Abnormal cerebellum morphology, Abnormal brainstem morphology, Periventricular cyst...	ORPHA:255182
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis	OMIM:217085
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Right aortic arch, Dextrocardia	OMIM:617577
Smith-Lemli-Opitz Syndrome	Diffuse cerebral atrophy, Micrognathia, Partial agenesis of the corpus callosum, Renal cyst, Chia...	OMIM:270400
Meckel Syndrome 14	Microretrognathia, Occipital encephalocele, Micrognathia, Hepatic fibrosis, Holoprosencephaly, Po...	OMIM:619879
Craniofacial Dyssynostosis With Short Stature	Hypospadias, Short stature, Cryptorchidism, Hydrocephalus, Horseshoe kidney, Chiari type I malfor...	OMIM:218350
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Hypoplastic hippocampus, Reduced amygdala volume, Microcephaly, Partial agenesis of the corpus ca...	OMIM:619517
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Retinal arteriolar tortuosity, Renal cyst, Hematuria, Lacunar stroke, Dilata...	OMIM:611773
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy...	OMIM:600638
Atelosteogenesis, Type I	Encephalocele, Rhizomelia, Micrognathia, Cryptorchidism, Stillbirth, Disproportionate short-limb ...	OMIM:108720
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Hypoplastic hippocampus, Partial agenesis of the corpus callosum, Cerebral atrophy, Agenesis of c...	ORPHA:85179
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Micrognathia, Hydr...	ORPHA:163961
Microform Holoprosencephaly	Hypoplasia of penis, Short stature, Renal agenesis, Microcephaly, Holoprosencephaly, Intrauterine...	ORPHA:280200
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar atrophy, Dilated fourth ventricle, Hepatomegaly, Cerebellar vermis hypoplasia, Elevate...	OMIM:212065
Phocomelia, Schinzel Type	Hypoplasia of penis, Micrognathia, Cryptorchidism, Disproportionate short stature, Meningocele, I...	ORPHA:2879
Genitourinary And/Or Brain Malformation Syndrome	Hypospadias, Absent septum pellucidum, Micrognathia, Cryptorchidism, Dysplastic corpus callosum, ...	OMIM:618820
Pallister-Hall Syndrome	Renal dysplasia, Natal tooth, Hydroureter, Short stature, Distal urethral duplication, Ectopic ki...	OMIM:146510
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Mosaic Variegated Aneuploidy Syndrome	Ventriculomegaly, Multicystic kidney dysplasia, Short stature, Microcephaly, Micrognathia, Aplasi...	ORPHA:1052
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cerebellar vermis hypoplasia, Hypospadias, Short stature, Microcephaly, Hypoplasia of the pons, C...	OMIM:616975
Fetal Encasement Syndrome	Tetralogy of Fallot, Increased urinary 8-oxo-7,8-dihydroguanosine level, Horseshoe kidney	OMIM:613630
Aortic Aneurysm, Familial Thoracic 8	Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor...	OMIM:615436
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Dilated fourth ventricle, Short stature, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the ...	OMIM:300749
1Q21.1 Microdeletion Syndrome	Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic arch, Vesicouret...	ORPHA:250989
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina...	OMIM:618736
Primary Ciliary Dyskinesia	Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Anomalous pulmonary ...	ORPHA:244
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Absent septum pellucidum, Microcephaly, Elevated circulating alanine aminotra...	OMIM:618500
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tubular epitheli...	ORPHA:228308
Craniofacioskeletal Syndrome	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Interrupted aortic arch, Atrial...	OMIM:300712
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Trisomy 1Q	Microretrognathia, Multicystic kidney dysplasia, Cryptorchidism, Hydrocephalus, Congenital megaur...	ORPHA:261344
Igg4-Related Aortitis	Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila...	ORPHA:449400
Pontocerebellar Hypoplasia Type 2	Ventriculomegaly, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Dysplastic corpus cal...	ORPHA:2524
Holoprosencephaly-Caudal Dysgenesis Syndrome	Renal insufficiency, Holoprosencephaly, Microcephaly	ORPHA:2165
Joubert Syndrome 8	Molar tooth sign on MRI, Occipital encephalocele, Prolonged neonatal jaundice, Hepatomegaly	OMIM:612291
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebral atrophy, Leu...	ORPHA:572798
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Red-brown urin...	ORPHA:157
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Car...	OMIM:608836
Ataxia-Telangiectasia-Like Disorder	Cerebellar atrophy, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Short stature	ORPHA:251347
Dural Sinus Malformation	Myelopathy, Abnormal cerebellum morphology, Hydrocephalus, Macrocephaly, Hypoplasia of the fronta...	ORPHA:97339
Alg3-Cdg	Cerebral white matter atrophy, Microcephaly, Hypoplasia of the pons, Neural tube defect, Subcorti...	ORPHA:79321
Verheij Syndrome	Branchial cyst, Short stature, Optic nerve hypoplasia, Renal agenesis, Microcephaly, Renal hypopl...	OMIM:615583
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cyst	OMIM:617100
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Short stature, Hypoplasia of the maxilla, Hydrocephalus, Macrocephaly, Malar flattening, Agenesis...	OMIM:109120
Prune Belly Syndrome	Multicystic kidney dysplasia, Recurrent urinary tract infections, Ventricular septal defect, Rena...	ORPHA:2970
Cloacal Exstrophy	Hypoplasia of penis, Hydroureter, Spina bifida, Ectopic kidney, Renal hypoplasia/aplasia, Myelome...	ORPHA:93929
Isolated Exencephaly	Abnormal facial skeleton morphology, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Age...	ORPHA:563612
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Hypoplasia of the corpus callosum	OMIM:613162
Lumbar Syndrome	Hypospadias, Renal agenesis, Spina bifida, Cryptorchidism, Myelomeningocele, Vesicoureteral reflu...	ORPHA:83628
Aortic Valve Disease 3	Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Meacham Syndrome	Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial...	OMIM:608978
1Q41Q42 Microdeletion Syndrome	Growth delay, Cryptorchidism, Short stature, Holoprosencephaly	ORPHA:250999
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hypospadias, Abnormal renal collecting system morphology, Patent ductus arteriosus, Methylmalonic...	ORPHA:17
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Leukoencepha...	OMIM:615181
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy, Vascular dil...	OMIM:617056
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Cryptorchidism, Myelomeningocele, Hydr...	OMIM:258040
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Ethmoidal encephalocele	OMIM:607597
Stxbp1-Related Encephalopathy	Dysplastic corpus callosum, Cerebral white matter atrophy	ORPHA:599373
Meacham Syndrome	Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total...	ORPHA:3097
Kallmann Syndrome-Heart Disease Syndrome	Renal agenesis, Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardi...	ORPHA:2326
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Short uvula, Renal hypoplasia, Renal cyst, Cleft palate, High palate, Polycystic kid...	OMIM:614091
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Intracranial hemorrhage, Interr...	ORPHA:163979
Maternal Phenylketonuria	Ventricular septal defect, Abnormal renal morphology, Abnormal heart morphology, Coarctation of a...	ORPHA:2209
Axial Mesodermal Dysplasia Spectrum	Short stature, Micrognathia, Renal hypoplasia/aplasia, Hydrocephalus, Abnormality of the ureter, ...	ORPHA:1834
Holoprosencephaly 9	Short stature, Optic nerve hypoplasia, Abnormal cortical gyration, Microcephaly, Hypoplasia of th...	OMIM:610829
Renal-Hepatic-Pancreatic Dysplasia 2	Truncus arteriosus, Situs inversus totalis, Enlarged kidney, Aortic valve stenosis, Pulmonic sten...	OMIM:615415
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Lacticaciduria, Abnormal heart morphology, Cardiomyopathy, 3-Methylglutaric ac...	ORPHA:26791
Combined Oxidative Phosphorylation Defect Type 27	Diffuse cerebral atrophy, Hypoplastic hippocampus, Abnormal cerebral white matter morphology, Hyp...	ORPHA:477774
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Cardiac Valvular Dysplasia 1	Arteria lusoria, Pulmonary artery atresia, Atrial septal defect, Patent foramen ovale, Pulmonic s...	OMIM:212093
Unilateral Ocular Duplication	Encephalocele, Macrocephaly	ORPHA:3374
Limb Body Wall Complex	Encephalocele, Abnormality of the kidney, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph...	ORPHA:2369
Holoprosencephaly-Craniosynostosis Syndrome	Short stature, Holoprosencephaly, Microcephaly	ORPHA:2163
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Cerebral calcification, Cerebellar vermis hypoplasia, Microcephaly, Basal gangl...	OMIM:617281
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Fetal pyelectasis, Cerebral atrophy, Ce...	OMIM:616900
Joubert Syndrome 3	Frontal polymicrogyria, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Stage 5 c...	OMIM:608629
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Hydrocephalus, Chiari malformation, Aplasia/Hypoplasia of the cerebell...	ORPHA:93262
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma...	OMIM:231680
Tetrasomy 15Q26	Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, Atrial septal defect, Hydron...	OMIM:614846
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Micrognathia, Holoprosencephaly, Biparietal narrowing, Aplasia/Hypoplasia of...	ORPHA:818
Glycosylphosphatidylinositol Biosynthesis Defect 17	Growth delay, Dysplastic corpus callosum, Primary microcephaly	OMIM:618010
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cyst, Renal cell carcinoma, Large intestinal polyposis, Colon cancer	OMIM:135150
Joubert Syndrome 10	Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Growth delay, Macrocephaly	OMIM:300804
Isolated Polycystic Liver Disease	Multiple renal cysts, Vascular dilatation	ORPHA:2924
Bresek Syndrome	Renal dysplasia, Hypoplasia of the bladder, Optic nerve hypoplasia, Microcephaly, Cryptorchidism,...	ORPHA:85284
Focal Dermal Hypoplasia	Delayed eruption of teeth, Ureteral duplication, Short stature, Microcephaly, Cryptorchidism, Hyd...	OMIM:305600
Machado-Joseph Disease Type 1	Cerebellar atrophy, Dilated fourth ventricle, Neurogenic bladder, Substantia nigra gliosis, Degen...	ORPHA:276238
Machado-Joseph Disease Type 2	Cerebellar atrophy, Dilated fourth ventricle, Neurogenic bladder, Substantia nigra gliosis, Degen...	ORPHA:276241
Odontochondrodysplasia 1	Polycystic kidney dysplasia, Nephronophthisis	OMIM:184260
Au-Kline Syndrome	Cryptorchidism, Lipomyelomeningocele, Dental malocclusion, Chronic kidney disease, Dilatation of ...	OMIM:616580
Holoprosencephaly 3	Microcephaly, Holoprosencephaly, Malar flattening, Hydronephrosis, Ventriculomegaly	OMIM:142945
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Ventricular septal defect, Hypospadias, Pulmonary artery atresia, M...	OMIM:301056
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Polycystic ovaries, Coar...	ORPHA:371428
Craniosynostosis 6	Cerebellar atrophy, Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of...	OMIM:616602
Aortic Valve Disease 2	Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen...	OMIM:614823
Mucolipidosis Iv	Cerebellar atrophy, Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly	OMIM:252650
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Polycystic kidney dysplasia, Abnormal heart morphology	OMIM:214110
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Ventricular septal defect, Hepatic cysts, Renal cyst	OMIM:263630
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa...	ORPHA:99125
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Peutz-Jeghers Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In...	ORPHA:2869
Marden-Walker Syndrome	Micrognathia, Epispadias, Agenesis of corpus callosum, Abnormal penis morphology, Multicystic kid...	ORPHA:2461
Fraser Syndrome 1	Encephalocele, Hypospadias, Abnormal cortical gyration, Microcephaly, Renal hypoplasia/aplasia, C...	OMIM:219000
Joubert Syndrome 22	Agenesis of cerebellar vermis, Temporal cortical atrophy, Renal hypoplasia, Hypoplasia of the cor...	OMIM:615665
Joubert Syndrome 4	Renal insufficiency, Cerebellar vermis hypoplasia, Abnormal renal medulla morphology, Stage 5 chr...	OMIM:609583
Cerebellar-Facial-Dental Syndrome	Ureteropelvic junction obstruction, Infancy onset short-trunk short stature, Severe short stature...	ORPHA:444072
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Secondary mi...	OMIM:619306
Solitary Median Maxillary Central Incisor	Short stature, Holoprosencephaly, Microcephaly	OMIM:147250
Syndromic Diarrhea	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Renal hypoplasia, Abn...	ORPHA:84064
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Short stature, Microcephaly, Lobar holoprosencephaly, Enamel agenesis, Ventriculomegaly	OMIM:614701
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Intestinal malrotation, Hamartoma of tongue, Cleft palate, Enlarged kidney, Polycystic kidney dys...	OMIM:613091
Mosaic Trisomy 9	Renal dysplasia, Ventriculomegaly, Hypoplasia of penis, Spina bifida, Microcephaly, Micrognathia,...	ORPHA:99776
Phelan-Mcdermid Syndrome	Ventricular septal defect, Abnormality of the kidney, Patent ductus arteriosus, Polycystic kidney...	OMIM:606232
Machado-Joseph Disease Type 3	Cerebellar atrophy, Dilated fourth ventricle, Neurogenic bladder, Substantia nigra gliosis, Degen...	ORPHA:276244
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary...	OMIM:615067
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Situs inversus totalis, Pancreatic cysts...	OMIM:267010
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Abnormal heart morphology, Polyc...	ORPHA:2237
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Hypoplasia of the zygomatic bone, Holoprosencephaly, Intrauterine growth reta...	ORPHA:556955
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Micrognathia, Microcephaly, Cryptorchidism, Hydrocepha...	ORPHA:2075
Diabetic Embryopathy	Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal aortic morpho...	ORPHA:1926
Combined Oxidative Phosphorylation Deficiency 11	Renal dysplasia, Hepatomegaly, Renal insufficiency, Death in infancy, Renal hypoplasia, Renal cys...	OMIM:614922
Epidermal Nevus Syndrome	Polycystic kidney dysplasia, Aortic aneurysm	ORPHA:35125
Peroxisome Biogenesis Disorder 12A (Zellweger)	Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Renal tubular dysf...	OMIM:614886
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Hypoplasia of penis, Abnormal dental enamel morphology, Microgn...	ORPHA:861
Intellectual Developmental Disorder, Autosomal Dominant 65	Dysgenesis of the hippocampus, Agenesis of corpus callosum, Noncommunicating hydrocephalus, Micro...	OMIM:619320
Transketolase Deficiency	Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary artery course, P...	ORPHA:488618
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Micrognathia, Dysplastic corpus callosum, Hydrocele testis, Cerebellar hypoplasia, ...	OMIM:618810
Waardenburg Syndrome	Myelomeningocele	ORPHA:3440
Developmental And Epileptic Encephalopathy 60	Hippocampal malrotation, Global brain atrophy	OMIM:617929
Bardet-Biedl Syndrome 4	Abnormality of the kidney, Renal cyst	OMIM:615982
Bilateral Generalized Polymicrogyria	Hypoplastic hippocampus, Short stature, Microcephaly, Diffuse white matter abnormalities, Abnorma...	ORPHA:208447
Jacobsen Syndrome	Hypospadias, Microcephaly, Micrognathia, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Macroc...	OMIM:147791
Joubert Syndrome 37	Hepatomegaly, Cerebellar vermis hypoplasia, Short stature, Cryptorchidism, Hydronephrosis, Hypopl...	OMIM:619185
Fanconi Anemia, Complementation Group O	Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst, Abnormal heart morphology	OMIM:613390
Perlman Syndrome	Nephrogenic rest, Renal hamartoma, Nephroblastomatosis, Interrupted aortic arch, Nephroblastoma	OMIM:267000
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu...	OMIM:616652
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Progressive microcephaly, Lissencephaly...	OMIM:615249
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st...	OMIM:618164
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hyperechogenic kidneys, Intestinal malrotation, Polycystic kidney dysplasia	OMIM:617866
Eales Disease	Myelopathy, Ischemic stroke, Multifocal cerebral white matter abnormalities	ORPHA:40923
Encephalocraniocutaneous Lipomatosis	Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap...	ORPHA:2396
Fraser Syndrome	Encephalocele, Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, ...	ORPHA:2052
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Tetralogy of Fallot, Hypospadias	ORPHA:1381
Chromosome 13Q14 Deletion Syndrome	Absent septum pellucidum, Micrognathia, Cryptorchidism, Growth delay, Holoprosencephaly, Hypoplas...	OMIM:613884
Ring Chromosome 7 Syndrome	Mandibular prognathia, Hypospadias, Short stature, Microcephaly, Abnormal cerebellum morphology, ...	ORPHA:1449
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Hepatomegaly, Grayish enamel, Carious teeth, Disproportionate short-trunk ...	OMIM:253010
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept...	OMIM:601927
Hartsfield Syndrome	Hypospadias, Alobar holoprosencephaly, Microcephaly, Cryptorchidism, Lobar holoprosencephaly, Gro...	OMIM:615465
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Mandibular prognathia, Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Si...	OMIM:620001
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Crouzon Syndrome	Hypoplasia of the maxilla, Hydrocephalus, Chiari malformation, Cerebellar hypoplasia	ORPHA:207
Pontocerebellar Hypoplasia, Type 13	Cerebellar vermis hypoplasia, Hypoplastic hippocampus, Microcephaly, Hypoplasia of the pons, Late...	OMIM:618606
Lowry-Maclean Syndrome	Hypospadias, Delayed eruption of primary teeth, Microcephaly, Bilateral cryptorchidism, Micrognat...	ORPHA:2409
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Micrognathia, Microcephaly, Dysplastic corpus callosum, Renal hypoplasia, Lacticaci...	OMIM:604273
Microphthalmia, Syndromic 9	Renal malrotation, Ventricular septal defect, Pulmonary artery atresia, Patent ductus arteriosus,...	OMIM:601186
Fetal Trimethadione Syndrome	Ventricular septal defect, Hypospadias, Transposition of the great arteries, Atrial septal defect...	ORPHA:1913
Hydrocephaly-Low Insertion Umbilicus Syndrome	Patent ductus arteriosus, Abnormality of the urinary system, Tetralogy of Fallot, Anomalous pulmo...	ORPHA:2184
Poland Syndrome	Encephalocele, Duplicated collecting system, Hypospadias, Microcephaly, Renal hypoplasia/aplasia,...	ORPHA:2911
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corpus callosum, Microlissenc...	OMIM:210710
Spinocerebellar Ataxia 2	Cerebellar atrophy, Dilated fourth ventricle, Urinary incontinence, Urinary bladder sphincter dys...	OMIM:183090
Adams-Oliver Syndrome 1	Encephalocele, Ventriculomegaly, Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callo...	OMIM:100300
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the frontal sinuses, Craniu...	ORPHA:306542
Mckusick-Kaufman Syndrome	Hydroureter, Aganglionic megacolon, Rectovaginal fistula, Polycystic kidney dysplasia, Vesicovagi...	OMIM:236700
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Hypoplasia of the brainstem, Colpocephaly, Po...	ORPHA:250972
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia/aplasia, Abno...	ORPHA:2973
Waardenburg Syndrome, Type 1	Mandibular prognathia, Myelomeningocele, Spina bifida	OMIM:193500
Knobloch Syndrome	Vesicoureteral reflux, Occipital encephalocele, Hydrocephalus, Bifid ureter	ORPHA:1571
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Short stature, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callos...	OMIM:614833
Joubert Syndrome 36	Molar tooth sign on MRI, Macrocephaly	OMIM:618763
Charge Syndrome	Delayed eruption of teeth, Short stature, Microcephaly, Aqueductal stenosis, Cryptorchidism, Post...	ORPHA:138
Joubert Syndrome 30	Cerebellar atrophy, Dandy-Walker malformation, Molar tooth sign on MRI, Superior cerebellar dyspl...	OMIM:617622
Marfan Syndrome	Micrognathia, Abnormal zygomatic bone morphology, Meningocele, Dural ectasia, Retrognathia	ORPHA:558
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Micrognathia, Hydrocephalus, Retrognathia, ...	OMIM:620156
1Q44 Microdeletion Syndrome	Short stature, Microcephaly, Micrognathia, Hydrocephalus, Horseshoe kidney, Growth delay, Biparie...	ORPHA:238769
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar...	ORPHA:220460
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Meningocele	ORPHA:1010
Peroxisome Biogenesis Disorder 5A (Zellweger)	Micrognathia, Renal cyst, Pachygyria, Agenesis of corpus callosum, Intrahepatic biliary dysgenesi...	OMIM:614866
Spinocerebellar Ataxia 1	Spinocerebellar atrophy, Urinary bladder sphincter dysfunction, Olivopontocerebellar atrophy, Dil...	OMIM:164400
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di...	ORPHA:805
Hydrocephalus, Congenital, X-Linked	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Macrocephaly, Corticospinal tract h...	OMIM:307000
Developmental Delay With Or Without Dysmorphic Facies And Autism	Cerebellar vermis hypoplasia, Short stature, Microcephaly, Micrognathia, Cryptorchidism, Renal hy...	OMIM:618454
Roberts-Sc Phocomelia Syndrome	Hypospadias, Microcephaly, Micrognathia, Cryptorchidism, Hydrocephalus, Frontal encephalocele, Bi...	OMIM:268300
X-Linked Cerebral Adrenoleukodystrophy	Myelopathy, Abnormal periventricular white matter morphology, Abnormal brainstem white matter mor...	ORPHA:139396
Arnold-Chiari Malformation Type I	Chiari type I malformation, Myelopathy, Urinary incontinence, Brain stem compression	ORPHA:268882
Machado-Joseph Disease	Cerebellar atrophy, Urinary bladder sphincter dysfunction, Dilated fourth ventricle	OMIM:109150
Joubert Syndrome 35	Multicystic kidney dysplasia, Cerebellar vermis hypoplasia, Recurrent urinary tract infections, R...	OMIM:618161
Foix-Alajouanine Syndrome	Neurogenic bladder, Urinary incontinence, Myelopathy, Functional abnormality of the bladder, Cerv...	ORPHA:79093
47,Xyy Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Abnormal brainstem morphology, Oligozoospermia, Azoos...	ORPHA:8
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ...	ORPHA:2306
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Mandibular prognathia, Recurrent urinary tract infections, Hypospadias, Micro...	OMIM:619103
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Say Syndrome	Proximal renal tubular acidosis, Cleft palate, Cystic renal dysplasia	OMIM:181180
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Hepatomegaly, Grayish enamel, Carious teeth, Disproportionate short-trunk ...	OMIM:253000
Walker-Warburg Syndrome	Ventriculomegaly, Hypoplasia of penis, Absent septum pellucidum, Abnormal cortical gyration, Micr...	ORPHA:899
Feingold Syndrome 1	Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus, Interrupted aortic arch,...	OMIM:164280
Full Nf2-Related Schwannomatosis	Myelopathy, Abnormal cerebellum morphology, Hydrocephalus, Brain stem compression, Spinal meningi...	ORPHA:637
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Proteinuria, Dysplas...	ORPHA:488627
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Tetralogy of Fallot, Renal cyst, Sta...	ORPHA:2044
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Coarctation of aorta	OMIM:140850
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Ventricular septal defect, Tubular luminal dilatation, Renal corticomedullar...	OMIM:219730
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Hydrocephalus, Cortical dysplasia, Porencephalic cyst, Cerebellar hypoplasia, Hyp...	OMIM:613001
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology	ORPHA:1110
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Optic nerve hypoplasia, Unilateral renal agenesis, Abnormal pa...	ORPHA:141099
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ...	OMIM:619343
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Hydrocephalus,...	ORPHA:3301
Wolcott-Rallison Syndrome	Atrial septal defect, Renal insufficiency, Double outlet right ventricle, Chronic kidney disease	ORPHA:1667
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Ventricular septal defect, Unilateral renal agenesis, Paten...	OMIM:188400
Stromme Syndrome	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Micrognathia, Hydrocephalus, ...	OMIM:243605
3-Methylglutaconic Aciduria Type 7	Cerebellar atrophy, Elevated hepatic transaminase, Renal insufficiency, Abnormal basal ganglia mo...	ORPHA:445038
Colonic Atresia	Abdominal situs inversus, Peptic ulcer, Colonic atresia, Duodenal stenosis	ORPHA:1198
Bardet-Biedl Syndrome 17	Dextrocardia, Polyuria, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Micro...	OMIM:615994
Craniofacial Microsomia 1	Occipital encephalocele, Multicystic kidney dysplasia, Renal agenesis, Micrognathia, Hypoplasia o...	OMIM:164210
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Pancreatic cysts, Polycystic kidney dysplasia, Renal cyst, Hiatus hernia	OMIM:610199
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/apl...	ORPHA:2473
Joubert Syndrome 32	Molar tooth sign on MRI, Abnormal cerebellum morphology, Polymicrogyria, Macrocephaly	OMIM:617757
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Cholangiocarcinoma, Reduced renal corticomedullary differentiation, ...	ORPHA:731
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Combined Oxidative Phosphorylation Deficiency 54	Microretrognathia, Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matt...	OMIM:619737
Dextrocardia	Dextrocardia, Situs inversus totalis, Abnormal renal morphology, Abnormality of the ureter, Abnor...	ORPHA:1666
Vater/Vacterl Association	Renal dysplasia, Occipital encephalocele, Hypospadias, Renal agenesis, Spina bifida, Ectopic kidn...	OMIM:192350
Hydrolethalus	Absent septum pellucidum, Micrognathia, Cryptorchidism, Hydrocephalus, Anencephaly, Retrognathia,...	ORPHA:2189
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Renal insufficiency, Hypos...	ORPHA:261494
Lenz-Majewski Hyperostotic Dwarfism	Relative macrocephaly, Mandibular prognathia, Hypospadias, Short stature, Microcephaly, Micrognat...	OMIM:151050
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Micrognathia, Myelopathy, Growth delay, Severe postnatal growth retardation, Mucopo...	OMIM:252500
Holoprosencephaly, Semilobar, With Craniosynostosis	Semilobar holoprosencephaly	OMIM:601370
Down Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part...	OMIM:190685
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Optic nerve hypoplasia, Alobar holoprosencephaly, Microcephaly, Micrognath...	OMIM:301043
Adult Krabbe Disease	Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Urinary incontinence, Abnorm...	ORPHA:206448
Monosomy 13Q14	Short stature, Micrognathia, Microcephaly, Holoprosencephaly, Hypoplasia of the corpus callosum, ...	ORPHA:1587
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Carious teeth, Multicystic kidney dysplasia, Macrocephaly	ORPHA:3270
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Abnormal morphology of the limbic system, Absen...	OMIM:101200
Joubert Syndrome 31	Molar tooth sign on MRI, Ventriculomegaly, Hypoplasia of the corpus callosum	OMIM:617761
Dworschak-Punetha Neurodevelopmental Syndrome	Microcephaly, Dysplastic corpus callosum, Unilateral renal hypoplasia, Colpocephaly, Vesicoureter...	OMIM:619955
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Microretrognathia, Microcephaly, Bilateral cryptorchidism, Epispadias, ...	ORPHA:434179
Neu-Laxova Syndrome 2	Spina bifida, Microcephaly, Micrognathia, Lissencephaly, Cerebellar hypoplasia, Intrauterine grow...	OMIM:616038
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Double outlet right ventricle, ...	ORPHA:163956
Distal Deletion 12Q	Ectopic kidney, Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Polycystic ki...	ORPHA:96149
Giant Cell Arteritis	Renal insufficiency, Pericarditis, Vasculitis, Hematuria, Aortic dissection, Double outlet right ...	ORPHA:397
Distal Deletion 15Q	Multicystic kidney dysplasia, Bicuspid aortic valve, Mitral atresia, Hypospadias, Double outlet r...	ORPHA:1596
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Hypospadias, Short stature, Microcephaly, Micrognathia, Dysplastic ...	ORPHA:314679
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Abnormal dental enamel morphology, Cryptorchidism, Hydrocephalus, Hypoplasia...	ORPHA:1812
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar...	OMIM:613834
D-Bifunctional Protein Deficiency	Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Ventriculomegaly, Cerebral dysmy...	OMIM:261515
Even-Plus Syndrome	Recurrent urinary tract infections, Severe short stature, Dysplastic corpus callosum, Renal hypop...	OMIM:616854
Joubert Syndrome 23	Dysplastic corpus callosum, Cerebellar dysplasia	OMIM:616490
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect	OMIM:617616
Hajdu-Cheney Syndrome	Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Renal cyst, Polycystic kidney d...	OMIM:102500
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Short stature, Microcephaly, Hypoplasia of the maxilla, Decreased testicul...	ORPHA:93950
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the maxilla, Subcortical band heterotopia, Subependymal cysts, Hypoplasia of the co...	OMIM:618737
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Cerebellar vermis hypoplasia, Urinary incontinence, Large basal ganglia, C...	ORPHA:261552
Carpenter Syndrome 1	Hydroureter, Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Persistence ...	OMIM:201000
Mosaic Trisomy 1	Microretrognathia, Hepatic agenesis, Cerebellar vermis hypoplasia, Renal cyst, Renal cortical cys...	ORPHA:1692
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra...	OMIM:619910
Ogden Syndrome	Global glomerulosclerosis, Peripheral pulmonary artery stenosis, Bicuspid aortic valve, Left atri...	OMIM:300855
Coach Syndrome 3	Renal insufficiency, Stage 5 chronic kidney disease, Portal fibrosis, Renal interstitial inflamma...	OMIM:619113
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Short stature, Micrognathia, Cryptorchidism, Renal cyst, Horseshoe kidney, Chiari type I malforma...	ORPHA:166035
Holoprosencephaly 1	Short stature, Microcephaly, Alobar holoprosencephaly, Cerebellar hypoplasia, Micropenis, Ethmoce...	OMIM:236100
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Abnormal cerebellum morphology, Myel...	ORPHA:909
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Abnormal aortic arch morphology, Abnormal cardiac sept...	ORPHA:2059
Ritscher-Schinzel Syndrome 4	Short stature, Dysgenesis of the hippocampus, Cryptorchidism, Mild fetal ventriculomegaly, Cerebe...	OMIM:619435
Holoprosencephaly 2	Aplasia of the premaxilla, Alobar holoprosencephaly, Microcephaly, Holoprosencephaly, Cerebellar ...	OMIM:157170
Cardioacrofacial Dysplasia 1	Complete atrioventricular canal defect, Atrioventricular canal defect	OMIM:619142
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Absent septum pellucidum, Hypoplasia of the max...	ORPHA:87
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Hepatomegaly, Short stature, Carious teeth, Hydrocephalus, Disproporti...	OMIM:253200
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Short stature, Microcephaly, Lateral vent...	OMIM:619869
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular...	OMIM:617168
Al-Gazali-Bakalinova Syndrome	Hypoplasia of the corpus callosum, Macrocephaly, Molar tooth sign on MRI, Malar flattening, Agene...	OMIM:607131
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Atrial septal defect, Micropenis, Ventricular septal defect, Polycystic kidney dysplasia	OMIM:263520
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Hypospadias, Hypoplasia of the maxilla, Cryptorchidism, Hydrocephalus, Umb...	OMIM:601499
Neurooculorenal Syndrome	Hypoplasia of the bladder, Cerebellar vermis hypoplasia, Unilateral renal agenesis, Micrognathia,...	OMIM:620305
Joubert Syndrome 20	Renal cyst	OMIM:614970
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Stroke-like epis...	OMIM:300845
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Short stature, Microcephaly, Hypoplasia of the maxilla, Cryptorchidism, Macrocephaly, Decreased t...	ORPHA:85279
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Constricting Bands, Congenital	Encephalocele, Bladder exstrophy	OMIM:217100
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Cerebellar atrophy, Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Cerebral atrophy,...	OMIM:615398
Pallister-Hall Syndrome	Abnormal basal ganglia MRI signal intensity, Microretrognathia, Natal tooth, Renal dysplasia, Hyp...	ORPHA:672
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab...	ORPHA:402075
Trisomy 20P	Hypospadias, Abnormality of the kidney, Spina bifida, Micrognathia, Cryptorchidism, Abnormality o...	ORPHA:261318
Peroxisome Biogenesis Disorder 11A (Zellweger)	Elevated hepatic transaminase, Renal cyst, Lissencephaly, Decreased liver function, Multiple rena...	OMIM:614883
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen...	ORPHA:363444
Femoral-Facial Syndrome	Renal agenesis, Ventricular septal defect, Abnormal renal collecting system morphology, Micropeni...	OMIM:134780
Microcephaly-Capillary Malformation Syndrome	Hypoplastic hippocampus, Short stature, Hypoplasia of the maxilla, Simplified gyral pattern, Cere...	OMIM:614261
Microtia	Holoprosencephaly	ORPHA:83463
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, High pa...	DECIPHER:81
Joubert Syndrome 25	Molar tooth sign on MRI, Cerebellar hypoplasia	OMIM:616781
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Hypospadias, Nephroblastoma, Micrognathia, Abnormality of the ureter, ...	ORPHA:798
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap...	OMIM:612561
Jacobsen Syndrome	Death in infancy, Multicystic kidney dysplasia, Short stature, Spina bifida, Cryptorchidism, Cere...	ORPHA:2308
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Cerebellofaciodental Syndrome	Short stature, Microcephaly, Hypoplasia of the pons, Cryptorchidism, Dental malocclusion, Taurodo...	OMIM:616202
Diets-Jongmans Syndrome	Heterotaxy, Interrupted inferior vena cava with azygous continuation, Ventricular septal defect, ...	OMIM:618846
Microcephaly 26, Primary, Autosomal Dominant	Short stature, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of ...	OMIM:619179
Knobloch Syndrome 2	Encephalocele, Enamel hypoplasia, Micrognathia	OMIM:618458
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cryptorchidism, Dysplastic corpus callosum, Hypospadias, Intrauterine growth retardation	OMIM:620135
Oculoskeletodental Syndrome	Short stature, Dysplastic corpus callosum, Nephrocalcinosis, Enamel hypoplasia, Retrognathia, Foc...	ORPHA:557003
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Microcephaly, Hypopla...	OMIM:129900
Microtia-Anotia	Holoprosencephaly	OMIM:600674
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Caroli Disease	Cholangiocarcinoma, Esophageal varix, Polycystic kidney dysplasia	ORPHA:53035
Pfeiffer Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Hydrocephalus, Chiari malformation	OMIM:101600
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Death in infancy, Hypospadias, Short stature, Microce...	ORPHA:912
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Bilateral cryptorchidism, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosu...	ORPHA:544488
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Microcephaly, Micrognathia, Cryptorchidism, Hypoplasia of the maxill...	ORPHA:2462
Cohen Syndrome	Short stature, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Thick corpus callosum, Cere...	OMIM:216550
20P12.3 Microdeletion Syndrome	Short stature, Hypoplasia of the maxilla, Macrocephaly, Malar flattening, Ventriculomegaly	ORPHA:261295
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres...	ORPHA:210122
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Short stature, Renal agenesis, Micrognathia, Bilateral cryptorchidi...	ORPHA:2754
Trisomy 13	Displacement of the urethral meatus, Cryptorchidism, Abnormality of the ureter, Chiari malformati...	ORPHA:3378
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Renal agenesis, Microcephaly, Cerebral atrophy...	OMIM:220500
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morph...	ORPHA:980
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Renal hypoplasia/aplasia, Microcephaly, Abnormal localization of kidney, Holo...	ORPHA:3186
Congenital Disorder Of Glycosylation, Type Ib	Villous atrophy, Renal cyst, Proximal tubulopathy, Protein-losing enteropathy, Steatorrhea	OMIM:602579
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Mild postnatal growth retardation, Short statur...	OMIM:101800
Acrorenal-Mandibular Syndrome	Renal agenesis, Abnormality of the ureter, Narrow palate, Aplasia of the bladder, High palate, Po...	OMIM:200980
Histiocytoid Cardiomyopathy	Hepatomegaly, Hydrocephalus, Renal cyst, Polycystic ovaries, Cerebellar malformation, Agenesis of...	ORPHA:137675
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Cerebellar vermis hypoplasia, Short stature, Micrognathia, Microcephaly, Re...	OMIM:618460
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Microcephaly, Growth delay, Enamel hypoplasia, Agenesis of corpus c...	OMIM:619980
Spondyloepiphyseal Dysplasia Congenita	Cervical myelopathy, Neonatal short-trunk short stature, Malar flattening	OMIM:183900
Amoebiasis Due To Free-Living Amoebae	Abnormal medulla oblongata morphology, Sinusitis, Abnormal midbrain morphology, Abnormal brainste...	ORPHA:68
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Multicystic kidney dysplasia, Paranasal sinus hypoplasia, Short stature, Micrognathi...	OMIM:300373
Caroli Syndrome	Cholangiocarcinoma, Abnormality of the kidney, Hematemesis, Esophageal varix, Melena, Polycystic ...	ORPHA:480520
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Ventricular septal defect, Vascular ring	OMIM:603387
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Hypoplasia of the maxilla, Diffuse white matter abnormalities, Agenesis of corpus callosum, Ventr...	OMIM:218000
Frontofacionasal Dysplasia	Cranium bifidum occultum, Malar flattening, Hypoplasia of the frontal bone	OMIM:229400
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Aicardi Syndrome	Prominence of the premaxilla, Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Dilated t...	OMIM:304050
Aarskog-Scott Syndrome	Delayed eruption of teeth, Short stature, Hypoplasia of the maxilla, Cryptorchidism, Umbilical he...	ORPHA:915
Neu-Laxova Syndrome 1	Ventriculomegaly, Hydranencephaly, Renal agenesis, Spina bifida, Micrognathia, Cryptorchidism, Ch...	OMIM:256520
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Cholangitis, Micrognathia, Renal cyst, Hepatic fibrosis, Nephronophthisis, ...	OMIM:266920
Shprintzen-Goldberg Craniosynostosis Syndrome	Microcephaly, Micrognathia, Cryptorchidism, Hydrocephalus, Hypoplasia of the maxilla, Dental malo...	OMIM:182212
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Ventricular septal defect, Pulm...	OMIM:280000
8P23.1 Microdeletion Syndrome	Hypospadias, Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy, Ab...	ORPHA:251071
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal defect,...	ORPHA:2847
20Q13.33 Microdeletion Syndrome	Dilation of Virchow-Robin spaces, Hypospadias, Abnormal cardiac ventricle morphology, Hypoplastic...	ORPHA:261311
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft palate, Vesico...	ORPHA:107
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Short stature, Microcephaly, Renal cyst, Colpocephaly, Hypoplasia of the corpus callosum, Agenesi...	OMIM:617260
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Urethral valve, Microcephaly, Cry...	OMIM:107480
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis	OMIM:618223
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Death in early adulthood, Short stature, Mi...	ORPHA:192
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Optic nerve hypoplasia, Microcephaly, Hydronephrosis, Growth delay,...	ORPHA:261349
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Cerebral calcification, Microcephaly, Cryptorchidism, Fetal megacys...	ORPHA:73246
Mohr Syndrome	Short stature, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus, Porencephalic cyst, Agenes...	OMIM:252100
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Pituitary dwarfism, Absent septum pellucidum, Optic nerve hypoplasia, Grow...	ORPHA:95494
Combined Oxidative Phosphorylation Deficiency 53	Death in infancy, Hepatomegaly, Short stature, Dysplastic corpus callosum, Secondary microcephaly...	OMIM:619423
Contractures-Developmental Delay-Pierre Robin Syndrome	Hypospadias, Micrognathia, Abnormal hippocampus morphology, Chiari type I malformation, Abnormali...	ORPHA:436003
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect	OMIM:243440
Renal Hypoplasia, Bilateral	Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin...	ORPHA:97362
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Cryptorchidism, Disproportionate short stature, Occipital meningocele, Hypospadias	OMIM:276820
Steinfeld Syndrome	Absent gallbladder, Unilateral renal dysplasia, Holoprosencephaly	OMIM:184705
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Dilated fourth ventricle, Renal dysplasia, Ventriculomegaly, Cerebellar vermis hypoplasia, Short ...	ORPHA:480880
Biotinidase Deficiency	Myelopathy, Organic aciduria	ORPHA:79241
Martsolf Syndrome 1	Enlarged sylvian cistern, Short stature, Microcephaly, Micrognathia, Cryptorchidism, Hypoplasia o...	OMIM:212720
Aprosencephaly And Cerebellar Dysgenesis	Micrognathia, Poorly formed metencephalon, Aprosencephaly, Absent mesencephalon, Cerebellar dyspl...	OMIM:601374
Tibial Hemimelia	Cryptorchidism, Myelomeningocele, Hypospadias	ORPHA:93322
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the maxilla, Hypoplasia of the brainstem, Progressive microcephaly, Hypoplasia of t...	ORPHA:481152
Oculocerebral Hypopigmentation Syndrome, Preus Type	Short stature, Hydrocephalus, Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum...	ORPHA:2720
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Vasculitis, Sterile pyur...	ORPHA:2331
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Renal agenesis, Intestinal malrotation, Hiatus hernia, Renal hypopl...	ORPHA:2538
Hajdu-Cheney Syndrome	Hepatomegaly, Hypospadias, Short stature, Micrognathia, Absent frontal sinuses, Hydrocephalus, Ab...	ORPHA:955
Axial Osteomalacia	Renal cyst	OMIM:109130
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Microcephaly, Cryptorchidism, Abnormal brainstem morpholo...	ORPHA:464311
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abnormality of the gastrointestinal tract, Multicystic kidney dysplasia, Hydroureter, Intestinal ...	ORPHA:2241
Cat Eye Syndrome	Ventricular septal defect, Renal agenesis, Patent ductus arteriosus, Vesicoureteral reflux, Horse...	OMIM:115470
Lujan-Fryns Syndrome	Micrognathia, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the corpus callosum, Macrocephaly,...	ORPHA:776
Zttk Syndrome	Relative macrocephaly, Absent gallbladder, Short stature, Polyuria, Unilateral renal agenesis, Hy...	OMIM:617140
Familial Congenital Mirror Movements	Agenesis of corpus callosum, Abnormal corticospinal tract morphology, Dysgenesis of the hippocampus	ORPHA:238722
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Micrognathia, Chiari type I malformation, Arachnoid cyst, Macroceph...	ORPHA:261197
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Short stature, Unilateral renal agenesis, Microcephaly, Cryptorchidism, Renal cyst, ...	ORPHA:464306
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Proteinuria, Micrognathia, Hypoplasia of the maxilla, Stage 5 chronic kidney...	OMIM:166300
Frank-Ter Haar Syndrome	Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de...	OMIM:249420
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias, Microcephaly, Cryptorchidism, Dental malocclusion, Int...	ORPHA:2115
Tetrasomy 9P	Micrognathia, Biliary atresia, Micropenis, Pachygyria, Dandy-Walker malformation, Amelogenesis im...	ORPHA:3310
Bardet-Biedl Syndrome 6	Hypospadias, Renal cyst	OMIM:605231
Pycnodysostosis	Obtuse angle of mandible, Rhizomelia, Cerebral dysmyelination, Micrognathia, Hypoplasia of the ma...	ORPHA:763
Developmental And Epileptic Encephalopathy 6B	Hypoplastic hippocampus, Arachnoid cyst	OMIM:619317
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Short stature, Microcephaly, Macrocephaly, Umbilical hernia, Nephro...	ORPHA:1001
Hydrolethalus Syndrome 1	Hypospadias, Absent septum pellucidum, Abnormal cortical gyration, Micrognathia, Anencephaly, Sti...	OMIM:236680
Basilar Impression, Primary	Craniofacial asymmetry, Abnormal cervical myelogram	OMIM:109500
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve...	ORPHA:95430
Parkes Weber Syndrome	Myelopathy, Dural ectasia, Nephrotic syndrome, Abnormality of the urinary system, Urinary retention	ORPHA:90307
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Absent pulmonary artery, Coarct...	OMIM:600460
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Microcephaly, Growth delay, Hypoplasia of the corpus callosum, Intrauterine growth retardation, R...	OMIM:301044
Holoprosencephaly 4	Semilobar holoprosencephaly	OMIM:142946
Optic Atrophy-Intellectual Disability Syndrome	Abnormal hippocampus morphology, Short stature, Optic nerve hypoplasia, Hypoplasia of the corpus ...	ORPHA:401777
Thoracoabdominal Syndrome	Renal agenesis, Hypospadias, Patent ductus arteriosus, Transposition of the great arteries, Ectop...	OMIM:313850
Genitopatellar Syndrome	Delayed eruption of teeth, Multicystic kidney dysplasia, Short stature, Micrognathia, Microcephal...	ORPHA:85201
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Short stature, Rhizomelia, Micro...	ORPHA:709
Fryns Syndrome	Microretrognathia, Ureteral duplication, Hypospadias, Renal agenesis, Cryptorchidism, Hypoplasia ...	OMIM:229850
Charge Syndrome	Renal agenesis, Micrognathia, Microcephaly, Cryptorchidism, Postnatal growth retardation, Renal h...	OMIM:214800
Focal Dermal Hypoplasia	Acute hepatic failure, Multicystic kidney dysplasia, Abnormal dental enamel morphology, Spina bif...	ORPHA:2092
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Dark urine, Postnatal growth r...	ORPHA:79303
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe...	OMIM:619472
Diaphanospondylodysostosis	Nephrogenic rest, Micrognathia, Disproportionate short-trunk short stature, Nephroblastomatosis, ...	OMIM:608022
Japanese Encephalitis	Abnormal substantia nigra morphology, Abnormal midbrain morphology, Abnormal pons morphology, Abn...	ORPHA:79139
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Hypospadias, Lateral ventricle dilatation, Disproportionate short-limb short stature, Hypoplasia ...	OMIM:619479
Roberts Syndrome	Long penis, High palate, Polycystic kidney dysplasia, Cleft palate	ORPHA:3103
Chondrodysplasia, Blomstrand Type	Preductal coarctation of the aorta	OMIM:215045
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Hepatomegaly, Ureteral duplication, Hypoplasia of penis, Multicystic kidne...	ORPHA:373
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Renal hypoplasia	OMIM:246560
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Renal insufficiency, Conotruncal defect, Coarctation of aorta, Abnormal card...	ORPHA:96147
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Death in infancy, Multicystic kidney dysplasia, Hypospadias, Short stature, Unilateral renal agen...	OMIM:308205
Crouzon Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Hydrocephalus	OMIM:123500
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Patent foramen ovale, Transposition of the great arteries	OMIM:616789
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary u...	OMIM:300266
Complete Atrioventricular Septal Defect	Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, Displacement o...	ORPHA:1329
Cowden Syndrome 1	Dysplastic gangliocytoma of the cerebellum, Micrognathia, Hypoplasia of the maxilla, Progressive ...	OMIM:158350
Familial Infantile Myoclonic Epilepsy	Cerebellar atrophy, Thick cerebral cortex, Abnormal hippocampus morphology	ORPHA:352582
African Trypanosomiasis	Abnormal basal ganglia MRI signal intensity, Hepatomegaly, Renal insufficiency, Miscarriage, Urin...	ORPHA:3385
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Hypospadias, Abnormal dental enamel morphology, Micrognathia, Hypoplasia o...	ORPHA:439822
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Short stature, Microcephaly, Micrognathia, Cryptorchidism, Hypoplasia of t...	OMIM:300534
Campomelia, Cumming Type	Multicystic kidney dysplasia, Pancreatic cysts, Cleft palate, Multiple renal cysts, Abnormal inte...	ORPHA:1318
Joubert Syndrome 33	Molar tooth sign on MRI, Macrocephaly	OMIM:617767
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Macrocephaly	ORPHA:397973
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Hypospadias, Patent ductus arteriosus, Hypoplastic aorti...	OMIM:300166
You-Hoover-Fong Syndrome	Coarctation of aorta, Double aortic arch, Vascular ring	OMIM:616954
Penile Agenesis	Urethral atresia, male, Hydroureter, Rectal fistula, Fetal pyelectasis, Anorectal anomaly, Bilate...	ORPHA:49
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Hypoplastic left heart	OMIM:618829
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, P...	ORPHA:93111
Joubert Syndrome 27	Molar tooth sign on MRI, Dilatation of the renal pelvis	OMIM:617120
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Renal insufficiency, Proteinuria, Short stature, Hypoplasia of the maxilla, Cr...	ORPHA:1307
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort...	OMIM:617506
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Ventricular septal defect, Renal cyst, Mitral valve prolapse, Varicose veins, ...	OMIM:617107
Cornelia De Lange Syndrome 1	Delayed eruption of teeth, Hypospadias, Proteinuria, Short stature, Micrognathia, Ectopic kidney,...	OMIM:122470
Chromosome 17Q12 Deletion Syndrome	Elevated hepatic transaminase, Mandibular prognathia, Multicystic kidney dysplasia, Recurrent uri...	OMIM:614527
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Cerebellar atrophy, Micrognathia, Hypercalciuria, Renal cyst, Nephrocalcinosis, Congenital megaur...	ORPHA:369837
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Short stature	OMIM:156510
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Simplified gyral pattern, Cerebellar hemisphere hypoplasia, Absent gal...	ORPHA:500150
Thakker-Donnai Syndrome	Hydronephrosis, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries	ORPHA:1780
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Cerebellar vermis hypoplasia, Hypospadias, Optic nerve hypoplasia, Microcephaly, Hypoplasia of th...	ORPHA:495875
Joubert Syndrome 40	Molar tooth sign on MRI, Optic nerve hypoplasia	OMIM:619582
Cystic Echinococcosis	Renal cyst, Abnormal heart morphology, Ovarian cyst, Membranous nephropathy, Hepatic cysts	ORPHA:400
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Hypoplasia of the maxilla, Intrauterine growth retardation, Short stature	OMIM:608154
Peters-Plus Syndrome	Ureteral duplication, Bilobate gallbladder, Micrognathia, Hypoplasia of the maxilla, Conical inci...	OMIM:261540
Rubinstein-Taybi Syndrome 1	Hypospadias, Short stature, Spina bifida, Microcephaly, Bilateral cryptorchidism, Cryptorchidism,...	OMIM:180849
Trisomy 10P	Absent gallbladder, Periventricular white matter hypodensities, Abnormality of the kidney, Microg...	ORPHA:171929
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Pitt-Hopkins Syndrome	Hypoplastic hippocampus, Microcephaly, Cryptorchidism, Secondary microcephaly, Hypoplasia of the ...	OMIM:610954
Congenital Disorder Of Glycosylation, Type If	Death in infancy, Microcephaly, Renal cortical cysts, Cerebral atrophy, Ventriculomegaly	OMIM:609180
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis	OMIM:617877
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Short stature	ORPHA:2776
Monosomy 18Q	Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen...	ORPHA:1600
Microphthalmia With Limb Anomalies	Death in infancy, Short stature, Hypoplasia of the premaxilla, Micrognathia, Hypoplasia of the ma...	ORPHA:1106
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Micrognathia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Death i...	ORPHA:534
Keipert Syndrome	Hypoplasia of the maxilla, Short stature, Macrocephaly	ORPHA:2662
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short stature, Micrognathia, Hypoplasia of the maxilla, Secondary microcephaly, Malar flattening	ORPHA:79113
Hydranencephaly	Abnormal corpus striatum morphology, Hypoplastic hippocampus, Optic nerve hypoplasia, Postnatal g...	ORPHA:2177
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Hepatomegaly, Cerebellar vermis hypoplasia, Hypospadias, Cryptorchidism, H...	OMIM:312870
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dysplastic corpus ca...	OMIM:614924
Exstrophy-Epispadias Complex	Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd...	ORPHA:322
Congenital Tracheal Stenosis	Ventricular septal defect, Abnormality of the kidney, Ascending aorta hypoplasia, Patent ductus a...	ORPHA:141127
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla, Macrocephaly	OMIM:300676
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect, Renal cyst, Horseshoe kidney	OMIM:250410
Leopard Syndrome 1	Hypospadias, Unilateral renal agenesis, Complete atrioventricular canal defect, Mitral valve prol...	OMIM:151100
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Short stature, Amelogenesis imperfecta	OMIM:601216
Alagille Syndrome 1	Duplicated collecting system, Ventricular septal defect, Multiple small medullary renal cysts, Ve...	OMIM:118450
Greenberg Dysplasia	Hepatomegaly, Rhizomelia, Micrognathia, Hypoplasia of the maxilla, Large placenta, Hepatic calcif...	OMIM:215140
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Ventricular septal defect, Mitral atresia, Unilateral renal agenesis, Ascending aorta hypoplasia,...	OMIM:619503
Maxillonasal Dysplasia	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:1248
Joubert Syndrome 28	Molar tooth sign on MRI	OMIM:617121
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs...	OMIM:600740
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Ventriculomegaly, Hypoplasia of penis, Urethrovaginal fistula, Micrognathia, Cryptorchidism, Cong...	ORPHA:93271
8Q24.3 Microdeletion Syndrome	Ventricular septal defect, Abnormality of the kidney, Unilateral renal agenesis, Complete atriove...	ORPHA:508488
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Agenesis of corpus callosum, Hippocampal malrotation	OMIM:614402
Van Maldergem Syndrome 1	Hypospadias, Micrognathia, Hypoplasia of the maxilla, Subcortical band heterotopia, Dental malocc...	OMIM:601390
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Meier-Gorlin Syndrome 7	Urethral stricture, Ventricular septal defect, Hypospadias, Complete atrioventricular canal defec...	OMIM:617063
Branchiooculofacial Syndrome	Agenesis of cerebellar vermis, Hypospadias, Renal agenesis, Micrognathia, Microcephaly, Cryptorch...	OMIM:113620
Van Maldergem Syndrome 2	Hypospadias, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Subcortical band heterotopi...	OMIM:615546
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Complete atrioventricular canal defect, Urinary incontinence	ORPHA:476126
Williams Syndrome	Hypoplasia of penis, Micrognathia, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Vesi...	ORPHA:904
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Hepatomegaly, Miscarriage, Short stature, Microcephaly, Micrognathia, Cryp...	ORPHA:96334
Dravet Syndrome	Global brain atrophy, Dysgenesis of the hippocampus	ORPHA:33069
Meier-Gorlin Syndrome 4	Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Microcephaly, Birth lengt...	OMIM:613804
De Barsy Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Prominent veins on ...	ORPHA:2962
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Micrognathia, Hypoplasia of the maxilla, Macrocephaly, Macroorchidism, Agenesis of corpus callosum	OMIM:309520
Bardet-Biedl Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Cryptorchidism, Nephrotic syndr...	ORPHA:110
Meier-Gorlin Syndrome 5	Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Microcephaly, Birth lengt...	OMIM:613805
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Autosomal Recessive Robinow Syndrome	Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Micrognathia, Cryptorchidism...	ORPHA:1507
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla	ORPHA:1529
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla...	ORPHA:84081
Tuberous Sclerosis 1	Renal cyst, Cardiac rhabdomyoma, Renal cell carcinoma, Renal angiomyolipoma, Pulmonary lymphangio...	OMIM:191100
Posttransplant Acute Limbic Encephalitis	Abnormal hippocampus morphology	ORPHA:163921
Mandibulofacial Dysostosis With Alopecia	Hydroureter, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Trismus	OMIM:616367
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Conotruncal defect	ORPHA:40366
Orofaciodigital Syndrome Type 1	Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Ab...	ORPHA:2750
Orofaciodigital Syndrome Xvi	Molar tooth sign on MRI, Retrognathia, Ventriculomegaly	OMIM:617563
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Death in infancy, Renal insufficiency, Polycystic liver disease, Proteinuria, Short stature, Panc...	OMIM:208500
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Pericardial effusion, Pancreatic cysts, Abnormal lymphatic vessel morphology...	ORPHA:464329
Dysostosis, Stanescu Type	Cerebral calcification, Short stature, Abnormal dental enamel morphology, Microcephaly, Hypoplasi...	ORPHA:1798
Andersen Cardiodysrhythmic Periodic Paralysis	Short stature, Short mandibular rami, Persistence of primary teeth, Hypoplasia of the maxilla, Mi...	OMIM:170390
8Q22.1 Microdeletion Syndrome	Hypoplasia of the maxilla, Cryptorchidism, Microcephaly	ORPHA:178303
Ververi-Brady Syndrome	Transposition of the great arteries	OMIM:617982
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Renal cyst, Cardiac rhabdomyoma, Renal cell ca...	OMIM:613254
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Hepatomegaly, Ureteral duplication, Otosclerosis, Cryptorchidism, Large pl...	ORPHA:116
Mody	Abnormality of the kidney, Hepatocellular adenoma, Renal cyst, Glycosuria, Nephropathy	ORPHA:552
Kleefstra Syndrome 1	Micropenis, Abnormal renal morphology, Hypospadias, Conotruncal defect	OMIM:610253
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Short stature	ORPHA:93945
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
7Q31 Microdeletion Syndrome	Hypoplasia of the maxilla, Postnatal growth retardation, Enuresis nocturna, Hypoplasia of the olf...	ORPHA:251061
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Peptic ulcer, Nephrolithiasis, Renal cyst, Hypercalciuria, ...	ORPHA:99880
17Q12 Microdeletion Syndrome	Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Short stature, ...	ORPHA:261265
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Hypoplasia of penis, Pachygyria, Polymicrogyria	ORPHA:2328
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Cerebellar vermis hypoplasia, Urinary incontinence, Large basal ganglia, C...	ORPHA:261537
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Complete atrioventricular canal defect, Micropenis, Tetralogy of Fallot	OMIM:617925
Distal Xq28 Microduplication Syndrome	Hypoplasia of the maxilla, Short stature, Microcephaly	ORPHA:293939
Cowden Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Hydrocele testis, Ovarian cyst...	OMIM:615108
Witteveen-Kolk Syndrome	Microretrognathia, Branchial fistula, Unilateral cryptorchidism, Hypospadias, Short stature, Micr...	OMIM:613406
Stickler Syndrome Type 1	Hypoplasia of the maxilla	ORPHA:90653
Cohen Syndrome	Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Microcephaly, Hypoplasia ...	ORPHA:193
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Peptic ulcer, Nephrolithiasis, Renal cyst, Hypercalciuria, ...	ORPHA:143
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Bifid ureter, Macrocephaly, Nephroblastoma, Spin...	ORPHA:500095
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Hydrocephalus, Hematuria, Multiple renal cysts, Renal ang...	ORPHA:538
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Short stature, Hypoplasia of the maxilla, Crypt...	ORPHA:950
Wilson Disease	Acute hepatic failure, Hepatomegaly, Hyperphosphaturia, Proteinuria, Elevated circulating asparta...	OMIM:277900
Hamamy Syndrome	Atrial septal defect, Complete atrioventricular canal defect	OMIM:611174
Cowden Syndrome 6	Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Hydrocele testis, Ovarian cyst...	OMIM:615109
Loeys-Dietz Syndrome 2	Aortic arch aneurysm, Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneur...	OMIM:610168
Ulbright-Hodes Syndrome	Abnormal penis morphology, High palate, Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:3404
Aarskog-Scott Syndrome	Short stature, Bilateral cryptorchidism, Cryptorchidism, Hypoplasia of the maxilla, Delayed puber...	OMIM:305400
1P36 Deletion Syndrome	Hepatic steatosis, Hypoplasia of penis, Hypospadias, Short stature, Abnormality of the kidney, Mi...	ORPHA:1606
Robinow Syndrome	Multicystic kidney dysplasia, Short stature, Webbed penis, Micrognathia, Persistence of primary t...	ORPHA:97360
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Relative macrocephaly, Cryptorchidism, Dysplastic corpus callosum, Thick corpus callosum, Increas...	OMIM:300967
Gorlin-Chaudhry-Moss Syndrome	Hypoplasia of the maxilla, Umbilical hernia, Short stature	ORPHA:2095
Meier-Gorlin Syndrome 3	Microretrognathia, Hypospadias, Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorch...	OMIM:613803
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, High, narrow palate, Rena...	ORPHA:3015
Jackson-Weiss Syndrome	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:1540
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, High palate, Hydronephrosis	ORPHA:1297
Multiple Osteochondromas	Cervical myelopathy, Urinary retention, Short stature	ORPHA:321
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Retrocerebellar cyst, Arachno...	OMIM:601812
Goldberg-Shprintzen Syndrome	Microcephaly, Hypoplasia of the maxilla, Hypoplasia of the brainstem, Hypoplasia of the corpus ca...	OMIM:609460
Cerebrocostomandibular Syndrome	Micrognathia, Carious teeth, Microcephaly, Ectopic kidney, Porencephalic cyst, Postnatal growth r...	OMIM:117650
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Renal cyst, Death in infancy	OMIM:614862
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Pearson Syndrome	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Proteinuria, Microcephaly, Post...	ORPHA:699
Marshall Syndrome	Cerebral calcification, Short stature, Micrognathia, Hypoplasia of the maxilla, Hypoplastic front...	ORPHA:560
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias...	ORPHA:353281
Angelman Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Secondary microcephaly, Cerebral cortical atrophy	OMIM:105830
Mowat-Wilson Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Urinary incontinence, Large basal ganglia, V...	ORPHA:2152
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Short stature, Cholangitis, Rhi...	OMIM:613610
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl...	OMIM:157800
Alveolar Echinococcosis	Abnormal pericardium morphology, Pancreatic cysts, Renal cyst, Abnormal bladder morphology, Hepat...	ORPHA:284
C Syndrome	Hepatomegaly, Short stature, Micrognathia, Microcephaly, Cryptorchidism, Renal cortical cysts	OMIM:211750
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Short stature, Unilateral renal agenesis, Micrognathia, Hypoplasia of the maxilla, Microcephaly, ...	OMIM:213980
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hypoplasia of the small intestine, Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Andersen-Tawil Syndrome	Abnormality of dental color, Short stature, Persistence of primary teeth, Hypoplasia of the maxil...	ORPHA:37553
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts, Agenesis of corpus callosum	OMIM:618733
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s...	ORPHA:79500
Cornelia De Lange Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal ...	ORPHA:199
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Short stature, Micrognathia, Hypoplasia of the maxilla, Dental maloccl...	OMIM:257850
Joubert Syndrome 38	Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia, Cerebellar vermis hypoplasia, Sho...	OMIM:619476
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Severe postnatal growth retardation, Microcephaly	ORPHA:2399
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypoplastic hippocampus	OMIM:617780
Mowat-Wilson Syndrome	Delayed eruption of teeth, Hypospadias, Short stature, Abnormality of the kidney, Microcephaly, A...	OMIM:235730
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Carious teeth, Dental malocclusion, Renal cyst	OMIM:615560
Atelosteogenesis Type I	Malrotation of colon, Multiple renal cysts, Cleft palate	ORPHA:1190
Dyskeratosis Congenita	Hepatomegaly, Cerebral calcification, Short stature, Hypoplasia of the maxilla, Carious teeth, Ur...	ORPHA:1775
C Syndrome	Death in infancy, Multicystic kidney dysplasia, Short stature, Microcephaly, Micrognathia, Crypto...	ORPHA:1308
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Patent ductus arteriosus, Arterial stenosis, Arteriovenous malforma...	ORPHA:1556
Atelosteogenesis, Type Iii	Hypoplasia of the maxilla, Malar flattening, Rhizomelia, Micrognathia	OMIM:108721
Branchioskeletogenital Syndrome	Mandibular prognathia, Penoscrotal hypospadias, Ureteral stenosis, Microcephaly, Hypoplasia of th...	ORPHA:1299
Von Hippel-Lindau Syndrome	Pancreatic cysts, Renal cell carcinoma, Hepatic hemangioma, Multiple renal cysts, Epididymal cyst	OMIM:193300
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Pancreatic cysts, Myocarditis, Cardiomyopathy, Renal cell c...	ORPHA:892
Meier-Gorlin Syndrome 1	Death in infancy, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Microcephaly, Birth le...	OMIM:224690
Nager Syndrome	Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Unilateral renal agenesis, Micrognathia	ORPHA:245
Chime Syndrome	Ventricular septal defect, Abnormality of the kidney, Tetralogy of Fallot, Transposition of the g...	ORPHA:3474
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Severe short stature, Hypospadias, Micrognathia, Hypoplasia of the maxilla, ...	ORPHA:2554
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Relative macrocephaly, Bilateral cryptorchidism, Cryptorchidism, Dysplastic corpus callosum, Chia...	ORPHA:466791
Temtamy Preaxial Brachydactyly Syndrome	Short stature, Micrognathia, Hypoplasia of the maxilla, Talon cusp, Growth delay	ORPHA:363417
Geroderma Osteodysplasticum	Mandibular prognathia, Severe short stature, Microcephaly, Hypoplasia of the maxilla, Malar flatt...	OMIM:231070
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles	OMIM:264270
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618569
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia	OMIM:601809
White-Kernohan Syndrome	Hydroureter, Dysplastic corpus callosum, Horseshoe kidney, Retrognathia, Hydronephrosis	OMIM:619426
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Hypoplasia of the maxilla, Biparietal narrowing	ORPHA:228396
Kagami-Ogata Syndrome	Hypoplasia of the maxilla, Hepatomegaly, Retrognathia, Micrognathia	OMIM:608149
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Atri...	OMIM:619534
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias...	ORPHA:353277
Acrofacial Dysostosis, Cincinnati Type	Short stature, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Retrognathia, Aplastic zygo...	OMIM:616462
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla	OMIM:167730
Brachytelephalangic Chondrodysplasia Punctata	Optic nerve hypoplasia, Proportionate short stature, Hypoplasia of the maxilla, Postnatal growth ...	ORPHA:79345
Cleft Lip/Palate	Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta...	ORPHA:199306
Joubert Syndrome 17	Molar tooth sign on MRI, Abnormal renal morphology	OMIM:614615
Axenfeld-Rieger Syndrome	Hypoplasia of the maxilla, Growth delay, Hypospadias	ORPHA:782
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Short stature, Ectopic kid...	ORPHA:857
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplastic aortic arch, Unilateral renal agenesis	ORPHA:457284
Rapp-Hodgkin Syndrome	Hypospadias, Short stature, Hypoplasia of the maxilla, Carious teeth, Taurodontia, Enamel hypoplasia	OMIM:129400
Nablus Mask-Like Facial Syndrome	Hypoplasia of the maxilla, Cryptorchidism, Secondary microcephaly, Micropenis, Retrognathia	OMIM:608156
Proteus Syndrome	Abnormal dental enamel morphology, Testicular neoplasm, Carious teeth, Enlarged polycystic ovarie...	ORPHA:744
Pallister-Killian Syndrome	Relative macrocephaly, Delayed eruption of teeth, Hypospadias, Rhizomelia, Micrognathia, Mesomeli...	OMIM:601803
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Weill-Marchesani Syndrome 2	Short stature, Proportionate short stature, Hypoplasia of the maxilla, Broad skull, Umbilical hernia	OMIM:608328
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypoplasia of the maxilla, Micropenis, Hypospadias	OMIM:106260
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Hypoplastic hippocampus, Abnormal cortical gyration, Mesiodens, Cerebellar hypoplasia, Macrocepha...	ORPHA:314647
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Renal cyst	OMIM:601539
Choreoacanthocytosis	Hepatomegaly, Caudate atrophy, Temporomandibular joint crepitus, Hypoplastic hippocampus, Elevate...	ORPHA:2388
Genitopatellar Syndrome	Delayed eruption of teeth, Multicystic kidney dysplasia, Microcephaly, Micrognathia, Cryptorchidi...	OMIM:606170
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Cryptorchidism, Hypoplasia of the maxilla, Umbilical hernia	ORPHA:1101
Osteoglophonic Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Severe short stature, Hypospadias, Rhizomelia, ...	OMIM:166250
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Abnormal penis morphology, Severe short stature...	ORPHA:2588
Hypomandibular Faciocranial Dysostosis	Hypoplasia of the maxilla, Malar flattening, Micrognathia	OMIM:241310
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated hepatic transaminase, Short stature, Abnormal midbrain morphology, Enuresis, Macrocephal...	ORPHA:293987
Myhre Syndrome	Mandibular prognathia, Short stature, Microcephaly, Hypoplasia of the maxilla, Cryptorchidism, Bi...	OMIM:139210
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Hypoplasia of the max...	OMIM:604292
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Cryptorchidism, Short stature	ORPHA:794
Distal Deletion 19P	Hypoplasia of the maxilla, Umbilical hernia	ORPHA:96129
Spondylocarpotarsal Synostosis Syndrome	Failure of eruption of permanent teeth, Enamel hypoplasia, Disproportionate short-trunk short sta...	OMIM:272460
Ablepharon Macrostomia Syndrome	Hypoplasia of penis, Hypoplasia of the maxilla, Growth delay, Hypoplasia of the zygomatic bone, U...	ORPHA:920
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Short stature, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of...	ORPHA:50814
Multicentric Osteolysis, Nodulosis, And Arthropathy	Hypoplasia of the maxilla, Short stature, Delayed eruption of teeth, Micrognathia	OMIM:259600
Bartsocas-Papas Syndrome 1	Ectopic kidney, Bilateral cryptorchidism, Hypoplasia of the maxilla, Micrognathia, Intrauterine g...	OMIM:263650
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Decreased testicular size	ORPHA:3044
Cleft Velum	Hypoplasia of the maxilla	ORPHA:99772
Weill-Marchesani Syndrome 1	Hypoplasia of the maxilla, Broad skull, Short stature, Proportionate short stature	OMIM:277600
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypospadias, Bilateral cryptorchidism, Hypoplas...	OMIM:211380
Gaucher Disease, Type Ii	Double aortic arch	OMIM:230900
Beckwith-Wiedemann Syndrome	Hepatomegaly, Nephroblastoma, Cryptorchidism, Vesicoureteral reflux, Renal cortical cysts, Nephro...	OMIM:130650
Hypohidrotic Ectodermal Dysplasia	Hypoplasia of the maxilla, Nephrotic syndrome, Sinusitis	ORPHA:238468
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Crypto...	OMIM:209885
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ...	OMIM:612474
Van Den Ende-Gupta Syndrome	Hypoplasia of the maxilla, Malar flattening, Dilatation of the renal pelvis, Micrognathia	OMIM:600920
Restrictive Dermopathy	Ureteral duplication, Hypospadias, Dextrocardia, Patent ductus arteriosus, Ascending tubular aort...	ORPHA:1662
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Right aortic arch, Ventricular septal defect	ORPHA:513456
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Short stature, Bilateral cryptorchidism, Hypoplasia of the maxilla, Nephro...	OMIM:617402
Carpenter Syndrome 2	Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Transposition of the great arteri...	OMIM:614976
Cleidocranial Dysplasia 2	Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth	OMIM:620099
Primrose Syndrome	Cerebral calcification, Short stature, Bilateral cryptorchidism, Cryptorchidism, Hypoplasia of th...	OMIM:259050
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Short stature, Hypoplasia of the maxilla, Super...	OMIM:614188
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Hypoplasia of the maxilla, Taurodontia	OMIM:305100
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Malar flattening	OMIM:122880
Stickler Syndrome	Short stature, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Advanc...	ORPHA:828
Pmm2-Cdg	Elevated hepatic transaminase, Mandibular prognathia, Cerebellar vermis hypoplasia, Proteinuria, ...	ORPHA:79318
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Malar flattening, Cleft of chin, Short stature	OMIM:101400
Axenfeld-Rieger Syndrome, Type 1	Hypoplasia of the maxilla, Hypospadias	OMIM:180500
Singleton-Merten Syndrome 1	Short stature, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Hypoplasia of the toot...	OMIM:182250
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Disproportionate short-trunk short stature	OMIM:300106
Bardet-Biedl Syndrome 14	Renal insufficiency	OMIM:615991
Rhyns Syndrome	Renal insufficiency, Chronic kidney disease, Nephronophthisis	OMIM:602152

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tmem67

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tmem67.

No publications found that use IMPC mice or data for Tmem67.

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MGI Allele	Allele Type	Produced
Tmem67^em1(IMPC)J	Exon Deletion	Mice
Tmem67^{tm46735(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Tmem67 MGI:1923928

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

Electroretinography 3

Gross Morphology Embryo E9.5

Eye Morphology

Electrocardiogram (ECG)

Auditory Brain Stem Response

Human diseases caused by Tmem67 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data