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Gene: Dnaaf4 MGI:1914935

Gene Summary

Name:

dynein axonemal assembly factor 4

Synonyms:

1700010I24Rik, Dyx1c1, EKN1, b2b811Clo

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
impaired pupillary reflex	Dnaaf4^{tm1b(EUCOMM)Hmgu}	HET	Early adult	6.15×10^-08
hyperactivity	Dnaaf4^{tm1b(EUCOMM)Hmgu}	HET	Early adult	4.55×10^-05
trunk curl	Dnaaf4^{tm1b(EUCOMM)Hmgu}	HET	Early adult	4.69×10^-05
preweaning lethality, incomplete penetrance	Dnaaf4^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Brain	Section images	heterozygote	100% (2 of 2)
Heart	Section images	heterozygote	100% (2 of 2)
Kidney	Section images	heterozygote	100% (2 of 2)
Lung	Section images	heterozygote	100% (2 of 2)
Spinal cord	Section images	heterozygote	50% (1 of 2)
Spleen	Section images	heterozygote	100% (2 of 2)
Submandibular gland	Section images	heterozygote	50% (1 of 2)
Testis	Section images	heterozygote	50% (1 of 2)
Thyroid gland	Section images	heterozygote	50% (1 of 2)
Trachea	Section images	heterozygote	100% (2 of 2)
Uterus	Section images	heterozygote	50% (1 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Epididymis	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	Not available
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	Not available
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Thalamus	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Urinary bladder	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
Vesicular gland	N/A	heterozygote	Not available
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	homozygote	0.0% (0 of 1)
Dorsal root ganglion	N/A	heterozygote	0.0% (0 of 2)
Dorsal root ganglion	N/A	homozygote	0.0% (0 of 1)
Ear	N/A	heterozygote	0.0% (0 of 2)
Ear	N/A	homozygote	0.0% (0 of 1)
Embryo	N/A	heterozygote	0.0% (0 of 2)
Embryo	N/A	homozygote	0.0% (0 of 1)
Eye	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	homozygote	0.0% (0 of 1)
Footplate	N/A	heterozygote	0.0% (0 of 2)
Footplate	N/A	homozygote	0.0% (0 of 1)
Forebrain	N/A	heterozygote	0.0% (0 of 2)
Forebrain	N/A	homozygote	0.0% (0 of 1)
Forelimb	N/A	heterozygote	0.0% (0 of 2)
Forelimb	N/A	homozygote	0.0% (0 of 1)
Fronto-nasal process	N/A	heterozygote	0.0% (0 of 2)
Fronto-nasal process	N/A	homozygote	0.0% (0 of 1)
Handplate	N/A	heterozygote	0.0% (0 of 2)
Handplate	N/A	homozygote	0.0% (0 of 1)
Head	N/A	heterozygote	0.0% (0 of 2)
Head	N/A	homozygote	0.0% (0 of 1)
Heart	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	homozygote	0.0% (0 of 1)
Hindbrain	N/A	heterozygote	0.0% (0 of 2)
Hindbrain	N/A	homozygote	0.0% (0 of 1)
Hindlimb	N/A	heterozygote	0.0% (0 of 2)
Hindlimb	N/A	homozygote	0.0% (0 of 1)
Liver	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	homozygote	0.0% (0 of 1)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	homozygote	0.0% (0 of 1)
Mandibular process	N/A	heterozygote	0.0% (0 of 2)
Mandibular process	N/A	homozygote	0.0% (0 of 1)
Maxillary process	N/A	heterozygote	0.0% (0 of 2)
Maxillary process	N/A	homozygote	0.0% (0 of 1)
Midbrain	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	homozygote	0.0% (0 of 1)
Nose	N/A	heterozygote	0.0% (0 of 2)
Nose	N/A	homozygote	0.0% (0 of 1)
Oral cavity	N/A	heterozygote	0.0% (0 of 2)
Oral cavity	N/A	homozygote	0.0% (0 of 1)
Skin	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	homozygote	0.0% (0 of 1)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	homozygote	0.0% (0 of 1)
Tail somite	N/A	heterozygote	0.0% (0 of 2)
Tail somite	N/A	homozygote	0.0% (0 of 1)
Tail	N/A	heterozygote	0.0% (0 of 2)
Tail	N/A	homozygote	0.0% (0 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
midbrain	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
submandibular gland	0.0%
testis	0.0%
thalamus	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
urinary bladder
uterus	0.0%
vascular system	0.0%
vesicular gland	Unavailable
white adipose tissue	0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	0.0%
dorsal root ganglion	Ambiguous
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
fronto-nasal process	Ambiguous
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
nose	Ambiguous
oral cavity	0.0%
skin	0.0%
spinal cord	Ambiguous
tail	0.0%
tail somite group	0.0%

10 Images

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Auditory Brain Stem Response

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

8 Images

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Electroretinography 2

Rod and cone PDF

1 Images

View images

Human diseases caused by Dnaaf4 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 Dnaaf4 (3 diseases)
Human diseases predicted to be associated with Dnaaf4 (1363 diseases)

The table below shows human diseases associated to Dnaaf4 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Productive cough, ...	OMIM:615482
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Asplenia, Neonatal respiratory distress, Abnormal atrial arrangement, Res...	ORPHA:244
Dyslexia, Susceptibility To, 1		OMIM:127700

The table below shows human diseases predicted to be associated to Dnaaf4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Ciliary Dyskinesia, Primary, 40	Left Isomerism, Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced r...	OMIM:618300
Ciliary Dyskinesia, Primary, 7	Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric...	OMIM:611884
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Ciliary Dyskinesia, Primary, 23	Neonatal respiratory distress, Productive cough, Situs inversus totalis, Recurrent pneumonia, Bro...	OMIM:615451
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Productive cough, ...	OMIM:615482
Ciliary Dyskinesia, Primary, 3	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie...	OMIM:608644
Ciliary Dyskinesia, Primary, 24	Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Bronchiecta...	OMIM:615481
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie...	OMIM:615504
Ciliary Dyskinesia, Primary, 14	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Cough, W...	OMIM:613807
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextro...	OMIM:306955
Ciliary Dyskinesia, Primary, 18	Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Immotile cil...	OMIM:614874
Ciliary Dyskinesia, Primary, 28	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie...	OMIM:615505
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis...	OMIM:616037
Ciliary Dyskinesia, Primary, 39	Dextrocardia, Double outlet right ventricle, Bronchiectasis, Decreased nasal nitric oxide, Cough,...	OMIM:618254
Ciliary Dyskinesia, Primary, 26	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie...	OMIM:615500
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Tricuspid Atresia	Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarctation of ao...	ORPHA:1209
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Asplenia, Neonatal respiratory distress, Abnormal atrial arrangement, Res...	ORPHA:244
Schizophrenia 15	Hyperactivity	OMIM:613950
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Ciliary Dyskinesia, Primary, 17	Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Chronic r...	OMIM:614679
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo...	OMIM:616749
Ciliary Dyskinesia, Primary, 32	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ...	OMIM:616481
Dystonia 31	Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Dysphagia, Abnormal posturing, ...	OMIM:619565
Gilles De La Tourette Syndrome	Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,...	OMIM:137580
Ciliary Dyskinesia, Primary, 16	Situs inversus totalis, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Ciliary dysk...	OMIM:614017
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Aspl...	OMIM:605376
Ciliary Dyskinesia, Primary, 36, X-Linked	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie...	OMIM:300991
Heterotaxy, Visceral, 5, Autosomal	Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atres...	OMIM:270100
Ciliary Dyskinesia, Primary, 13	Situs inversus totalis, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Ciliary dyskinesia, ...	OMIM:613193
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Situs inversus tot...	OMIM:615444
Ciliary Dyskinesia, Primary, 38	Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Bronchiect...	OMIM:618063
Dextrocardia	Congenital hip dislocation, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnorma...	ORPHA:1666
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Bronchiectasis, Decreased nasal...	OMIM:612444
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Esophageal atresia, Trac...	OMIM:314390
Ciliary Dyskinesia, Primary, 37	Dextrocardia, Rhinorrhea, Situs inversus totalis, Wheezing, Bronchiectasis, Right aortic arch, Ch...	OMIM:617577
16P13.11 Microduplication Syndrome	Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polydactyly, Transposition ...	ORPHA:261243
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Congenital Pseudoarthrosis Of The Clavicle	Situs inversus totalis, Congenital pseudoarthrosis of the clavicle, Cervical ribs, Dextrocardia	ORPHA:66630
Ciliary Dyskinesia, Primary, 19	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Immotile cilia, Rhiniti...	OMIM:614935
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Sinusitis, Dextrocardia, Situs inversus t...	OMIM:606763
Ciliary Dyskinesia, Primary, 12	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ...	OMIM:612650
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali...	OMIM:615415
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Heterotaxy, Visceral, 12, Autosomal	Left Isomerism, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery...	OMIM:619702
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Recurren...	OMIM:608647
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Heterotaxy, Asplenia	OMIM:601086
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia, Asplenia	OMIM:618948
Genitopalatocardiac Syndrome	Ventricular septal defect, Cleft palate, Right aortic arch, Transposition of the great arteries, ...	OMIM:231060
Ciliary Dyskinesia, Primary, 10	Situs inversus totalis, Ciliary dyskinesia, Chronic sinusitis, Recurrent sinusitis	OMIM:612518
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Decreased nasal nitric ...	OMIM:620197
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Cough, W...	OMIM:613808
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Toe syndactyly, Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Intestinal mal...	OMIM:619657
Ciliary Dyskinesia, Primary, 35	Neonatal respiratory distress, Productive cough, Situs inversus totalis, Recurrent pneumonia, Bro...	OMIM:617092
Nephronophthisis 16	Situs inversus totalis, Patent ductus arteriosus, Cholestasis, Periportal fibrosis, Aortic valve ...	OMIM:615382
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Thiamine...	OMIM:249270
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Abnormal coronary artery morphology, Ventr...	ORPHA:860
Hypoglossia With Situs Inversus	Respiratory distress, Situs inversus totalis, Asplenia, Upper airway obstruction, High palate, Po...	OMIM:612776
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Dextrocardia, Situs inversus totalis, Decreased nasal nitric oxide, Abdominal situs inversus, Cou...	OMIM:619607
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ...	OMIM:217095
Meacham Syndrome	Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Atrial septal defect, Neonatal death...	OMIM:608978
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a...	OMIM:620203
Meacham Syndrome	Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter...	ORPHA:3097
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:620032
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Bardet-Biedl Syndrome 8	Situs inversus totalis, Postaxial polydactyly	OMIM:615985
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Decreased ...	OMIM:619608
Scimitar Syndrome	Respiratory distress, Abnormal lung morphology, Pulmonary artery hypoplasia, Cough, Atrial septal...	ORPHA:185
Developmental And Epileptic Encephalopathy 102	Atrial septal defect, Hepatomegaly, Gastroesophageal reflux, Situs inversus totalis	OMIM:619881
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Pneumonia, Situs inversus totalis, Atelectasis, Asplenia, Bronchiect...	OMIM:244400
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Cryptorchidism, Patent ductus arteriosus, 2-3 toe syndactyly, Clubbing of toes,...	ORPHA:3304
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi...	OMIM:208540
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ...	OMIM:619343
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Marfanoid Habitus With Situs Inversus	Hyperextensibility of the finger joints, Arachnodactyly, Situs inversus totalis, Mitral valve pro...	OMIM:609008
Double Outlet Right Ventricle	Hypoparathyroidism, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palat...	ORPHA:3426
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Mirror Movements 3	Situs inversus totalis	OMIM:616059
Partial Atrioventricular Septal Defect	Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu...	ORPHA:1330
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Ventricular septal defect, Dextrocardia, Cryptorchidism, Long fingers, Cleft p...	OMIM:614294
Nephronophthisis 14	Situs inversus totalis	OMIM:614844
Ethanolaminosis	Death in infancy, Cardiomegaly	OMIM:227150
Congenital Heart Defects, Multiple Types, 9	Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r...	OMIM:620294
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Overlapping fingers, Cardiomegaly, Narrow palate, Fe...	OMIM:617022
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Fetal Trimethadione Syndrome	Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect...	ORPHA:1913
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Intestinal malrotation, Dextrocardia, Missing ribs, Camptodactyly of finger, Respir...	ORPHA:1759
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral artery hypoplasia, Anal stenosis, Unilateral vertebral artery hypoplasia, Dextrocardia,...	OMIM:613686
Meckel Syndrome, Type 7	Portal hypertension, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Biliary ...	OMIM:267010
Intellectual Developmental Disorder, Autosomal Dominant 33	Hyperactivity, Chorioretinal degeneration	OMIM:616311
Diabetic Embryopathy	Ventricular septal defect, Cryptorchidism, Abnormality of the pancreas, Cleft palate, Abnormal ao...	ORPHA:1926
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Bronchiectasis, Decreased nasal nitric oxide, Cili...	OMIM:615872
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Death in infancy, Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmon...	OMIM:618845
Ciliary Dyskinesia, Primary, 11	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:612649
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Sandal gap, 2-3 toe syndactyl...	ORPHA:477817
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Ciliary Dyskinesia, Primary, 46	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni...	OMIM:619436
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ...	OMIM:617021
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu...	ORPHA:99050
Ferguson-Bonni Neurodevelopmental Syndrome	High palate, Patent foramen ovale, Coronary-pulmonary artery fistula	OMIM:619699
Aminopterin/Methotrexate Embryofetopathy	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Situs inversus tot...	ORPHA:1908
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Hydrocele t...	OMIM:601927
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir...	OMIM:616726
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect, Howell-Jolly bodies, Portal inflammation, Left superior vena cava drai...	OMIM:613759
Short Stature-Wormian Bones-Dextrocardia Syndrome	Dextrocardia, Camptodactyly of finger, Cryptorchidism, Patent ductus arteriosus, High palate, Ant...	ORPHA:2863
22Q11.2 Duplication Syndrome	Ventricular septal defect, Cleft palate, Hypoplastic left heart, Transposition of the great arter...	ORPHA:1727
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough	OMIM:615434
Intellectual Developmental Disorder, Autosomal Dominant 66	Arachnodactyly, Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great a...	OMIM:619910
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coronary artery fistula, Neo...	OMIM:620024
Agnathia-Otocephaly Complex	Respiratory distress, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft pala...	OMIM:202650
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Respiratory distress, Pulmonary edema, Transient ischemic ...	OMIM:115197
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, High palate, Atrial septal defect, Clinodactyl...	OMIM:201000
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Death in infancy, Muscular ventricular septal defect, Di...	OMIM:619371
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou...	ORPHA:99125
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Dextrocardia, Secundum at...	ORPHA:2257
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Ventricular septal defect, Respiratory insufficiency, Respirato...	OMIM:253300
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Dextrocardia, Mesoaxial hand polydactyly, Situs i...	OMIM:615994
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Ciliary Dyskinesia, Primary, 34	Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Bronchiectasis, Dec...	OMIM:617091
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Cryptorchidism, Macroglossia, Transposition of the great arteries, Clinodactyly, Patent foramen o...	OMIM:616789
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal rib morphology, Abnor...	ORPHA:1354
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Transposition of the gr...	ORPHA:1461
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Proximal placement of thumb, Tapered finger, Cryptorchidism, Patent ductus ...	ORPHA:251071
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Sandal gap, Short toe, Perimembranous ventricular septal defect, High palate, T...	OMIM:617877
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Rib fusion, Short ribs	OMIM:173800
Nephronophthisis 2	Situs inversus totalis, Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia, Enl...	OMIM:602088
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Death in infancy, Ventricular septal defect, Jaundice, Epiphyseal stippling, Glosso...	OMIM:614876
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Death in infancy, Rocker bottom foot, Tapered finger, Pericardial effusion, Multiple muscular ven...	OMIM:620070
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Mesenteric cyst, Recurrent respiratory infections, Ventricular septal defect, Intestina...	OMIM:618316
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Hydrocele testis, Muscular ventricular septal defect, Brachydactyly, Adducted thumb	OMIM:620062
Ritscher-Schinzel Syndrome 1	Syndactyly, Ventricular septal defect, Decreased response to growth hormone stimulation test, Mis...	OMIM:220210
Coronary Artery Dissection, Spontaneous	Cystic medial necrosis, Coronary artery dissection	OMIM:122455
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Overriding aorta, Abnormal aortic arch morphology, Arteriovenous malformation, Abnormal hip bone ...	ORPHA:1110
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Atrial septal defec...	ORPHA:2255
Total Anomalous Pulmonary Venous Return 1	Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia, Pulmonar...	OMIM:106700
Ciliary Dyskinesia, Primary, 6	Recurrent respiratory infections, Sinusitis, Abnormal ciliary motility, Recurrent sinusitis, Cili...	OMIM:610852
Heart Defects, Congenital, And Other Congenital Anomalies	Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Patent foramen ovale, Hypoplastic t...	OMIM:600001
Ciliary Dyskinesia, Primary, 45	Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis	OMIM:618801
Birk-Aharoni Syndrome	Cryptorchidism, Muscular ventricular septal defect, Macrocytic anemia	OMIM:620071
Sandestig-Stefanova Syndrome	Rocker bottom foot, Muscular ventricular septal defect, Respiratory failure, Perimembranous ventr...	OMIM:618804
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Dextrocardia, Situs inversus totalis, Jaundice, Hepatic cysts	OMIM:613095
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Pagod Syndrome	Death in infancy, Situs inversus totalis, Abnormality of the spleen, Abnormal rib morphology, Pul...	ORPHA:991
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Clubbing, Hypoxemia, Atrial septal def...	ORPHA:439
Weiss-Kruszka Syndrome	Ventricular septal defect, Bicuspid aortic valve, Proximal placement of thumb, Dextrotranspositio...	OMIM:618619
Feingold Syndrome Type 2	Toe syndactyly, Jejunal atresia, Ventricular septal defect, Short thumb, Short middle phalanx of ...	ORPHA:391646
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	High palate, Brachydactyly, Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger, Brachydac...	ORPHA:1937
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Patent ductus arteriosus, Respiratory insufficiency, Coarctation of aorta, Bilateral lung agenesi...	OMIM:601612
Retinitis Pigmentosa 6	Immotile cilia, Recurrent respiratory infections	OMIM:312612
Developmental And Epileptic Encephalopathy 66	Ventricular septal defect, Dextrocardia, Cryptorchidism, Clinodactyly of the 5th finger, Neutrope...	OMIM:618067
Ellis Van Creveld Syndrome	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,...	ORPHA:289
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Feingold Syndrome 2	Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl...	OMIM:614326
Ververi-Brady Syndrome	Clinodactyly of the 5th finger, High palate, Transposition of the great arteries, Metaphyseal irr...	OMIM:617982
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Agang...	ORPHA:210122
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Clinodactyly of the 5th fing...	OMIM:179613
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Overlapping toe, Patent ductus arteriosus, Muscular ventricular septal defect, Velopharyngeal ins...	ORPHA:363444
Joubert Syndrome	Aganglionic megacolon, Apnea, Episodic tachypnea, Situs inversus totalis, Hand polydactyly, Foot ...	ORPHA:475
Whim Syndrome 2	Tetralogy of Fallot, Chronic neutropenia	OMIM:619407
Cardiac-Urogenital Syndrome	Scimitar anomaly, Atrial septal defect, Mesocardia, Accessory spleen, Coronary sinus enlargement,...	OMIM:618280
Cherubism	Macular scar, Marcus Gunn pupil, Optic neuropathy	OMIM:118400
Adams-Oliver Syndrome 4	Ventricular septal defect, Patent ductus arteriosus, Short toe, Absent middle phalanx of the 3rd ...	OMIM:615297
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Situs inversus totalis, Microglossia, Respiratory distress	ORPHA:990
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Cryptorchidism, Cleft palate, Respiratory insufficiency, Abnormal aort...	ORPHA:1166
Microphthalmia, Syndromic 12	Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Hypoplastic left atrium, Cleft...	OMIM:615524
Familial Aortic Dissection	Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis...	ORPHA:229
Aortic Arch Interruption	Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus,...	ORPHA:2299
Tetralogy Of Fallot	Clinodactyly of the 5th finger, Tetralogy of Fallot	OMIM:187500
Mesoaxial Hexadactyly And Cardiac Malformation	Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Pulmonic stenosis, Atrial ...	OMIM:249670
Catel-Manzke Syndrome	Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Radial deviation of the 2n...	ORPHA:1388
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Catel-Manzke Syndrome	Short humerus, Short metacarpal, Overriding aorta, Ventricular septal defect, Dextrocardia, Short...	OMIM:616145
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect...	OMIM:264480
Sotos Syndrome	Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Muscular ventricular se...	OMIM:117550
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules	Recurrent sinopulmonary infections, Ciliary dyskinesia	OMIM:215520
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Houge-Janssens Syndrome 3	Atrial septal defect, Muscular ventricular septal defect, High palate	OMIM:618354
Apert Syndrome	Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad distal phalanx of the thumb, ...	OMIM:101200
Nemaline Myopathy 9	High palate, Ventricular septal defect, Cleft palate, Respiratory insufficiency	OMIM:615731
Thoracoabdominal Syndrome	Patent ductus arteriosus, Cleft palate, Pulmonary hypoplasia, Transposition of the great arteries...	OMIM:313850
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Feingold Syndrome Type 1	Toe syndactyly, Jejunal atresia, Tricuspid stenosis, Short middle phalanx of the 5th finger, Shor...	ORPHA:391641
Noonan Syndrome 12	11 pairs of ribs, Ventricular septal defect, Decreased response to growth hormone stimulation tes...	OMIM:618624
Thakker-Donnai Syndrome	Ventricular septal defect, Tracheoesophageal fistula, Rectovaginal fistula, Transposition of the ...	ORPHA:1780
Mosaic Trisomy 9	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Intestinal malrotation,...	ORPHA:99776
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac...	OMIM:217085
Combined Oxidative Phosphorylation Deficiency 8	Death in infancy, Cardiomegaly, Pulmonary hypoplasia, Death in childhood, Neonatal death, Hypertr...	OMIM:614096
Ciliary Dyskinesia With Defective Radial Spokes	Sinusitis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhinitis, Ciliary dysk...	OMIM:242670
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis	ORPHA:306550
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Cardiac Valvular Dysplasia 1	Atrial septal defect, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Val...	OMIM:212093
Johanson-Blizzard Syndrome	Death in infancy, Dextrocardia, Malabsorption, Abnormality of the pancreas, Anteriorly placed anu...	ORPHA:2315
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Czeizel-Losonci Syndrome	Hitchhiker thumb, Dextrocardia, 2-3 finger syndactyly, Tracheoesophageal fistula, Clubbing of toe...	ORPHA:2437
Holt-Oram Syndrome	Finger syndactyly, Ventricular septal defect, Down-sloping shoulders, Absent thumb, Abnormality o...	ORPHA:392
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Alg12-Cdg	Recurrent respiratory infections, Sandal gap, Intestinal malrotation, Proximal placement of thumb...	ORPHA:79324
Ciliary Dyskinesia, Primary, 43	Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br...	OMIM:618699
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Overlapping toe, Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, ...	OMIM:614262
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency, Hypoplastic left ...	OMIM:616276
8P23.1 Duplication Syndrome	Toe syndactyly, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	ORPHA:251076
Fetal Minoxidil Syndrome	Clinodactyly of the 5th finger, Cryptorchidism, Ventricular septal defect	ORPHA:1918
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Posterior rib fu...	OMIM:265380
14Q24.1Q24.3 Microdeletion Syndrome	Brachydactyly, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Short thumb, Ab...	ORPHA:401935
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Asplenia, Cryptorchidism, Cleft palate, Abdominal situs inversus, Pulm...	OMIM:619123
Renpenning Syndrome	Abnormal thumb morphology, High, narrow palate, Abnormal rib morphology, Cleft palate, Heterotaxy...	ORPHA:3242
Mohr-Tranebjaerg Syndrome	Tremor, Abnormal posturing, Dystonia, Dysphagia	OMIM:304700
Transketolase Deficiency	Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu...	ORPHA:488618
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Dextrocardia, Supernumerary nipple, Cryptorchidism, Coarctation of aorta, High palate, Atrioventr...	OMIM:618929
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia	OMIM:301107
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Tracheomalacia, Short thum...	OMIM:612561
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Tremor, Hyperactivity, Limb dystonia, Aggressive behavior	OMIM:620270
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Generalized dystonia, Opisthotonus, Pigmentary retinopathy, Attention deficit ...	ORPHA:216866
Adams-Oliver Syndrome 6	Syndactyly, Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Hepat...	OMIM:616589
Chime Syndrome	Ventricular septal defect, Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hi...	ORPHA:3474
Intellectual Developmental Disorder, Autosomal Recessive 73	Clinodactyly of the 5th finger, Patent ductus arteriosus, Ventricular septal defect	OMIM:619717
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Cleft pa...	OMIM:620210
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Marden-Walker Syndrome	Arachnodactyly, Dextrocardia, High, narrow palate, Pyloric stenosis, Cryptorchidism, Cleft palate...	OMIM:248700
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Recurrent respiratory infections, Ciliary dyskinesia	ORPHA:1882
Bardet-Biedl Syndrome 19	Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventricular canal defect, Pos...	OMIM:615996
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Proximal 16P11.2 Microdeletion Syndrome	Dextrocardia, Pyloric stenosis, Rib fusion, Cleft palate, Abnormal heart morphology, Hand polydac...	ORPHA:261197
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, High palate, Atrial septal defect, Tetralogy ...	OMIM:612946
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive mannerisms	OMIM:619470
Microcephaly-Cardiomyopathy Syndrome	Sandal gap, Ventricular septal defect, High, narrow palate, Dilated cardiomyopathy, Clinodactyly ...	ORPHA:2515
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Dilated cardiomyopathy, Myocardial fibrosis, Respiratory insufficiency, Transposition of the grea...	OMIM:253800
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Aplasia/Hypoplasia of the thumb, Overriding aorta, Hypoplasia of the ulna, Mi...	ORPHA:3186
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, High, narrow palate, Abnormal lung lobation, Cleft palate, Abnormal ao...	ORPHA:2516
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
14Q11.2 Microdeletion Syndrome	Toe syndactyly, Ventricular septal defect, Patent ductus arteriosus, High palate, Toe clinodactyly	ORPHA:261120
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation	OMIM:619970
Down Syndrome	Short palm, Hypoplastic iliac wing, Atrial septal defect, Atrioventricular canal defect, Patent f...	OMIM:190685
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding, Venous malformation	OMIM:600195
Mmep Syndrome	Cryptorchidism, Split foot, Ventricular septal defect, Triphalangeal thumb	ORPHA:3434
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Tapered finger, Short 3rd toe, Short thumb, Muscular ventricular septal defect, Split hand, Short...	OMIM:618569
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Cranioacrofacial Syndrome	Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Intellectual Developmental Disorder, X-Linked 101	Hyperactivity, Optic atrophy	OMIM:300928
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Cleft palate, Anteriorly placed anus, Colonic atresi...	OMIM:309801
Marden-Walker Syndrome	Ventricular septal defect, Dextrocardia, Arachnodactyly, Camptodactyly of finger, Situs inversus ...	ORPHA:2461
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Osteolysis involving bones of the upper limbs, ...	ORPHA:371428
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Congenital Tracheomalacia	Apnea, Cardiomegaly, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Atrial septal defect,...	ORPHA:95430
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Thrombocytopenia, Patent ductus a...	OMIM:277380
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Maternal Phenylketonuria	Ventricular septal defect, Bifid distal phalanx of the thumb, Esophageal atresia, Clinodactyly, C...	ORPHA:2209
Distal Duplication 5Q	Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Absent thumb, Cryptorchidism, Hy...	ORPHA:96097
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Preaxial polydactyly, Femoral bowing, Gastroesophageal reflux, D...	OMIM:210710
Prune Belly Syndrome	Recurrent respiratory infections, Congenital hip dislocation, Ventricular septal defect, Intestin...	ORPHA:2970
Meckel Syndrome	Accessory spleen, Bowing of the long bones, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue...	ORPHA:564
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Bicuspid aortic valve, Sandal gap, Aortic root aneurysm, High palate, ...	OMIM:616652
Simpson-Golabi-Behmel Syndrome, Type 1	Abnormal lung lobation, Narrow greater sciatic notch, Short palm, Hepatoblastoma, Atrial septal d...	OMIM:312870
8P Inverted Duplication/Deletion Syndrome	Dextrocardia, High, narrow palate, Cryptorchidism, Long fingers, Hip dislocation, Abnormal heart ...	ORPHA:96092
Ventricular Septal Defect 3	Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Abnormal heart morphology, Respira...	OMIM:276950
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palate, Tracheoesoph...	OMIM:619227
Carpenter Syndrome 2	Bilateral cryptorchidism, High, narrow palate, Preaxial polydactyly, Coxa vara, Cutaneous finger ...	OMIM:614976
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hepatomegaly, Ventricular septal defect, Rocker bottom foot, Coxa valga, Cryptorchidism, Postaxia...	OMIM:301056
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Dilatation of the cer...	ORPHA:615
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Dysph...	OMIM:128100
Microphthalmia, Syndromic 9	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Agenesis of pulmonary vessel...	OMIM:601186
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 2nd finger, Ventricular septal defect, Broad hallux, Sandal gap, Secundum atrial septal def...	OMIM:600987
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ...	OMIM:619534
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Bicuspid aortic valve, Proximal placement of thumb, Abnormal thumb morphology, ...	ORPHA:1120
Grange Syndrome	Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Short palm	ORPHA:79094
Diets-Jongmans Syndrome	Ventricular septal defect, Cryptorchidism, Heterotaxy, Interrupted inferior vena cava with azygou...	OMIM:618846
Von Willebrand Disease	Venous insufficiency, Deviation of finger, Abnormal mitral valve morphology	ORPHA:903
Li-Campeau Syndrome	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Gastrointestinal dysmotility...	OMIM:619189
Dilated Cardiomyopathy With Ataxia	Bilateral cryptorchidism, Microvesicular hepatic steatosis, Muscular ventricular septal defect, D...	ORPHA:66634
Renpenning Syndrome 1	Ventricular septal defect, Situs inversus totalis, Cleft palate, Death in childhood, Camptodactyl...	OMIM:309500
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Neonatal respiratory distress, Hydrocephalus	OMIM:266100
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Neonatal respiratory distress, Bicuspid aortic valve, Intestinal malrotation...	ORPHA:2847
Beemer Lethal Malformation Syndrome	Hydrocephalus, Thrombocytopenia	OMIM:209970
Morm Syndrome	Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior	ORPHA:75858
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Hepatomegaly, Ventricular septal defect, Broad 2nd toe, Pulmonary artery stenosis, Clinodactyly, ...	OMIM:280000
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val...	ORPHA:3405
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Timothy Syndrome	Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Cutaneo...	OMIM:601005
Charge Syndrome	Decreased response to growth hormone stimulation test, Secundum atrial septal defect, Gonadotropi...	OMIM:214800
Dietary Iron Overload Disease	Hepatic steatosis, Hepatomegaly, Viral hepatitis, Micronodular cirrhosis, Esophageal carcinoma, A...	ORPHA:139507
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonary sequestration	OMIM:618330
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Fixed Subaortic Stenosis	Orthopnea, Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Dyspnea, Patent ductus...	ORPHA:3092
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Respiratory insufficiency	ORPHA:1909
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Ventricular septal defect, Apnea, Respiratory failure, Hypertrophic cardiomyopathy	OMIM:616277
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Isolated Cleft Lip	Situs inversus totalis, Velopharyngeal insufficiency	ORPHA:199302
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Jaundice, Thromb...	ORPHA:290
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Ventricular septal defect, Rocker bottom foot, Cryptorchidism,...	OMIM:256520
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Splenomegaly, Dyspnea, Vacuolated lymphocytes, Abnormal cardiomyocyte morphology, C...	ORPHA:565612
Kallmann Syndrome-Heart Disease Syndrome	Anomalous origin of left coronary artery from the pulmonary artery, Bilateral cryptorchidism, Mid...	ORPHA:2326
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Thrombocytopenia	OMIM:166990
Wolcott-Rallison Syndrome	Hepatomegaly, Metaphyseal dysplasia, Jaundice, Iron deficiency anemia, Abnormality of the liver, ...	ORPHA:1667
Joubert Syndrome With Ocular Defect	Aganglionic megacolon, Dextrocardia, Apnea, Cleft palate, Hand polydactyly, Foot polydactyly, Abn...	ORPHA:220493
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Iliac crest serration, Cardiomegaly, Vascular dilatation, Wide distal femoral m...	OMIM:613320
Congenital Myopathy 8	Reduced vital capacity, High palate, Respiratory insufficiency, Cardiomegaly	OMIM:618654
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Neonatal respiratory distress, Mitral atresia, Patent ductus arteriosus, Clinodactyly, Double out...	OMIM:618164
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Xk Aprosencephaly Syndrome	Atrial septal defect, Abnormal morphology of the radius, Ventricular septal defect, Anal atresia	ORPHA:3469
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect, Short hallux, Long fingers, Clinodactyly of the 5th finger, Slender fi...	OMIM:620393
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Ventriculomegaly, Splenomegaly, Hydrocephalus, Respiratory insufficie...	OMIM:610333
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect, Cleft palate, Short distal phalanx of finger	OMIM:601355
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp...	OMIM:620135
Vater/Vacterl Association	Syndactyly, Ventricular septal defect, Absent radius, Esophageal atresia, Patent ductus arteriosu...	OMIM:192350
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Death in infancy, Ventricular septal defect, Cryptorchidism, Neonatal death	OMIM:613730
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Horizontal ribs, Complete atrio...	OMIM:617925
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Aganglionic megacolon, Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal de...	OMIM:235750
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Fetal Encasement Syndrome	Bilateral trilobed lung, Tetralogy of Fallot, Upper limb undergrowth, Lower limb undergrowth	OMIM:613630
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Atrial septal defect, Pat...	ORPHA:980
1Q21.1 Microduplication Syndrome	Hydrocephalus, Tetralogy of Fallot, Gastroesophageal reflux	ORPHA:250994
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, High palate, Death in childhood...	OMIM:269920
Congenital Heart Defects, Multiple Types, 3	Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor...	OMIM:614954
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Aggressive behavior, Tremor, Choreoathetosis, Dystonia	OMIM:612716
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Cryptorchidism, Short t...	OMIM:613390
Peroxisome Biogenesis Disorder 12A (Zellweger)	Atrial septal defect, Cholelithiasis, Patent ductus arteriosus, Double outlet right ventricle	OMIM:614886
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Pancreatic fibrosis, Ventricular septal defect, Postaxial polydactyly, Preaxial polyd...	OMIM:615503
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Ventricular septal defect, Tarsal synostosis, Muscular ventricular septal defe...	OMIM:157800
Roifman Syndrome	Noncompaction cardiomyopathy, Hepatomegaly, Short metacarpal, Ventricular septal defect, Eosinoph...	OMIM:616651
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Malabsorption, Mult...	OMIM:615508
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior	OMIM:605899
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypopl...	ORPHA:94066
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Microcytic anemia, V...	ORPHA:90308
Polysyndactyly With Cardiac Malformation	Syndactyly, Ventricular septal defect, Preaxial hand polydactyly, Duplication of phalanx of hallu...	OMIM:263630
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Tangier Disease	Accelerated atherosclerosis, Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Ca...	ORPHA:31150
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Ciliary dyskinesia	OMIM:225050
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Prominent fingertip pads, Ventricular septal defect, Overlapping toe, High, narrow palate, Crypto...	OMIM:618494
Hypotonia, Infantile, With Psychomotor Retardation	Respiratory insufficiency due to muscle weakness, Cryptorchidism, Ventricular septal defect	OMIM:616816
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Total anomalous pulmo...	ORPHA:261183
Grange Syndrome	Syndactyly, Bicuspid aortic valve, Carotid artery stenosis, Finger clinodactyly, Renal artery ste...	OMIM:602531
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
3C Syndrome	High, narrow palate, Abnormal tricuspid valve morphology, Gastroesophageal reflux, Atrial septal ...	ORPHA:7
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, High palate, Prominent fingertip pads, Atrial septal defect, Clinodactyly ...	OMIM:612474
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Internally rotated shoulders, Decreased response to grow...	OMIM:619503
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, High, narrow palate, Abd...	ORPHA:91387
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Hiatus hernia, Patent ductus arteriosus, Recurrent upper respiratory t...	OMIM:619769
Acalvaria	Spina bifida, Hydrocephalus, Abnormal lung lobation, Cleft palate, Holoprosencephaly	ORPHA:945
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defe...	OMIM:616898
Li-Ghorbani-Weisz-Hubshman Syndrome	Overlapping toe, Ventricular septal defect, Patent ductus arteriosus, Clinodactyly of the 5th fin...	OMIM:618974
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Mi...	OMIM:606003
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Postaxial hand polydactyly, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Phaver Syndrome	Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Hypoplasti...	ORPHA:2876
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia	ORPHA:382
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi...	OMIM:132900
X-Linked Lissencephaly With Abnormal Genitalia	Death in infancy, Aganglionic megacolon, Ventricular septal defect, Malabsorption, Cryptorchidism...	ORPHA:452
Restrictive Dermopathy	Dextrocardia, Camptodactyly of finger, Aplasia/Hypoplastia of the eccrine sweat glands, Patent du...	ORPHA:1662
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Death in infancy, Cardiomegaly, Death in childhood, Pulmonary arterial hypertension	OMIM:619064
Williams Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Rectal prolapse, Gast...	ORPHA:904
Mitochondrial Complex I Deficiency, Nuclear Type 36	Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Death in infancy, Toe syndactyly, Mitral stenosis, Ventricular ...	ORPHA:2008
Giant Cell Arteritis	Glossitis, Pericarditis, Epistaxis, Abnormal pleura morphology, Cough, Mediastinal lymphadenopath...	ORPHA:397
Congenital Toxoplasmosis	Hepatomegaly, Ventriculomegaly, Cardiomegaly, Jaundice, Hydrocephalus, Lymphadenopathy, Anemia, T...	ORPHA:858
Coronary Arterial Fistula	Orthopnea, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Tachypnea, Coronary art...	ORPHA:2041
X-Linked Intellectual Disability, Nascimento Type	Recurrent respiratory infections, Ventricular septal defect, Overlapping toe, Cryptorchidism, Pat...	ORPHA:163956
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Patent ductus arteriosus, Atri...	OMIM:618652
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Hypoplasia of the thymus, Death in childhood, Death in infancy, Leukocytosis, Hema...	OMIM:243150
Cardioacrofacial Dysplasia 1	Complete atrioventricular canal defect, Atrioventricular canal defect, Postaxial polydactyly, Gen...	OMIM:619142
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula...	OMIM:610978
Craniofaciofrontodigital Syndrome	Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly,...	ORPHA:363705
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Ventricular septal defect, Overlapping toe, Partial anomalous pulmonary venous ...	OMIM:617478
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cryptorchidism, Tetralogy of Fallot, Anal atresia, Genu valgum	ORPHA:1381
Pentalogy Of Cantrell	Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Abnormal tibia mo...	ORPHA:1335
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Ventricular septal defect, Hypoplastic right heart, Overlapping toe, Postaxial polydactyly, Paten...	OMIM:618142
Lambert Syndrome	Jaundice, Intrahepatic biliary atresia, Ventricular septal defect, Cholestasis	ORPHA:1296
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Delpire-Mcneill Syndrome	Ventricular septal defect, Tracheoesophageal fistula, Hip dislocation, Dysphagia	OMIM:619083
Ritscher-Schinzel Syndrome 2	Prominent fingertip pads, Syndactyly, Ventricular septal defect, Intestinal malrotation, Broad ha...	OMIM:300963
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal mesentery morphology, Abnormal rib morphology, Tracheoesophag...	ORPHA:93941
Fanconi Anemia, Complementation Group B	Death in infancy, Ventricular septal defect, Aplastic anemia, Absent thumb, Esophageal atresia, P...	OMIM:300514
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveolar hemorrhage, Crack...	ORPHA:99931
8Q12 Microduplication Syndrome	Atrial septal defect, Gastroesophageal reflux, Ventricular septal defect, Short foot	ORPHA:228399
Cat Eye Syndrome	Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis...	OMIM:115470
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Cardiomegaly	ORPHA:88643
Methimazole Embryofetopathy	Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Coarctation of aorta, A...	ORPHA:1923
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Inverted Duplicated Chromosome 15 Syndrome	Ventricular septal defect, Cryptorchidism, 2-3 toe syndactyly, High palate, Clinodactyly of the 5...	ORPHA:3306
Complete Atrioventricular Septal Defect	Hepatomegaly, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal de...	ORPHA:1329
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysm...	OMIM:618718
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent duc...	ORPHA:2519
Edinburgh Malformation Syndrome	Jaundice, Hydrocephalus	OMIM:129850
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Cleft palate, Aplasia/Hypoplasia of the radius, Ectopic anus, Hypoplas...	ORPHA:2476
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the f...	ORPHA:2256
Johanson-Blizzard Syndrome	Colonic diverticula, Hepatomegaly, Ventricular septal defect, Portal hypertension, Malabsorption,...	OMIM:243800
Mullegama-Klein-Martinez Syndrome	Cleft palate, Coarctation of aorta, Submucous cleft of soft and hard palate, Hypoplastic left hea...	OMIM:301022
Feingold Syndrome 1	Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph...	OMIM:164280
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Megaloblastic anemia, Stroke, Atrial septal defect, Thrombocytopenia	ORPHA:49827
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Ventricular septal defect, Tapered finger, Patent ductus arteriosus, Inter...	OMIM:613870
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomegaly, Pericardial effus...	ORPHA:555874
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Celiac disease, Patent...	ORPHA:284169
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Syndactyly, Ventricular septal defect, Postaxial polydactyly, Hypoplastic i...	OMIM:617895
Developmental And Epileptic Encephalopathy 36	Hepatomegaly, Hydrocephalus	OMIM:300884
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Clinodactyly of the 5th finger, Ventricular septal defect, Rocker bottom foot	OMIM:618506
Congenital Tracheal Stenosis	Respiratory distress, Ascending aorta hypoplasia, Abnormal lung morphology, Abnormal lung lobatio...	ORPHA:141127
Atelis Syndrome 1	Ventricular septal defect, Thrombocytopenia, Bronchiectasis, Leukopenia, High palate, Atrial sept...	OMIM:620184
Joubert Syndrome 18	Trident pelvis, Bowing of the long bones, Ventricular septal defect, Postaxial polydactyly, Cleft...	OMIM:614815
Knobloch Syndrome	Lymphangioma, Pyloric stenosis, Patent ductus arteriosus, Dextrocardia	ORPHA:1571
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Cryptorchidism, Ventricular septal defect, Hypoplastic left heart, Abnormal rib morphology	ORPHA:2772
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Abnormal lung morphology, Abnormal femur morphology, Cough, Pericardial effu...	ORPHA:464329
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Postaxial hand polydactyly, Cholestasis, C...	OMIM:615630
Desbuquois Syndrome	Ventricular septal defect, Camptodactyly of finger, Coxa valga, Small hand, Coxa vara, Radioulnar...	ORPHA:1425
Sifrim-Hitz-Weiss Syndrome	Ventricular septal defect, Tapered finger, Cryptorchidism, Patent ductus arteriosus, Flat acetabu...	OMIM:617159
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Patent ductus arteriosus, Asthma, 2-3 toe syndactyly, Delayed pubic bone ossif...	OMIM:618162
Kagami-Ogata Syndrome	Hepatomegaly, Ventricular septal defect, Coxa valga, Splenomegaly, Patent ductus arteriosus, Long...	OMIM:608149
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom...	OMIM:256550
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Death in infancy, Ventricular septal defect, Postaxial polydactyly, S...	OMIM:614576
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Lobulated tongue, Short palm, Neonatal death, Patent foramen ovale, Hepatomeg...	OMIM:269860
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly, Abnormal heart morphology	ORPHA:2185
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Thickened ribs, Cardiomegaly, Splenomegaly, Recurrent upper respiratory tract infec...	OMIM:252920
Pseudo-Torch Syndrome 3	Death in infancy, Apnea, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Respirat...	OMIM:618886
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Dextrocardia, Abnormal morphology of ulna, Mi...	ORPHA:2911
Distal Deletion 15Q	Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri...	ORPHA:1596
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Ventricular septal defect, Proximal placement of thumb, Abnormal rib mo...	ORPHA:93267
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis	OMIM:126320
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Abnormal rib morphology, Cleft palate, Abnormal shoulder morphology, E...	ORPHA:2345
Neurooculorenal Syndrome	Ectopic posterior pituitary, Dextrocardia, Intestinal malrotation, Short hallux, Cryptorchidism, ...	OMIM:620305
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Multiple rib fractures, Short femur, Ventricular septal defect, Fractured radius, Beaded ribs, Ca...	OMIM:616897
Ring Chromosome 7 Syndrome	Situs inversus totalis, Slender finger, Small hand, Cleft palate, Genu valgum, Hydrocele testis, ...	ORPHA:1449
Frank-Ter Haar Syndrome	Bowing of the long bones, Ventricular septal defect, Secundum atrial septal defect, Metatarsus ad...	OMIM:249420
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Cardiomegaly	OMIM:613576
Cooper-Jabs Syndrome	Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Ab...	ORPHA:1488
Noonan Syndrome 8	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pleural effusion, Pulmonic s...	OMIM:615355
3P25.3 Microdeletion Syndrome	Ventricular septal defect, Broad hallux, Proximal placement of thumb, Tapered finger, Overlapping...	ORPHA:435638
Weill-Marchesani Syndrome	Ventricular septal defect, Short thumb, Pulmonic stenosis, Aortic valve stenosis, Brachydactyly	ORPHA:3449
Trigonocephaly With Short Stature And Developmental Delay	Clinodactyly of the 5th finger, High palate, Ventricular septal defect	OMIM:314320
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Pancreatic fibrosis, Prea...	OMIM:263520
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Cryptorchidism, Absent pulmonary artery, Patent ductus arteriosus, Spl...	OMIM:600460
Mosaic Trisomy 16	Abnormality of the gastrointestinal tract, Meckel diverticulum, Syndactyly, Ventricular septal de...	ORPHA:1708
Multifocal Atrial Tachycardia	Ventricular septal defect, Cryptorchidism, Dyspnea, Tachypnea, Pulmonic stenosis, Atrial septal d...	ORPHA:3282
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Death in infancy, Cardiomegaly, Tachypnea, Hepatocellula...	OMIM:201475
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Broad hallux, Sandal gap, Cryptorchidism, Patent ductus ...	OMIM:300166
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Hydrocephalus, Chronic neutropenia, Anemia	OMIM:619302
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Keutel Syndrome	Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent...	ORPHA:85202
Trigonocephaly-Short Stature-Developmental Delay Syndrome	High palate, Ventricular septal defect, Fifth finger distal phalanx clinodactyly	ORPHA:3369
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect, Cleft palate	OMIM:617616
Esophageal Atresia	Respiratory distress, Bronchitis, Gastrointestinal dysmotility, Anorectal anomaly, Laryngotracheo...	ORPHA:1199
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Recurrent lower respir...	OMIM:253250
Cantu Syndrome	Bicuspid aortic valve, Broad hallux, Short hallux, Cardiomegaly, Pericardial effusion, Coxa valga...	OMIM:239850
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Recur...	ORPHA:500159
Proteus Syndrome	Lymphangioma, Splenomegaly, Venous malformation	OMIM:176920
Mckusick-Kaufman Syndrome	Finger syndactyly, Ventricular septal defect, Aganglionic megacolon, Tarsal synostosis, Cryptorch...	ORPHA:2473
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the distal pha...	OMIM:113000
Meier-Gorlin Syndrome 7	2-4 finger syndactyly, Anal stenosis, Ventricular septal defect, Bowing of the legs, Aplasia/Hypo...	OMIM:617063
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Tetrasomy 9P	Biliary atresia, High palate, Clinodactyly of the 5th finger, Patent foramen ovale, Bifid uvula, ...	ORPHA:3310
Stankiewicz-Isidor Syndrome	Ventricular septal defect, Absent thumb, Cryptorchidism, Patent ductus arteriosus, Short thumb, 2...	OMIM:617516
Trisomy 8P	Short fourth metatarsal, Abnormal atrioventricular connection, Abnormal lung lobation, Aplasia/Hy...	ORPHA:264450
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, High, narrow palate, Right ve...	OMIM:619472
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Hallux valgus, Dislocation of toes, Congenital hip dislocation, Left atr...	OMIM:300280
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna...	OMIM:142900
Feingold Syndrome	Hallux valgus, Brachydactyly, Toe syndactyly, Esophageal atresia, Patent ductus arteriosus, Abnor...	ORPHA:1305
Woods Syndrome	3-4 finger cutaneous syndactyly, Ventricular septal defect, Supernumerary nipple	OMIM:615236
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Leukemia, Ventricular septal defect, Polydactyly	OMIM:602501
Kawasaki Disease	Glossitis, Pericarditis, Abnormal heart valve morphology, Myocarditis, Jaundice, Vasculitis, Leuk...	ORPHA:2331
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Fried Syndrome	Hydrocephalus, High palate	ORPHA:85335
Pontocerebellar Hypoplasia, Type 17	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Respiratory i...	OMIM:619909
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Respiratory...	OMIM:600649
Tetraamelia Syndrome 2	Absent nipple, Ventricular septal defect, Hypoplastic pulmonary veins, Cleft palate, Glossoptosis...	OMIM:618021
Perlman Syndrome	Cryptorchidism, High, narrow palate, Abnormal pancreas morphology, Hepatomegaly	ORPHA:2849
Jacobsen Syndrome	Long hallux, Abnormality of the anus, Broad hallux phalanx, Finger syndactyly, Death in infancy, ...	ORPHA:2308
Warsaw Breakage Syndrome	Ventricular septal defect, 2-3 toe syndactyly, High palate, Clinodactyly of the 5th finger, Tetra...	OMIM:613398
Filippi Syndrome	Ventricular septal defect, 2-4 toe syndactyly, Cryptorchidism, Cutaneous syndactyly, Finger clino...	OMIM:272440
Diamond-Blackfan Anemia 7	Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Short thumb, Patent ...	OMIM:612562
Fryns Syndrome	Ectopic pancreatic tissue, Proximal placement of thumb, Prominent fingertip pads, Atrial septal d...	OMIM:229850
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus, Bifid uvula, Cleft palate	OMIM:258320
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/hypoplasia involving bones of the ...	ORPHA:40366
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Patent ductus arteriosus, Submucous cleft hard palate, Cleft palate, H...	OMIM:301043
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Protruding tongue, Cryptorchidism, Patent ductus arteriosus, Cleft pal...	OMIM:612938
Char Syndrome	Mesoaxial foot polydactyly, Ventricular septal defect, Toe syndactyly, Supernumerary nipple, Meso...	ORPHA:46627
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Atrial septal defec...	OMIM:274000
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Bohring-Opitz Syndrome	Bilateral cleft palate, Syndactyly, Neonatal respiratory distress, Ventricular septal defect, Int...	OMIM:605039
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia...	OMIM:169400
Congenital Gerbode Defect	Ventricular septal defect, Crackles, Dyspnea, Right atrial enlargement, Pulmonary arterial hypert...	ORPHA:99095
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Abnormality of the anterior pituitary, Post...	ORPHA:75389
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Neonatal respiratory distress, Ventricular septal defect, Monkey wrench femoral neck, Patent duct...	OMIM:618870
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cirrhosis, Hepatocellular carcinoma, Pl...	OMIM:235200
Masa Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:303350
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Holopro...	ORPHA:93274
Craniofacial Dyssynostosis With Short Stature	Pyloric stenosis, Patent ductus arteriosus, Ventricular septal defect, Cryptorchidism	OMIM:218350
Arterial Calcification, Generalized, Of Infancy, 1	Neonatal respiratory distress, Coronary artery calcification, Cardiomegaly, Carotid artery calcif...	OMIM:208000
Noonan Syndrome 9	Cryptorchidism, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta	OMIM:616559
Kyphoscoliotic Ehlers-Danlos Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Arachnodact...	ORPHA:536545
Short Stature And Facioauriculothoracic Malformations	Cervical ribs, High palate, Ventricular septal defect, Cleft palate	OMIM:609654
Emanuel Syndrome	Recurrent respiratory infections, Congenital hip dislocation, Truncus arteriosus, Ventricular sep...	OMIM:609029
Congenital Heart Defects And Skeletal Malformations Syndrome	Ventricular septal defect, Intestinal malrotation, Arachnodactyly, Sandal gap, Repeated pneumotho...	OMIM:617602
Trisomy 13	Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Cryptorchidism, Abnorma...	ORPHA:3378
Orofaciodigital Syndrome V	Recurrent respiratory infections, Ventricular septal defect, Aganglionic megacolon, Hamartoma of ...	OMIM:174300
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi...	OMIM:618775
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ...	ORPHA:2306
Attrv122I Amyloidosis	Abnormal enteric nervous system morphology, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic val...	ORPHA:85451
Carnitine Deficiency, Systemic Primary	Respiratory distress, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Cardiomyopath...	OMIM:212140
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Episodic tachypnea, Hydrocephalus, Apneic episodes in infancy, Dysphagia, Mecke...	ORPHA:163961
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Leukopenia, High palate, Hypoplasia of the thymus, Neutropenia, He...	OMIM:612541
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, 1...	OMIM:617201
Aortic Aneurysm, Familial Thoracic 8	Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor...	OMIM:615436
Chromosome 5Q12 Deletion Syndrome	Long toe, Ventricular septal defect, Long fingers, Patent ductus arteriosus, Macroglossia, Atrial...	OMIM:615668
Velocardiofacial Syndrome	Hypoparathyroidism, Ventricular septal defect, Cryptorchidism, Velopharyngeal insufficiency, Subm...	OMIM:192430
Verheij Syndrome	Truncus arteriosus, Ventricular septal defect, Hip dislocation, Cleft palate, Short 5th finger, C...	OMIM:615583
Aase-Smith Syndrome I	Death in infancy, Ventricular septal defect, Slender finger, Cleft palate	OMIM:147800
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Tarp Syndrome	Meckel diverticulum, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the radius, Subdura...	OMIM:311900
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Slend...	ORPHA:329224
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Small hand, Short foot, Gastroesophageal reflux...	OMIM:617450
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Arachnodactyly, Var...	OMIM:619656
Alpha-N-Acetylgalactosaminidase Deficiency	Recurrent pneumonia, Gastroesophageal reflux, Cardiomegaly	ORPHA:3137
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Hepatomegaly, Giant cell hepatitis, Death in infancy, Ventricular septal defect, Jaundice, Choles...	OMIM:613404
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Neonatal respiratory distress, Ventricular septal defect, Intestinal malrotation, Cryptorchidism,...	ORPHA:457193
Laubry-Pezzi Syndrome	Aortic valve prolapse, Abnormal coronary artery morphology, Bicuspid aortic valve, Ventricular se...	ORPHA:99094
Tyshchenko Syndrome	Ventricular septal defect, Supernumerary nipple, High, narrow palate, Cryptorchidism, Narrow pala...	OMIM:615102
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Venous insufficiency, Abn...	ORPHA:33276
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Anemia	ORPHA:163596
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Ventricular septal defect, Arachnodactyly, Cryptorchidism, Aortic root aneurysm, Camptodactyly, A...	OMIM:301039
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Intrahepatic cholestasis, Dyspnea, Dilated...	OMIM:614921
Hamamy Syndrome	Hypoparathyroidism, Syndactyly, Long toe, Down-sloping shoulders, Microcytic anemia, Tapered fing...	OMIM:611174
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behavior	ORPHA:3077
Griscelli Syndrome	Encephalocele, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hydrocephalus, P...	ORPHA:381
Braddock-Carey Syndrome 1	Aortic valve prolapse, Ventricular septal defect, Small hand, Cleft palate, Anteriorly placed anu...	OMIM:619980
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Death in infancy, Ventricular septal defect, Hepatic melanin-like lysosomal...	OMIM:208085
Abdominal Obesity-Metabolic Syndrome 3	Coronary artery stenosis, Stroke	OMIM:615812
Ivic Syndrome	Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limited interphalangeal moveme...	OMIM:147750
Chromosome 6Pter-P24 Deletion Syndrome	Broad toe, Ventricular septal defect, Rocker bottom foot, Patent ductus arteriosus, Short 2nd toe...	OMIM:612582
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Leukocy...	OMIM:603903
Emanuel Syndrome	Recurrent respiratory infections, Congenital hip dislocation, Truncus arteriosus, Ventricular sep...	ORPHA:96170
Kapur-Toriello Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Intestinal malrotation	ORPHA:2328
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Early ossification of capital femoral epiphyses, Hepatic fibrosis, Hypoplastic iliac wing, Short ...	OMIM:208500
Suleiman-El-Hattab Syndrome	Recurrent respiratory infections, Ventricular septal defect, Cryptorchidism, High palate, Polydac...	OMIM:618950
Hydrocephalus-Obesity-Hypogonadism Syndrome	High, narrow palate, Hydrocephalus, Mitral valve prolapse	ORPHA:2183
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect	OMIM:618901
Brachytelephalangic Chondrodysplasia Punctata	Central apnea, Recurrent respiratory infections, Neonatal respiratory distress, Respiratory failu...	ORPHA:79345
Attrv30M Amyloidosis	Cardiomyopathy, Cardiomegaly	ORPHA:85447
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Death in infancy, Ventricular septal defect, Thyroid lymphangiectasia, Pancreatic l...	OMIM:235255
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Broad hallux, Ventricular septal defect, Clinodactyly of the 2nd toe, Coxa valg...	OMIM:620073
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Pulmonary hypoplasia	OMIM:618174
Contractural Arachnodactyly, Congenital	Hip contracture, Bowing of the long bones, Ventricular septal defect, Bicuspid aortic valve, Arac...	OMIM:121050
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Hepatomegaly, Finger syndactyly, Neonatal respiratory distress, Ventricular sep...	OMIM:620025
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Dysphagia, Titubation, Dystonia, Abnormal posturing	ORPHA:225147
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Ventricular septal defect, Postaxial polydactyly, Vascular ring	OMIM:603387
8Q24.3 Microdeletion Syndrome	Respiratory distress, Ectopic posterior pituitary, Congenital hip dislocation, Abnormal lung loba...	ORPHA:508488
Microcephaly-Capillary Malformation Syndrome	Brachydactyly, Ventricular septal defect, Cleft palate, Atrial septal defect, Clinodactyly, Paten...	OMIM:614261
Serkal Syndrome	Malrotation of small bowel, Ventricular septal defect, Pulmonary hypoplasia, Pulmonic stenosis	ORPHA:139466
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Syndromic Diarrhea	Hepatomegaly, Villous atrophy, Lymphopenia, Bicuspid aortic valve, Ventricular septal defect, Hep...	ORPHA:84064
Mosaic Trisomy 1	Long toe, Hepatic agenesis, Broad toe, Toe syndactyly, Ventricular septal defect, Arachnodactyly,...	ORPHA:1692
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614702
Alagille Syndrome 2	Cholestasis, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fal...	OMIM:610205
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Abnormal lung lobation...	OMIM:146510
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Cleft palate	OMIM:214300
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Tako-Tsubo Cardiomyopathy	Abnormal coronary artery morphology, Dyspnea, Dilatation of the ventricular cavity, Coronary arte...	ORPHA:66529
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Pulmonary arterial hypertension, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ventricular septal defect, Proximal placement of thumb, Clinodactyly of the 5th toe, Patent ductu...	OMIM:620113
Chops Syndrome	Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Cryptorchidism, Splenom...	OMIM:616368
Colonic Atresia	Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inversus, Colonic...	ORPHA:1198
Intellectual Developmental Disorder, Autosomal Dominant 48	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ...	OMIM:617751
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Wrinkly Skin Syndrome	Congenital hip dislocation, Cryptorchidism, Muscular ventricular septal defect, Coxa vara, Slende...	OMIM:278250
19P13.3 Microduplication Syndrome	Unilateral cryptorchidism, Ventricular septal defect, Long fingers, Hip dislocation, Cleft palate...	ORPHA:447980
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
Codas Syndrome	Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Extrahepatic biliary duc...	ORPHA:1458
Diamond-Blackfan Anemia 12	Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia, Triphalange...	OMIM:615550
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo...	OMIM:265120
Corpus Callosum, Partial Agenesis Of, X-Linked	High palate, Hydrocephalus, Aganglionic megacolon, Ventriculomegaly	OMIM:304100
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus	OMIM:615599
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Crypto...	ORPHA:77298
Recombinant 8 Syndrome	Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Pulmonary artery stenosis, Pa...	ORPHA:96167
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Intestinal malrotation, Postaxial polydactyly, Cryptorchidism, 2-3 toe...	ORPHA:404440
Huntington Disease-Like 1	Restlessness, Abnormal posturing	ORPHA:157941
Kapur-Toriello Syndrome	Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, Cryptorchidism, Paten...	OMIM:244300
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Calcaneovalgus deformi...	ORPHA:3078
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Ventricular septal defect, Patent ductus arteriosus, Cleft palate, High palate, Clinodactyly of t...	OMIM:220500
Glycogen Storage Disease Ii	Hepatomegaly, Recurrent respiratory infections, Subarachnoid hemorrhage, Cardiomegaly, Respirator...	OMIM:232300
Fanconi Anemia, Complementation Group D2	Pancytopenia, Absent thumb, Absent radius, Cryptorchidism, Esophageal atresia, Patent ductus arte...	OMIM:227646
Intellectual Developmental Disorder, Autosomal Dominant 47	Gastroesophageal reflux, Ventricular septal defect, Supernumerary nipple, Cryptorchidism	OMIM:617635
Beck-Fahrner Syndrome	High palate, Hip dysplasia, Ventricular septal defect, Cardiomegaly	OMIM:618798
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Bifid sternum, Coarctation of aorta	OMIM:140850
Thanatophoric Dysplasia	Hydrocephalus, Respiratory insufficiency, Pulmonary hypoplasia, Atrial septal defect, Ventriculom...	ORPHA:2655
Gm1 Gangliosidosis	Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Splenomegal...	ORPHA:354
Teebi Hypertelorism Syndrome 1	Ventricular septal defect, Small hand, Hydrocele testis, Aortic root aneurysm, Pulmonary hypoplas...	OMIM:145420
Hydrocephaly-Low Insertion Umbilicus Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return	ORPHA:2184
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Neonatal Lupus Erythematosus	Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Thrombocytopenia, Splenomegaly, Di...	ORPHA:398124
Axial Mesodermal Dysplasia Spectrum	Abnormality of the spleen, Hydrocephalus, Anorectal anomaly, Tracheoesophageal fistula, Aplasia/H...	ORPHA:1834
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Pulmonary artery stenosis, Cleft palate, Bilateral lung agenesis, Pulm...	OMIM:611812
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Pointed proximal second through fifth metacarpals, Coxa valga, Epiphyseal deformiti...	OMIM:253010
Mosaic Variegated Aneuploidy Syndrome 2	Ventricular septal defect, Decreased response to growth hormone stimulation test, Abnormal lung l...	OMIM:614114
Noonan Syndrome 10	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Mitral...	OMIM:616564
Tropical Endomyocardial Fibrosis	Hepatomegaly, Orthopnea, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia,...	ORPHA:75565
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Hydrocephalus, Respiratory insufficiency, Left ventricular hypertrophy, Dandy-W...	OMIM:613153
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Macroglossia, H...	ORPHA:369891
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis,...	OMIM:618278
Coach Syndrome 2	Congenital hepatic fibrosis, Hydrocephalus, Apneic episodes in infancy, Hepatic fibrosis, Portal ...	OMIM:619111
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Ventricular septal defect, Miscarriage, Short ...	ORPHA:2438
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Macroglossia, Cardiomyopathy, Hydrocephalus	OMIM:613155
Nephrotic Syndrome, Type 11	Arachnodactyly, Ventricular septal defect, Partial duplication of thumb phalanx, Dilated cardiomy...	OMIM:616730
Meckel Syndrome, Type 4	Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, Cleft palate, Bi...	OMIM:611134
Trisomy 1Q	Toe syndactyly, Ventricular septal defect, Arachnodactyly, Camptodactyly of finger, Cryptorchidis...	ORPHA:261344
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Ventricular septal defect, Overlapping toe, Down-sloping shoulders, Tapered finger, Cryptorchidis...	OMIM:617452
C Syndrome	Hepatomegaly, Short metacarpal, Toe syndactyly, Ventricular septal defect, Cryptorchidism, Patent...	OMIM:211750
Tarp Syndrome	Finger syndactyly, Extramedullary hematopoiesis, Apnea, Rocker bottom foot, Postaxial polydactyly...	ORPHA:2886
Burn-Mckeown Syndrome	Ventricular septal defect, 2-3 toe syndactyly, Cleft palate, Atrial septal defect, Bifid uvula	OMIM:608572
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Short femur, Ventricular septal defect, Foot oligodactyly	OMIM:601357
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Anteriorl...	OMIM:618748
Oculoauriculofrontonasal Syndrome	Ventricular septal defect, Cleft palate	ORPHA:398156
Distal 22Q11.2 Microdeletion Syndrome	Recurrent respiratory infections, Bowing of the long bones, Toe syndactyly, Ventricular septal de...	ORPHA:261330
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Coat hanger sign of ribs, Ventricular septal defect, Abnormal heart morphology	ORPHA:254534
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,...	OMIM:231005
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Tapered finger, Unilateral radial aplasia, Complete atrioventricular canal defect, Partial absenc...	ORPHA:476126
Alagille Syndrome	Hepatomegaly, Hypoplasia of the ulna, Ventricular septal defect, Cryptorchidism, Abnormal rib mor...	ORPHA:52
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia, Cleft palate	OMIM:619895
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Malabsorption, Myocarditis, Mediastinal ...	ORPHA:3452
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Hypoplastic pubic ramus, Recurrent respiratory infections, Abnorm...	ORPHA:280
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Hyperextensibility of the finger joints, Toe syndactyly, Ventricular septal defect, Arachnodactyl...	ORPHA:505237
Chromosome 18Q Deletion Syndrome	Recurrent respiratory infections, Toe syndactyly, Absence of the pulmonary valve, Ventricular sep...	OMIM:601808
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Short palm, Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pe...	OMIM:235510
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Kury-Isidor Syndrome	Finger syndactyly, Ventricular septal defect, Rocker bottom foot, Proximal placement of thumb, Hi...	OMIM:619762
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Prominent superficial veins, Short humerus, Aplasia/hypoplasia involving ...	ORPHA:75508
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen...	OMIM:301068
Triploidy	Hepatomegaly, Intestinal malrotation, Abnormality of the pancreas, Hydrocephalus, Abnormality of ...	ORPHA:3376
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Cryptorchidism, Pate...	OMIM:605275
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomeg...	ORPHA:308552
Filippi Syndrome	Enlarged epiphyses, Finger syndactyly, Ventricular septal defect, Supernumerary nipple, Cryptorch...	ORPHA:3255
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Hepatomegaly, Death in infancy, Neonatal respiratory distress, Tapered toe, Apnea, Card...	OMIM:608836
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Cardiomeg...	ORPHA:1517
Mogs-Cdg	Respiratory distress, Hepatomegaly, Hypoventilation, Apnea, Cardiomegaly, Hepatosplenomegaly, Hyd...	ORPHA:79330
Lambotte Syndrome	Preaxial foot polydactyly, Ventricular septal defect	OMIM:245552
Zellweger Syndrome	Hepatomegaly, Death in infancy, Ventricular septal defect, Malabsorption, Pyloric stenosis, Crypt...	ORPHA:912
Jacobsen Syndrome	Recurrent respiratory infections, Ventricular septal defect, Missing ribs, Pyloric stenosis, Cryp...	OMIM:147791
Arterial Calcification, Generalized, Of Infancy, 2	Right atrial enlargement, Arterial calcification, Coronary artery calcification, Cardiomegaly	OMIM:614473
Gaucher Disease, Perinatal Lethal	Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosp...	OMIM:608013
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Ventricular septal defect, Sandal gap, Tapered finger, Patent ductus arteriosus, 2-3 toe syndacty...	OMIM:617061
Kleefstra Syndrome	Recurrent respiratory infections, Ventricular septal defect, Bicuspid aortic valve, Supernumerary...	ORPHA:261494
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Protruding tongue, Cardiomegaly, Abnormal thumb morphology, Abnormal atrioventricular valve morph...	ORPHA:324410
Diamond-Blackfan Anemia 10	Respiratory distress, Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, Ret...	OMIM:613309
Lethal Congenital Contracture Syndrome 2	Respiratory failure, Dilated cardiomyopathy, Ventricular septal defect	OMIM:607598
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Overlapping fingers, Ventricular septal defect, Overlapping toe, Broad distal ...	ORPHA:464738
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus, Bicuspid aortic valve	ORPHA:397951
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	High, narrow palate, Recurrent pneumonia, Hip dislocation, Mitral valve prolapse, Congenital bila...	ORPHA:1900
Short Stature-Micrognathia Syndrome	Ventricular septal defect, Bowing of the legs, Coxa valga, Cryptorchidism, Metaphyseal widening, ...	OMIM:617164
Pyruvate Dehydrogenase E1-Alpha Deficiency	Gastroesophageal reflux, Neonatal respiratory distress, Ventricular septal defect, Recurrent aspi...	ORPHA:79243
Heart And Brain Malformation Syndrome	Ventricular septal defect, Camptodactyly of finger, High, narrow palate, Gastroesophageal reflux,...	OMIM:616920
1P36 Deletion Syndrome	Abnormality of the spleen, Abnormality of the liver, Gastroesophageal reflux, Clinodactyly of the...	ORPHA:1606
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Short metacarpal, Ventricular septal defect, Metaphyseal chondrodysplasia, Cryptor...	ORPHA:166035
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Exertional dyspnea, Hepatic steatosis, Cardiomegaly	ORPHA:42
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Dyspnea, Right atrial enlargement, Right ventricular hypertrophy, Abn...	ORPHA:1677
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly	ORPHA:272
Constricting Bands, Congenital	Syndactyly, Abnormal lung lobation, Cleft palate, Hand polydactyly, Ectopia cordis	OMIM:217100
Thymic Neuroendocrine Tumor	Pancreatic islet cell adenoma, Pituitary null cell adenoma, Chronic noninfectious lymphadenopathy...	ORPHA:97289
King-Denborough Syndrome	Bilateral cryptorchidism, High palate, Ventricular septal defect, Cryptorchidism	OMIM:619542
Seckel Syndrome 9	Recurrent respiratory infections, Ventricular septal defect, Asthma, Pulmonary artery hypoplasia,...	OMIM:616777
Beaulieu-Boycott-Innes Syndrome	Patent ductus arteriosus, Ventricular septal defect, Velopharyngeal insufficiency	OMIM:613680
Floating-Harbor Syndrome	11 pairs of ribs, Brachydactyly, Ivory epiphyses of the distal phalanges of the hand, Short middl...	OMIM:136140
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul...	OMIM:616034
Neurodevelopmental Disorder With Language Delay And Seizures	Cryptorchidism, Ventricular septal defect	OMIM:619908
Metatropic Dysplasia	Aplasia/Hypoplasia of the lungs, Hydrocephalus, Cleft palate	ORPHA:2635
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Hip dysplasia, Gastroesopha...	ORPHA:494344
Donnai-Barrow Syndrome	Ventricular septal defect, Intestinal malrotation	ORPHA:2143
Sandhoff Disease	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Macroglossia, Death in childhood, Cherry red spot...	OMIM:268800
Diamond-Blackfan Anemia 5	Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia	OMIM:612528
Ogden Syndrome	Ventricular septal defect, Broad hallux, High, narrow palate, Pulmonary artery stenosis, Cryptorc...	ORPHA:276432
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Absent gallbladder, Hyperextensibility of the finger joints, Ventricular septal defect,...	ORPHA:163979
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Aplasia of the ulna, Hand oligodactyly, Endocardial fibroelastosis	OMIM:276822
Adams-Oliver Syndrome	Encephalocele, Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertens...	ORPHA:974
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Ventricular septal defect, Camptodactyly of finger, Abnormalit...	ORPHA:3138
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Ventricular septal defect, Proximal placement of thumb, Esophageal atresia,...	OMIM:610536
Hydrolethalus Syndrome 1	Accessory spleen, Ventricular septal defect, Complete atrioventricular canal defect, Preaxial han...	OMIM:236680
Ventriculomegaly With Cystic Kidney Disease	Postaxial polydactyly, Ventricular septal defect, Vascular dilatation	OMIM:219730
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperextensibility of the finger joints, Macroorchidism, Ventricular septal defect, Arachnodactyl...	OMIM:309520
Intellectual Developmental Disorder, Autosomal Recessive 71	Cryptorchidism, Ventricular septal defect	OMIM:618504
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Abnormal heart valve morphology, Intestinal pseudo-obstruction, Splenomegaly, Asthm...	OMIM:309900
Galloway-Mowat Syndrome 7	Hallux valgus, Arachnodactyly, Ventricular septal defect, Partial duplication of thumb phalanx, D...	OMIM:618348
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus, Cleft palate, Pulmonary hypoplasia, Microglossia	OMIM:241800
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Hepatomegaly, Orthopnea, Transient ischemic attack, Thoracic aortic aneurys...	ORPHA:365
Autosomal Recessive Robinow Syndrome	Abnormal tricuspid valve morphology, Clinodactyly of the 5th finger, Atrial septal defect, Synost...	ORPHA:1507
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation	OMIM:220220
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hepatomegaly, Ventricular septal defect, Pneumonia, Episodic tachypnea, Per...	ORPHA:26793
Meckel Syndrome, Type 3	Hepatomegaly, Occipital encephalocele, Malformation of the hepatic ductal plate, Hydrocephalus, C...	OMIM:607361
Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Small ha...	OMIM:300712
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital hip dislocation, Ventricular septal defect, Bicuspid aortic valve, Supernumerary nippl...	ORPHA:457279
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Decreased response to growth hormone stimulation test, Absent thumb, S...	OMIM:609053
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Dilation of Virchow-Robin spaces, Ventricular septal defect, Contracture of the proximal interpha...	OMIM:300998
Lymphatic Malformation 7	Respiratory distress, Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pl...	OMIM:617300
Cirrhotic Cardiomyopathy	Hepatomegaly, Pulmonary edema, Left atrial enlargement, Cardiomegaly, Jaundice, Elevated pulmonar...	ORPHA:57777
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Chromosome 9P Deletion Syndrome	Long toe, Ventricular septal defect, Sandal gap, Hallux varus, Tapered finger, High, narrow palat...	OMIM:158170
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Anteriorly placed anus, Glossoptosis, High palate, Gastroesophageal r...	OMIM:117650
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Pancreatic lymphangiectasis, Cryptorchidism, Splenomegal...	ORPHA:1655
Alveolar Echinococcosis	Liver abscess, Abnormal pelvis bone morphology, Abnormal pericardium morphology, Portal hypertens...	ORPHA:284
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect, Bilateral cryptorchidism, Patent ductus arteriosus, Recurrent pneumoni...	OMIM:300472
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Recurrent respiratory infections, Congenital hip dislocation, Ventricular sept...	ORPHA:217346
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect, Cleft palate, Polycystic ovaries, Broad thumb, Brachydactyly	ORPHA:1770
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Ventriculomegaly, Abnormal heart morphology	OMIM:175700
Distal Deletion 12Q	Unilateral cryptorchidism, Broad hallux, Overlapping toe, Esophageal atresia, Patent ductus arter...	ORPHA:96149
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Hip contracture, Overlapping toe, Rocker bottom foot, Tapered finger, Abnormal morphology of the ...	ORPHA:488642
Myopathy, Centronuclear, X-Linked	Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Pyloric stenos...	OMIM:310400
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Death in infancy, Ventricular septal defect, Death in childhood	OMIM:616901
Hydrolethalus Syndrome 2	Cleft palate, Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Varicose veins, Chylothorax, T...	OMIM:153400
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism	ORPHA:745
Nasu-Hakola Disease	Functional abnormality of the gastrointestinal tract, Hydrocephalus, Ventriculomegaly, Acute leuk...	ORPHA:2770
Williams-Beuren Syndrome	Colonic diverticula, Hallux valgus, Bicuspid aortic valve, Ventricular septal defect, Portal hype...	OMIM:194050
Floating-Harbor Syndrome	11 pairs of ribs, Short metacarpal, Brachydactyly, Celiac disease, Cryptorchidism, Short thumb, B...	ORPHA:2044
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, High, narrow palate, Hydrocephalus, Dysplastic tricuspid valve, Submucous c...	OMIM:612863
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
19P13.12 Microdeletion Syndrome	Finger syndactyly, Toe clinodactyly, Ventricular septal defect, Sandal gap, Cryptorchidism, Cleft...	ORPHA:254346
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Death in infancy, Anterior rib cupping, Metaphyseal widening, Ne...	OMIM:617941
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Shoulder dislocation, Atrial septal defect, Patent foramen o...	OMIM:245600
Isotretinoin Embryopathy-Like Syndrome	Cleft palate, Conotruncal defect	OMIM:243440
Insulin-Like Growth Factor I, Resistance To	Ventricular septal defect, Sandal gap, Small hand, Short foot, High palate, Short finger, Radial ...	OMIM:270450
Coffin-Siris Syndrome 7	Ventricular septal defect, Bicuspid aortic valve, Clinodactyly of the 5th finger, Patent foramen ...	OMIM:618027
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormality of the gastrointestinal tract, Bicuspid aortic valve, Ventricular septal defect, Cryp...	ORPHA:453499
Duane-Radial Ray Syndrome	Syndactyly, Anal stenosis, Hypoplasia of the ulna, Ventricular septal defect, Aganglionic megacol...	OMIM:607323
Keutel Syndrome	Sinusitis, Ventricular septal defect, Recurrent bronchitis, Short hallux, Miscarriage, Premature ...	OMIM:245150
Lethal Acantholytic Erosive Disorder	Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Cardiomyopathy, Respira...	ORPHA:158687
Myopathy With Extrapyramidal Signs	Splenomegaly, Hepatomegaly, Leukocytosis, Ventricular septal defect	OMIM:615673
Opitz Gbbb Syndrome	Enlarged ovaries, Ventricular septal defect, Tracheomalacia, Patent foramen ovale, Patent ductus ...	ORPHA:2745
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular...	OMIM:617168
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Neonatal respiratory distress, Ventricular septal ...	OMIM:214100
Limb Body Wall Complex	Ventricular septal defect, Broad hallux, Aplasia/hypoplasia involving bones of the upper limbs, A...	ORPHA:2369
Sandifer Syndrome	Abnormal posturing, Torticollis	ORPHA:71272
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Recurrent respiratory infections, Respiratory distress, V...	ORPHA:209905
Meckel Syndrome, Type 6	Absent gallbladder, Occipital encephalocele, Hydrocephalus, Bilobed right lung, Anencephaly, Clef...	OMIM:612284
Enlarged Parietal Foramina	Cleft palate, Short clavicles, Abnormal cerebral vein morphology, Broad thumb, Venous malformation	ORPHA:60015
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Focal Dermal Hypoplasia	Finger syndactyly, Coarse metaphyseal trabecularization, Toe syndactyly, Ventricular septal defec...	ORPHA:2092
Adams-Oliver Syndrome 1	Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Pulmonary...	OMIM:100300
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Cleft palate	ORPHA:261190
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Intracranial ...	ORPHA:369929
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Hepatic steatosis, Cardiomegaly	OMIM:255120
Alg9-Cdg	Villous atrophy, Abnormal lung lobation, Right ventricular dilatation, Abnormal left ventricular ...	ORPHA:79328
Codas Syndrome	Short humerus, Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Metaphyse...	OMIM:600373
Scleromyxedema	Abnormality of the gastrointestinal tract, Abnormal coronary artery morphology, Transient ischemi...	ORPHA:167635
Vitamin K Antagonist Embryofetopathy	Macroglossia, Myelomeningocele, Hydrocephalus, Respiratory insufficiency	ORPHA:1914
Loeys-Dietz Syndrome 5	Ventricular septal defect, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus ...	OMIM:615582
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Furrowed tongue,...	OMIM:616975
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Abnormal metacarpophalangeal joint morphology, Portal hypertens...	ORPHA:465508
Trichohepatoenteric Syndrome 1	Hepatomegaly, Villous atrophy, Ventricular septal defect, Increased mean platelet volume, Avascul...	OMIM:222470
Refsum Disease, Classic	Cardiomyopathy, Short fourth metatarsal, Cardiomegaly	OMIM:266500
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
X Small Rings	Toe syndactyly, Ventricular septal defect, Bicuspid aortic valve, Tapered finger, 2-3 toe syndact...	ORPHA:96201
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Hi...	OMIM:271640
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
De Barsy Syndrome	Recurrent sinopulmonary infections, Congenital hip dislocation, Ventricular septal defect, Crypto...	ORPHA:2962
Pontocerebellar Hypoplasia, Type 8	Gastroesophageal reflux, Ventricular septal defect, Patent foramen ovale, Dysphagia	OMIM:614961
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Sandal gap, Supernumerary nipple, Cryptorchidism, 3-4 finger cutaneous...	OMIM:612530
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	High palate, Patent ductus arteriosus, Ventricular septal defect, Cleft palate	ORPHA:52055
Mucopolysaccharidosis Type 1	Recurrent respiratory infections, Sinusitis, Abnormal heart valve morphology, Apnea, Abnormality ...	ORPHA:579
Koolen-De Vries Syndrome	Prominent fingertip pads, Bicuspid aortic valve, Ventricular septal defect, Pyloric stenosis, Pat...	OMIM:610443
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Endocardial fibroelastosis	OMIM:600559
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele	ORPHA:1528
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Bresek Syndrome	Neonatal death, Hydrocephalus, Aganglionic megacolon, Cleft palate	ORPHA:85284
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis	ORPHA:2701
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Hypoplastic right heart, Ventricular septal defect, Cryptorchidism, Patent ductus art...	OMIM:616894
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Venous insufficiency, Lymphangioma, Arteriovenous malformation, Ovarian neoplasm	ORPHA:137608
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Abnormal aortic arch morphology, Tibial bowing, Hypoplastic iliac wing, Hepatoblastoma, Atrial se...	ORPHA:96334
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Toe syndactyly, Ventricular septal defect, Bicuspid aortic valve, Proximal placement of thumb, Cr...	OMIM:610759
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Recurrent pneumonia, 2-3 toe syndactyly, Cleft palate, Furrowed tongue...	OMIM:616449
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Ventricular septal defect, Microvesicul...	OMIM:619418
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Dysphagia, Inspiratory stridor	OMIM:207950
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism	ORPHA:743
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Short femur, Cardiomegaly, Pneumothorax, Pulmonary hypoplasia, Short tibia	OMIM:620306
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aplasia/Hypoplasia of the ribs, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal def...	ORPHA:508498
Familial Visceral Myopathy	Hyperparathyroidism, Aganglionic megacolon, Arachnodactyly, Camptodactyly of finger, Cleft palate...	ORPHA:2604
Weill-Marchesani Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Narrow palate, Pulmonic stenosis, Broad phal...	OMIM:277600
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio...	OMIM:613426
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Respiratory distress, Ventricular sep...	ORPHA:79329
Costello Syndrome	Ventricular septal defect, Cryptorchidism, Narrow palate, Mitral valve prolapse, Ulnar deviation ...	ORPHA:3071
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect, Supernumerary nipple, Patent ductus arteriosus, 2-3 toe syndactyly, Cl...	OMIM:106260
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Gastrointestinal dysmotility, Dysphagia, Cardiomegaly	ORPHA:391428
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Biemond Syndrome Type 2	Hydrocephalus	ORPHA:141333
Alexander Disease Type I	Hydrocephalus, Dysphagia	ORPHA:363717
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Left ventricular hypertrophy, Pulmonary art...	OMIM:615474
Alagille Syndrome 1	Hypoplasia of the ulna, Ventricular septal defect, Abnormal rib morphology, Cholestasis, Coarctat...	OMIM:118450
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax...	ORPHA:538
Doors Syndrome	11 pairs of ribs, Respiratory distress, Adrenal hyperplasia, Aplasia/Hypoplasia of the phalanges ...	ORPHA:79500
Bohring-Opitz Syndrome	Recurrent respiratory infections, Apnea, Cardiomegaly, Cleft palate, Abnormal cardiac septum morp...	ORPHA:97297
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Ventricular septal defect, Overlapping toe, Splenomegaly, Patent ductus arteriosus,...	OMIM:618268
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Cryptorchidism, Subvalvular aortic stenosis, Atrial septal defect, Per...	OMIM:613001
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Congenital hip dislocation, Ulnar deviation of the 3rd finger, Proximal placement o...	ORPHA:456312
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration, Autoimmune thrombocytopenia	OMIM:245200
Hec Syndrome	Communicating hydrocephalus, Cardiomyopathy, Respiratory insufficiency, Endocardial fibroelastosis	ORPHA:2119
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary artery, Duodenal atresia	ORPHA:1203
Diamond-Blackfan Anemia	Radial artery aplasia, Pure red cell aplasia, Reticulocytopenia, Leukopenia, High palate, Triphal...	ORPHA:124
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Postaxial hand polydactyly, Hypoplasia of t...	OMIM:200995
Marshall-Smith Syndrome	Apnea, Bilateral cryptorchidism, Distal widening of metacarpals, Coxa vara, Anteriorly placed anu...	OMIM:602535
Central Precocious Puberty In Male	Hydrocephalus	ORPHA:649929
Matthew-Wood Syndrome	Cryptorchidism, Abnormal lung morphology, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, ...	ORPHA:2470
Thanatophoric Dysplasia Type 1	Hydrocephalus, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Atrial septal defect, ...	ORPHA:1860
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Ventriculomegaly	OMIM:618577
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus, High palate	OMIM:300558
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Hypoplasia of first ribs, Foot oligodactyly, Triphalangeal thumb...	OMIM:154400
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Jejunoileal ulcer...	ORPHA:436252
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing	OMIM:614857
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Arachnodactyly, Cardiomegaly, Thin metatarsal cortices, Thin ribs, Slender long bone, Abnormal th...	ORPHA:2463
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep...	ORPHA:699
Myhre Syndrome	Hypoplastic iliac wing, Atrial septal defect, Broad ribs, Pericardial effusion, Cryptorchidism, P...	OMIM:139210
Thanatophoric Dysplasia, Type I	Neonatal death, Hydrocephalus, Neonatal respiratory distress, Pulmonary hypoplasia	OMIM:187600
2Q31.1 Microdeletion Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Ventricular septal defect, Abnormal morp...	ORPHA:251014
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect, Dysphagia	OMIM:618325
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Abnormal mast cell morphology, Cleft palate	ORPHA:398189
Congenital Sialidosis Type 2	Hepatomegaly, Protruding tongue, Respiratory tract infection, Hydrocephalus, Hepatosplenomegaly, ...	ORPHA:93400
Orotic Aciduria	Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res...	OMIM:258900
Diamond-Blackfan Anemia 1	Reticulocytopenia, High palate, Triphalangeal thumb, Neutropenia, Atrial septal defect, Congenita...	OMIM:105650
Houge-Janssens Syndrome 1	Pyloric stenosis, Hydrocephalus, Ventriculomegaly	OMIM:616355
Mitchell-Riley Syndrome	Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Biliary atresia, Chol...	OMIM:615710
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Tracheoesophageal fistula, Coarctation of aorta, Foot polydactyly, Sho...	ORPHA:268249
Lowry-Maclean Syndrome	Abnormality of the abdominal organs, Hydrocephalus, High, narrow palate, Pyloric stenosis, Midgut...	ORPHA:2409
Dysosteosclerosis	Abnormal metaphysis morphology, Ventricular septal defect, Coarse metaphyseal trabecularization	ORPHA:1782
22Q11.2 Deletion Syndrome	Anorectal anomaly, Abnormal lung lobation, Abnormal aortic arch morphology, Gastroesophageal refl...	ORPHA:567
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Cardiomegaly, High, narrow palate, Abnormal finger m...	ORPHA:3472
1Q44 Microdeletion Syndrome	Intestinal malrotation, Hydrocephalus, Abnormal cardiac septum morphology, High palate, Ventricul...	ORPHA:238769
Mucolipidosis Ii Alpha/Beta	Cardiomegaly, Metaphyseal widening, Death in childhood, Hepatomegaly, Split hand, Flat acetabular...	OMIM:252500
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Cardiomyopathy, Macroglossia, V...	ORPHA:370959
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex...	OMIM:601346
Atelosteogenesis Type I	Short femur, Malrotation of colon, Abnormal ossification involving the femoral head and neck, Abn...	ORPHA:1190
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Weill-Marchesani Syndrome 2	Short metacarpal, Ventricular septal defect, Patent ductus arteriosus, Short metatarsal, Narrow p...	OMIM:608328
Leopard Syndrome 1	Missing ribs, Complete atrioventricular canal defect, Cryptorchidism, Cleft palate, Mitral valve ...	OMIM:151100
Radial Aplasia, X-Linked	Hydrocephalus, Anal atresia	OMIM:312190
Autosomal Dominant Polycystic Kidney Disease	Polycystic liver disease, Pancreatic cysts, Mitral valve prolapse, Dilatation of the cerebral art...	ORPHA:730
L1 Syndrome	Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon	ORPHA:275543
Fanconi Anemia, Complementation Group N	Aplastic anemia, Short thumb, Ventricular septal defect	OMIM:610832
Kaufman Oculocerebrofacial Syndrome	Neonatal respiratory distress, Congenital hip dislocation, Ventricular septal defect, Intestinal ...	OMIM:244450
Pancreatic And Cerebellar Agenesis	Death in infancy, Apnea, Secundum atrial septal defect, Overlapping fingers, Pancreatic hypoplasi...	OMIM:609069
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Fg Syndrome Type 1	Anal atresia, Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Hydroc...	ORPHA:93932
Osteopathia Striata With Cranial Sclerosis	Anal stenosis, Ventricular septal defect, Intestinal malrotation, Arachnodactyly, Apnea, Tracheom...	OMIM:300373
Familial Multiple Nevi Flammei	Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage, Pulmonary embolism	ORPHA:624
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:615879
Combined Oxidative Phosphorylation Deficiency 33	Left ventricular hypertrophy, Cardiomyopathy, Hepatomegaly, Cardiomegaly	OMIM:617713
Spondylo-Ocular Syndrome	Ventricular septal defect	ORPHA:85194
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep...	OMIM:619377
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly, Cryptorchid...	ORPHA:96191
3Q29 Microduplication Syndrome	Toe syndactyly, Ventricular septal defect, Sandal gap, Cleft palate, Ectopic anus, High palate, C...	ORPHA:251038
Crouzon Syndrome	Narrow palate, Hydrocephalus, Respiratory insufficiency	ORPHA:207
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Proximal placement of thumb, Cryptorchidism, Dilated cardiomyopathy, H...	ORPHA:261250
Gjc2-Related Late-Onset Primary Lymphedema	Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ...	ORPHA:568051
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Epistaxis, Pulmonary arteriovenous malformation, Cerebral ar...	OMIM:175050
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus, Respiratory insufficiency, Abnormal heart morphology, Cleft palate,...	ORPHA:1865
Lymphatic Malformation 6	Splenomegaly, Hydrocele testis, Varicose veins, Pleural effusion, Gastroesophageal reflux, Chylot...	OMIM:616843
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
B4Galt1-Cdg	Splenomegaly, Hepatomegaly, Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Coffin-Siris Syndrome	Ventricular septal defect, Hepatoblastoma, Cryptorchidism, Patent ductus arteriosus, Recurrent up...	ORPHA:1465
Cornelia De Lange Syndrome 1	Proximal placement of thumb, High, narrow palate, High palate, Gastroesophageal reflux, Phocomeli...	OMIM:122470
Hallermann-Streiff Syndrome	Tracheomalacia, High, narrow palate, Cryptorchidism, Small hand, Respiratory insufficiency, Short...	ORPHA:2108
Cohen Syndrome	Finger syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the tongue, Arachnodactyly, T...	ORPHA:193
Cerebrocostomandibular Syndrome	Death in infancy, Neonatal respiratory distress, Ventricular septal defect, Tracheomalacia, Poste...	ORPHA:1393
Mirage Syndrome	Thrombocytopenia, Hydrocephalus, Esophageal stricture, Leukopenia, Gastroesophageal reflux, Aspir...	OMIM:617053
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus	ORPHA:380
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Gastrointestinal dysmotility, 2-3 toe cutaneous syndactyly, Abnormal...	OMIM:270400
Noonan Syndrome 4	Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Hypertrophic ...	OMIM:610733
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Nephronophthisis 18	Hydrocephalus, Portal fibrosis, Cholestasis	OMIM:615862
Radio-Tartaglia Syndrome	Ventricular septal defect, Tapered finger, High, narrow palate, High palate, Gastroesophageal ref...	OMIM:619312
Bent Bone Dysplasia Syndrome 2	Hepatomegaly, Bowed humerus, Ulnar bowing, Hypoplastic acetabulae, Femoral bowing, Thin ribs, Sho...	OMIM:620076
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Gastrointestinal ...	OMIM:617798
Icf Syndrome	Communicating hydrocephalus, Recurrent respiratory infections, Abnormality of neutrophils, Protru...	ORPHA:2268
Cerebellofaciodental Syndrome	Ventricular septal defect, Tapered finger, Cryptorchidism, Shortening of all distal phalanges of ...	OMIM:616202
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Recurrent respiratory infections, Thrombocytopenia, Hydrocephalus, Abnormal...	ORPHA:505248
Edinburgh Malformation Syndrome	Hydrocephalus, Respiratory insufficiency	ORPHA:1895
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus, Respiratory insufficiency	ORPHA:93262
Schinzel-Giedion Syndrome	Respiratory distress, Tibial bowing, Anteriorly placed anus, High palate, Hepatoblastoma, Broad r...	ORPHA:798
Holoprosencephaly	Brachydactyly, Median cleft lip and palate, Ventricular septal defect, Abnormal pulmonary valve m...	ORPHA:2162
Eisenmenger Syndrome	Respiratory distress, Aortopulmonary window, Iron deficiency anemia, Abnormality of the liver, Ba...	ORPHA:97214
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hydrocephalus, Hepatosplenomegaly, Anemia, Chronic rh...	OMIM:259710
Joubert Syndrome 14	Intracranial hemorrhage, Postaxial polydactyly, Ventricular septal defect, Cleft palate	OMIM:614424
3Mc Syndrome 1	Ventricular septal defect, Single interphalangeal crease of fifth finger, Supernumerary nipple, P...	OMIM:257920
Amyloidosis, Hereditary, Transthyretin-Related	Stroke-like episode, Pulmonary edema, Cardiomyopathy, Cardiomegaly	OMIM:105210
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	High, narrow palate, Hydrocephalus	ORPHA:2181
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Ventricular septa...	OMIM:134780
Larsen Syndrome	Short metacarpal, Ventricular septal defect, Spatulate thumbs, Tracheomalacia, Cryptorchidism, Ac...	OMIM:150250
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Ventriculomegaly, Thrombocytopenia, Leu...	OMIM:259720
Fucosidosis	Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Coxa valga, Splenomegaly, Vacuolate...	OMIM:230000
Digeorge Syndrome	High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, High palate, Gastroesoph...	OMIM:188400
Coffin-Siris Syndrome 4	Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Cleft palate, Prominent inte...	OMIM:614609
Lateral Meningocele Syndrome	Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Cleft...	OMIM:130720
Temple Syndrome	Hydrocephalus, Bifid uvula	ORPHA:254516
Ulnar-Mammary Syndrome	Deformed radius, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd m...	OMIM:181450
Chromosome 14Q11-Q22 Deletion Syndrome	Ventricular septal defect, Anterior pituitary hypoplasia, Unilateral cryptorchidism, Bilateral cr...	OMIM:613457
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Pericardial effusion, Hydrocephalus, High palate, Pleural effusion, Dandy-Walke...	OMIM:617822
Rubinstein-Taybi Syndrome 1	Respiratory distress, Bilateral cryptorchidism, High, narrow palate, Aortic isthmus hypoplasia, H...	OMIM:180849
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Ventricular septal defect, Cryptorchidism, Patent ductus arteri...	OMIM:609942
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Apnea, Cardiomegaly, Secundum atrial septal de...	OMIM:300855
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, 2-3 to...	OMIM:618454
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Spontaneous, recurrent epistaxis, Mitral valve calcification, Pancytopenia, Aortic...	ORPHA:2072
Temple Syndrome	Hydrocephalus, High palate, Bifid uvula, Cleft palate	OMIM:616222
Tetrasomy 15Q26	Atrial septal defect, Hydrocephalus, High palate, Dandy-Walker malformation	OMIM:614846
Mucopolysaccharidosis Type 3	Hepatomegaly, Recurrent sinopulmonary infections, Cardiomegaly, Malabsorption, Splenomegaly, Aden...	ORPHA:581
16P13.11 Microdeletion Syndrome	Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Cryptorchidism, Cleft pala...	ORPHA:261236
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly	ORPHA:349
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Donnai-Barrow Syndrome	Short sternum, Ventricular septal defect, Intestinal malrotation	OMIM:222448
Stromme Syndrome	Accessory spleen, Jejunal atresia, Intestinal malrotation, Hydrocephalus, Cleft palate, Stillbirt...	OMIM:243605
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Thyroid hypoplasia, Recurrent respiratory infections, Ventricular septal defe...	ORPHA:3047
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Ventricular septal defect, Cryptorchidism, Submucous cleft hard palate, Unilateral cleft palate, ...	OMIM:619103
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Ventricular septal defect, Broad hallux, Cryptorchidism, Slender finger, Small hand, Cleft palate...	ORPHA:251028
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen co...	OMIM:261740
Degcags Syndrome	Oral-pharyngeal dysphagia, Leukopenia, Iron deficiency anemia, High palate, Gastroesophageal refl...	OMIM:619488
Opitz Gbbb Syndrome	Ventricular septal defect, Rectourethral fistula, Cryptorchidism, Cleft palate, High palate, Gast...	OMIM:300000
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly	ORPHA:2182
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, Recurrent upper respi...	OMIM:253220
Pfeiffer Syndrome Type 2	Respiratory distress, Intestinal malrotation, Aqueductal stenosis, Hydrocephalus, Cleft palate, H...	ORPHA:93259
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypoplastic aortic arch, Coa...	OMIM:617506
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Hydrocephalus, Respiratory failure, Gastroesophageal reflux,...	OMIM:616482
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Short fourth metatarsal, Brachydactyly, Cardiomegaly, Cryptorchidism, Macroglossia,...	OMIM:618143
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal thumb morphology,...	ORPHA:500095
Den Hoed-De Boer-Voisin Syndrome	Lactose intolerance, Sandal gap, Ventricular septal defect, Small hand, 2-3 toe syndactyly, Death...	OMIM:619229
Genitopalatocardiac Syndrome	Hydrocephalus, Abnormal mesentery morphology, Abnormality of the gallbladder, Cleft palate, Abnor...	ORPHA:2075
Simpson-Golabi-Behmel Syndrome	Congenital hip dislocation, High, narrow palate, Hepatoblastoma, Clinodactyly of the 5th finger, ...	ORPHA:373
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Ventricular septal defect, Gastroesophageal reflux, Camptodactyly, Atrial septal defect, Clinodac...	OMIM:617360
Williams-Beuren Region Duplication Syndrome	Hydrocephalus, High palate, Ventriculomegaly	OMIM:609757
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Death in infancy, Ventricular septal defect, Metat...	OMIM:614866
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Lym...	OMIM:619991
Van Esch-O'Driscoll Syndrome	Ventricular septal defect, Esophageal atresia, Pulmonary artery stenosis, Tracheoesophageal fistu...	OMIM:301030
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Submucou...	OMIM:300967
Hurler Syndrome	Recurrent respiratory infections, Hepatomegaly, Abnormal heart valve morphology, Abnormality of t...	ORPHA:93473
Proteus-Like Syndrome	Thymus hyperplasia, Venous insufficiency, Splenomegaly, Abnormality of the parathyroid gland, Pol...	ORPHA:2969
Campomelia, Cumming Type	Hepatomegaly, Bowing of the long bones, Death in infancy, Pancreatic cysts, Abnormality of the pa...	ORPHA:1318
Orofaciodigital Syndrome I	Syndactyly, Hepatic cysts, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Abnormal heart mo...	OMIM:311200
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormal venous morphology, Macrodactyly, Abnormal cerebral vascular morphology, 2-4 toe syndacty...	ORPHA:276280
Cortical Dysplasia, Complex, With Other Brain Malformations 11	High, narrow palate, Hydrocephalus, Ileus, Colpocephaly, High palate, Ventriculomegaly	OMIM:620156
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Protruding tongue, Tapered finger, Cryptorchidism, Coxa valga, Reduced...	OMIM:301040
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Tachypnea, Cleft palate, Stroke-like episo...	ORPHA:137675
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Cryptorchidism, Splenomegaly, Abnormal pancreas morphology, Pseudohyp...	ORPHA:116
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hydrocephalus	ORPHA:171839
Distal Deletion 19P	Long toe, Ventricular septal defect, Arachnodactyly, Cleft palate, Tricuspid valve prolapse, Pulm...	ORPHA:96129
Chromosome 16P13.3 Duplication Syndrome	Ventricular septal defect, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Sanda...	OMIM:613458
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Hydrocephalus, Colpocephaly, High palate, Gastroesophageal reflux, Ventriculomegaly	OMIM:619833
Senior-Loken Syndrome 8	Hepatic cysts, Pancreatic cysts, Vascular dilatation, Polydactyly, Intrahepatic bile duct dilatation	OMIM:616307
Coccidioidomycosis	Respiratory distress, Pericarditis, Pneumonia, Eosinophilia, Abnormality of the spleen, Mediastin...	ORPHA:228123
Joubert Syndrome With Hepatic Defect	Hepatomegaly, Occipital encephalocele, Apnea, Portal hypertension, Congenital hepatic fibrosis, S...	ORPHA:1454
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Abnormal lung lobation, Gastroesophageal reflux, Atrial septal defec...	ORPHA:818
Cutis Laxa, Autosomal Dominant 1	Ventricular septal defect, Dyspnea, Bronchiectasis, Emphysema, Peripheral pulmonary artery stenosis	OMIM:123700
Rhombencephalosynapsis	Ventriculomegaly, Aganglionic megacolon, Esophageal atresia, Hydrocephalus, Tracheoesophageal fis...	ORPHA:59315
Hurler Syndrome	Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Hydrocephalus, Enlarged tonsils, He...	OMIM:607014
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hiatus hernia, Overlappin...	OMIM:616682
Tenorio Syndrome	Apnea, Hydrocephalus, Recurrent pneumonia, Macroglossia, Gastroesophageal reflux, Ventriculomegaly	OMIM:616260
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Hydrocephalus, Abnormality of the liver, Increased mean corpuscu...	ORPHA:2169
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Ankyloglossia, Hydrocephalus	OMIM:602361
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly	OMIM:619259
Distal Triplication 15Q	Hydrocephalus, Abnormal heart morphology, High palate, Pulmonary hypoplasia, Atrial septal defect...	ORPHA:314588
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Atrial septal defect, Ventriculomegaly,...	OMIM:615219
Desmosterolosis	Intestinal malrotation, Splenomegaly, Hydrocephalus, Submucous cleft hard palate, Anomalous pulmo...	ORPHA:35107
Microphthalmia, Syndromic 3	Ventricular septal defect, Anterior pituitary hypoplasia, Missing ribs, Esophageal atresia, Paten...	OMIM:206900
Milroy Disease	Hydrocele testis, Varicose veins, Abnormal venous morphology	ORPHA:79452
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Hydrocephalus, High palate, Pulmonary hyp...	ORPHA:3309
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic...	OMIM:617052
Occipital Horn Syndrome	Venous insufficiency, High, narrow palate, Coxa vara, Humerus varus, Gastroesophageal reflux, Sho...	ORPHA:198
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Neonatal respiratory distress, Cardiomegaly, High, narrow palate, Hydrocephalus, He...	ORPHA:228308
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Hydrocephalus, Cleft palate, Abnormal heart morphology, Anteriorly placed ...	OMIM:239300
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Ventricular septal defect, Decreased response to growth hormone stim...	ORPHA:488632
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Hematemesis, Pancreatic cysts, Splenomegaly, Esophageal varix,...	OMIM:263200
Robinow Syndrome	Syndactyly, Brachydactyly, Ventricular septal defect, Bifid distal phalanx of the thumb, Missing ...	ORPHA:97360
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a...	OMIM:613795
Fanconi Anemia, Complementation Group C	Pancytopenia, Ventricular septal defect, Absent thumb, Absent radius, Cryptorchidism, Thrombocyto...	OMIM:227645
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abdominal situs inversus	ORPHA:2062
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Cleft palate, Atrial septal defect, Aortic valve stenosis, Dandy-Walker malformation	ORPHA:459061
Trisomy 18	Ventricular septal defect, Camptodactyly of finger, Esophageal atresia, Cryptorchidism, Postaxial...	ORPHA:3380
Trisomy 17P	Hydrocephalus, Cleft palate, Macroglossia, High palate, Hypoplastic left heart, Aortic valve sten...	ORPHA:261290
Axenfeld-Rieger Syndrome, Type 2	Anal stenosis, Hydrocephalus, Abnormal heart morphology	OMIM:601499
Joubert Syndrome With Renal Defect	Encephalocele, Apnea, Aganglionic megacolon, Hydrocephalus, Cleft palate, Abnormal pattern of res...	ORPHA:220497
Fanconi Anemia, Complementation Group R	Anal atresia, Hydrocephalus, Bone marrow hypocellularity, Anemia	OMIM:617244
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Decreased response to growth hormone stimulation test, Patent ductus a...	ORPHA:444077
Microphthalmia With Limb Anomalies	Venous insufficiency, Tibial bowing, Camptodactyly of 2nd-5th fingers, High palate, Foot oligodac...	ORPHA:1106
Townes-Brocks Syndrome 1	Short metatarsal, Gastroesophageal reflux, Triphalangeal thumb, Atrial septal defect, 2-4 finger ...	OMIM:107480
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Ventricular septal defect, Metaphyseal chondrodysplasia,...	OMIM:250410
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Ventricular septal defect, Tarsal synostosis, Cleft palate, Cutaneous finger syn...	OMIM:178110
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Gastroesophageal reflux, Atrial septal defect, Broad hallux, Cryptorchidis...	ORPHA:353281
Gaucher Disease	Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Abnormal...	ORPHA:355
Plasminogen Deficiency, Type I	Duodenal ulcer, Hydrocephalus, Recurrent upper respiratory tract infections, Dandy-Walker malform...	OMIM:217090
Acquired Aneurysmal Subarachnoid Hemorrhage	Leukocytosis, Hyperglycorrhachia, Hydrocephalus, Increased CSF lactate, Left ventricular hypertrophy	ORPHA:90065
Pallister-Hall Syndrome	Gonadotropin deficiency, Abnormal lung lobation, Atrial septal defect, Atrioventricular canal def...	ORPHA:672
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Abnormal hip joint morphology, Respiratory distress, Medial calcificatio...	ORPHA:51608
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Teebi-Shaltout Syndrome	Syndactyly, Ventricular septal defect, Rocker bottom foot, Metatarsus adductus, High, narrow pala...	OMIM:272950
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Neonatal respiratory distress, Ventricular septal defect, Apnea, Stridor, High palate, Gastroesop...	OMIM:614653
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Phelan-Mcdermid Syndrome	Ventricular septal defect, Patent ductus arteriosus, 2-3 toe syndactyly, High palate, Gastroesoph...	OMIM:606232
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Hydrocephalus, Anemia	ORPHA:53
Parkes Weber Syndrome	Abnormal femoral metaphysis morphology, Peripheral arteriovenous fistula, Cerebral arteriovenous ...	ORPHA:90307
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Short toe...	ORPHA:1519
Hogue-Janssen Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:616362
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Ventricular septal defect, Anterior pituitary hypoplasia, Arachnod...	ORPHA:464306
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Ventricular septal defect, Bicuspid aortic valve, Intestinal ps...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Ventricular septal defect, Bicuspid aortic valve, Intestinal ps...	ORPHA:352665
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydrocephalus, Cleft palate, Hydranencephaly, Dandy-Walker malformation, Ventriculomegaly	OMIM:225790
Joubert Syndrome With Oculorenal Defect	Encephalocele, Aganglionic megacolon, Apnea, Hydrocephalus, Tachypnea	ORPHA:2318
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Intestinal malrotation, Hydrocephalus, Abnormal lung lobation, Cleft palate, Abnor...	ORPHA:2166
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Homozygous Familial Hypercholesterolemia	Hepatic steatosis, Precocious atherosclerosis, Abnormal internal carotid artery morphology, Dyspn...	ORPHA:391665
Renal Agenesis	Ventricular septal defect, Pulmonary hypoplasia, Anal atresia	ORPHA:411709
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Tibial bowing, Shoulder dislocation, High palate, Short phalanx of finger, Dislocated radial head...	OMIM:143095
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Tapered finger, Cryptorchidism, Mitral valve prolapse, Ascending tubul...	ORPHA:444072
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Villous atrophy, Sideroblastic anemia, Pancreatic fibrosis, Pancytopenia, Malabsorp...	OMIM:557000
Multiple Sulfatase Deficiency	Hepatomegaly, Splenomegaly, Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly	OMIM:272200
Combined Oxidative Phosphorylation Deficiency 15	Respiratory arrest, Ventricular septal defect, Ventricular septal hypertrophy, Small hand	OMIM:614947
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia of the lungs, Hydrocephalus, Abnormal lung lobation, Anal atresia	ORPHA:3301
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus, High palate	ORPHA:2180
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Hi...	OMIM:163950
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Splenomegaly, Hydrocephalus, Anemia, Thrombocytopenia	OMIM:259700
Cryptococcosis	Respiratory distress, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, M...	ORPHA:1546
Kabuki Syndrome 1	Hemolytic anemia, Anal stenosis, Congenital hip dislocation, Ventricular septal defect, Intestina...	OMIM:147920
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus	OMIM:307000
H Syndrome	Microcytic anemia, Malabsorption, Recurrent pharyngitis, Hydrocephalus, Bronchiectasis, Hepatospl...	ORPHA:168569
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Abnormal lung lobation, High palate, Gastroesophageal reflux, Atrial septa...	OMIM:607872
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia, Ventricular septal defect, Bowing of the legs, Mitral valve prolapse, Macr...	OMIM:617107
Congenital Disorder Of Glycosylation, Type Iia	Ventricular septal defect, Proximal placement of thumb, Coxa valga, Protruding tongue, Slender lo...	OMIM:212066
Hajdu-Cheney Syndrome	Hepatomegaly, Coarse metaphyseal trabecularization, Brachydactyly, Ventricular septal defect, Mit...	ORPHA:955
Zttk Syndrome	Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Patent ductus arteriosus...	OMIM:617140
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Ventricular septal defect, Broad hallux, 1-2 toe syndactyly, Tapered finger, Partial anomalous pu...	OMIM:301044
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, High palate, Gastroesophageal reflux, Atrial septal defect, Aspiration, Pa...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, High palate, Gastroesophageal reflux, Atrial septal defect, Aspiration, Pa...	ORPHA:353277
Aceruloplasminemia	Refractory anemia, Abnormal pancreas morphology, Hypochromic microcytic anemia, Hepatic fibrosis,...	ORPHA:48818
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hamartoma of tongue, Hydrocephalus, Anencephaly, Cleft palate, Pulmonary hypoplasia, Atrial septa...	OMIM:616546
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Pneumonia, Splenomegaly, Hydrocephalus, Recurrent upper respiratory tract infection...	OMIM:253200
Omodysplasia 1	Short humerus, Ventricular septal defect, Increased fibular diameter, Cryptorchidism, Pulmonary a...	OMIM:258315
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Ventricular septal defect	OMIM:619306
Hydrolethalus	Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft palate, Bifid uvula	ORPHA:2189
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect	OMIM:234050
Lateral Meningocele Syndrome	High, narrow palate, High palate, Ventricular septal defect, Cryptorchidism	ORPHA:2789
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventricular septal defect, Tapered finger, Cryptorchidism, Patent ductus arteriosus, Short toe, S...	ORPHA:464311
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Sandal gap, Macrodactyly, Venous malformation	OMIM:612918
Meckel Syndrome, Type 1	Accessory spleen, Occipital encephalocele, Dilated fourth ventricle, Ventriculomegaly, Intestinal...	OMIM:249000
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Ventriculomegaly	OMIM:109120
Oculodentodigital Dysplasia	Finger syndactyly, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Short hall...	ORPHA:2710
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Ventricular septal defect, Tapered finger, Increased femoral anteversion, ...	OMIM:609460
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Dysphagia, Right ventricular hypertrophy, Cardiomegaly	ORPHA:268
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Abnormality of the pancreas, Hydrocephalus, Narrow palate, Cleft palate, An...	ORPHA:1555
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Rectal atresia, Perineal fistula, Rectovaginal fistula, Anal atresia	ORPHA:3016
Arboleda-Tham Syndrome	Respiratory distress, Secundum atrial septal defect, Bilateral cryptorchidism, Gastroesophageal r...	OMIM:616268
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Hallux valgus, Ventricular septal defect, Anterior pituitary hypoplasia, Supernumerary nipple, Bi...	ORPHA:466791
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Ulnar deviation of the 3rd finger, Pancreatic fibrosis, Proximal placement of thumb...	OMIM:616263
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Thrombocytopenia, Respiratory insufficiency	ORPHA:1237
Apert Syndrome	Esophageal atresia, Hydrocephalus, Respiratory insufficiency, Narrow palate, Cleft palate, Ectopi...	ORPHA:87
Vacterl With Hydrocephalus	Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, ...	ORPHA:3412
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Telangiectasia, Hereditary Hemorrhagic, Type 1	Cerebral arteriovenous malformation, Tongue telangiectasia, Venous varicosities of celiac and mes...	OMIM:187300
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Bicuspid aortic valve, Ventricular septal defect, Apnea, Breathing dysregulation...	ORPHA:438213
Congenital Disorder Of Glycosylation, Type Iiw	Hepatic steatosis, Hepatomegaly, Ventricular septal defect, Microcytic anemia, Splenomegaly, Thro...	OMIM:619525
Proteasome-Associated Autoinflammatory Syndrome 1	Hallux valgus, Hepatomegaly, Hypoplastic scapulae, Camptodactyly of finger, Cardiomegaly, Microcy...	OMIM:256040
Congenital Myopathy 22A, Classic	Neonatal death, Normal pressure hydrocephalus, High palate, Respiratory insufficiency	OMIM:620351
Ehlers-Danlos Syndrome, Vascular Type	Nodular pattern on pulmonary HRCT, Finger joint hypermobility, Emphysema, Repeated pneumothoraces...	OMIM:130050
Autosomal Recessive Malignant Osteopetrosis	Recurrent respiratory infections, Hepatomegaly, Apnea, Abnormal pulmonary valve morphology, Splen...	ORPHA:667
Clapo Syndrome	Lymphangioma, Varicose veins, Macrodactyly, Venous malformation	ORPHA:168984
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Hydrocephalus, Abnormality of the lymphatic system, Abnormal heart morphology, Chyloth...	ORPHA:137667
Pontocerebellar Hypoplasia, Type 7	High palate, Hydrocephalus, Apnea, Ventriculomegaly	OMIM:614969
Pancreatitis, Hereditary	Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural effusion, Pancreatitis, Exo...	OMIM:167800
Hajdu-Cheney Syndrome	Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Patent ductus arteriosus, Foot...	OMIM:102500
Vici Syndrome	Macular atrophy, Ocular albinism, Macular hypoplasia, Dysphagia, Abnormal posturing, Hypopigmenta...	OMIM:242840
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Hydrocephalus, Cleft palate, Pulmonic stenosis, Atrial septal defect, Leukemia,...	OMIM:257300
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Recurrent respiratory infections, Ventricular septal defect, High, narrow palate, Hematochezia, P...	OMIM:619575
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Intestinal malrotation, Ventriculomegaly	OMIM:617866
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su...	OMIM:619268
Opitz-Kaveggia Syndrome	Anal stenosis, Intestinal malrotation, Pyloric stenosis, Hydrocephalus, Cleft palate, Abnormal he...	OMIM:305450
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic micr...	OMIM:616084
Costello Syndrome	Hyperextensibility of the finger joints, Ventricular septal defect, Tracheomalacia, Pyloric steno...	OMIM:218040
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Tracheomalacia, Cryptorchidism, Patent ductus arteriosus, Long fingers...	ORPHA:96121
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus	OMIM:601794
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente...	ORPHA:731
Muenke Syndrome	High, narrow palate, Hydrocephalus	ORPHA:53271
Otopalatodigital Syndrome Type 2	Encephalocele, Abnormal heart valve morphology, Myelomeningocele, Hydrocephalus, Cleft palate, Gl...	ORPHA:90652
Coffin-Siris Syndrome 1	Prominent interphalangeal joints, High palate, Prominent fingertip pads, Clinodactyly of the 5th ...	OMIM:135900
Mosaic Trisomy 20	Ventricular septal defect, Down-sloping shoulders, Cryptorchidism, Dysplastic tricuspid valve, Cl...	ORPHA:1724
Abetalipoproteinemia	Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocytosis, Respiratory failure, Hepatic fibrosi...	ORPHA:14
Rabson-Mendenhall Syndrome	Enlarged ovaries, Ventricular septal defect, Furrowed tongue, Cardiomyopathy, Macroglossia, High ...	ORPHA:769
Joubert Syndrome 2	Central apnea, Enlarged fossa interpeduncularis, Encephalocele, Episodic tachypnea, Hydrocephalus...	OMIM:608091
Singleton-Merten Syndrome 1	Recurrent respiratory infections, Mitral valve calcification, Hypoplastic distal radial epiphyses...	OMIM:182250
Histidinemia	Hyperactivity	ORPHA:2157
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Secundum atrial septal defect, Leukemia, Hydrocephalus	OMIM:619951
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Livedoid Vasculopathy	Pancytopenia, Abnormal capillary morphology, Venous insufficiency, Leukocytosis, Varicose veins, ...	ORPHA:542643
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Ventricular septal defect, Intestinal malrotatio...	ORPHA:2729
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Asthma, Hydrocephalus, Gastroesophageal reflux, Dilated third ventricle, Ventriculomegaly	ORPHA:500055
Distal 22Q11.2 Microduplication Syndrome	Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Tapered finger, Cryptorchidis...	ORPHA:261337
Gorlin Syndrome	Hydrocephalus	ORPHA:377
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Respiratory insufficiency due to muscle weakness, Hydrocephalus	OMIM:615249
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus	OMIM:620157
Walker-Warburg Syndrome	Hydrocephalus, Submucous cleft hard palate, Cleft palate, Dandy-Walker malformation, Bifid uvula,...	ORPHA:899
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Yunis-Varon Syndrome	Congenital hip dislocation, Short metatarsal, High palate, Absent hallux, Aspiration pneumonia, P...	OMIM:216340
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Ventricular septal defect, Metatarsus adductus, Osteopathia striata, Cleft palate, Pineal cyst, R...	ORPHA:513456
Cardiofaciocutaneous Syndrome 1	Splenomegaly, Hydrocephalus, Submucous cleft hard palate, High palate, Gastroesophageal reflux, P...	OMIM:115150
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Neonatal respiratory distress, Hydrocephalus, Hepatic calcification, Cardiomyopathy	ORPHA:157
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Respiratory failure	ORPHA:1861
Trichothiodystrophy	Ventricular septal defect, High, narrow palate, Cryptorchidism, Recurrent bronchopulmonary infect...	ORPHA:33364
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, High, narrow palate, Hydrocephalus, Mitral valve prolapse, High pa...	OMIM:616914
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Toe syndactyly, Ventricular septal defect, Tapered finger, Cryptorchidism, Dilatation of the vent...	ORPHA:459070
Orofaciodigital Syndrome Type 1	Finger syndactyly, Brachydactyly, Tarsal synostosis, Hamartoma of tongue, Pancreatic cysts, Abnor...	ORPHA:2750
Familial Gestational Hyperthyroidism	Hyperactivity, Agitation, Hand tremor	ORPHA:99819
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Inflammation of the large intestine...	OMIM:232220
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Repeated pneumothoraces, Atelectasis, Hydrocephalus, Respiratory insufficie...	ORPHA:536467
Fraser Syndrome 3	Hydrocephalus, Stillbirth, Abnormal lung lobation	OMIM:617667
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
Cutis Laxa, Autosomal Recessive, Type Iib	Gastroesophageal reflux, Hydrocephalus, High palate	OMIM:612940
Leigh Syndrome	Ventricular septal defect, Gastrointestinal dysmotility, Dysphagia, Respiratory failure, Neutrope...	ORPHA:506
Monosomy 18Q	Absence of the pulmonary valve, Secundum atrial septal defect, Hydrocephalus, High palate, Pulmon...	ORPHA:1600
Dubowitz Syndrome	Anal stenosis, Abnormality of neutrophils, Malabsorption, Thrombocytopenia, Asthma, Hydrocephalus...	ORPHA:235
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Achondroplasia	Hypoxemia, Restrictive ventilatory defect, Hydrocephalus	ORPHA:15
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Ventricular septal defect, Aplasia of the distal phalanx of the...	OMIM:608670
Oculocerebrocutaneous Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
Multiple Sulfatase Deficiency	Splenomegaly, Hepatomegaly, Hydrocephalus	ORPHA:585
Cardiofaciocutaneous Syndrome	Abnormality of the gastrointestinal tract, Abnormal heart valve morphology, Hydrocephalus, Submuc...	ORPHA:1340
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary embolism, Megaloblastic anemia, Jaundice, Dilated cardiomyopathy,...	ORPHA:79282
Orofaciodigital Syndrome Xiv	Ventricular septal defect, Broad hallux, Hamartoma of tongue, Cryptorchidism, Patent ductus arter...	OMIM:615948
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Atrial septal defect, Hydrocephalus, Upper airway obstruction	OMIM:207410
Koolen-De Vries Syndrome Due To A Point Mutation	Prominent fingertip pads, Anomaly of lower limb diaphyses, Recurrent respiratory infections, Bicu...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Prominent fingertip pads, Anomaly of lower limb diaphyses, Recurrent respiratory infections, Bicu...	ORPHA:363958
Fanconi Anemia	Leukopenia, Abnormality of the liver, High palate, Atrial septal defect, Spina bifida, Aplasia/Hy...	ORPHA:84
Orofaciodigital Syndrome Type 14	Ventricular septal defect, Broad hallux, Hamartoma of tongue, Deviation of the hallux, Bilateral ...	ORPHA:434179
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Finger syndactyly, Ventricular septal defect, Supernumerary nipple, Submucous cleft hard palate, ...	ORPHA:1071
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation, Anemia	OMIM:612301
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Hydrocephalus, Narrow palate, Anteriorly placed anus, High palate, Bifid uv...	OMIM:123790
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Ventricular septal defect, Broad ischia, Diaphyseal dysplasia, Short palm,...	OMIM:619727
Wolf-Hirschhorn Syndrome	Accessory spleen, Rib segmentation abnormalities, Ventricular septal defect, Pseudoepiphyses of t...	OMIM:194190
Glutaric Acidemia I	Hepatomegaly, Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Penile Agenesis	Ventricular septal defect, Rectal fistula, Cryptorchidism, Anorectal anomaly, Tracheoesophageal f...	ORPHA:49
Aicardi-Goutières Syndrome	Cardiomegaly, Neonatal alloimmune thrombocytopenia, Calcification of the aorta, Aortic aneurysm, ...	ORPHA:51
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Overlapping toe, Supernumerary nipple, Cryptorchidism, Hip dislocation...	OMIM:613884
Menkes Disease	Gastrointestinal hemorrhage, Bowing of the long bones, Tarsal synostosis, Malabsorption, Venous i...	ORPHA:565
Genitopatellar Syndrome	Hip contracture, Anal stenosis, Congenital hip dislocation, Ventricular septal defect, Hypoplasti...	OMIM:606170
Pelvis-Shoulder Dysplasia	Spina bifida, Hydrocephalus, Cleft palate, Hydranencephaly, Microglossia	ORPHA:2839
Achondroplasia	Respiratory distress, Hydrocephalus, Upper airway obstruction, Pulmonary hypoplasia	OMIM:100800
Peho Syndrome	Recurrent respiratory infections, Hydrocephalus, Ventriculomegaly	ORPHA:2836
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:60040
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Varicose veins, Macrodactyly, Venous malformation	OMIM:613089
Igg4-Related Submandibular Gland Disease	Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Xerostomia, Enlarged lacrimal glands, Abnorm...	ORPHA:449432
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, High palate, Abnormality of neutrophils, Hypochromic anemia	ORPHA:2720
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Ventricular septal defect, Abnormal pulmonary valve morphology, Cleft soft palate,...	ORPHA:268261
Raine Syndrome	Protruding tongue, Hydrocephalus, Cleft palate, High palate, Pulmonary hypoplasia, Neonatal death	OMIM:259775
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure, Hydrocephalus, Ventriculomegaly	OMIM:616538
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:304340
Cole-Carpenter Syndrome 2	Hydrocephalus, High palate	OMIM:616294
Oxoglutaric Aciduria	Hydrocephalus, Abnormal salivary gland morphology	ORPHA:31
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch...	ORPHA:64744
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Intellectual Developmental Disorder, Autosomal Dominant 65	Noncommunicating hydrocephalus	OMIM:619320
Arachnoiditis	Hydrocephalus	ORPHA:137817
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Dystonia, Retinal degeneration, Tremor, Optic atrophy, Phonic tics, Choreoathetosi...	OMIM:234200
Roberts-Sc Phocomelia Syndrome	Tetraphocomelia, High palate, Atrial septal defect, Phocomelia, Accessory spleen, Syndactyly, Hyp...	OMIM:268300
Iniencephaly	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol...	ORPHA:63259
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ...	OMIM:613154
Alobar Holoprosencephaly	Central apnea, Hydrocephalus, Cleft palate, Abnormal heart morphology, Neural tube defect, Bifid ...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Hydrocephalus, Cleft palate, Abnormal heart morphology, Neural tube defect, Bifid ...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Hydrocephalus, Cleft palate, Abnormal heart morphology, Neural tube defect, Bifid ...	ORPHA:93924
Semilobar Holoprosencephaly	Central apnea, Hydrocephalus, Cleft palate, Abnormal heart morphology, Neural tube defect, Bifid ...	ORPHA:220386
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia,...	OMIM:130650
47,Xyy Syndrome	Asthma, Hydrocephalus	ORPHA:8
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary va...	ORPHA:580
Desmosterolosis	Cleft palate, Hydrocephalus, Total anomalous pulmonary venous return, Ventriculomegaly	OMIM:602398
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Communicating hydrocephalus, Gastroesophageal reflux, Splenic cyst, Ventric...	OMIM:618188
Rabin-Pappas Syndrome	Tracheomalacia, Hypoventilation, Hydrocephalus	OMIM:620155
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Ventricular septal defect, Cryptorchidism, High palate, Pulmonic stenosis, Atrial septal defect, ...	OMIM:607721
Glomuvenous Malformation	Gastrointestinal arteriovenous malformation, Abnormal digit morphology, Arteriovenous malformatio...	ORPHA:83454
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Myocarditis, Adrenal p...	ORPHA:892
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:618476
Fontaine Progeroid Syndrome	Atrial septal defect, Bicuspid aortic valve, Protruding tongue, High, narrow palate, Hydrocephalu...	OMIM:612289
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Cleft palate, Hydrocephalus, Ventriculomegaly	ORPHA:1812
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus, Cleft palate	OMIM:224400
Tetraamelia Syndrome 1	Asplenia, Hydrocephalus, Peripheral pulmonary vessel aplasia, Cleft palate, Pulmonary hypoplasia,...	OMIM:273395
Mowat-Wilson Syndrome	Ventricular septal defect, Pulmonary artery sling, Aganglionic megacolon, Supernumerary nipple, P...	OMIM:235730
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus, High palate, Mitral valve prolapse	OMIM:104350
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Apnea, High, narrow palate, Mitral valve prolapse, Abnormal aortic v...	ORPHA:2462
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Cryptorchidism, Short thumb, Small hand, Anteriorly placed anus, Shor...	OMIM:268400
Fanconi Anemia, Complementation Group L	Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Cleft palate, Bone marrow hypocellu...	OMIM:614083
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Tracheobronchomalacia, ...	OMIM:114290
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Aplasia/Hypoplasia of the pancreas	ORPHA:65288
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Abnormal cardiac septum morphology, High palate, Ankyloglossia	ORPHA:250989
15Q Overgrowth Syndrome	High, narrow palate, Hydrocephalus, High palate, Pulmonary arterial hypertension, Bifid uvula, Da...	ORPHA:314585
Basal Cell Nevus Syndrome 1	Spina bifida, Hydrocephalus, Hamartomatous stomach polyps, Cardiac fibroma, Cardiac rhabdomyoma, ...	OMIM:109400
Pfeiffer Syndrome	Hydrocephalus, High palate	OMIM:101600
Mohr Syndrome	Hydrocephalus, Cleft palate, Tongue nodules, Lobulated tongue, High palate, Bifid tongue	OMIM:252100
Shprintzen-Goldberg Craniosynostosis Syndrome	Hydrocephalus, Narrow palate, Mitral valve prolapse, Gastroesophageal reflux, High palate	OMIM:182212
Medulloblastoma	Neoplasm of the lung, Hydrocephalus, Adenomatous colonic polyposis	ORPHA:616
Crouzon Syndrome	Hydrocephalus, High palate	OMIM:123500
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Foix-Alajouanine Syndrome	Arteriovenous fistula, Venous malformation	ORPHA:79093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Cleft palate, Macroglossia, Ventriculomegaly	OMIM:613150
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Hydrocephalus, Cleft soft palate, Cleft palate	ORPHA:2736
Alexander Disease	Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, High palate, Dysphagia	ORPHA:58
Chromosome 17P13.1 Deletion Syndrome	High, narrow palate, Hydrocephalus, High palate, Spina bifida	OMIM:613776
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Apnea, Ventriculomegaly	ORPHA:395
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus, High palate	OMIM:618590
Cornelia De Lange Syndrome	Proximal placement of thumb, High palate, Gastroesophageal reflux, Clinodactyly of the 5th finger...	ORPHA:199
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Ventricular septal defect, Abnormal tibia morphology, Abnormal heart morphology, Mitra...	ORPHA:363700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Cleft palate, Anal atresia, Dandy-W...	OMIM:236670
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocephalus, Aganglionic megacolon, Ventriculomegaly	OMIM:613603
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Dyspnea, Hydrocephalus, Dilated cardiomyopathy, Mitral valve prolapse, Resp...	ORPHA:2556
Unilateral Polymicrogyria	Pseudobulbar paralysis, Abnormal posturing	ORPHA:268943
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Fraser Syndrome 1	Encephalocele, Abnormal small intestine morphology, Myelomeningocele, Hydrocephalus, Cleft palate...	OMIM:219000
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly	ORPHA:2356
Endocrine-Cerebroosteodysplasia	Hydrocephalus, Median cleft palate, Holoprosencephaly, Ventriculomegaly	OMIM:612651
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip and palate, Alobar holoprosencephaly, Hydrocephalus, Cle...	OMIM:610828
Dural Sinus Malformation	Myelopathy, Hydrocephalus	ORPHA:97339
Cerebrooculonasal Syndrome	Encephalocele, Hydrocephalus, Narrow palate, Cleft palate, High palate, Dandy-Walker malformation...	OMIM:605627
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo...	ORPHA:103918
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Lateral ventricle dilatation, Normal pressure hydrocephalus, High palate	ORPHA:300570
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Hydrocephalus, Bicuspid pulmon...	OMIM:609192
Mend Syndrome	Hydrocephalus, Cleft palate, Abnormal heart morphology, High palate, Aortic valve stenosis, Dandy...	ORPHA:401973
Early Infantile Epileptic Encephalopathy	Ventricular septal defect, Cleft palate, Short finger, Broad finger, Broad phalanx of the toes	ORPHA:1934
Pallister-Killian Syndrome	Congenital hip dislocation, Anteriorly placed anus, Camptodactyly of 2nd-5th fingers, Apneic epis...	OMIM:601803
Aymé-Gripp Syndrome	Pericarditis, Pericardial effusion, Hydrocephalus, Cleft palate, Ventriculomegaly	ORPHA:1272
Peters-Plus Syndrome	Syndactyly, Short metacarpal, Ventricular septal defect, Bilobate gallbladder, Proximal placement...	OMIM:261540
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Spontaneous hemolytic crises, Jaundice, Hepatosplenomegaly, Stomatoc...	ORPHA:168577
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules, Dysphagia	ORPHA:25
Sturge-Weber Syndrome	Hydrocephalus, Dysphagia, Pulmonary embolism	ORPHA:3205
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus, Achalasia	OMIM:616007
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:614643
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Broad toe, Ventricular septal defect, Tapered finger, Cryptorchidism, Patent ductus arteriosus, S...	OMIM:619522
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Atrial septal defect, Hydrocephalus, High palate, Aqueductal stenosis	OMIM:619512
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Rectal abscess	OMIM:600145
Functioning Gonadotropic Adenoma	Hydrocephalus	ORPHA:91348
Osteogenesis Imperfecta	Abnormal endocardium morphology, Neonatal respiratory distress, Ventriculomegaly, Intestinal obst...	ORPHA:666
Cousin Syndrome	Hydranencephaly, Hydrocephalus, Microglossia, Cleft palate	OMIM:260660
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Cleft hard palate, Asplenia, Calcaneovalgus deformity, Abnormality of the ...	ORPHA:261552
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hepatic steatosis, Ventricular septal defect, Bicuspid aortic valve, High, narrow palate, Short u...	OMIM:619475
Monosomy 9Q22.3	Hydrocephalus, Cardiac fibroma, Ventriculomegaly	ORPHA:77301
Craniofacial Microsomia 1	Ventricular septal defect, Patent ductus arteriosus, Partial duplication of thumb phalanx, Cleft ...	OMIM:164210
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:277400
Kabuki Syndrome	Hydrocephalus, Cleft palate, Abnormal cardiac septum morphology, High palate, Ventriculomegaly	ORPHA:2322
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Ventricular septal defect, Sandal gap, Long fingers, Asthma, Recurrent pneumonia, Cutaneous synda...	OMIM:620330
Fetal Akinesia Deformation Sequence 1	High, narrow palate, Hydrocephalus, Cleft palate, Stillbirth, High palate, Pulmonary hypoplasia	OMIM:208150
Lhermitte-Duclos Disease	Macroglossia, Hydrocephalus	ORPHA:65285
Pseudoaminopterin Syndrome	Asplenia, High palate, Hydrocephalus, Patent foramen ovale	ORPHA:221120
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Hydrocephalus, Anteriorly placed anus, Stillbirth, Gastroesophageal reflux	ORPHA:95699
Tuberous Sclerosis Complex	Respiratory distress, Respiratory tract infection, Noncommunicating hydrocephalus, Cardiac rhabdo...	ORPHA:805
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Pancytopenia, Pneumonia, Hepatosplenomegaly, Macroglossia, Recurrent...	ORPHA:309282
Osteoporosis-Pseudoglioma Syndrome	Metaphyseal widening, Ventricular septal defect, Tibial bowing	OMIM:259770
Sotos Syndrome	Hip contracture, Ventricular septal defect, Aganglionic megacolon, Cryptorchidism, Patent ductus ...	ORPHA:821
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Pyloric stenosis, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas ...	ORPHA:93111
Acrodysostosis 1 With Or Without Hormone Resistance	Hydrocephalus	OMIM:101800
Peters Plus Syndrome	Intestinal fistula, Hydrocephalus, Bicuspid pulmonary valve, Spina bifida occulta, Cleft palate, ...	ORPHA:709
Mend Syndrome	Aortic valve stenosis, High palate, Hydrocephalus, Dandy-Walker malformation	OMIM:300960
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va...	OMIM:303600
Loeys-Dietz Syndrome 2	Spontaneous pneumothorax, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Hydr...	OMIM:610168
Pancreatic Agenesis 2	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia, Steatorrhea	OMIM:615935
Baller-Gerold Syndrome	Anomalous splenoportal venous system, Hydrocephalus, Cleft palate, Abnormal heart morphology, Ant...	OMIM:218600
Craniorachischisis	Bifid sternum, Anal atresia	ORPHA:63260
Oeis Complex	Intestinal malrotation, Myelomeningocele, Hydrocephalus, Anteriorly placed anus, Rectovaginal fis...	OMIM:258040
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Hypermobile Ehlers-Danlos Syndrome	Apnea, Malabsorption, Venous insufficiency, Gastrointestinal dysmotility, Anorectal anomaly, Hip ...	ORPHA:285
Proboscis Lateralis	High palate, Patent ductus arteriosus, Ventricular septal defect	ORPHA:141099
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal...	OMIM:615287
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Cleft soft palate, Leukocytosis, Hydrocephalus, Hepatic steatosis	OMIM:619321
Hypoplasminogenemia	Hydrocephalus, Duodenal ulcer, Dandy-Walker malformation	ORPHA:722
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus	ORPHA:220295
Meningioma	Progressive pulmonary function impairment, Hydrocephalus, Abnormality on pulmonary function testi...	ORPHA:2495
Wiedemann-Rautenstrauch Syndrome	Recurrent respiratory infections, Pneumonia, Secundum atrial septal defect, Hydrocephalus, Hypopl...	OMIM:264090
Otopalatodigital Syndrome, Type Ii	Spina bifida, Hydrocephalus, Respiratory insufficiency, Cleft palate, Respiratory failure, Stillb...	OMIM:304120
Lenz-Majewski Hyperostotic Dwarfism	High, narrow palate, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Bifid uvula	ORPHA:2658
Holoprosencephaly 9	Hydrocephalus, Cleft palate, Bilateral cleft lip and palate, Holoprosencephaly, Short hard palate	OMIM:610829
Cockayne Syndrome A	Hepatomegaly, Splenomegaly, Thymic hormone decreased, Normal pressure hydrocephalus, Ventriculome...	OMIM:216400
Exstrophy-Epispadias Complex	Abnormality of the gastrointestinal tract, Anal stenosis, Spina bifida, Hydrocephalus, Abnormal h...	ORPHA:322
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus, Dysphagia	ORPHA:637
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:457284
Craniopharyngioma	Hydrocephalus	ORPHA:54595
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, High palate, Ventriculomegaly	OMIM:617011
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Epistaxis, Asthma, Mild fetal ventriculomegaly, Ankyloglossia, Paten...	OMIM:619841
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Focal Dermal Hypoplasia	Intestinal malrotation, Hiatus hernia, Hydrocephalus, Myelomeningocele, Cleft palate, Anteriorly ...	OMIM:305600
Coffin-Siris Syndrome 12	Celiac disease, Velopharyngeal insufficiency, Submucous cleft hard palate, Noncommunicating hydro...	OMIM:619325
Cockayne Syndrome B	Splenomegaly, Hepatomegaly, Normal pressure hydrocephalus	OMIM:133540
Neurofibromatosis Type 1	Neoplasm of the gastrointestinal tract, Leukemia, Hydrocephalus, Chronic myelogenous leukemia	ORPHA:636
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, High palate, Ventriculomegaly	ORPHA:457359
Wiedemann-Rautenstrauch Syndrome	Hydrocephalus, Congenital malformation of the left heart, Pulmonic stenosis, Submucous cleft soft...	ORPHA:3455
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus	ORPHA:573278
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Ventriculomegaly	OMIM:253280
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus, Anemia	ORPHA:3042
Norrie Disease	Venous insufficiency, Cryptorchidism	ORPHA:649
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Hydrocephalus	OMIM:175780
Dyslexia, Susceptibility To, 1		OMIM:127700

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 Dnaaf4

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 Dnaaf4.

No publications found that use IMPC mice or data for Dnaaf4.

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MGI Allele	Allele Type	Produced
Dnaaf4^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Dnaaf4^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Dnaaf4^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

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: Dnaaf4 MGI:1914935

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

Adult LacZ

X-ray

X-ray

Auditory Brain Stem Response

Electroretinography 2

Human diseases caused by Dnaaf4 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data