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Gene: Dnah5 MGI:107718

Gene Summary

Name:

dynein, axonemal, heavy chain 5

Synonyms:

Dnahc5, b2b1154Clo, Mdnah5, b2b1565Clo, b2b3491Clo, b2b1134Clo, b2b1537Clo

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
preweaning lethality, complete penetrance	Dnah5^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
increased blood urea nitrogen level	Dnah5^{tm1b(KOMP)Wtsi}	HET	Early adult	9.30×10^-05
increased circulating total protein level	Dnah5^{tm1b(KOMP)Wtsi}	HET	Early adult	3.52×10^-05
preweaning lethality, incomplete penetrance	Dnah5^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
increased circulating calcium level	Dnah5^{tm1b(KOMP)Wtsi}	HET	Early adult	2.76×10^-06

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
Epididymis	Section images	heterozygote	50% (1 of 2)
Esophagus	Section images	heterozygote	50% (1 of 2)
Ileum	Section images	heterozygote	50% (1 of 2)
Midbrain	Section images	heterozygote	100% (2 of 2)
Testis	Section images	heterozygote	50% (1 of 2)
Vas deferens	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)
Blood	N/A	heterozygote	0.0% (0 of 2)
Bone marrow	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	Not available
Cecum	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	Not available
Chest bone	N/A	heterozygote	Not available
Colon	N/A	heterozygote	0.0% (0 of 2)
Diaphragm	N/A	heterozygote	0.0% (0 of 2)
Duodenum	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	Not available
Gonadal fat pad	N/A	heterozygote	0.0% (0 of 2)
Harderian gland	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	Not available
Hindlimb	N/A	heterozygote	Not available
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Jejunum	N/A	heterozygote	Not available
Kidney	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
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	Not available
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Mesenteric adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Mesenteric lymph node	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)
Parathyroid gland	N/A	heterozygote	Not available
Parotid gland	N/A	heterozygote	0.0% (0 of 2)
Penis	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	Not available
Peyer's patch	N/A	heterozygote	Not available
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	Not available
Quadriceps	N/A	heterozygote	0.0% (0 of 2)
Sciatic nerve	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	Not available
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	50% (1 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach pyloric region	N/A	heterozygote	Not available
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	Not available
Sublingual gland	N/A	heterozygote	0.0% (0 of 2)
Submandibular gland	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Tongue	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Trigeminal V nerve	N/A	heterozygote	0.0% (0 of 2)
Urinary bladder	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vagina	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	Not available
Vesicular gland	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	Not available

No Embryo expression data was found for this gene.

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%
blood
bone marrow
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cecum	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
chest bone
colon
diaphragm	0.0%
duodenum	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
gonadal fat pad	0.0%
harderian gland
heart	0.0%
hindlimb	0.0%
hippocampus	0.0%
hypothalamus	0.0%
ileum	0.0%
jejunum
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%
mesenteric adipose tissue	0.0%
mesenteric lymph node
midbrain	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
parotid gland	0.0%
penis	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
quadriceps	0.0%
sciatic nerve	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
stomach pyloric region	0.0%
striatum	0.0%
sublingual gland	0.0%
submandibular gland	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
tongue	0.0%
trachea	0.0%
trigeminal v nerve	0.0%
urinary bladder
uterus	0.0%
vagina	0.0%
vas deferens	Unavailable
vascular system	0.0%
vesicular gland	Unavailable
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Dnah5 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 Dnah5 (2 diseases)
Human diseases predicted to be associated with Dnah5 (3181 diseases)

The table below shows human diseases associated to Dnah5 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Ciliary Dyskinesia, Primary, 3		Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas...	OMIM:608644
Primary Ciliary Dyskinesia		Atrial situs ambiguous, Asplenia, Neonatal respiratory distress, Abnormal atrial arrangement, Res...	ORPHA:244

The table below shows human diseases predicted to be associated to Dnah5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Abdominal...	OMIM:614779
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Ciliary Dyskinesia, Primary, 40	Left Isomerism, Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced r...	OMIM:618300
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl...	OMIM:616749
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Ciliary Dyskinesia, Primary, 7	Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric...	OMIM:611884
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left atrial isomer...	OMIM:605376
Plasma Fibronectin Deficiency	Reduced circulating fibronectin level	OMIM:614101
Ciliary Dyskinesia, Primary, 3	Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas...	OMIM:608644
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Heterotaxy, Asplenia	OMIM:601086
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia, Asplenia	OMIM:618948
Mirror Movements 3	Situs inversus totalis	OMIM:616059
Ciliary Dyskinesia, Primary, 24	Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Decreased n...	OMIM:615481
Ciliary Dyskinesia, Primary, 23	Neonatal respiratory distress, Productive cough, Situs inversus totalis, Recurrent pneumonia, Bro...	OMIM:615451
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Situs inversus totalis, Abdominal situs inversus, Dextrocardia	OMIM:619607
Ciliary Dyskinesia, Primary, 39	Dextrocardia, Decreased nasal nitric oxide, Bronchiectasis, Cough, Double outlet right ventricle,...	OMIM:618254
Ciliary Dyskinesia, Primary, 16	Situs inversus totalis, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Ciliary dysk...	OMIM:614017
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules	Abnormal respiratory motile cilium morphology	OMIM:215520
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease...	OMIM:615504
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Heterotaxy, Visceral, 12, Autosomal	Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa...	OMIM:619702
Nephronophthisis 14	Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs...	OMIM:616037
Ciliary Dyskinesia, Primary, 28	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease...	OMIM:615505
Congenital Pseudoarthrosis Of The Clavicle	Situs inversus totalis, Dextrocardia	ORPHA:66630
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Cardiomegaly, Asplenia, Aqueductal stenosis, Biliary atresia, Dextrotranspo...	OMIM:306955
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Asplenia, Neonatal respiratory distress, Abnormal atrial arrangement, Res...	ORPHA:244
Ciliary Dyskinesia, Primary, 36, X-Linked	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie...	OMIM:300991
Ciliary Dyskinesia, Primary, 17	Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Chronic r...	OMIM:614679
Ciliary Dyskinesia, Primary, 18	Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Immotile cil...	OMIM:614874
Ciliary Dyskinesia, Primary, 10	Situs inversus totalis, Ciliary dyskinesia, Chronic sinusitis, Recurrent sinusitis	OMIM:612518
Ciliary Dyskinesia, Primary, 37	Dextrocardia, Situs inversus totalis, Wheezing, Bronchiectasis, Right aortic arch, Chronic rhinit...	OMIM:617577
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Chronic bronchitis...	OMIM:615482
Ciliary Dyskinesia, Primary, 26	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease...	OMIM:615500
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis...	OMIM:615382
Ciliary Dyskinesia, Primary, 14	Recurrent respiratory infections, Neonatal respiratory distress, Absent inner dynein arms, Chroni...	OMIM:613807
Ciliary Dyskinesia, Primary, 32	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ...	OMIM:616481
Partial Atrioventricular Septal Defect	Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu...	ORPHA:1330
Ciliary Dyskinesia, Primary, 38	Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Bronchiect...	OMIM:618063
Adamantinoma	Hypercalcemia	ORPHA:55881
Total Anomalous Pulmonary Venous Return 1	Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia	OMIM:106700
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
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
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Heterotaxy, Visceral, 5, Autosomal	Bilateral trilobed lung, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aspleni...	OMIM:270100
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Bronchiectasis, Decreased nasal...	OMIM:612444
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Asplenia, Patent ductus arteri...	OMIM:619657
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Scimitar Syndrome	Respiratory distress, Abnormal lung morphology, Pulmonary artery hypoplasia, Hypoplasia of the di...	ORPHA:185
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Sinusitis, Dextrocardia, Situs inversus t...	OMIM:606763
Tricuspid Atresia	Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarctation of ao...	ORPHA:1209
Ciliary Dyskinesia, Primary, 19	Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Bronchiectasis, Immoti...	OMIM:614935
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi...	OMIM:608647
Ciliary Dyskinesia, Primary, 35	Neonatal respiratory distress, Nasal polyposis, Productive cough, Situs inversus totalis, Recurre...	OMIM:617092
Ciliary Dyskinesia, Primary, 12	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ...	OMIM:612650
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Abnormal coronary artery morphology, Ventr...	ORPHA:860
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Bronchiectasis, Decrea...	OMIM:620197
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:620032
Meacham Syndrome	Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Atrial septal defect, Neonatal death...	OMIM:608978
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Situs inversus ...	OMIM:613808
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Hypoglossia With Situs Inversus	Situs inversus totalis, Asplenia, Polysplenia	OMIM:612776
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Glycogen Storage Disease 0, Muscle	Decreased muscle glycogen content, Left atrial enlargement, Cardiomyopathy, Stroke, Left ventricu...	OMIM:611556
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Bardet-Biedl Syndrome 8	Situs inversus totalis	OMIM:615985
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Holzgreve Syndrome	Renal agenesis, Hypoplastic left heart, Renal hypoplasia	OMIM:236110
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali...	OMIM:615415
Genitopalatocardiac Syndrome	Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the...	OMIM:231060
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Pulmonary Atresia With Intact Ventricular Septum	Pulmonary artery atresia, Hypoplastic right heart	OMIM:265150
Spermatogenic Failure 38	Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Coiled sperm flagell...	OMIM:618433
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia	OMIM:618313
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress, Cerebellar hypoplasia, Primary microcephaly, Agenesis of corpus callosum, V...	ORPHA:171703
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Ciliary Dyskinesia, Primary, 6	Absent/shortened outer dynein arms, Abnormal respiratory motile cilium morphology	OMIM:610852
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Nasal polyposis, Pneumonia, Situs inversus totalis, Atelectasis, Abs...	OMIM:244400
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis,...	OMIM:615294
Dextrocardia	Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abnormal lung lobation, Abnormal...	ORPHA:1666
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology	ORPHA:1208
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Isomerism, Transposit...	OMIM:314390
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta...	ORPHA:70589
Meacham Syndrome	Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter...	ORPHA:3097
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Dandy-Walker malformation, Hepa...	OMIM:208540
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Ciliary Dyskinesia, Primary, 46	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni...	OMIM:619436
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a...	OMIM:620203
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Marfanoid Habitus With Situs Inversus	Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten...	OMIM:609008
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Dextrocardia, Secundum at...	ORPHA:2257
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Asplenia, Abdominal situs inversus, Pulmonic stenosis, Atrioventricula...	OMIM:619123
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Agang...	ORPHA:210122
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Partial atrioventricular canal defect, Situs inversus totalis, Decreased nasal nitric oxide, Prim...	OMIM:619608
Developmental And Epileptic Encephalopathy 102	Atrial septal defect, Hepatomegaly, Situs inversus totalis	OMIM:619881
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Ciliary Dyskinesia, Primary, 29	Decreased nasal nitric oxide, Ciliary dyskinesia, Bronchiectasis	OMIM:615872
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega...	OMIM:249270
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen	OMIM:620085
Agnathia-Otocephaly Complex	Respiratory distress, Wide nose, Tracheomalacia, Micrognathia, Secundum atrial septal defect, Sit...	OMIM:202650
Hypermethioninemia Due To Adenosine Kinase Deficiency	Secundum atrial septal defect, Elevated circulating alanine aminotransferase concentration, Chole...	OMIM:614300
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Dextrocardia, Camptodactyly of finger, Micrognathia, Patent ductus art...	ORPHA:2863
Cardiac-Urogenital Syndrome	Atrial septal defect, Scimitar anomaly, Mesocardia, Accessory spleen, Coronary sinus enlargement,...	OMIM:618280
Hydrocephaly-Low Insertion Umbilicus Syndrome	Wide nose, Long nose, Patent ductus arteriosus, Anomalous pulmonary venous return, Tetralogy of F...	ORPHA:2184
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Congenital diaphragmatic hernia, Short thumb, Patent ductus arteriosus, Ab...	ORPHA:1120
Cardiomyopathy, Dilated, 1R	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:613424
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
14Q24.1Q24.3 Microdeletion Syndrome	Truncus arteriosus, Prominent nasal bridge, Ventricular septal defect, Ectopic kidney, Intestinal...	ORPHA:401935
Seckel Syndrome 9	Recurrent respiratory infections, Ventricular septal defect, Congenital diaphragmatic hernia, Mic...	OMIM:616777
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement	OMIM:115210
Diabetic Embryopathy	Ventricular septal defect, Cryptorchidism, Abnormality of the pancreas, Hydrocephalus, Tetralogy ...	ORPHA:1926
22Q11.2 Duplication Syndrome	Ventricular septal defect, Cleft palate, Hypoplastic left heart, Transposition of the great arter...	ORPHA:1727
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis	OMIM:217085
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Pierre Robin Syndrome	Neonatal respiratory distress, Micrognathia, Cor pulmonale, Upper airway obstruction, Cleft palat...	OMIM:261800
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Acute respiratory distress syndrome, Ventriculomegal...	OMIM:617397
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Ventricular septal defect, Micromelia, Mi...	ORPHA:1908
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical...	OMIM:615268
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T...	OMIM:611926
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Stroke, Total anomalous pulmonary venous r...	ORPHA:494424
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de...	OMIM:265380
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Congenital Tracheomalacia	Apnea, Cardiomegaly, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Atrial septal defect,...	ORPHA:95430
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough	OMIM:615434
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Leukodystrophy, Hypomyelinating, 14	Cerebellar atrophy, Microcephaly, Cerebral atrophy, Respiratory insufficiency, Growth delay, Hear...	OMIM:617899
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to...	OMIM:613759
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Ciliary Dyskinesia, Primary, 43	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Abdom...	OMIM:618699
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Camptodactyly of finger, Intestinal malrotation, Protruding tongue, Pa...	OMIM:300963
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus, Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebellar hypoplasia, Ce...	ORPHA:2703
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota...	ORPHA:99125
Fetal Trimethadione Syndrome	Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect...	ORPHA:1913
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomegaly, Pericardial effus...	ORPHA:555874
Congenital Heart Defects, Multiple Types, 9	Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r...	OMIM:620294
Classic Multiminicore Myopathy	Mandibular prognathia, Microretrognathia, Absent muscle fiber merosin, Multiple joint contracture...	ORPHA:324604
Ciliary Dyskinesia, Primary, 50	Coiled sperm flagella, Short sperm flagella, Absent inner dynein arms	OMIM:620356
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra...	OMIM:619910
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Cleft p...	OMIM:600987
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Hadziselimovic Syndrome	Ventricular hypertrophy, Anteverted nares, Prominent nasal bridge, Ventricular septal defect, Ren...	OMIM:612946
Ciliary Dyskinesia, Primary, 11	Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chro...	OMIM:612649
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy...	OMIM:604213
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs invers...	OMIM:613095
Spinocerebellar Ataxia 41	Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy	OMIM:616410
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ...	OMIM:234810
Pulmonary Hypertension, Primary, 1	Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial medial hypertrophy, Pulmonar...	OMIM:178600
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Respiratory insuffi...	ORPHA:1909
Double Outlet Right Ventricle	Ventricular septal defect, Intestinal malrotation, Tachypnea, Submucous cleft hard palate, Double...	ORPHA:3426
Spinocerebellar Ataxia 31	Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Limb ataxia, Gait ataxia	OMIM:117210
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven...	OMIM:253700
Ciliary Dyskinesia, Primary, 34	Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit...	OMIM:617091
Microcephaly, Seizures, And Developmental Delay	Cerebellar atrophy, Ataxia, Microcephaly, Progressive microcephaly, Ventriculomegaly	OMIM:613402
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Ataxia, Microcephaly, Respiratory insufficiency due to muscle weakness, Dyspl...	OMIM:618276
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Aplasia/Hypoplasia involving the nose, Hypoplasia of penis, Situs inversus ...	ORPHA:990
Ciliary Dyskinesia With Defective Radial Spokes	Sinusitis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhinitis, Ciliary dysk...	OMIM:242670
Ciliary Dyskinesia, Primary, 45	Immotile cilia, Bronchiectasis, Chronic rhinitis	OMIM:618801
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t...	OMIM:618845
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Cerebellar atrophy, Broad-based gait, Short stature, Gait ataxia, Progressive microcephaly, Atrop...	OMIM:617862
Cat Eye Syndrome	Micrognathia, Vesicoureteral reflux, Atrial septal defect, Patent ductus arteriosus, Total anomal...	OMIM:115470
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Mosaic Trisomy 9	Ventriculomegaly, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Spina...	ORPHA:99776
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Situs inversus tota...	OMIM:267010
Holt-Oram Syndrome	Ventricular septal defect, Absent thumb, Patent ductus arteriosus, Anomalous pulmonary venous ret...	ORPHA:392
Muscle Filaminopathy	Scapular winging, Fatty replacement of skeletal muscle, Respiratory insufficiency, Abnormality of...	ORPHA:171445
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Ventricular septal defect, Partial anomalous pulmonary venous return, Right aor...	OMIM:617478
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Camptodactyly of finger, Dextrocardia, Missing ribs, Intestinal malrotation, Respir...	ORPHA:1759
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Respiratory i...	OMIM:619909
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho...	ORPHA:99050
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Microlissencephaly	Cerebellar atrophy, Pneumonia, Microcephaly, Cerebral cortical atrophy, Ventriculomegaly	ORPHA:1083
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Micrognathia, Bifid nasal tip...	OMIM:619343
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, High palate, Neutropenia, He...	OMIM:612541
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A	Cerebellar atrophy, Ataxia, Cerebral atrophy, Macrocephaly, Ventriculomegaly	OMIM:613925
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral artery hypoplasia, Neurogenic bladder, Unilateral vertebral artery hypoplasia, Dextroca...	OMIM:613686
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Kallmann Syndrome-Heart Disease Syndrome	Partial anosmia, Total anosmia, Anomalous origin of left coronary artery from the pulmonary arter...	ORPHA:2326
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Secundum atrial septal defect, Recurrent pneumonia, Recurrent upper ...	OMIM:614868
Cardiomyopathy, Familial Hypertrophic, 25	Left ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:607487
Colonic Atresia	Abnormal mesentery morphology, Abdominal situs inversus	ORPHA:1198
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect	OMIM:618901
Cardioacrofacial Dysplasia 1	Complete atrioventricular canal defect, Atrioventricular canal defect	OMIM:619142
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Cardioacrofacial Dysplasia 2	Common atrium, Atrioventricular canal defect, Left superior vena cava draining to coronary sinus	OMIM:619143
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Ventricular septal defect, Respiratory insufficiency, Respirato...	OMIM:253300
Dohle Bodies And Leukemia	Secundum atrial septal defect, Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia	OMIM:223350
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Neonatal respiratory distress, Secundum atrial septal defect, Patent ductus arteriosus, Cardiomyo...	OMIM:616866
Atrial Fibrillation, Familial, 6	Left ventricular hypertrophy, Left atrial enlargement	OMIM:612201
Bardet-Biedl Syndrome 16	Respiratory distress, Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal ...	OMIM:615993
Lessel-Kubisch Syndrome	Renal insufficiency, Renal hypoplasia	OMIM:618681
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Upper airway obst...	ORPHA:141152
Tetraamelia Syndrome 2	Microretrognathia, Ventricular septal defect, Hypoplastic pulmonary veins, Micrognathia, Cleft pa...	OMIM:618021
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Ciliary dyskinesia	OMIM:616726
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Cleft palate, Hypoplasti...	OMIM:220210
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Megalencephaly, Autosomal Dominant	Hydrocephalus, Macrocephaly	OMIM:155350
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Atrial Septal Defect 9	Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve	OMIM:614475
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio...	OMIM:613426
Microcephaly-Capillary Malformation Syndrome	Wide nose, Ventricular septal defect, Hypoplasia of the maxilla, Vesicoureteral reflux, Cleft pal...	OMIM:614261
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Aortopu...	OMIM:620025
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:612158
Diamond-Blackfan Anemia 7	Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteri...	OMIM:612562
Distal 7Q11.23 Microdeletion Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:254351
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy...	OMIM:601493
8p23.1 deletion syndrome	Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology	DECIPHER:39
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Cerebellar atrophy, Waddling gait, Short stature, Microcephaly, Cerebral atrophy, Hearing impairment	OMIM:619090
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Cardiomyopathy, Familial Hypertrophic, 21	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse	OMIM:614676
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly, Macrocephaly	OMIM:611808
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Double outlet left ventricle, Ventricular septal defect, Intestinal malrotati...	OMIM:600001
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Short stature, Ataxia, Sensorineural hearing impairment, Dysmetria, Gait atax...	OMIM:616291
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Whim Syndrome 2	Tetralogy of Fallot	OMIM:619407
Venous Malformations, Multiple Cutaneous And Mucosal	Venous malformation	OMIM:600195
Paget Disease Of Bone 6	Left ventricular hypertrophy, Nephrocalcinosis, Coronary artery atherosclerosis	OMIM:616833
Chops Syndrome	Anteverted nares, Ventricular septal defect, Tracheomalacia, Splenomegaly, Patent ductus arterios...	OMIM:616368
Bardet-Biedl Syndrome 17	Short fourth metatarsal, Dextrocardia, Polyuria, Situs inversus totalis, Anosmia, Stage 5 chronic...	OMIM:615994
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Cerebellar atrophy, Jaw swelling, Ventriculomegaly, Gait ataxia	OMIM:619323
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Double outlet left ventricle, Ventricular septal defect, Intestinal malrota...	ORPHA:2255
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Transposition of the gr...	ORPHA:1461
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy	Cerebellar atrophy, Sensorineural hearing impairment, Brain atrophy, Microcephaly	OMIM:618741
Meier-Gorlin Syndrome 8	Unilateral renal hypoplasia, Nephroptosis	OMIM:617564
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency	Truncal ataxia, Limb ataxia, Difficulty walking, Brain atrophy, Cerebellar vermis atrophy	ORPHA:363432
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis	OMIM:178650
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial se...	OMIM:179613
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Pulmonary arterial hypertension, Pulmonary venous occlusion, Interlobular septal thickening	OMIM:265450
Spinocerebellar Ataxia Type 31	Cerebellar atrophy, Gait ataxia, Hearing impairment	ORPHA:217012
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Macroglossia, Cryptorchidism, Patent foramen ovale, Transposition of the great arteries	OMIM:616789
Lissencephaly 4	Short stature, Growth delay, Colpocephaly, Cerebellar hypoplasia, Primary microcephaly, Agenesis ...	OMIM:614019
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Centrally nucleated skeletal muscle fibers, Cough, Limb-girdle muscle weakn...	ORPHA:86812
Atrial Septal Defect, Sinus Venosus Type	Dyspnea, Anomalous pulmonary venous return, Airway obstruction, Right ventricular dilatation, Str...	ORPHA:99105
Cerebral Palsy, Ataxic, Autosomal Recessive	Cerebellar atrophy, Broad-based gait, Dysdiadochokinesis	OMIM:605388
Familial Nasal Acilia	Abnormal respiratory motile cilium morphology	ORPHA:922
Keutel Syndrome	Sinusitis, Ventricular septal defect, Depressed nasal bridge, Cartilaginous ossification of nose,...	OMIM:245150
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ataxia, Microcephaly, Hydrocephalus, Macrocephaly, Ventriculomegaly	OMIM:618709
Spinocerebellar Ataxia, Autosomal Recessive 24	Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia	OMIM:617133
Tetralogy Of Fallot	Tetralogy of Fallot	OMIM:187500
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal defect, Inlet ventricula...	OMIM:619534
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Masa Syndrome	Short stature, Microcephaly, Hydrocephalus, Shuffling gait, Macrocephaly, Agenesis of corpus call...	OMIM:303350
Poland Syndrome	Unilateral absence of pectoralis major muscle, Unilateral oligodactyly, Unilateral hypoplasia of ...	OMIM:173800
White Forelock With Malformations	Atrial septal defect, Prominent veins on trunk	OMIM:277740
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contracture, Calf muscle hypert...	ORPHA:206546
Bardet-Biedl Syndrome 19	Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Renal hypo...	OMIM:615996
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Abnormal respiratory motile cilium morphology	OMIM:225050
Autosomal Recessive Spondylocostal Dysostosis	Depressed nasal bridge, Anteverted nares, Congenital diaphragmatic hernia, Camptodactyly of finge...	ORPHA:2311
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Cerebellar atrophy, Ataxia, Microcephaly, Chiari type I malformation, Spastic gait	OMIM:619742
Pineocytoma	Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking	ORPHA:251912
Thomas Syndrome	Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia	ORPHA:3316
Pagod Syndrome	Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Situs inversus totalis, Pulmonary ...	ORPHA:991
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Posteriorly rotated ears, Microcephaly, Micrognathia, Dyspnea, Respiratory ...	ORPHA:1832
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph...	ORPHA:1354
Spinocerebellar Ataxia 45	Cerebellar atrophy, Limb ataxia, Gait ataxia	OMIM:617769
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Dilation of Virchow-Robin spaces, Secundum atrial septal defect, Cryptorchidism, Hydrocephalus, L...	OMIM:619951
Aortic Arch Interruption	Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Aortopulmonary wind...	ORPHA:2299
Autosomal Spastic Paraplegia Type 30	Ataxia, Unsteady gait, Scissor gait, Diffuse cerebellar atrophy, Spastic gait	ORPHA:101010
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly, Macrocephaly	OMIM:615938
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Recurrent respiratory infections, Mesenteric cyst, Ventricular septal defect, Intestinal malrotat...	OMIM:618316
Spinocerebellar Ataxia Type 5	Cerebellar atrophy, Gait disturbance	ORPHA:98766
14Q11.2 Microdeletion Syndrome	Ventricular septal defect, Depressed nasal bridge, Micrognathia, Patent ductus arteriosus, High p...	ORPHA:261120
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Cerebellar atrophy, Inability to walk, Ataxia	OMIM:619333
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Morgagni diaphragmatic hernia, Vascular dilatation, Atelecta...	OMIM:613177
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w...	ORPHA:353
Desmosterolosis	Depressed nasal bridge, Intestinal malrotation, Micromelia, Abnormality of the nose, Micrognathia...	ORPHA:35107
Heart And Brain Malformation Syndrome	High, narrow palate, Dandy-Walker malformation, Ventricular septal defect, Interrupted aortic arch	OMIM:616920
Spastic Paraplegia 32, Autosomal Recessive	Cerebellar atrophy, Difficulty walking, Spastic gait, Cerebral atrophy	OMIM:611252
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Spinocerebellar Ataxia Type 30	Limb ataxia, Cerebellar vermis atrophy, Gait ataxia	ORPHA:211017
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle...	OMIM:614954
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Ataxia, Microcephaly, Limb ataxia, Gait ataxia, Growth delay	OMIM:614322
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Wide nose, Left atrial enlargement, Cardiomegaly, Prominent nose, Retrog...	OMIM:300280
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Death in infancy, Elevated circulating aspartate aminotransferase concentration, Pr...	OMIM:608779
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Cerebellar atrophy, Cerebral atrophy, Ventriculomegaly, Microcephaly	OMIM:618730
Developmental And Epileptic Encephalopathy 76	Cerebellar atrophy, Inability to walk, Cerebral atrophy, Microcephaly	OMIM:618468
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia	ORPHA:2668
Developmental And Epileptic Encephalopathy 66	Ventricular septal defect, Dextrocardia, Cryptorchidism, Neutropenia, Atrial septal defect, Anemia	OMIM:618067
Paternal Uniparental Disomy Of Chromosome 5	Secundum atrial septal defect	ORPHA:96190
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a...	OMIM:264480
Retinitis Pigmentosa 6	Immotile cilia	OMIM:312612
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Death in infancy, Ventricular septal defect, Elevated circulating aspartate aminotr...	OMIM:614876
Atrial Septal Defect 5	Secundum atrial septal defect	OMIM:612794
Atrial Septal Defect 3	Secundum atrial septal defect	OMIM:614089
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Increased urine succinate level, Apnea, Left ventricular h...	OMIM:619048
Usher Syndrome, Type 1M	Left ventricular hypertrophy	OMIM:618632
Velocardiofacial Syndrome	Ventricular septal defect, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard pal...	OMIM:192430
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia	ORPHA:29073
Monosomy 18Q	Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen...	ORPHA:1600
Cardiomyopathy, Familial Hypertrophic, 20	Left ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:613876
8P23.1 Microdeletion Syndrome	Cryptorchidism, Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy,...	ORPHA:251071
Nescav Syndrome	Cerebellar atrophy, Ataxia, Microcephaly, Inability to walk, Cerebral atrophy, Cerebellar vermis ...	OMIM:614255
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis...	OMIM:610205
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia, Respiratory insufficiency	ORPHA:2111
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Flexion contracture, Pulmonary hypoplasia, Abnormal renal corticomedullary ...	OMIM:616733
Mucus Inspissation Of Respiratory Tract	Chronic pulmonary obstruction, Chronic sinusitis, Bronchiectasis	OMIM:253240
1Q21.1 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Tetralogy of Fallot	ORPHA:250994
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Fixed Subaortic Stenosis	Orthopnea, Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Dyspnea, Patent ductus...	ORPHA:3092
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation, Micrognathia	ORPHA:1538
Myofibrillar Myopathy 10	Mandibular prognathia, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contrac...	OMIM:619040
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Chronic sinusitis, Otitis media, High-frequency hearing impairment	OMIM:300455
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Ventricular Septal Defect 3	Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Inability to walk, Ventriculomegaly, Microcephaly	OMIM:617977
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Cerebellar atrophy, Truncal ataxia, Cerebral atrophy, Microcephaly	OMIM:611726
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Short stature, Ataxia, Sens...	OMIM:610185
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Ataxia, Macrocephaly	ORPHA:99966
Fatty Acyl-Coa Reductase 1 Deficiency	Cerebellar atrophy, Short stature, Inability to walk, Growth delay, Progressive microcephaly, Mac...	ORPHA:438178
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Cerebellar atrophy, Broad-based gait, Short stature, Dysmetria, Progressive cerebellar ataxia, Pr...	ORPHA:284332
Complete Atrioventricular Septal Defect	Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal defect, Wheezing...	ORPHA:1329
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly, Macrocephaly	OMIM:615937
Microphthalmia, Syndromic 9	Congenital diaphragmatic hernia, Micrognathia, Agenesis of pulmonary vessels, Atrial septal defec...	OMIM:601186
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val...	ORPHA:75566
Weiss-Kruszka Syndrome	Ventricular septal defect, Bicuspid aortic valve, Dextrotransposition of the great arteries, Colp...	OMIM:618619
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Secundum atrial septal defect, Recurrent lower respiratory tract infections, High palate	OMIM:620194
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Otitis media	OMIM:312863
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Cryptorchidism, Patent ductus arteriosus, High palate, Pulmonic stenosis, Atria...	ORPHA:3304
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Transient ischemic attack, Pneumonia, Increased pulmonary vascular resis...	ORPHA:99104
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta	ORPHA:228190
Monosomy 13Q34	Common atrium, Hepatic steatosis, Epistaxis, Pulmonic stenosis	ORPHA:96168
Aicardi-Goutieres Syndrome 4	Cerebellar atrophy, Hydrocephalus, Respiratory insufficiency, CSF lymphocytic pleiocytosis, Cereb...	OMIM:610333
Absence Of The Pulmonary Artery	Orthopnea, Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Patent ductus ...	ORPHA:980
Cardiomyopathy, Dilated, 1Kk	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Ventricular se...	OMIM:615248
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle...	ORPHA:169186
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Central apnea, Cerebellar atrophy, Short stature, Microcephaly, Cerebral atrophy, Dysmetria, Gait...	ORPHA:320385
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Hypoplastic left heart, Renal hypoplasia, Unilateral renal agenesis	OMIM:617661
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Respiratory insufficien...	ORPHA:1166
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Secundum atrial septal defect, Hypertrophic cardiomyopathy, Bifid uvula, Ventriculomegaly	OMIM:619121
Spinocerebellar Ataxia 37	Cerebellar atrophy, Unsteady gait, Ataxia	OMIM:615945
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia	OMIM:207731
Intellectual Developmental Disorder, Autosomal Recessive 72	Secundum atrial septal defect	OMIM:618665
Carpenter Syndrome 1	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Spina bifida occulta, High p...	OMIM:201000
Mitochondrial Complex I Deficiency, Nuclear Type 19	Cerebellar atrophy, Inability to walk, Respiratory insufficiency, Athetosis, Secondary microcepha...	OMIM:618241
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect	OMIM:617616
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Difficulty walking, Gait ataxia	ORPHA:423296
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept...	OMIM:601927
Atrial Fibrillation, Familial, 10	Right ventricular dilatation, Left ventricular hypertrophy, Stroke, Left atrial enlargement	OMIM:614022
Congenital Gerbode Defect	Ventricular septal defect, Crackles, Dyspnea, Right atrial enlargement, Pulmonary arterial hypert...	ORPHA:99095
Thoracoabdominal Syndrome	Hydrocephalus, Patent ductus arteriosus, Anencephaly, Cleft palate, Pulmonary hypoplasia, Transpo...	OMIM:313850
Combined Oxidative Phosphorylation Deficiency 30	Left ventricular hypertrophy, Gastroesophageal reflux, Respiratory distress	OMIM:616974
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	High palate, Lateral ventricle dilatation, Ventricular septal defect, Dextrotransposition of the ...	OMIM:619995
Cardiomyopathy, Dilated, 1U	Left ventricular hypertrophy, Dilated cardiomyopathy	OMIM:613694
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, High palate, Transposition of the great arteries, Pulmo...	OMIM:617877
Spinocerebellar Ataxia Type 41	Cerebellar vermis atrophy, Gait ataxia	ORPHA:458798
Spinocerebellar Ataxia Type 37	Sensorineural hearing impairment, Dysdiadochokinesis, Gait disturbance, Falls, Truncal ataxia, Di...	ORPHA:363710
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Thromboc...	ORPHA:163979
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:613874
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Microcephaly 30, Primary, Autosomal Recessive	Secundum atrial septal defect, Cleft soft palate, Ventriculomegaly	OMIM:620183
Sweeney-Cox Syndrome	Bilateral cryptorchidism, Asplenia, Patent ductus arteriosus, Velopharyngeal insufficiency, High ...	OMIM:617746
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Respiratory insufficie...	OMIM:253800
Auriculocondylar Syndrome 2A	Respiratory distress, Overfolding of the superior helices, Apnea, Posteriorly rotated ears, Micro...	OMIM:614669
Ceroid Lipofuscinosis, Neuronal, 10	Cerebellar atrophy, Apnea, Increased neuronal autofluorescent lipopigment, Ataxia, Microcephaly, ...	OMIM:610127
Febrile Infection-Related Epilepsy Syndrome	Sinusitis, Cough	ORPHA:163703
Feingold Syndrome 1	Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph...	OMIM:164280
Renpenning Syndrome	Mandibular prognathia, Skeletal muscle atrophy, Hypospadias, Prominent nose, High, narrow palate,...	ORPHA:3242
Ceroid Lipofuscinosis, Neuronal, 8	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Los...	OMIM:600143
Dandy-Walker Syndrome	Dilated fourth ventricle, Agenesis of cerebellar vermis, Hydrocephalus, Partial absence of cerebe...	OMIM:220200
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Endocardial fibrosis, Left ventricular hypertrophy, Restrictive cardiomy...	OMIM:608751
Autosomal Recessive Spastic Paraplegia Type 32	Abnormal pons morphology, Difficulty walking, Cerebellar cortical atrophy	ORPHA:171622
Burn-Mckeown Syndrome	Prominent nasal bridge, Wide nasal bridge, Abnormal cardiac septum morphology, Short nose, Bilate...	ORPHA:1200
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Pulmonic stenosis	ORPHA:251076
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Intellectual Developmental Disorder, Autosomal Recessive 65	Secundum atrial septal defect, Atrial septal defect, Cryptorchidism	OMIM:618109
Desmosterolosis	Hypoplastic nasal bridge, Anteverted nares, Rhizomelia, Micrognathia, Patent ductus arteriosus, C...	OMIM:602398
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Transaldolase Deficiency	Thrombocytopenia, Abnormal respiratory system physiology, Hepatosplenomegaly, Biventricular hyper...	ORPHA:101028
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Dyspnea, Renal cyst	OMIM:174050
Microphthalmia, Syndromic 12	Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Broad nasal t...	OMIM:615524
Diamond-Blackfan Anemia 16	Atrial septal defect, Anemia, Pulmonic stenosis	OMIM:617408
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Fragile X Syndrome	Mandibular prognathia, Sinusitis, Protruding ear, Otitis media, Macrocephaly, Chronic otitis medi...	ORPHA:908
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Secundum atrial septal defect, High palate	OMIM:620242
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Cerebellar atrophy, Inability to walk, Agenesis of corpus callosum, Respiratory insufficiency	OMIM:618324
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Gait ataxia, Neuronal loss in central nervo...	OMIM:615362
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Hydroceph...	ORPHA:2306
Folinic Acid-Responsive Seizures	Respiratory distress, Cerebellar atrophy, Broad-based gait, Apnea, Ataxia, Sensorineural hearing ...	ORPHA:79097
Joubert Syndrome	Apnea, Anteverted nares, Prominent nasal bridge, Episodic tachypnea, Situs inversus totalis, Agan...	ORPHA:475
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta	OMIM:604381
Spinocerebellar Ataxia 43	Ataxia, Limb ataxia, Cerebellar vermis atrophy, Gait ataxia	OMIM:617018
Vacterl Association With Hydrocephalus	Respiratory failure, Renal hypoplasia, Respiratory insufficiency, Abnormal heart morphology	OMIM:276950
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Hypertrophic card...	ORPHA:444013
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis, Chronic otitis media, Agene...	OMIM:619466
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Cleft pa...	OMIM:620210
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Recurrent respiratory infections, Hepatic steatosis, Abnormal mitochondrial...	ORPHA:17
Mitochondrial Complex I Deficiency, Nuclear Type 6	Skeletal muscle atrophy, Apnea, Respiratory insufficiency, Left ventricular hypertrophy, Hypertro...	OMIM:618228
Renal Tubular Dysgenesis	Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis	ORPHA:3033
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Cerebellar atrophy, Abnormal lateral ventricle morphology, Gait ataxia, Growth delay, Cerebellar ...	ORPHA:488635
Fried Syndrome	Abnormal cerebellum morphology, Hydrocephalus, Gait disturbance, Macrotia, Hearing impairment	ORPHA:85335
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Diffuse alveolar hemorrhage, Asplenia, Cervical lymphadenopathy, ...	OMIM:614034
Meckel Syndrome	Accessory spleen, Encephalocele, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Situs inv...	ORPHA:564
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe...	ORPHA:477817
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers, Stroke-like episode	OMIM:540000
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong...	OMIM:614980
Synaptic Congenital Myasthenic Syndromes	Mandibular prognathia, Skeletal muscle atrophy, Scapular winging, Respiratory distress, Hypoventi...	ORPHA:98915
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Skin rash, Gait disturbance, Microcephaly	ORPHA:26
Marden-Walker Syndrome	Decreased muscle mass, Anteverted nares, Dextrocardia, Hypospadias, Micrognathia, High, narrow pa...	OMIM:248700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Facial palsy, Flexion contracture, Respiratory insufficiency, Skeletal muscle hypertrophy, Macrog...	OMIM:613156
Spinocerebellar Ataxia, Autosomal Recessive 13	Dilated fourth ventricle, Cerebellar atrophy, Short stature, Ataxia, Inability to walk, Dysmetria...	OMIM:614831
Immunodeficiency 51	Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre...	OMIM:613953
Down Syndrome	Ventricular septal defect, Aganglionic megacolon, Short middle phalanx of the 5th finger, Protrud...	OMIM:190685
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Bifid uvula, Abnormality of the urinary system, Hydronephrosis	ORPHA:2669
Spinocerebellar Ataxia 30	Cerebellar atrophy, Ataxia	OMIM:613371
Activated Pi3K-Delta Syndrome	Pneumonia, Microcephaly, Bronchiectasis, Arthritis, Recurrent otitis media, Recurrent upper and l...	ORPHA:397596
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Patent ductus arteriosus, Hydrocephalus, Atrial septal defect, Cho...	OMIM:614886
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Secundum atrial septal defect, Recurrent respiratory infections, Hepatic failure	OMIM:619758
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Ventricular septal defect, Micrognathia, Nephropathy, Nephrocalcinosis, Renal tubular acidosis, A...	OMIM:208085
Cardiomyopathy, Familial Hypertrophic, 16	Orthopnea, Dyspnea, Asymmetric septal hypertrophy, Left ventricular hypertrophy, Hypertrophic car...	OMIM:613838
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Secundum atrial septal defect, Enlarged sylvian cistern, Bifid uvula, Pulmonic stenosis	OMIM:615802
Aica-Ribosuria Due To Atic Deficiency	Secundum atrial septal defect	OMIM:608688
1Q21.1 Microdeletion Syndrome	Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Abnormal cardiac septum morphology, High...	ORPHA:250989
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Short stature, Microcephaly, Hypoplasia of the pons, Micrognathia, Partial ag...	OMIM:616171
Mesoaxial Hexadactyly And Cardiac Malformation	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:249670
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short nose, Anteverted nares, Cleft palate, Micrognathia	ORPHA:2015
17Q21.31 Microduplication Syndrome	Anteverted nares, Micrognathia, High palate, Malar flattening, Short nose	ORPHA:217340
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom...	ORPHA:199241
Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Cleft pa...	OMIM:300712
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Short stature, Absent pubertal growth spurt, Microcephaly, Gait ataxia, Neuro...	ORPHA:438134
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Developmental And Epileptic Encephalopathy 109	Left ventricular hypertrophy, Dyspnea	OMIM:620145
Adams-Oliver Syndrome 4	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:615297
Developmental And Epileptic Encephalopathy 36	Microretrognathia, Microcephaly, Hydrocephalus, Cerebral atrophy, Low-set ears, Macrocephaly	OMIM:300884
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Dextrocardia, Underdeveloped nasal a...	ORPHA:2315
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Stroke-like epis...	OMIM:300845
Congenital Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Neonatal respiratory distress, Apnea, Microcephaly, Aplasia/Hypoplasia of the...	ORPHA:168486
Meckel Syndrome, Type 1	Occipital encephalocele, Asplenia, Lobulated tongue, Dandy-Walker malformation, Accessory spleen,...	OMIM:249000
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Pulmonary Hypertension, Primary, 5	Exertional dyspnea, Pulmonary arterial hypertension, Right ventricular hypertrophy	OMIM:265400
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Apnea, Jejunal atresia, High, narrow palate, Narrow palate, Type 1 muscle fiber predominance, Inc...	OMIM:612949
Keutel Syndrome	Recurrent respiratory infections, Wide nose, Ventricular septal defect, Depressed nasal bridge, U...	ORPHA:85202
Thakker-Donnai Syndrome	Communicating hydrocephalus, Ventricular septal defect, Tracheoesophageal fistula, Rectovaginal f...	ORPHA:1780
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Hydroureter, Ventricular septal defect, Dextrocardia, Abnormal heart v...	ORPHA:289
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Short stature, Pneumonia, Skin rash, Arthritis,...	ORPHA:229717
Congenital Myopathy 11	Elevated hepatic transaminase, Neonatal respiratory distress, Patent ductus arteriosus, Apneic ep...	OMIM:619967
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Gómez-López-Hernández Syndrome	Cerebellar vermis hypoplasia, Short stature, Ataxia, Abnormal cerebellum morphology, Hydrocephalu...	ORPHA:1532
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re...	OMIM:619773
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:1937
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Cerebellar atrophy, Broad-based gait, Short stature, Dysmetria, Gait ataxia, Dysdiadochokinesis, ...	OMIM:224050
Noonan Syndrome 8	Ventricular septal defect, Patent ductus arteriosus, Pleural effusion, Pulmonic stenosis, Atrial ...	OMIM:615355
Congenital Tracheal Stenosis	Respiratory distress, Ascending aorta hypoplasia, Abnormal lung morphology, Abnormal lung lobatio...	ORPHA:141127
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Catel-Manzke Syndrome	Ventricular septal defect, Cleft palate, Glossoptosis, Atrial septal defect, Ventriculomegaly	ORPHA:1388
Cantu Syndrome	Bicuspid aortic valve, Depressed nasal bridge, Anteverted nares, Cardiomegaly, Pericardial effusi...	OMIM:239850
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	High palate, Gastroesophageal reflux, Atrial septal defect, Recurrent aspiration pneumonia, Paten...	ORPHA:280633
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Patent ductus arteriosus, Respiratory insufficiency, Coarctation of aorta, Bilateral lung agenesi...	OMIM:601612
Adams-Oliver Syndrome 5	Splenomegaly, Right atrial enlargement, Esophageal varix, Pulmonic stenosis, Pulmonary arterial h...	OMIM:616028
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney diseas...	OMIM:613496
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Inability to walk, Cerebellar vermis atrophy	OMIM:619389
Intellectual Developmental Disorder, Autosomal Recessive 47	Mitral valve prolapse	OMIM:616193
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Agenesis of corpus callosum, Hydrocephalus, Rhizomelia	OMIM:166990
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Hepatomegaly, Ventricular septal defect, Proteinuria, Nephropathy, Nephrocalcinosis, Renal tubula...	OMIM:613404
Ververi-Brady Syndrome	High palate, Transposition of the great arteries	OMIM:617982
Tetrasomy 15Q26	Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, High palate, Atrial septal defe...	OMIM:614846
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an...	OMIM:613834
Epilepsy, Progressive Myoclonic, 8	Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Limb ataxia, Choreoathetosis, G...	OMIM:616230
Sodium-Dependent Multivitamin Transporter Deficiency	Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Microcephaly	OMIM:618973
Ellis-Van Creveld Syndrome	Atrial septal defect, Cryptorchidism, Common atrium, Dandy-Walker malformation	OMIM:225500
Marden-Walker Syndrome	Skeletal muscle atrophy, Micrognathia, Epispadias, Bifid uvula, Abnormal penis morphology, Multic...	ORPHA:2461
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Thrombocytopenia, Patent ductus a...	OMIM:277380
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Dextrocardia, Cryptorchidism, Coarctation of aorta, High palate, Atrioventricular canal defect	OMIM:618929
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive	Cerebellar atrophy, Microcephaly	OMIM:615596
Distal Duplication 5Q	Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Prominent nasal bridge, Hypospad...	ORPHA:96097
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Neonatal respiratory distress, Hydrocephalus	OMIM:266100
Gaisböck Syndrome	Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch...	ORPHA:90041
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Neonatal respiratory distress, Hypertrophic cardiomyopathy, Ketonuria, Renal hypoplasia	OMIM:619053
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Attrv122I Amyloidosis	Abnormal enteric nervous system morphology, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic val...	ORPHA:85451
Pontocerebellar Hypoplasia, Type 1E	Cerebellar atrophy, Respiratory failure requiring assisted ventilation, Cerebellar hypoplasia, Hy...	OMIM:619303
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Hypospadias, Choanal atresia, Micrognathia, Short thumb, Patent ductus...	OMIM:619148
Familial Aortic Dissection	Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis...	ORPHA:229
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus, Periodontitis, Hearing impairment	ORPHA:1008
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Feingold Syndrome Type 1	Jejunal atresia, Tricuspid stenosis, Esophageal atresia, Patent ductus arteriosus, Multiple muscu...	ORPHA:391641
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Short stature, Ataxia, Inability to walk, Hydrocephalus, Secondary microcephaly, Cerebellar hypop...	OMIM:618174
Nemaline Myopathy 9	Cleft palate, High palate, Ventricular septal defect, Respiratory insufficiency	OMIM:615731
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla...	OMIM:619902
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation, Macrocephaly	OMIM:607091
Split-Hand/Foot Malformation 3	Renal hypoplasia	OMIM:246560
Holt-Oram Syndrome	Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l...	OMIM:142900
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia	OMIM:152800
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Ventricular septal defect, Prominent nasal bridge, Aganglionic megacolon, Bulbous nose, Patent du...	OMIM:613870
Spinocerebellar Ataxia 11	Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun...	OMIM:604432
Von Willebrand Disease	Venous insufficiency, Abnormal mitral valve morphology	ORPHA:903
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, External ear malformation, Bronch...	ORPHA:33110
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Spinocerebellar Ataxia 23	Cerebellar atrophy, Dysmetria, Gait ataxia, Limb ataxia, Neuronal loss in central nervous system,...	OMIM:610245
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Ventriculomegaly, Cardiomegaly, Jaundice, Hydrocepha...	ORPHA:858
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Ventricular septal defect, Dextrocardia, Cryptorchidism, Cleft palate, Coronar...	OMIM:614294
Ciliary Dyskinesia, Primary, 44	Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit...	OMIM:618781
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventricular septal defect, Hydrocephalus, Vascular ring, Atrial septal defect, Ventriculomegaly	OMIM:603387
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Congenital Fibrinogen Deficiency	Left ventricular hypertrophy, Micropenis, Volvulus, Right ventricular hypertrophy	ORPHA:335
Leukodystrophy, Hypomyelinating, 17	Cerebellar atrophy, Mandibular prognathia, Microcephaly, Inability to walk, Cerebral atrophy, Gro...	OMIM:618006
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia	ORPHA:3204
Cardiomyopathy, Familial Hypertrophic, 14	Left ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:613251
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Sinusitis, Recurrent bacterial upper respiratory tract infections, Asthma, Atopic dermatitis, Rhi...	ORPHA:70593
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia	ORPHA:158048
Peripartum Cardiomyopathy	Orthopnea, Left atrial enlargement, Crackles, Myocarditis, Dyspnea, Dilated cardiomyopathy, Asthm...	ORPHA:563
Global Developmental Delay With Or Without Impaired Intellectual Development	Ventricular septal defect, Patent ductus arteriosus, Lateral ventricle dilatation, Pulmonary sequ...	OMIM:618330
Congenital Muscular Dystrophy Without Intellectual Disability	Cerebellar atrophy, Microcephaly, Tip-toe gait, Difficulty walking, Ventriculomegaly, Cerebellar ...	ORPHA:370980
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Urethral obstruction, Renal dysplasia, Renal hypoplasia, Hypertrophy of the urinary bladder	OMIM:601389
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Multiple Mitochondrial Dysfunctions Syndrome 6	Cerebellar atrophy, Ataxia, Inability to walk, Dysmetria, Secondary microcephaly, Atrophy/Degener...	OMIM:617954
Pontocerebellar Hypoplasia, Type 1A	Ataxia, Microcephaly, Hypoplasia of the pons, Respiratory insufficiency, Limb ataxia, Hypoplasia ...	OMIM:607596
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation	OMIM:123155
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Anteverted nares, Dextrocardia, Micrognathia, High, narrow palate, Abn...	ORPHA:96092
Hyperlysinemia	Argininuria, Recurrent pneumonia, Depressed nasal ridge, Cystinuria, Pulmonary artery hypoplasia,...	ORPHA:2203
Frank-Ter Haar Syndrome	Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, High palate, Atr...	OMIM:249420
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Congenital Disorder Of Glycosylation, Type Iin	Cerebellar atrophy, Short stature, Inability to walk, Cerebral atrophy, Cerebellar vermis atrophy...	OMIM:616721
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Cerebellar atrophy, Mandibular prognathia, Ataxia, Cerebellar hypoplasia, Atrophy/Degeneration af...	OMIM:619971
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Dyspnea, Asthma, Chronic pulmonary obstruction, A...	ORPHA:1163
Spinocerebellar Ataxia Type 43	Unsteady gait, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy	ORPHA:497764
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Ceroid Lipofuscinosis, Neuronal, 11	Cerebellar atrophy, Ataxia	OMIM:614706
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis, Pulmonic stenosis	OMIM:264140
Isolated Cleft Lip	Situs inversus totalis	ORPHA:199302
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Atrial septal defect, Macrocytic anemia, Ventricular septal defect, Pate...	OMIM:612561
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Unsteady gait, Dysmet...	OMIM:616127
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Respiratory ins...	OMIM:614654
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Bardet-Biedl Syndrome 3	Renal hypoplasia	OMIM:600151
Intellectual Developmental Disorder, Autosomal Recessive 68	Cerebellar atrophy, Microcephaly, Hypoplasia of the maxilla, Hydrocephalus, Protruding ear	OMIM:618302
Cardiomyopathy, Dilated, 1V	Left ventricular hypertrophy, Dilated cardiomyopathy	OMIM:613697
Dystonia With Cerebellar Atrophy	Cerebellar atrophy, Progressive cerebellar ataxia	OMIM:611694
Familial Visceral Myopathy	Abdominal situs inversus	ORPHA:2604
Pontocerebellar Hypoplasia, Type 6	Cerebellar atrophy, Cerebellar vermis hypoplasia, Apnea, Microcephaly, Cerebral atrophy, Increase...	OMIM:611523
Cach Syndrome	Cerebellar atrophy, Microcephaly, Progressive macrocephaly, Truncal ataxia, Cerebral atrophy, Dys...	ORPHA:135
Hypomagnesemia 4, Renal	Hypomagnesemia	OMIM:611718
Ogden Syndrome	Apnea, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic...	OMIM:300855
Cardiomyopathy, Familial Hypertrophic, 17	Left ventricular hypertrophy, Dyspnea, Hypertrophic cardiomyopathy, Myocardial fibrosis	OMIM:613873
Even-Plus Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Renal hypoplasia, Atrial septal defect...	OMIM:616854
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Dextrocardia, Micrognathia, Tracheoesophageal fistula, Urete...	ORPHA:2437
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency, Hypoplastic left ...	OMIM:616276
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency, Increased CSF lactate	ORPHA:238329
Supravalvular Aortic Stenosis	Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis	OMIM:185500
Testicular Anomalies With Or Without Congenital Heart Disease	Corpus cavernosum hypoplasia, Tetralogy of Fallot, Microphallus, Perineal hypospadias	OMIM:615542
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Idiopathic Pulmonary Arterial Hypertension	Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Right ventr...	ORPHA:275766
Tangier Disease	Hepatomegaly, Splenomegaly, Facial diplegia, Distal amyotrophy, Left ventricular hypertrophy, Cor...	OMIM:205400
Wolf-Hirschhorn Syndrome	Recurrent respiratory infections, Abnormal heart valve morphology, Abnormality of the gallbladder...	ORPHA:280
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Left ventricular hypertrophy, Increased urine alpha-ketoglutarate concentration	OMIM:614458
Pancreatic And Cerebellar Agenesis	Death in infancy, Apnea, Secundum atrial septal defect, Pancreatic hypoplasia, Anemia, Pancreatic...	OMIM:609069
Stuve-Wiedemann Syndrome 2	Respiratory distress, Eczema, Pulmonary arterial hypertension, Stillbirth, Neonatal death, Intrau...	OMIM:619751
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Micrognathia, Short metatarsal, Patellar hypoplasia, Knee flexion contracture, Hand monodactyly, ...	OMIM:609945
Oligomeganephronia	Secundum atrial septal defect, Pulmonary venous occlusion, Pulmonary hypoplasia	ORPHA:2260
Joubert Syndrome 20	Respiratory insufficiency, Renal cyst	OMIM:614970
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Iron deficiency ane...	ORPHA:1667
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Short stature, Ataxia, Unsteady gait, Dysmetria, Gait ataxia, Limb atax...	OMIM:213200
Myopathy And Diabetes Mellitus	Respiratory distress, Inability to walk, Sensorineural hearing impairment, Progressive cerebellar...	ORPHA:2596
Noonan Syndrome 12	Ventricular septal defect, Thrombocytopenia, Tetralogy of Fallot, Anteriorly placed anus, Lymphop...	OMIM:618624
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated hepatic transaminase, Hepatomegaly, Ventriculomegaly, Ventricular septal defect, Cryptor...	OMIM:301056
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
2,4-Dienoyl-Coa Reductase Deficiency	Cerebellar atrophy, Ataxia, Microcephaly, Hydrocephalus, Cerebral atrophy, Increased CSF lactate,...	OMIM:616034
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Hydrocephalus, Vacuolated lymphocytes, High palate, Dea...	OMIM:269920
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Mitochondrial Complex I Deficiency, Nuclear Type 12	Cerebellar atrophy, Ataxia, Unsteady gait, Choreoathetosis, Gait imbalance, Progressive sensorine...	OMIM:301020
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus, Ventricular septal defect	OMIM:619717
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Immunodeficiency 43	Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia	OMIM:241600
Proximal 16P11.2 Microdeletion Syndrome	Dextrocardia, Pyloric stenosis, Cleft palate, Abnormal heart morphology, Abnormal aortic valve mo...	ORPHA:261197
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Neonatal respiratory distress, Bicuspid aortic valve, Intestinal malrotation...	ORPHA:2847
Stormorken Syndrome	Howell-Jolly bodies, Subarachnoid hemorrhage, Asplenia, Stroke-like episode, Anemia, Hypoplastic ...	OMIM:185070
Congenital Hydrocephalus	Posteriorly rotated ears, Hydrocephalus, Sensorineural hearing impairment, Colpocephaly, Macrocep...	ORPHA:2185
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Ataxia, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia	ORPHA:1116
Aortic Aneurysm, Familial Thoracic 7	Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture	OMIM:613780
Scedosporiosis	Bronchial breath sound, Sinusitis, Arthralgia/arthritis, Pneumonia, Pericarditis, Osteomyelitis, ...	ORPHA:449280
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ...	OMIM:609637
Progressive Non-Infectious Anterior Vertebral Fusion	Abdominal situs inversus	ORPHA:2062
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Hypophosphatasia	Hypercalcemia	ORPHA:436
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of penis, Ventricular septal defect, Renal hypoplasia	ORPHA:2256
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Neonatal respiratory distress, Mitral atresia, Patent ductus arteriosus, Double outlet right vent...	OMIM:618164
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Bicuspid aortic valve, Depressed nasal bridge, Choanal atresia, Ventricu...	ORPHA:284169
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Renpenning Syndrome 1	Mandibular prognathia, Ventricular septal defect, Hypospadias, Phimosis, Situs inversus totalis, ...	OMIM:309500
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Cardiomyopathy, Respir...	OMIM:614922
Cardiomyopathy, Familial Hypertrophic, 10	Dyspnea, Ventricular septal hypertrophy, Asymmetric septal hypertrophy, Left ventricular hypertro...	OMIM:608758
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Congenital diaphragmatic hernia, Atrial septal defect, Pulmonary arteria...	OMIM:300887
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hy...	ORPHA:1335
Ring Chromosome 12 Syndrome	Secundum atrial septal defect, Cryptorchidism, High, narrow palate	ORPHA:1439
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventriculomegaly, Ventricular septal d...	OMIM:614576
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	Progressive truncal ataxia, Broad-based gait, Short stature, Dysmetria, Growth delay, Retrocerebe...	ORPHA:363429
Congenital Disorder Of Glycosylation, Type Iii	Cerebellar atrophy, Short stature, Microcephaly, Truncal ataxia, Cerebral atrophy, Atrophy/Degene...	OMIM:613612
Encephalocraniocutaneous Lipomatosis	Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap...	ORPHA:2396
Hemiparkinsonism-Hemiatrophy Syndrome	Neonatal asphyxia, Lateral ventricle dilatation, Difficulty walking, Cerebral cortical hemiatroph...	ORPHA:306669
Alexander Disease	Ataxia, Hydrocephalus, Progressive macrocephaly, Dysmetria, Abnormal dentate nucleus morphology, ...	OMIM:203450
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Spinocerebellar Ataxia, Autosomal Recessive 15	Cerebellar atrophy, Unsteady gait, Ataxia, Gait ataxia	OMIM:615705
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Asthma, Patent ductus ar...	OMIM:606003
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Recurrent pneumonia, Recurrent upper respiratory...	ORPHA:277
Orofaciodigital Syndrome Xvii	Micropenis, Tetralogy of Fallot, Renal hypoplasia	OMIM:617926
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Ataxia, Gait ataxia	ORPHA:98769
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Renal Hypoplasia, Bilateral	Neonatal respiratory distress, Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, R...	ORPHA:97362
Tetralogy Of Fallot	Cryptorchidism, Tetralogy of Fallot	ORPHA:3303
Bardet-Biedl Syndrome 4	Abnormality of the kidney, Renal cyst	OMIM:615982
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Short stature, Osteomyelitis, Skin rash, Sensor...	ORPHA:47
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Dyspnea, Achilles tendon contracture, Ragged-red muscle fibers, EMG: myo...	OMIM:615418
Spinocerebellar Ataxia, Autosomal Recessive 6	Cerebellar atrophy, Short stature, Ataxia, Dysmetria, Gait ataxia	OMIM:608029
Mitochondrial Complex I Deficiency, Nuclear Type 5	Cerebellar atrophy, Apnea, Ataxia, Microcephaly, Respiratory insufficiency, Increased CSF lactate...	OMIM:618226
Joubert Syndrome 30	Cerebellar atrophy, Ventriculomegaly, Apnea, Tachypnea, Superior cerebellar dysplasia, Dandy-Walk...	OMIM:617622
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Phaver Syndrome	Ventricular septal defect, Depressed nasal bridge, Camptodactyly of finger, Short thumb, Hypoplas...	ORPHA:2876
Intellectual Developmental Disorder, X-Linked 91	Small hand, Short foot, High palate, Short 5th finger, Short nose	OMIM:300577
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Skeletal muscle atrophy, Vesicoureteral reflux, Knee flexion contra...	ORPHA:3208
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Facial hy...	ORPHA:308552
Cenani-Lenz Syndactyly Syndrome	Renal agenesis, Renal hypoplasia, Pulmonic stenosis, Ectopic kidney	OMIM:212780
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Ataxia	OMIM:619099
Agammaglobulinemia 4, Autosomal Recessive	Recurrent otitis media, Recurrent pneumonia, Chronic sinusitis	OMIM:613502
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Cerebellar atrophy, Microretrognathia, Low-set ears, Primary microcephaly, ...	ORPHA:89844
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, High palate, Double outle...	OMIM:616652
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Ataxia	OMIM:141500
Feingold Syndrome Type 2	Jejunal atresia, Ventricular septal defect	ORPHA:391646
Christianson Syndrome	Cerebellar atrophy, Mandibular prognathia, Microcephaly, Macrotia, Gait ataxia, Truncal ataxia, A...	ORPHA:85278
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Congenital diaphragmatic hernia, Abnormal lung lobation, Renal cyst, Short...	OMIM:312870
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Increased mean platelet volume, Patent ductus arteriosus, Abnormality of the lymphatic system, Ab...	ORPHA:487796
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi...	OMIM:132900
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Cerebellar atrophy, Microcephaly, Corpus callosum atrophy, Cerebral atrophy...	OMIM:619272
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Ataxia, Neurodegeneration, Cerebral atrophy	OMIM:610951
Diamond-Blackfan Anemia 21	Secundum atrial septal defect, Erythroid hypoplasia, Thrombocytopenia, Anemia	OMIM:620072
Microcephaly-Cardiomyopathy Syndrome	High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect, Ventriculomegaly	ORPHA:2515
Alg3-Cdg	Coarctation of the descending aortic arch, Cardiomyopathy, Neural tube defect, Macroglossia, High...	ORPHA:79321
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Infantile Cerebellar-Retinal Degeneration	Cerebellar atrophy, Ataxia, Microcephaly, Sensorineural hearing impairment, Athetosis, Cerebral c...	OMIM:614559
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Episodic tachypnea...	ORPHA:163961
Adams-Oliver Syndrome 6	Truncus arteriosus, Ventricular septal defect, Renal hypoplasia	OMIM:616589
3C Syndrome	Hypoplasia of penis, Micrognathia, High, narrow palate, Abnormal tricuspid valve morphology, Gast...	ORPHA:7
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Ataxia, Unsteady gait, Dysmetria, Truncal ataxia	OMIM:616948
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Fetal Encasement Syndrome	Bilateral trilobed lung, Tetralogy of Fallot, Increased urinary 8-oxo-7,8-dihydroguanosine level,...	OMIM:613630
Band Heterotopia	Hydrocephalus, Lateral ventricle dilatation, Macrocephaly, Agenesis of corpus callosum, Ventricul...	OMIM:600348
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly...	ORPHA:290
Cranioacrofacial Syndrome	Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Microretrognathia, Agenesis of cerebellar vermis, Hydrocephalus, Partia...	OMIM:220220
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Mitral valve prolapse, At...	ORPHA:371428
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Microcephaly, Macrotia, Cerebral atrophy, Growth delay, Dandy-Walker malformation, Cerebellar ver...	OMIM:616154
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Brachytelephalangic Chondrodysplasia Punctata	Hypoplasia of the maxilla, Tachypnea, Depressed nasal ridge, Gastroesophageal reflux, Atrial sept...	ORPHA:79345
Digeorge Syndrome	High, narrow palate, Abnormal thymus morphology, Hypoplasia of the thymus, High palate, Hepatic s...	OMIM:188400
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Left ventricular noncompaction, ...	OMIM:619167
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Apnea, Ventricular septal defect, Increased CSF lactate, Respiratory failure, H...	OMIM:616277
Hemidystonia-Hemiatrophy Syndrome	Rhizomelic leg shortening, Abnormal paranasal sinus morphology, Advanced pneumatization of crania...	ORPHA:306741
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Dyspnea, Right ventricular hypertro...	ORPHA:1677
Intellectual Developmental Disorder, Autosomal Dominant 21	Cryptorchidism, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Atrial septal defec...	OMIM:615502
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Pharyngitis, Dyspnea, H...	ORPHA:140896
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Verheij Syndrome	Renal agenesis, Ventricular septal defect, Renal hypoplasia, Renal cyst, Truncus arteriosus	OMIM:615583
Joubert Syndrome 22	Renal hypoplasia	OMIM:615665
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Isolated Dandy-Walker Malformation	Encephalocele, Cleft palate, Tetralogy of Fallot, Dandy-Walker malformation	ORPHA:217
Distal Triplication 15Q	Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, Abnormal heart morphology, Hydr...	ORPHA:314588
L-2-Hydroxyglutaric Aciduria	Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Global brain atrophy, Hearing impairment	OMIM:236792
Dystonia 23	Cerebellar atrophy, Gait disturbance, Cerebral cortical atrophy	OMIM:614860
Fryns Syndrome	Ventriculomegaly, Aganglionic megacolon, Intestinal malrotation, Cryptorchidism, Abnormal aortic ...	ORPHA:2059
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Micropenis, Renal agenesis, Hypospadias, Renal hypoplasia	ORPHA:171839
Aortic Aneurysm, Familial Thoracic 8	Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor...	OMIM:615436
Peho-Like Syndrome	Cerebellar atrophy, Ventriculomegaly, Retrognathia, Progressive microcephaly	OMIM:617507
Developmental And Epileptic Encephalopathy 99	Central apnea, Cerebellar atrophy, Microcephaly, Frontotemporal cerebral atrophy, Atrophy/Degener...	OMIM:619606
Renal And Mullerian Duct Hypoplasia	Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney	OMIM:266810
Leukodystrophy, Hypomyelinating, 21	Cerebellar atrophy, Ataxia, Microcephaly, Corpus callosum atrophy, Growth delay, Athetosis	OMIM:619310
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, Unsteady gait, Limb ataxia, Cerebellar hypoplasia, Truncal ataxia	OMIM:615768
Thanatophoric Dysplasia Type 2	Encephalocele, Patent ductus arteriosus, Hydrocephalus, Respiratory insufficiency, Aplasia/Hypopl...	ORPHA:93274
Aortic Valve Disease 3	Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Joubert Syndrome With Ocular Defect	Encephalocele, Apnea, Dextrocardia, Aganglionic megacolon, Hydrocephalus, Cleft palate, Abnormal ...	ORPHA:220493
Juvenile Huntington Disease	Cerebellar atrophy, Ventriculomegaly, Broad-based gait, Ataxia, Gait ataxia, Progressive cerebell...	ORPHA:248111
Isolated Polycystic Liver Disease	Multiple renal cysts, Respiratory insufficiency	ORPHA:2924
Mitral Valve Prolapse 3	Mitral valve prolapse	OMIM:610840
Mitral Valve Prolapse 2	Mitral valve prolapse	OMIM:607829
Mogs-Cdg	Respiratory distress, Hepatomegaly, Wide nose, Hypoventilation, Apnea, Cardiomegaly, Retrognathia...	ORPHA:79330
Burn-Mckeown Syndrome	Atrial septal defect, Ventricular septal defect, Renal hypoplasia, Unilateral renal agenesis	OMIM:608572
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Cerebellar atrophy, Ataxia, Microcephaly, Sensorineural hearing impairment, Cerebral atrophy, Res...	OMIM:618170
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ventricular septal defect, Long nose, Bulbous nose, Patent ductus arteriosus, Short sternum, High...	OMIM:620113
Phenobarbital Embryopathy	Abnormal mitral valve morphology, Tetralogy of Fallot	ORPHA:1919
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Cardiomegaly, Proximal muscle weakness...	ORPHA:268
Craniotelencephalic Dysplasia	Low-set, posteriorly rotated ears, Microcephaly, Hydrocephalus, Frontal encephalocele, Cerebellar...	ORPHA:1528
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect, Short nose, Delayed eruption of permanent teeth, Anteverted nares	OMIM:618506
Peroxisome Biogenesis Disorder 6A (Zellweger)	Renal cyst	OMIM:614870
Mungan Syndrome	Vesicoureteral reflux, Perimembranous ventricular septal defect, Renal hypoplasia, Pulmonic stenosis	OMIM:611376
Floating-Harbor Syndrome	Celiac disease, Cryptorchidism, Coarctation of aorta, Atrial septal defect, Mesocardia, Persisten...	OMIM:136140
Hardikar Syndrome	Vesicoureteral reflux, Atrial septal defect, Bladder exstrophy, Patent foramen ovale, Hepatomegal...	OMIM:301068
Li-Campeau Syndrome	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Patent...	OMIM:619189
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Restrictive ve...	OMIM:614376
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Abnormal pinna morphology, Microcephaly, Micrognathia, Recurrent upper ...	ORPHA:3078
Spinocerebellar Ataxia 13	Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Limb dysmetria, Hear...	OMIM:605259
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Coarctation of aorta	OMIM:140850
Fetal Minoxidil Syndrome	Cryptorchidism, Ventricular septal defect	ORPHA:1918
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia	ORPHA:284271
Spinocerebellar Ataxia, X-Linked 1	Cerebellar atrophy, Unsteady gait, Ataxia	OMIM:302500
Autosomal Recessive Spastic Paraplegia Type 74	Cerebellar atrophy, Difficulty walking	ORPHA:468661
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Contracture of the proximal interphalangeal joint of the 3rd finger, Anteverted nares, Choanal at...	OMIM:301044
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2	Growth delay, Inability to walk, Cerebellar atrophy, Secondary microcephaly	OMIM:617086
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Muscular dystrophy, Respiratory insufficiency	OMIM:613153
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Cerebellar atrophy, Broad-based gait, Ataxia, Unsteady gait, Dysmetria, Respiratory insufficiency...	OMIM:616479
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Death in infancy, Hepatomegaly, Ventricular septal defect, Cryptorchidism, Neonatal death, Ventri...	OMIM:613730
Fanconi Anemia, Complementation Group O	Rectal atresia, Stage 5 chronic kidney disease, Renal cyst, Abnormal heart morphology, Hydronephr...	OMIM:613390
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ...	OMIM:265120
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Mic...	OMIM:616894
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst	OMIM:236500
Spinocerebellar Ataxia 38	Ataxia, Limb ataxia, Gait ataxia, Atrophy/Degeneration affecting the brainstem, Cerebellar vermis...	OMIM:615957
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Eczema, Microcephaly, Sensorineural heari...	OMIM:617751
Epilepsy, Progressive Myoclonic, 11	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia	OMIM:618876
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Cerebral atrophy	OMIM:610003
Feingold Syndrome 2	Ventricular septal defect, Intestinal atresia	OMIM:614326
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, Micrognathia, High, narrow pa...	OMIM:619472
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Cerebellar vermis hypoplasia, Inability to walk, Dysmetria, Gait ataxia, Gait...	OMIM:618090
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Macrotia, Micrognathia, Microcephaly	OMIM:300934
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia	OMIM:613845
Cog7-Cdg	Cerebellar atrophy, Micrognathia, Postnatal growth retardation, Subcortical cerebral atrophy, Bra...	ORPHA:79333
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Rheumatic Fever	Pericarditis, Sinusitis, Epistaxis, Myocarditis, Recurrent pharyngitis, Respiratory insufficiency...	ORPHA:3099
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness, Short stature, Micrognathia	OMIM:300580
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Lateral ventricle dilatation, Neurodegeneration, Ataxia	OMIM:615889
Floating-Harbor Syndrome	Celiac disease, Cryptorchidism, Tetralogy of Fallot, Coarctation of aorta, Atrial septal defect, ...	ORPHA:2044
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Micrognathia, Patent ductus arteriosus...	ORPHA:2547
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Recurrent respiratory infections, Ciliary dyskinesia	ORPHA:1882
You-Hoover-Fong Syndrome	Coarctation of aorta, Double aortic arch, Vascular ring	OMIM:616954
Corpus Callosum, Partial Agenesis Of, X-Linked	Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Infe...	OMIM:304100
Neurodevelopmental Disorder With Dystonia And Seizures	Cerebellar atrophy, Athetosis, Cerebellar hypoplasia, Intrauterine growth retardation, Cerebral c...	OMIM:619922
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Dysmetria, Dysdiadoch...	OMIM:256731
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular...	OMIM:617168
Lissencephaly 5	Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Cerebellar hemisphere hypop...	OMIM:615191
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
Spinocerebellar Atrophy With Pupillary Paralysis	Spinocerebellar atrophy	OMIM:183100
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Knobloch Syndrome	Occipital encephalocele, Dextrocardia, Pyloric stenosis, Patent ductus arteriosus, Hydrocephalus,...	ORPHA:1571
Joubert Syndrome 7	Central apnea, Episodic tachypnea, Tachypnea, Stage 5 chronic kidney disease, Renal cyst, Nephron...	OMIM:611560
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Brain atrophy, Hydrane...	OMIM:617967
Cardiac Valvular Dysplasia 1	Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Pulmonic s...	OMIM:212093
Deafness, Dystonia, And Cerebral Hypomyelination	Cerebellar atrophy, Microcephaly, Sensorineural hearing impairment, Cerebral atrophy, Intrauterin...	OMIM:300475
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Ventriculomegaly	OMIM:618974
Congenital Aortic Valve Stenosis	Thoracic aortic aneurysm, Aortic valve calcification, Aortic valve atresia, Endocarditis, Exertio...	ORPHA:3093
Pyruvate Dehydrogenase E1-Alpha Deficiency	Neonatal respiratory distress, Ataxia, Microcephaly, Inability to walk, Partial agenesis of the c...	ORPHA:79243
Gracile Bone Dysplasia	Death in infancy, Asplenia, Hydrocephalus, Hypoplastic spleen, Ankyloglossia	OMIM:602361
Maternal Phenylketonuria	Ventricular septal defect, Esophageal atresia, Coarctation of aorta, Abnormal heart morphology, H...	ORPHA:2209
Klippel-Trénaunay Syndrome	Hepatomegaly, Peripheral arteriovenous fistula, Pulmonary embolism, Venous insufficiency, Microcy...	ORPHA:90308
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Dilated fourth ventricle, Cerebellar atrophy, Diffuse cerebral atrophy, Short stature, Ataxia, Dy...	ORPHA:1170
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Camptodactyly of finger, Micrognathia, Recurrent pneumonia, Gastroesophageal reflux, Short nose	ORPHA:1495
Spinocerebellar Ataxia 35	Cerebellar atrophy, Ataxia, Dysmetria, Difficulty walking, Loss of ambulation	OMIM:613908
Isolated Atp Synthase Deficiency	Respiratory distress, Dilated cardiomyopathy, Renal hypoplasia, 3-Methylglutaconic aciduria, Hype...	ORPHA:254913
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus, Broad-based gait, Microcephaly	OMIM:619470
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Protruding tongue, Abnormal heart morphology	DECIPHER:52
Agammaglobulinemia 6, Autosomal Recessive	Recurrent otitis media, Conjunctivitis, Recurrent pneumonia, Chronic sinusitis	OMIM:612692
Hereditary Methemoglobinemia	Cerebellar atrophy, Microcephaly, Temporal cortical atrophy, Athetosis, Frontal cortical atrophy,...	ORPHA:621
Scleromyxedema	Abnormality of the gastrointestinal tract, Abnormal coronary artery morphology, Transient ischemi...	ORPHA:167635
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal stenosis, Aganglionic megacolon, Broad nasal tip, Wide nasal bridge, Vesicoureteral reflux, ...	OMIM:614749
Cerebellar Atrophy, Developmental Delay, And Seizures	Cerebellar atrophy	OMIM:617643
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar atrophy, Micrognathia, Cerebral atrophy, Cerebellar hemisphere hypoplasia, Primary mic...	OMIM:615095
Spinocerebellar Ataxia Type 35	Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Difficult...	ORPHA:276193
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Cardiomegaly, Abnormal internal carotid artery morphology, Flexion contract...	ORPHA:365
Prune Belly Syndrome	Recurrent respiratory infections, Multicystic kidney dysplasia, Renal insufficiency, Ventricular ...	ORPHA:2970
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Unilateral renal agenesis, Renal hypoplasia, Abnormal heart morphology...	OMIM:618494
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Pontocerebellar Hypoplasia, Type 3	Cerebellar atrophy, Short stature, Hypoplasia of the pons, Cerebral atrophy, Cerebellar hypoplasi...	OMIM:608027
Diets-Jongmans Syndrome	Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Broad nasal tip, Heterot...	OMIM:618846
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Pulmonary artery stenosis, R...	ORPHA:75389
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Hypotonia, Infantile, With Psychomotor Retardation	Respiratory insufficiency due to muscle weakness, Cryptorchidism, Lateral ventricle dilatation, V...	OMIM:616816
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Cerebellar atrophy, Broad-based gait, Gait ataxia, Difficulty walking, Cerebral cortical atrophy,...	ORPHA:512260
Pontocerebellar Hypoplasia, Type 12	Micrognathia, Cerebral atrophy, Lateral ventricle dilatation, Cerebellar hypoplasia, Primary micr...	OMIM:618266
Cardiomyopathy, Familial Hypertrophic, 11	Dyspnea, Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaort...	OMIM:612098
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, High, narrow palate, Abnormal lung lobation, Cleft palate, Abnormal ao...	ORPHA:2516
Kleefstra Syndrome	Mandibular prognathia, Hypoplasia of penis, Bicuspid aortic valve, Renal cyst, Gastroesophageal r...	ORPHA:261494
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Cerebellar atrophy, Ataxia, Inability to walk, Gait ataxia, Enamel hypoplasia, Retrognathia	OMIM:617915
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Renal hypoplasia	OMIM:604273
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short nose, Abnormal cardiac septum morphology	ORPHA:2370
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Pyloric stenosis, Asthma, Pulmonic stenosis, Atrial septal defect	OMIM:614262
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Unsteady gait, Dysmetria, Gait ataxia, Pontocerebellar atrophy, Dysdiad...	OMIM:616053
Igg4-Related Aortitis	Intestinal obstruction, Thoracic aortic aneurysm, Asthma, Abnormal aortic arch morphology, Ascend...	ORPHA:449400
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Aganglionic megacolon, Hydronephrosis, Anal atresia	OMIM:235760
Spinocerebellar Ataxia, Autosomal Recessive 4	Cerebellar atrophy, Gait ataxia, Ataxia, Microcephaly	OMIM:607317
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Anteverted nares, Ventricular septal defect, Hypospadias, Cardiomegaly, Micrognathia...	OMIM:616897
Neurooculorenal Syndrome	Dextrocardia, Intestinal malrotation, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Mitral ...	OMIM:620305
Lowry-Maclean Syndrome	Hypospadias, Choanal atresia, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the ma...	ORPHA:2409
Cln3 Disease	Left ventricular hypertrophy, Urinary bladder sphincter dysfunction, Dysphagia	ORPHA:228346
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Complete atrioventricular canal defect	ORPHA:476126
Alg13-Cdg	Abnormal lateral ventricle morphology, Global brain atrophy	ORPHA:324422
Cardiac-Valvular Ehlers-Danlos Syndrome	Abnormal heart valve morphology, Dyspnea, Bulbous nose, Mitral valve prolapse, Aortic root aneury...	ORPHA:230851
Bare Lymphocyte Syndrome, Type I	Chronic otitis media, Emphysema, Chronic sinusitis, Bronchiectasis	OMIM:604571
Choanal Atresia	Respiratory distress, Subglottic stenosis, Upper airway obstruction, Laryngomalacia, Tracheomalac...	ORPHA:137914
Non-Distal Duplication 10Q	Depressed nasal bridge, Micrognathia, High palate, Short nose, Convex nasal ridge	ORPHA:1695
Spinocerebellar Ataxia, Autosomal Recessive 14	Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis	OMIM:615386
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:254210
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Short stature, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, ...	OMIM:307200
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Prune1-Related Neurological Syndrome	Cerebellar atrophy, Microcephaly, Micrognathia, Inability to walk, Cerebral atrophy, Respiratory ...	ORPHA:544469
Spinocerebellar Ataxia Type 25	Progressive cerebellar ataxia, Diffuse cerebellar atrophy, Abnormal cerebellar cortex morphology,...	ORPHA:101111
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Recurrent respiratory infections, Natal tooth, Depressed nasal bridge, Choanal atresia, Facial pa...	OMIM:620186
Yellow Nail Syndrome	Sinusitis, Dyspnea, Bronchiectasis, Rhinitis, Cough, Pulmonary arterial hypertension	ORPHA:662
Mitochondrial Complex I Deficiency, Nuclear Type 15	Neonatal death, Intrauterine growth retardation, Cerebellar atrophy, Hearing impairment	OMIM:618237
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ...	OMIM:617641
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Cerebral atrophy, Dysmetria, Choreoathetosis...	OMIM:618088
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Cerebellar atrophy, Microcephaly, Restrictive ventilatory defect, Respiratory failure, Tip-toe ga...	OMIM:606612
Giant Cell Arteritis	Glossitis, Pericarditis, Aortic dissection, Epistaxis, Abnormal pleura morphology, Recurrent phar...	ORPHA:397
Pontocerebellar Hypoplasia, Type 2D	Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Progressive microcephaly	OMIM:613811
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Short stature, Pneumonia, Micrognathia, Bronchiectasis, Low-set ears, Malar flattening	OMIM:242860
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Hydrocephalus, High, narrow palate, Mitral valve prolapse	ORPHA:2183
Pontocerebellar Hypoplasia, Type 15	Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Hydr...	OMIM:619302
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Central apnea, Cerebellar atrophy, Ataxia, Gait apraxia, Cerebral atrophy, Dysmetria, Gait ataxia...	OMIM:615157
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Neurodevelopmental Disorder With Involuntary Movements	Cerebellar atrophy, Microcephaly, Cerebral atrophy, Athetosis, Atrophy/Degeneration affecting the...	OMIM:617493
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Leukemia, Ventricular septal defect, Hydrocephalus, Ventriculomegaly	OMIM:602501
Atrial Septal Defect, Ostium Primum Type	Recurrent respiratory infections, Left atrial enlargement, Dyspnea, Tachypnea, Abnormal respirato...	ORPHA:99106
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Gait disturb...	OMIM:617145
Thanatophoric Dysplasia	Hydrocephalus, Patent ductus arteriosus, Respiratory insufficiency, Pulmonary hypoplasia, Atrial ...	ORPHA:2655
Charge Syndrome	Secundum atrial septal defect, Holoprosencephaly, Atrial septal defect, Pulmonary artery atresia,...	OMIM:214800
Spastic Paraplegia 75, Autosomal Recessive	Cerebellar atrophy, Corpus callosum atrophy, Dysmetria, Loss of ambulation, Spastic gait, Ventric...	OMIM:616680
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Abnormality of the spleen, Anorectal anomaly, Abnormality of the ureter...	ORPHA:1834
Holoprosencephaly 14	Ventriculomegaly, Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydro...	OMIM:619895
Fanconi Anemia, Complementation Group B	Death in infancy, Ventriculomegaly, Aplastic anemia, Ventricular septal defect, Esophageal atresi...	OMIM:300514
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Skin rash, Myocarditis, Asthma, Respiratory...	ORPHA:183
Galloway-Mowat Syndrome 2, X-Linked	Cerebellar atrophy, Short stature, Minimal change glomerulonephritis, Micrognathia, Cerebral atro...	OMIM:301006
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Micrognathia, Delayed eruption of permanent teeth, Short distal phalanx of toe,...	OMIM:619356
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Cholestasis, Hepatic fibros...	OMIM:615630
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Cerebellar atrophy, Microcephaly, Inability to walk, Cerebral atrophy, Ventriculomegaly	OMIM:614254
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Short nose, Anteverted nares, Hypospadias	ORPHA:1355
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Central Neurocytoma	Abnormal lateral ventricle morphology, Tinnitus, Hydrocephalus, Ataxia	ORPHA:73256
Aortic Aneurysm, Familial Thoracic 6	Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis...	OMIM:611788
Martsolf Syndrome 2	Short stature, Microcephaly, Lateral ventricle dilatation, Brain atrophy, Macrotia	OMIM:619420
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu...	ORPHA:99094
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Microcephaly, Inability to walk, Hydrocephalus, Cerebellar hypoplas...	OMIM:613155
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cerebellar atrophy, Delayed eruption of teeth, Apnea, Cerebral atrophy, Macrotia, Ventriculomegaly	OMIM:619797
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Ataxia	OMIM:616187
Teebi Hypertelorism Syndrome 1	Natal tooth, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Micrognathia, S...	OMIM:145420
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Anteverted nares, Hypospadias, Rhizomelia, Micrognathia, Hemolytic-uremic sy...	OMIM:611209
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Diffuse cerebral atrophy, Inability to walk, Difficulty walking, Delayed mena...	ORPHA:330050
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Delayed eruption of teeth, Diffuse cerebral atrophy, Microcephaly, Micrognath...	OMIM:214150
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Abnormal cerebellum morphology, Unsteady gait, Cerebral atrophy, Gait...	ORPHA:98762
Microphthalmia-Brain Atrophy Syndrome	Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Lateral ventricle dilatation, Ab...	ORPHA:77299
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology	ORPHA:1110
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coar...	OMIM:616564
Congenital Myopathy 19	Respiratory insufficiency due to muscle weakness, Renal atrophy, Respiratory insufficiency, High ...	OMIM:618578
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Pyloric steno...	OMIM:218350
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Progressive cerebellar ataxia, Hearing impairment, Increased CSF lactate	ORPHA:139485
Pseudoaminopterin Syndrome	Asplenia, Cryptorchidism, Hydrocephalus, High palate, Patent foramen ovale	ORPHA:221120
Bresek Syndrome	Vesicoureteral reflux, Hypoplasia of the bladder, Renal dysplasia, Renal hypoplasia	ORPHA:85284
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Duodenal atresia, Abnormal aortic morphology, Abnormal tricuspid valve...	ORPHA:3405
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion	Abnormal circulating calcium concentration	ORPHA:140286
Mucopolysaccharidosis Type 1	Sinusitis, Short stature, Apnea, Hydrocephalus, Sensorineural hearing impairment, Macrocephaly, C...	ORPHA:579
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Broad nasal tip, Enuresis, Malar flattening, Short nose, Retrognathia	OMIM:613670
Mosaic Trisomy 1	Microretrognathia, Ventricular septal defect, Depressed nasal bridge, Congenital diaphragmatic he...	ORPHA:1692
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Pontocerebellar atrophy, Dysdiadochokinesis	ORPHA:423275
Periventricular Nodular Heterotopia 8	Cerebellar vermis atrophy	OMIM:618185
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Megaloblastic anemia, Stroke, Atrial septal defect, Thrombocytopenia	ORPHA:49827
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Narrow nasal bridge, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Su...	OMIM:300967
Familial Hyperaldosteronism Type Iii	Left ventricular hypertrophy, Hypercalciuria, Epistaxis, Intracranial hemorrhage	ORPHA:251274
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Recurrent respiratory infections, Scapular winging, Internal carotid arter...	OMIM:150230
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Apnea, Renal cyst	OMIM:614883
Stt3B-Cdg	Respiratory distress, Intrauterine growth retardation, Cerebellar atrophy, Microcephaly	ORPHA:370924
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Broad nasal tip, Recurrent upper respiratory tract infections, Flexion con...	ORPHA:391372
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr...	OMIM:280000
Congenital Disorder Of Glycosylation, Type Iih	Cerebellar atrophy, Ataxia, Micrognathia, Microcephaly, Interface hepatitis, Ventriculomegaly	OMIM:611182
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defe...	OMIM:616898
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Intrauterine growth retardation, Microcephaly	ORPHA:26792
Coffin-Siris Syndrome 4	Narrow nasal bridge, Wide nose, Depressed nasal bridge, Anteverted nares, Ventricular septal defe...	OMIM:614609
Cat-Eye Syndrome	Anal atresia, Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:195
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia	ORPHA:172
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Patent ductus arteriosus...	OMIM:300048
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen...	OMIM:619313
Carpenter Syndrome 2	Depressed nasal bridge, Anteverted nares, Dextrocardia, Situs inversus totalis, Carious teeth, Pa...	OMIM:614976
Distal Duplication 6P	Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia	ORPHA:1745
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Left ventricular hypertrop...	OMIM:615474
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:605809
Arboleda-Tham Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula...	OMIM:616268
X-Linked Intellectual Disability, Nascimento Type	Recurrent respiratory infections, Ventricular septal defect, Cryptorchidism, Patent ductus arteri...	ORPHA:163956
Spinocerebellar Ataxia 18	Cerebellar atrophy, Dysdiadochokinesis, Dysmetria, Progressive gait ataxia	OMIM:607458
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Wide nose, Depressed nasal bridge, Anteverted nares, Micromelia, Cardiomegaly, Tachypnea, Short r...	OMIM:613320
Immunodeficiency 102	Recurrent skin infections, Recurrent upper respiratory tract infections, Bronchiectasis, Recurren...	OMIM:301082
Congenital Heart Defects And Skeletal Malformations Syndrome	Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Repeated pneumothoraces,...	OMIM:617602
Congenital Disorder Of Glycosylation, Type Iiz	Diffuse cerebellar atrophy	OMIM:620201
Ring Chromosome 7 Syndrome	Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Hypospadias, Situs inversus tota...	ORPHA:1449
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Macrocephaly at birth, Occipital encephalocele, Hydrocephalus, Cerebellar malformation, Ventricul...	ORPHA:324416
Spastic Ataxia 3, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Loss of ambulation, Cerebral ...	OMIM:611390
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Cerebellar atrophy, Neonatal respiratory distress, Ataxia, Microcephaly, Micrognathia, Respirator...	OMIM:618356
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Thr...	ORPHA:398124
Developmental And Epileptic Encephalopathy 44	Cerebellar atrophy, Short stature, Cerebral atrophy, Athetosis, Secondary microcephaly	OMIM:617132
Charge Syndrome	Aortic arch aneurysm, Aqueductal stenosis, Cryptorchidism, Patent ductus arteriosus, Abnormal sof...	ORPHA:138
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Conductive hearing impairment, Hydrocephalus, Respiratory insufficienc...	ORPHA:93262
Childhood-Onset Spasticity With Hyperglycinemia	Left ventricular hypertrophy	ORPHA:401866
Hamamy Syndrome	Atrial septal defect, Complete atrioventricular canal defect	OMIM:611174
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Intrauterine growth retardation, Cerebellar atrophy, Microcephaly	OMIM:615597
Mmep Syndrome	Cryptorchidism, Ventricular septal defect	ORPHA:3434
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1248
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly, Spastic gait, Cerebellar hypoplasia, Difficulty walking	ORPHA:401815
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Cerebellar atrophy, Mandibular prognathia, Ataxia, Protruding ear, Gait disturbance	ORPHA:85317
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, ...	OMIM:611134
Progressive Myoclonic Epilepsy With Dystonia	Diffuse cerebral atrophy, Diffuse cerebellar atrophy, Recurrent upper respiratory tract infection...	ORPHA:352596
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Steppage gait	OMIM:618387
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Malaria	Respiratory distress, Gait imbalance	ORPHA:673
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Cerebellar vermis hypoplasia, Abnormal pinna morphology, Micrognathia, Respiratory...	OMIM:618291
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Cerebellar atrophy, Prominent antitragus, Ataxia	OMIM:618879
X-Linked Lissencephaly With Abnormal Genitalia	Death in infancy, Ventricular septal defect, Aganglionic megacolon, Malabsorption, Cryptorchidism...	ORPHA:452
Severe Intellectual Disability And Progressive Spastic Paraplegia	Cerebellar atrophy, Waddling gait, Short stature, Microcephaly, Difficulty walking, Cerebral cort...	ORPHA:280763
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Mitochondrial Myopathy And Sideroblastic Anemia	Micrognathia, Generalized limb muscle atrophy, Myopathy, High palate, Short nose	ORPHA:2598
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Aganglionic megacolo...	ORPHA:2473
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Abnormal renal morphology, Vesicoureteral reflux, Renal hypoplasia, Ho...	OMIM:609053
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Short stature, Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Hydrocephalus, Sen...	OMIM:109120
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Spontaneous pneumothorax, Renal cyst	OMIM:135150
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp...	OMIM:620135
Developmental And Epileptic Encephalopathy 30	Respiratory distress	OMIM:616341
Spinocerebellar Ataxia, Autosomal Recessive 10	Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Truncal ataxia	OMIM:613728
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Ataxia, Respiratory failure, Progressive hearing impairment, Loss of ambula...	OMIM:620166
Williams-Beuren Region Duplication Syndrome	Cerebellar vermis hypoplasia, Short stature, Micrognathia, Hydrocephalus, Gait disturbance, Macro...	OMIM:609757
Neu-Laxova Syndrome 1	Ventriculomegaly, Ventricular septal defect, Spina bifida, Cryptorchidism, Patent ductus arterios...	OMIM:256520
Macdermot-Winter Syndrome	Hydronephrosis	OMIM:247990
Ogden Syndrome	Microretrognathia, Torticollis, Ventricular septal defect, Underdeveloped nasal alae, High, narro...	ORPHA:276432
Diaphanospondylodysostosis	Respiratory distress, Multiple renal cysts	ORPHA:66637
Mucopolysaccharidosis, Type X	Thickened aortic valve cusp, Nephrolithiasis, Wide nasal bridge, Dermatan sulfate excretion in ur...	OMIM:619698
Spinocerebellar Ataxia 12	Cerebellar atrophy, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Cerebral cortic...	OMIM:604326
Timothy Syndrome	Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Pulmona...	OMIM:601005
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Alobar holoprosencephaly, Patent ductus arteriosus, Submucous cleft ha...	OMIM:301043
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Dental malocclusion, Short columella, Short nose, Short distal phalanx of...	OMIM:155050
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst	OMIM:617056
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Cleft palate	OMIM:601355
Alexander Disease Type I	Cerebellar atrophy, Hydrocephalus, Progressive macrocephaly, Ataxia	ORPHA:363717
Emanuel Syndrome	Recurrent respiratory infections, Ventriculomegaly, Truncus arteriosus, Ventricular septal defect...	OMIM:609029
Autosomal Recessive Spastic Paraplegia Type 46	Cerebellar atrophy, Broad-based gait, Ataxia, Corpus callosum atrophy, Cerebral atrophy, Difficul...	ORPHA:320391
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea...	OMIM:191800
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Cerebellar atrophy, Ataxia, Hearing impairment, Athetosis, Atrophy/Degeneration affecting the bra...	OMIM:271245
X-Linked Intellectual Disability, Hedera Type	Left ventricular hypertrophy, Hypomimic face	ORPHA:93952
Fabry Disease	Renal insufficiency, Transient ischemic attack, Proteinuria, Ventricular septal hypertrophy, Urin...	OMIM:301500
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Spinocerebellar Ataxia 44	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Tinnitus	OMIM:617691
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Cerebellar atrophy, Microcephaly, Corpus callosum atrophy, Brain atrophy, Intrauterine growth ret...	ORPHA:369939
Birk-Landau-Perez Syndrome	Neonatal respiratory distress, Stage 3 chronic kidney disease, Renal insufficiency, Renal hypopla...	OMIM:617595
Hallermann-Streiff Syndrome	Abdominal situs inversus	ORPHA:2108
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect, Anal atresia	ORPHA:3469
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Protruding tongue, Cryptorchidism, Patent ductus arteriosus, Hydroceph...	OMIM:612938
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, High, narrow palate, Patent ductus arteriosus, Dysplastic tricuspid valve, ...	OMIM:612863
Lambert Syndrome	Jaundice, Intrahepatic biliary atresia, Ventricular septal defect, Cholestasis	ORPHA:1296
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Depressed nasal bridge, Anteverted nares, Apnea, Micrognat...	ORPHA:314655
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa...	OMIM:614921
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Mitochondrial Complex I Deficiency, Nuclear Type 26	Cerebellar atrophy, Cerebral atrophy, Respiratory insufficiency, Choreoathetosis, Hearing impairment	OMIM:618247
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Absent toe, Esophageal varix, A...	ORPHA:974
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Cerebellar vermis hypoplasia, Ataxia...	ORPHA:98
Adams-Oliver Syndrome 2	Microcephaly, Micrognathia, Hydrocephalus, Cerebral atrophy, Protruding ear, Retrocerebellar cyst...	OMIM:614219
Microcephaly 20, Primary, Autosomal Recessive	Ureteral agenesis, Hyperechogenic kidneys, Bilateral renal agenesis, Renal hypoplasia	OMIM:617914
Spinocerebellar Ataxia 49	Cerebellar atrophy, Ataxia, Unsteady gait, Dysmetria, Dysdiadochokinesis, Loss of ambulation	OMIM:619806
20Q13.33 Microdeletion Syndrome	Atrial septal defect, Dilation of Virchow-Robin spaces, Hypoplastic aortic arch, Abnormal cardiac...	ORPHA:261311
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Patent ductus arteriosus, Atri...	OMIM:618652
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Severe short stature, Lymphocytic interstitial pneumonia	OMIM:245590
Arterial Tortuosity Syndrome	Respiratory distress, Gastroesophageal reflux, Hiatus hernia, Pulmonary artery stenosis, Dilated ...	ORPHA:3342
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Hiatus hernia, Patent ductus arteriosus, Recurrent pneumonia, Recurren...	OMIM:619769
Chime Syndrome	Ventricular septal defect, Tetralogy of Fallot, Cleft palate, Acute leukemia, Transposition of th...	ORPHA:3474
Bacterial Toxic-Shock Syndrome	Respiratory distress, Pharyngitis, Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin...	ORPHA:36234
Catel-Manzke Syndrome	Short humerus, Short metacarpal, Overriding aorta, Ventricular septal defect, Dextrocardia, Short...	OMIM:616145
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Cerebellar atrophy, Cerebral atrophy, Increased CSF lactate, Inspiratory st...	OMIM:604377
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Vesicoureteral reflux, Renal hypoplasia, Hypoplastic left heart, Aortic valve stenosis, Atrial se...	OMIM:617660
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,...	OMIM:231005
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Neonatal respiratory distress, Micrognathia, Secondary microcephaly, Cerebe...	OMIM:615042
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Akinesia, Microcephaly, Micrognathia, Hydrocephalus, Cerebellar hypoplasia, Hyd...	OMIM:225790
Craniosynostosis 6	Cerebellar atrophy, Microcephaly, Sensorineural hearing impairment, Lateral ventricle dilatation,...	OMIM:616602
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Spinocerebellar Ataxia 46	Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia	OMIM:617770
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Cerebellar atrophy, Scissor gait, Cerebral atrophy, Loss of ambulation, Progressive microcephaly	ORPHA:521406
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac...	ORPHA:264675
Contractures-Developmental Delay-Pierre Robin Syndrome	Hypospadias, Underdeveloped nasal alae, Micrognathia, Short thumb, High, narrow palate, Cleft pal...	ORPHA:436003
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia, Mitral valve prolapse	OMIM:173900
Perching Syndrome	Respiratory distress	OMIM:617055
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Recur...	ORPHA:500159
Beaulieu-Boycott-Innes Syndrome	Ventricular septal defect, Unilateral renal agenesis, Micrognathia, Long nose, Carious teeth, Pat...	OMIM:613680
Spastic Paraplegia 7, Autosomal Recessive	Cerebellar atrophy, Waddling gait, Spastic ataxia, Degeneration of the lateral corticospinal trac...	OMIM:607259
Leukodystrophy, Hypomyelinating, 15	Cerebellar atrophy, Severe short stature, Ataxia, Microcephaly, Sensorineural hearing impairment,...	OMIM:617951
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Hydrocephalus, Cardiomegaly	OMIM:300886
Coronary Arterial Fistula	Orthopnea, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Tachypnea, Coronary art...	ORPHA:2041
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Otitis media, Recurrent vulvovag...	ORPHA:331235
Grange Syndrome	Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis	ORPHA:79094
Odontochondrodysplasia	Delayed eruption of teeth, Respiratory distress, Depressed nasal bridge, Micromelia, Patent ductu...	ORPHA:166272
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Stroke, Renal sodium ...	ORPHA:320
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Ataxia, Microcephaly, Unsteady gait, Gait disturbance, Aplasia/Hypoplasia of ...	ORPHA:2585
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Complete atrioventricular canal defect, Tetralogy of Fallot	OMIM:617925
Developmental And Epileptic Encephalopathy 98	Cerebellar atrophy, Secondary microcephaly, Cerebral atrophy	OMIM:619605
Arterial Tortuosity Syndrome	Ventricular hypertrophy, Carotid artery dissection, Congenital diaphragmatic hernia, Micrognathia...	OMIM:208050
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, Patent ductus arteriosus, Narrow palate, Cleft palate, T lymphocytopenia, ...	OMIM:618223
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Broad-based gait, Ataxia, Crackles, Asthma, ...	OMIM:610978
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricul...	OMIM:617201
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Vesicoureteral reflux, Renal hypoplasia	ORPHA:464288
Cleidocranial Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Short stature, Abnormal dental ename...	ORPHA:1452
Atelis Syndrome 1	Ventricular septal defect, Thrombocytopenia, Bronchiectasis, Leukopenia, High palate, Atrial sept...	OMIM:620184
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Ataxia, Dyspnea, Abnorm...	OMIM:211530
Mast Syndrome	Cerebellar atrophy, Cerebral atrophy, Athetosis, Dysdiadochokinesis, Gait disturbance	OMIM:248900
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Inability to...	ORPHA:596
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency	OMIM:614399
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Spastic Paraplegia 30, Autosomal Dominant	Cerebellar atrophy, Ataxia, Spastic gait, Dysmetria	OMIM:610357
Riddle Syndrome	Short stature, Pneumonia, Ataxia, Microcephaly, Neonatal asphyxia, Recurrent pneumonia, Restricti...	ORPHA:420741
Craniosynostosis, Herrmann-Opitz Type	Micromelia, Micrognathia, Abnormality of the urethra, Cleft palate, Aplasia/Hypoplasia of the lun...	ORPHA:2145
Autosomal Recessive Progressive External Ophthalmoplegia	Cerebellar atrophy, Ataxia, Abnormal cerebrospinal fluid morphology, Cerebral atrophy, Optic neur...	ORPHA:254886
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Microretrognathia, 11 pairs of ribs, Bicuspid aortic valve, Depressed nasal bridge, Congenital di...	OMIM:245600
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Short stature, Micrognathia, Hydrocephalus, Low-set ears, Macrocephaly	ORPHA:1516
Tularemia	Respiratory distress, Pharyngitis, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngea...	ORPHA:3392
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A...	ORPHA:887
Orthostatic Hypotension 1	Hypomagnesemia, Increased blood urea nitrogen	OMIM:223360
Autosomal Recessive Amelia	Hypoplasia of penis, Micrognathia, Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morph...	ORPHA:1027
Cardiomyopathy, Dilated, 1D	Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:601494
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Anteverted nares, Pneumonia, Recurrent upper respiratory tract infections...	OMIM:614069
Bone Dysplasia, Lethal Holmgren Type	Recurrent respiratory infections, Hepatomegaly, Patent ductus arteriosus, Respiratory insufficien...	ORPHA:1842
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Cerebellar atrophy, Ataxia, Cerebral cortical atrophy, Difficulty walking	OMIM:619425
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Microcephaly, Hypoplasia of the pons, Micrognathia, Hydrocephalus, Hypopla...	OMIM:620157
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Patent ductus arteriosus, Respiratory failure, Pulmonary hypoplasi...	OMIM:616867
Felty Syndrome	Episcleritis, Pericarditis, Sinusitis, Recurrent pharyngitis, Recurrent pneumonia, Synovitis, Art...	ORPHA:47612
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Ataxia, Cerebral atrophy, Dysmetria, Loss of ambulation	OMIM:617916
Cirrhotic Cardiomyopathy	Hepatomegaly, Pulmonary edema, Left atrial enlargement, Cardiomegaly, Elevated pulmonary artery p...	ORPHA:57777
Spinocerebellar Ataxia 29	Broad-based gait, Cerebellar vermis hypoplasia, Dysmetria, Gait ataxia, Impaired tandem gait, Lim...	OMIM:117360
Joubert Syndrome 3	Central apnea, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Ataxia, Episodic t...	OMIM:608629
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia	OMIM:241500
Spinocerebellar Ataxia 14	Cerebellar atrophy, Progressive cerebellar ataxia, Dysmetria, Gait ataxia	OMIM:605361
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Prominent nasal bridge, Intestinal malrotation, Bifid nasal tip, Short...	ORPHA:2712
Laryngomalacia	Respiratory distress, Laryngomalacia, Congenital laryngeal stridor	OMIM:150280
Congenital Laryngeal Web	Respiratory distress, Stridor, Short stature, Laryngomalacia	ORPHA:2374
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Developmental And Epileptic Encephalopathy 65	Cerebellar atrophy, Cerebral atrophy, Ventriculomegaly, Microcephaly	OMIM:618008
Perrault Syndrome 1	Cerebellar atrophy, Short stature, Ataxia, Sensorineural hearing impairment, Gait ataxia	OMIM:233400
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Pontocerebellar Hypoplasia, Type 1B	Cerebellar atrophy, Cerebral atrophy, Respiratory insufficiency, Growth delay, Progressive microc...	OMIM:614678
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Cerebellar atrophy, Ataxia, Tachypnea, Cerebral atrophy, Increased CSF lactate, Respiratory failu...	OMIM:615838
Rhiny	Short nose, Anteverted nares	OMIM:180360
Ataxia-Telangiectasia-Like Disorder	Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis hypoplasia, Short stature, Ataxia...	ORPHA:251347
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus	OMIM:615599
Developmental And Epileptic Encephalopathy 37	Cerebellar atrophy, Gait disturbance, Choreoathetosis, Cerebral atrophy	OMIM:616981
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Atrial septal defect	ORPHA:52056
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Cerebellar atrophy, Ataxia, CSF pleocytosis, Dysmetria, Increased CSF lactate	OMIM:618384
Perlman Syndrome	Hepatomegaly, Hypoplasia of penis, Anteverted nares, Micrognathia, High, narrow palate, Wide nasa...	ORPHA:2849
Pontocerebellar Hypoplasia, Type 13	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Inability to walk, Asthma, Ov...	OMIM:618606
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Apnea, Cardiomegaly, High palate, Macrovesicular hepatic steatosis, Antenat...	OMIM:608836
Cyclic Neutropenia	Pharyngitis, Sinusitis, Recurrent skin infections, Perianal abscess, Peritonitis, Enterocolitis, ...	ORPHA:2686
Spinocerebellar Ataxia, Autosomal Recessive 8	Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Hearing impairment	OMIM:610743
Lessel-Kreienkamp Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ...	OMIM:619149
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia	ORPHA:2494
Spinocerebellar Ataxia, Autosomal Recessive 18	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Cerebella...	OMIM:616204
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Dilated fourth ventricle, Ataxia, Increased CSF lactate, Choreoathetosis, Cerebellar vermis atrophy	OMIM:619054
Joubert Syndrome With Renal Defect	Encephalocele, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Apnea, Ataxia, Hy...	ORPHA:220497
Aase-Smith Syndrome I	Death in infancy, Ventricular septal defect, Hydrocephalus, Cleft palate, Dandy-Walker malformation	OMIM:147800
Kawasaki Disease	Glossitis, Pericarditis, Abnormal heart valve morphology, Myocarditis, Recurrent pharyngitis, Vas...	ORPHA:2331
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Cerebellar atrophy, Spastic ataxia, Abnormal cerebellum morphology, Unsteady gait, Cerebral atrop...	ORPHA:137898
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Pituitary Gigantism	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Mandibular prognathia	ORPHA:99725
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Pneumonia, Allergic rhini...	ORPHA:183675
Cardiac Valvular Dysplasia 2	Bicuspid aortic valve, Ascending tubular aorta aneurysm, Pulmonic stenosis, Subvalvular aortic st...	OMIM:620067
Hamel Cerebro-Palato-Cardiac Syndrome	Micrognathia, Bulbous nose, Wide nasal bridge, Cleft palate, Atrial septal defect, Malar flattening	ORPHA:93946
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebellar atrophy, Cerebral atrophy, Impaired tandem gait, Gait disturbance, Falls	OMIM:300423
Harel-Yoon Syndrome	Mandibular prognathia, Micrognathia, Distal amyotrophy, Hypertrophic cardiomyopathy, Short nose	OMIM:617183
Desmoid Tumor	Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Abnormality of the upp...	ORPHA:873
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome	Cerebellar atrophy, Short stature, Atrophy of the spinal cord, Cerebral atrophy, Gait ataxia, Bil...	ORPHA:445062
Ciliary Dyskinesia, Primary, 41	Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis	OMIM:618449
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Gait ataxia, Increased CSF lactate	OMIM:612075
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation, Cerebral cortical atrophy, Respiratory insufficiency, Microcephaly	OMIM:617668
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Cryptorchidism, Patent ductus arteriosus, Tachypnea, Coarctation of aorta, Normochromic anemia, N...	OMIM:614857
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th...	OMIM:137920
Triploidy	Hepatomegaly, Intestinal malrotation, Cryptorchidism, Abnormality of the pancreas, Abnormality of...	ORPHA:3376
Pgm3-Cdg	Mild neurosensory hearing impairment, Membranoproliferative glomerulonephritis, Short stature, Al...	ORPHA:443811
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Cerebellar atrophy, Mandibular prognathia, Ataxia, Unsteady gait, Protruding ear	OMIM:300861
Prune Belly Syndrome	Hydroureter, Patent ductus arteriosus, Xerostomia, Congenital posterior urethral valve, Hydroneph...	OMIM:100100
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Myopathy, Nephrotic syndrome, Left ventricular hypert...	OMIM:617713
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Ataxia, Inability to walk, Cerebral atrophy, Secondary microcephaly, Neurodeg...	OMIM:617672
Spinocerebellar Ataxia, Autosomal Recessive 20	Relative macrocephaly, Cerebellar atrophy, Delayed eruption of teeth, Ataxia, Inability to walk, ...	OMIM:616354
Chiari Malformation Type Ii	Ataxia, Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Chiari malformation, ...	OMIM:207950
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion	ORPHA:50251
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis ...	ORPHA:300573
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Hy...	OMIM:217980
Gordon Holmes Syndrome	Cerebellar atrophy, Ataxia, Cerebral atrophy	OMIM:212840
Crouzon Syndrome	Hypoplasia of the maxilla, Hydrocephalus, Respiratory insufficiency, Chiari malformation, Conjunc...	ORPHA:207
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly	OMIM:614830
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla...	ORPHA:84081
Gaucher Disease Type 2	Respiratory distress, Abnormal pattern of respiration, Cough	ORPHA:77260
22Q11.2 Deletion Syndrome	Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of the thymus, Atrial septal ...	ORPHA:567
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Ventricular septal defect, Hepatic cysts, Renal cyst	OMIM:263630
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Hypophosphatemia	OMIM:239200
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Micrognathia, Microcephaly, Intrauterine growth retardation, Macrotia	ORPHA:261304
Recombinant 8 Syndrome	Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Mic...	ORPHA:96167
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Cerebellar atrophy, Microcephaly, Choreoathetosis, Aspiration pneumonia, Nonprogressive cerebella...	ORPHA:431361
Distal Deletion 15Q	Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri...	ORPHA:1596
Tetrasomy 9P	Absent gallbladder, Juxtaductal coarctation of the aorta, Pericarditis, Dextrocardia, Cryptorchid...	ORPHA:3310
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Cerebellar atrophy, Tip-toe gait, Cerebral atrophy	ORPHA:496689
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea...	ORPHA:1303
8Q24.3 Microdeletion Syndrome	Respiratory distress, Ventricular septal defect, Complete atrioventricular canal defect, Patent d...	ORPHA:508488
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Hydroureter, Ventricular septal defect, Depressed na...	ORPHA:1458
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Short nose, Cleft palate, Mitral valve prolapse	ORPHA:90653
Combined Oxidative Phosphorylation Deficiency 9	Hepatic steatosis, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, D...	OMIM:614582
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Narrow nasal bridge, Ventricular septal defect, Prominent nasal bridge, Prominent nose, High, nar...	ORPHA:466791
Lethal Congenital Contracture Syndrome 2	Respiratory failure, Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis	OMIM:607598
Glutamine Deficiency, Congenital	Neonatal respiratory distress, Apnea, Decreased CSF glutamine concentration, Subependymal cysts, ...	OMIM:610015
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Ventricular septal defect, Anteverted nares, Choanal atresia, Micrognathia,...	OMIM:610536
6P22 Microdeletion Syndrome	Patent ductus arteriosus, Hydronephrosis	ORPHA:251046
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Patent ductus arteriosus, Wide nasal bridge, Nephrocalcinosis, Joint contracture, Limb undergrowt...	OMIM:618005
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Short stature, Ataxia, Respiratory failure, Conductive hearing impai...	ORPHA:1861
Spinocerebellar Ataxia, Autosomal Recessive 27	Cerebellar atrophy, Spastic ataxia, Gait ataxia, Gait disturbance, Gait imbalance, Cerebral corti...	OMIM:618369
Hypomandibular Faciocranial Dysostosis	Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Aglossia, Choanal stenosis, At...	OMIM:241310
Coach Syndrome 2	Cerebellar vermis hypoplasia, Hydrocephalus, Apneic episodes in infancy, Agenesis of corpus callosum	OMIM:619111
Succinic Acidemia	Respiratory distress	OMIM:600335
Noonan Syndrome 11	Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:618499
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Renal hypoplasia	OMIM:616817
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Cerebellar atrophy, Short stature, Ataxia, Laryngotracheomalacia, Ventriculomegaly, Hearing impai...	OMIM:618547
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Hepatomegaly, Recurrent respiratory infections, Respiratory distress, Anteve...	OMIM:619383
Spinocerebellar Ataxia 19	Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Truncal ataxia	OMIM:607346
Faciocardiomelic Syndrome	Common atrium	OMIM:612731
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Cerebellar atrophy, Natal tooth, Microcephaly, Micrognathia, Inability to walk, Cerebral atrophy,...	OMIM:617802
Ciliary Dyskinesia, Primary, 42	Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat...	OMIM:618695
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Death in infancy, Endocardial fibroelastosis	OMIM:600559
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ...	OMIM:617021
Meckel Syndrome 12	Ureteral hypoplasia, Bilateral renal agenesis, Renal hypoplasia	OMIM:616258
Complement Component 4B Deficiency	Chronic active hepatitis, Asthma, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media	OMIM:614379
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Cardiomyopathy	OMIM:102200
Meier-Gorlin Syndrome 7	Atrial septal defect, Complete atrioventricular canal defect, Ventricular septal defect	OMIM:617063
Brain Malformations With Or Without Urinary Tract Defects	Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis	OMIM:613735
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Cerebellar atrophy, Rhizomelia, Ataxia, Microcephaly, Micrognathia, Trismus...	OMIM:616271
Biemond Syndrome Ii	Hydrocephalus, Short stature	OMIM:210350
Pallister-Hall-Like Syndrome	Depressed nasal bridge, Micromelia, Micrognathia, Microglossia, Cleft palate, Micropenis, Pulmona...	OMIM:241800
Cog5-Cdg	Cerebellar atrophy, Diffuse cerebral atrophy, Short stature, Posteriorly rotated ears, Microcepha...	ORPHA:263487
Multifocal Atrial Tachycardia	Ventricular septal defect, Dyspnea, Cryptorchidism, Tachypnea, Pulmonic stenosis, Atrial septal d...	ORPHA:3282
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy	OMIM:614229
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Cerebellar atrophy, Broad-based gait, Limb ataxia, Dysmetria, Progressive cerebellar ataxia, Prog...	ORPHA:284324
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Hydrocephalus, Disproporti...	OMIM:616482
Dworschak-Punetha Neurodevelopmental Syndrome	Vesicoureteral reflux, Unilateral renal hypoplasia	OMIM:619955
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Mass Syndrome	Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse	OMIM:604308
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous candidiasis, Gait ataxia, Scleros...	ORPHA:572
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Falls	ORPHA:240085
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Atrial septal defect, Recurrent lower respiratory tract infections, Bicuspid aortic valve	OMIM:617744
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Patent foramen ovale, Renal hypoplasia, Pulmonic stenosis	OMIM:618914
Tenorio Syndrome	Mandibular prognathia, Apnea, Hydrocephalus, Recurrent pneumonia, Keratoconjunctivitis sicca, Gai...	OMIM:616260
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal dysplasia, Renal insufficiency, Hypoplasia of penis, Renal hypoplasia	ORPHA:85321
Aortic Aneurysm, Familial Thoracic 9	Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse	OMIM:616166
Emanuel Syndrome	Recurrent respiratory infections, Ventriculomegaly, Truncus arteriosus, Ventricular septal defect...	ORPHA:96170
Pontocerebellar Hypoplasia, Type 1D	Cerebellar atrophy, Microcephaly, Cerebral atrophy, Respiratory insufficiency, Low-set ears, Intr...	OMIM:618065
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Cerebellar atrophy, Broad-based gait, Ataxia, Sensorineural hearing impairment, Dysmetria	OMIM:618098
Joubert Syndrome 18	Ventricular septal defect, Renal cyst, Horseshoe kidney	OMIM:614815
Spinocerebellar Ataxia Type 29	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar vermis atrophy	ORPHA:208513
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Cerebellar atrophy, Microcephaly, Inability to walk, Protruding ear, Macrotia, Cerebral cortical ...	OMIM:617481
Neurofibromatosis-Noonan Syndrome	Secundum atrial septal defect, Cryptorchidism, Pulmonic stenosis	OMIM:601321
Formiminoglutamic Aciduria	Atrial septal defect, Anemia, Megaloblastic anemia	ORPHA:51208
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Inability to walk, Dysmetria, Gait ataxia, Cerebellar hypoplasia	OMIM:617810
Bardet-Biedl Syndrome 2	Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve	OMIM:615981
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy	Cerebellar atrophy, Ataxia	OMIM:617207
Episodic Ataxia Type 1	Respiratory distress, Cerebellar atrophy, Choreoathetosis, Tip-toe gait	ORPHA:37612
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, High palate, Atrial...	OMIM:618142
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Apnea, Ascending aorta hypoplasia, High palate, Aspiration, Hepatic steatosis, Hemolytic anemia, ...	OMIM:619503
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea, Recurrent upper respiratory tract infections, Respiratory failur...	OMIM:263000
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Dysmetria, Progressive cereb...	ORPHA:98755
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, High palate, Atrial septal de...	OMIM:612582
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Unsteady gait, Cerebr...	ORPHA:79263
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal defect	OMIM:126320
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Pulmonary arterial hy...	ORPHA:70588
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Ataxia, Dysmetria, Impaired tandem gait	OMIM:619028
Transketolase Deficiency	Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu...	ORPHA:488618
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Cholelithiasis	OMIM:240300
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Anemia	ORPHA:163596
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Cerebellar atrophy, Ataxia, Vestibular areflexia, Limb ataxia, Gait ataxia, Cough, Cerebellar ver...	OMIM:614575
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P...	ORPHA:1302
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	OMIM:618440
Say Syndrome	Proximal renal tubular acidosis, Cystic renal dysplasia	OMIM:181180
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Spina bifida, Anencephaly, Cleft palate, Ectopic anus, Hypoplastic lef...	ORPHA:2476
Urofacial Syndrome 1	Recurrent urinary tract infections, Urethral valve, Hydroureter, Urethral obstruction, Enuresis, ...	OMIM:236730
Mucopolysaccharidosis Type 6	Sinusitis, Recurrent upper respiratory tract infections, Disproportionate short-trunk short statu...	ORPHA:583
Leopard Syndrome 1	Complete atrioventricular canal defect, Mitral valve prolapse, Pulmonic stenosis, Subvalvular aor...	OMIM:151100
Rabin-Pappas Syndrome	Mandibular prognathia, Hypoventilation, Microcephaly, Hypoplasia of the pons, Conductive hearing ...	OMIM:620155
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex...	OMIM:601346
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn...	ORPHA:139507
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Short nose, Flexion contracture	OMIM:618379
Donnai-Barrow Syndrome	Ventricular septal defect, Depressed nasal bridge, Congenital diaphragmatic hernia, Proteinuria, ...	ORPHA:2143
Peroxisome Biogenesis Disorder 8B	Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Unsteady gait, Dysmetria, Gait ataxia, Tip-t...	OMIM:614877
Immunodeficiency 32B	Pneumonia, Sinusitis, Bronchiectasis	OMIM:226990
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Patent ductus arteriosus...	OMIM:618961
Greig Cephalopolysyndactyly Syndrome	Cryptorchidism, Hydrocephalus, Ventriculomegaly, Abnormal heart morphology	OMIM:175700
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus, Bicuspid aortic valve	ORPHA:397951
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism	ORPHA:745
Meckel Syndrome, Type 8	Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Hypospadias, Absent pulmonary artery, Patent ductus arteriosus, Cleft ...	OMIM:600460
Congenital Sialidosis Type 2	Hepatomegaly, Protruding tongue, Respiratory tract infection, Hydrocephalus, Hepatosplenomegaly, ...	ORPHA:93400
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Depressed nasal bridge, Ventricular septal defect, Micrognathia, Bulbous nose, ...	OMIM:617061
Restrictive Dermopathy	Dextrocardia, Patent ductus arteriosus, Submucous cleft hard palate, Ascending tubular aorta aneu...	ORPHA:1662
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Depressed nasal bridge, Ventricular septal defect, Bulbous nose, Wide nasa...	ORPHA:369891
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia	OMIM:602080
X-Linked Progressive Cerebellar Ataxia	Unsteady gait, Limb ataxia, Dysmetria, Progressive cerebellar ataxia, Progressive gait ataxia, Dy...	ORPHA:1175
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Patent ductus arteriosus, Frontal encephalocele, Hydrocephalus, Aortic aneurysm	ORPHA:261102
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Secundum atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Bicuspi...	OMIM:613355
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Tetralogy of Fallot, Hypospadias, Anal atresia	ORPHA:1381
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Papillary Tumor Of The Pineal Region	Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking	ORPHA:251915
Albers-Schönberg Osteopetrosis	Osteomyelitis, Short stature, Mandibular osteomyelitis, Carious teeth, Hydrocephalus, Osteoarthri...	ORPHA:53
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia...	ORPHA:2973
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a...	OMIM:613795
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Renal cyst	OMIM:611773
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Progressive microcephaly	OMIM:614741
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Ataxia, Micrognathia, Unsteady gait, Cerebral atrophy, Neurodegeneration, Neu...	OMIM:256600
X-Linked Mandibulofacial Dysostosis	Prominent nasal bridge, Micrognathia, Hypoplasia of the zygomatic bone, High palate, Pulmonic ste...	ORPHA:1131
Acrocephalopolydactyly	Limb undergrowth, Short nose, Depressed nasal ridge, Hepatosplenomegaly	ORPHA:221054
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pharyngitis, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothor...	ORPHA:36238
Acquired Aneurysmal Subarachnoid Hemorrhage	Left ventricular hypertrophy, Cerebral hemorrhage, Ischemic stroke, Abnormal cerebral artery morp...	ORPHA:90065
Lacrimal Duct Defect	Sinusitis, Conjunctivitis	OMIM:149700
Cerebellar Atrophy With Seizures And Variable Developmental Delay	Ataxia, Inability to walk, Dysmetria, Gait ataxia, Cerebellar vermis atrophy	OMIM:618501
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic...	OMIM:263200
Spinocerebellar Ataxia 17	Cerebellar atrophy, Diffuse cerebral atrophy, Broad-based gait, Ataxia, Dysmetria, Gait ataxia, L...	OMIM:607136
Fontaine Progeroid Syndrome	Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Hypoplasia of the abdominal wall musc...	OMIM:612289
Distal Deletion 12Q	Anteverted nares, Ectopic kidney, Micrognathia, High, narrow palate, Bulbous nose, Patent ductus ...	ORPHA:96149
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cerebellar atrophy, Apnea, Ataxia, Microcephaly, Inability to walk, Gait ataxia, Choreoathetosis,...	OMIM:619580
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst	OMIM:614091
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Epistaxis, Per...	ORPHA:727
Fanconi Anemia, Complementation Group W	Renal hypoplasia	OMIM:617784
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Posteriorly rotated ears, Microcephaly, Cerebellar vermis atrophy, Cerebral atrophy, Progressive ...	OMIM:615760
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Ataxia, Dysmetria, Dysdiadochokinesis, Neurodegeneration, Difficulty walking,...	OMIM:612319
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypoplastic aortic arch, Coa...	OMIM:617506
Pettigrew Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Microcephaly, Aqueductal stenosis, Hydroceph...	OMIM:304340
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Skeletal muscle atrophy, Respiratory tract infection, Hypoplasia of the maxilla, Flexion contract...	OMIM:218000
Vici Syndrome	Recurrent respiratory infections, Wide nose, Depressed nasal bridge, Micrognathia, Dilated cardio...	OMIM:242840
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm	OMIM:617349
4H Leukodystrophy	Cerebellar atrophy, Delayed eruption of teeth, Short stature, Ataxia, Dysmetria, Progressive gait...	ORPHA:289494
Edinburgh Malformation Syndrome	Death in infancy, Jaundice, Hydrocephalus	OMIM:129850
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Hypoplasi...	ORPHA:1529
Spastic Paraplegia 50, Autosomal Recessive	Cerebellar atrophy, Mandibular prognathia, Ataxia, Microcephaly, Ventriculomegaly	OMIM:612936
Holocarboxylase Synthetase Deficiency	Respiratory distress, Ataxia, Eczema, Tachypnea, Keratoconjunctivitis, Growth delay, Perioral eczema	ORPHA:79242
Neuropathy, Congenital Hypomyelinating, 3	Cerebellar atrophy, Microcephaly, Micrognathia, Respiratory insufficiency, Respiratory failure, L...	OMIM:618186
Aminoacylase 1 Deficiency	Cerebellar atrophy, Sensorineural hearing impairment, Cerebral cortical atrophy, Cerebral atrophy	OMIM:609924
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Atrial septal defect, Episodic tachypnea, Decreased liver function, Elevated hepatic transaminase	OMIM:615160
Trisomy 13	Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Abnormality of the uret...	ORPHA:3378
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Cryptorchidism, Ventricular septal defect, Hypoplastic left heart, Ventriculomegaly	ORPHA:2772
Spinocerebellar Ataxia, Autosomal Recessive 26	Cerebellar atrophy, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis	OMIM:617633
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Cryptorchidism, Patent ductus arteriosus, Hypoplastic ao...	OMIM:300166
Cardiomyopathy, Dilated, 2E	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve	OMIM:619492
Lethal Congenital Contracture Syndrome 7	Cerebellar atrophy, Cerebral atrophy, Micrognathia	OMIM:616286
Peters Plus Syndrome	Ureteral duplication, Micromelia, Micrognathia, Bicuspid pulmonary valve, Abnormal pulmonary vein...	ORPHA:709
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Anteverted nares, Carious teeth, Pulmonic stenosis, Hypertrophic cardiomyopathy, Short nose	ORPHA:2701
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Atelectasis...	OMIM:269860
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Mosaic Variegated Aneuploidy Syndrome 2	Depressed nasal bridge, Ventricular septal defect, Rhizomelia, Micrognathia, Bulbous nose, Abnorm...	OMIM:614114
Achondrogenesis	Anteverted nares, Micromelia, Micrognathia, Aplasia/Hypoplasia of the lungs, Short nose	ORPHA:932
Achondrogenesis Type 1A	Anteverted nares, Micromelia, Micrognathia, Aplasia/Hypoplasia of the lungs, Short foot, Short pa...	ORPHA:93299
Thymic Neuroendocrine Tumor	Hypercalcemia	ORPHA:97289
Pseudo-Torch Syndrome 1	Increased CSF protein concentration, Hepatomegaly, Ventriculomegaly, Elevated hepatic transaminas...	OMIM:251290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microcephaly, Respiratory insufficiency due to muscle weakness, Hydrocephalus, Sensorineural hear...	OMIM:615249
Kagami-Ogata Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Pulmonary hypopl...	OMIM:608149
Distal Duplication 18Q	Hypoplasia of penis, Anteverted nares, Camptodactyly of finger, Prominent nasal bridge, Choanal a...	ORPHA:1716
3-Methylglutaconic Aciduria, Type V	Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Cryp...	OMIM:610198
Spastic Paraplegia 46, Autosomal Recessive	Cerebellar atrophy, Cerebral atrophy, Upper limb dysmetria, Limb dysmetria, Spastic gait, Hearing...	OMIM:614409
Vitamin K Antagonist Embryofetopathy	Hydrocephalus, Myelomeningocele, Respiratory insufficiency, Microtia, Intrauterine growth retarda...	ORPHA:1914
Roifman Syndrome	Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Eosinophilia, Splenomegaly...	OMIM:616651
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Cryptorchidism, Hydrocephalus, Subvalvular aortic stenosis, Atrial sep...	OMIM:613001
Aortic Valve Disease 2	Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen...	OMIM:614823
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Anteverted nares, Micrognathia, Bulbous nose, Wide nasal bridge, Glossoptosis, High palate, Gastr...	OMIM:613604
Hypomandibular Faciocranial Dysostosis	Recurrent respiratory infections, Anteverted nares, Aplasia/Hypoplasia of the tongue, Patent duct...	ORPHA:1790
Behr Syndrome	Cerebellar atrophy, Ataxia, Unsteady gait, Dysmetria, Gait disturbance, Truncal ataxia, Cerebella...	OMIM:210000
Developmental And Epileptic Encephalopathy 47	Cerebellar atrophy, Ataxia, Inability to walk, Limb ataxia, Gait disturbance, Secondary microcephaly	OMIM:617166
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc...	OMIM:269200
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida, Macrocephaly	ORPHA:1931
Adenylosuccinate Lyase Deficiency	Short nose, Anteverted nares	ORPHA:46
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Respiratory failu...	OMIM:617666
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Craniofaciofrontodigital Syndrome	Respiratory distress, Prominent superficial veins, Anomalous branches of internal carotid artery,...	ORPHA:363705
Leukodystrophy, Hypomyelinating, 18	Cerebellar atrophy, Secondary microcephaly, Dysmetria, Atrophy/Degeneration affecting the brainstem	OMIM:618404
Mitochondrial Trifunctional Protein Deficiency	Rhabdomyolysis, Respiratory insufficiency, Cardiomyopathy, Skeletal myopathy, Respiratory failure...	ORPHA:746
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ectopic anus, Ventricular septal defect, Cleft palate	ORPHA:94066
Combined Oxidative Phosphorylation Deficiency 14	Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Cerebral atrophy, Increased CSF lacta...	OMIM:614946
Dengue Fever	Hypoproteinemia	ORPHA:99828
Avian Influenza	Respiratory distress, Pharyngitis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac...	ORPHA:454836
X-Linked Intellectual Disability, Schimke Type	Vesicoureteral reflux, High palate, Hydronephrosis	ORPHA:85285
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventricular septal defect, Ventriculomegaly, Vascular dilatation	OMIM:219730
Capillary Malformation-Arteriovenous Malformation	Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformation, Hydrocephalus, ...	ORPHA:137667
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Death in infancy, Muscular ventricular septal defect, Di...	OMIM:619371
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Cerebellar atrophy, Hypoplasia of the pons, Corpus callosum atrophy, Iridocyclitis, Unsteady gait...	ORPHA:412057
Tetrasomy 5P	Respiratory distress, Posteriorly rotated ears, Micrognathia, Postnatal growth retardation, Hydro...	ORPHA:3309
Thanatophoric Dysplasia Type 1	Patent ductus arteriosus, Hydrocephalus, Respiratory insufficiency, Aplasia/Hypoplasia of the lun...	ORPHA:1860
Lissencephaly 6 With Microcephaly	Cerebellar atrophy, Microcephaly, Partial agenesis of the corpus callosum, Macrotia, Ventriculome...	OMIM:616212
Prolidase Deficiency	Hepatomegaly, Depressed nasal bridge, Micrognathia, Hyperimidodipeptiduria, Splenomegaly, Asthma,...	OMIM:170100
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Depressed nasal bridge, Congenital diaphragmatic hernia, Arterial t...	OMIM:614437
Isotretinoin Embryopathy-Like Syndrome	Cleft palate, Hydrocephalus, Conotruncal defect	OMIM:243440
Achondrogenesis Type 1B	Anteverted nares, Micromelia, Micrognathia, Aplasia/Hypoplasia of the lungs, Short foot, Short nose	ORPHA:93298
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Ataxia, Micrognathia, Pontocerebellar atrophy, Secondary microcephaly	OMIM:608799
Baraitser-Winter Syndrome 1	Bicuspid aortic valve, Anteverted nares, Patent ductus arteriosus, Wide nasal bridge, Micropenis,...	OMIM:243310
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Hypospadias, Narrow nasal ridge, Prominent nose, Congenital diaphragmatic...	ORPHA:363528
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia	ORPHA:199299
Methimazole Embryofetopathy	Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Coarctation of aorta, A...	ORPHA:1923
Atrial Septal Defect 6	Atrial septal defect	OMIM:613087
Distal Limb Deficiencies-Micrognathia Syndrome	Renal insufficiency, Proteinuria, Renal hypoplasia	ORPHA:1307
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Esophageal at...	ORPHA:77298
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Sensorineural hearing impairment, Axonal degeneration, Dysmetria, Tip-toe gai...	OMIM:302800
Mucolipidosis Type Ii	Hip contracture, Recurrent respiratory infections, Respiratory failure requiring assisted ventila...	ORPHA:576
Cranioectodermal Dysplasia 2	Hepatomegaly, Renal insufficiency, Depressed nasal bridge, Rhizomelia, Micrognathia, Splenomegaly...	OMIM:613610
Nipah Virus Disease	Respiratory distress, Recurrent pharyngitis, Infectious encephalitis, Cough	ORPHA:99825
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Apnea, Ataxia, Dyspnea, Sensorineural hearing impairment,...	OMIM:615636
Sifrim-Hitz-Weiss Syndrome	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Anteri...	OMIM:617159
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Fusariosis	Fasciitis, Sinusitis, Myositis, Pneumonia, Maculopapular exanthema, Productive cough, Keratitis, ...	ORPHA:228119
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Apnea, Episodic tachypnea, Cerebral atrophy, Aspiration pneumonia, Loss of am...	ORPHA:79264
Spondyloepiphyseal Dysplasia, Nishimura Type	Recurrent respiratory infections, Short nose, Small hand, Inspiratory stridor	OMIM:618618
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas, Duodenal atresia	ORPHA:1203
Tetraploidy	Aplasia/Hypoplasia of the lungs, Hydronephrosis, Cleft palate, Renal hypoplasia/aplasia	ORPHA:3305
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Pa...	OMIM:602782
Penile Agenesis	Urethral atresia, male, Ventricular septal defect, Hydroureter, Rectal fistula, Fetal pyelectasis...	ORPHA:49
Stuve-Wiedemann Syndrome 1	Anteverted nares, Apnea, Malar flattening, Micrognathia, Carious teeth, Short tibia, Pulmonary ar...	OMIM:601559
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Skeletal muscle atrophy, Micrognathia, Joint contracture, Gastroesophageal reflux, ...	OMIM:615419
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Atrial septal defect	OMIM:113301
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Secundum atrial septal defect, Lymphangioma, Recurrent pneumonia, Subarteri...	ORPHA:99646
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Neonatal respiratory distress, Ventricular septal defect, Intestinal malrotation, Patent ductus a...	ORPHA:457193
Sick Sinus Syndrome 2	Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse	OMIM:163800
16P12.1P12.3 Triplication Syndrome	High, narrow palate, Bulbous nose, Abnormal heart morphology, Abnormal tricuspid valve morphology...	ORPHA:485405
Pierpont Syndrome	Wide nose, Broad nasal tip, Short toe, Short foot, Short finger, Short palm, Malar flattening, Mi...	OMIM:602342
Combined Oxidative Phosphorylation Deficiency 25	Cerebellar atrophy, Short stature, Hypoplasia of the pons, Sensorineural hearing impairment, Cere...	OMIM:616430
Mitochondrial Complex I Deficiency, Nuclear Type 18	Respiratory failure, Hydroureter, Hydronephrosis	OMIM:618240
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Cerebellar atrophy, Steppage gait, Ataxia, Cerebral atrophy	OMIM:607250
Wiedemann-Rautenstrauch Syndrome	Prominent scalp veins, Recurrent respiratory infections, Pneumonia, Secundum atrial septal defect...	OMIM:264090
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Unsteady gait, Dysmetria	OMIM:614867
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Mandibular prognathia, Microretrognathia, Dilation of Virchow-Robin spaces, Ventricular septal de...	OMIM:300998
Congenital Disorder Of Glycosylation, Type Ij	Hypoproteinemia	OMIM:608093
Spinocerebellar Ataxia 42	Cerebellar atrophy, Spastic ataxia, Ataxia, Loss of Purkinje cells in the cerebellar vermis, Unst...	OMIM:616795
Orofaciodigital Syndrome Xv	Lobulated tongue, Hydronephrosis	OMIM:617127
De Barsy Syndrome	Recurrent sinopulmonary infections, Ventricular septal defect, Cryptorchidism, Patent ductus arte...	ORPHA:2962
Developmental And Epileptic Encephalopathy 5	Cerebellar atrophy, Microcephaly, Cerebral atrophy, Atrophy/Degeneration affecting the brainstem,...	OMIM:613477
Immunodeficiency 15A	Chronic mucocutaneous candidiasis, Recurrent sinusitis, Recurrent otitis media, Acne inversa, Cut...	OMIM:618204
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Short stature, Posteriorly rotated ears, Ataxia, Microcephaly, Micrognathia, Hydrocephalus, Colpo...	OMIM:619833
Diabetes Insipidus, Neurohypophyseal	Wide nose, Short nose	OMIM:125700
Filippi Syndrome	Cerebellar atrophy, Microcephaly, Postnatal growth retardation, Intrauterine growth retardation, ...	OMIM:272440
Mandibulofacial Dysostosis-Microcephaly Syndrome	Micrognathia, Hypoplasia of the maxilla, Cleft palate, Atrial septal defect, Malar flattening, Sh...	ORPHA:79113
Matthew-Wood Syndrome	Vesicoureteral reflux, Renal hypoplasia, Horseshoe kidney	ORPHA:2470
Fabry Disease	Abnormal endocardium morphology, Renal insufficiency, Transient ischemic attack, Proteinuria, Mal...	ORPHA:324
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Depressed nasal bridge, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac ...	OMIM:608776
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypospadias, Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosi...	OMIM:611812
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Ureteral duplication, Anal stenosis, Depressed nasal bridge, Anteverted nares, Congenital diaphra...	OMIM:614080
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Ataxia, Increased CSF lactate	OMIM:612016
Axial Osteomalacia	Renal cyst	OMIM:109130
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ...	OMIM:612474
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Progressive gai...	ORPHA:352403
Developmental And Epileptic Encephalopathy 90	Atrial septal defect, Apneic episodes in infancy	OMIM:301058
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Growth delay, Pancreatitis, Respiratory distress, Choreoathetosis	ORPHA:289916
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cerebellar atrophy, Inability to walk, Cerebral atrophy, Gait ataxia, Progressive microcephaly	OMIM:618917
Pontocerebellar Hypoplasia, Type 7	Apnea, Ataxia, Micrognathia, Hypoplasia of the pons, Hydrocephalus, Cerebral atrophy, Choreoathet...	OMIM:614969
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Atrial septal defect	OMIM:620094
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Death in infancy, Pericardial effusion, Multiple muscular ventricular septal defects, High palate...	OMIM:620070
Succinic Semialdehyde Dehydrogenase Deficiency	Cerebellar atrophy, Elevated CSF 4-hydroxybutyric acid concentration, Ataxia, Elevated CSF gamma-...	OMIM:271980
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tru...	ORPHA:98764
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Micrognathia, Hydrocephalus, Cerebral atrophy, Growth delay, Colpocephaly, Low-set ears, Retrogna...	OMIM:620156
Spastic Paraplegia 78, Autosomal Recessive	Cerebellar atrophy, Ataxia, Gait ataxia, Falls, Cerebral cortical atrophy	OMIM:617225
Autism Spectrum Disorder Due To Auts2 Deficiency	Atrial septal defect, Cryptorchidism, Abnormal heart morphology	ORPHA:352490
Granulomatosis With Polyangiitis	Episcleritis, Subglottic stenosis, Sinusitis, Keratitis, Uveitis, Respiratory insufficiency, Conj...	OMIM:608710
Spinocerebellar Ataxia 50	Cerebellar atrophy, Ataxia, Cerebellar vermis atrophy, Hearing impairment	OMIM:620158
Huntington Disease	Cerebellar atrophy, Neuronal loss in central nervous system, Gait ataxia	OMIM:143100
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve...	ORPHA:1880
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, Malabsorption...	ORPHA:912
Ataxia-Telangiectasia	Sinusitis, Short stature, Ataxia, Microcephaly, Inability to walk, Bronchiectasis, Choreoathetosi...	OMIM:208900
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:36913
20P12.3 Microdeletion Syndrome	Atrial septal defect, Ventriculomegaly	ORPHA:261295
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Growth delay, Respiratory insufficiency due to muscle weakness, Respiratory distress	OMIM:613561
Intellectual Developmental Disorder, Autosomal Dominant 56	Broad-based gait, Ataxia, Inability to walk, Sensorineural hearing impairment, Protruding ear, La...	OMIM:617854
Acrocardiofacial Syndrome	Death in infancy, Mitral stenosis, Ventricular septal defect, Cryptorchidism, Cleft palate, Coarc...	ORPHA:2008
Acalvaria	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Lipoyltransferase 1 Deficiency	Cerebellar atrophy, Pulmonary arterial hypertension, Ventriculomegaly	OMIM:616299
Pontocerebellar Hypoplasia, Type 2E	Cerebellar atrophy, Ventriculomegaly, Short stature, Microcephaly, Micrognathia, Cerebral atrophy...	OMIM:615851
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus, Steppage gait, Inability to walk by childhood/adolescence, Sensorineural hearing i...	ORPHA:99947
Alagille Syndrome	Hepatomegaly, Hypoplasia of the ulna, Ventricular septal defect, Micrognathia, Long nose, Abnorma...	ORPHA:52
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Hypoalbuminemia	OMIM:226300
Developmental And Epileptic Encephalopathy 67	Cerebellar atrophy, Athetosis, Gait disturbance	OMIM:618141
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Micrognathia, 3-Methylglutaconic aciduria, Hypertrophic cardiomyopathy, Lo...	ORPHA:496790
12Q14 Microdeletion Syndrome	Renal hypoplasia, Horseshoe kidney, Ectopic kidney	ORPHA:94063
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosity, Micrognat...	OMIM:609192
Genitopalatocardiac Syndrome	Cryptorchidism, Abnormal mesentery morphology, Abnormality of the gallbladder, Hydrocephalus, Cle...	ORPHA:2075
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly	ORPHA:272
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Relative macrocephaly, Cerebellar vermis hypoplasia, Short stature, Micrognathia, Hydrocephalus, ...	ORPHA:459061
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Microcephaly, Micrognathia, Inability to wa...	OMIM:617193
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Caudate atrophy, Unsteady gait, Cerebral atrophy, Cerebellar vermis atrophy	OMIM:617435
Plasminogen Deficiency, Type I	Hydrocephalus, Recurrent upper respiratory tract infections, Conjunctivitis, Cerebellar hypoplasi...	OMIM:217090
Image Syndrome	Hypospadias, Hydronephrosis	ORPHA:85173
Baller-Gerold Syndrome	Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Prominent nasal bridge, Micrognathia, Aplas...	ORPHA:1225
C Syndrome	Hepatomegaly, Short metacarpal, Ventricular septal defect, Anteverted nares, Micromelia, Microgna...	OMIM:211750
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Renal insufficiency, Mitral atresia, Ectopic kidney, Pulmonary artery stenosis, Bulbous nose, Hyp...	ORPHA:140952
Fanconi Anemia, Complementation Group F	Pneumonia, Vesicoureteral reflux, Renal hypoplasia, Microphallus, Atrial septal defect, Pelvic ki...	OMIM:603467
Inverted Duplicated Chromosome 15 Syndrome	Cryptorchidism, Tetralogy of Fallot, Ventricular septal defect, High palate	ORPHA:3306
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, Micrognathia, Renal cyst, Microphallus, Vesicoureteral reflux, P...	OMIM:618454
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Mandibular prognathia, Hypospadias, Ankle flexion contracture, Pulmonary artery stenosis, Knee fl...	ORPHA:435938
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Chronic pulmonary obstruction, Growth delay, Cough, Pulmonary arterial hype...	ORPHA:2414
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Broad-based gait, Short stature, Microcephaly, Micrognathia, Cupped ear, Limb ataxia, Low-set ear...	OMIM:617101
Syndromic Diarrhea	Hepatomegaly, Lymphopenia, Villous atrophy, Bicuspid aortic valve, Ventricular septal defect, Hep...	ORPHA:84064
Spinocerebellar Ataxia 34	Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Erythroderma, Cerebral ...	OMIM:133190
Microform Holoprosencephaly	Narrow nasal bridge, Hypoplasia of penis, Midnasal stenosis, Anteverted nares, Choanal atresia, A...	ORPHA:280200
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Mucolipidosis Iv	Cerebellar atrophy, Dysplastic corpus callosum, Microcephaly	OMIM:252650
Good Syndrome	Sinusitis, Recurrent skin infections, Dyspnea, Bronchiectasis, Cough	ORPHA:169105
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Micrognathia, Patent ductus arteriosus, Bilateral cleft lip and palate, A...	ORPHA:2001
Progressive Myoclonic Epilepsy Type 3	Cerebellar atrophy, Progressive truncal ataxia, Microcephaly, Cerebral atrophy, Progressive cereb...	ORPHA:263516
Hypouricemia, Renal, 2	Hypouricemia	OMIM:612076
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Pancreatic lymphangiectasis, S...	OMIM:235255
Congenital Heart Defects And Ectodermal Dysplasia	Atrioventricular canal defect	OMIM:617364
Galloway-Mowat Syndrome 9	Cerebellar atrophy, Microcephaly, Choreoathetosis, Secondary microcephaly, Low-set ears, Macrotia...	OMIM:619603
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi...	OMIM:618775
Vater/Vacterl Association	Occipital encephalocele, Ventricular septal defect, Spina bifida, Esophageal atresia, Patent duct...	OMIM:192350
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Peripheral pulmonary artery stenosis, Wide nose, Hydroureter, Bicuspid aortic valve, Depressed na...	OMIM:300707
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Intestinal malrotation, Portal hypertension, Microcolon, Megacystis, Hepatic failure...	OMIM:619431
Lig4 Syndrome	Asthma, Psoriasiform dermatitis, Chronic sinusitis, Microcephaly	OMIM:606593
Noonan Syndrome 9	Cryptorchidism, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta	OMIM:616559
Kyphoscoliotic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Micrognathia, ...	ORPHA:536545
Spinocerebellar Ataxia Type 2	Olivopontocerebellar hypoplasia, Cerebellar Purkinje layer atrophy, Gait ataxia, Progressive cere...	ORPHA:98756
Cadds	Cerebellar atrophy, Cholangitis, Micrognathia, Sensorineural hearing impairment, Intrauterine gro...	ORPHA:369942
Autosomal Dominant Omodysplasia	Short humerus, Hypoplasia of penis, Depressed nasal bridge, Rhizomelia, Micrognathia, Short palm,...	ORPHA:93328
Acute Lung Injury	Respiratory distress, Acute pancreatitis, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory f...	ORPHA:178320
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Anteverted nares, Facial palsy, Micrognathia, High palate, Dysphagia, Sho...	OMIM:614744
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Recurrent bronchopulmonary ...	OMIM:617303
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Abnormal heart valve morphology, Intestinal pseudo-obstruction, Splenomegaly, Asthm...	OMIM:309900
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Hengel-Maroofian-Schols Syndrome	Cerebellar atrophy, Short stature, Microcephaly, Inability to walk, Cerebral atrophy, Gait imbalance	OMIM:619641
Cln5 Disease	Cerebellar atrophy, Ataxia, Atrophy/Degeneration affecting the central nervous system, Corpus cal...	ORPHA:228360
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Hypoplasia of the thymus, Death in childhood, Death in infancy, Leukocytosis, Cong...	OMIM:243150
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Aganglionic megacolon, Ventricular septal defect	OMIM:235750
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Short stature, Microcephaly, Dysplastic corpus callosum, Mild short stature, ...	OMIM:614833
Acute Adrenal Insufficiency	Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia	ORPHA:95409
Aneurysm-Osteoarthritis Syndrome	Arterial dissection, Camptodactyly of finger, Arterial tortuosity, Patent ductus arteriosus, Dent...	ORPHA:284984
Nephronophthisis 1	Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria...	OMIM:256100
Megalencephaly	Atrial septal defect, Macroorchidism	ORPHA:2477
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Gait ataxia, Limb ataxia, Atrophy/Degeneration affecting the brainstem	OMIM:619862
Spinocerebellar Ataxia 27B, Late-Onset	Cerebellar atrophy, Limb ataxia, Gait ataxia	OMIM:620174
Igg4-Related Pachymeningitis	Sinusitis, Abnormal cerebrospinal fluid morphology, Dyspnea, Lymphadenitis, Nephritis, Increased ...	ORPHA:449427
Galloway-Mowat Syndrome 6	Cerebellar atrophy, Short stature, Microcephaly, Growth delay, Intrauterine growth retardation, C...	OMIM:618347
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Cerebellar atrophy, Microcephaly, Inability to walk, Sensorineural hearing impairment, Brain atrophy	OMIM:614739
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Recurrent respiratory infections, Short nose	ORPHA:1389
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Bicuspid aortic valve, Anteverted nares, Mitral atresia, Hypospadias, Micrognathia, Ta...	OMIM:220111
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w...	ORPHA:254864
Vesicoureteral Reflux 3	Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Hydroureter, Grade III vesico...	OMIM:613674
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Pericarditis, Renal insufficiency, Proteinuria, Pericardial effusion, Stage 5 chron...	OMIM:619487
D-2-Hydroxyglutaric Aciduria 1	Apnea, Micrognathia, Subependymal cysts, Lateral ventricle dilatation, Macrocephaly, Inspiratory ...	OMIM:600721
Bardet-Biedl Syndrome 6	Hypospadias, Renal cyst	OMIM:605231
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Posteriorly rotated ears, Dyspnea, Respiratory failure, Abnormal antitragus...	ORPHA:2759
17P13.3 Microduplication Syndrome	Wide nose, Hypoplasia of penis, High palate, Short nose	ORPHA:217385
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Asthma, Patent ductus arteriosus, Hydrocephalus, High palate, Atrial septal de...	OMIM:618162
Mitochondrial Dna Depletion Syndrome 11	Cerebellar atrophy, Dyspnea, Respiratory insufficiency, Microcephaly	OMIM:615084
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Cerebellar atrophy, Ataxia, Inability to walk, Unsteady gait, Cerebral atrophy, Gait ataxia	ORPHA:1947
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Cerebellar hypoplasia	ORPHA:352682
Duane-Radial Ray Syndrome	Renal malrotation, Ventricular septal defect, Renal agenesis, Vesicoureteral reflux, Renal hypopl...	OMIM:607323
Trisomy 17P	Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Urethral stenosis, Cleft palate, M...	ORPHA:261290
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Hydrocephalus, Unsteady gait, Agenesis of corpus callosum	OMIM:617542
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Macroglossia, Atrial septal defect, Patent f...	OMIM:615668
Acromicric Dysplasia	Short metacarpal, Anteverted nares, Bulbous nose, Small hand, Short palm, Short nose	ORPHA:969
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Inability to walk, Lateral ventricle dilatation, Low-set ears, Ventricu...	OMIM:613443
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Ventricular hypertrophy, Hepatomegaly, Pulmonary edema, Transient ischemic ...	OMIM:115197
Spastic Paraplegia, Ataxia, And Mental Retardation	Cerebellar atrophy, Ataxia, Spastic gait	OMIM:607565
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Neonatal respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Atrial septal...	OMIM:618870
Fg Syndrome Type 1	Anal atresia, Abnormal large intestine morphology, Malrotation of colon, Cryptorchidism, Hydrocep...	ORPHA:93932
Hydrolethalus Syndrome 2	Micrognathia, Hydrocephalus, Anencephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614120
Congenital Heart Block	Crackles, Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, Pleural eff...	ORPHA:60041
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Microcep...	ORPHA:370959
Wolfram Syndrome 1	Neurogenic bladder, Hydroureter, Stroke-like episode, Cardiomyopathy, Dysphagia, Hydronephrosis	OMIM:222300
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Microcephaly, Inability to walk, Growth delay, Large earlobe, Lateral ventricle dilatation	OMIM:615716
Joubert Syndrome With Oculorenal Defect	Encephalocele, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Apnea, Ataxia, Hy...	ORPHA:2318
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Leptospirosis	Hyperproteinemia	ORPHA:509
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Cryptorchidism, Aortic root aneurysm, Ventricular septal defect	OMIM:301039
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Ataxia, Tachypnea, Respiratory insufficiency, Respiratory failure, Increase...	OMIM:614299
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Relative macrocephaly, Mandibular prognathia, Ventriculomegaly, Short stature, Abnormal pinna mor...	OMIM:300354
Amoebiasis Due To Free-Living Amoebae	Sinusitis, Abnormal medulla oblongata morphology, Pneumonia, Abnormal cerebrospinal fluid morphol...	ORPHA:68
Congenital Myopathy 12	Respiratory insufficiency due to muscle weakness, High, narrow palate, Jaw contracture, Pulmonary...	OMIM:612540
Whim Syndrome	Pharyngitis, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Recu...	ORPHA:51636
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Short stature, Ataxia, Microcephaly, Choreoathetosis	OMIM:612438
Spinocerebellar Ataxia 26	Cerebellar atrophy, Truncal ataxia, Limb ataxia, Gait ataxia	OMIM:609306
Nijmegen Breakage Syndrome	Sinusitis, Short stature, Microcephaly, Micrognathia, Malar prominence, Recurrent pneumonia, Bron...	OMIM:251260
Johanson-Blizzard Syndrome	Anteriorly placed anus, Hepatic fibrosis, Atrial septal defect, Micropenis, Hepatomegaly, Hypospa...	OMIM:243800
Spinocerebellar Ataxia 48	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia	OMIM:618093
Chung-Jansen Syndrome	High palate, Short nose, Anteverted nares, Micrognathia	OMIM:617991
Slc35A2-Cdg	Cerebellar atrophy, Short stature, Microcephaly, Inability to walk, Sensorineural hearing impairm...	ORPHA:356961
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia	OMIM:242050
Suleiman-El-Hattab Syndrome	Recurrent respiratory infections, Ventricular septal defect, High palate, Atrial septal defect, P...	OMIM:618950
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Cerebellar atrophy, Short stature, Cerebral atrophy, Increased CSF lactate, Elevated CSF fumarate...	OMIM:619060
Tarp Syndrome	Meckel diverticulum, Subdural hemorrhage, Horseshoe kidney, Cleft palate, Tongue nodules, Glossop...	OMIM:311900
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress	ORPHA:91130
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:89937
Perlman Syndrome	Distal ileal atresia, Cryptorchidism, Pancreatic islet-cell hyperplasia, Interrupted aortic arch,...	OMIM:267000
Multiple Sulfatase Deficiency	Cerebellar atrophy, Short stature, Ataxia, Hydrocephalus, Cerebral atrophy, Increased CSF protein...	OMIM:272200
Temple-Baraitser Syndrome	Atrial septal defect, Pulmonic stenosis	OMIM:611816
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Cerebral atrophy, Dysmetria, Athetosis, Int...	OMIM:617710
Van Esch-O'Driscoll Syndrome	Ventricular septal defect, Depressed nasal bridge, Esophageal atresia, Pulmonary artery stenosis,...	OMIM:301030
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Ataxia, Cerebellar gliosis, Dysmetria, Gait ataxia, Respiratory failure, Step...	OMIM:616505
Developmental And Epileptic Encephalopathy 93	Cerebellar atrophy, Microcephaly, Inability to walk, Cerebral atrophy, Gait disturbance	OMIM:618012
Purine Nucleoside Phosphorylase Deficiency	Sinusitis, Ataxia, Pneumonia, Recurrent upper respiratory tract infections, Otitis media	OMIM:613179
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Protruding tongue, Recurrent pneumonia, Wide nasal bridge, Short nose, Pa...	OMIM:619179
Trigonocephaly With Short Stature And Developmental Delay	High palate, Ventricular septal defect	OMIM:314320
Chronic Granulomatous Disease	Sinusitis, Eczema, Chronic pulmonary obstruction, Otitis media, Inflammatory abnormality of the eye	ORPHA:379
Frontoocular Syndrome	Atrial septal defect, High palate, Pulmonic stenosis	OMIM:605321
Brunet-Wagner Neurodevelopmental Syndrome	Cerebellar atrophy, Cerebral atrophy	OMIM:619690
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Recurrent respiratory infections, Thrombocytopenia, Patent ductus arteriosu...	ORPHA:505248
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Tyshchenko Syndrome	Ventricular septal defect, Cryptorchidism, High, narrow palate, Narrow palate, Cleft palate, High...	OMIM:615102
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Microcephaly, Increased CSF lactate, Neurodegeneration, Neuronal loss in cent...	OMIM:616239
Omodysplasia 1	Short humerus, Ventricular septal defect, Depressed nasal bridge, Rhizomelia, Micrognathia, Pulmo...	OMIM:258315
Huppke-Brendel Syndrome	Cerebellar atrophy, Inability to walk, Cerebral atrophy, Hearing impairment	OMIM:614482
Auriculocondylar Syndrome	Respiratory distress, Low-set, posteriorly rotated ears, Abnormality of the temporomandibular joi...	ORPHA:137888
Spastic Ataxia 2, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Cerebral atrophy, Gait ataxia, Dysmetria	OMIM:611302
Al-Raqad Syndrome	Atrial septal defect, Short nose	OMIM:616459
Joubert Syndrome 35	Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:618161
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Ketonuria, Dic...	OMIM:619355
Gaucher Disease, Perinatal Lethal	Respiratory distress, Hepatomegaly, Depressed nasal bridge, Anteverted nares, Apnea, Cardiomegaly...	OMIM:608013
Trigonocephaly-Short Stature-Developmental Delay Syndrome	High palate, Ventricular septal defect	ORPHA:3369
Diaphanospondylodysostosis	Respiratory distress, Depressed nasal bridge, Micrognathia, Missing ribs, Depressed nasal ridge, ...	OMIM:608022
Microsporidiosis	Pharyngitis, Myositis, Sinusitis, Osteomyelitis, Pneumonia, Cholangitis, Abnormal vocal cord morp...	ORPHA:2552
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, High, narrow palate, Abd...	ORPHA:91387
Spastic Paraplegia 51, Autosomal Recessive	Cerebellar atrophy, Short stature, Microcephaly, Inability to walk, Prominent antihelix, Cerebral...	OMIM:613744
Spinocerebellar Ataxia Type 20	Cerebellar atrophy, Ataxia, Gait ataxia	ORPHA:101110
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Mitral valve calcification, Depressed nasal bridge, Proteinuria, Narrow nasal ridge...	OMIM:619127
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Facial hypotonia, Mitral valve prolapse, High palate, Camptodactyly, Short nose, Patent foramen o...	OMIM:615539
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine	Cerebellar atrophy, Progressive cerebellar ataxia	OMIM:618412
Potocki-Shaffer Syndrome	Short nose, Micropenis, Wide nasal bridge, Underdeveloped nasal alae	OMIM:601224
Short Stature, Microcephaly, And Endocrine Dysfunction	Unilateral renal agenesis, Ectopic kidney, Dilated cardiomyopathy, Renal hypoplasia, Micropenis	OMIM:616541
Mitchell-Riley Syndrome	Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ...	OMIM:615710
Fetal Alcohol Syndrome	Anteverted nares, Congenital diaphragmatic hernia, Micrognathia, Cleft palate, Atrial septal defe...	ORPHA:1915
Krabbe Disease	Diffuse cerebral atrophy, Hydrocephalus, Neurodegeneration, Increased CSF protein concentration, ...	OMIM:245200
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Patent ductus arteriosus, Muscular ventricular septal defect, Velopharyngeal insufficiency, Abnor...	ORPHA:363444
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Axonal degeneration, Paradoxical respiration	OMIM:620011
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Aganglionic megacolon, Broad nasal tip, Short toe, Wide nasal bridge, Clef...	OMIM:239300
Spinocerebellar Ataxia 5	Cerebellar atrophy, Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokin...	OMIM:600224
Sandhoff Disease, Juvenile Form	Cerebellar atrophy, Gait disturbance, Ataxia, Cerebral atrophy	ORPHA:309162
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Sensorineural hearing impairment, Cerebellar atrophy, Microcephaly	ORPHA:544503
Abruzzo-Erickson Syndrome	Atrial septal defect, Cryptorchidism, Cleft palate	ORPHA:921
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum, Macrocephaly	ORPHA:380
Acitretin/Etretinate Embryopathy	Conotruncal defect, High palate, Hypoplasia of the thymus, Atrioventricular canal defect, Median ...	ORPHA:40366
Huntington Disease-Like 1	Cerebellar atrophy, Dysmetria, Gait ataxia, Gait disturbance, Cerebral cortical atrophy, Ventricu...	ORPHA:157941
Fibromuscular Dysplasia, Multifocal	Tortuous cerebral arteries, Carotid artery tortuosity, Micrognathia, Hiatus hernia, Vertebral art...	OMIM:619329
Trisomy 1Q	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Cleft palate,...	ORPHA:261344
Temple Syndrome	Postnatal growth retardation, Relative macrocephaly, Hydrocephalus, Short stature	ORPHA:254516
Pheochromocytoma	Hypercalcemia	OMIM:171300
Alg9-Cdg	Villous atrophy, Micrognathia, Abnormal lung lobation, Right ventricular dilatation, Abnormal lef...	ORPHA:79328
Rhombencephalosynapsis	Low-set, posteriorly rotated ears, Fusion of the cerebellar hemispheres, Microretrognathia, Agene...	ORPHA:59315
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Scapular winging, Depressed nasal bridge, Anteverted nares, Camptodactyly ...	ORPHA:1327
Tatton-Brown-Rahman Syndrome	Cryptorchidism, Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Myeloid leu...	ORPHA:404443
Pfeiffer Syndrome Type 2	Respiratory distress, Aqueductal stenosis, Hydrocephalus, Chiari malformation, Atresia of the ext...	ORPHA:93259
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Short nose	ORPHA:2429
Stevenson-Carey Syndrome	Atrial septal defect, Central hypoventilation, Left superior vena cava draining to coronary sinus	OMIM:611961
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Short stature, Ataxia, Dysmetria, Delayed puberty, Loss of ambulation, Cerebr...	OMIM:607694
Spinocerebellar Ataxia Type 8	Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Unsteady gait, Limb ataxia, Gait ataxia, Aspi...	ORPHA:98760
Kaya-Barakat-Masson Syndrome	Cerebellar atrophy, Intrauterine growth retardation, Cerebral atrophy, Microcephaly	OMIM:619125
Netherton Syndrome	Recurrent respiratory infections, Ectopic kidney, Malabsorption, Asthma, Aminoaciduria, Emphysema...	ORPHA:634
Spinocerebellar Ataxia Type 14	Progressive cerebellar ataxia, Limb ataxia, Cerebellar vermis atrophy, Gait ataxia	ORPHA:98763
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Cerebellar atrophy, Neonatal respiratory distress, Apnea, Ataxia, Microceph...	OMIM:618426
Coffin-Siris Syndrome 5	Atrial septal defect, Dandy-Walker malformation	OMIM:616938
Hogue-Janssen Syndrome 2	Microcephaly, Inability to walk, Hydrocephalus, Gait ataxia, Agenesis of corpus callosum, Ventric...	OMIM:616362
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Sensorineural hearing impairment, Tubulointerstitial nephritis, Progr...	ORPHA:488627
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Short stature, Ataxia, Microcephaly, Asthma,...	ORPHA:209905
Chromosome 6Q11-Q14 Deletion Syndrome	Prominent nasal bridge, Micrognathia, Broad nasal tip, High palate, Short nose	OMIM:613544
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Cryptorchidism, Pate...	OMIM:605275
Developmental And Epileptic Encephalopathy 75	Cardiomyopathy, Short nose, Anteverted nares, Wide nasal bridge	OMIM:618437
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Patent ductus arteriosus, Respiratory failure, Atrial septal defect, Patent foramen ovale, Hydron...	OMIM:620327
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Pancreatic lymphangiectasis, Splenomegaly, Abnormal rena...	ORPHA:1655
Thrombotic Thrombocytopenic Purpura, Hereditary	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
Joubert Syndrome 2	Central apnea, Enlarged fossa interpeduncularis, Encephalocele, Agenesis of cerebellar vermis, At...	OMIM:608091
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism	ORPHA:743
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi...	ORPHA:2704
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Cerebellar atrophy, Microcephaly, Sensorineural hearing impairment, Growth delay, Ventriculomegaly	ORPHA:466934
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ataxia, Hydrocephalus, Craniofacial osteosclerosis, Chiari type I malformation, Neurodegeneration...	OMIM:618476
Temple Syndrome	Relative macrocephaly, Short stature, Posteriorly rotated ears, Micrognathia, Hydrocephalus, Recu...	OMIM:616222
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Seizures-Scoliosis-Macrocephaly Syndrome	Atrial septal defect, Cryptorchidism	ORPHA:466926
Peho Syndrome	Cerebellar atrophy, Microcephaly, External ear malformation, Hydrocephalus, Biparietal narrowing,...	ORPHA:2836
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Renal insufficiency, Anteverted nares, Protruding tongue, Conotruncal defect...	ORPHA:96147
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia	OMIM:614859
Exstrophy-Epispadias Complex	Renal dysplasia, Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the k...	ORPHA:322
Marinesco-Sjogren Syndrome	Cerebellar atrophy, Short stature, Ataxia, Microcephaly, Limb ataxia, Gait ataxia, Cerebellar cor...	OMIM:248800
Lymphatic Malformation 7	Respiratory distress, Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pl...	OMIM:617300
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Pulmonary artery sling, Abnormal pulmonary valve morphology, Aganglionic m...	ORPHA:261537
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Delayed eruption of teeth, Natal tooth, Short stature, Ataxia, Dysmetria, Gai...	OMIM:614381
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Ureteral stenosis, Depressed nasal bridge, Anteverted nares, Hydroureter,...	OMIM:615398
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial ef...	OMIM:235510
Tangier Disease	Accelerated atherosclerosis, Carotid artery stenosis, Hepatosplenomegaly, Facial diplegia, Left v...	ORPHA:31150
Whipple Disease	Hepatomegaly, Pericarditis, Malabsorption, Myocarditis, Mediastinal lymphadenopathy, Splenomegaly...	ORPHA:3452
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Ataxia, Pneumothorax, Growth delay, Global brain atrophy	OMIM:619738
Autosomal Dominant Progressive External Ophthalmoplegia	Facial palsy, Quadriceps muscle weakness, Dilated cardiomyopathy, Ragged-red muscle fibers, Limb ...	ORPHA:254892
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve...	OMIM:610168
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Cerebellar atrophy, Pneumothorax, Cerebral atrophy, Increased CSF lactate, ...	OMIM:620306
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Atrial septal defect, Submucous cleft hard palate, Bifid uvula, Pulmonic stenosis	OMIM:619239
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Micrognathia, Short toe, Wide nasal bridge, Cleft palate, Short foot, Limb unde...	OMIM:614078
Buratti-Harel Syndrome	Dilation of Virchow-Robin spaces, Cryptorchidism, Velopharyngeal insufficiency, Recurrent pneumon...	OMIM:619314
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly, Protruding ear, Cerebellar hypoplasia, Microcephaly	OMIM:618731
Alkuraya-Kucinskas Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Pericardial effusion, Micropenis, Pleural...	OMIM:617822
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Atria...	ORPHA:329224
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Hepatic fibrosis, Bacterial endocarditis, Hepatosplenomegaly, Varicose...	ORPHA:2072
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Macrocephaly	OMIM:307000
Baker-Gordon Syndrome	Prominent nasal tip, Short nose, Gastroesophageal reflux	OMIM:618218
Biemond Syndrome Type 2	Hydrocephalus, Short stature, Delayed puberty	ORPHA:141333
Spastic Ataxia 9, Autosomal Recessive	Growth delay, Ataxia, Cerebellar vermis atrophy, Dysmetria	OMIM:618438
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Eosinophilia, Recurrent pneumonia, Bronchiectasis, High palate,...	OMIM:618282
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil...	OMIM:614527
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Abnormal atrioventricular connection, Abnor...	ORPHA:264450
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Truncal ...	ORPHA:101112
Lethal Recessive Chondrodysplasia	Respiratory distress, Micrognathia	ORPHA:1423
9Q21.13 Microdeletion Syndrome	Gastrointestinal dysmotility, Abnormal tongue morphology, Hydronephrosis, Abnormal heart morphology	ORPHA:531151
Robinow Syndrome, Autosomal Recessive 2	Bicuspid aortic valve, Anteverted nares, Cleft soft palate, Broad nasal tip, Micrognathia, Wide n...	OMIM:618529
Weill-Marchesani Syndrome	Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	ORPHA:3449
Robinow Syndrome	Micrognathia, Atrial septal defect, Webbed penis, Micropenis, Multicystic kidney dysplasia, Depre...	ORPHA:97360
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Cerebral cortical atrophy, Microcephaly	OMIM:618201
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Cerebellar cyst	OMIM:615181
Cerebrofacioarticular Syndrome	Hypospadias, Renal hypoplasia, Abnormal heart morphology, Pulmonic stenosis, Tracheomalacia	ORPHA:314679
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D...	OMIM:610921
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Unsteady gait, Ataxia, Dysmetria	OMIM:159550
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus, Macrotia, Short stature, Microcephaly	OMIM:300558
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Abnormal aortic morphology	ORPHA:3222
Hec Syndrome	Communicating hydrocephalus, Vaginal hydrocele, Respiratory insufficiency, Cardiomyopathy, Endoca...	ORPHA:2119
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Depressed nasal bridge, Hypospadias, Broad nasal tip, Cleft palate, Hi...	OMIM:619736
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Spina bifida, Cleft palate, Ectopic anus, Anal atresia	ORPHA:2345
Proteus Syndrome	Lymphangioma, Splenomegaly, Venous malformation	OMIM:176920
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebellar atrophy, Short stature, Ataxia, Abnormal auditory evoked potentials, Sensorineural hea...	OMIM:619260
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Cerebellar atrophy, Microcephaly, Respiratory insufficiency due to muscle weakness, Dyspnea, Resp...	ORPHA:352447
Diamond-Blackfan Anemia 4	Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect	OMIM:612527
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Mowat-Wilson Syndrome	Bicuspid aortic valve, Pulmonary artery sling, Aganglionic megacolon, Asplenia, Cryptorchidism, P...	ORPHA:2152
Limb Body Wall Complex	Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph...	ORPHA:2369
Radio-Renal Syndrome	Respiratory distress, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Dys...	ORPHA:3015
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Cerebellar atrophy, Micrognathia, Prominent ear helix, Cerebral atrophy, Growth delay, Low-set ea...	OMIM:618659
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Thyroid Lymphoma	Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Hashimoto thyroiditis	ORPHA:97285
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Ventricular septal defect, Patent ductus arteriosus, Cleft palate, High palate, Atrial septal def...	OMIM:220500
Leukoencephalopathy With Vanishing White Matter 5	Loss of ambulation, Lateral ventricle dilatation, Dilated third ventricle	OMIM:620315
Immunodeficiency 20	Recurrent otitis media, Wheezing, Recurrent viral upper respiratory tract infections, Recurrent s...	OMIM:615707
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Cerebellar atrophy, Respiratory insufficiency due to muscle weakness, Sensorineural hearing impai...	OMIM:258450
Chromosome 19Q13.11 Deletion Syndrome, Distal	Anteverted nares, Hypospadias, Underdeveloped nasal alae, Micrognathia, Carious teeth, Wide nasal...	OMIM:613026
Liang-Wang Syndrome	Cerebellar atrophy, Ataxia, Cerebral atrophy, Laryngomalacia, Macrodontia of permanent maxillary ...	OMIM:618729
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Short stature, Microcephaly, Sensorineural hearing impairment, Cerebral atrophy, Respiratory fail...	OMIM:619847
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Epistaxis, Pulmonary arteriovenous malformation, Cerebral ar...	OMIM:175050
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Miscarriage, Cryptorchidism, Hydrocephalus, Respiratory insufficiency, Abnormal he...	ORPHA:1865
Peroxisome Biogenesis Disorder 4A (Zellweger)	Respiratory failure, Renal cyst	OMIM:614862
Pelizaeus-Merzbacher Disease	Broad-based gait, Short stature, Ataxia, Microcephaly, Inability to walk, Congenital laryngeal st...	OMIM:312080
Igg4-Related Kidney Disease	Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Sterile pyuria, Tubulointer...	ORPHA:449395
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Cerebral atro...	ORPHA:572798
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Cerebellar vermis hypoplasia, Apnea, Micrognathia, Tachypnea, Dilated th...	ORPHA:397715
Pallister-Hall Syndrome	Ectopic kidney, Abnormal lung lobation, Renal cyst, Anteriorly placed anus, Micropenis, Distal sh...	OMIM:146510
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Cerebellar atrophy, Mandibular prognathia, Short stature, Ataxia, Microcephaly, Inability to walk...	OMIM:619576
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Mixed hearing impairment, Short stature, Posteriorly rotated ears, Microgna...	OMIM:606164
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Anteverted nares, Intestinal malrotation, Velopharyngeal insufficiency, Submucous cleft hard pala...	OMIM:614701
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Eczema, Hypoplasia of the maxilla, Keratoconjunctivitis sicca, Cough, Inflammatory abn...	ORPHA:238468
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Asplenia, Cleft hard palate, Abnormality of the pulmonary artery, Bifid uv...	ORPHA:261552
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose, Aminoaciduria, Abnormal pattern of respiration	ORPHA:833
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Gait disturbance, Holoprosencephaly, Aplasia/Hypoplasia of the cerebe...	ORPHA:588
Combined Oxidative Phosphorylation Deficiency 32	Cerebellar atrophy, Microcephaly, Inability to walk, Increased CSF lactate, Choreoathetosis	OMIM:617664
Donnai-Barrow Syndrome	Ventricular septal defect, Depressed nasal bridge, Congenital diaphragmatic hernia, Broad nasal t...	OMIM:222448
Joubert Syndrome 14	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Cleft palate, Intracranial ...	OMIM:614424
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Pneumothorax, Renal cyst, Nephrocalcinosis, Cardiomyopathy, Respiratory fail...	ORPHA:445038
Alg1-Cdg	Cerebellar atrophy, Cerebral atrophy, Respiratory failure, Progressive microcephaly	ORPHA:79327
Houge-Janssens Syndrome 1	Hydrocephalus, Gait ataxia, Macrocephaly, Intrauterine growth retardation, Ventriculomegaly	OMIM:616355
Cog8-Cdg	Cerebellar atrophy, Ataxia, Progressive microcephaly, Atrophy/Degeneration affecting the brainste...	ORPHA:95428
Opitz Gbbb Syndrome	High palate, Vesicoureteral reflux, Atrial septal defect, Patent foramen ovale, Recurrent aspirat...	ORPHA:2745
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macroglossia, Hypoplasi...	OMIM:617022
Beta-Mercaptolactate Cysteine Disulfiduria	Atrial septal defect, High palate	ORPHA:1035
Leukodystrophy, Hypomyelinating, 12	Cerebellar atrophy, Microcephaly, Secondary microcephaly, Ventriculomegaly, Hearing impairment	OMIM:616683
Infantile Neuroaxonal Dystrophy	Cerebellar atrophy, Ataxia, Cerebellar gliosis, Unsteady gait, Apneic episodes in infancy, Gait d...	ORPHA:35069
Combined Oxidative Phosphorylation Defect Type 27	Diffuse cerebral atrophy, Diffuse cerebellar atrophy, Hearing impairment	ORPHA:477774
Coffin-Siris Syndrome	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, B...	ORPHA:1465
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Atrial...	ORPHA:2519
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Micrognathia	OMIM:618577
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Microcephaly, Hydrocephalus, Disproportionate short-trunk short stature, Gait disturbance, Macroc...	OMIM:613330
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Neonatal respiratory distress, Ventricular septal ...	OMIM:214100
Hyperinsulinemic Hypoglycemia, Familial, 8	Atrial septal defect	OMIM:620211
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Respiratory insufficiency due to muscle weakness, Micrognathia	ORPHA:1143
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Atrial septal defect, Ventriculomegaly	ORPHA:500533
47,Xyy Syndrome	Asthma, Hydrocephalus, Low-set ears, Macrocephaly, Dysgenesis of the cerebellar vermis, Malar fla...	ORPHA:8
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Abnormal dental enamel morphology, Hydrocephalus, Hypoplasia of the zygomatic bone, Gait disturba...	ORPHA:1812
Myopathy With Extrapyramidal Signs	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Splenomegaly, Leukocytosi...	OMIM:615673
Halperin-Birk Syndrome	Hearing impairment, Micrognathia, Inability to walk, Aspiration, Colpocephaly, Intrauterine growt...	OMIM:618651
Distal Deletion 10Q	Scapular winging, Prominent nasal bridge, Prominent nose, Micrognathia, Patent ductus arteriosus,...	ORPHA:96148
Slc39A8-Cdg	Cerebellar atrophy, Sudden episodic apnea, Short stature, Inability to walk, Increased CSF lactat...	ORPHA:468699
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Ataxia, Microcephaly, Anteverted ears, Inability to walk, Dysmetria, Cereb...	OMIM:618087
Myopathy, Centronuclear, X-Linked	Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Hydrocephalus,...	OMIM:310400
Delpire-Mcneill Syndrome	Ventricular septal defect, Tracheoesophageal fistula	OMIM:619083
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Anteverted nares, Micrognathia, Wide nasal bridge, Cleft palate, Abnor...	OMIM:247200
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Short stature, Absent pubertal growth spurt, Ataxia, Microcephaly, Sensorineu...	OMIM:615919
Trigonocephaly 1	High, narrow palate, Long penis, Wide nasal bridge, Short nose, Meckel diverticulum	OMIM:190440
Snijders Blok-Campeau Syndrome	Perimembranous ventricular septal defect, High palate, Pulmonic stenosis, Atrial septal defect, V...	OMIM:618205
1Q44 Microdeletion Syndrome	Intestinal malrotation, Hydrocephalus, Abnormal cardiac septum morphology, High palate, Ventricul...	ORPHA:238769
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Posteriorly rotated ears, Microcephaly, Hydrocephalus, Sensorineural...	OMIM:615219
Clark-Baraitser Syndrome	Depressed nasal bridge, Anteverted nares, High palate, Short nose, Low hanging columella	OMIM:617752
Gaucher Disease, Type Ii	Splenomegaly, Hepatomegaly, Double aortic arch	OMIM:230900
Methylcobalamin Deficiency Type Cble	Microcephaly, Postnatal growth retardation, Hydrocephalus, Brain atrophy, Intrauterine growth ret...	ORPHA:2169
Odontochondrodysplasia 1	Relative macrocephaly, Respiratory distress, Delayed eruption of teeth, Short stature, Mesomelic ...	OMIM:184260
Granulomatosis With Polyangiitis	Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Epistaxis, Prostatitis, Chro...	ORPHA:900
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Global brain atrophy, Steppage gait, Ataxia, Cerebellar vermis atrophy	ORPHA:94124
Autosomal Spastic Paraplegia Type 58	Cerebellar atrophy, Spastic ataxia, Short stature, Microcephaly, Unsteady gait, Dysmetria, Cerebr...	ORPHA:397946
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Micrognathia, Respiratory insufficiency, Short nose	ORPHA:1895
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Hypospadias, M...	OMIM:257300
Achondroplasia	Respiratory distress, Rhizomelia, Hydrocephalus, Upper airway obstruction, Recurrent otitis media...	OMIM:100800
Oculoauriculofrontonasal Syndrome	Encephalocele, Ventricular septal defect, Cleft palate	ORPHA:398156
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Short humerus, Wide nose, Short metacarpal, Rhizomelia, Depressed nasal ri...	ORPHA:2831
Musculocontractural Ehlers-Danlos Syndrome	Microretrognathia, Decreased muscle mass, Abnormal heart valve morphology, Functional abnormality...	ORPHA:2953
Zygomycosis	Fasciitis, Sinusitis, Pericarditis, Epistaxis, Gastritis, Pustule, Myocarditis, Peritonitis, Pneu...	ORPHA:73263
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Atrial septal defect, Ventriculomegaly	OMIM:611087
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Micrognathia, Gait ataxia, Bilateral se...	OMIM:620089
Poland Syndrome	Encephalocele, Dextrocardia, Cryptorchidism, Acute leukemia, Abnormality of the liver, Atrial sep...	ORPHA:2911
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Limb ataxia, Dysmetria, Progressive cerebellar ataxia, Progressive gait ataxi...	ORPHA:284289
Cognitive Impairment With Or Without Cerebellar Ataxia	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia	OMIM:614306
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Duplicated collecting system, Cholestasis, Hepatosplenomegaly, Hep...	ORPHA:541423
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar atrophy, Microretrognathia, Cerebellar vermis hypoplasia, Ataxia, Eczema, Microcephaly...	OMIM:300966
Moebius Syndrome	Respiratory distress, Abnormal nasopharynx morphology, Abnormal pinna morphology, Micrognathia, D...	OMIM:157900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Pancreatitis, Choreoathetosis	ORPHA:79312
Spinocerebellar Ataxia 2	Dilated fourth ventricle, Cerebellar atrophy, Ataxia, Unsteady gait, Dysmetria, Limb ataxia, Prog...	OMIM:183090
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Gait ataxia	ORPHA:71517
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Cerebellar atrophy, Short stature, Sensorineural hearing impairment, Cerebral atrophy, Gait ataxi...	OMIM:616192
Infantile Krabbe Disease	Respiratory distress, Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, D...	ORPHA:206436
Hypermanganesemia With Dystonia 2	Cerebellar atrophy, Microcephaly, Inability to walk, Scissor gait, Cerebral atrophy, Tip-toe gait...	OMIM:617013
Giant Axonal Neuropathy 1, Autosomal Recessive	Abnormal cerebellum morphology, Lateral ventricle dilatation, Steppage gait, Macrocephaly	OMIM:256850
Rubinstein-Taybi Syndrome 1	Accessory spleen, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coa...	OMIM:180849
Hurler Syndrome	Recurrent respiratory infections, Hepatomegaly, Death in infancy, Abnormal heart valve morphology...	ORPHA:93473
Spinocerebellar Ataxia Type 19/22	Cerebellar atrophy, Broad-based gait, Ataxia, Limb ataxia, Difficulty walking, Truncal ataxia	ORPHA:98772
Combined Oxidative Phosphorylation Defect Type 39	Microcephaly, Corpus callosum atrophy, Abnormal cerebellum morphology, Cerebral atrophy, Increase...	ORPHA:565624
8P11.2 Deletion Syndrome	Hemolytic anemia, Cryptorchidism, Patent ductus arteriosus, Splenomegaly, Spherocytosis, Mitral v...	ORPHA:251066
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Micrognathia, Dental malocc...	ORPHA:329178
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
Gaucher Disease	Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Abnormal...	ORPHA:355
Zechi-Ceide Syndrome	Atrial septal defect, Cleft palate, Abnormal heart morphology	ORPHA:217017
Kniest Dysplasia	Respiratory distress, Rhizomelia, Tracheomalacia, Disproportionate short-trunk short stature, Rec...	OMIM:156550
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil...	OMIM:619656
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Ataxia, Cerebellar Purkinje layer atrophy, Generalized cerebral atrophy/hypop...	ORPHA:98759
Lateral Meningocele Syndrome	Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Hydro...	OMIM:130720
Microphthalmia With Limb Anomalies	Depressed nasal bridge, Flared nostrils, Hand oligodactyly, Fibular hypoplasia, Cleft palate, Int...	OMIM:206920
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Hypospadias, Recurrent pneumonia, Cleft palate, Furrowed tongue, High ...	OMIM:616449
Spinocerebellar Ataxia 25	Cerebellar atrophy, Ataxia, Hearing impairment	OMIM:608703
Diencephalic Syndrome	Hydrocephalus, Macrotia	ORPHA:1672
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Cerebellar atrophy, Short stature, Posteriorly rotated ears, Extra-axial cerebrospinal fluid accu...	OMIM:617763
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Laryngotracheal stenosis, Upper airway obstruction, Stridor, Cough	ORPHA:142
Otopalatodigital Syndrome Type 2	Abnormal heart valve morphology, Depressed nasal bridge, Camptodactyly of finger, Hypospadias, Mi...	ORPHA:90652
Warsaw Breakage Syndrome	High palate, Tetralogy of Fallot, Ventricular septal defect	OMIM:613398
Proteasome-Associated Autoinflammatory Syndrome 3	Myositis, Sinusitis, Skin rash, Arthritis, Panniculitis, Conjunctivitis	OMIM:617591
Central Precocious Puberty In Male	Hydrocephalus, Acne	ORPHA:649929
Congenital Myopathy 17	Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia, Respiratory insufficiency	OMIM:618975
Mosaic Trisomy 16	Meckel diverticulum, Ventricular septal defect, Patent ductus arteriosus, Abnormal lung morpholog...	ORPHA:1708
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Abnormal pinna morphology, Micrognathia, Corpus callosum atrophy, Dystonic gait, Retrognathia, Ce...	ORPHA:480898
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Short stature, Hydrocephalus, Low-set ears, Macrocephaly, Intrauterine growth retarda...	OMIM:300863
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Hydrocephalus, Cleft palate, Anteriorly placed anus,...	OMIM:309801
Biotinidase Deficiency	Diffuse cerebral atrophy, Apnea, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Ata...	OMIM:253260
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Patent foramen ovale, ...	OMIM:618460
Pancreatitis, Hereditary	Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic i...	OMIM:167800
Spinocerebellar Ataxia 28	Cerebellar atrophy, Limb ataxia, Gait ataxia	OMIM:610246
Toriello-Carey Syndrome	Neonatal respiratory distress, Aganglionic megacolon, Micrognathia, Patent ductus arteriosus, Cle...	ORPHA:3338
3Q29 Microdeletion Syndrome	Hypospadias, Prominent nasal bridge, Patent ductus arteriosus, Horseshoe kidney, High palate, Gas...	ORPHA:65286
Stankiewicz-Isidor Syndrome	Ventricular septal defect, Patent ductus arteriosus, Truncus arteriosus, Cryptorchidism	OMIM:617516
Marfan Syndrome	Skeletal muscle atrophy, Mitral valve calcification, Spontaneous pneumothorax, Micrognathia, Abno...	ORPHA:558
Spinocerebellar Ataxia Type 42	Cerebellar atrophy, Psoriasiform dermatitis, Abnormal cerebellum morphology, Unsteady gait, Gait ...	ORPHA:458803
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina bifida occulta, Agenesi...	OMIM:618736
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Bulbous nose, Wide nasal bridge, Cleft palate, Abnormal heart morphology, Shor...	OMIM:618571
Amelocerebrohypohidrotic Syndrome	Abnormality of dental color, Short stature, Abnormal dental enamel morphology, Hydrocephalus, Yel...	ORPHA:1946
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Anteriorl...	OMIM:618748
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hydronephrosis, Pulmonic stenosis	OMIM:620141
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Depressed nasal bridge, Hypospadias, Anteverted nares, S...	OMIM:614613
Chromosome 18Q Deletion Syndrome	Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Cryp...	OMIM:601808
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Ataxia, Axonal degeneration, Limb ataxia, Gait ataxia, Truncal ataxia, Loss o...	OMIM:208920
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Relative macrocephaly, Short stature, Microcephaly, Asthma, Hydrocephalus, Gait disturbance, Dila...	ORPHA:500055
17Q12 Microduplication Syndrome	Atrial septal defect, Tracheoesophageal fistula, Cleft palate	ORPHA:261272
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Cerebellar vermis hypoplasia, Apnea, Ataxia, Hydrocephalus, Gait disturb...	ORPHA:1454
Biotinidase Deficiency	Respiratory distress, Apnea, Skin rash, Hearing impairment, Ataxia, Myelopathy, Sensorineural hea...	ORPHA:79241
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Ventricular septal defect, Holoprosencephaly, Anterior encephalocele	OMIM:601357
Tarp Syndrome	Apnea, Horseshoe kidney, Cleft palate, Tongue nodules, Glossoptosis, Pulmonary hypoplasia, Abnorm...	ORPHA:2886
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In...	OMIM:601678
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Cleft palate	OMIM:214300
Kapur-Toriello Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Intestinal malrotation	ORPHA:2328
White Forelock With Malformations	Atrial septal defect, Spina bifida occulta	ORPHA:2475
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila...	ORPHA:49041
Houge-Janssens Syndrome 3	Atrial septal defect, Muscular ventricular septal defect, High palate, Ventriculomegaly	OMIM:618354
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Abnormal dental enamel morphology, Hydrocephalus, Low-set ears, Macrocepha...	ORPHA:2180
Boucher-Neuhauser Syndrome	Spinocerebellar atrophy, Cerebellar atrophy, Ataxia, Gait ataxia	OMIM:215470
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Short stature, Micrognathia, Hydrocephalus, Cerebellar hypoplasia, Low-set ears, Intr...	ORPHA:163966
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Respiratory insufficiency, Renal cyst	ORPHA:2031
Spinocerebellar Ataxia 6	Cerebellar atrophy, Ataxia, Dysmetria, Progressive cerebellar ataxia, Truncal ataxia, Loss of amb...	OMIM:183086
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Cerebellar atrophy, Mandibular prognathia, Posteriorly rotated ears, Ataxia, Microcephaly, Promin...	OMIM:617804
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Cerebellar atrophy, Retrognathia, Short stature, Cerebral atrophy	OMIM:620269
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose	OMIM:137550
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
Dpm1-Cdg	Cerebellar atrophy, Ataxia, Micrognathia, Cerebral atrophy, Pontocerebellar atrophy, Secondary mi...	ORPHA:79322
Peroxisome Biogenesis Disorder 6B	Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Unsteady gait, Limb ataxia, Gait at...	OMIM:614871
Congenital Pulmonary Valvar Stenosis	Atrial septal defect	ORPHA:3189
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Cerebellar vermis hypoplasia, Micrognathia, Postnatal growth retardation, Inabili...	ORPHA:300570
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormality of the gastrointestinal tract, Ventricular septal defect, Bicuspid aortic valve, Gast...	ORPHA:453499
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Atrial septal defect, Frontal encephalocele	ORPHA:521308
Adult-Onset Cervical Dystonia, Dyt23 Type	Cerebellar atrophy, Unsteady gait, Difficulty walking, Cerebral cortical atrophy, Hyperventilation	ORPHA:420492
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Depressed nasal bridge, Penile freckling, Lymphoid nodular hyperplasia, Sho...	ORPHA:210548
3P25.3 Microdeletion Syndrome	Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Pyloric stenosis, Cleft...	ORPHA:435638
Chondrodysplasia, Blomstrand Type	Stillbirth, Preductal coarctation of the aorta	OMIM:215045
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Laryngeal edema, Upper airway obstruction, Pharyngeal edema	ORPHA:100057
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cerebellar vermis hypoplasia, Micrognathia, Lateral ventricle dilatation, Primary microcephaly, I...	ORPHA:284417
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Cerebellar atrophy, Neonatal respiratory distress, Short stature, Microcephaly, Cerebral atrophy,...	OMIM:618922
Cardiomyopathy, Dilated, 1Oo	Atrial septal defect, Dilated cardiomyopathy	OMIM:620247
Omenn Syndrome	Hypoproteinemia	OMIM:603554
Zaki Syndrome	Renal agenesis, Patent ductus arteriosus, High palate, Patent foramen ovale, Hydronephrosis	OMIM:619648
Lambotte Syndrome	Ventricular septal defect, Semilobar holoprosencephaly	OMIM:245552
Episodic Ataxia, Type 6	Cerebellar atrophy, Episodic ataxia, Cerebellar hypoplasia, Truncal ataxia	OMIM:612656
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Apnea, Ataxia, Microcephaly, Atrophy of the spinal cord, Hydrocephalus, Gait disturbance, Brain a...	ORPHA:395
Koolen-De Vries Syndrome	Ureteral duplication, Bicuspid aortic valve, Hypospadias, High, narrow palate, Pyloric stenosis, ...	ORPHA:96169
Waardenburg Syndrome Type 3	Tracheomalacia, Atrial septal defect, Atelectasis	ORPHA:896
Joubert Syndrome 37	Hepatomegaly, Micropenis, High palate, Hydronephrosis	OMIM:619185
Alpha-Mannosidosis, Adult Form	Cerebellar atrophy, Mixed hearing impairment, Ataxia, Pneumonia, Subcortical cerebral atrophy, Ce...	ORPHA:309288
Cornelia De Lange Syndrome 1	Ventricular septal defect, Hypospadias, Proteinuria, Ectopic kidney, Pneumonia, Abnormal renal mo...	OMIM:122470
Coccidioidomycosis	Respiratory distress, Broad skull, Morbilliform rash, Cough, Hypoglycorrhachia, Pneumonia, Erythe...	ORPHA:228123
Contractural Arachnodactyly, Congenital	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse...	OMIM:121050
Spinocerebellar Ataxia 36	Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia, Truncal ataxia, Hearing impairment	OMIM:614153
Addison Disease	Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia	ORPHA:85138
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Sensorineural hea...	OMIM:220110
Axenfeld-Rieger Syndrome, Type 2	Cryptorchidism, Hydrocephalus, Anal stenosis, Abnormal heart morphology	OMIM:601499
Fibrochondrogenesis 1	Short palm, Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Rhizomelia, Small han...	OMIM:228520
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Gait ataxia, Dysmetria, Hearing impairment	ORPHA:98771
Potocki-Lupski Syndrome	Atrial septal defect, High palate, Patent foramen ovale	OMIM:610883
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia	OMIM:612918
Lujan-Fryns Syndrome	Atrial septal defect, Macroorchidism, High palate	ORPHA:776
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Cerebellar atrophy, Micrognathia, Corpus callosum atrophy, Cerebral atrophy, Secondary microcepha...	OMIM:616875
Pontocerebellar Hypoplasia, Type 2B	Cerebellar atrophy, Cerebellar vermis hypoplasia, Microcephaly, Cerebral atrophy, Progressive mic...	OMIM:612389
Kaufman Oculocerebrofacial Syndrome	Neonatal respiratory distress, Ventricular septal defect, Depressed nasal bridge, Anteverted nare...	OMIM:244450
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Ventricular septal defect, Cryptorchidism, High palate, Atrial septal defect, Ventriculomegaly	OMIM:617452
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Chronic oral candidiasis, Chr...	ORPHA:83471
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Bardet-Biedl Syndrome 1	Aganglionic megacolon, High, narrow palate, Asthma, Short foot, High palate, Left ventricular hyp...	OMIM:209900
Erdheim-Chester Disease	Renal insufficiency, Dysuria, Abnormal pericardium morphology, Retroperitoneal fibrosis, Dyspnea,...	ORPHA:35687
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Cebalid Syndrome	Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Depressed nasal ridge,...	OMIM:618774
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Short nose, Micrognathia	ORPHA:1514
Acrodysostosis	Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Delayed eruption of teeth, Antev...	ORPHA:950
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coronary artery fistula, Neo...	OMIM:620024
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Hypoxemia, Atrial septal defect, Paten...	ORPHA:439
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly, Extra-axial cerebrospinal fluid accumulation, High palat...	OMIM:618798
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Ventricular septal defect, Hepatoblastoma, Miscarriage, Cryptorchidism, Pulmonary a...	ORPHA:96334
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Short metacarpal, Depressed nasal bridge, Hypospadias, Abnormal dental ena...	ORPHA:439822
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep...	ORPHA:3467
Ataxia-Telangiectasia-Like Disorder 1	Cerebellar atrophy, Ataxia, Unsteady gait, Dysmetria, Gait ataxia, Choreoathetosis, Dysdiadochoki...	OMIM:604391
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Camptodactyly of finger, Prominent nasal bridge, Underdeveloped nasal alae, ...	ORPHA:2083
Combined Oxidative Phosphorylation Deficiency 29	Cerebellar atrophy, Microcephaly, Axonal degeneration, Increased CSF lactate, Subependymal cysts,...	OMIM:616811
Xeroderma Pigmentosum, Complementation Group B	Cerebellar atrophy, Short stature, Ataxia, Microcephaly, Sensorineural hearing impairment, Ventri...	OMIM:610651
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Neonatal respiratory distress, Cardiomegaly, High, narrow palate, Hydrocephalus, He...	ORPHA:228308
Miller-Dieker Syndrome	Nephropathy, Short nose, Anteverted nares	ORPHA:531
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Left ventricular hypertrophy, Dilated cardiomyopathy	OMIM:618321
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Abnormal dentate nucleus morphology, Partial agenesis of the corpus callosum, Lateral ventricle d...	OMIM:619517
Coffin-Siris Syndrome 6	Atrial septal defect, High, narrow palate, Cleft palate	OMIM:617808
Presynaptic Congenital Myasthenic Syndromes	Microretrognathia, Waddling gait, Sudden episodic apnea, Ataxia, Intermittent episodes of respira...	ORPHA:98914
Congenital Myasthenic Syndrome	Microretrognathia, Waddling gait, Sudden episodic apnea, Ataxia, Intermittent episodes of respira...	ORPHA:590
X-Linked Parkinsonism-Spasticity Syndrome	Lateral ventricle dilatation, Dilated third ventricle, Scissor gait, Diffuse cerebral atrophy	ORPHA:363654
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Multiple pulmonary cysts, Hepatomegaly, Ventriculomegaly, Ventricular septal de...	OMIM:619418
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Cerebellar atrophy, Short stature, Ataxia, Microcephaly, Micrognathia, Inability to walk, Unstead...	OMIM:618443
Spastic Ataxia 5, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Dysdiadochokinesis	OMIM:614487
Slc35A1-Cdg	Respiratory distress, Pneumonia, Hypoxemia	ORPHA:238459
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Choanal atresia, Depressed nasal bridge, Missing ribs, Coronal hypospadias, Eso...	OMIM:619859
Combined Oxidative Phosphorylation Deficiency 27	Cerebellar atrophy, Microcephaly, Cerebral atrophy, Secondary microcephaly, Cerebellar hypoplasia...	OMIM:616672
Melnick-Needles Syndrome	Recurrent respiratory infections, Respiratory insufficiency, Abnormal cardiac septum morphology, ...	ORPHA:2484
Ferguson-Bonni Neurodevelopmental Syndrome	High palate, Patent foramen ovale, Coronary-pulmonary artery fistula	OMIM:619699
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Small bowel diverticula, Pyloric stenosis, Dilatation of th...	ORPHA:90349
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab...	ORPHA:402075
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Posteriorly rotated ears, Sensorineural hearing impairment, Unsteady gait, ...	OMIM:618733
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Hydronephrosis	OMIM:598500
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Cerebellar atrophy, Difficulty walking, Ataxia, Cerebral atrophy	ORPHA:527497
Achondroplasia	Rhizomelia, Hydrocephalus, Disproportionate short stature, Hypoxemia, Restrictive ventilatory def...	ORPHA:15
Immunodeficiency, Common Variable, 4	Recurrent pneumonia, Recurrent sinusitis	OMIM:613494
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Cerebellar atrophy, Apnea, Abnormal cerebellum morphology, Dysmetria, Gait ataxia, Secondary micr...	OMIM:618056
Genitopatellar Syndrome	Multicystic kidney dysplasia, Apnea, Gastroesophageal reflux, Pulmonary hypoplasia, Atrial septal...	ORPHA:85201
Spastic Paraplegia 20, Autosomal Recessive	Cerebellar atrophy, Short stature, Abnormal cerebellum morphology, Dysmetria, Difficulty walking,...	OMIM:275900
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Recurrent respiratory infections, Ventriculomegaly, Abnormal cerebral vascular morphology, Patent...	ORPHA:2637
Adenylosuccinase Deficiency	Cerebellar atrophy, Microcephaly, Inability to walk, Cerebral atrophy, Gait ataxia, Growth delay,...	OMIM:103050
Andersen-Tawil Syndrome	Renal tubular dysfunction, Dilated cardiomyopathy, Renal hypoplasia	ORPHA:37553
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect, Anteverted nares, Hypoplasia of teeth, Short nose, Retrognathia	OMIM:234050
Short Stature-Micrognathia Syndrome	Cerebellar atrophy, Rhizomelia, Short stature, Ataxia, Microcephaly, Micrognathia, Gait ataxia, I...	OMIM:617164
Coach Syndrome 1	Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ...	OMIM:216360
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Cerebellar atrophy, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficulty walking	ORPHA:529665
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Anal stenosis, Aganglionic megacolon, Broad nasal tip, Wide nasal bridge, Shortening of all dista...	OMIM:614207
Feingold Syndrome	Abnormality of the spleen, Patent ductus arteriosus, Esophageal atresia, Annular pancreas, Duoden...	ORPHA:1305
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Atrial septal defect, Hyposegmentation of neutrophil nuclei, Patent foramen ovale, Lateral ventri...	OMIM:620075
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Cutis Laxa, Autosomal Dominant 1	Ventricular septal defect, Dyspnea, Bronchiectasis, Emphysema, Convex nasal ridge, Peripheral pul...	OMIM:123700
Woods Syndrome	Ventricular septal defect	OMIM:615236
Fg Syndrome 5	Depressed nasal bridge, Hypospadias, Anteverted nares, Short nose	OMIM:300581
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Bicuspid aortic valve, Ventricular septal defect, Pyloric stenos...	ORPHA:457279
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Ataxia, Microcephaly	ORPHA:927
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebellar vermis hypoplasia, Hydrocephalus, Respiratory failure, Macrocephaly, Ventriculomegaly,...	OMIM:616538
Hughes-Stovin Syndrome	Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespiratory arrest, Cough, Pulm...	ORPHA:228116
Spinocerebellar Ataxia 47	Ataxia, Short stature, Dysmetria, Low-set ears, Cerebellar vermis atrophy	OMIM:617931
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hypoproteinemia, Elevated circulating creatine kinase concentration	OMIM:615895
Chromosome 14Q11-Q22 Deletion Syndrome	Depressed nasal bridge, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Wide n...	OMIM:613457
Prader-Willi Syndrome Due To Translocation	Narrow nasal bridge, Recurrent respiratory infections, Respiratory distress, Anteverted nares, Br...	ORPHA:177907
Varicose Veins	Varicose veins	OMIM:192200
Poikiloderma With Neutropenia	Depressed nasal bridge, Underdeveloped nasal alae, Micrognathia, Splenomegaly, Recurrent bronchop...	OMIM:604173
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Ataxia, Unsteady gait, Cerebral atrophy, Dysmetria	OMIM:619405
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Microcephaly, Micrognathia, Dyspnea, Growth delay, Respiratory failure, Ret...	ORPHA:2707
Joubert Syndrome 39	Hypopnea, Hypoplastic left heart, Polycystic kidney dysplasia	OMIM:619562
Fanconi Anemia	Leukopenia, Abnormality of the liver, High palate, Atrial septal defect, Spina bifida, Aplasia/Hy...	ORPHA:84
Esophageal Atresia	Respiratory distress, Bronchitis, Gastrointestinal dysmotility, Anorectal anomaly, Gastroesophage...	ORPHA:1199
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Ventricular septal defect, High, narrow palate, Recurrent pneumonia, Cleft palate, F...	ORPHA:464738
Mirage Syndrome	Cryptorchidism, Patent ductus arteriosus, Thrombocytopenia, Hydrocephalus, Esophageal stricture, ...	OMIM:617053
Intermediate Osteopetrosis	Hypocalcemia	ORPHA:210110
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, Recurrent upper respi...	OMIM:253220
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia...	OMIM:169400
Kaposi Sarcoma	Generalized lymphadenopathy, Venous insufficiency, Abnormality of the spleen, Abnormal lung morph...	ORPHA:33276
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect	ORPHA:93267
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Asthma, Recurrent pneumoni...	OMIM:102700
Kury-Isidor Syndrome	High palate, Ventricular septal defect, Hydronephrosis	OMIM:619762
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Acute respiratory distress syndrome, Severe B ly...	OMIM:620005
Sotos Syndrome	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Muscular ventricular septal ...	OMIM:117550
Van Maldergem Syndrome 1	Tracheomalacia, Hypospadias, Renal hypoplasia	OMIM:601390
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Renal dysplasia, Urinary bladder inflammation, Congenital pyloric atresia, He...	ORPHA:79403
Mandibuloacral Dysplasia With Type B Lipodystrophy	Prominent superficial veins, Narrow nasal ridge, Micrognathia, Flexion contracture, Stage 5 chron...	OMIM:608612
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Death in infancy, Ventricular septal defect, Dandy-Walker malformation, Death in childhood	OMIM:616901
Spinocerebellar Ataxia 15	Cerebellar atrophy, Truncal ataxia, Limb ataxia, Gait ataxia	OMIM:606658
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Carious teeth, Short stature, Low-set ears	OMIM:617102
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Congenital Enterovirus Infection	Respiratory distress, Skin rash, Myocarditis, Hepatitis, CSF lymphocytic pleiocytosis, Pleural ef...	ORPHA:292
Tetraamelia Syndrome 1	Asplenia, Hydrocephalus, Peripheral pulmonary vessel aplasia, Cleft palate, Pulmonary hypoplasia,...	OMIM:273395
Developmental And Epileptic Encephalopathy 18	Atrial septal defect	OMIM:615476
Shashi-Pena Syndrome	Dilation of Virchow-Robin spaces, Patent ductus arteriosus, Mild fetal ventriculomegaly, Atrial s...	OMIM:617190
Leukocyte Adhesion Deficiency	Sinusitis, Short stature, Pneumonia, Lymphocytic interstitial pneumonia, Microcephaly, Severe per...	ORPHA:2968
Hypotonia-Cystinuria Syndrome	Hypocalcemia	OMIM:606407
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Hepatomegaly, Scapular winging, Hip contracture, Limb joint contracture, Sh...	OMIM:620369
Ohdo Syndrome	Depressed nasal bridge, Anteverted nares, Proteinuria, Micrognathia, Wide nasal bridge, Hypoplasi...	OMIM:249620
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Micrognathia, Abnormal tricuspid valve morphology, Atrial septal defect, Mul...	ORPHA:1507
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Sensorineural hearing impairment, Short stature	ORPHA:3085
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Restrictive Dermopathy 2	Respiratory distress, Intrauterine growth retardation, Microretrognathia, Hypoplastic facial bones	OMIM:619793
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Atrophy of the spinal cord, Ataxia, Gait disturbance	OMIM:612020
Braddock-Carey Syndrome 1	Aortic valve prolapse, Ventricular septal defect, Cleft palate, Anteriorly placed anus, Thrombocy...	OMIM:619980
Fibrous Dysplasia Of Bone	Hypercalcemia, Hypophosphatemia	ORPHA:249
Thanatophoric Dysplasia, Type I	Neonatal respiratory distress, Hydrocephalus, Disproportionate short-limb short stature, Macrocep...	OMIM:187600
Srd5A3-Cdg	Cerebellar atrophy, Ataxia, Abnormal cerebellum morphology, Abnormal cerebellar vermis morphology...	ORPHA:324737
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Waddling gait, Restrictive ventilatory defect, Neonatal short-trunk short s...	OMIM:183900
Gjc2-Related Late-Onset Primary Lymphedema	Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ...	ORPHA:568051
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent skin infections, Chronic pulmonary obstruction, Recurrent pneumonia...	OMIM:616576
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Kapur-Toriello Syndrome	Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Patent ductus arteriosus, Clef...	OMIM:244300
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Patent ductus arteriosus, Hepatosplenomegaly, Macroglossia, High palate, Atrial septal defect	ORPHA:397709
Meckel Syndrome, Type 5	Renal cyst	OMIM:611561
Pfeiffer Syndrome Type 3	Respiratory distress, Aqueductal stenosis, Chiari malformation, Low-set ears, Laryngomalacia, Tra...	ORPHA:93260
Xanthinuria, Type I	Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis	OMIM:278300
Spinocerebellar Ataxia Type 10	Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiad...	ORPHA:98761
Alagille Syndrome 1	Duplicated collecting system, Ventricular septal defect, Multiple small medullary renal cysts, Ve...	OMIM:118450
Holoprosencephaly	Encephalocele, Median cleft lip and palate, Ventricular septal defect, Abnormal pulmonary valve m...	ORPHA:2162
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Lateral ventricle dilatation, Caudate atrophy, Gait disturbance, Cerebral atrophy	OMIM:221770
Fetal Valproate Spectrum Disorder	Short nose, Depressed nasal ridge	ORPHA:1906
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Cerebellar atrophy, Mandibular prognathia, Ataxia, Microcephaly, Loss of ability to walk in first...	OMIM:300243
Fragile X Tremor/Ataxia Syndrome	Cerebellar atrophy, Diffuse cerebral atrophy, Dysmetria, Gait ataxia, Impaired tandem gait, Dysdi...	OMIM:300623
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Cleft palate	ORPHA:261190
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Recurrent respiratory infections, Renal dysplasia, Patent ductus arteriosus...	OMIM:300968
Lymphatic Malformation 6	Splenomegaly, Intestinal lymphangiectasia, Varicose veins, Hydrocele testis, Chylothorax, Atrial ...	OMIM:616843
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Ventricular septal defect, Cryptorchidism, High palate, Atrial septal defect, Ventriculomegaly	ORPHA:505237
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Cerebral atrophy	OMIM:616521
Warburg Micro Syndrome 4	Cerebellar atrophy, Short stature, Inability to walk, Severe postnatal growth retardation, Second...	OMIM:615663
Short Stature And Facioauriculothoracic Malformations	High palate, Ventricular septal defect, Cleft palate	OMIM:609654
Weyers Ulnar Ray/Oligodactyly Syndrome	High palate, Hydronephrosis, Cleft palate	OMIM:602418
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Ventricular septal defect, Ventriculomegaly	OMIM:615879
Meckel Syndrome, Type 10	Micropenis, Hypospadias, Renal cyst	OMIM:614175
Gillespie Syndrome	Cerebellar atrophy, Ataxia, Cerebellar hypoplasia, Ventriculomegaly	OMIM:206700
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Cerebellar atrophy, Ataxia, Dysmetria, Dysdiadochokinesis, Cerebellar hypoplasia	ORPHA:313772
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Broad-based gait, Ataxia, Microcephaly, External ear malformation, Incisor ...	ORPHA:438216
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Hydrocephalus, Tracheoesophageal fistula, Coarctation of aorta, Trache...	ORPHA:268249
Wiskott-Aldrich Syndrome	Sinusitis, Epistaxis, Eczema, Keratitis, Dyspnea, Chronic pulmonary obstruction, Arthritis, Infla...	ORPHA:906
Spinocerebellar Ataxia 4	Cerebellar atrophy, Progressive cerebellar ataxia, Limb dysmetria	OMIM:600223
Muenke Syndrome	Malar flattening, Hydrocephalus, Sensorineural hearing impairment, Macrocephaly	ORPHA:53271
Mannosidosis, Alpha B, Lysosomal	Cerebellar atrophy, Mandibular prognathia, Corpus callosum atrophy, Sensorineural hearing impairm...	OMIM:248500
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Hip contracture, Flexion contracture of finger, Recurrent respiratory infe...	OMIM:193700
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Degeneration of anterior horn cells, Respiratory insufficiency	ORPHA:1145
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Desbuquois Syndrome	Ventricular septal defect	ORPHA:1425
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Cerebellar atrophy, Respiratory failure requiring assisted ventilation, Ataxia, Micrognathia, Rec...	ORPHA:496641
Femoral-Facial Syndrome	Long penis, Abnormal localization of kidney, Polycystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:1988
Developmental And Epileptic Encephalopathy 48	Cerebellar atrophy, Cerebral atrophy, Microcephaly	OMIM:617276
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronephrosis	OMIM:617913
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy	ORPHA:53296
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:353281
Fibrochondrogenesis 2	Anteverted nares, Micrognathia, Short ribs, Malar flattening, Short nose	OMIM:614524
Diamond-Blackfan Anemia 10	Respiratory distress, Short stature, Posteriorly rotated ears, Micrognathia, Growth delay, Microt...	OMIM:613309
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Delayed eruption of teeth, Short stature, Ataxia, Microcephaly, Seborrheic de...	OMIM:301072
Van Maldergem Syndrome 2	Tracheomalacia, Micropenis, Hypospadias, Renal hypoplasia	OMIM:615546
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Elevated circulating aspartate aminotransferase concentration, Intr...	OMIM:617093
Generalized Pustular Psoriasis	Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration	ORPHA:247353
Serkal Syndrome	Malrotation of small bowel, Ventricular septal defect, Pulmonary hypoplasia, Pulmonic stenosis	ORPHA:139466
Medulloblastoma	Ataxia, Cerebellar calcifications, Hydrocephalus, Progressive macrocephaly, Dysmetria, Progressiv...	ORPHA:616
King-Denborough Syndrome	Bilateral cryptorchidism, Cryptorchidism, High palate, Ventricular septal defect	OMIM:619542
Superficial Siderosis	Cerebellar atrophy, Enlarged sylvian cistern, Ataxia, Abnormal cerebrospinal fluid morphology, At...	ORPHA:247245
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Respiratory insufficiency, Renal hypoplasia, Renal cyst	OMIM:616300
Hurler Syndrome	Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Hydrocephalus, Enlarged tonsils, He...	OMIM:607014
Marshall-Smith Syndrome	Apnea, Anteriorly placed anus, Glossoptosis, Choanal stenosis, High palate, Aspiration pneumonia,...	OMIM:602535
15Q Overgrowth Syndrome	Low-set, posteriorly rotated ears, Mandibular prognathia, Mixed hearing impairment, Microretrogna...	ORPHA:314585
Autosomal Recessive Malignant Osteopetrosis	Recurrent respiratory infections, Hepatomegaly, Apnea, Abnormal pulmonary valve morphology, Splen...	ORPHA:667
Opsismodysplasia	Hepatomegaly, Recurrent respiratory infections, Depressed nasal bridge, Splenomegaly, Respiratory...	ORPHA:2746
19P13.12 Microdeletion Syndrome	Ventricular septal defect, Cryptorchidism, Cleft palate, Atrial septal defect, Hepatic steatosis,...	ORPHA:254346
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy	Cerebellar atrophy, Limb ataxia, Truncal ataxia	OMIM:617560
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Scapular winging, Hypospadias, Abnormal pulmonary valve morpholo...	ORPHA:500
Geleophysic Dysplasia 2	Hepatomegaly, Mitral stenosis, Tricuspid stenosis, Respiratory insufficiency, Mitral valve prolap...	OMIM:614185
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Respiratory distress, Renal cyst, Gastrointestinal inflammation, Aplasia/Hypo...	ORPHA:79404
Episodic Ataxia Type 6	Cerebellar atrophy, Ataxia	ORPHA:209967
Nabais Sa-De Vries Syndrome, Type 1	Neonatal respiratory distress, Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Vesi...	OMIM:618828
Adams-Oliver Syndrome 1	Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Cleft...	OMIM:100300
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Recurrent respiratory infections, Anteverted nares, Hypospadias, Cleft soft palate, Micrognathia,...	ORPHA:2282
Spinocerebellar Ataxia, Autosomal Recessive 7	Cerebellar atrophy, Ataxia, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia	OMIM:609270
Gm1 Gangliosidosis	Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Patent ductus arterios...	ORPHA:354
Chromosome 3Pter-P25 Deletion Syndrome	Atrioventricular canal defect	OMIM:613792
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Hypospadias, Renal agenesis...	ORPHA:508498
Rauch-Steindl Syndrome	Hyperechogenic kidneys, Bilateral renal hypoplasia	OMIM:619695
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Ventricular septal defect, Cryptorchidism, Patent ductus arteri...	OMIM:609942
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Cleft palate, Oligosacchariduria, Hemiatr...	ORPHA:163649
Autosomal Recessive Omodysplasia	Depressed nasal bridge, Anteverted nares, Micromelia, Micrognathia, Rhizomelia, Hypoplastic dista...	ORPHA:93329
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Depressed nasal bridge, Anteverted nares, Aplastic clavicle, Micro...	ORPHA:50945
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Relative macrocephaly, Respiratory failure, Respiratory distress, Low-set ears	OMIM:617895
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Macroorchidism, Ventricular septal defect, Ascending tubular aorta aneurysm, High palate, Atrial ...	OMIM:309520
Orofaciodigital Syndrome V	Recurrent respiratory infections, Unilateral cryptorchidism, Ventricular septal defect, Hamartoma...	OMIM:174300
Combined Oxidative Phosphorylation Deficiency 3	Hepatomegaly, Death in infancy, Dyspnea, Patent ductus arteriosus, Dilated cardiomyopathy, Concen...	OMIM:610505
Spastic Paraplegia Type 7	Cerebellar atrophy, Spastic gait, Cerebral cortical atrophy	ORPHA:99013
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve	OMIM:617450
Hydrolethalus Syndrome 1	Complete atrioventricular canal defect, Ventricular septal defect	OMIM:236680
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Multiple joint contractures, Micrognathia, High palate, Depressed nasal bri...	ORPHA:536467
Spinocerebellar Ataxia Type 13	Cerebellar atrophy, Short stature, Limb ataxia, Gait ataxia, Difficulty walking, Hearing impairment	ORPHA:98768
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Short nose, Depressed nasal bridge, Hypospadias	OMIM:616910
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	High, narrow palate, Recurrent pneumonia, Mitral valve prolapse, Restrictive ventilatory defect, ...	ORPHA:1900
Focal Dermal Hypoplasia	Acute hepatic failure, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/...	ORPHA:2092
Cryptococcosis	Respiratory distress, Osteomyelitis, Pneumonia, Dyspnea, Hydrocephalus, Peritonitis, Cough, Pleur...	ORPHA:1546
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, High, narrow palate, Hydrocephalus, Mitral valve prolapse, Aortic ...	OMIM:616914
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Natal tooth, Posteriorly rotated ears, Hydrocephalus, Chiari malformation, ...	OMIM:123790
Tay-Sachs Disease	Cerebellar atrophy, Ventriculomegaly, Inability to walk, Progressive macrocephaly, Dysmetria, Gai...	ORPHA:845
Infant Acute Respiratory Distress Syndrome	Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Anteverted nares, Facial palsy, Aplasia/Hypoplasia of the tongue, Microg...	ORPHA:1358
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Patent ductus arteriosus, Mitral valve prolapse, High palate, Ureteral triplication, Hydronephrosis	OMIM:104350
Shwachman-Diamond Syndrome	Delayed eruption of teeth, Sinusitis, Short stature, Eczema, Pneumonia, Skin rash, Osteomyelitis,...	ORPHA:811
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect, Bilateral cryptorchidism, Patent ductus arteriosus, Recurrent pneumoni...	OMIM:300472
Jacobsen Syndrome	Recurrent respiratory infections, Ventricular septal defect, Depressed nasal bridge, Anteverted n...	OMIM:147791
Visceral Myopathy 1	Aganglionic megacolon, Intestinal pseudo-obstruction, Microcolon, Megacystis, Hydronephrosis, Uri...	OMIM:155310
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebellar atrophy, Waddling gait, Short stature, Ataxia, Microcephaly, Inability to walk, Cerebr...	OMIM:615356
B4Galt1-Cdg	Inflammatory abnormality of the skin, Hydrocephalus, Cerebellar hypoplasia, Low-set ears, Dandy-W...	ORPHA:79332
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Intestinal fistula, Functional intestinal obstruction, Tricuspid s...	ORPHA:100078
Combined Oxidative Phosphorylation Deficiency 39	Cerebellar atrophy, Microcephaly, Cerebral atrophy, Increased CSF lactate, Intrauterine growth re...	OMIM:618397
Lymphangioleiomyomatosis	Recurrent respiratory infections, Dyspnea, Atelectasis, Pneumothorax, Abnormality of the lymphati...	ORPHA:538
Combined Oxidative Phosphorylation Defect Type 29	Axonal degeneration, Increased CSF lactate, Subependymal cysts, Neurodegeneration, Primary microc...	ORPHA:478029
Marfan Syndrome	Decreased muscle mass, Bicuspid aortic valve, Micrognathia, Flexion contracture, Mitral annular c...	OMIM:154700
Neurodevelopmental Disorder With Language Delay And Seizures	Cryptorchidism, Ventricular septal defect	OMIM:619908
Leukodystrophy, Hypomyelinating, 11	Cerebellar atrophy, Ataxia	OMIM:616494
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proxima...	OMIM:231680
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Hypos...	OMIM:301040
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Ventriculomegaly, Apnea, Abnormal lung lobation, Cleft palate, Coarctation ...	ORPHA:1052
Oculopharyngodistal Myopathy 1	Respiratory distress, Ataxia, Hypercapnia, Reduced forced vital capacity, Respiratory insufficien...	OMIM:164310
Koolen-De Vries Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Bicuspid aortic valve, Pyloric ste...	OMIM:610443
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal...	OMIM:613159
X-Linked Intellectual Disability, Wilson Type	Growth delay, Lateral ventricle dilatation, Mandibular prognathia, Microcephaly	ORPHA:85290
Walker-Warburg Syndrome	Ventriculomegaly, Posteriorly rotated ears, Microcephaly, Hydrocephalus, Protruding ear, Cerebell...	ORPHA:899
Carnitine Palmitoyltransferase Ii Deficiency	Neonatal respiratory distress, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epi...	ORPHA:157
Smith-Magenis Syndrome	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Delayed eruption of primary teet...	ORPHA:819
Diamond-Blackfan Anemia 5	Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia	OMIM:612528
Intellectual Developmental Disorder, Autosomal Recessive 71	Cryptorchidism, Ventricular septal defect	OMIM:618504
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic dermatitis, Recurrent sinusitis, C...	ORPHA:217390
Ulnar-Mammary Syndrome	Hypoplasia of penis, Ventricular septal defect, Renal hypoplasia	ORPHA:3138
Intellectual Disability, Buenos-Aires Type	Abnormal cardiac septum morphology, High palate, Hydronephrosis	ORPHA:3079
Developmental And Epileptic Encephalopathy 51	Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Increased CSF lactate, Cerebral c...	OMIM:617339
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:2182
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Rhizomelia, Stillbirth, Low-set ears, Macrocephaly, Neonatal short-limb sho...	OMIM:151210
Spinocerebellar Ataxia 32	Cerebellar atrophy, Ataxia	OMIM:613909
Chitayat Syndrome	Respiratory distress, Short stature, Tracheomalacia	OMIM:617180
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Muscular ventricular septal defect, Hypoplastic aortic arch, Dysplasti...	OMIM:157800
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Dyspnea, Lacticaciduria, Cardiorespiratory arrest, Abnormal heart morphology, ...	ORPHA:26791
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Galloway-Mowat Syndrome 10	Cerebellar atrophy, Microcephaly, Cerebral atrophy, Secondary microcephaly, Primary microcephaly	OMIM:619609
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cerebellar atrophy, Sensorineural hearing impairment, Ataxia, Dysmetria	OMIM:612674
Rere-Related Neurodevelopmental Syndrome	Cryptorchidism, Ventricular septal defect, Ventriculomegaly, Abnormal heart morphology	ORPHA:494344
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Osteomyelitis, Persistence of primary teeth, Mandibular osteomyelitis, Car...	OMIM:259710
Primary Dystonia, Dyt4 Type	Respiratory distress, Dysdiadochokinesis, Gait disturbance	ORPHA:98805
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve	OMIM:619721
Paganini-Miozzo Syndrome	Mandibular prognathia, Posteriorly rotated ears, Lateral ventricle dilatation, Microtia, Low-set ...	OMIM:301025
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Depressed nasal bridge, Anteverted nares, Bulbous nose, M...	OMIM:614105
Jacobsen Syndrome	Recurrent respiratory infections, Multicystic kidney dysplasia, Anteverted nares, Ventricular sep...	ORPHA:2308
Familial Paroxysmal Ataxia	Ataxia, Tinnitus, Cerebellar vermis atrophy	ORPHA:97
Spinocerebellar Ataxia Type 32	Cerebellar atrophy, Progressive cerebellar ataxia	ORPHA:276183
Intellectual Developmental Disorder, Autosomal Dominant 65	Posteriorly rotated ears, Ataxia, Micrognathia, Noncommunicating hydrocephalus, Low-set ears, Mac...	OMIM:619320
Trisomy 12P	Micrognathia, Wide nasal bridge, Cleft palate, Malar flattening, Short nose, Anal atresia	ORPHA:1699
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Short nose, Short nasal septum, Short distal phalanx of finger	OMIM:302950
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Decreased muscle mass, Anteverted nares, Broad nasal tip, Carious teeth, Emphysema, Prominent vei...	ORPHA:357074
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Medial calcification of large arteries, T lymphocytopenia, Patent foramen ovale,...	ORPHA:391487
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Hydrocephalus, Tachypnea, Cleft palate, St...	ORPHA:137675
Bilateral Polymicrogyria	Cerebellar atrophy, Micrognathia, Sensorineural hearing impairment, Cerebellar ataxia associated ...	ORPHA:268940
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus, Gait disturbance	ORPHA:2181
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Bulbous nose, Gastroesophageal reflux, Wide nasal bridge, Short nose	OMIM:620292
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Protein-losing enteropathy, ...	OMIM:619991
Peho Syndrome	Cerebellar atrophy, Neuronal loss in central nervous system, Retrognathia, Progressive microcephaly	OMIM:260565
Absent Eyebrows And Eyelashes With Mental Retardation	Short nose, Convex nasal ridge	OMIM:200130
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cerebellar atrophy, Abnormal pinna morphology, Ataxia, Microcephaly, Cerebral atrophy, Protruding...	OMIM:615471
Cooper-Jabs Syndrome	Anteriorly placed anus, Ventricular septal defect, Respiratory insufficiency	ORPHA:1488
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Cerebellar atrophy, Low-set ears, Cerebral atrophy, Microcephaly	OMIM:619286
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Right aortic arch, Ventricular septal defect, Tracheomalacia	ORPHA:513456
Jaberi-Elahi Syndrome	Broad-based gait, Microcephaly, Inability to walk, Dysmetria, Protruding ear, Choreoathetosis, Ga...	OMIM:617988
Coffin-Siris Syndrome 7	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve	OMIM:618027
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Hypoplasia of the zygomatic bone, Malar flattening, Short nose, Depressed nasal bridge	ORPHA:2835
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Short stature, Lower limb dysmetria, Micrognathia, Hydrocephalus, Protruding ear, Abno...	ORPHA:363700
Cole-Carpenter Syndrome 2	Microretrognathia, Short stature, Postnatal growth retardation, Hydrocephalus, Macrocephaly, Dent...	OMIM:616294
Werner Syndrome	Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Pulmonary artery stenosis, Small ...	ORPHA:902
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Cerebellar atrophy, Mandibular prognathia, Posteriorly rotated ears,...	OMIM:617011
Autosomal Dominant Optic Atrophy, Classic Form	Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Sensorineural hearing impairment, Gait distu...	ORPHA:98673
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Trichohepatoenteric Syndrome 1	Hepatomegaly, Villous atrophy, Ventricular septal defect, Increased mean platelet volume, Abnorma...	OMIM:222470
Macrocephaly/Autism Syndrome	Hepatomegaly, Dilation of Virchow-Robin spaces, Depressed nasal bridge, Penile freckling, Splenom...	OMIM:605309
Griscelli Syndrome	Encephalocele, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hydrocephalus, P...	ORPHA:381
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Hydrocele testis, Patent foramen ovale	OMIM:618832
Dermotrichic Syndrome	Aganglionic megacolon, Short nose, Aminoaciduria, Depressed nasal bridge	ORPHA:99688
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Wide nose, Ventricular septal defect, Prominent nasal bridge, Micrognathia, Dental malocclusion, ...	ORPHA:251028
Hydrolethalus	Low-set, posteriorly rotated ears, Micrognathia, Hydrocephalus, Anencephaly, Low-set ears, Laryng...	ORPHA:2189
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation	OMIM:300982
Char Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:46627
Nasu-Hakola Disease	Hydrocephalus, Cerebral cortical atrophy, Ventriculomegaly	ORPHA:2770
Metatropic Dysplasia	Low-set, posteriorly rotated ears, Hydrocephalus, Severe short stature	ORPHA:2635
Diamond-Blackfan Anemia 12	Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia	OMIM:615550
Noonan Syndrome 4	Ureteral duplication, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr...	OMIM:610733
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Recurrent respiratory infections, Ventricular septal defect, High, narrow palate, Hydrocephalus, ...	OMIM:619575
Fanconi Anemia, Complementation Group D2	Pancytopenia, Cryptorchidism, Patent ductus arteriosus, Thrombocytopenia, Hydrocephalus, Reticulo...	OMIM:227646
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Gait disturbance	OMIM:236690
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Hydrocephalus, Senso...	ORPHA:87
Mevalonic Aciduria	Cerebellar atrophy, Agenesis of cerebellar vermis, Short stature, Posteriorly rotated ears, Skin ...	OMIM:610377
Pancreatic Agenesis 2	Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Steatorrhea, Pancreatic aplasia	OMIM:615935
L1 Syndrome	Aqueductal stenosis, Hydrocephalus, Gait disturbance	ORPHA:275543
Pearson Syndrome	Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomegaly, Cardiomy...	ORPHA:699
Intellectual Developmental Disorder, Autosomal Dominant 47	Cryptorchidism, Ventricular septal defect	OMIM:617635
Fryns Syndrome	Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Ventricular septal defect, Renal ag...	OMIM:229850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle dilatation, C...	OMIM:613154
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Abnormal pinna morphology, Rhizomelia, Sensorineural hearing impairment, Re...	OMIM:607143
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Skeletal muscle atrophy, Wide nose, Anteverted nares, Abnormal large intest...	ORPHA:109
Spastic Ataxia, Charlevoix-Saguenay Type	Progressive truncal ataxia, Spastic ataxia, Ataxia, Loss of Purkinje cells in the cerebellar verm...	OMIM:270550
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Vesicoureteral reflux, Hydronephrosis, Cleft palate	OMIM:618265
Raine Syndrome	Mandibular prognathia, Natal tooth, Hydroureter, Depressed nasal bridge, Choanal atresia, Microme...	OMIM:259775
Leigh Syndrome	Cerebellar atrophy, Ataxia, Eczema, Sensorineural hearing impairment, Increased CSF lactate, Grow...	ORPHA:506
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebellar atrophy, Ataxia, Abnormal cerebrospinal fluid morphology, Sensorineural hearing impair...	ORPHA:314404
Degcags Syndrome	Prominent nose, Micrognathia, Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, High palate,...	OMIM:619488
Noonan Syndrome 5	Atrial septal defect, Cryptorchidism, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:611553
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Atrial septal defect, Atrioventricular canal defect, Hepatic...	OMIM:619573
Listeriosis	Respiratory distress, Pericarditis, Osteomyelitis, Ataxia, Pneumonia, Pustule, Myocarditis, Perit...	ORPHA:533
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Atrial septal defect, Dilation of Virchow-Robin spaces, Bicuspid aortic valve, Ventriculomegaly	OMIM:619720
Cystic Fibrosis	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Asthma, Recurrent ...	OMIM:219700
Tetrasomy 12P	Delayed eruption of teeth, Anteverted nares, Abnormal soft palate morphology, Short nose, Anal at...	ORPHA:884
Cystic Echinococcosis	Asthma, Renal cyst, Abnormal heart morphology, Membranous nephropathy, Ovarian cyst, Hepatic cysts	ORPHA:400
Developmental And Epileptic Encephalopathy 95	Cerebellar atrophy, Posteriorly rotated ears, Ataxia, Microcephaly, Hypoplasia of the pons, Inabi...	OMIM:618143
Neonatal Inflammatory Skin And Bowel Disease	Left ventricular hypertrophy, Recurrent gastroenteritis, Anal fissure, Perianal dermatitis	ORPHA:294023
Hemangioblastoma	Cerebellar edema, Hydrocephalus, Cerebellar hemangioblastoma	ORPHA:252054
Constricting Bands, Congenital	Encephalocele, Ectopia cordis, Abnormal lung lobation, Cleft palate	OMIM:217100
Lymphatic Malformation 13	Patent ductus arteriosus, Hydrocele testis, Neonatal death, Atrial septal defect, Pulmonary arter...	OMIM:620244
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Intestinal malrotation, Hiatus hernia, Abnormality of the spleen, Esophageal atresi...	ORPHA:2538
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Progressive cerebellar ataxia, Cerebellar vermis atrophy, Gait ataxia	ORPHA:466794
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:353277
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Wide nasal bridge, Narrow palate, Hypoplasia of teeth, Gastroesophageal reflux, Sho...	OMIM:620250
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Depressed nasal bridge, Bulbous nose, Macroglossia, Gastroesophageal reflu...	ORPHA:261144
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Ataxia, Pulmonary embolism, Microcephaly, Atrophy of the spinal cord, Hydro...	ORPHA:79282
Familial Multiple Nevi Flammei	Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage, Pulmonary embolism	ORPHA:624
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	High palate, Patent ductus arteriosus, Ventricular septal defect, Cleft palate	ORPHA:52055
Oculodentodigital Dysplasia	Narrow nasal bridge, Neurogenic bladder, Anteverted nares, Underdeveloped nasal alae, Carious tee...	OMIM:164200
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Aplasia of the nasal bone, Prominent superficial veins, Prominent nasa...	OMIM:601812
Alg2-Cdg	Lateral ventricle dilatation, Microcephaly	ORPHA:79326
Chromosome 16P13.3 Duplication Syndrome	Wide nose, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Facial hypotonia,...	OMIM:613458
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Orotic Aciduria	Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res...	OMIM:258900
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Hydrocephalus, Aplasia/Hypoplasia of the earlobes, Hypoplasia of the zygoma...	ORPHA:1555
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Hepatomegaly, Abnormal mitral valve morphology, Abnormal heart valve...	ORPHA:580
Smith-Lemli-Opitz Syndrome	Gastrointestinal dysmotility, Abnormal lung lobation, Renal cyst, Gastroesophageal reflux, Atrial...	OMIM:270400
Cutis Laxa, Autosomal Recessive, Type Iib	Malar flattening, Microcephaly, Hydrocephalus, Protruding ear, Intrauterine growth retardation, A...	OMIM:612940
Leukodystrophy, Hypomyelinating, 10	Skeletal muscle atrophy, Anteverted nares, Bulbous nose, Malar flattening, Short nose	OMIM:616420
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect, Intestinal malrotation, Gastrointestinal dysmotility, Micropenis, Hydr...	OMIM:617798
Trisomy 10P	Decreased muscle mass, Depressed nasal bridge, Anteverted nares, Abnormality of the nose, Microgn...	ORPHA:171929
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Glossoptosis, High palate, Gastroesophageal reflux, Aspiration pneumonia, Vesicoure...	ORPHA:444077
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilic infiltration of the esophagus, Asthma, Recurrent pneumonia, Bronchiectasis, ...	OMIM:243700
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Anteverted nares, Camptodactyly of finger, Long nose, Bulbous nose, Absent nas...	ORPHA:261211
Waardenburg Syndrome Type 2	Abnormality of the pulmonary artery, Aganglionic megacolon	ORPHA:895
Oculodentodigital Dysplasia	Narrow nasal bridge, Mandibular prognathia, Neurogenic bladder, Anteverted nares, Ventricular sep...	ORPHA:2710
16P13.11 Microdeletion Syndrome	Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Cle...	ORPHA:261236
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Varicose veins, Chylothorax, T...	OMIM:153400
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect, Esophageal atresia, Cleft soft palate	OMIM:614526
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94089
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Prominent nose, Micrognathia, Bulbous nose, Depressed nasal ridge, Micrope...	OMIM:156200
Phakomatosis Pigmentokeratotica	Unilateral renal hypoplasia, Nephroblastoma, Renal transitional cell carcinoma	ORPHA:2874
Leukodystrophy, Hypomyelinating, 20	Cerebellar atrophy, Progressive microcephaly	OMIM:619071
Machado-Joseph Disease	Dilated fourth ventricle, Cerebellar atrophy, Ataxia, Limb ataxia, Progressive cerebellar ataxia,...	OMIM:109150
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Chiari malformation, Macrocephaly, Aplasia/Hypoplasia of the cerebellum, Ventricul...	ORPHA:60040
Meester-Loeys Syndrome	Mitral valve prolapse, Ascending tubular aorta aneurysm, Dilatation of the cerebral artery, Aorti...	OMIM:300989
Cockayne Syndrome Type 1	Increased blood urea nitrogen	ORPHA:90321
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Cerebral atrophy	ORPHA:329284
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Low-set, posteriorly rotated ears, Respiratory insufficiency, Microg...	ORPHA:1237
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Cleft palate, Abnormal heart m...	ORPHA:404440
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Atrial septal defect, Hydrocephalus, Upper airway obstruction	OMIM:207410
Spinocerebellar Ataxia 10	Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadoc...	OMIM:603516
Bainbridge-Ropers Syndrome	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Broa...	OMIM:615485
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Pulmonary...	ORPHA:369929
Congenital Disorder Of Glycosylation, Type Ib	Proximal tubulopathy, Renal cyst	OMIM:602579
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Microcephaly, Hydrocephalus, Microtia, Hypoplasia of th...	OMIM:613603
Pontocerebellar Hypoplasia, Type 8	Ventricular septal defect, Patent foramen ovale	OMIM:614961
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Respiratory insufficiency due to muscle weakness, Nephrolithia...	ORPHA:18
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo...	ORPHA:103918
Kabuki Syndrome 2	Cleft palate, Coarctation of aorta, High palate, Pulmonic stenosis, Atrial septal defect, Atriove...	OMIM:300867
Spondyloenchondrodysplasia	Delayed eruption of teeth, Abnormal lateral ventricle morphology, Short stature, Pneumonia, Skin ...	ORPHA:1855
Eisenmenger Syndrome	Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Sup...	ORPHA:97214
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Venous insufficiency, Lymphangioma, Arteriovenous malformation, Ovarian neoplasm	ORPHA:137608
Spinocerebellar Ataxia, Autosomal Recessive 21	Limb ataxia, Cerebellar vermis atrophy, Gait ataxia	OMIM:616719
Kinsship Syndrome	Respiratory arrest, Renal hypoplasia, Horseshoe kidney	OMIM:619297
17Q23.1Q23.2 Microdeletion Syndrome	Atrial septal defect, Dyspnea, Patent ductus arteriosus, Pulmonary arterial hypertension	ORPHA:261279
Costello Syndrome	Atrial septal defect, Ventricular septal defect, Pyloric stenosis, Hydrocephalus, Pneumothorax, R...	OMIM:218040
Episodic Ataxia, Type 2	Episodic ataxia, Progressive cerebellar ataxia, Tinnitus, Cerebellar vermis atrophy	OMIM:108500
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Cerebellar atrophy, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Hydrocephalus, Cerebr...	OMIM:618590
Gillessen-Kaesbach-Nishimura Syndrome	Polycystic kidney dysplasia, Abnormal heart morphology	OMIM:263210
Orofaciodigital Syndrome I	Hamartoma of tongue, Pancreatic cysts, Vascular dilatation, Myelomeningocele, Hydrocephalus, Clef...	OMIM:311200
Noonan Syndrome 7	Atrial septal defect, Hypertrophic cardiomyopathy, Abnormal esophagus morphology, Pulmonic stenosis	OMIM:613706
Chédiak-Higashi Syndrome	Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia	ORPHA:167
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Short stature, Apnea, Eczema, Microcephaly, Delayed eruption of primary teeth...	OMIM:617799
Glutaric Acidemia I	Choreoathetosis, Hydrocephalus, Lateral ventricle dilatation, Macrocephaly	OMIM:231670
Nasolacrimal Duct Cyst	Intercostal retractions, Chronic irritative conjunctivitis, Episodic respiratory distress, Strido...	ORPHA:141083
Congenital Diaphragmatic Hernia	Respiratory distress, Hypoxemia	ORPHA:2140
Shukla-Vernon Syndrome	Cerebellar atrophy, Broad-based gait	OMIM:301029
Familial Or Sporadic Hemiplegic Migraine	Cerebellar atrophy, CSF pleocytosis, CSF lymphocytic pleiocytosis, Progressive gait ataxia, Incre...	ORPHA:569
7Q31 Microdeletion Syndrome	Atrial septal defect, Recurrent respiratory infections, Asthma, Patent ductus arteriosus after bi...	ORPHA:251061
Non-Distal Duplication 13Q	Short nose, High palate, Micrognathia	ORPHA:1702
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebellar atrophy, Low-set, posteriorly rotated ears, Microretrognathia, Severe short stature, E...	ORPHA:468631
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation, Microcephaly	OMIM:618890
Developmental And Epileptic Encephalopathy 31B	Colpocephaly, Secondary microcephaly, Brain atrophy, Low-set ears, Agenesis of corpus callosum, V...	OMIM:620352
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Partial agenesis of the corpus callosum, Hydrocephalus, Retrognathia, Microtia, Ce...	OMIM:614643
Immunodeficiency 49	Natal tooth, Pulmonary artery stenosis, Micrognathia	OMIM:617237
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormal vena cava morphology, Ventricular septal defect, Cryptorchidism	ORPHA:166035
Oculocerebral Hypopigmentation Syndrome, Preus Type	Short stature, Ataxia, Hydrocephalus, Aplasia/Hypoplasia of the cerebellum, Hearing impairment	ORPHA:2720
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocard...	OMIM:261740
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Prominent nose, Hy...	OMIM:619268
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Mandibular prognathia, Microcephaly, Dysplastic corpus callosum, Partial agen...	OMIM:619103
Meier-Gorlin Syndrome 6	Microretrognathia, Recurrent respiratory infections, Anteverted nares, Depressed nasal bridge, Un...	OMIM:616835
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Short nose	OMIM:300143
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Hydrocephalus, Abnormal mast cell morphology, Cleft palate	ORPHA:398189
Cockayne Syndrome Type 3	Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Renal hypoplasia...	ORPHA:90324
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Spastic Paraplegia 79B, Autosomal Recessive	Cerebellar atrophy, Ataxia, Cerebral atrophy, Dysmetria, Neurodegeneration, Loss of ambulation	OMIM:615491
Oculocerebrocutaneous Syndrome	External ear malformation, Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation, Abnor...	ORPHA:1647
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Abnormal heart morphology	ORPHA:254534
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Short fifth metatarsal, Ventricul...	OMIM:134780
Dural Sinus Malformation	Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Hydrocephalus, S...	ORPHA:97339
Proteus-Like Syndrome	Communicating hydrocephalus, Thymus hyperplasia, Venous insufficiency, Splenomegaly, Hydrocephalu...	ORPHA:2969
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Cryptorchidism, Cleft palate, High palate, Holoprosencephaly, Pulmonar...	OMIM:612530
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Abnormality of the urethra, Congenital pyloric atresia, Aplasia of the bladder, ...	ORPHA:158684
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Varicose veins, Venous malformation	OMIM:613089
Osteogenesis Imperfecta, Type X	Relative macrocephaly, Respiratory distress, Rhizomelia, Short stature, Micrognathia, Recurrent p...	OMIM:613848
19P13.3 Microduplication Syndrome	Unilateral cryptorchidism, Pulmonary arterial hypertension, Ventricular septal defect, Cleft palate	ORPHA:447980
Chromosome 9P Deletion Syndrome	Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Narrow palate, Perimemb...	OMIM:158170
Mercury Poisoning	Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Developmental And Epileptic Encephalopathy 49	Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Hydrocephalus, Macrotia, ...	OMIM:617281
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Pneumonia, Splenomegaly, Hydrocephalus, Recurrent upper respiratory tract infection...	OMIM:253200
Spinocerebellar Ataxia 21	Cerebellar atrophy, Ataxia, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia	OMIM:607454
Telangiectasia, Hereditary Hemorrhagic, Type 4	Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebral arteriovenous malformation,...	OMIM:610655
Nocardiosis	Respiratory distress, Pericarditis, Osteomyelitis, Pneumonia, Productive cough, Keratitis, Nonpro...	ORPHA:31204
Takenouchi-Kosaki Syndrome	Cerebellar atrophy, Posteriorly rotated ears, Ataxia, Sensorineural hearing impairment, Dental ma...	OMIM:616737
Farber Disease	Respiratory distress, Short stature, Recurrent upper respiratory tract infections, Respiratory in...	ORPHA:333
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Left ventricular noncompaction ca...	OMIM:611878
Osteopathia Striata With Cranial Sclerosis	Atrial septal defect, Anal stenosis, Apnea, Ventricular septal defect, Intestinal malrotation, Pa...	OMIM:300373
Pfeiffer Syndrome	Mandibular prognathia, Shortening of all middle phalanges of the fingers, Depressed nasal bridge,...	OMIM:101600
Immunodeficiency, Common Variable, 1	Pneumonia, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent ot...	OMIM:607594
Ear-Patella-Short Stature Syndrome	Respiratory distress, Severe short stature, Microtia, third degree, Posteriorly rotated ears, Mic...	ORPHA:2554
Osteoglophonic Dysplasia	Mandibular prognathia, Respiratory distress, Hypoplasia of the maxilla, Short metatarsal, Eruptio...	OMIM:166250
Autosomal Recessive Spastic Paraplegia Type 78	Cerebellar atrophy, Progressive cerebellar ataxia, Progressive gait ataxia, Difficulty walking, C...	ORPHA:513436
Pelvis-Shoulder Dysplasia	Waddling gait, Short stature, Abnormal pinna morphology, Spina bifida, Mesomelic/rhizomelic limb ...	ORPHA:2839
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Kleefstra Syndrome 1	Recurrent respiratory infections, Protruding tongue, Cryptorchidism, Conotruncal defect, Macroglo...	OMIM:610253
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Microcephaly, Hydrocephalus, Partial absence of cerebellar vermis, Cerebellar hypo...	OMIM:613150
Ebstein Anomaly	Atrial septal defect, Ebstein anomaly of the tricuspid valve	OMIM:224700
Triosephosphate Isomerase Deficiency	Respiratory distress, Respiratory insufficiency due to muscle weakness, Unsteady gait, Cerebral a...	OMIM:615512
Marshall Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Hypoplastic fr...	ORPHA:560
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Hypoplastic left heart	OMIM:618829
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Emphysema, Intracranial hemorrhage, Aortic r...	ORPHA:363618
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Cerebellar atrophy, Neonatal respiratory distress, Micrognathia, Cerebral atrophy, Respiratory in...	OMIM:616266
Oculoauriculovertebral Spectrum With Radial Defects	Atrioventricular canal defect	ORPHA:2549
Fanconi Anemia, Complementation Group L	Micropenis, Renal hypoplasia, Unilateral renal agenesis	OMIM:614083
Acquired Methemoglobinemia	Respiratory distress, Dyspnea, Hypoxemia	ORPHA:464453
Nephrotic Syndrome, Type 11	High palate, Dilated cardiomyopathy, Ventricular septal defect, Cleft palate	OMIM:616730
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Microcephaly, Corpus callosum atrophy, Cerebral atrophy, Lateral ventricle dilatation, Low-set ea...	OMIM:619244
Branchiootorenal Syndrome 1	Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic...	OMIM:113650
Microlissencephaly-Micromelia Syndrome	Respiratory distress, Secondary microcephaly, Cerebellar hypoplasia	ORPHA:50810
Bilateral Generalized Polymicrogyria	Growth delay, Lateral ventricle dilatation, Short stature, Microcephaly	ORPHA:208447
Osteopetrosis, Autosomal Recessive 1	Osteomyelitis, Carious teeth, Hydrocephalus, Macrocephaly, Calvarial osteosclerosis, Hearing impa...	OMIM:259700
Cardiofaciocutaneous Syndrome 1	Depressed nasal bridge, Anteverted nares, Micrognathia, Splenomegaly, Bulbous nose, Submucous cle...	OMIM:115150
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Micromelia, Hypoplasia of the small intestine, Pulmonary hypopla...	OMIM:200995
Pterygium Colli, Isolated	Short nose	OMIM:177990
Congenital Disorder Of Glycosylation, Type Id	Cerebellar atrophy, Macrotia, Cerebral atrophy, Microcephaly	OMIM:601110
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormality of the temporomandibular joint, Multiple joint contractures, Micrognathia, Flexion co...	ORPHA:536471
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Microcolon, Megacystis, Fetal megacystis, Hydronephrosis	OMIM:619362
Arachnoiditis	Hydrocephalus, Tinnitus, Hearing impairment	ORPHA:137817
Apert Syndrome	Overriding aorta, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Esophageal atresia, P...	OMIM:101200
Galloway-Mowat Syndrome 1	Cerebellar atrophy, Ventriculomegaly, Short stature, Ataxia, Microcephaly, Micrognathia, Cerebral...	OMIM:251300
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Brachydactyly, Type B1	Ventricular septal defect	OMIM:113000
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,...	ORPHA:70
Myotonic Dystrophy 1	Respiratory distress, Cerebral atrophy	OMIM:160900
Desbuquois Dysplasia 1	Microretrognathia, Neonatal respiratory distress, Depressed nasal bridge, Short metatarsal, Conca...	OMIM:251450
7Q11.23 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydroc...	ORPHA:96121
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Cleft palate, Abnormal heart mor...	ORPHA:2237
Myotubular Myopathy With Abnormal Genital Development	Neonatal death, Retrognathia, Respiratory distress	OMIM:300219
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hamartoma of tongue, Hydrocephalus, Anencephaly, Cleft palate, Pulmonary hypoplasia, Atrial septa...	OMIM:616546
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Short metacarpal, Depressed nasal bridge, Anteverted nares, Micrognathia, Long nose...	ORPHA:508533
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce...	ORPHA:411634
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose, Apnea, Micrognathia	ORPHA:1129
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Short stature, Posteriorly rotated ears, Microcephaly, Respiratory insufficiency, Colpocephaly, L...	OMIM:617260
Meckel Syndrome, Type 2	Renal cyst	OMIM:603194
Mucopolysaccharidosis Type 3	Recurrent sinopulmonary infections, Hepatomegaly, Cardiomegaly, Respiratory tract infection, Aden...	ORPHA:581
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Crossed fused renal ectopia, Abnormal dental enamel morphology, Micromeli...	ORPHA:3258
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Spastic Paraplegia 85, Autosomal Recessive	Cerebellar atrophy	OMIM:619686
Fanconi Anemia, Complementation Group R	Growth delay, Chiari type I malformation, Hydrocephalus, Microcephaly	OMIM:617244
Cystic Fibrosis	Sinusitis, Hearing impairment, Reduced forced expiratory volume in one second, Asthma, Pneumothor...	ORPHA:586
Trichothiodystrophy	Congenital exfoliative erythroderma, Eczema, Microcephaly, Carious teeth, Hypoplasia of mandible ...	ORPHA:33364
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Cerebellar atrophy, Mixed hearing impairment, Mandibular prognathia,...	ORPHA:309282
Alazami Syndrome	Atrial septal defect	ORPHA:319671
Mepan Syndrome	Cerebellar atrophy, Gait disturbance, Ataxia, Cerebral atrophy	ORPHA:508093
Stromme Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Micrognathia, Hydrocephalus, Stillbirth, Cerebellar h...	OMIM:243605
Plaa-Associated Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Apnea, Microcephaly, Micrognathia, Sensorineural hearing impai...	ORPHA:521426
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Death in infancy, Ventricular septal defect, Eleva...	OMIM:614866
Immunodeficiency, Common Variable, 10	Psoriasiform dermatitis, Asthma, Recurrent pneumonia, Chiari type I malformation, Recurrent sinus...	OMIM:615577
Osteogenesis Imperfecta, Type Vii	Rhizomelia, Micromelia, Hypoplastic pulmonary veins, Absent pulmonary artery, Dentinogenesis impe...	OMIM:610682
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia...	ORPHA:94093
Bartsocas-Papas Syndrome	Aplasia/Hypoplasia of the distal phalanges of the toes, Micrognathia, Absent thumb, Underdevelope...	ORPHA:1234
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor, Increased CSF lactate	OMIM:615595
Cockayne Syndrome A	Cerebellar atrophy, Mandibular prognathia, Short stature, Abnormal pinna morphology, Abnormal aud...	OMIM:216400
Tetanus	Respiratory distress, Laryngospasm, Tachypnea, Trismus	ORPHA:3299
Cerebrooculonasal Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Postnatal growth retardati...	OMIM:605627
Cardiofaciocutaneous Syndrome	Abnormality of the gastrointestinal tract, Depressed nasal bridge, Anteverted nares, Abnormal hea...	ORPHA:1340
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Atrial septal defect, High palate, Mitral valve prolapse	OMIM:300986
Achondrogenesis, Type Ia	Hypoplastic nasal bridge, Hypoplastic scapulae, Anteverted nares, Depressed nasal bridge, Microme...	OMIM:200600
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Atrial septal defect, Neonatal asphyxia, Cleft palate, Cryptorchidism	ORPHA:2728
Meckel Syndrome, Type 3	Multicystic kidney dysplasia	OMIM:607361
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Intestinal malrotation, Cryptorchidism, Hydrocephalus, Abnormal lung lobation, Cle...	ORPHA:2166
Optic Pathway Glioma	Growth delay, Hydrocephalus	ORPHA:2086
Dystonia-Aphonia Syndrome	Cerebellar atrophy, Abnormal vocal cord morphology, Unsteady gait, Cerebral atrophy, Gait disturb...	ORPHA:412217
Unilateral Polymicrogyria	Apnea, Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology, Pseudobulbar p...	ORPHA:268943
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis	OMIM:618060
Loeys-Dietz Syndrome 5	Ventricular septal defect, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus ...	OMIM:615582
Angioosteohypotrophic Syndrome	Prominent superficial veins, Venous malformation	ORPHA:75508
Spinocerebellar Ataxia 1	Dilated fourth ventricle, Dysmetria, Limb ataxia, Spinocerebellar atrophy, Progressive cerebellar...	OMIM:164400
Machado-Joseph Disease Type 1	Dilated fourth ventricle, Cerebellar atrophy, Progressive cerebellar ataxia, Progressive gait ata...	ORPHA:276238
Machado-Joseph Disease Type 2	Dilated fourth ventricle, Cerebellar atrophy, Progressive cerebellar ataxia, Progressive gait ata...	ORPHA:276241
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Wide nose, Anteverted nares, Micrognathia, Hypoplasia of teeth, Short nose	ORPHA:391408
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Patent ductus arteriosus, Double inlet left ventricle, Lateral ventricl...	OMIM:619869
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Hypoplasia of penis, Anosmia, Hypoplasia of the zygomatic bone, Abnormal nostril morphology, Shor...	ORPHA:1295
Robinow Syndrome, Autosomal Dominant 2	Depressed nasal bridge, Anteverted nares, Cleft soft palate, Micrognathia, Dental malocclusion, C...	OMIM:616331
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Mandibular prognathia, Microretrognathia, Ventricular septal defect, Wide nasal ridge, Hypospadia...	ORPHA:459070
Costello Syndrome	Ventricular septal defect, Cryptorchidism, Narrow palate, Mitral valve prolapse, Macroglossia, Pu...	ORPHA:3071
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
Endove Syndrome, Limb-Brain Type	Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis	OMIM:619218
Multiple Sulfatase Deficiency	Short stature, Microcephaly, Sensorineural hearing impairment, Hydrocephalus, Macrocephaly	ORPHA:585
Lhermitte-Duclos Disease	Hydrocephalus, Enlarged cerebellum, Ataxia, Macrocephaly	ORPHA:65285
Diamond-Blackfan Anemia	Radial artery aplasia, Pure red cell aplasia, Reticulocytopenia, Leukopenia, High palate, Neutrop...	ORPHA:124
Combined Oxidative Phosphorylation Deficiency 37	Cerebellar atrophy, Sensorineural hearing impairment, Respiratory insufficiency, Respiratory fail...	OMIM:618329
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait ataxia, Gait disturbance, Truncal at...	OMIM:619259
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Short stature, Ataxia, Microcephaly, Hydrocephalus, Hearing impairment	ORPHA:220295
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi...	ORPHA:105
Al Kaissi Syndrome	Atrial septal defect, High, narrow palate	OMIM:617694
Vipoma	Hypokalemia, Hypercalcemia	ORPHA:97282
X-Linked Intellectual Disability, Cantagrel Type	Short nose, Gastroesophageal reflux	ORPHA:85277
Mesomelia-Synostoses Syndrome	Aplasia/Hypoplasia of the uvula, High, narrow palate, Hydronephrosis	ORPHA:2496
Specc1L-Related Hypertelorism Syndrome	Ventricular septal defect, Prominent nasal bridge, Ectopic kidney, Patent ductus arteriosus, Shor...	ORPHA:1519
Mowat-Wilson Syndrome	Delayed eruption of teeth, Ventricular septal defect, Pulmonary artery sling, Hypospadias, Agangl...	OMIM:235730
Japanese Encephalitis	Respiratory distress, CSF pleocytosis, CSF lymphocytic pleiocytosis, Choreoathetosis, Abnormal po...	ORPHA:79139
Juvenile Polyposis Of Infancy	Refractory anemia, High, narrow palate, Patent ductus arteriosus, Rectal prolapse, Adenomatous co...	ORPHA:79076
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Atrial septal defect	OMIM:619115
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Wide nose, Anteverted nares, Unilateral renal agenesis, Micrognathia, Hypoplasia of the maxilla, ...	OMIM:213980
Insulin-Like Growth Factor I, Resistance To	Atrial septal defect, High palate, Ventricular septal defect, Patent foramen ovale	OMIM:270450
Bohring-Opitz Syndrome	Bilateral cleft palate, Neonatal respiratory distress, Ventricular septal defect, Intestinal malr...	OMIM:605039
Mitochondrial Complex I Deficiency, Nuclear Type 1	Cerebellar atrophy, Apnea, Ataxia, Microcephaly, Sensorineural hearing impairment, Progressive ma...	OMIM:252010
Trisomy 18	Microretrognathia, Ventricular septal defect, Choanal atresia, Congenital diaphragmatic hernia, C...	ORPHA:3380
Frontofacionasal Dysplasia	Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, Cleft palate, Di...	ORPHA:1791
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, L...	OMIM:615866
Machado-Joseph Disease Type 3	Dilated fourth ventricle, Cerebellar atrophy, Degeneration of anterior horn cells, Progressive ce...	ORPHA:276244
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic micr...	OMIM:616084
16Q24.3 Microdeletion Syndrome	Ventriculomegaly, Ventricular septal defect, Cryptorchidism, Dilated cardiomyopathy, Colpocephaly...	ORPHA:261250
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Psoriasiform dermatitis, Osteomyelitis, Pneumonia, Eczema, Recurr...	ORPHA:37042
Ppoma	Hypercalcemia	ORPHA:97278
Autosomal Recessive Spastic Paraplegia Type 39	Cerebellar atrophy, Atrophy of the spinal cord, Gait ataxia	ORPHA:139480
Axenfeld-Rieger Syndrome, Type 3	Atrial septal defect, Patent ductus arteriosus	OMIM:602482
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricula...	ORPHA:818
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Advanced eruption of teeth, Short nose, Ret...	OMIM:614753
Mckusick-Kaufman Syndrome	Hydroureter, Aganglionic megacolon, Rectovaginal fistula, Pulmonary hypoplasia, Polycystic kidney...	OMIM:236700
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Asthma, Macrotia, Sensorineural hearing impairment, Retrognathia, Lat...	ORPHA:544488
Malan Overgrowth Syndrome	Episodic ataxia, Lateral ventricle dilatation, Ventriculomegaly, Macrocephaly	ORPHA:420179
Bdv Syndrome	Atrial septal defect, Cryptorchidism	OMIM:619326
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Mitochondrial Dna Depletion Syndrome 17	Cerebellar atrophy, Cerebral atrophy	OMIM:618567
Opsismodysplasia	Recurrent respiratory infections, Short metacarpal, Depressed nasal bridge, Anteverted nares, Rhi...	OMIM:258480
Toluene Embryopathy	Short nose, Hypoplasia of the zygomatic bone, Hydronephrosis, Micrognathia	ORPHA:1920
East Syndrome	Cerebellar atrophy, Ataxia, Inability to walk, Sensorineural hearing impairment, Difficulty walking	ORPHA:199343
Gapo Syndrome	Prominent scalp veins, Hepatomegaly, Depressed nasal bridge, Anteverted nares, Facial palsy, Micr...	OMIM:230740
Kaposiform Lymphangiomatosis	Epistaxis, Pericardial effusion, Dyspnea, Pancreatic cysts, Multiple renal cysts, Cough, Pleural ...	ORPHA:464329
Dyrk1A-Related Intellectual Disability Syndrome	Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Pyloric stenosis, Patent ductu...	ORPHA:464306
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Recurrent pneumonia, Growth delay, Lateral ventricle dilatation, Increased head ci...	OMIM:612301
Spondylo-Ocular Syndrome	Ventricular septal defect	ORPHA:85194
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Zttk Syndrome	Unilateral lung agenesis, Ventricular septal defect, Depressed nasal bridge, Unilateral renal age...	OMIM:617140
Meckel Syndrome, Type 6	Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney	OMIM:612284
Warburg Micro Syndrome 3	Decreased muscle mass, Micrognathia, Flexion contracture, Narrow palate, Micropenis, Short nose	OMIM:614222
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Cerebellar atrophy, Microcephaly, Respiratory insufficiency due to muscle weakness, Atrophy of th...	ORPHA:466768
Rodrigues Blindness	Nasal flaring, Short stature, Protruding ear	OMIM:268320
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Thymoma, Abnormal p...	ORPHA:227990
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Posteriorly rotated ears, Ataxia, Microcephaly, Carious teeth, Inabili...	OMIM:619229
Distal 22Q11.2 Microdeletion Syndrome	Recurrent respiratory infections, Ventricular septal defect, High, narrow palate, Pyloric stenosi...	ORPHA:261330
Scholte Syndrome	Cerebellar atrophy	OMIM:300977
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Cerebellar atrophy, Ataxia, Micrognathia, Hypoplasia of the pons, Interstitial emphysema, Bronchi...	OMIM:619708
Waardenburg Syndrome Type 1	Mandibular prognathia, Aganglionic megacolon, Underdeveloped nasal alae, Wide nasal bridge, Cleft...	ORPHA:894
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Thenar mus...	OMIM:612394
Hajdu-Cheney Syndrome	Recurrent respiratory infections, Hepatomegaly, Ventricular septal defect, Mitral stenosis, Intes...	ORPHA:955
Okamoto Syndrome	Urinary incontinence, Primum atrial septal defect, Gastroesophageal reflux, Exaggerated median to...	ORPHA:2729
Kabuki Syndrome 1	Hemolytic anemia, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Autoimmune th...	OMIM:147920
Nephronophthisis 18	Tubulointerstitial nephritis, Hydrocephalus	OMIM:615862
Osteopetrosis, Autosomal Recessive 5	Short stature, Microcephaly, Micrognathia, Hydrocephalus, Cerebral atrophy, Growth delay, Respira...	OMIM:259720
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Rena...	ORPHA:464311
Mgat2-Cdg	Respiratory distress, Impaired lymphocyte transformation with phytohemagglutinin, Ventricular sep...	ORPHA:79329
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Arteria lusoria, Anteriorly placed anus, High palate, Vesicoureteral reflux, Micropenis, Pelvic k...	OMIM:618653
H Syndrome	Microcytic anemia, Malabsorption, Recurrent pharyngitis, Hydrocephalus, Bronchiectasis, Hepatospl...	ORPHA:168569
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Microcephaly, Micrognathia, Meningoencephalocele, Hydrocephalus, Microti...	OMIM:236670
Noonan Syndrome 13	Atrial septal defect, Cryptorchidism, High palate, Mitral valve prolapse	OMIM:619087
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Spinocerebellar Ataxia 27A	Cerebellar atrophy, Abnormal vestibulo-ocular reflex, Limb ataxia, Gait ataxia	OMIM:193003
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Unilateral renal agenesis, Cardiac myxoma, Renal hypoplasia, Pyelonephritis	OMIM:181270
Galloway-Mowat Syndrome 3	Cerebellar atrophy, Short stature, Microcephaly, Micrognathia, Cerebral atrophy, Low-set ears, In...	OMIM:617729
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Thrombocytopenia-Absent Radius Syndrome	Meckel diverticulum, Death in infancy, Ventricular septal defect, Eosinophilia, Spina bifida, Pan...	OMIM:274000
Immunodeficiency 13	Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasis, Recurrent sinu...	OMIM:615518
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly, Cryptorchid...	ORPHA:96191
Bardet-Biedl Syndrome	Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia	ORPHA:110
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Inability to walk, Cerebral atrophy, Gait di...	ORPHA:168491
Shprintzen-Goldberg Craniosynostosis Syndrome	Cryptorchidism, Hydrocephalus, Narrow palate, Mitral valve prolapse, High palate, Aortic aneurysm	OMIM:182212
Chromosome 2P16.1-P15 Deletion Syndrome	High, narrow palate, Recurrent upper respiratory tract infections, High palate, Micropenis, Hydro...	OMIM:612513
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Akinesia, Neurodegeneration, Cerebral atrophy	OMIM:300894
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Truncal ataxia, Diffuse cere...	ORPHA:247815
Bladder Exstrophy And Epispadias Complex	Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy	OMIM:600057
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	High palate, Hydronephrosis, Cleft palate	ORPHA:488613
Congenital Disorder Of Glycosylation, Type Ia	Dilated fourth ventricle, Cerebellar atrophy, Pericarditis, Cerebellar vermis hypoplasia, Ataxia,...	OMIM:212065
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Diastasis recti, Intestinal malrotation, Hiatus hernia, Pneumothorax, Cleft pa...	OMIM:601776
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, ...	OMIM:210710
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdev...	OMIM:300912
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat...	ORPHA:2929
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Short nose	OMIM:611936
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Thymoma, Abnormal p...	ORPHA:227982
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Pneumonia, Erythema nodosum, Asthma, Recurrent pneumonia, Bronchiectasis, Uve...	OMIM:614700
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress, Short stature, Delayed eruption of primary t...	OMIM:119600
Smith-Kingsmore Syndrome	Rhizomelia, Depressed nasal bridge, Diastasis recti, Short proximal phalanx of finger, Short nose...	OMIM:616638
Campomelic Dysplasia	Relative macrocephaly, Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, ...	OMIM:114290
X-Linked Intellectual Disability Due To Gria3 Mutations	Micropenis, Hydronephrosis, Narrow palate	ORPHA:364028
Cerebral Visual Impairment	Microcephaly, Hydrocephalus, Central nervous system degeneration, Neurodegeneration, Infectious e...	ORPHA:447788
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Cleft...	OMIM:610759
1P36 Deletion Syndrome	Aortic arch aneurysm, Hypoplasia of penis, Abnormal heart valve morphology, Hypospadias, Abnormal...	ORPHA:1606
Cerebrocostomandibular Syndrome	Death in infancy, Neonatal respiratory distress, Hydranencephaly, Ventricular septal defect, Spin...	ORPHA:1393
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Cerebral atrophy, Lateral ventricle dilatation, Tip-toe ...	OMIM:617296
Somatostatinoma	Hypercalcemia	ORPHA:97283
Fatty Acid Hydroxylase-Associated Neurodegeneration	Cerebellar atrophy, Atrophy of the spinal cord, Progressive gait ataxia, Falls, Loss of ambulatio...	ORPHA:329308
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Patent ductus arteriosus, Ventricular septal defect, Cleft palate	OMIM:106260
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Short stature, Ataxia, Microcephaly, Postnatal growth retardation, M...	ORPHA:168577
Galloway-Mowat Syndrome 7	High palate, Dilated cardiomyopathy, Ventricular septal defect, Cleft palate	OMIM:618348
Alexander Disease	Ataxia, Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Gait disturbance, Macrocep...	ORPHA:58
Filippi Syndrome	Cryptorchidism, Ventricular septal defect	ORPHA:3255
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Abnormal dentate nucleus morphology, Posteriorly rotated ears, Microcephal...	OMIM:619512
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Chiari malformation, Increa...	ORPHA:268810
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Ventricular septal defect, Hamartoma of tongue, Intestinal malrotation, Clef...	OMIM:263520
Frontometaphyseal Dysplasia 1	Hydroureter, Cor pulmonale, Cleft palate, Mitral valve prolapse, Stridor, High palate, Hydronephr...	OMIM:305620
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Mandibular prognathia, Cerebellar vermis hypoplasia, Short stature, Ataxia, Microcephaly, Inabili...	OMIM:620083
Phace Syndrome	Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root...	ORPHA:42775
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Pyelonephritis, Varicose veins, Nephritis, Renal dysplasia	OMIM:314300
Wiedemann-Steiner Syndrome	Atrial septal defect, Cryptorchidism, Patent ductus arteriosus, High palate	OMIM:605130
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Apnea, Polycystic kidney dysplasia, Abnormal heart morphology	OMIM:214110
Adnp Syndrome	Respiratory distress, Short stature, Microcephaly, Recurrent upper respiratory tract infections, ...	ORPHA:404448
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Underdevel...	OMIM:619005
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Telangiectasia, Hereditary Hemorrhagic, Type 1	Cerebral arteriovenous malformation, Tongue telangiectasia, Venous varicosities of celiac and mes...	OMIM:187300
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Mitochondrial Complex I Deficiency, Nuclear Type 28	Cerebellar atrophy, Akinesia, Choreoathetosis, Truncal ataxia, Hearing impairment	OMIM:618249
Oxoglutaric Aciduria	Hydrocephalus, Short stature, Ataxia	ORPHA:31
Chromosome 10Q26 Deletion Syndrome	Atrial septal defect, Cryptorchidism, Patent ductus arteriosus, High palate	OMIM:609625
Gomez-Lopez-Hernandez Syndrome	Malar flattening, Short nose, High palate, Anteverted nares	OMIM:601853
Carnitine Deficiency, Systemic Primary	Respiratory distress	OMIM:212140
X Small Rings	Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Aortic root aneurysm	ORPHA:96201
Micro Syndrome	Hypoplasia of penis, Anteverted nares, Micrognathia, Wide nasal bridge, High palate, Short nose, ...	ORPHA:2510
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Short metacarpal, Depressed nasal bridge, Patent ductus arteriosus, Incr...	ORPHA:457395
Zollinger-Ellison Syndrome	Hypercalcemia	ORPHA:913
Icf Syndrome	Communicating hydrocephalus, Short stature, Micrognathia, Low-set ears, Macrocephaly	ORPHA:2268
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Geleophysic Dysplasia 1	Hepatomegaly, Mitral stenosis, Anteverted nares, Tricuspid stenosis, Camptodactyly of finger, Sho...	OMIM:231050
Otopalatodigital Syndrome, Type I	Short hallux, Absent frontal sinuses, Wide nasal bridge, Cleft palate, Multiple impacted teeth, S...	OMIM:311300
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Neoplasm of the heart, Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Cerebellar atrophy, Short stature, Ataxia, Postnatal growth retardation, Sensorineural hearing im...	OMIM:616263
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Ventricular septal defect, Dilated fourth ventricle	OMIM:619306
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena...	ORPHA:2322
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Anteverted nares, Macroglossia, Concave nasal ridge, Malar flattening, Sh...	OMIM:613038
Erythrocytosis, Familial, 2	Varicose veins, Stroke, Pulmonary arterial hypertension, Cerebral hemorrhage	OMIM:263400
Spinocerebellar Ataxia Type 21	Akinesia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Gait ataxia	ORPHA:98773
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, H...	ORPHA:93111
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Pallidal degeneration, Ataxia, Progressive macrocephaly, Athetosis, ...	ORPHA:25
10Q22.3Q23.3 Microdeletion Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Tricuspid valve prolapse	ORPHA:276413
Arima Syndrome	Proteinuria, Polyuria, Dyspnea, Tachypnea, Stage 5 chronic kidney disease, Hematuria, Renal corti...	OMIM:243910
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Nephrocalcinosis, Short palm, Micropenis, Depressed nasal bridge, Anteverted nares,...	OMIM:268310
Gabriele-De Vries Syndrome	Aortopulmonary collateral arteries, High palate, Ureteropelvic junction obstruction, Patent foram...	OMIM:617557
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Urinary incontinence, Long nose, High palate, Atrial septal defect, Pelvic ki...	OMIM:619522
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Renal cyst	ORPHA:79303
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Sensorineural hearing impairment, Loss of a...	OMIM:607426
Ritscher-Schinzel Syndrome 3	Atrioventricular canal defect	OMIM:619135
Grfoma	Hypercalcemia	ORPHA:97261
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Gastroesophageal reflux, Advanced eruption of teeth, Short nose, Broad co...	OMIM:617865
Acrocallosal Syndrome	Mandibular prognathia, Microretrognathia, Hypospadias, Abnormal pulmonary valve morphology, Persi...	OMIM:200990
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Tubulointerstitial nephritis, Pancreatitis	OMIM:251000
Milroy Disease	Varicose veins, Abnormal venous morphology	ORPHA:79452
Diamond-Blackfan Anemia 1	Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ...	OMIM:105650
Aarskog-Scott Syndrome	Anteverted nares, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Wide nasal bridg...	OMIM:305400
Spastic Tetraplegia And Axial Hypotonia, Progressive	Cerebellar atrophy, Ataxia, Posteriorly rotated ears, Low-set ears	OMIM:618598
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital diaphragmatic hernia...	ORPHA:373
Oromandibular Dystonia	Respiratory distress, Abnormality of the temporomandibular joint, Abnormal mandible morphology	ORPHA:93958
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect, Renal cyst, Horseshoe kidney	OMIM:250410
Igg4-Related Submandibular Gland Disease	Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Enlarged lacrimal glands, Abnormal pancreas ...	ORPHA:449432
Semilobar Holoprosencephaly	Central apnea, Short stature, Microcephaly, Inability to walk, Hydrocephalus, Sensorineural heari...	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Short stature, Microcephaly, Inability to walk, Hydrocephalus, Sensorineural heari...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Short stature, Microcephaly, Inability to walk, Hydrocephalus, Sensorineural heari...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Short stature, Microcephaly, Inability to walk, Hydrocephalus, Sensorineural heari...	ORPHA:93924
Campomelia, Cumming Type	Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts	ORPHA:1318
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Anteverted nares	OMIM:619854
20Q11.2 Microduplication Syndrome	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Micropenis, Short foot, Short palm, ...	ORPHA:363659
Charcot-Marie-Tooth Disease Type 4C	Cerebellar atrophy, Hypoventilation, Inability to walk, Sensorineural hearing impairment, Respira...	ORPHA:99949
Crouzon Syndrome	Mandibular prognathia, Keratitis, Hypoplasia of the maxilla, Hydrocephalus, Conjunctivitis, Atres...	OMIM:123500
Ctcf-Related Neurodevelopmental Disorder	Anteverted nares, Broad nasal tip, Phimosis, Patent ductus arteriosus, Cleft palate, Coarctation ...	ORPHA:363611
Teebi-Shaltout Syndrome	Ureteral stenosis, Ventricular septal defect, High, narrow palate, Horseshoe kidney, Cleft palate...	OMIM:272950
Schinzel-Giedion Syndrome	Respiratory distress, Micrognathia, Renal cyst, Anteriorly placed anus, Choanal stenosis, High pa...	ORPHA:798
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect, Cleft palate	ORPHA:1770
Alveolar Echinococcosis	Abnormal pericardium morphology, Pancreatic cysts, Dyspnea, Renal cyst, Cough, Abnormal bladder m...	ORPHA:284
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Hydronephrosis	OMIM:619217
Spinocerebellar Ataxia 8	Cerebellar atrophy, Progressive cerebellar ataxia	OMIM:608768
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Ataxia, Cerebral atrophy, Respiratory insufficiency, Difficulty walking, Abno...	OMIM:213700
Diamond-Blackfan Anemia 8	Short nose, Wide nasal bridge	OMIM:612563
Peutz-Jeghers Syndrome	Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts	ORPHA:2869
Q Fever	Respiratory distress, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myocarditi...	ORPHA:781
Cimdag Syndrome	Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Sensorineural hearing impairment, Cerebral at...	OMIM:619273
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Osteomyelitis, Skin rash, Pustule, Stomatitis	OMIM:612852
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Abnormal tubulointerstitial morphology,...	ORPHA:904
Ramos-Arroyo Syndrome	Respiratory distress, Aganglionic megacolon, Patent ductus arteriosus, Xerostomia, Smooth tongue,...	ORPHA:1051
Trisomy 20P	Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne...	ORPHA:261318
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Ureteral stenosis, Depressed nasal bridge, Anteverted nares, Hyp...	OMIM:269150
Acrofacial Dysostosis, Catania Type	Microretrognathia, Hypospadias, Carious teeth, Small hand, Hypoplasia of the zygomatic bone, Shor...	ORPHA:1786
5Q14.3 Microdeletion Syndrome	Short nose, Anteverted nares	ORPHA:228384
Williams-Beuren Syndrome	Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Nephrocalcinosis, Gastroesophageal r...	OMIM:194050
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Atrial septal defect, Tracheobronchomalacia, Patent foramen ovale, Cleft palate	OMIM:619184
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Hepatomegaly, Biliary hyperplasia, Pyloric stenosis, Cleft palate, Perimemb...	ORPHA:83617
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Short stature, Micrognathia, Hydrocephalus, Dentinogenesis imperfecta	OMIM:112240
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Gait ataxia, Spinocerebellar atrophy, Progressive cerebellar ataxia, Difficulty walking, Cochlear...	ORPHA:95433
Marshall-Smith Syndrome	Anteverted nares, Choanal atresia, Protruding tongue, Short nose, Retrognathia	ORPHA:561
Glucagonoma	Hypercalcemia	ORPHA:97280
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia	OMIM:127000
Multiple Endocrine Neoplasia Type 2	Hypercalcemia	ORPHA:653
Bartsocas-Papas Syndrome 1	Short metacarpal, Hypoplastic scapulae, Anal stenosis, Underdeveloped nasal alae, Ectopic kidney,...	OMIM:263650
Tetrasomy 18P	Short nose, Achalasia	ORPHA:3307
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Keratitis, Orchitis, Thyroiditis, Abnormality of the sphenoid sinus, Pros...	ORPHA:449563
Opitz-Kaveggia Syndrome	Anal stenosis, Intestinal malrotation, Cryptorchidism, Hydrocephalus, Pyloric stenosis, Cleft pal...	OMIM:305450
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormal pulmonary valve morphology, Ureth...	ORPHA:857
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Severe short stature, Abnormal dental enamel morphology, Microcephaly, Micr...	ORPHA:2556
Atrioventricular Septal Defect 4	Primum atrial septal defect	OMIM:614430
Koolen-De Vries Syndrome Due To A Point Mutation	Atrial septal defect, Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Atrial septal defect, Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal...	ORPHA:363958
Doors Syndrome	Respiratory distress, Cleft palate, Narrow palate, High palate, Aspiration pneumonia, Thrombocyto...	ORPHA:79500
Au-Kline Syndrome	Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal tip, Chronic kid...	OMIM:616580
Dubowitz Syndrome	Low-set, posteriorly rotated ears, Delayed eruption of teeth, Short stature, Eczema, Microcephaly...	ORPHA:235
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Growth delay, Cerebellar atrophy, Spastic ataxia	ORPHA:496756
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Degeneration of anterior horn cells	OMIM:271225
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
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
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Apnea, Posteriorly rotated ears, Microcephaly, Micrognathia, Hypopla...	ORPHA:2462
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Cryptorchidism, Thro...	OMIM:617052
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent nasal bridge, Underdeveloped nasal alae, Aplasia of the distal phalanx of the 5th toe, ...	ORPHA:364577
Mucopolysaccharidosis, Type Iiid	Cerebellar atrophy, Short stature, Recurrent upper respiratory tract infections, Low-set ears, Ma...	OMIM:252940
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Atrial septal defect, Abnormal mitral valve morphology	ORPHA:1292
Stt3A-Cdg	Cerebellar atrophy, Microcephaly	ORPHA:370921
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Ataxia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Gait di...	OMIM:277460
Ataxia-Oculomotor Apraxia 3	Cerebellar atrophy, Ataxia, Dysmetria	OMIM:615217
Autosomal Recessive Ataxia, Beauce Type	Cerebellar atrophy, Ataxia, Dysmetria, Gait disturbance, Atrophy/Degeneration affecting the brain...	ORPHA:88644
Orofaciodigital Syndrome Type 4	Micromelia, Micrognathia, High, narrow palate, Depressed nasal ridge, Aplasia/Hypoplasia of the t...	ORPHA:2753
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Atrial septal defect, Spina bifida occulta, Ventricular septal defect	OMIM:617360
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Cerebellar atrophy, Diffuse cerebral atrophy, Cerebellar vermis hypoplasia, Ataxia, Microcephaly,...	ORPHA:543470
Distal 22Q11.2 Microduplication Syndrome	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Macroglossia,...	ORPHA:261337
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Small hand, Hematuria, Short nose, Convex nasal ridge	ORPHA:3121
Fanconi Anemia, Complementation Group N	Aplastic anemia, Ventricular septal defect	OMIM:610832
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Ascending tubular aorta aneurys...	ORPHA:444072
Antley-Bixler Syndrome	Anteverted nares, Camptodactyly of finger, Choanal atresia, Cleft palate, Hypoplasia of the zygom...	ORPHA:83
Parkes Weber Syndrome	Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V...	ORPHA:90307
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Mild postnatal growth retardation, Short statur...	OMIM:101800
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Hepatitis, Intest...	ORPHA:436252
Noonan Syndrome	Hepatomegaly, Abnormal pulmonary valve morphology, Micrognathia, Pulmonary artery stenosis, Aplas...	ORPHA:648
Congenital Myopathy 22A, Classic	Waddling gait, Micrognathia, Respiratory insufficiency, Normal pressure hydrocephalus, Neonatal d...	OMIM:620351
19Q13.11 Microdeletion Syndrome	Recurrent respiratory infections, Ventricular septal defect, Cryptorchidism	ORPHA:217346
Aceruloplasminemia	Refractory anemia, Abnormal pancreas morphology, Hypochromic microcytic anemia, Hepatic fibrosis,...	ORPHA:48818
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Renal cyst, Respirato...	OMIM:208500
Acrofacial Dysostosis 1, Nager Type	Ventricular septal defect, Aganglionic megacolon, Aqueductal stenosis, Patent ductus arteriosus, ...	OMIM:154400
Branchio-Oculo-Facial Syndrome	High palate, Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
X-Linked Dominant Chondrodysplasia Punctata	Abnormal lung morphology, High palate, Hydronephrosis	ORPHA:35173
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Death in infancy, Microvesicular hepatic steatosis, Patent ductus arteriosus, Respi...	OMIM:300868
Intellectual Developmental Disorder, Autosomal Dominant 62	Cerebellar vermis atrophy	OMIM:618793
Developmental And Epileptic Encephalopathy 89	Cerebellar atrophy, Microretrognathia, Asymmetry of the ears, Cerebral atrophy, Low-set ears, Mac...	OMIM:619124
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Growth delay, Intrauterine growth retardation, Cerebellar atrophy, Short stature	OMIM:618541
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Cryptorchidism, Ventricular septal defect	OMIM:620073
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Abnormal pinna morphology, Hydrocephalus, Severe sensorineural hearing impairment, Nasofrontal en...	OMIM:614195
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Intestinal malrotation, Epispadias, Ve...	OMIM:258040
Pontocerebellar Hypoplasia, Type 10	Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Limb hypertonia, High palate, Gastroe...	OMIM:615803
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa...	OMIM:619525
Mody	Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria	ORPHA:552
Joubert Syndrome 1	Central apnea, Episodic tachypnea, Renal cyst, Nephropathy, Neonatal breathing dysregulation	OMIM:213300
Gorlin Syndrome	Mandibular prognathia, Hydrocephalus, Carious teeth	ORPHA:377
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Intermittent hyperventilation, Prominent nasal bridge, Micrognathia, Broad nasal tip, Wide nasal ...	OMIM:300749
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Episodic ataxia, Dysmetria, Gait ataxia	OMIM:602481
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Short nose, Epistaxis, Cerebral hemorrhage, Short distal phalanx of finger	OMIM:277450
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Abnormal vestibulo-ocular refl...	ORPHA:247234
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Low-set ears, Communicating hydrocephalus, Ventriculomegaly	OMIM:618188
Endocrine-Cerebroosteodysplasia	Natal tooth, Micrognathia, Laryngeal hypoplasia, Hydrocephalus, Hypoplasia of the epiglottis, Hol...	OMIM:612651
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress	ORPHA:226313
Cranioectodermal Dysplasia 3	Rhizomelia, Micrognathia, Stage 5 chronic kidney disease, Hypoplasia of teeth, Nephronophthisis, ...	OMIM:614099
Orofaciodigital Syndrome Type 1	Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Ha...	ORPHA:2750
Cerebellofaciodental Syndrome	Cryptorchidism, Ventricular septal defect, Ventriculomegaly, Mitral valve prolapse	OMIM:616202
Webb-Dattani Syndrome	Neurogenic bladder, Hyposthenuria, Gastroesophageal reflux, Vesicoureteral reflux, Hydronephrosis	OMIM:615926
Pachyonychia Congenita	Respiratory distress, Advanced eruption of teeth, Natal tooth, Angular cheilitis	ORPHA:2309
Cockayne Syndrome	Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen...	ORPHA:191
Enlarged Parietal Foramina	Abnormal cerebral vein morphology, Venous malformation	ORPHA:60015
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Neutropenia, Steatorrhea, High palate, Hyperechogenic pancreas, ...	OMIM:617941
Hyperphosphatasia-Intellectual Disability Syndrome	Aganglionic megacolon, Anteriorly placed anus, Hydronephrosis, High palate, Bifid uvula	ORPHA:247262
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Cerebellar atrophy, Short stature, Cerebral atrophy	OMIM:268020
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Macroglossia, Re...	OMIM:618268
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pancreatic fibrosis, Ventricular septal defect, Pulmonary hypoplasia	OMIM:615503
White-Sutton Syndrome	Patent ductus arteriosus, Cleft palate, High palate, Atrial septal defect, Patent foramen ovale, ...	OMIM:616364
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Lujo Hemorrhagic Fever	Respiratory distress, Pharyngitis, Maculopapular exanthema, Skin rash, Crackles, Nonproductive co...	ORPHA:319213
Codas Syndrome	Ventricular septal defect, Cryptorchidism, Rectovaginal fistula, Atrial septal defect, Anal atres...	OMIM:600373
Mucopolysaccharidosis Type 2, Severe Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly, Recurrent upp...	ORPHA:217085
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Ventricular septal defect, Prominent nasal bridge, Abnormal pulmonary valve morphology, Broad nas...	ORPHA:268261
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Zimmermann-Laband Syndrome 1	Aortic arch aneurysm, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Cardiomyopathy, Aorti...	OMIM:135500
Tuberous Sclerosis Complex	Respiratory distress, Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Sta...	ORPHA:805
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Sturge-Weber Syndrome	Pulmonary embolism, Hydrocephalus, Chiari malformation, Macrocephaly, Cerebral cortical atrophy	ORPHA:3205
14Q22Q23 Microdeletion Syndrome	Renal hypoplasia	ORPHA:264200
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Atrial septal defect, Aortic root aneurysm, Submucous cleft hard palate	OMIM:618891
Senior-Loken Syndrome 8	Pancreatic cysts, Vascular dilatation, Hepatic cysts, Intrahepatic bile duct dilatation	OMIM:616307
Larsen Syndrome	Atrial septal defect, Ventricular septal defect, Cryptorchidism, Cleft palate, Tracheomalacia, Sp...	OMIM:150250
2P15P16.1 Microdeletion Syndrome	Recurrent respiratory infections, Multicystic kidney dysplasia, High palate, Dysphagia, Hydroneph...	ORPHA:261349
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
D-Bifunctional Protein Deficiency	Cerebellar atrophy, Micrognathia, Corpus callosum atrophy, Low-set ears, Macrocephaly, Retrognath...	OMIM:261515
Pseudohypoparathyroidism Type 1C	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79444
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Bilateral cryptorchidism, Asthma, Atrial septal defect, Pancreatitis	OMIM:619471
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Atelosteogenesis, Type I	11 pairs of ribs, Short humerus, Short metacarpal, Short femur, Depressed nasal bridge, Rhizomeli...	OMIM:108720
Pfeiffer Syndrome Type 1	Aplasia/Hypoplasia of the thumb, Depressed nasal bridge, Short hallux, Short foot, High palate, S...	ORPHA:93258
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Apnea, Micrognathia, Respiratory insufficiency, Contractures of the large joints, High palate, Dy...	OMIM:617527
Phelan-Mcdermid Syndrome	High palate, Patent ductus arteriosus, Ventricular septal defect, Ventriculomegaly	OMIM:606232
White-Sutton Syndrome	Cerebellar atrophy, Short stature, Posteriorly rotated ears, Microcephaly, Hypoplasia of the pons...	ORPHA:468678
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, P...	OMIM:607872
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Bulbous nose, Depressed nasal bridge, Short nose	OMIM:618430
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch...	ORPHA:64744
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly, Recurrent upp...	ORPHA:217093
Helsmoortel-Van Der Aa Syndrome	Recurrent respiratory infections, Anteverted nares, Facial palsy, Broad nasal tip, Carious teeth,...	OMIM:615873
Radio-Tartaglia Syndrome	High, narrow palate, High palate, Ventricular septal defect	OMIM:619312
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Short stature, Micrognathia, Hydrocephalus, Sensorineural hearing impairme...	OMIM:616007
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Severe short stature, Micrognathia, Hydrocephalus, Malar flattening, Neonatal shor...	OMIM:224400
Oculoectodermal Syndrome	Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ...	OMIM:600268
Lathosterolosis	Hearing impairment, Microcephaly, Micrognathia, Meningocele, Chiari malformation, Biparietal narr...	ORPHA:46059
Temtamy Preaxial Brachydactyly Syndrome	Short hallux, Micrognathia, Hypoplasia of the maxilla, Talon cusp, Short foot, Short palm, Short ...	ORPHA:363417
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
Phocomelia, Schinzel Type	Hypoplasia of penis, Micromelia, Micrognathia, Aplasia of the ulna, High, narrow palate, Hypoplas...	ORPHA:2879
Weill-Marchesani Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Narrow palate, Pulmonic stenosis, Aortic val...	OMIM:277600
Combined Oxidative Phosphorylation Deficiency 15	Respiratory arrest, Ventricular septal defect, Ventricular septal hypertrophy, Increased CSF lactate	OMIM:614947
Pancreatic Agenesis 1	Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency	OMIM:260370
Cousin Syndrome	Rhizomelia, Posteriorly rotated ears, Micrognathia, Hydrocephalus, Disproportionate short stature...	OMIM:260660
Mend Syndrome	Cryptorchidism, Hydrocephalus, Cleft palate, Abnormal heart morphology, High palate, Aortic valve...	ORPHA:401973
Hajdu-Cheney Syndrome	Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Patent ductus arteriosus, Hydr...	OMIM:102500
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Bilateral cryptorchidism, Pneumothorax, Ascending tubular aorta aneurysm...	OMIM:617403
Joubert Syndrome 5	Central apnea, Episodic tachypnea, Impaired renal concentrating ability, Stage 5 chronic kidney d...	OMIM:610188
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Abnormal cerebellum morphology, Hydrocephalus, I...	ORPHA:2356
3Mc Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Atrial septal defect, Spina bi...	OMIM:257920
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Malabsorption, Asthma, Flexion contracture, Short nose, Retrognathia	OMIM:601675
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Furrowed tongue, High palate...	OMIM:616975
19P13.13 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Functional abnormality of the gastrointestinal tract, M...	ORPHA:357001
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Hypoplasia of penis, Aganglionic megacolon, Abnormality of th...	ORPHA:847
Familial Infantile Myoclonic Epilepsy	Cerebellar atrophy, Ataxia, Gait disturbance	ORPHA:352582
Down Syndrome	Depressed nasal bridge, Aganglionic megacolon, Protruding tongue, Depressed nasal ridge, Narrow p...	ORPHA:870
Nablus Mask-Like Facial Syndrome	Depressed nasal bridge, Anteverted nares, Short hallux, Hypoplasia of the maxilla, Wide nasal bri...	OMIM:608156
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Renal cyst	OMIM:601539
Lateral Meningocele Syndrome	Ventricular septal defect, Cryptorchidism, High, narrow palate, Meningocele, High palate	ORPHA:2789
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Recurrent respiratory infections, Ventricular septal defect, Cryptorchidism, Patent ductus arteri...	ORPHA:3047
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibrosis, Villous atrophy, Malabsorp...	OMIM:557000
Lethal Kniest-Like Dysplasia	Atrial septal defect, Cleft palate	ORPHA:2347
Meier-Gorlin Syndrome 1	Respiratory distress, Microcephaly, Micrognathia, Hypoplasia of the maxilla, Birth length less th...	OMIM:224690
Fetal Hydantoin Syndrome	Short nose, Depressed nasal ridge, Cleft palate, Short distal phalanx of finger	ORPHA:1912
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation, Microcephaly	OMIM:619278
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Ataxia, Dyspnea, Sensorineural hearing impairment, Episodic respiratory distress, Increase...	ORPHA:255210
Hereditary Angioedema Type 1	Respiratory distress, Pharyngeal edema, Dyspnea, Laryngeal edema, Abnormal epiglottis morphology,...	ORPHA:100050
Campomelic Dysplasia	Cleft palate, Respiratory insufficiency, Tracheomalacia, Tracheobronchomalacia, Hydronephrosis	ORPHA:140
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Posteriorly rotated ears, Underdeveloped antitragus, Choroid plexus cyst, Prominent antihelix, La...	ORPHA:293725
Marshall Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Absent frontal sinuses, Cleft palate, Mac...	OMIM:154780
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Ventricular septal defect, Renal cyst, Mitral valve prolapse, Nephroblastoma, ...	OMIM:617107
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hypospadias, Urethr...	OMIM:107480
Ataxia-Oculomotor Apraxia 4	Cerebellar atrophy, Ataxia, Atrophy/Degeneration affecting the brainstem	OMIM:616267
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Atrial septal defect, Macroglossia	ORPHA:93947
Cutis Laxa, Autosomal Recessive, Type Iia	Anteverted nares, Carious teeth, High palate, Malar flattening, Short nose	OMIM:219200
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Central apnea, Progressive flexion contractures, Gastroesophageal reflux, Atrial septal defect, P...	ORPHA:522077
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Bicuspid aortic valve, Ventricular septal defect, Apnea, Breathing dysregulation...	ORPHA:438213
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose	OMIM:122880
Schneckenbecken Dysplasia	Hypoplastic scapulae, Cleft palate, Short ribs, Limb undergrowth, Malar flattening, Short nose	OMIM:269250
Aymé-Gripp Syndrome	Pericarditis, Pericardial effusion, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Clef...	ORPHA:1272
Distal Deletion 19P	Cleft palate, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:96129
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Cerebellar atrophy, Progressive cerebellar ataxia	OMIM:618868
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Unilateral renal agenesis, Abnormal cardiac septum morphology, Pulmonary hypoplasia, Hydronephros...	OMIM:308050
Tetraamelia-Multiple Malformations Syndrome	Micrognathia, Hydrocephalus, Microtia, Abnormality of the larynx, Agenesis of corpus callosum	ORPHA:3301
Immunodeficiency 56	Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic hepatitis due to c...	OMIM:615207
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cerebellar atrophy, Dysmetria	OMIM:619780
Mohr Syndrome	Short stature, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus, Agenesis of central inciso...	OMIM:252100
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Dilatation of the ventricular cavity, Bronchiectasis, Pyelonephritis, ...	ORPHA:90348
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Cr...	OMIM:163950
Ulbright-Hodes Syndrome	Abnormal penis morphology, Respiratory distress, Pneumothorax, Renal hypoplasia, Respiratory fail...	ORPHA:3404
Lathosterolosis	Foam cells with lamellar inclusion bodies, Anteverted nares, Micrognathia, Wide nasal bridge, Hor...	OMIM:607330
Vascular Ehlers-Danlos Syndrome	High, narrow palate, Gastrointestinal infarctions, Peripheral arteriovenous fistula, Hypospadias,...	ORPHA:286
Fraser Syndrome 1	Hypospadias, Renal hypoplasia/aplasia, Renal hypoplasia, Abnormal heart morphology, Micropenis	OMIM:219000
Aicardi Syndrome	Prominence of the premaxilla, Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Postnatal...	OMIM:304050
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho...	ORPHA:456312
Hypotonia, Ataxia, And Delayed Development Syndrome	Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Short stature, Posteriorly ro...	OMIM:617330
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Broad-based gait, Short stature, Ataxia, Osteomyelitis leading to amputatio...	OMIM:256810
Hand-Foot-Genital Syndrome	Miscarriage, Ventricular septal defect	ORPHA:2438
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
2Q37 Microdeletion Syndrome	Tracheomalacia, Multicystic kidney dysplasia, Nephroblastoma	ORPHA:1001
Basal Cell Nevus Syndrome 2	Hydrocephalus, Macrocephaly	OMIM:620343
Stickler Syndrome	Skeletal muscle atrophy, Recurrent respiratory infections, Anteverted nares, Depressed nasal brid...	ORPHA:828
Osteogenesis Imperfecta	Abnormal endocardium morphology, Neonatal respiratory distress, Ventriculomegaly, Intestinal obst...	ORPHA:666
Meckel Syndrome 14	Cardiorespiratory arrest, Pneumothorax, Polycystic kidney dysplasia, Single ventricle	OMIM:619879
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Respiratory insufficiency	ORPHA:367
Holoprosencephaly 9	Short stature, Hypoplasia of the premaxilla, Microcephaly, Hypoplasia of the maxilla, Partial age...	OMIM:610829
Opitz Gbbb Syndrome	Ventricular septal defect, Rectourethral fistula, Cryptorchidism, Cleft palate, High palate, Aspi...	OMIM:300000
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal right ventricle m...	ORPHA:500095
Cutis Laxa, Autosomal Recessive, Type Iic	Prominent superficial veins, Bilateral cryptorchidism, Pyloric stenosis, Pneumothorax, Mitral val...	OMIM:617402
Tuberous Sclerosis 1	Renal angiomyolipoma, Renal cyst, Renal cell carcinoma, Cardiac rhabdomyoma	OMIM:191100
3Q29 Microduplication Syndrome	High palate, Ectopic anus, Ventricular septal defect, Cleft palate	ORPHA:251038
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Inflammation of the large intestine...	OMIM:232220
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Cryptorchidism, Hydrocephalus, High, narrow palate, Pylo...	ORPHA:3472
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Microcephaly, Decreased CSF albumin concentration, Dysmetria, Athetosis, Lo...	OMIM:615273
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Aspiration, Lateral ventricle dilatation, Secondary microcephaly	ORPHA:2148
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Microvesicular hepatic steatosis, Asthma, Hydrocephal...	OMIM:619377
Multiple Endocrine Neoplasia Type 1	Hypercalcemia	ORPHA:652
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Atrial septal defect, Thrombocytopenia	ORPHA:457351
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Aplasia/Hypoplasia of the clavicles, Micrognathia, Short nose, Convex nasal ridge, Sh...	ORPHA:90154
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Abnormality of the pulmonary artery	ORPHA:1065
Cohen Syndrome	Ventricular septal defect, Aplasia/Hypoplasia of the tongue, Cryptorchidism, High, narrow palate,...	ORPHA:193
Al-Gazali Syndrome	Recurrent pneumonia, Hydronephrosis	OMIM:609465
Paroxysmal Nocturnal Hemoglobinuria	Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood...	ORPHA:447
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Neonatal respiratory distress, Apnea, Ventricular septal defect, Stridor, High palate, Aspiration	OMIM:614653
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Respiratory insufficie...	ORPHA:93271
Cornelia De Lange Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Micromelia, Micrognathia, High palate, Gast...	ORPHA:199
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Renal cyst, Cardiac rhabdomyoma, Renal cell ca...	OMIM:613254
Melnick-Needles Syndrome	Recurrent respiratory infections, Ureteral stenosis, Cleft palate, Mitral valve prolapse, Tricusp...	OMIM:309350
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Cryptorchidism, Patent ductus arteriosus, Respir...	OMIM:139210
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Neonatal respiratory distress, Posteriorly rotated ears, Lateral ventricle dilatation, Disproport...	OMIM:619479
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:568
Cerebrocostomandibular Syndrome	Neonatal respiratory distress, Anal stenosis, Ventricular septal defect, Cleft soft palate, Paten...	OMIM:117650
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Urethral atresia, Pulmonary hypoplasia, Hydronephrosis, Anal atresia	OMIM:271520
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Hypoplasia of the maxilla, Gastrointestinal dysmotility, Gastroesophage...	ORPHA:500150
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Micrognathia, Short thu...	OMIM:268400
Coffin-Siris Syndrome 1	Hydroureter, Ventricular septal defect, Hypospadias, Ectopic kidney, Renal hypoplasia, Atrial sep...	OMIM:135900
Aicardi-Goutieres Syndrome 7	Cerebellar atrophy, Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Microcephaly, Hepatitis...	OMIM:615846
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hyperechogenic kidneys, Polycystic kidney dysplasia	OMIM:617866
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis	OMIM:608189
Pallister-Hall Syndrome	Ectopic kidney, Depressed nasal ridge, Abnormal lung lobation, Atrial septal defect, Micropenis, ...	ORPHA:672
Tbck-Related Intellectual Disability Syndrome	Ventricular septal defect, Cryptorchidism, Asthma, High, narrow palate, Respiratory insufficiency...	ORPHA:488632
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus	OMIM:601794
Dyskeratosis Congenita, Autosomal Recessive 8	Cerebellar atrophy, Intrauterine growth retardation, Inflammation of the large intestine, Pancolitis	OMIM:620133
Skin Creases, Congenital Symmetric Circumferential, 1	Posteriorly rotated ears, Microcephaly, Micrognathia, Low-set ears, Overfolded helix, Dandy-Walke...	OMIM:156610
White-Kernohan Syndrome	Hydroureter, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Horseshoe kidne...	OMIM:619426
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Short metacarpal, Depressed nasal bridge, Micromelia, Micrognathia, Hypoplasia of the odontoid pr...	OMIM:271665
Craniofacial Microsomia 1	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Right aortic arch, Tet...	OMIM:164210
Celiac Disease, Susceptibility To, 1	Hypocalcemia	OMIM:212750
Cole-Carpenter Syndrome	Communicating hydrocephalus, Delayed eruption of teeth, Short stature, Abnormal dental enamel mor...	ORPHA:2050
2Q31.1 Microdeletion Syndrome	Ventricular septal defect, Cryptorchidism, Cleft palate, Atrial septal defect, Ventriculomegaly	ORPHA:251014
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Inflammatory abnormality of the skin, Cholangitis, Eczema, Pulmonary emboli...	ORPHA:3260
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Transient ischemic attack, Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:2995
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cerebellar atrophy, Decreased CSF albumin concentration, Inability to walk, Decreased CSF biopter...	ORPHA:404454
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short metacarpal, Short fourth metatarsal, Depressed nasal bridge, Short femoral neck, Malar flat...	OMIM:616723
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Micropenis, Renal hypoplasia	OMIM:619321
Spondylocarpotarsal Synostosis Syndrome	Scapular winging, Short metacarpal, Anteverted nares, Broad nasal tip, Hypoplasia of the odontoid...	OMIM:272460
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Renal dysplasia, Duplicated collecting system, Anal stenosis, Hydroureter, Renal agenesis, Absenc...	OMIM:604292
Monosomy 9Q22.3	Delayed eruption of teeth, Hydrocephalus, Chiari malformation, Low-set ears, Macrocephaly, Thicke...	ORPHA:77301
Plague	Respiratory distress, Chapped lip, Pharyngitis, Skin rash, Erythema nodosum, Lymphadenitis, Unste...	ORPHA:707
Autosomal Recessive Spastic Paraplegia Type 35	Cerebellar atrophy, Corpus callosum atrophy, Dysmetria, Pontocerebellar atrophy, Dysdiadochokines...	ORPHA:171629
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Hypoplastic aortic arch, Ventriculomegaly	ORPHA:457284
Difference Of Sex Development-Intellectual Disability Syndrome	Short nose, Hypoplasia of penis	ORPHA:2983
Mietens Syndrome	Hypoplasia of the ulna, Wide nose, Hypoplasia of the radius, Wide nasal bridge, Short nose	ORPHA:2557
Weill-Marchesani Syndrome 2	Ventricular septal defect, Patent ductus arteriosus, Narrow palate, Ascending aortic dissection, ...	OMIM:608328
Distal Deletion 9P	Hypospadias, High, narrow palate, Wide nasal bridge, Cleft palate, Short nose	ORPHA:1642
Fanconi Anemia, Complementation Group C	Pancytopenia, Ventricular septal defect, Cryptorchidism, Thrombocytopenia, Reticulocytopenia, Bon...	OMIM:227645
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Pseudohypoparathyroidism Type 1A	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79443
Autosomal Recessive Spastic Paraplegia Type 11	Ataxia, Atrophy of the spinal cord, Inability to walk, Lateral ventricle dilatation, Gait disturb...	ORPHA:2822
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Macroglossia, Respiratory failure, Hydronephrosis	ORPHA:254528
Holoprosencephaly 7	Hypoplasia of the premaxilla, Microcephaly, Alobar holoprosencephaly, Partial agenesis of the cor...	OMIM:610828
Von Hippel-Lindau Syndrome	Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst	OMIM:193300
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Dilated fourth ventricle, Ventriculomegaly, Cerebellar vermis hypoplasia, S...	ORPHA:480880
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Ventricular septal defect, Broad nasal tip, Asthma, Recurrent pneumonia, W...	OMIM:620330
Ayme-Gripp Syndrome	Mandibular prognathia, Pericarditis, Depressed nasal bridge, Wide nasal bridge, Camptodactyly, Ma...	OMIM:601088
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Cerebellar atrophy, Short stature, Ataxia, Sensorineural hearing impairment, Dysdiadochokinesis	OMIM:612780
Fraser Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, Urethral atresia	ORPHA:2052
Faciodigitogenital Syndrome, Autosomal Recessive	Anteverted nares, Prominent nasal bridge, Trismus, Dental malocclusion, Narrow palate, Short foot...	OMIM:227330
Occipital Horn Syndrome	Ureteral obstruction, Hiatus hernia, Bladder diverticulum, High palate, Hydronephrosis, Carotid a...	OMIM:304150
Iniencephaly	Encephalocele, Rhizomelia, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dys...	ORPHA:63259
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Patent ductus arteriosus, Atrioventricular canal defect, Respiratory distress, Coarctation of aorta	OMIM:617088
9Q33.3Q34.11 Microdeletion Syndrome	Abnormal pinna morphology, Epistaxis, Microcephaly, Inability to walk, Asthma, Low-set ears, Esop...	ORPHA:495818
Vacterl With Hydrocephalus	Microtia, third degree, Spina bifida, Micrognathia, Aqueductal stenosis, Hydrocephalus, Anotia, I...	ORPHA:3412
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Low-set, posteriorly rotated ears, Mandibular prognathia, Gait ataxi...	ORPHA:457359
Mosaic Trisomy 8	Vesicoureteral reflux, High palate, Hydronephrosis, Cleft palate	ORPHA:96061
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Pancreatic cysts, Polycystic kidney dysplasia, Renal cyst	OMIM:610199
Robinow Syndrome, Autosomal Dominant 1	Micrognathia, High palate, Short palm, Micropenis, Depressed nasal bridge, Anteverted nares, Rhiz...	OMIM:180700
Spondyloocular Syndrome	Unilateral cryptorchidism, Duodenal ulcer, Mitral valve prolapse, Atrial septal defect, Dysplasti...	OMIM:605822
Magel2-Related Prader-Willi-Like Syndrome	Recurrent respiratory infections, Cryptorchidism, Xerostomia, Atrial septal defect, Decreased tes...	ORPHA:398069
Cockayne Syndrome B	Mandibular prognathia, Severe short stature, Abnormal pinna morphology, Cerebellar calcifications...	OMIM:133540
21Q22.11Q22.12 Microdeletion Syndrome	Atrial septal defect, Thrombocytopenia, Anemia	ORPHA:261323
Gerstmann-Straussler Disease	Cerebellar atrophy, Truncal ataxia, Limb ataxia, Gait ataxia	OMIM:137440
Distal Deletion 6P	Atrial septal defect, Ventriculomegaly	ORPHA:96125
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Growth delay, Cerebellar atrophy, Secondary microcephaly	ORPHA:485421
Autosomal Dominant Robinow Syndrome	Abnormal penis morphology, Wide nose, Hypoplasia of penis, Depressed nasal bridge, Anteverted nar...	ORPHA:3107
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Renal dysplasia, Recurrent respiratory infections, Duplicated collecting system, Hydroureter, Ren...	OMIM:129900
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Dysmetria, Dysdiadochokinesis, Neurodegeneration	OMIM:610217
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Holoprosencephaly, Overriding aorta, Tetralogy of Fallot	ORPHA:3186
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Inability to walk	OMIM:128100
Neurodegeneration With Brain Iron Accumulation 4	Cerebellar atrophy, Ataxia, Gait disturbance, Neurodegeneration, Loss of ambulation	OMIM:614298
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Pleural effusion, Unsteady gait, Gait ataxia	OMIM:254900
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Ventricular septal defect, Hamartoma of tongue, Cryptorchidism, Patent d...	OMIM:615948
Basal Cell Nevus Syndrome 1	Spina bifida, Hydrocephalus, Hamartomatous stomach polyps, Cardiac fibroma, Cardiac rhabdomyoma, ...	OMIM:109400
Wolf-Hirschhorn Syndrome	Accessory spleen, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Malrotation of small ...	OMIM:194190
Chromosome 17P13.1 Deletion Syndrome	Diffuse cerebral atrophy, Posteriorly rotated ears, Spina bifida, Microcephaly, Hydrocephalus	OMIM:613776
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Anteverted nares, Hypospadias, Aganglionic megacolon, Epispadias, Abno...	ORPHA:3339
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Hypoventilation, Ataxia, Cerebral cortical neurodegeneration, Cerebral atroph...	OMIM:203700
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Recurrent urinary tract infections, Renal hypoplasia	OMIM:617157
Renal Agenesis	Ventricular septal defect, Pulmonary hypoplasia, Anal atresia	ORPHA:411709
Autosomal Recessive Polycystic Kidney Disease	Hypoventilation, Renal insufficiency, Recurrent urinary tract infections, Spontaneous pneumothora...	ORPHA:731
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth...	OMIM:130050
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Cerebellar atrophy, Lateral ventricle dilatation, Short stature, Microcephaly	OMIM:618367
Atelosteogenesis Type I	Malrotation of colon, Abnormal pancreatic duct morphology, Cleft palate	ORPHA:1190
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Glomuvenous Malformation	Abnormal renal morphology, Gastrointestinal arteriovenous malformation, Arteriovenous malformatio...	ORPHA:83454
Foix-Alajouanine Syndrome	Neurogenic bladder, Urinary incontinence, Functional abnormality of the bladder, Urinary retentio...	ORPHA:79093
Spinocerebellar Ataxia-Dysmorphism Syndrome	Short nose, Anteverted nares	ORPHA:1185
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Short stature, Micrognathia	ORPHA:1064
Monosomy 9P	Ureteropelvic junction obstruction, Depressed nasal bridge, Anteverted nares, Congenital diaphrag...	ORPHA:261112
Deeah Syndrome	Hepatomegaly, Neonatal respiratory distress, Malabsorption, Narrow palate, Micropenis, High palat...	OMIM:619004
Telangiectasia, Hereditary Hemorrhagic, Type 2	Spontaneous, recurrent epistaxis, Hepatic arteriovenous malformation, Transient ischemic attack, ...	OMIM:600376
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocepha...	OMIM:268300
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Cerebellar atrophy, Sensorineural hearing impairment, Ataxia	OMIM:604121
Otopalatodigital Syndrome, Type Ii	Spina bifida, Cryptorchidism, Hydrocephalus, Respiratory insufficiency, Cleft palate, Respiratory...	OMIM:304120
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, High pa...	DECIPHER:81
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Intellectual Developmental Disorder, Autosomal Dominant 42	Neurogenic bladder, Asthma, Cleft palate, Stridor, High palate, Dysphagia, Ureteropelvic junction...	OMIM:616973
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Unilateral renal hypoplasia	OMIM:619950
Cocaine Intoxication	Respiratory distress, Glomerulonephritis, Wheezing, Tachypnea, Pneumothorax, Tubulointerstitial n...	ORPHA:90068
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated hepatic transaminase, Ventricular septal defect, Bicuspid aortic valve, High, narrow pal...	OMIM:619475
Warburg Micro Syndrome 2	Short nose, Flexion contracture, Prominent nasal bridge, Micropenis	OMIM:614225
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Ataxia, Choreoathetosis, Aspiration	ORPHA:2131
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Wheezing, Recurrent pneumonia, Epididymitis, Bronchiectasis, Prostatitis, ...	OMIM:300755
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Ventricular septal defect, Cryptorchidism, High palate, Pulmonic stenosis, Atrial septal defect, ...	OMIM:607721
Nicolaides-Baraitser Syndrome	Narrow nasal bridge, Recurrent respiratory infections, Short metacarpal, Anteverted nares, High, ...	OMIM:601358
Distal Deletion 3P	Atrioventricular canal defect	ORPHA:1620
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Cerebellar atrophy, Secondary microcephaly	OMIM:619685
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Rhizomelia, Bulbous nose, Laryng...	OMIM:271510
Atypical Werner Syndrome	Abnormality of the Achilles tendon, Skeletal muscle atrophy, Prominent superficial veins, Short p...	ORPHA:79474
Genitourinary And/Or Brain Malformation Syndrome	Micrognathia, Dysplastic corpus callosum, Protruding ear, Colpocephaly, Chiari malformation, Seco...	OMIM:618820
Congenital Disorder Of Glycosylation, Type Iia	Ventricular septal defect, Protruding tongue	OMIM:212066
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Respiratory failure, Chylothorax, Mandibular prognathia	OMIM:620278
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Hydrocephalu...	OMIM:615287
Fraser Syndrome 3	Micrognathia, Hydrocephalus, Stillbirth, Low-set ears, Simple ear	OMIM:617667
Frontometaphyseal Dysplasia	Ureteral obstruction, Urethral stenosis, Cleft palate, Abnormal heart morphology, Bifid uvula, Hy...	ORPHA:1826
Sarcoidosis	Hypercalcemia	ORPHA:797
Argininemia	Postnatal growth retardation, Cerebellar atrophy, Spastic gait	OMIM:207800
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hiatus hernia, Cryptorchi...	OMIM:616682
Autosomal Recessive Spastic Paraplegia Type 20	Hydronephrosis, Dysuria, Dysphagia	ORPHA:101000
Mosaic Monosomy X	Aortic arch aneurysm, Elevated hepatic transaminase, Arterial dissection, Bicuspid aortic valve, ...	ORPHA:99228
Monosomy X	Aortic arch aneurysm, Elevated hepatic transaminase, Arterial dissection, Bicuspid aortic valve, ...	ORPHA:99226
Turner Syndrome	Aortic arch aneurysm, Elevated hepatic transaminase, Arterial dissection, Bicuspid aortic valve, ...	ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies	Aortic arch aneurysm, Elevated hepatic transaminase, Arterial dissection, Bicuspid aortic valve, ...	ORPHA:99413
3-Methylglutaconic Aciduria, Type Viia	Cerebellar atrophy, Secondary microcephaly	OMIM:619835
Craniopharyngioma	Proportionate short stature, Postnatal growth retardation, Hydrocephalus, Growth delay, Delayed p...	ORPHA:54595
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Choreoathetosis, Ataxia, Gait imbalance, Cerebellar vermis atrophy	ORPHA:64753
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormal cerebral vascular morphology, Abnormality of the lymphatic system, Hydrocele testis, Ova...	ORPHA:276280
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Posteriorly rotated ears, Asthma, Nasal flaring, Sensorineural hearing impairment, Prominent anti...	ORPHA:466943
Rabson-Mendenhall Syndrome	Ventricular septal defect, Furrowed tongue, Cardiomyopathy, Macroglossia, High palate, Atrial sep...	ORPHA:769
Sepsis In Premature Infants	Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Abnormal respiratory system physiology, E...	ORPHA:90051
Lacrimoauriculodentodigital Syndrome	Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis	ORPHA:2363
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Ventricular septal defect, Hamartoma of tongue, Bilateral cryptorchidis...	ORPHA:434179
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Cryptorchidism, High palate, Holoprosencephaly, Patent foramen ovale	OMIM:613884
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Ventricular septal defect, Cleft palate	OMIM:178110
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Limb ataxia, Gait ataxia, Pontocerebellar atrophy, Progressive gait ataxia	OMIM:606002
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Nephrolithiasis, Proximal renal tubular acidosis, Renal tubular acidosis, Pulmonary...	ORPHA:2785
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cyst, Nephronophthi...	OMIM:266920
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Patent ductus arteriosus, Atrioventricular canal defect, Coarctation of aorta	OMIM:619480
Mosaic Trisomy 20	Ventricular septal defect, Cryptorchidism, Dysplastic tricuspid valve, Cleft palate, Abnormal mit...	ORPHA:1724
Bent Bone Dysplasia Syndrome 2	Atrial septal defect, Hepatomegaly	OMIM:620076
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Glomerulonephritis, Dyspnea, Acute tubulointerstitial...	ORPHA:340
Shwachman-Diamond Syndrome 1	Respiratory distress, Neonatal respiratory distress, Short stature	OMIM:260400
Genitopatellar Syndrome	Multicystic kidney dysplasia, Anal stenosis, Ventricular septal defect, Malrotation of small bowe...	OMIM:606170
Knobloch Syndrome 1	Duplicated collecting system, Pyloric stenosis, Patent ductus arteriosus, Bifid ureter, Hydroneph...	OMIM:267750
Weaver Syndrome	Mandibular prognathia, Retrognathia, Lateral ventricle dilatation, Cerebellar hypoplasia, Macroce...	OMIM:277590
6Q Terminal Deletion Syndrome	Low-set, posteriorly rotated ears, Micrognathia, Dysmetria, Gait ataxia, Colpocephaly, Cerebellar...	ORPHA:75857
Clapo Syndrome	Lymphangioma, Varicose veins, Venous malformation	ORPHA:168984
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Wide nose, Aplasia of the nasal bone, Anteverted...	ORPHA:93357
Cntnap2-Related Developmental And Epileptic Encephalopathy	Ataxia, Intermittent hyperventilation, Cerebellar vermis atrophy	ORPHA:163681
Toxic Epidermal Necrolysis	Respiratory distress, Restrictive ventilatory defect, Conjunctivitis, Cough, Pancreatitis	ORPHA:537
Keppen-Lubinsky Syndrome	Microcephaly, Micrognathia, Recurrent pneumonia, Upper airway obstruction, Respiratory insufficie...	OMIM:614098
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Depressed nasal bridge, Hypospadias, Urolithiasis, Hyperuricosuria, High pal...	OMIM:300661
Microphthalmia, Syndromic 3	Cryptorchidism, Patent ductus arteriosus, Esophageal atresia, Ventricular septal defect	OMIM:206900
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Short metacarpal, Hypoplastic scapulae, Depressed nasal bridge, Choanal atresia, Unilateral renal...	ORPHA:95699
Complement Factor I Deficiency	Recurrent skin infections, Glomerulonephritis, Pyelonephritis, Recurrent sinusitis, Recurrent oti...	OMIM:610984
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Microcephaly, Hydrocephalus, Low-set ears, Macrotia, Cerebral cortical atrophy	OMIM:277400
Chondrodysplasia Punctata 2, X-Linked Dominant	Hydronephrosis	OMIM:302960
Congenital Disorder Of Glycosylation, Type If	Renal cortical cysts	OMIM:609180
Witteveen-Kolk Syndrome	Congenital diaphragmatic hernia, High, narrow palate, Intracranial hemorrhage, Male urethral meat...	OMIM:613406
Peters-Plus Syndrome	Ureteral duplication, Hypospadias, Ventricular septal defect, Renal hypoplasia, Pulmonic stenosis...	OMIM:261540
Mpdu1-Cdg	Renal cortical cysts	ORPHA:79323
Mend Syndrome	Cryptorchidism, Hydrocephalus, High palate, Aortic valve stenosis, Dandy-Walker malformation	OMIM:300960
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus, Abnormal cerebellum morphology, Sensorineural hearing impairment, Unst...	ORPHA:637
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Ataxia, Abnormal auditory evoked pot...	ORPHA:909
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Skeletal muscle atrophy, Depressed nasal bridge, Hypospadias, Broad nasal tip, Micrognathia, Bulb...	OMIM:309590
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Ventricular septal defect, Hypospadias, Abnormality of...	ORPHA:821
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla...	ORPHA:95455
Livedoid Vasculopathy	Pancytopenia, Abnormal capillary morphology, Venous insufficiency, Leukocytosis, Varicose veins, ...	ORPHA:542643
Pallister-Killian Syndrome	Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Renal cyst, Anteriorly placed...	OMIM:601803
Turnpenny-Fry Syndrome	Recurrent respiratory infections, Patent ductus arteriosus, Mitral valve prolapse, High palate, T...	OMIM:618371
Coffin-Siris Syndrome 12	Elevated hepatic transaminase, Celiac disease, Cryptorchidism, Velopharyngeal insufficiency, Subm...	OMIM:619325
Molybdenum Cofactor Deficiency, Complementation Group A	Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothione, Elevated uri...	OMIM:252150
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Depressed nasal bridge, Cleft palate, Camptodactyly, Malar flattening, Short nose	OMIM:601353
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Cleft palate, Annular pancreas, Ankyloglossia, Abnormal morphology of the great vessels	ORPHA:488642
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Pancreatic cysts, Myocarditis, Cardiomyopathy, Renal cell c...	ORPHA:892
Holoprosencephaly 3	Bifid uvula, Hydronephrosis, Cleft palate	OMIM:142945
Wiedemann-Steiner Syndrome	Aplasia/Hypoplasia of the ribs, Rhizomelia, Wide nasal bridge, High palate, Gastroesophageal refl...	ORPHA:319182
Fragile X-Associated Tremor/Ataxia Syndrome	Ataxia, Dysmetria, Gait ataxia, Gait disturbance, Diffuse cerebellar atrophy, Cerebral cortical a...	ORPHA:93256
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Severe short stature, Abnormal dental enamel morphology, Hydrocephalus, Ma...	ORPHA:2658
Eec Syndrome	Hypospadias, Renal hypoplasia/aplasia, Xerostomia, Cleft palate, Urethral atresia, Vesicoureteral...	ORPHA:1896
Menke-Hennekam Syndrome 1	Narrow nasal bridge, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Microgn...	OMIM:618332
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation, Neuronal loss in central nervous system, Cerebral cortical atrophy	OMIM:607485
Lipodystrophy, Familial Partial, Type 7	Spontaneous pneumothorax, Polyuria, Pulmonary arteriovenous malformation, Narrow nasal ridge, Ple...	OMIM:606721
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Mandibular prognathia, Cerebellar vermis hypoplasia, Short stature, ...	OMIM:619841
Beckwith-Wiedemann Syndrome	Cardiomegaly, Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Cardiomyopathy, Vesicouret...	OMIM:130650
Meningioma	Ataxia, Progressive pulmonary function impairment, Abnormal cerebellum morphology, Hydrocephalus,...	ORPHA:2495
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Eczema, Hypoplasia of the maxilla, Rhinitis, Taurodontia	OMIM:305100
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Asthma, Moderate albuminuria, Hydronephrosis	OMIM:619269
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Ventricular septal defect	OMIM:609460
C Syndrome	Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Congenital diaphragmatic ...	ORPHA:1308
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Vesicoureteral reflux, Micropenis, Hypospadias, Renal hypoplasia	OMIM:309580
Aspartylglucosaminuria	Mandibular prognathia, Hepatomegaly, Recurrent respiratory infections, Aspartylglucosaminuria, Ma...	ORPHA:93
Autosomal Recessive Faciodigitogenital Syndrome	Anteverted nares, Prominent nasal bridge, Micrognathia, Short foot, High palate, Short nose	ORPHA:1974
Cartilage-Hair Hypoplasia	Hypocalcemia	ORPHA:175
Monosomy 22Q13.3	Recurrent skin infections, Hearing impairment, Dental malocclusion, Macrocephaly, Malar flattenin...	ORPHA:48652
Gabriele-De Vries Syndrome	Oral-pharyngeal dysphagia, Esophageal atresia, Ebstein anomaly of the tricuspid valve, High palat...	ORPHA:506358
Supernumerary Nostril	Abnormality of ethmoid sinus	ORPHA:141096
Noonan Syndrome 14	Posteriorly rotated ears, Lateral ventricle dilatation, Short stature, Low-set ears	OMIM:619745
Menkes Disease	Gastrointestinal hemorrhage, Malabsorption, Venous insufficiency, Arterial stenosis, Intracranial...	ORPHA:565
Baller-Gerold Syndrome	Anomalous splenoportal venous system, Hydrocephalus, Cleft palate, Abnormal heart morphology, Ant...	OMIM:218600
Functioning Gonadotropic Adenoma	Hydrocephalus, Delayed puberty	ORPHA:91348
Spinocerebellar Ataxia Type 7	Cerebellar atrophy, Ataxia, Cerebral atrophy, Dysmetria, Dysdiadochokinesis	ORPHA:94147
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Restrictive Dermopathy 1	Patent ductus arteriosus, Submucous cleft hard palate, Stillbirth, Pulmonary hypoplasia, Neonatal...	OMIM:275210
Orofaciodigital Syndrome Type 2	Tachypnea, Atrioventricular canal defect, Central retinal vessel vascular tortuosity, Apnea	ORPHA:2751
Gitelman Syndrome	Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia	ORPHA:358
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hyperkalemia, Hypocalcemia	ORPHA:544482
Acrorenal-Mandibular Syndrome	Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia	OMIM:200980
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cerebellar atrophy, Ataxia, Cholangitis, Cerebral atrophy, Tubulointerstitial nephritis, Neonatal...	OMIM:124000
Cerebrofaciothoracic Dysplasia	Cleft palate, Wide nose, Short nose	ORPHA:1394
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cryptorchidism, Splenomegaly, Abnormal pancreas morphology, Pseudohypoparathyroidis...	ORPHA:116
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Dyspnea, Submucou...	ORPHA:2636
Diphallia	Duplicated colon, Rectoperineal fistula, Cryptorchidism, Abnormal heart morphology, Atrial septal...	ORPHA:227
Oculocerebrorenal Syndrome Of Lowe	Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi...	ORPHA:534
Molybdenum Cofactor Deficiency, Complementation Group B	Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Increased urinary taurine...	OMIM:252160
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia	OMIM:613658
Oculocerebral Hypopigmentation Syndrome, Cross Type	Depressed nasal bridge, Ureteral stenosis, Anteverted nares, Short nose	ORPHA:2719
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Microcephaly, Micrognathia, Hydrocephalus, Cerebellar hypoplasia, Malar flattening, Cerebellar cy...	OMIM:253280
Coffin-Lowry Syndrome	Mandibular prognathia, Wide nose, Short metacarpal, Anteverted nares, Rectal prolapse, Dental mal...	OMIM:303600
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Cerebellar atrophy, Severe short stature, Micrognathia, Microcephaly, Intrauterine growth retarda...	OMIM:210730
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Malar flattening, Short nose, ...	OMIM:229400
Occipital Horn Syndrome	Recurrent urinary tract infections, Hiatus hernia, Venous insufficiency, High, narrow palate, Jau...	ORPHA:198
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Ventricular septal defect, Ventricular septal hypertrophy, Clef...	OMIM:608670
Acromesomelic Dysplasia 1	Short metacarpal, Short toe, Hypoplasia of the radius, Short metatarsal, Acromesomelia, Short nose	OMIM:602875
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Atrial septal defect, Pleural effusion, Chylothorax, Leukemia	ORPHA:2526
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Mitral stenosis, Ventricular septal defect, Tricuspid stenosis, High pal...	OMIM:143095
Stüve-Wiedemann Syndrome	Respiratory distress, Short stature, Apnea, Trismus, Asthma, Intrauterine growth retardation	ORPHA:3206
Proboscis Lateralis	Ventricular septal defect, Patent ductus arteriosus, High palate, Holoprosencephaly, Ventriculome...	ORPHA:141099
Hennekam Syndrome	Hypocalcemia	ORPHA:2136
Wiedemann-Rautenstrauch Syndrome	Chiari type I malformation, Agenesis of corpus callosum, Short stature, Ataxia, Low-set ears, Tru...	ORPHA:3455
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Ventricular septal defect, Bicuspid aortic valve, Cleft palate, High palate, Atrial septal defect	OMIM:271640
Isolated Arrhinia	Respiratory distress, Microtia	ORPHA:1134
Fetal Akinesia Deformation Sequence 1	Posteriorly rotated ears, Micrognathia, Hydrocephalus, Stillbirth, Cerebellar hypoplasia, Low-set...	OMIM:208150
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus, Retrognathia	ORPHA:2736
Goodpasture Syndrome	Increased blood urea nitrogen	OMIM:233450
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Submucous cleft soft palate, Submucous cleft hard palate, Ventricular septal defect, Cleft palate	ORPHA:1071
Niemann-Pick Disease Type C	Ataxia, Respiratory insufficiency, Cerebral atrophy, Respiratory failure, Progressive gait ataxia...	ORPHA:646
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Intrauterine growth retardation	OMIM:617156
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Short nose, Ureterocele	OMIM:614863
Microphthalmia With Limb Anomalies	Death in infancy, Venous insufficiency, Cryptorchidism, Hydrocephalus, Cleft palate, High palate	ORPHA:1106
Hypoplasminogenemia	Cervicitis, Hydrocephalus, Periodontitis, Dandy-Walker malformation	ORPHA:722
Caroli Disease	Polycystic kidney dysplasia	ORPHA:53035
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Calcification of the auricular cartilage, Short stature, Hydrocephalus, Gait disturbance, Conduct...	ORPHA:3042
Cutis Marmorata Telangiectatica Congenita	Displacement of the urethral meatus, Multicystic kidney dysplasia	ORPHA:1556
Dend Syndrome	Short nose, Anteverted nares	ORPHA:79134
Neurofibromatosis, Type I	Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus, Macrocephaly	OMIM:162200
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Cerebellar atrophy	OMIM:610131
Cranioectodermal Dysplasia 1	Hypocalcemia	OMIM:218330
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:93325
Microphthalmia, Syndromic 6	Renal hypoplasia	OMIM:607932
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Agenesis of corpus callosum, Delayed eruption of primary teeth	OMIM:300952
1P21.3 Microdeletion Syndrome	Short nose, Micrognathia, Broad nasal tip	ORPHA:293948
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Cerebellar h...	OMIM:300896
Focal Dermal Hypoplasia	Delayed eruption of teeth, Mixed hearing impairment, Short stature, Microcephaly, Hydrocephalus, ...	OMIM:305600
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent otitis media	OMIM:601495
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Microcephaly, Respiratory acidosis, Macrotia	OMIM:614748
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Colitis, Recurrent aphthous stomatitis, Recurrent sinusitis, Perioral eczema	OMIM:613960
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Colpocephaly, Enlarged cerebellum, Macrocephaly	ORPHA:477993
Neurofibromatosis Type 1	Short stature, Ataxia, Hydrocephalus, Macrocephaly, Delayed puberty, Hearing impairment	ORPHA:636
Pituitary Deficiency Due To Rathke Cleft Cysts	Abnormality of the sphenoid sinus, Hydrocephalus	ORPHA:91350
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Choreoathetosis, Episodic ataxia	ORPHA:1934
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas, Cleft palate	ORPHA:97297
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea	ORPHA:2330
Microphthalmia, Syndromic 1	Hydroureter, Bicuspid aortic valve, Hypospadias, Renal hypoplasia/aplasia, Renal hypoplasia	OMIM:309800
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Death in infancy, Aganglionic megacolon, Cryptorchidism, Recurrent upper respiratory tract infect...	OMIM:308205
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Renal cyst	ORPHA:495875
Caroli Syndrome	Abnormality of the kidney, Polycystic kidney dysplasia	ORPHA:480520
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional...	ORPHA:573278
Mesomelia-Synostoses Syndrome	Hydronephrosis, Absent uvula	OMIM:600383
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Recurrent respiratory infections, Hydroureter, Aganglionic megacolon, Abnormality of the kidney, ...	ORPHA:2273
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Vesicoureteral reflux, Renal cortical cysts	OMIM:618548
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Spondylometaphyseal Dysplasia, Sedaghatian Type	Atrial septal defect, Myocarditis	OMIM:250220
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect	OMIM:619727
Roberts Syndrome	Long penis, Polycystic kidney dysplasia	ORPHA:3103
Sacral Defect With Anterior Meningocele	Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract	OMIM:600145
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia	ORPHA:289176
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Proteus Syndrome	Enlarged polycystic ovaries, Long penis, Renal cyst, Pulmonary embolism	ORPHA:744
Hypermobile Ehlers-Danlos Syndrome	Apnea, Malabsorption, Venous insufficiency, Gastrointestinal dysmotility, Cystocele, Anorectal an...	ORPHA:285
Choreoacanthocytosis	Caudate atrophy, Temporomandibular joint crepitus, Arthritis, Lateral ventricle dilatation, Falls...	ORPHA:2388
Generalized Arterial Calcification Of Infancy	Respiratory distress, Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular ...	ORPHA:51608
Ulnar-Mammary Syndrome	Pyloric stenosis, Anal stenosis, Ventricular septal defect, Anal atresia	OMIM:181450
Yunis-Varon Syndrome	Ventricular septal defect, Cryptorchidism, Pyloric stenosis, Cardiomyopathy, High palate, Aspirat...	OMIM:216340
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
Autosomal Dominant Optic Atrophy And Cataract	Cerebellar atrophy, Unsteady gait, Ataxia	ORPHA:67036
Pmm2-Cdg	Respiratory distress, Mandibular prognathia, Pericarditis, Cerebellar vermis hypoplasia, Abnormal...	ORPHA:79318
Branchiooculofacial Syndrome	Renal agenesis, Hypospadias, Renal cyst	OMIM:113620
Alström Syndrome	Respiratory distress, Abnormality of dental color, Short stature, Glomerulonephritis, Ataxia, Pro...	ORPHA:64
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortu...	OMIM:175780
Cancer-Associated Retinopathy	Diffuse cerebellar atrophy	ORPHA:71505
Norrie Disease	Venous insufficiency, Cryptorchidism	ORPHA:649

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 Dnah5

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 Dnah5.

No publications found that use IMPC mice or data for Dnah5.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Dnah5^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue
Dnah5^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Dnah5^{tm1e(KOMP)Wtsi}	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: Dnah5 MGI:107718

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Adult LacZ

X-ray

X-ray

Human diseases caused by Dnah5 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data