Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Dnah5 MGI:107718

Gene Summary

Name:

dynein, axonemal, heavy chain 5

Synonyms:

Dnahc5, b2b1154Clo, b2b1565Clo, Mdnah5, 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
increased blood urea nitrogen level	Dnah5^{tm1b(KOMP)Wtsi}	HET	Early adult	9.30×10^-05
preweaning lethality, complete penetrance	Dnah5^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
increased circulating total protein level	Dnah5^{tm1b(KOMP)Wtsi}	HET	Early adult	3.52×10^-05
increased circulating calcium level	Dnah5^{tm1b(KOMP)Wtsi}	HET	Early adult	2.76×10^-06
preweaning lethality, incomplete penetrance	Dnah5^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

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
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)
Epididymis	N/A	heterozygote	50% (1 of 2)
Esophagus	N/A	heterozygote	50% (1 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
Ileum	N/A	heterozygote	50% (1 of 2)
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)
Midbrain	N/A	heterozygote	100% (2 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)
Testis	N/A	heterozygote	50% (1 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)
Vas deferens	N/A	heterozygote	50% (1 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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

Adult LacZ

LacZ Images Section

10 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

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 (3246 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		Situs inversus totalis, Recurrent sinusitis, Recurrent respiratory infections, Bronchiectasis, Ci...	OMIM:608644
Primary Ciliary Dyskinesia		Atrial situs ambiguous, Pulmonary situs ambiguus, Abnormal heart morphology, Asplenia, Bronchiect...	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	Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana...	OMIM:614779
Right Atrial Isomerism	Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Polys...	OMIM:208530
Heterotaxy, Visceral, 4, Autosomal	Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ...	OMIM:613751
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect	OMIM:601322
Heterotaxy, Visceral, 8, Autosomal	Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def...	OMIM:617205
Heterotaxy, Visceral, 7, Autosomal	Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve...	OMIM:616749
Atrioventricular Septal Defect, Susceptibility To, 2	Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran...	OMIM:606217
Ciliary Dyskinesia, Primary, 40	Unbalanced atrioventricular canal defect, Reduced respiratory ciliary beating frequency, Atrioven...	OMIM:618300
Heterotaxy, Visceral, 2, Autosomal	Bilateral superior vena cava, Left atrial isomerism, Polysplenia, Atrioventricular canal defect, ...	OMIM:605376
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Situs inversus totalis, Abdominal situs inversus, Dextrocardia	OMIM:619607
Plasma Fibronectin Deficiency	Reduced circulating fibronectin level	OMIM:614101
Laterality Defects, Autosomal Dominant	Asplenia, Situs inversus totalis, Heterotaxy	OMIM:601086
Mirror Movements 3	Situs inversus totalis	OMIM:616059
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia, Situs inversus totalis, Dextrocardia	OMIM:618948
Ciliary Dyskinesia, Primary, 53	Recurrent pneumonia, Polysplenia, Abdominal situs inversus, Situs inversus totalis, Right aortic ...	OMIM:620642
Ciliary Dyskinesia, Primary, 52	Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ...	OMIM:620570
Ciliary Dyskinesia, Primary, 3	Situs inversus totalis, Recurrent sinusitis, Recurrent respiratory infections, Bronchiectasis, Ci...	OMIM:608644
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules	Abnormal respiratory motile cilium morphology	OMIM:215520
Ciliary Dyskinesia, Primary, 23	Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Respiratory...	OMIM:615451
Congenital Heart Defects, Multiple Types, 6	Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ...	OMIM:613854
Nephronophthisis 14	Nephronophthisis, Polycystic kidney dysplasia, Situs inversus totalis	OMIM:614844
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,...	OMIM:619702
Congenital Pseudoarthrosis Of The Clavicle	Situs inversus totalis, Dextrocardia	ORPHA:66630
Ciliary Dyskinesia, Primary, 7	Recurrent pneumonia, Situs inversus totalis, Abnormal ciliary motility, Dextrocardia, Bronchiecta...	OMIM:611884
Heterotaxy, Visceral, 1, X-Linked	Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect...	OMIM:306955
Ciliary Dyskinesia, Primary, 29	Atelectasis, Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Ciliary dy...	OMIM:615872
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o...	OMIM:217095
Ciliary Dyskinesia, Primary, 16	Situs inversus totalis, Abnormal ciliary motility, Pulmonary insufficiency, Bronchiectasis, Cilia...	OMIM:614017
Ciliary Dyskinesia, Primary, 24	Immotile cilia, Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Ciliary dyskinesia	OMIM:615481
Ciliary Dyskinesia, Primary, 30	Nasal polyposis, Nasal congestion, Situs inversus totalis, Chronic bronchitis, Ventricular septal...	OMIM:616037
Nephronophthisis 16	Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Hypertrophic cardiomyopathy, Choles...	OMIM:615382
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Ciliary Dyskinesia, Primary, 27	Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Chronic sinusitis, Rhinitis, Res...	OMIM:615504
Total Anomalous Pulmonary Venous Return 1	Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia	OMIM:106700
Adamantinoma	Hypercalcemia	ORPHA:55881
Partial Atrioventricular Septal Defect	Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement...	ORPHA:1330
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Ciliary Dyskinesia, Primary, 13	Immotile cilia, Situs inversus totalis, Recurrent bronchitis, Recurrent sinusitis, Bronchiectasis...	OMIM:613193
Ciliary Dyskinesia, Primary, 28	Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Respiratory insufficiency due to...	OMIM:615505
Heterotaxy, Visceral, 5, Autosomal	Total anomalous pulmonary venous return, Abdominal situs inversus, Atrioventricular canal defect,...	OMIM:270100
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Pulmonary situs ambiguus, Abnormal heart morphology, Asplenia, Bronchiect...	ORPHA:244
Ciliary Dyskinesia, Primary, 17	Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, Bronchiectasis, Ciliary d...	OMIM:614679
Ciliary Dyskinesia, Primary, 26	Immotile cilia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Respiratory insu...	OMIM:615500
Ciliary Dyskinesia, Primary, 25	Recurrent pneumonia, Gastroesophageal reflux, Immotile cilia, Situs inversus totalis, Recurrent s...	OMIM:615482
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ...	OMIM:619657
Ciliary Dyskinesia, Primary, 18	Immotile cilia, Abdominal situs ambiguus, Situs inversus totalis, Recurrent sinusitis, Chronic br...	OMIM:614874
Fallot Complex With Severe Mental And Growth Retardation	Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect	OMIM:601127
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Ciliary Dyskinesia, Primary, 19	Nasal polyposis, Immotile cilia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis,...	OMIM:614935
Ciliary Dyskinesia, Primary, 14	Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Polysplenia, Sit...	OMIM:613807
Ciliary Dyskinesia, Primary, 22	Nasal polyposis, Immotile cilia, Situs inversus totalis, Chronic bronchitis, Recurrent sinusitis,...	OMIM:615444
Ciliary Dyskinesia, Primary, 36, X-Linked	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis	OMIM:300991
Tricuspid Atresia	Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s...	ORPHA:1209
Ciliary Dyskinesia, Primary, 32	Immotile cilia, Situs inversus totalis, Chronic sinusitis, Chronic rhinitis, Recurrent respirator...	OMIM:616481
Ciliary Dyskinesia, Primary, 10	Situs inversus totalis, Ciliary dyskinesia	OMIM:612518
Congenital Heart Defects, Multiple Types, 7	Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao...	OMIM:618780
Scimitar Syndrome	Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar...	ORPHA:185
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Hypoglossia With Situs Inversus	Asplenia, Situs inversus totalis, Polysplenia	OMIM:612776
Meacham Syndrome	Death in childhood, Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial sept...	OMIM:608978
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Ciliary Dyskinesia, Primary, 2	Nasal polyposis, Immotile cilia, Situs inversus totalis, Dextrocardia, Sinusitis, Recurrent respi...	OMIM:606763
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Right aortic arch, Dextrocardia	OMIM:617577
Ciliary Dyskinesia, Primary, 38	Immotile cilia, Situs inversus totalis, Chronic sinusitis, Dextrocardia, Rhinitis, Bronchiectasis	OMIM:618063
Ciliary Dyskinesia, Primary, 9	Pneumonia, Situs inversus totalis, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Bron...	OMIM:612444
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis	OMIM:620032
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Bardet-Biedl Syndrome 8	Situs inversus totalis	OMIM:615985
Ventricular Septal Defect 1	Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe...	OMIM:614429
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Nasal polyposis, Situs inversus totalis, Recurrent sinusitis, Chronic bronch...	OMIM:608647
Atrial Septal Defect 2	Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat...	OMIM:607941
Glycogen Storage Disease 0, Muscle	Decreased muscle glycogen content, Cardiomyopathy, Stroke, Left atrial enlargement, Left ventricu...	OMIM:611556
Holzgreve Syndrome	Hypoplastic left heart, Renal hypoplasia, Renal agenesis	OMIM:236110
Congenitally Uncorrected Transposition Of The Great Arteries	Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi...	ORPHA:860
Congenital Heart Defects, Multiple Types, 4	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect...	OMIM:615779
Spermatogenic Failure 38	Abnormal axonemal organization of respiratory motile cilia, Tapered sperm head, Abnormal sperm he...	OMIM:618433
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:618883
Renal-Hepatic-Pancreatic Dysplasia 2	Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung ...	OMIM:615415
Genitopalatocardiac Syndrome	Transposition of the great arteries, Right aortic arch, Double outlet right ventricle, Ventricula...	OMIM:231060
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Nasal polyposis, Situs inversus totalis, Recurrent sinusitis, Recurrent respiratory infections, B...	OMIM:620197
Pulmonary Atresia With Intact Ventricular Septum	Pulmonary artery atresia, Hypoplastic right heart	OMIM:265150
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Ciliary Dyskinesia, Primary, 20	Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv...	OMIM:615067
Ciliary Dyskinesia, Primary, 12	Situs inversus totalis, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br...	OMIM:612650
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia	OMIM:618313
15Q11.2 Microdeletion Syndrome	Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu...	ORPHA:261183
Ciliary Dyskinesia, Primary, 15	Recurrent pneumonia, Nasal polyposis, Situs inversus totalis, Chronic bronchitis, Chronic sinusit...	OMIM:613808
Polycystic Kidney Disease 7	Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ...	OMIM:620056
Ciliary Dyskinesia, Primary, 35	Recurrent pneumonia, Abdominal situs ambiguus, Situs inversus totalis, Bronchiectasis	OMIM:617092
Ciliary Dyskinesia, Primary, 6	Absent/shortened outer dynein arms, Abnormal respiratory motile cilium morphology	OMIM:610852
16P13.11 Microduplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ...	ORPHA:261243
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Abnor...	ORPHA:3097
Cayler Cardiofacial Syndrome	Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect	OMIM:125520
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus	ORPHA:1208
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Ciliary Dyskinesia, Primary, 1	Pneumonia, Nasal polyposis, Atelectasis, Immotile cilia, Situs inversus totalis, Recurrent bronch...	OMIM:244400
Dextrocardia	Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal lung lobation, Abnormal heart mor...	ORPHA:1666
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Neonatal death, Cirrhosis, Atrial septal defect, Hepatomegaly...	OMIM:208540
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Neonatal death, Persistent left superior vena cava, Tracheoesophag...	OMIM:314390
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:617912
Marfanoid Habitus With Situs Inversus	Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persistent left superior ven...	OMIM:609008
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia	OMIM:620085
Renal Dysplasia, Cystic, Susceptibility To	Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal...	OMIM:601331
Cardiofacioneurodevelopmental Syndrome	Abdominal situs inversus, Atrioventricular canal defect, Ventricular septal defect, Asplenia, Pul...	OMIM:619123
Cardiac Diverticulum	Aortic valve stenosis, Aplasia/Hypoplasia of the sternum, Mitral valve prolapse, Ventricular sept...	ORPHA:1686
Developmental And Epileptic Encephalopathy 102	Hepatomegaly, Situs inversus totalis, Atrial septal defect	OMIM:619881
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Ventriculomegaly, Respiratory distress, Agenesis of corpus callosum, Cerebellar hypoplasia, Prima...	ORPHA:171703
Truncus Arteriosus	Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ...	ORPHA:3384
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiomyopathy, Sideroblastic anemia, Situs inversus totalis, Thiamine-responsive megaloblastic a...	OMIM:249270
14Q24.1Q24.3 Microdeletion Syndrome	Wide nasal bridge, Short thumb, Intestinal malrotation, Abnormal heart morphology, Prominent nasa...	ORPHA:401935
Ciliary Dyskinesia, Primary, 44	Heterotaxy	OMIM:618781
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Situs inversus totalis, Primum atrial septal defect, Polysplenia, Partial atrioventricular canal ...	OMIM:619608
Short Stature-Wormian Bones-Dextrocardia Syndrome	Midshaft hypospadias, Wide nasal bridge, Delayed eruption of teeth, Camptodactyly of finger, Depr...	ORPHA:2863
Ciliary Dyskinesia, Primary, 51	Situs inversus totalis, Recurrent sinusitis, Chronic rhinitis, Recurrent respiratory infections, ...	OMIM:620438
Hydrocephaly-Low Insertion Umbilicus Syndrome	Tetralogy of Fallot, Long nose, Patent ductus arteriosus, Anomalous pulmonary venous return, Wide...	ORPHA:2184
Hypermethioninemia Due To Adenosine Kinase Deficiency	Portal fibrosis, Secundum atrial septal defect, Cholestasis, Increased CSF methionine concentrati...	OMIM:614300
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Volvulus, Duodenal stenosis, Tet...	ORPHA:210122
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n...	OMIM:613424
22Q11.2 Duplication Syndrome	Hypoplastic left heart, Interrupted aortic arch, Aplasia/Hypoplasia of the thymus, Tetralogy of F...	ORPHA:1727
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Cardiac Septal Defects With Coarctation Of The Aorta	Coarctation of aorta, Perimembranous ventricular septal defect, Secundum atrial septal defect	OMIM:212090
Cardiomyopathy, Dilated, 2H	Muscular ventricular septal defect, Secundum atrial septal defect, Neonatal death	OMIM:620203
Cardiac-Urogenital Syndrome	Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Accessory spleen, Bi...	OMIM:618280
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Cardiomyopathy, Familial Restrictive, 1	Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy	OMIM:115210
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Situs inversus totalis,...	OMIM:602088
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Cerebe...	OMIM:615268
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Secundum atrial septal defect, Decreased proportion of CD8-positive T cells, Decreased proportion...	OMIM:611926
Aminopterin/Methotrexate Embryofetopathy	Wide nasal bridge, Mesomelia, Micromelia, Tetralogy of Fallot, Micrognathia, Situs inversus total...	ORPHA:1908
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Diabetic Embryopathy	Spinal dysraphism, Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary ...	ORPHA:1926
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal...	ORPHA:1455
Nephronophthisis 20	Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren...	OMIM:617271
Agnathia-Otocephaly Complex	Microglossia, Secundum atrial septal defect, Aglossia, Micrognathia, Situs inversus totalis, Wide...	OMIM:202650
Ciliary Dyskinesia, Primary, 43	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:618699
Fetal Trimethadione Syndrome	Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Atrial septa...	ORPHA:1913
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect	OMIM:217085
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio...	OMIM:143400
Ciliary Dyskinesia, Primary, 50	Short sperm flagella, Absent inner dynein arms, Coiled sperm flagella	OMIM:620356
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Short thumb, Abnormal lung lobation, Atrioventricular canal defec...	ORPHA:1120
Seckel Syndrome 9	Pulmonary artery hypoplasia, Micrognathia, Congenital diaphragmatic hernia, Ventricular septal de...	OMIM:616777
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal...	OMIM:611555
Congenital Heart Defects, Multiple Types, 9	Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def...	OMIM:620294
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Situs inversus totalis	OMIM:615434
Ritscher-Schinzel Syndrome 2	Short distal phalanx of finger, Pulmonary artery hypoplasia, Camptodactyly of finger, Intestinal ...	OMIM:300963
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Cerebral cortical atrophy, Cerebellar hypoplasia, Cerebral cortical hemiatrophy, Hydrocephalus, A...	ORPHA:2703
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ven...	ORPHA:99125
Hadziselimovic Syndrome	Ventricular hypertrophy, Renal hypoplasia, Tetralogy of Fallot, Anteverted nares, Prominent nasal...	OMIM:612946
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h...	OMIM:108900
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr...	OMIM:617805
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul...	OMIM:613759
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Secundum atrial septal defect, Ventricular septal defect, Perimembranous ventricular septal defec...	OMIM:600987
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Situs inversus totalis, Renal...	OMIM:613095
Intellectual Developmental Disorder, Autosomal Dominant 66	Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi...	OMIM:619910
Chudley-Mccullough Syndrome	Ventriculomegaly, Cerebellar dysplasia, Dysplastic corpus callosum, Cerebellar hypoplasia, Hydroc...	OMIM:604213
Spinocerebellar Ataxia 41	Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait	OMIM:616410
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Ventricular septal defect, Neonatal death, Bicuspid aortic ...	OMIM:265380
Ciliary Dyskinesia, Primary, 46	Recurrent pneumonia, Hearing impairment, Recurrent otitis media, Recurrent sinusitis, Bronchiecta...	OMIM:619436
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Secundum atrial septal defect, Pneumothorax, Dextrocardia, ...	ORPHA:2257
Extracranial Carotid Artery Aneurysm	Vasculitis, Total anomalous pulmonary venous return, Arteritis, Atherosclerosis, Stroke, Subarach...	ORPHA:494424
Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction	Cerebellar atrophy, Cerebral atrophy, Microcephaly, Gait disturbance, Short stature	OMIM:620515
Pseudo-Torch Syndrome 2	Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Secundum atrial septal...	OMIM:617397
Spinocerebellar Ataxia 31	Cerebellar atrophy, Limb ataxia, Gait ataxia, Sensorineural hearing impairment, Ataxia	OMIM:117210
Microcephaly, Seizures, And Developmental Delay	Ventriculomegaly, Cerebellar atrophy, Microcephaly, Progressive microcephaly, Ataxia	OMIM:613402
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Elevated circulating aspartate aminotransf...	OMIM:620609
Cat Eye Syndrome	Micrognathia, Ventricular septal defect, Atrial septal defect, Rectal atresia, Absent radius, Ana...	OMIM:115470
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Hypoplastic left heart, Unilateral renal agenesis, Bilateral renal agenesis, Anomalous origin of ...	OMIM:618845
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Cerebral cortical atrophy, Ventriculomegaly, Broad-based gait, Cerebellar atrophy, Gait ataxia, P...	OMIM:617862
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu...	OMIM:614377
Chromosome 1P36 Deletion Syndrome, Proximal	Bifid nasal tip, Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Ante...	OMIM:619343
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu...	OMIM:610805
Structural Heart Defects And Renal Anomalies Syndrome	Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Death in infancy, Truncus arteri...	OMIM:617478
Holt-Oram Syndrome	Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Absent thumb, Atrioventricular canal de...	ORPHA:392
Meckel Syndrome, Type 7	Aortic valve stenosis, Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatospleno...	OMIM:267010
Bardet-Biedl Syndrome 10	Renal cyst, Renal insufficiency	OMIM:615987
Mosaic Trisomy 9	Ventriculomegaly, Abnormal lung lobation, Abnormal heart valve morphology, Intestinal malrotation...	ORPHA:99776
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A	Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Macrocephaly, Ataxia	OMIM:613925
Cardioacrofacial Dysplasia 1	Atrioventricular canal defect, Complete atrioventricular canal defect	OMIM:619142
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Hydronephrosis, Duplicated collecting system	OMIM:163850
Kallmann Syndrome-Heart Disease Syndrome	Partial anosmia, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Anomalous origin of left co...	ORPHA:2326
Aortic Valve Disease 1	Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st...	OMIM:109730
Ciliary Dyskinesia With Defective Radial Spokes	Nasal polyposis, Absent respiratory ciliary axoneme radial spokes	OMIM:242670
Double Outlet Right Ventricle	Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Tetralogy of Fallot, Intestinal malrota...	ORPHA:3426
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent pneumonia, Secundum atrial septal defect,...	OMIM:614868
Tetraamelia Syndrome 2	Microretrognathia, Ankyloglossia, Bilateral lung agenesis, Micrognathia, Amelia, Ventricular sept...	OMIM:618021
Cardiomyopathy, Familial Hypertrophic, 25	Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti...	OMIM:617610
Atrioventricular Septal Defect 5	Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect	OMIM:614474
Colonic Atresia	Abnormal mesentery morphology, Abdominal situs inversus	ORPHA:1198
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia	ORPHA:1759
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia, Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Right v...	OMIM:253700
Ciliary Dyskinesia, Primary, 21	Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia	OMIM:615294
Cardioacrofacial Dysplasia 2	Atrioventricular canal defect, Common atrium, Left superior vena cava draining to coronary sinus	OMIM:619143
Cardiomyopathy, Dilated, 2J	Dilated cardiomyopathy, Secundum atrial septal defect	OMIM:620635
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia	OMIM:616963
Atrial Fibrillation, Familial, 6	Left atrial enlargement, Left ventricular hypertrophy	OMIM:612201
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Secundum atrial septal defect, Leukocyte inclusion bodies	OMIM:223350
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Lessel-Kubisch Syndrome	Renal hypoplasia, Renal insufficiency	OMIM:618681
46,Xx Sex Reversal 5	Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect	OMIM:618901
Megalencephaly, Autosomal Dominant	Hydrocephalus, Macrocephaly	OMIM:155350
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619909
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopa...	OMIM:612158
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Classic Multiminicore Myopathy	Muscular dystrophy, Microretrognathia, Muscle fiber atrophy, Multiple joint contractures, Mitral ...	ORPHA:324604
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Microglossia, Aplasia/Hypoplasia involving the nose, Situs inversus totalis, Absent nares, Mandib...	ORPHA:990
Microcephaly-Capillary Malformation Syndrome	Short distal phalanx of finger, Hypoplasia of the maxilla, Vesicoureteral reflux, Patent foramen ...	OMIM:614261
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do...	OMIM:220210
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Pulmonary hypoplasia, Arteria lusoria, A...	ORPHA:99050
Microlissencephaly	Pneumonia, Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Microcephaly	ORPHA:1083
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Endocardial...	OMIM:601493
Atrial Septal Defect 1	Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,...	OMIM:108800
Cardiomyopathy, Familial Hypertrophic, 21	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Myofiber disarray, Mitral valve prolapse	OMIM:614676
Congenital Tricuspid Valve Dysplasia	Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ...	ORPHA:555874
Diamond-Blackfan Anemia 7	Secundum atrial septal defect, Increased mean corpuscular volume, Tetralogy of Fallot, Esophagiti...	OMIM:612562
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Distal 7Q11.23 Microdeletion Syndrome	Patent ductus arteriosus, Atrial septal defect	ORPHA:254351
8p23.1 deletion syndrome	Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect	DECIPHER:39
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Microcephaly, Short stature, Waddling gait	OMIM:619090
Whim Syndrome 2	Tetralogy of Fallot	OMIM:619407
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly, Gait disturbance, Macrocephaly	OMIM:611808
Muscle Filaminopathy	Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o...	ORPHA:171445
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development	Right aortic arch with mirror image branching	OMIM:107500
Venous Malformations, Multiple Cutaneous And Mucosal	Venous malformation	OMIM:600195
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Neutropenia, Hepatomegaly, Recurrent lower respiratory tract inf...	OMIM:612541
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Dysmetria, Sensorineural...	OMIM:616291
Heart Defects, Congenital, And Other Congenital Anomalies	Interrupted aortic arch, Colon perforation, Microcolon, Total absence of the pericardium, Hypopla...	OMIM:600001
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Secundum atrial septal defect, Cardiomyopathy, Patent foramen ovale, High palate, Patent ductus a...	OMIM:616866
Left Ventricular Noncompaction 1	Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop...	OMIM:604169
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy	Microcephaly, Cerebellar atrophy, Brain atrophy, Sensorineural hearing impairment	OMIM:618741
Meier-Gorlin Syndrome 8	Unilateral renal hypoplasia, Nephroptosis	OMIM:617564
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Gait ataxia, Ventriculomegaly, Jaw swelling, Cerebellar atrophy	OMIM:619323
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency	Cerebellar vermis atrophy, Difficulty walking, Limb ataxia, Truncal ataxia, Brain atrophy	ORPHA:363432
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral artery hypoplasia, Anal stenosis, Aplasia of posterior communicating artery, Situs inve...	OMIM:613686
Spinocerebellar Ataxia Type 31	Gait ataxia, Cerebellar atrophy, Hearing impairment	ORPHA:217012
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis	OMIM:178650
Indomethacin Embryofetopathy	Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Ventricular septa...	ORPHA:1909
Bronchopulmonary Dysplasia	Atelectasis, Emphysema, Abnormal lung morphology, Pulmonary sequestration, Right ventricular hype...	ORPHA:70589
Paget Disease Of Bone 6	Nephrocalcinosis, Left ventricular hypertrophy, Coronary artery atherosclerosis	OMIM:616833
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Situs inversus totalis	OMIM:614833
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti...	OMIM:616726
Lissencephaly 4	Agenesis of corpus callosum, Cerebellar hypoplasia, Colpocephaly, Primary microcephaly, Short sta...	OMIM:614019
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Dilated cardiomyopathy, Quadriceps muscle weakness, Elbow flexion contracture, Abnormality of the...	ORPHA:206546
Cerebral Palsy, Ataxic, Autosomal Recessive	Broad-based gait, Cerebellar atrophy, Dysdiadochokinesis	OMIM:605388
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ventriculomegaly, Macrocephaly, Microcephaly, Hydrocephalus, Ataxia	OMIM:618709
Atrial Septal Defect 9	Bicuspid aortic valve, Secundum atrial septal defect	OMIM:614475
Spinocerebellar Ataxia, Autosomal Recessive 24	Spastic gait, Gait ataxia, Limb ataxia, Cerebellar atrophy	OMIM:617133
Tetralogy Of Fallot	Tetralogy of Fallot	OMIM:187500
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Mediastinal lymphadenopathy, Pulmonary capillary hemangiomatosis, Pulmonary venous occlusion	OMIM:234810
Bardet-Biedl Syndrome 17	Anosmia, Stage 5 chronic kidney disease, Situs inversus totalis, Renal cyst, Polyuria, Dextrocard...	OMIM:615994
Familial Nasal Acilia	Abnormal respiratory motile cilium morphology	ORPHA:922
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Global brain atrophy, Cerebellar atrophy, Hypoplasia of the pons, Inability to walk, Dysplastic c...	OMIM:618276
Recombinant Chromosome 8 Syndrome	Ventriculomegaly, Tetralogy of Fallot, Ventricular septal defect, Double outlet right ventricle, ...	OMIM:179613
Cardiomyopathy, Dilated, 1S	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial...	OMIM:613426
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Bardet-Biedl Syndrome 19	Hypoplastic left heart, Renal hypoplasia, Renal insufficiency, Partial atrioventricular canal def...	OMIM:615996
Masa Syndrome	Ventriculomegaly, Shuffling gait, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Macro...	OMIM:303350
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Wide nasal bridge, Depressed nasal bridge, Gastroesophageal reflux, Intes...	OMIM:618316
Heart Defects-Limb Shortening Syndrome	Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb shortening, Abnormal mitral valve ...	ORPHA:1354
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Abnormal respiratory motile cilium morphology	OMIM:225050
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Cerebellar atrophy, Chiari type I malformation, Microcephaly, Ataxia, Spastic gait	OMIM:619742
Pineocytoma	Difficulty walking, Increased CSF protein concentration, Hydrocephalus, Episodic ataxia	ORPHA:251912
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Macroglossia, Transposition of the great arteries, Patent foramen ovale	OMIM:616789
Thomas Syndrome	Hypoplastic left heart, Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Ciliary Dyskinesia, Primary, 11	Immotile cilia, Recurrent sinusitis, Chronic rhinitis, Short stature, Bronchiectasis, Ciliary dys...	OMIM:612649
Pagod Syndrome	Hypoplastic left heart, Pulmonary artery hypoplasia, Multicystic kidney dysplasia, Situs inversus...	ORPHA:991
White Forelock With Malformations	Atrial septal defect, Prominent veins on trunk	OMIM:277740
Isolated Congenital Hypoglossia/Aglossia	Aspiration pneumonia, Respiratory distress, Temporomandibular joint ankylosis, Micrognathia, Dysp...	ORPHA:141152
Keutel Syndrome	Wide nasal bridge, Depressed nasal bridge, Pulmonary artery hypoplasia, Peripheral pulmonary arte...	OMIM:245150
Spinocerebellar Ataxia 45	Gait ataxia, Limb ataxia, Cerebellar atrophy	OMIM:617769
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Interrupted aortic arch, Hypoplastic tricuspid valve, Pancreatic hypoplasia, Congenital defect of...	ORPHA:2255
Autosomal Spastic Paraplegia Type 30	Diffuse cerebellar atrophy, Scissor gait, Ataxia, Spastic gait, Unsteady gait	ORPHA:101010
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Ventriculomegaly, Hydrocephalus, Macrocephaly	OMIM:615938
Diaphragmatic Hernia 4, With Cardiovascular Defects	Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Diaphragmatic eventration, Aorti...	OMIM:620025
Spinocerebellar Ataxia Type 5	Gait disturbance, Cerebellar atrophy	ORPHA:98766
Chops Syndrome	High, narrow palate, Gastroesophageal reflux, Aspiration pneumonia, Horseshoe kidney, Anteverted ...	OMIM:616368
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Inability to walk, Cerebellar atrophy, Ataxia	OMIM:619333
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia...	OMIM:614954
Ventricular Septal Defect 3	Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:614432
Poland Syndrome	Hypoplasia of latissimus dorsi muscle, Absence of pectoralis minor muscle, Hypoplasia of deltoid ...	OMIM:173800
Spastic Paraplegia 32, Autosomal Recessive	Difficulty walking, Spastic gait, Cerebellar atrophy, Cerebral atrophy	OMIM:611252
Pulmonary Hypertension, Primary, 1	Arterial intimal fibrosis, Pulmonary artery vasoconstriction, Pulmonary aterial intimal fibrosis,...	OMIM:178600
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Joint contracture of the hand, Retrognathia, Cardiomyopathy, Skeletal mu...	OMIM:300280
Heart And Brain Malformation Syndrome	Interrupted aortic arch, Dandy-Walker malformation, High, narrow palate, Ventricular septal defect	OMIM:616920
Desmosterolosis	Bifid uvula, Depressed nasal bridge, Abnormality of the nose, Retrognathia, Micromelia, Intestina...	ORPHA:35107
Spinocerebellar Ataxia Type 30	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia	ORPHA:211017
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ga...	ORPHA:95430
14Q11.2 Microdeletion Syndrome	Depressed nasal bridge, Micrognathia, Ventricular septal defect, High palate, Patent ductus arter...	ORPHA:261120
Pseudohypoparathyroidism Type 2	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:94090
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Microcephaly, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy	OMIM:618730
Biliary, Renal, Neurologic, And Skeletal Syndrome	Unbalanced atrioventricular canal defect, Lateral ventricle dilatation, Cholestasis, Congenital h...	OMIM:619534
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia	ORPHA:2668
Developmental And Epileptic Encephalopathy 76	Inability to walk, Microcephaly, Cerebellar atrophy, Cerebral atrophy	OMIM:618468
Retinitis Pigmentosa 6	Immotile cilia	OMIM:312612
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Atrial septal defect, Death in childhood, Ventricular septal de...	OMIM:253300
Atrial Septal Defect 5	Secundum atrial septal defect	OMIM:612794
Cardiomyopathy, Familial Hypertrophic, 20	Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:613876
Atrial Septal Defect 3	Secundum atrial septal defect	OMIM:614089
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Increased endomysi...	ORPHA:353
Multiple Myeloma	Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia	ORPHA:29073
Atrial Septal Defect 4	Coarctation of aorta, Atrial septal defect, Patent foramen ovale	OMIM:611363
Cutis Laxa, Autosomal Recessive, Type Ic	Wide nasal bridge, Peripheral pulmonary artery stenosis, Multiple bladder diverticula, Gastroesop...	OMIM:613177
Leukodystrophy, Hypomyelinating, 14	Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Microcephaly, Growth delay	OMIM:617899
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Microcephaly, Ataxia, Gr...	OMIM:614322
Peroxisome Biogenesis Disorder 8A (Zellweger)	Elevated circulating aspartate aminotransferase concentration, Death in infancy, Ventricular sept...	OMIM:614876
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Leukemia, Secundum atrial septal defect, Hydrocephalus, Dilation of Virchow-Robin spaces	OMIM:619951
Criss-Cross Heart	Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th...	ORPHA:1461
Nescav Syndrome	Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Inability to walk, Microcephaly,...	OMIM:614255
Alagille Syndrome 2	Renal hypoplasia, Tetralogy of Fallot, Renal insufficiency, Renal tubular acidosis, Proteinuria, ...	OMIM:610205
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Usher Syndrome, Type 1M	Left ventricular hypertrophy	OMIM:618632
Pseudotrisomy 13 Syndrome	Complete atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Atrial s...	OMIM:264480
Bardet-Biedl Syndrome 16	Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Renal dysplasia	OMIM:615993
Paternal Uniparental Disomy Of Chromosome 5	Secundum atrial septal defect	ORPHA:96190
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Ciliary Dyskinesia, Primary, 34	Absent central microtubular pair morphology of respiratory motile cilia	OMIM:617091
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Truncal ataxia, Microcephaly, Cerebellar atrophy, Cerebral atrophy	OMIM:611726
Developmental And Epileptic Encephalopathy 66	Ventricular septal defect, Atrial septal defect, Neutropenia, Dextrocardia, Anemia	OMIM:618067
Ciliary Dyskinesia, Primary, 45	Immotile cilia	OMIM:618801
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Cerebellar hypoplasia, Micrognathia, Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart	OMIM:241550
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus	ORPHA:228190
Autosomal Recessive Spondylocostal Dysostosis	Depressed nasal bridge, Camptodactyly of finger, Abnormality of the ureter, Anteverted nares, Con...	ORPHA:2311
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega...	ORPHA:251380
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Global brain atrophy, Cerebellar atrophy, Aplasia of the inferior half of the c...	OMIM:610185
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect	OMIM:617992
Velocardiofacial Syndrome	Interrupted aortic arch, Right aortic arch with mirror image branching, Velopharyngeal insufficie...	OMIM:192430
Fatty Acyl-Coa Reductase 1 Deficiency	Cerebellar atrophy, Inability to walk, Progressive microcephaly, Dandy-Walker malformation, Short...	ORPHA:438178
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Recurrent lower respiratory tract infections, High palate, Secundum atrial septal defect	OMIM:620194
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Ventriculomegaly, Hydrocephalus, Macrocephaly	OMIM:615937
8P23.1 Microdeletion Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ...	ORPHA:251071
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Difficulty walking, Dysmetria, P...	ORPHA:284332
Cardiomyopathy, Dilated, 1Kk	Hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Left ventricular hypertrophy, Dilate...	OMIM:615248
Myofibrillar Myopathy 10	Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Left ventricular ...	OMIM:619040
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:2239
Weiss-Kruszka Syndrome	Ventriculomegaly, Dextrotransposition of the great arteries, Ventricular septal defect, Bicuspid ...	OMIM:618619
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Pulmonary venous occlusion, Interlobular septal thickening	OMIM:265450
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia	OMIM:207731
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Ventricular septal defect, Overriding aorta, Atrial septal defect, Patent ductus arteriosus, Vasc...	OMIM:601927
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
Spinocerebellar Ataxia 37	Unsteady gait, Cerebellar atrophy, Ataxia	OMIM:615945
Atypical Teratoid Rhabdoid Tumor	Ataxia, Hydrocephalus, Macrocephaly	ORPHA:99966
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Hypoplastic left heart	OMIM:617661
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Hypertrophic cardiomyopathy, Bifid uvula, Ventriculomegaly, Secundum atrial septal defect	OMIM:619121
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Transposition of the great arteries, Spina bifida occul...	OMIM:617877
Spinocerebellar Ataxia Type 38	Difficulty walking, Gait ataxia, Cerebellar atrophy	ORPHA:423296
Intellectual Developmental Disorder, Autosomal Recessive 72	Secundum atrial septal defect	OMIM:618665
Monosomy 18Q	Aortic valve stenosis, Secundum atrial septal defect, Absence of the pulmonary valve, Dysplastic ...	ORPHA:1600
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect	OMIM:617616
Cardiomyopathy, Familial Hypertrophic, 18	Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:613874
Cardiomyopathy, Dilated, 1U	Left ventricular hypertrophy, Dilated cardiomyopathy	OMIM:613694
Thoracoabdominal Syndrome	Transposition of the great arteries, Hydrocephalus, Ectopia cordis, Anencephaly, Patent ductus ar...	OMIM:313850
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Ventriculomegaly, Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricul...	OMIM:620066
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Dextrotransposition of the great arteries, High palate, Lateral ventricle dilatation, Ventricular...	OMIM:619995
1Q21.1 Microduplication Syndrome	Tetralogy of Fallot, Hydrocephalus	ORPHA:250994
Spinocerebellar Ataxia Type 41	Cerebellar vermis atrophy, Gait ataxia	ORPHA:458798
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E...	OMIM:618052
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Wide nasal bridge, Broad nasal tip, Retrognathia, Intestinal malrotation...	OMIM:615524
Carpenter Syndrome 1	Polysplenia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries,...	OMIM:201000
Spinocerebellar Ataxia Type 37	Diffuse cerebellar atrophy, Falls, Cerebellar vermis atrophy, Limb dysmetria, Sensorineural heari...	ORPHA:363710
Microcephaly 30, Primary, Autosomal Recessive	Ventriculomegaly, Cleft soft palate, Secundum atrial septal defect	OMIM:620183
Ceroid Lipofuscinosis, Neuronal, 8	Cerebellar atrophy, Cerebral atrophy, Increased neuronal autofluorescent lipopigment, Loss of amb...	OMIM:600143
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal hear...	ORPHA:3400
Feingold Syndrome 1	Interrupted aortic arch, Accessory spleen, Annular pancreas, Polysplenia, Duodenal atresia, Ventr...	OMIM:164280
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
8P23.1 Duplication Syndrome	Hydronephrosis, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect	ORPHA:251076
Desmosterolosis	Total anomalous pulmonary venous return, Hypoplastic nasal bridge, Joint contracture of the hand,...	OMIM:602398
Autosomal Recessive Spastic Paraplegia Type 32	Difficulty walking, Cerebellar cortical atrophy, Abnormal pons morphology	ORPHA:171622
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Tetralogy of Fallot, Persistent left superior vena cava, Overriding aorta, Double outlet right ve...	ORPHA:3304
Congenital Disorder Of Glycosylation, Type Iie	Secundum atrial septal defect, Decreased liver function, Elevated circulating aspartate aminotran...	OMIM:608779
Lethal Osteosclerotic Bone Dysplasia	Low-set ears, Retrognathia, Respiratory distress, Intrauterine growth retardation, Micrognathia, ...	ORPHA:1832
Monosomy 13Q34	Common atrium, Hepatic steatosis, Pulmonic stenosis	ORPHA:96168
Atrial Fibrillation, Familial, 10	Stroke, Left atrial enlargement, Left ventricular hypertrophy, Right ventricular dilatation	OMIM:614022
Renal Coloboma Syndrome	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal...	ORPHA:1475
Microphthalmia, Syndromic 9	Micrognathia, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defect, S...	OMIM:601186
Hydrocephalus, Congenital, 1	Ventriculomegaly, Hydrocephalus	OMIM:236600
Renpenning Syndrome	High, narrow palate, Mandibular prognathia, Skeletal muscle atrophy, Broad columella, Prominent n...	ORPHA:3242
Sweeney-Cox Syndrome	Velopharyngeal insufficiency, Median cleft palate, Patent foramen ovale, Anal atresia, Asplenia, ...	OMIM:617746
Blue Diaper Syndrome	Hypercalcemia, Hyperphosphatemia	ORPHA:94086
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Micrognathia, Vesicoureteral reflux, Abnormal aortic morphology, Abnormality...	ORPHA:1166
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus	OMIM:604381
Asplenia, Isolated Congenital	Asplenia, Howell-Jolly bodies, Thrombocytosis	OMIM:271400
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Gait ataxia, Diffuse cerebral at...	OMIM:615362
Burn-Mckeown Syndrome	Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Abnormal cardiac septum mor...	ORPHA:1200
Diamond-Blackfan Anemia 16	Anemia, Atrial septal defect, Pulmonic stenosis	OMIM:617408
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	ORPHA:86812
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Ventriculomegaly, Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal defect, Coarctation o...	OMIM:620210
Spinocerebellar Ataxia 43	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Ataxia	OMIM:617018
Coenzyme Q10 Deficiency, Primary, 8	Flexion contracture, Left ventricular hypertrophy, Abnormal renal corticomedullary differentiatio...	OMIM:616733
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	High palate, Secundum atrial septal defect	OMIM:620242
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Ventricular hypertrophy, Left ventricular hypertrophy, Increased urine succinate level	OMIM:619048
Heme Oxygenase 1 Deficiency	Diffuse alveolar hemorrhage, Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphade...	OMIM:614034
Hypoplastic Left Heart Syndrome	Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic...	ORPHA:2248
Isotretinoin-Like Syndrome	Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,...	ORPHA:2306
Fried Syndrome	Hearing impairment, Abnormal cerebellum morphology, Gait disturbance, Hydrocephalus, Macrotia	ORPHA:85335
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Tetralogy of Fallot, Multiple renal cysts	ORPHA:3033
Down Syndrome	Narrow palate, Macroglossia, Secundum atrial septal defect, Polycythemia, Tetralogy of Fallot, At...	ORPHA:870
Congenital Heart Defects, Multiple Types, 2	Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea...	OMIM:614980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Dilated cardiomyopathy, Encephalocele, Transposition of the great arteries, Atrial septal defect,...	OMIM:253800
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Cerebellar atrophy, Intrauterine growth retardation, Abnormal lateral ventricle morphology, Gait ...	ORPHA:488635
Intellectual Developmental Disorder, Autosomal Recessive 65	Secundum atrial septal defect, Atrial septal defect	OMIM:618109
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus, Partial absence of cerebellar vermis, Truncal ataxia, Ag...	OMIM:220200
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve...	ORPHA:477817
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Microcephaly, Ventriculomegaly, Inability to walk	OMIM:617977
Atrial Septal Defect, Sinus Venosus Type	Stroke, Right ventricular dilatation, Anomalous pulmonary venous return	ORPHA:99105
Auriculocondylar Syndrome 2A	Low-set ears, Mandibular condyle aplasia, Cleft at the superior portion of the pinna, Hearing imp...	OMIM:614669
Marden-Walker Syndrome	High, narrow palate, Renal hypoplasia, Pulmonary hypoplasia, Joint contracture of the hand, Conge...	OMIM:248700
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Hydronephrosis, Bifid uvula, Abnormality of the urinary system	ORPHA:2669
Spinocerebellar Ataxia, Autosomal Recessive 13	Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Dilated fourth vent...	OMIM:614831
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Microcephaly, Gait disturbance, Skin rash	ORPHA:26
Down Syndrome	Duodenal stenosis, Tetralogy of Fallot, Atrioventricular canal defect, Protruding tongue, Complet...	OMIM:190685
Aortic Arch Interruption	Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Sys...	ORPHA:2299
Spinocerebellar Ataxia 30	Cerebellar atrophy, Ataxia	OMIM:613371
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Strok...	ORPHA:1457
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Left ventricular hypertrophy, Stroke-like episode, Myopathy, Ragged-red muscle fibers	OMIM:540000
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hepatic failure, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Double ...	OMIM:614886
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Recurrent respiratory infections, Secundum atrial septal defect, Hepatic failure	OMIM:619758
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Dysmetria, Microcephaly, Central apnea, Short ...	ORPHA:320385
Autosomal Recessive Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Bifid uvula, Retrognathia, Abnormal heart valve morph...	ORPHA:169186
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Interrupted aortic arch, Absent gallbladder, Ventricular septal defect, Atrial septal defect, Thr...	ORPHA:163979
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Nephropathy, Aminoaciduria, Nephrocalcinosis, Reduced renal corticomedullary differentiation, Mic...	OMIM:208085
Aica-Ribosiduria Due To Atic Deficiency	Secundum atrial septal defect	OMIM:608688
Gómez-López-Hernández Syndrome	Low-set ears, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Hydrocephalus, Ataxia...	ORPHA:1532
Meckel Syndrome	Accessory spleen, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Situs inversus totalis, Ence...	ORPHA:564
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Anteverted nares, Micrognathia, Cleft palate, Short nose	ORPHA:2015
Immunodeficiency 51	Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc...	OMIM:613953
17Q21.31 Microduplication Syndrome	Anteverted nares, Micrognathia, Malar flattening, High palate, Short nose	ORPHA:217340
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Bifid uvula, Secundum atrial septal defect, Pulmonic stenosis, Enlarged sylvian cistern	OMIM:615802
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Intrauterine growth retardation, Mi...	OMIM:616171
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	High-frequency hearing impairment, Otitis media, Chronic sinusitis	OMIM:300455
Loeffler Endocarditis	Aortic valve stenosis, Restrictive cardiomyopathy, Endocardial fibrosis, Abnormal heart valve mor...	ORPHA:75566
Mesoaxial Hexadactyly And Cardiac Malformation	Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect	OMIM:249670
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Absent pubertal growth spurt, Cerebellar atrophy, Hearing impairment, Neurodegeneration, Gait ata...	ORPHA:438134
Megabladder, Congenital	Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ...	OMIM:618719
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi...	ORPHA:617
Folinic Acid-Responsive Seizures	Broad-based gait, Frontotemporal cerebral atrophy, Cerebellar atrophy, Respiratory distress, Diff...	ORPHA:79097
Transaldolase Deficiency	Biventricular hypertrophy, Hepatosplenomegaly, Coarctation of aorta, Cirrhosis, Atrial septal def...	ORPHA:101028
Keutel Syndrome	Depressed nasal bridge, Short distal phalanx of finger, Underdeveloped nasal alae, Recurrent sinu...	ORPHA:85202
Adams-Oliver Syndrome 4	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:615297
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Interrupted aortic arch, Abnormal mitochondrial shape, Elevated circulating hepatic transaminase ...	ORPHA:17
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, D...	OMIM:174000
1Q21.1 Microdeletion Syndrome	Interrupted aortic arch, Ankyloglossia, Hydrocephalus, Abnormal cardiac septum morphology, High p...	ORPHA:250989
Developmental And Epileptic Encephalopathy 36	Low-set ears, Microretrognathia, Cerebral atrophy, Microcephaly, Hydrocephalus, Macrocephaly	OMIM:300884
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomenon, Stroke-li...	OMIM:300845
Gaisböck Syndrome	Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin...	ORPHA:90041
Thakker-Donnai Syndrome	Tetralogy of Fallot, Communicating hydrocephalus, Ventricular septal defect, Tracheoesophageal fi...	ORPHA:1780
Cantu Syndrome	Wide nasal bridge, Depressed nasal bridge, Congenital hypertrophy of left ventricle, Anteverted n...	OMIM:239850
Combined Oxidative Phosphorylation Deficiency 30	Left ventricular hypertrophy, Gastroesophageal reflux	OMIM:616974
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Inferior cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Cerebellar ataxia as...	OMIM:224050
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:1937
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Ververi-Brady Syndrome	High palate, Transposition of the great arteries	OMIM:617982
Intellectual Developmental Disorder, Autosomal Recessive 47	Mitral valve prolapse	OMIM:616193
Craniofacioskeletal Syndrome	Interrupted aortic arch, Absent gallbladder, Ventricular septal defect, Atrial septal defect, Pat...	OMIM:300712
Meckel Syndrome, Type 1	Malformation of the hepatic ductal plate, Accessory spleen, Ventriculomegaly, Occipital encephalo...	OMIM:249000
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Rhizomelia, Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ...	ORPHA:2838
Sodium-Dependent Multivitamin Transporter Deficiency	Microcephaly, Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy	OMIM:618973
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia	OMIM:152800
Tetrasomy 15Q26	Hydrocephalus, Atrial septal defect, High palate, Hypoplastic aortic arch, Patent ductus arterios...	OMIM:614846
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Cerebellar vermis atrophy, Inability to walk, Corpus callosum atrophy, Ataxia	OMIM:619389
Congenital Gerbode Defect	Bacterial endocarditis, Ventricular septal defect, Constrictive pericarditis, Perimembranous vent...	ORPHA:99095
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Catel-Manzke Syndrome	Ventriculomegaly, Ventricular septal defect, Atrial septal defect, Glossoptosis, Cleft palate	ORPHA:1388
Ellis Van Creveld Syndrome	Short distal phalanx of finger, Hydroureter, Delayed eruption of teeth, Micromelia, Emphysema, Ab...	ORPHA:289
Epilepsy, Progressive Myoclonic, 8	Falls, Cerebellar atrophy, Limb ataxia, Gait disturbance, Atrophy/Degeneration affecting the brai...	OMIM:616230
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive	Microcephaly, Cerebellar atrophy	OMIM:615596
Activated Pi3K-Delta Syndrome	Pneumonia, Hearing impairment, Recurrent otitis media, Chronic sinusitis, Microcephaly, Arthritis...	ORPHA:397596
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Ventricular sep...	OMIM:613404
Noonan Syndrome 8	Hypertrophic cardiomyopathy, Pleural effusion, Ventricular septal defect, Left ventricular hypert...	OMIM:615355
Fragile X Syndrome	Cerebral cortical atrophy, Macrocephaly, Otitis media, Protruding ear, Sinusitis, Mandibular prog...	ORPHA:908
Chromosome 13Q33-Q34 Deletion Syndrome	Wide nasal bridge, Penoscrotal transposition, Pulmonary hypoplasia, Choanal atresia, Delayed erup...	OMIM:619148
Hepatorenocardiac Degenerative Fibrosis	Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Reduced renal corticomedullary differentiati...	OMIM:619902
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Endocardial fibrosis, Hypertrophic cardiomyopathy, Left atrial enlarg...	OMIM:608751
Isolated Agammaglobulinemia	Pneumonia, Otitis media, Skin rash, Arthritis, Sinusitis, Inflammatory abnormality of the eye, Sh...	ORPHA:229717
Attrv122I Amyloidosis	Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal enteric ...	ORPHA:85451
Distal Duplication 5Q	Carious teeth, Absent thumb, Prominent nasal bridge, Micrognathia, Ventricular septal defect, Hyp...	ORPHA:96097
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Feingold Syndrome Type 1	Interrupted aortic arch, Duodenal atresia, Abnormal heart morphology, Multiple muscular ventricul...	ORPHA:391641
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus, Periodontitis, Hearing impairment	ORPHA:1008
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Glossitis, Anemia, Tracheoesophageal fistula, Megaloblastic anemia, Atrial septal d...	OMIM:277380
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Anteriorly placed anus, Underdeveloped nasal alae, Hydronephrosis, Dex...	ORPHA:2315
Split-Hand/Foot Malformation 3	Renal hypoplasia	OMIM:246560
Marden-Walker Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Multicystic kidney dysplasia, Micrognathia...	ORPHA:2461
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Cardiomyopathy, Familial Hypertrophic, 14	Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:613251
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Hemothorax, Pulmon...	ORPHA:199241
Supravalvular Aortic Stenosis	Peripheral arterial stenosis, Pulmonary artery stenosis, Pulmonic stenosis	OMIM:185500
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation, Macrocephaly	OMIM:607091
Fixed Subaortic Stenosis	Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep...	ORPHA:3092
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Interphalangeal thumb joint contracture, Bulbous nose, Prominent nasal bridge, Ventricular septal...	OMIM:613870
Spinocerebellar Ataxia 11	Cerebellar atrophy, Gait imbalance, Gait ataxia, Limb ataxia, Truncal ataxia, Progressive cerebel...	OMIM:604432
Spinocerebellar Ataxia Type 43	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Unsteady gait, Progressive cerebellar ataxia	ORPHA:497764
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Spinocerebellar Ataxia 23	Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Agenesis of corpus callosum, Neuronal lo...	OMIM:610245
Congenital Toxoplasmosis	Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Cardiomegaly, Anemia, ...	ORPHA:858
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:146200
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia	ORPHA:3204
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Coarctation of aorta, Dextrocardia, High palate	OMIM:618929
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Hepatomegaly...	OMIM:613496
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Urethral obstruction, Renal hypoplasia, Renal dysplasia, Urinary bladder wall hypertrophy	OMIM:601389
Congenital Fibrinogen Deficiency	Micropenis, Left ventricular hypertrophy, Right ventricular hypertrophy, Volvulus	ORPHA:335
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Proximal muscle weakness in lower limbs, Small hand, Aortic root aneurysm, Atrial septal defect, ...	ORPHA:280633
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Muscular dystrophy, Left ventricular hypertrophy, Micropenis, Macroglossia, Flexion contracture, ...	OMIM:613156
Hemophagocytic Syndrome Associated With An Infection	Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia	ORPHA:158048
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Bardet-Biedl Syndrome 3	Renal hypoplasia	OMIM:600151
Leukodystrophy, Hypomyelinating, 17	Growth delay, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Microcephaly, Mandibular p...	OMIM:618006
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventriculomegaly, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Vascular ring	OMIM:603387
Weiss-Kruszka Syndrome	Abnormal heart morphology, Prominent nasal tip, Short nose	ORPHA:502430
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Ataxia, Secondary microcephaly, Inability to walk, Cerebellar hypoplasia, Hydrocephalus, Macrocep...	OMIM:618174
Combined Immunodeficiency, X-Linked	Pneumonia, Otitis media, Sinusitis	OMIM:312863
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Congenital Disorder Of Glycosylation, Type Iin	Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Cerebellar vermis atrophy, Inability to...	OMIM:616721
Hydrocephalus, Autosomal Dominant	Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Ellis-Van Creveld Syndrome	Common atrium, Atrial septal defect, Dandy-Walker malformation	OMIM:225500
Cardiomyopathy, Dilated, 1V	Left ventricular hypertrophy, Dilated cardiomyopathy	OMIM:613697
Ceroid Lipofuscinosis, Neuronal, 11	Cerebellar atrophy, Ataxia	OMIM:614706
Multiple Mitochondrial Dysfunctions Syndrome 6	Cerebellar atrophy, Hearing impairment, Secondary microcephaly, Inability to walk, Dysmetria, Atr...	OMIM:617954
Global Developmental Delay With Or Without Impaired Intellectual Development	Lateral ventricle dilatation, Ventricular septal defect, Atrial septal defect, Pulmonary sequestr...	OMIM:618330
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Transient ischemic attack, Anomalous origin of the left common carotid artery from the...	ORPHA:99104
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Chronic otitis media, Bronchiectasis, Agenesis of corpus callosum	OMIM:619466
Adams-Oliver Syndrome 5	Splenomegaly, Patent foramen ovale, Esophageal varix, Right atrial enlargement, Right ventricular...	OMIM:616028
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Hypercalcemia	ORPHA:99879
Even-Plus Syndrome	Renal hypoplasia, Recurrent urinary tract infections, Vesicoureteral reflux, Patent foramen ovale...	OMIM:616854
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	High, narrow palate, Increased variability in muscle fiber diameter, Type 1 muscle fiber predomin...	OMIM:612949
Hyperlysinemia	Depressed nasal ridge, Hyperlysinuria, Gastroesophageal reflux, Pulmonary artery hypoplasia, Recu...	ORPHA:2203
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness	Hydronephrosis, Hydroureter, Pulmonic stenosis	OMIM:264140
8P Inverted Duplication/Deletion Syndrome	High, narrow palate, Wide nasal bridge, Small hypothenar eminence, Contractures of the large join...	ORPHA:96092
Hemidystonia-Hemiatrophy Syndrome	Abnormal paranasal sinus morphology, Rhizomelic leg shortening, Advanced pneumatization of crania...	ORPHA:306741
Isolated Cleft Lip	Situs inversus totalis	ORPHA:199302
Mitochondrial Complex I Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Skeletal muscle atrophy	OMIM:618228
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys...	OMIM:616127
Dystonia With Cerebellar Atrophy	Cerebellar atrophy, Progressive cerebellar ataxia	OMIM:611694
Oligomeganephronia	Unilateral renal agenesis, Secundum atrial septal defect, Bilateral renal hypoplasia, Decreased g...	ORPHA:2260
Testicular Anomalies With Or Without Congenital Heart Disease	Tetralogy of Fallot, Perineal hypospadias, Corpus cavernosum hypoplasia, Microphallus	OMIM:615542
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Micrognathia, Atrial septal defect, Torticollis, Aplasia/hypoplasia of the femur, High palate, Ha...	OMIM:609945
Czeizel-Losonci Syndrome	Ureteral agenesis, Micrognathia, Hydronephrosis, Tracheoesophageal fistula, Dextrocardia, Congeni...	ORPHA:2437
Aicardi-Goutieres Syndrome 4	Low-set ears, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Intrauterine growth retarda...	OMIM:610333
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Familial Visceral Myopathy	Abdominal situs inversus	ORPHA:2604
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Cerebellar atrophy, Protruding ear, Microcephaly, Hydrocephalus	OMIM:618302
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities	Low-set ears, Ventriculomegaly, Cerebellar atrophy, Retrognathia, Cerebral atrophy, Intrauterine ...	OMIM:620428
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Frank-Ter Haar Syndrome	Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal defect, Patent foramen o...	OMIM:249420
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Chromosome 15Q25 Deletion Syndrome	Polysplenia, Coronary artery fistula, Macrocytic anemia, Ventricular septal defect, Abnormal card...	OMIM:614294
Hypomagnesemia 4, Renal	Hypomagnesemia	OMIM:611718
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni...	ORPHA:217563
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Atopic dermatitis, Otitis media, Recurrent bacterial upper respiratory tract infections, Sinusiti...	ORPHA:70593
Joubert Syndrome	Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Situs inversus totalis	ORPHA:475
Wolf-Hirschhorn Syndrome	Abdominal situs inversus, Abnormal heart valve morphology, Abnormality of the gallbladder, Atrial...	ORPHA:280
Cach Syndrome	Cerebellar atrophy, Lateral ventricle dilatation, Cerebral atrophy, Cerebellar vermis atrophy, In...	ORPHA:135
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia	ORPHA:1116
Mitochondrial Complex I Deficiency, Nuclear Type 19	Ventriculomegaly, Cerebellar atrophy, Secondary microcephaly, Inability to walk, Loss of ambulati...	OMIM:618241
Developmental And Epileptic Encephalopathy 109	Left ventricular hypertrophy	OMIM:620145
Spinocerebellar Ataxia, Autosomal Recessive 2	Cerebellar vermis atrophy, Dilated fourth ventricle, Limb ataxia, Gait ataxia, Dysmetria, Cerebel...	OMIM:213200
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Proximal 16P11.2 Microdeletion Syndrome	Ventriculomegaly, Abnormal heart morphology, Abnormal aortic valve morphology, Atrial septal defe...	ORPHA:261197
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Increased urine alpha-ketoglutarate concentration, Left ventricular hypertrophy	OMIM:614458
Infantile Sialic Acid Storage Disease	Splenomegaly, Death in childhood, Cardiomegaly, Hydrocephalus, Hepatomegaly, Vacuolated lymphocyt...	OMIM:269920
Ceroid Lipofuscinosis, Neuronal, 10	Low-set ears, Ataxia, Cerebellar atrophy, Cerebral atrophy, Apnea, Neonatal death, Microcephaly, ...	OMIM:610127
Mucolipidosis Type Iii Alpha/Beta	Depressed nasal bridge, Recurrent upper respiratory tract infections, Oligosacchariduria, Keratan...	ORPHA:423461
Noonan Syndrome 12	Ventriculomegaly, Anteriorly placed anus, Tetralogy of Fallot, Lymphopenia, Ventricular septal de...	OMIM:618624
Wolcott-Rallison Syndrome	Elevated circulating hepatic transaminase concentration, Exocrine pancreatic insufficiency, Acute...	ORPHA:1667
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	Diffuse cerebellar atrophy, Ventriculomegaly, Broad-based gait, Retrocerebellar cyst, Difficulty ...	ORPHA:363429
Tangier Disease	Distal amyotrophy, Atherosclerosis, Facial diplegia, Splenomegaly, Coronary artery atherosclerosi...	OMIM:205400
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Mitochondrial Complex I Deficiency, Nuclear Type 12	Cerebellar atrophy, Progressive sensorineural hearing impairment, Gait imbalance, Ataxia, Unstead...	OMIM:301020
Stormorken Syndrome	Howell-Jolly bodies, Stroke-like episode, Subarachnoid hemorrhage, Thrombocytopenia, Anemia, Aspl...	OMIM:185070
Hemochromatosis, Type 5	Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir...	OMIM:615517
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Hypocalcemia	OMIM:619073
Congenital Hydrocephalus	Ventriculomegaly, Sensorineural hearing impairment, Colpocephaly, Hydrocephalus, Macrocephaly, Po...	ORPHA:2185
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus, Ventricular septal defect	OMIM:619717
Pentalogy Of Cantrell	Polysplenia, Tetralogy of Fallot, Abnormal pericardium morphology, Absent gallbladder, Encephaloc...	ORPHA:1335
Combined Oxidative Phosphorylation Defect Type 23	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Right ventricular hypertrophy	ORPHA:444013
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait	OMIM:617917
Aortic Aneurysm, Familial Thoracic 7	Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection	OMIM:613780
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Megarectum, Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Leukopenia...	OMIM:301056
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Renal hypoplasia, Hypoplasia of penis, Ventricular septal defect	ORPHA:2256
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Bifid uvula, Increased mean corpuscular volume, Persistence of hemoglobi...	OMIM:612561
Progressive Non-Infectious Anterior Vertebral Fusion	Abdominal situs inversus	ORPHA:2062
Holoprosencephaly 5	Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph...	OMIM:609637
Phaver Syndrome	Depressed nasal bridge, Short thumb, Camptodactyly of finger, Ventricular septal defect, Coarctat...	ORPHA:2876
Renpenning Syndrome 1	Wide nasal bridge, Renal hypoplasia, Joint contracture of the hand, Mandibular prognathia, Tetral...	OMIM:309500
2,4-Dienoyl-Coa Reductase Deficiency	Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Increased CSF lactate, Intrauterine growt...	OMIM:616034
Ring Chromosome 8 Syndrome	Hydronephrosis, Abnormality of the ureter	ORPHA:1450
Orofaciodigital Syndrome Xvii	Micropenis, Renal hypoplasia, Tetralogy of Fallot	OMIM:617926
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia	OMIM:241600
Hypophosphatasia	Hypercalcemia	ORPHA:436
Congenital Disorder Of Glycosylation, Type Iii	Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Microcephaly, Atrophy/Degeneration affe...	OMIM:613612
Congenital Myopathy 11	Patent ductus arteriosus, Elevated circulating hepatic transaminase concentration, Atrial septal ...	OMIM:619967
Refractory Celiac Disease	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Complete Atrioventricular Septal Defect	Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph...	ORPHA:1329
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Asymmetric septal hypertrophy, Left ventricular hypertrophy	OMIM:613838
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Ven...	OMIM:614576
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Abnormal heart morphology, Tetralogy of Fallot, Abnormal inf...	ORPHA:980
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Alexander Disease	Increased CSF protein concentration, Dysmetria, Abnormal dentate nucleus morphology, Progressive ...	OMIM:203450
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Choanal atresia, Depressed nasal bridge, Abnormal heart morphology, Bulb...	ORPHA:284169
Smooth Muscle Dysfunction Syndrome	Pulmonary artery dilatation, Intestinal malrotation, Dilatation of the cerebral artery, Aortic ar...	OMIM:613834
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Spinocerebellar Ataxia Type 15/16	Gait ataxia, Cerebellar atrophy, Ataxia	ORPHA:98769
Spinocerebellar Ataxia, Autosomal Recessive 15	Gait ataxia, Unsteady gait, Cerebellar atrophy, Ataxia	OMIM:615705
Bardet-Biedl Syndrome 4	Renal cyst, Abnormality of the kidney	OMIM:615982
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Bilateral lung agenesis, Neonatal death, Coarctation of aorta, Abnormal cardiac septum morphology...	OMIM:601612
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Tetralogy Of Fallot	Tetralogy of Fallot	ORPHA:3303
Isolated Succinate-Coq Reductase Deficiency	Distal amyotrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Vesicoureteral reflux, K...	ORPHA:3208
Fetal Encasement Syndrome	Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydroguanosine level, Tetralogy of Fallot, Bilate...	OMIM:613630
Spinocerebellar Ataxia Type 35	Cerebellar atrophy, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetria, Progressive cerebell...	ORPHA:276193
Intellectual Developmental Disorder, X-Linked 91	Short 5th finger, Small hand, High palate, Short foot, Short nose	OMIM:300577
Spinocerebellar Ataxia, Autosomal Recessive 6	Cerebellar atrophy, Gait ataxia, Dysmetria, Ataxia, Short stature	OMIM:608029
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Nemaline Myopathy 9	High palate, Cleft palate, Ventricular septal defect	OMIM:615731
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Stroke, Sinus venosus ...	ORPHA:1478
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedullary cyst...	OMIM:603860
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Total anomalous pulmonary venous return, Abnormal heart morphology, Abnormality of the lymphatic ...	ORPHA:487796
9q subtelomeric deletion syndrome	Abnormal heart morphology, Anteverted nares, Protruding tongue, Short nose	DECIPHER:52
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Ataxia	OMIM:141500
Alg3-Cdg	Decreased liver function, Cardiomyopathy, Dandy-Walker malformation, Coarctation of the descendin...	ORPHA:79321
Familial Aortic Dissection	Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular...	ORPHA:229
Cenani-Lenz Syndactyly Syndrome	Renal hypoplasia, Ectopic kidney, Renal agenesis, Pulmonic stenosis	OMIM:212780
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Cerebellar atrophy, Cerebellar hypoplasia, Atrophy/Degeneration affecting the brainstem, Ataxia, ...	OMIM:619971
Encephalocraniocutaneous Lipomatosis	Aortic valve stenosis, Interrupted aortic arch, Ventriculomegaly, Abnormal aortic morphology, Tri...	ORPHA:2396
Adams-Oliver Syndrome 6	Truncus arteriosus, Renal hypoplasia, Ventricular septal defect	OMIM:616589
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Pontocerebellar Hypoplasia, Type 6	Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, In...	OMIM:611523
Synaptic Congenital Myasthenic Syndromes	Mandibular prognathia, Skeletal muscle atrophy, Hand muscle weakness, Type 1 muscle fiber predomi...	ORPHA:98915
Microcephaly-Cardiomyopathy Syndrome	High, narrow palate, Ventriculomegaly, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Feingold Syndrome Type 2	Jejunal atresia, Ventricular septal defect	ORPHA:391646
Aortic Aneurysm, Familial Thoracic 4	Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Po...	OMIM:132900
Christianson Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Gait ataxia, Microcephaly, Aplas...	ORPHA:85278
Infantile Cerebellar-Retinal Degeneration	Cerebral cortical atrophy, Cerebellar atrophy, Sensorineural hearing impairment, Microcephaly, Pr...	OMIM:614559
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Hypercalcemia, Elevated creatine kinase after exercise	ORPHA:284426
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Cerebral atrophy, Cerebellar vermis atrophy, Microcephaly, Dandy-Walker malformation, Growth dela...	OMIM:616154
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Dysmetria, Ataxia, Truncal ataxia, Unsteady gait	OMIM:616948
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Do...	ORPHA:371428
Yuan-Harel-Lupski Syndrome	Aortic root aneurysm, Ventricular septal defect, Bicuspid aortic valve, Double outlet right ventr...	OMIM:616652
Cranioacrofacial Syndrome	Pulmonic stenosis, Ventricular septal defect	OMIM:122850
3C Syndrome	Aortic valve stenosis, Micrognathia, Abnormal mitral valve morphology, Ventricular septal defect,...	ORPHA:7
Joubert Syndrome 22	Renal hypoplasia	OMIM:615665
Immunodeficiency 95	Respiratory distress, Recurrent viral upper respiratory tract infections, Recurrent viral pneumonia	OMIM:619773
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Ketonuria, Aspiration pneumonia, Left ventricular noncompaction, Patent f...	OMIM:619167
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas...	OMIM:267700
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Inability to walk, Cerebellar atrophy, Agenesis of corpus callosum	OMIM:618324
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent pneumonia, Inflammatory abnormality of the skin, Recurrent upper respiratory tract infe...	ORPHA:277
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level	OMIM:601198
Amyotrophic Lateral Sclerosis 3	Cerebellar atrophy	OMIM:606640
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Renal And Mullerian Duct Hypoplasia	Horseshoe kidney, Anteriorly displaced urethral meatus, Renal hypoplasia	OMIM:266810
Congenital Rubella Syndrome	Splenomegaly, Abnormality of the pulmonary artery, Ventricular septal defect, Anemia, Atrial sept...	ORPHA:290
Mitral Valve Prolapse 3	Mitral valve prolapse	OMIM:610840
Mitral Valve Prolapse 2	Mitral valve prolapse	OMIM:607829
Cardiac Valvular Dysplasia 1	Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis...	OMIM:212093
Febrile Infection-Related Epilepsy Syndrome	Sinusitis	ORPHA:163703
Ceroid Lipofuscinosis, Neuronal, 7	Neurodegeneration, Cerebellar atrophy, Cerebral atrophy, Ataxia	OMIM:610951
Dystonia 23	Cerebral cortical atrophy, Gait disturbance, Cerebellar atrophy	OMIM:614860
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia	OMIM:256300
Band Heterotopia	Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocephalus, Macro...	OMIM:600348
Peroxisome Biogenesis Disorder 6A (Zellweger)	Renal cyst	OMIM:614870
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Micropenis, Renal hypoplasia, Hypospadias, Renal agenesis	ORPHA:171839
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia	OMIM:612089
Robinow Syndrome, Autosomal Dominant 3	Wide nasal bridge, Depressed nasal bridge, Mesomelia, Dental malocclusion, Anteriorly placed anus...	OMIM:616894
Verheij Syndrome	Renal hypoplasia, Renal agenesis, Truncus arteriosus, Ventricular septal defect, Renal cyst	OMIM:615583
Joubert Syndrome 30	Ventriculomegaly, Cerebellar atrophy, Apnea, Agenesis of corpus callosum, Tachypnea, Superior cer...	OMIM:617622
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Pulmonary artery atresia, Retrognathia, Bulbous nose, Patent foramen ovale, Ventricular septal de...	OMIM:620113
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Anemia, Secundum atrial septal defect, Thrombocytopenia	OMIM:620072
Autosomal Agammaglobulinemia	Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Conjunctivitis, Chroni...	ORPHA:33110
Congenital Neuronal Ceroid Lipofuscinosis	Low-set ears, Ventriculomegaly, Cerebellar atrophy, Aplasia/Hypoplasia of the external ear, Apnea...	ORPHA:168486
Peho-Like Syndrome	Ventriculomegaly, Progressive microcephaly, Cerebellar atrophy, Retrognathia	OMIM:617507
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Choanal atresia, Small hand, Gastroesophageal reflux, Retrognathia, Narrow nose, Anteverted nares...	OMIM:301044
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Congenital diaphragmatic hernia, Ventricular septal defect, Hep...	OMIM:312870
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
X-Linked Agammaglobulinemia	Recurrent pneumonia, Hepatitis, Osteomyelitis, Skin rash, Sensorineural hearing impairment, Arthr...	ORPHA:47
Coenzyme Q10 Deficiency, Primary, 7	Hypoplastic left heart, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal...	OMIM:616276
Aortic Aneurysm, Familial Thoracic 8	Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort...	OMIM:615436
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Wide nasal bridge, Anal stenosis, Peripheral pulmonary artery stenosis, Broad nasal tip, Vesicour...	OMIM:614749
Fliedner-Zweier Syndrome	Ventricular septal defect, Bicuspid aortic valve, Anal atresia, Tracheoesophageal fistula, Mening...	OMIM:620511
Isolated Dandy-Walker Malformation	Tetralogy of Fallot, Dandy-Walker malformation, Encephalocele, Cleft palate	ORPHA:217
Burn-Mckeown Syndrome	Unilateral renal agenesis, Renal hypoplasia, Atrial septal defect, Ventricular septal defect	OMIM:608572
Phenobarbital Embryopathy	Tetralogy of Fallot, Abnormal mitral valve morphology	ORPHA:1919
Agammaglobulinemia 4, Autosomal Recessive	Recurrent otitis media, Recurrent pneumonia, Chronic sinusitis	OMIM:613502
Leukodystrophy, Hypomyelinating, 21	Cerebellar atrophy, Microcephaly, Corpus callosum atrophy, Ataxia, Athetosis, Growth delay	OMIM:619310
Juvenile Huntington Disease	Ventriculomegaly, Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, A...	ORPHA:248111
Mungan Syndrome	Pulmonic stenosis, Renal hypoplasia, Vesicoureteral reflux, Perimembranous ventricular septal defect	OMIM:611376
Ogden Syndrome	Ventricular septal defect, Pulmonary edema, Bicuspid aortic valve, Atrial septal defect, Jaundice...	OMIM:300855
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Coarctation of aorta, Right aortic arch	OMIM:140850
Aortic Valve Disease 3	Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi...	OMIM:618496
Craniotelencephalic Dysplasia	Low-set, posteriorly rotated ears, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcepha...	ORPHA:1528
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Depressed nasal bridge, Renal hypoplasia, Anteverted nares, Ventricular septal defect, Pulmonary ...	ORPHA:75389
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, Limb ataxia, Cerebellar hypoplasia, Truncal ataxia, Unsteady gait	OMIM:615768
Dandy-Walker Malformation With Postaxial Polydactyly	Low-set ears, Microretrognathia, Dilated fourth ventricle, Partial absence of cerebellar vermis, ...	OMIM:220220
Ring Chromosome 12 Syndrome	High, narrow palate, Secundum atrial septal defect	ORPHA:1439
Pancreatic And Cerebellar Agenesis	Secundum atrial septal defect, Pancreatic hypoplasia, Death in infancy, Anemia, Pancreatic aplasia	OMIM:609069
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope...	OMIM:606003
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Recurrent respiratory infections, Ciliary dyskinesia	ORPHA:1882
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Renal hypoplasia, Ketonuria	OMIM:619053
Autosomal Recessive Spastic Paraplegia Type 74	Difficulty walking, Cerebellar atrophy	ORPHA:468661
Hardikar Syndrome	Hepatosplenomegaly, Cleft soft palate, Bilateral cleft palate, Ventricular septal defect, Atrial ...	OMIM:301068
Myopathy And Diabetes Mellitus	Tip-toe gait, Respiratory distress, Inability to walk, Sensorineural hearing impairment, Progress...	ORPHA:2596
Lissencephaly Syndrome, Norman-Roberts Type	Low-set ears, Microretrognathia, Cerebellar atrophy, Respiratory distress, Intrauterine growth re...	ORPHA:89844
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Cerebellar atrophy, Cerebral atrophy, Increased neuronal autofluorescent lipopigment	OMIM:610003
Spinocerebellar Ataxia, X-Linked 1	Unsteady gait, Cerebellar atrophy, Ataxia	OMIM:302500
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus, Dextrocardia, Lymphangioma, Patent ductus arteriosus, Pyl...	ORPHA:1571
Aortic Aneurysm, Familial Thoracic 10	Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary artery atheroscle...	OMIM:617168
Coenzyme Q10 Deficiency, Primary, 5	Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy	OMIM:614654
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Cerebellar atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait	ORPHA:284271
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Anteverted nares, Delayed eruption of permanent teeth, Short nose, Ventricular septal defect	OMIM:618506
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Congenital Tracheal Stenosis	Hypoplastic left heart, Abnormal lung morphology, Meckel diverticulum, Duodenal stenosis, Abnorma...	ORPHA:141127
Spinocerebellar Ataxia 38	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Atrophy/Degeneration affecting the brainstem...	OMIM:615957
Fryns Syndrome	Abnormal aortic arch morphology, Ventriculomegaly, Tetralogy of Fallot, Intestinal malrotation, A...	ORPHA:2059
Epilepsy, Progressive Myoclonic, 11	Cerebellar vermis hypoplasia, Cerebellar atrophy, Ataxia	OMIM:618876
Distal Triplication 15Q	Abnormal heart morphology, Atrial septal defect, Hydrocephalus, High palate, Hypoplastic aortic a...	ORPHA:314588
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc...	ORPHA:268
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Fanconi Anemia, Complementation Group O	Abnormal heart morphology, Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst, Rectal atr...	OMIM:613390
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Stuve-Wiedemann Syndrome 2	Eczematoid dermatitis, Respiratory distress, Intrauterine growth retardation, Neonatal death, Sti...	OMIM:619751
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Cog7-Cdg	Cerebellar atrophy, Retrognathia, Postnatal growth retardation, Micrognathia, Progressive microce...	ORPHA:79333
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia	OMIM:613845
Pulmonary Hypertension, Primary, 5	Right ventricular hypertrophy	OMIM:265400
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2	Secondary microcephaly, Growth delay, Inability to walk, Cerebellar atrophy	OMIM:617086
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Ureteral agenesis, Renal cyst, Renal hypoplasia, Renal dysplasia	OMIM:236500
Leukoencephalopathy, Progressive, With Ovarian Failure	Neurodegeneration, Cerebellar atrophy, Lateral ventricle dilatation, Ataxia	OMIM:615889
Gracile Bone Dysplasia	Ankyloglossia, Death in infancy, Hydrocephalus, Asplenia, Hypoplastic spleen	OMIM:602361
Feingold Syndrome 2	Intestinal atresia, Ventricular septal defect	OMIM:614326
Vacterl Association With Hydrocephalus	Abnormal heart morphology, Renal hypoplasia	OMIM:276950
Neurodevelopmental Disorder With Dystonia And Seizures	Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Intrauterine growth retardation,...	OMIM:619922
Corpus Callosum, Partial Agenesis Of, X-Linked	Inferior cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar hypoplasia, Microcephaly, Hyd...	OMIM:304100
Spinocerebellar Atrophy With Pupillary Paralysis	Spinocerebellar atrophy	OMIM:183100
Lissencephaly 5	Cerebellar vermis hypoplasia, Occipital encephalocele, Hearing impairment, Cerebellar hemisphere ...	OMIM:615191
Floating-Harbor Syndrome	Mesocardia, Persistent left superior vena cava, Coarctation of aorta, Atrial septal defect, Celia...	OMIM:136140
Prune Belly Syndrome	Multicystic kidney dysplasia, Hydroureter, Volvulus, Recurrent respiratory infections, Recurrent ...	ORPHA:2970
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydranencephaly, Cerebellar agenesis, Cerebellar hypoplasia, Hydrocephalus, Hol...	OMIM:617967
Ceroid Lipofuscinosis, Neuronal, 5	Cerebral cortical atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Dy...	OMIM:256731
Deafness, Dystonia, And Cerebral Hypomyelination	Cerebellar atrophy, Cerebral atrophy, Intrauterine growth retardation, Sensorineural hearing impa...	OMIM:300475
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hydroureter, Duodenal stenosis, Camptodactyly of finger, Micrognathia, Hypoplasia of penis, Paten...	ORPHA:2547
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Unilateral renal agenesis, Renal hypoplasia, Abnormal heart morphology, Patent foramen ovale, Ven...	OMIM:618494
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Myocardial fibrosis	OMIM:613873
Digeorge Syndrome	Interrupted aortic arch, High, narrow palate, Recurrent pneumonia, Right aortic arch with mirror ...	OMIM:188400
Intellectual Developmental Disorder, Autosomal Dominant 21	Ventriculomegaly, Coarctation of aorta, Atrial septal defect, Patent ductus arteriosus, Cleft palate	OMIM:615502
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Microcephaly, Broad-based gait, Hydrocephalus	OMIM:619470
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Tetralogy of Fallot, Congenital diaphragmatic hernia, Atrial septal defe...	OMIM:300887
Drug-Induced Lupus Erythematosus	Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci...	ORPHA:231111
Congenital Disorder Of Glycosylation, Type Iibb	Low-set ears, Cerebellar vermis hypoplasia, Cerebellar atrophy, Antalgic gait, Microcephaly, Macr...	OMIM:620546
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Cardiomyopathy, Renal insufficiency, Renal tubular acidosis, Renal cyst, Renal ...	OMIM:614922
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourth ventricle, Gait ataxia, Dysmetria, ...	ORPHA:1170
Floating-Harbor Syndrome	Tetralogy of Fallot, Mesocardia, Persistent left superior vena cava, Coarctation of aorta, Atrial...	ORPHA:2044
Cerebellar Atrophy, Developmental Delay, And Seizures	Cerebellar atrophy	OMIM:617643
Congenital Muscular Dystrophy Without Intellectual Disability	Ventriculomegaly, Cerebellar atrophy, Tip-toe gait, Difficulty walking, Microcephaly, Cerebellar ...	ORPHA:370980
Pontocerebellar Hypoplasia, Type 3	Low-set ears, Cerebellar atrophy, Hearing impairment, Hypoplasia of the pons, Cerebral atrophy, C...	OMIM:608027
Maternal Phenylketonuria	Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Ventricular septal defect...	ORPHA:2209
Viss Syndrome	Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Cleft soft palate, Micro...	OMIM:619472
Spinocerebellar Ataxia 35	Cerebellar atrophy, Difficulty walking, Dysmetria, Loss of ambulation, Ataxia	OMIM:613908
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Li-Ghorbani-Weisz-Hubshman Syndrome	Ventriculomegaly, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:618974
You-Hoover-Fong Syndrome	Double aortic arch, Coarctation of aorta, Vascular ring	OMIM:616954
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5...	OMIM:120330
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin	ORPHA:86816
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas...	ORPHA:97362
Severe X-Linked Intellectual Disability, Gustavson Type	Recurrent upper respiratory tract infections, Lateral ventricle dilatation, Dilated fourth ventri...	ORPHA:3078
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tet...	ORPHA:2847
Holt-Oram Syndrome	Hypoplastic left heart, Secundum atrial septal defect, Abdominal situs inversus, Muscular ventric...	OMIM:142900
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Dysmetria, Gait...	OMIM:618090
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Recurrent pneumonia, Gastroesophageal reflux, Camptodactyly of finger, Micrognathia, Short nose	ORPHA:1495
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Lacticaciduria	OMIM:604273
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar atrophy, Cerebral atrophy, Intrauterine growth retardation, Micrognathia, Agenesis of ...	OMIM:615095
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	High, narrow palate, Abnormal lung lobation, Abnormal aortic morphology, Truncus arteriosus, Vent...	ORPHA:2516
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Inability to walk, Cerebellar dysplasia, Cerebellar hypoplasia, Mic...	OMIM:613155
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Wide nasal bridge, Short femur, Hypertrophic cardiomyopathy, Anteverted nares, Micrognathia, Pleu...	OMIM:616897
Li-Campeau Syndrome	Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:619189
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation, Cerebral atrophy, Micrognathia, Cerebellar hypoplasia, Primary micr...	OMIM:618266
Non-Distal Duplication 10Q	Depressed nasal bridge, Micrognathia, Convex nasal ridge, High palate, Short nose	ORPHA:1695
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Spastic ataxia, Cerebellar atrophy	ORPHA:496756
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis, Aganglionic megacolon, Anal atresia	OMIM:235760
Spinocerebellar Ataxia, Autosomal Recessive 4	Gait ataxia, Microcephaly, Cerebellar atrophy, Ataxia	OMIM:607317
Cardiomyopathy, Familial Hypertrophic, 10	Hypertrophic cardiomyopathy, Asymmetric septal hypertrophy, Ventricular septal hypertrophy, Left ...	OMIM:608758
Pontocerebellar Hypoplasia, Type 14	Cerebellar hypoplasia, Hydrocephalus, Hypoplasia of the pons, Agenesis of corpus callosum	OMIM:619301
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Left ventricular ...	OMIM:615418
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal cardiac septum morphology, Short nose	ORPHA:2370
Thanatophoric Dysplasia Type 2	Ventriculomegaly, Encephalocele, Atrial septal defect, Aplasia/Hypoplasia of the lungs, Hydroceph...	ORPHA:93274
Spinocerebellar Ataxia 40	Broad-based gait, Gait ataxia, Dysmetria, Pontocerebellar atrophy, Ataxia, Unsteady gait, Dysdiad...	OMIM:616053
Alg13-Cdg	Abnormal lateral ventricle morphology, Global brain atrophy	ORPHA:324422
Mitochondrial Complex I Deficiency, Nuclear Type 15	Intrauterine growth retardation, Cerebellar atrophy, Hearing impairment, Neonatal death	OMIM:618237
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Cerebellar atrophy, Retrognathia, Inability to walk, Gait ataxia, Enamel hypoplasia, Ataxia	OMIM:617915
Glucose-Galactose Malabsorption	Hypercalcemia, Hypernatremia	ORPHA:35710
Developmental And Epileptic Encephalopathy 99	Ventriculomegaly, Frontotemporal cerebral atrophy, Cerebellar atrophy, Microcephaly, Central apne...	OMIM:619606
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ventriculomegaly, Death in infancy, Neonatal death, Ventricular septal defect, Hepatomegaly	OMIM:613730
Spinocerebellar Ataxia Type 25	Diffuse cerebellar atrophy, Gait ataxia, Abnormal cerebellar cortex morphology, Progressive cereb...	ORPHA:101111
Congenital Disorder Of Glycosylation, Type Iiaa	Unilateral renal agenesis, Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of...	OMIM:620454
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ...	OMIM:610338
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Complete atrioventricular canal defect	ORPHA:476126
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati...	OMIM:618061
Diets-Jongmans Syndrome	Broad nasal tip, Congenital diaphragmatic hernia, Heterotaxy, Ventricular septal defect, Interrup...	OMIM:618846
Congenital Disorder Of Glycosylation, Type Iig	Wide nasal bridge, Small hand, Rhizomelia, Anteverted nares, Micrognathia, Renal insufficiency, H...	OMIM:611209
Intellectual Developmental Disorder, Autosomal Dominant 72	Micropenis, Renal hypoplasia	OMIM:620439
Fetal Minoxidil Syndrome	Ventricular septal defect	ORPHA:1918
Lowry-Maclean Syndrome	High, narrow palate, Choanal atresia, Hypoplasia of the maxilla, Talon cusp, Retrognathia, Atriov...	ORPHA:2409
Spinocerebellar Ataxia, Autosomal Recessive 14	Cerebellar atrophy, Gait ataxia, Dysmetria, Unsteady gait, Dysdiadochokinesis	OMIM:615386
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Cerebellar atrophy, Cerebral atrophy, Dysmetria, Loss of ambulation, Corpus callosum atrophy, Ata...	OMIM:618088
Teebi Hypertelorism Syndrome 1	Wide nasal bridge, Depressed nasal bridge, Small hand, Aortic root aneurysm, Natal tooth, Antever...	OMIM:145420
Ogden Syndrome	High, narrow palate, Microretrognathia, Underdeveloped nasal alae, Enlarged naris, Short columell...	ORPHA:276432
Axial Mesodermal Dysplasia Spectrum	Abnormal localization of kidney, Gastroesophageal reflux, Abnormality of the urinary system, Anor...	ORPHA:1834
Spastic Paraplegia 75, Autosomal Recessive	Ventriculomegaly, Cerebellar atrophy, Dysmetria, Loss of ambulation, Corpus callosum atrophy, Spa...	OMIM:616680
Coffin-Siris Syndrome 4	Wide nasal bridge, Depressed nasal bridge, Short 5th finger, Pulmonary artery atresia, Mitral atr...	OMIM:614609
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Low-set ears, Cerebellar vermis hypoplasia, Ventriculomegaly, Retrognathia, Episodic tachypnea, M...	ORPHA:163961
Fanconi Anemia, Complementation Group B	Ventriculomegaly, Aplastic anemia, Duodenal atresia, Abnormal lung lobation, Death in infancy, Ve...	OMIM:300514
Central Neurocytoma	Tinnitus, Abnormal lateral ventricle morphology, Hydrocephalus, Ataxia	ORPHA:73256
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Anteverted nares, Hypospadias, Short nose	ORPHA:1355
Mosaic Trisomy 1	Wide nasal bridge, Depressed nasal bridge, Microretrognathia, Camptodactyly of finger, Elbow flex...	ORPHA:1692
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Neurodevelopmental Disorder With Involuntary Movements	Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Microcephaly, Atrophy/Degeneration affect...	OMIM:617493
Familial Idiopathic Dilatation Of The Right Atrium	Pleural effusion, Cardiomegaly, Abnormal vena cava morphology, Hepatomegaly, Right atrial enlarge...	ORPHA:1677
Kleefstra Syndrome	Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Short nose, Gastroesophageal reflu...	ORPHA:261494
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Microcephaly, Micrognathia, Macrotia	OMIM:300934
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Leukemia, Ventriculomegaly, Hydrocephalus, Ventricular septal defect	OMIM:602501
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Hearing impairment, Limb ataxia, Gait ataxia, Dysmetria, Gait disturbance, At...	OMIM:617145
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Broad nasal tip, Retrognathia, Malar flattening, Enuresis, Short nose	OMIM:613670
Galloway-Mowat Syndrome 2, X-Linked	Minimal change glomerulonephritis, Cerebellar atrophy, Cerebral atrophy, Intrauterine growth reta...	OMIM:301006
Childhood-Onset Spasticity With Hyperglycinemia	Left ventricular hypertrophy	ORPHA:401866
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Microcephaly	OMIM:614254
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short distal phalanx of finger, Anteverted nares, Micrognathia, Atrial septal defect, Delayed eru...	OMIM:619356
Hydrocephalus-Obesity-Hypogonadism Syndrome	High, narrow palate, Azoospermia, Hydrocephalus, Mitral valve prolapse	ORPHA:2183
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Ataxia	OMIM:616187
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Wide nasal bridge, Bifid uvula, Choanal atresia, Gastroesophageal reflux, Depressed nasal bridge,...	OMIM:620186
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Difficulty walking, Gait ataxia	ORPHA:512260
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl...	OMIM:619313
Maxillonasal Dysplasia	Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Short distal phalanx of...	ORPHA:1248
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia	ORPHA:172
Pontocerebellar Hypoplasia, Type 15	Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus...	OMIM:619302
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Inability to walk, Delayed menarche, Difficulty walking, Diffuse cerebral atr...	ORPHA:330050
Neurooculorenal Syndrome	Ventriculomegaly, Anteriorly placed anus, Intestinal malrotation, Tetralogy of Fallot with pulmon...	OMIM:620305
Aortic Aneurysm, Familial Thoracic 6	Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti...	OMIM:611788
Martsolf Syndrome 2	Lateral ventricle dilatation, Microcephaly, Short stature, Brain atrophy, Macrotia	OMIM:619420
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Ventricular septal defect, Double outlet right ventri...	OMIM:619895
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Hepatic failure, Ventriculomegaly, Cholestasis, Splenomegaly, Ventricular septa...	OMIM:615630
Agammaglobulinemia 6, Autosomal Recessive	Recurrent otitis media, Conjunctivitis, Recurrent pneumonia, Chronic sinusitis	OMIM:612692
Mitochondrial Complex I Deficiency, Nuclear Type 37	Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Respiratory di...	OMIM:619272
Cerebellar Ataxia, Cayman Type	Broad-based gait, Cerebellar atrophy, Gait ataxia, Cerebellar hypoplasia, Ataxia, Truncal ataxia	OMIM:601238
Brachytelephalangic Chondrodysplasia Punctata	Depressed nasal ridge, Hypoplasia of the maxilla, Gastroesophageal reflux, Broad nasal tip, Hypop...	ORPHA:79345
Intellectual Developmental Disorder, X-Linked, Syndromic 34	High, narrow palate, Gastroesophageal reflux, Left ventricular noncompaction, Left ventricular no...	OMIM:300967
Mitochondrial Complex I Deficiency, Nuclear Type 5	Cerebellar atrophy, Increased CSF lactate, Apnea, Microcephaly, Progressive microcephaly, Ataxia,...	OMIM:618226
Periventricular Nodular Heterotopia 8	Cerebellar vermis atrophy	OMIM:618185
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation, Cerebellar vermis atrophy, Diffuse cerebral atrophy, Microcephaly, ...	ORPHA:77299
Pontocerebellar Hypoplasia, Type 2D	Cerebellar vermis atrophy, Progressive microcephaly, Cerebellar atrophy, Cerebral atrophy	OMIM:613811
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Abnormal aortic arch morphology, Overriding aorta, Arteriovenous malformation	ORPHA:1110
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion	Abnormal circulating calcium concentration	ORPHA:140286
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Intes...	ORPHA:3405
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Cerebral atrophy, Abnormal cerebellum morphology, Limb dysmetria, Gait distur...	ORPHA:98762
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Stroke, Megaloblastic anemia, Atrial septal defect, Thrombocytopenia	ORPHA:49827
Mogs-Cdg	Retrognathia, Hepatosplenomegaly, Pulmonary edema, Cardiomegaly, Left ventricular hypertrophy, At...	ORPHA:79330
Bresek Syndrome	Renal hypoplasia, Hypoplasia of the bladder, Vesicoureteral reflux, Renal dysplasia	ORPHA:85284
Scleromyxedema	Abnormal pulmonary artery morphology, Gastroesophageal reflux, Abnormal coronary artery morpholog...	ORPHA:167635
Trichorhinophalangeal Syndrome, Type Ii	Wide nasal bridge, Recurrent pneumonia, Gastroesophageal reflux, Recurrent upper respiratory trac...	OMIM:150230
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Increased CSF lactate, Cerebellar atrophy, Hearing impairment, Progressive cerebellar ataxia	ORPHA:139485
Joubert Syndrome With Ocular Defect	Encephalocele, Aganglionic megacolon, Hydrocephalus, Dextrocardia, Cleft palate	ORPHA:220493
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia	OMIM:612526
Spinocerebellar Ataxia Type 40	Broad-based gait, Gait ataxia, Dysmetria, Pontocerebellar atrophy, Unsteady gait, Dysdiadochokinesis	ORPHA:423275
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
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Hydr...	OMIM:300048
Cat-Eye Syndrome	Hydronephrosis, Abnormal localization of kidney, Anal atresia, Renal hypoplasia/aplasia	ORPHA:195
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Increased CSF lactate	ORPHA:238329
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Cerebellar atrophy, Increased CSF lactate, Dysmetria, Ataxia, CSF pleocytosis, Elevated CSF alpha...	OMIM:618384
Intellectual Developmental Disorder, Autosomal Dominant 48	Low-set ears, Cerebellar vermis hypoplasia, Recurrent pneumonia, Dysgenesis of the cerebellar ver...	OMIM:617751
Progressive Myoclonic Epilepsy With Dystonia	Diffuse cerebellar atrophy, Microcephaly, Recurrent upper respiratory tract infections, Diffuse c...	ORPHA:352596
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Muscular dystrophy	OMIM:613153
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Peripheral pulmonary artery stenosis, Abnormality of frontal sinus, Short th...	ORPHA:436003
Congenital Disorder Of Glycosylation, Type Iih	Ventriculomegaly, Cerebellar atrophy, Micrognathia, Interface hepatitis, Microcephaly, Ataxia	OMIM:611182
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic root aneurysm, Abnormal heart valve morphology, Bulbous nose, Mitral valve prolapse, Left ...	ORPHA:230851
Congenital Disorder Of Glycosylation, Type Iiz	Diffuse cerebellar atrophy	OMIM:620201
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephritis, Chronic tubulo...	OMIM:614376
Distal Duplication 6P	Hydronephrosis, Renal hypoplasia, Abnormality of the urinary system	ORPHA:1745
Familial Hyperaldosteronism Type Iii	Epistaxis, Left ventricular hypertrophy, Hypercalciuria, Intracranial hemorrhage	ORPHA:251274
Noonan Syndrome 10	Hypertrophic cardiomyopathy, Pleural effusion, Mitral stenosis, Mitral valve prolapse, Ventricula...	OMIM:616564
Chromosome 15Q14 Deletion Syndrome	Recurrent viral upper respiratory tract infections, Atrial septal defect, Cleft palate, Ventricul...	OMIM:616898
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Ataxia	OMIM:619099
Mckusick-Kaufman Syndrome	Hypoplastic left heart, Multicystic kidney dysplasia, Glandular hypospadias, Tetralogy of Fallot,...	ORPHA:2473
Spastic Ataxia 3, Autosomal Recessive	Cerebral cortical atrophy, Cerebellar atrophy, Hearing impairment, Cerebellar vermis atrophy, Gai...	OMIM:611390
Spinocerebellar Ataxia 18	Progressive gait ataxia, Cerebellar atrophy, Dysdiadochokinesis, Dysmetria	OMIM:607458
Autosomal Recessive Spastic Paraplegia Type 66	Cerebellar hypoplasia, Difficulty walking, Colpocephaly, Spastic gait	ORPHA:401815
Developmental And Epileptic Encephalopathy 44	Cerebellar atrophy, Cerebral atrophy, Secondary microcephaly, Short stature, Athetosis	OMIM:617132
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Elevated circulating aspartate aminotr...	OMIM:280000
Citrullinemia Type Ii	Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H...	ORPHA:247585
Carpenter Syndrome 2	High, narrow palate, Wide nasal bridge, Depressed nasal bridge, Carious teeth, Dental malocclusio...	OMIM:614976
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ventriculomegaly, Occipital encephalocele, Cerebellar malformation, Macrocephaly at birth, Hydroc...	ORPHA:324416
Pseudoaminopterin Syndrome	Asplenia, High palate, Hydrocephalus, Patent foramen ovale	ORPHA:221120
Charge Syndrome	Anal stenosis, Secundum atrial septal defect, Aplasia/Hypoplasia of the thymus, Duodenal atresia,...	OMIM:214800
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Gait ataxia, Dysmetria, Steppage gait, Ataxia	OMIM:618387
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Atrial septal defect, Hydrocephalus, Dandy-Walker malfo...	OMIM:611134
Renal Dysplasia	Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Ring Chromosome 7 Syndrome	Wide nasal bridge, Bifid uvula, Small hand, Short 5th finger, Mandibular prognathia, Narrow naris...	ORPHA:1449
Hamamy Syndrome	Complete atrioventricular canal defect, Atrial septal defect	OMIM:611174
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Cerebellar atrophy, Protruding ear, Gait disturbance, Ataxia, Mandibular prognathia	ORPHA:85317
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Fanconi Anemia, Complementation Group I	Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Patent foramen ovale, Ventricular sept...	OMIM:609053
Severe Intellectual Disability And Progressive Spastic Paraplegia	Cerebral cortical atrophy, Cerebellar atrophy, Difficulty walking, Microcephaly, Short stature, W...	ORPHA:280763
Short Stature, Developmental Delay, And Congenital Heart Defects	Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:617044
Macdermot-Winter Syndrome	Hydronephrosis	OMIM:247990
Isolated Atp Synthase Deficiency	Hypertrophic cardiomyopathy, Renal hypoplasia, Dilated cardiomyopathy, 3-Methylglutaconic aciduria	ORPHA:254913
Craniofacial Dyssynostosis With Short Stature	Ventriculomegaly, Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Pyloric ste...	OMIM:218350
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Spondyloepiphyseal Dysplasia, Nishimura Type	Hyperphosphatemia, Hypocalcemia	OMIM:618618
Mucopolysaccharidosis Type 1	Hearing impairment, Macrocephaly, Apnea, Sensorineural hearing impairment, Hydrocephalus, Sinusit...	ORPHA:579
Arterial Tortuosity Syndrome	Aortic valve stenosis, Bifid uvula, Ventricular hypertrophy, Aortic root aneurysm, Generalized ar...	OMIM:208050
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Infectious encephalitis, Sinusitis, Dyspnea, Bron...	ORPHA:1163
Mucopolysaccharidosis, Type X	Aortic valve stenosis, Wide nasal bridge, Thickened aortic valve cusp, Nephrolithiasis, Left vent...	OMIM:619698
Mitochondrial Myopathy And Sideroblastic Anemia	Generalized limb muscle atrophy, Micrognathia, Myopathy, High palate, Short nose	ORPHA:2598
Williams-Beuren Region Duplication Syndrome	Cerebellar vermis hypoplasia, Ventriculomegaly, Micrognathia, Gait disturbance, Hydrocephalus, Ma...	OMIM:609757
Spinocerebellar Ataxia, Autosomal Recessive 10	Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Truncal ataxia	OMIM:613728
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Abnormal auditory evoked potentials, Ventriculomegaly, Malar flattenin...	OMIM:109120
Thanatophoric Dysplasia	Ventriculomegaly, Hydrocephalus, Atrial septal defect, Patent ductus arteriosus, Pulmonary hypopl...	ORPHA:2655
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Short columella, Sho...	OMIM:155050
Neonatal Lupus Erythematosus	Hepatic failure, Dilated cardiomyopathy, Aplastic anemia, Elevated circulating hepatic transamina...	ORPHA:398124
Orthostatic Hypotension 1	Elevated circulating dihydroxyphenylacetic acid concentration, Increased blood urea nitrogen, Hyp...	OMIM:223360
Hereditary Methemoglobinemia	Temporal cortical atrophy, Global brain atrophy, Cerebellar atrophy, Microcephaly, Frontal cortic...	ORPHA:621
Alexander Disease Type I	Progressive macrocephaly, Cerebellar atrophy, Hydrocephalus, Ataxia	ORPHA:363717
Congenital Heart Defects And Skeletal Malformations Syndrome	Carious teeth, Aortic root aneurysm, Intestinal malrotation, Narrow nose, Congenital diaphragmati...	OMIM:617602
Spinocerebellar Ataxia 12	Cerebral cortical atrophy, Cerebellar atrophy, Dysmetria, Dysdiadochokinesis, Progressive cerebel...	OMIM:604326
Cerebrooculofacioskeletal Syndrome 1	Recurrent pneumonia, Carious teeth, Cerebellar atrophy, Delayed eruption of teeth, Ventriculomega...	OMIM:214150
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Gastroesophageal reflux, Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesi...	OMIM:191800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst	OMIM:617056
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Prominent antitragus, Cerebellar atrophy, Ataxia	OMIM:618879
Oculofaciocardiodental Syndrome	Bifid nasal tip, Peripheral pulmonary artery stenosis, Delayed eruption of teeth, Short thumb, In...	ORPHA:2712
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Cerebral cortical atrophy, Cerebellar atrophy, Hearing impairment, Intrauterine growth retardatio...	ORPHA:369939
Spinocerebellar Ataxia 44	Cerebellar atrophy, Gait ataxia, Dysmetria, Tinnitus, Ataxia, Dysdiadochokinesis	OMIM:617691
Klippel-Trénaunay Syndrome	Microcytic anemia, Abnormal tricuspid valve morphology, Abnormality of the pulmonary artery, Veno...	ORPHA:90308
Giant Cell Arteritis	Vasculitis, Hepatic failure, Aortic dissection, Double outlet right ventricle with subpulmonary v...	ORPHA:397
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Renal hypoplasia, Vesicoureteral reflux, Mitral st...	OMIM:617660
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Increased CSF lactate, Death in infancy, Ventricular septal defect	OMIM:616277
Holoprosencephaly 13, X-Linked	Hypoplastic left heart, Alobar holoprosencephaly, Semilobar holoprosencephaly, Duodenal atresia, ...	OMIM:301043
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Cerebellar vermis hypoplasia, Cerebellar atrophy, Parietal cortical atrophy, Difficulty walking, ...	ORPHA:98
Hallermann-Streiff Syndrome	Abdominal situs inversus	ORPHA:2108
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Cerebral cortical atrophy, Cerebellar atrophy, Hearing impairment, Loss of ambulation, Atrophy/De...	OMIM:271245
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Hydranencephaly, Cleft palate, Ventricular septal defect	OMIM:601355
Autosomal Recessive Spastic Paraplegia Type 46	Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Hearing impairment, Cerebral atr...	ORPHA:320391
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Low-set ears, Pneumonia, Micrognathia, Malar flattening, Sinusitis, Short stature, Bronchiectasis	OMIM:242860
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Hydranencephaly, Intrauterine growth retardation, Micrognathia, Akinesia, Agene...	OMIM:225790
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Ventriculomegaly, Cerebellar atrophy, Delayed eruption of teeth, Cerebral atrophy, Apnea, Macrotia	OMIM:619797
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Adams-Oliver Syndrome 2	Low-set ears, Lateral ventricle dilatation, Cerebral atrophy, Micrognathia, Protruding ear, Micro...	OMIM:614219
Foxp1 Syndrome	Recurrent upper respiratory tract infections, Broad nasal tip, Retrognathia, Abnormal heart morph...	ORPHA:391372
Microcephaly 20, Primary, Autosomal Recessive	Ureteral agenesis, Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys	OMIM:617914
X-Linked Intellectual Disability, Hedera Type	Left ventricular hypertrophy, Hypomimic face	ORPHA:93952
Idiopathic Pulmonary Arterial Hypertension	Abnormal jugular vein morphology, Right ventricular hypertrophy	ORPHA:275766
Neu-Laxova Syndrome 1	Ventriculomegaly, Hydranencephaly, Patent foramen ovale, Ventricular septal defect, Neonatal deat...	OMIM:256520
Pyruvate Dehydrogenase E1-Alpha Deficiency	Recurrent aspiration pneumonia, Ventriculomegaly, Lateral ventricle dilatation, Cerebral atrophy,...	ORPHA:79243
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Depressed nasal bridge, Rhizomelia, Microretrognathia, Aortic root aneurysm, Elbow flexion contra...	OMIM:245600
20Q13.33 Microdeletion Syndrome	Abnormal cardiac ventricle morphology, Hypoplastic aortic arch, Dilation of Virchow-Robin spaces,...	ORPHA:261311
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebral cortical atrophy, Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Neurodegener...	OMIM:615157
Chime Syndrome	Acute leukemia, Tetralogy of Fallot, Ventricular septal defect, Pulmonary valve atresia, Transpos...	ORPHA:3474
X-Linked Intellectual Disability, Nascimento Type	Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Mitral stenosis, Patent foramen ovale,...	ORPHA:163956
Joubert Syndrome 20	Renal cyst	OMIM:614970
Autosomal Recessive Amelia	Micrognathia, Amelia, Acromelia of the lower limbs, Aplasia/Hypoplasia of the lungs, Abnormal car...	ORPHA:1027
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts, Mitral valve prolapse	OMIM:173900
Congenital Aortic Valve Stenosis	Aortic valve stenosis, Aortic valve calcification, Endocardial fibroelastosis, Left ventricular h...	ORPHA:3093
Spastic Paraplegia 7, Autosomal Recessive	Cerebral cortical atrophy, Cerebellar atrophy, Hearing impairment, Gait ataxia, Dysmetria, Degene...	OMIM:607259
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Xk Aprosencephaly Syndrome	Anal atresia, Atrial septal defect, Ventricular septal defect	ORPHA:3469
Leukodystrophy, Hypomyelinating, 15	Severe short stature, Cerebellar atrophy, Cerebral atrophy, Sensorineural hearing impairment, Los...	OMIM:617951
Craniosynostosis, Herrmann-Opitz Type	Abnormality of the urethra, Micromelia, Micrognathia, Malar flattening, Aplasia/Hypoplasia of the...	ORPHA:2145
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hypercalcemia, Hyperphosphatemia, Calcinosis	OMIM:211900
Lambert Syndrome	Cholestasis, Jaundice, Intrahepatic biliary atresia, Ventricular septal defect	ORPHA:1296
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow con...	OMIM:617201
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Cerebellar atrophy, Cerebral atrophy, Loss of ambulation, Scissor gait, Progressive microcephaly	ORPHA:521406
Spinocerebellar Ataxia 49	Cerebellar atrophy, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait, Dysdiadochokinesis	OMIM:619806
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Gaucher Disease, Type Iiic	Aortic valve calcification, Pancytopenia, Calcification of the aorta, Mitral stenosis, Splenomega...	OMIM:231005
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni...	OMIM:300539
Developmental And Epileptic Encephalopathy 98	Secondary microcephaly, Cerebellar atrophy, Cerebral atrophy	OMIM:619605
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Renal hypoplasia, Vesicoureteral reflux	ORPHA:464288
Spinocerebellar Ataxia 46	Gait ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria	OMIM:617770
Immunodeficiency 102	Recurrent upper respiratory tract infections, Chronic sinusitis, Recurrent sinusitis, Chronic rhi...	OMIM:301082
Grange Syndrome	Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect	ORPHA:79094
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki...	OMIM:617641
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Microcephaly, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Ataxia,...	ORPHA:2585
Craniosynostosis 6	Cerebellar atrophy, Lateral ventricle dilatation, Agenesis of corpus callosum, Sensorineural hear...	OMIM:616602
Igg4-Related Aortitis	Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, In...	ORPHA:449400
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Pyloric stenosis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect	OMIM:614262
Beaulieu-Boycott-Innes Syndrome	Unilateral renal agenesis, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Hors...	OMIM:613680
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Cardiomyopathy, Familial Hypertrophic, 11	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial septal defect, Subaortic ventri...	OMIM:612098
Catel-Manzke Syndrome	Bifid uvula, Short toe, Narrow naris, Narrow nose, Micrognathia, Short humerus, Ventricular septa...	OMIM:616145
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Hearing impairment, Recurrent otitis media, Pyoderma, Infectious encephalitis, Prostat...	OMIM:307200
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Micrognathia, Short stature	OMIM:300580
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Tetralogy of Fallot, Complete atrioventricular canal defect	OMIM:617925
Pontocerebellar Hypoplasia, Type 1A	Cerebral cortical atrophy, Hypoplasia of the pons, Lateral ventricle dilatation, Limb ataxia, Cer...	OMIM:607596
Vacterl/Vater Association	Hypospadias, Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Abnormalit...	ORPHA:887
Mast Syndrome	Cerebellar atrophy, Cerebral atrophy, Gait disturbance, Athetosis, Dysdiadochokinesis	OMIM:248900
Emanuel Syndrome	Aortic valve stenosis, Ventriculomegaly, Intestinal malrotation, Recurrent sinusitis, Truncus art...	OMIM:609029
Peripartum Cardiomyopathy	Dilated cardiomyopathy, Stroke-like episode, Abnormal cardiac atrium morphology, Left atrial enla...	ORPHA:563
Spastic Paraplegia 30, Autosomal Dominant	Spastic gait, Cerebellar atrophy, Dysmetria, Ataxia	OMIM:610357
Rhiny	Anteverted nares, Short nose	OMIM:180360
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Low-set ears, Micrognathia, Hydrocephalus, Macrocephaly, Short stature	ORPHA:1516
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypophosphatemia, Hypercalcemia	OMIM:600740
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hypercalcemia, Hyperphosphatemia	OMIM:617994
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Timothy Syndrome	Pneumonia, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Card...	OMIM:601005
Apparent Mineralocorticoid Excess	Nephrocalcinosis, Renal insufficiency, Stroke, Left ventricular hypertrophy, Abnormal urine sodiu...	ORPHA:320
Bacterial Toxic-Shock Syndrome	Pneumonia, Hepatitis, Fasciitis, Respiratory distress, Osteomyelitis, Pharyngitis, Skin rash, Inf...	ORPHA:36234
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Aplasia of the thymus, Double outlet right ventricle, Atrial septal d...	OMIM:618223
Autosomal Recessive Progressive External Ophthalmoplegia	Shuffling gait, Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Optic neuritis, Ataxia,...	ORPHA:254886
Cardiac Valvular Dysplasia 2	Pulmonary artery dilatation, Bicuspid aortic valve, Subvalvular aortic stenosis, Dysplastic aorti...	OMIM:620067
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Difficulty walking, Cerebral cortical atrophy, Cerebellar atrophy, Ataxia	OMIM:619425
Pontocerebellar Hypoplasia, Type 1E	Cerebellar hypoplasia, Cerebellar atrophy, Hypoplasia of the pons	OMIM:619303
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Depressed nasal bridge, Recurrent upper respiratory tract infections, Retrognathia, An...	OMIM:614069
Spinocerebellar Ataxia 29	Diffuse cerebellar atrophy, Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar vermis atr...	OMIM:117360
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Cerebral atrophy, Dysmetria, Loss of ambulation, Ataxia	OMIM:617916
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia	OMIM:241500
Perrault Syndrome 1	Cerebellar atrophy, Gait ataxia, Sensorineural hearing impairment, Ataxia, Short stature	OMIM:233400
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Recurrent upper respiratory tract infections, Recurrent pneumonia, Persistence of hemoglobin F, V...	OMIM:619769
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c...	ORPHA:26793
Spinocerebellar Ataxia 14	Gait ataxia, Cerebellar atrophy, Dysmetria, Progressive cerebellar ataxia	OMIM:605361
Intellectual Developmental Disorder, Autosomal Dominant 70	Hypoplasia of the maxilla, Hearing impairment, Retrognathia, Hypoplasia of the pons, Postnatal ma...	OMIM:620157
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Aortic valve stenosis, Hypoplastic left heart, Ventriculomegaly, Pulmonary artery atresia, Mitral...	OMIM:618164
Developmental And Epileptic Encephalopathy 65	Microcephaly, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy	OMIM:618008
Mmep Syndrome	Ventricular septal defect	ORPHA:3434
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Perlman Syndrome	High, narrow palate, Wide nasal bridge, Retrognathia, Anteverted nares, Micrognathia, Hepatomegal...	ORPHA:2849
Recombinant 8 Syndrome	Depressed nasal bridge, Camptodactyly of finger, Tetralogy of Fallot, Anteverted nares, Micrognat...	ORPHA:96167
Urofacial Syndrome 2	Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro...	OMIM:615112
Adams-Oliver Syndrome	Short distal phalanx of finger, Gastrointestinal hemorrhage, Arteriovenous malformation, Tetralog...	ORPHA:974
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent ductu...	OMIM:618652
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus	OMIM:615599
Spinocerebellar Ataxia, Autosomal Recessive 8	Cerebellar atrophy, Hearing impairment, Limb ataxia, Gait ataxia, Dysmetria	OMIM:610743
Developmental And Epileptic Encephalopathy 37	Gait disturbance, Cerebellar atrophy, Choreoathetosis, Cerebral atrophy	OMIM:616981
Ataxia-Telangiectasia-Like Disorder	Cerebellar vermis hypoplasia, Cerebellar atrophy, Dilated fourth ventricle, Gait ataxia, Dysmetri...	ORPHA:251347
Cirrhotic Cardiomyopathy	Pulmonary edema, Left atrial enlargement, Left ventricular hypertrophy, Cardiomegaly, Hepatomegal...	ORPHA:57777
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Microcephaly, Intrauterine growth retardation	ORPHA:26792
Atelis Syndrome 1	Leukopenia, Ventricular septal defect, Atrial septal defect, Thrombocytopenia, Anemia, High palat...	OMIM:620184
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Bifid uvula, Hypertrophic cardiomyopathy, Protruding tongue, Death in childhood, Ventricular sept...	OMIM:612938
Asthma, Nasal Polyps, And Aspirin Intolerance	Nasal polyposis	OMIM:208550
Cardiomyopathy, Dilated, 1D	Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy	OMIM:601494
Ménétrier Disease	Hypoalbuminemia, Hypoproteinemia	ORPHA:2494
Isolated Polycystic Liver Disease	Multiple renal cysts	ORPHA:2924
Arboleda-Tham Syndrome	Recurrent aspiration pneumonia, Secundum atrial septal defect, Intestinal malrotation, Ventricula...	OMIM:616268
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Tooth abscess, Cutaneous abscess, Otitis ...	ORPHA:331235
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Biventricular hypertrophy, Patent foramen ovale, Ventricular septal defect, Nephrolithiasis, Left...	OMIM:615474
X-Linked Lissencephaly With Abnormal Genitalia	Ventriculomegaly, Exocrine pancreatic insufficiency, Death in infancy, Ventricular septal defect,...	ORPHA:452
Aase-Smith Syndrome I	Death in infancy, Ventricular septal defect, Hydrocephalus, Cleft palate, Dandy-Walker malformation	OMIM:147800
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Difficulty walking, Dysmetria, L...	OMIM:616479
Chromosome 6Q24-Q25 Deletion Syndrome	High, narrow palate, Lateral ventricle dilatation, Anteriorly placed anus, Mitral valve prolapse,...	OMIM:612863
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Cerebellar vermis atrophy, Increased CSF lactate, Dilated fourth ventricle, Ataxia, Choreoathetosis	OMIM:619054
Hamel Cerebro-Palato-Cardiac Syndrome	Wide nasal bridge, Bulbous nose, Micrognathia, Malar flattening, Atrial septal defect, Cleft palate	ORPHA:93946
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Cardiomyopathy	OMIM:102200
Pituitary Gigantism	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Mandibular prognathia	ORPHA:99725
Cleidocranial Dysplasia	Carious teeth, Hearing impairment, Delayed eruption of teeth, Hypoplasia of the zygomatic bone, A...	ORPHA:1452
X-Linked Mandibulofacial Dysostosis	Hypoplasia of the zygomatic bone, Prominent nasal bridge, Micrognathia, Abnormal mitral valve mor...	ORPHA:1131
Spinocerebellar Ataxia, Autosomal Recessive 18	Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Ataxia, Truncal ataxia, Dy...	OMIM:616204
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Atrial septal defect	ORPHA:52056
Charge Syndrome	Interrupted aortic arch, Tetralogy of Fallot, Aortic arch aneurysm, Abnormal aortic valve morphol...	ORPHA:138
Rheumatic Fever	Recurrent pharyngitis, Gait disturbance, Arthritis, Sinusitis, Myocarditis, Endocarditis, Pericar...	ORPHA:3099
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Cerebellar atrophy, Protruding ear, Ataxia, Unsteady gait, Mandibular prognathia	OMIM:300861
Combined Oxidative Phosphorylation Deficiency 33	Cardiomyopathy, Myopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Nephrotic syn...	OMIM:617713
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Falls, Cerebellar atrophy, Cerebral atrophy, Impaired tandem gait, Gait disturbance	OMIM:300423
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Recurrent pneumonia, Respiratory distress, Difficulty walking, Infantile sensorineural hearing im...	ORPHA:254875
Harel-Yoon Syndrome	Distal amyotrophy, Hypertrophic cardiomyopathy, Micrognathia, Mandibular prognathia, Short nose	OMIM:617183
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Increased CSF lactate, Difficulty walki...	ORPHA:137898
Senior-Boichis Syndrome	Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge...	ORPHA:84081
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Hydrocephalus	OMIM:300886
Pallister-Hall-Like Syndrome	Depressed nasal bridge, Microglossia, Micromelia, Micrognathia, Short ribs, Micropenis, Cleft pal...	OMIM:241800
Hypomandibular Faciocranial Dysostosis	Hypoplasia of the maxilla, Aglossia, Micrognathia, Malar flattening, Choanal stenosis, Atrial sep...	OMIM:241310
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Oligosacchariduria, Hypertrophic cardiomyopathy, Facial hypotonia, Respiratory tract infection, C...	ORPHA:308552
Felty Syndrome	Recurrent pneumonia, Episcleritis, Synovitis, Recurrent pharyngitis, Arthritis, Sinusitis, Rhinit...	ORPHA:47612
Tremor, Hereditary Essential, 6	Cerebellar atrophy	OMIM:618866
Stt3B-Cdg	Respiratory distress, Microcephaly, Intrauterine growth retardation, Cerebellar atrophy	ORPHA:370924
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome	Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Atrophy of the spinal cord, Atrophy/Degenerati...	ORPHA:445062
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis of corpus call...	ORPHA:300573
Gordon Holmes Syndrome	Cerebellar atrophy, Cerebral atrophy, Ataxia	OMIM:212840
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Secondary microcephaly, Neurodeg...	OMIM:617672
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Recurrent pneumonia, Ventriculomegaly, Abnormal heart morphology, Patent foramen ovale, Ventricul...	ORPHA:500159
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation, Ventricular septal defect	OMIM:616816
Polysyndactyly With Cardiac Malformation	Hepatic cysts, Renal cyst, Atrial septal defect, Ventricular septal defect	OMIM:263630
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Depressed nasal bridge, Micromelia, Anteverted nares, Short ribs, Cardiomegaly, Vascular dilatati...	OMIM:613320
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Renal hypoplasia	OMIM:616817
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Cerebellar hypoplasia, Ventriculomegaly, Hydrocephalus	OMIM:614830
Codas Syndrome	Depressed nasal bridge, Hydroureter, Delayed eruption of teeth, Abnormal dental enamel morphology...	ORPHA:1458
Spinocerebellar Ataxia, Autosomal Recessive 27	Cerebral cortical atrophy, Cerebellar atrophy, Gait imbalance, Gait ataxia, Spastic ataxia, Gait ...	OMIM:618369
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Broad-based gait, Cerebellar atrophy, Difficulty walking, Limb ataxia, Dysmetria, Progressive gai...	ORPHA:284324
Yellow Nail Syndrome	Dyspnea, Rhinitis, Bronchiectasis, Sinusitis	ORPHA:662
Cyclic Neutropenia	Periodontitis, Pharyngitis, Otitis media, Peritonitis, Enterocolitis, Perianal abscess, Tooth abs...	ORPHA:2686
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E...	ORPHA:84085
Fabry Disease	Lipiduria, Transient ischemic attack, Renal insufficiency, Proteinuria, Ventricular septal hypert...	OMIM:301500
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	High, narrow palate, Gastroesophageal reflux, Pseudobulbar paralysis, Narrow nasal bridge, Abnorm...	ORPHA:466791
Dworschak-Punetha Neurodevelopmental Syndrome	Unilateral renal hypoplasia, Vesicoureteral reflux	OMIM:619955
Prune Belly Syndrome	Xerostomia, Hydroureter, Hydronephrosis, Anal atresia, Patent ductus arteriosus, Congenital poste...	OMIM:100100
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Wide nasal bridge, Nephrocalcinosis, Retrognathia, Limb undergrowth, Atrial septal defect, Joint ...	OMIM:618005
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Endocardial fibroelastosis, Death in infancy	OMIM:600559
Brain Malformations With Or Without Urinary Tract Defects	Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux	OMIM:613735
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Flexion contracture, Short nose	OMIM:618379
Cutis Laxa, Autosomal Recessive, Type Ib	Depressed nasal bridge, Pulmonary artery aneurysm, Pulmonary artery dilatation, Aortic root aneur...	OMIM:614437
Laubry-Pezzi Syndrome	Abnormal coronary artery morphology, Patent foramen ovale, Aortic valve prolapse, Ventricular sep...	ORPHA:99094
6P22 Microdeletion Syndrome	Hydronephrosis, Patent ductus arteriosus	ORPHA:251046
Stickler Syndrome Type 1	Short nose, Hypoplasia of the maxilla, Cleft palate, Mitral valve prolapse	ORPHA:90653
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Pulmonic stenosis, Renal hypoplasia, Patent foramen ovale	OMIM:618914
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat...	OMIM:603553
Meckel Syndrome 12	Renal hypoplasia, Ureteral hypoplasia, Bilateral renal agenesis	OMIM:616258
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Bicuspid aortic valve, Recurrent lower respiratory tract infections, Atrial septal defect	OMIM:617744
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Microcephaly, Intrauterine growth retardation, Cerebellar atrophy	OMIM:615597
Hemiparkinsonism-Hemiatrophy Syndrome	Difficulty walking, Cerebral cortical hemiatrophy, Brain atrophy, Lateral ventricle dilatation	ORPHA:306669
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	OMIM:618440
Spinocerebellar Ataxia 19	Cerebellar atrophy, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebellar ataxia	OMIM:607346
Spinocerebellar Ataxia, Autosomal Recessive 20	Cerebral cortical atrophy, Cerebellar atrophy, Delayed eruption of teeth, Hearing impairment, Ina...	OMIM:616354
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop...	OMIM:137920
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Low-set ears, Cerebral cortical atrophy, Global brain atrophy, Bilateral conductive hearing impai...	OMIM:617802
Meier-Gorlin Syndrome 7	Complete atrioventricular canal defect, Atrial septal defect, Ventricular septal defect	OMIM:617063
Biemond Syndrome Ii	Short stature, Hydrocephalus	OMIM:210350
Noonan Syndrome 11	Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis	OMIM:618499
Peters Plus Syndrome	Multicystic kidney dysplasia, Micrognathia, Anal atresia, Short foot, Hypospadias, Patent ductus ...	ORPHA:709
Joubert Syndrome 18	Horseshoe kidney, Renal cyst, Ventricular septal defect	OMIM:614815
Cog5-Cdg	Low-set ears, Cerebellar atrophy, Lateral ventricle dilatation, Retrognathia, Intrauterine growth...	ORPHA:263487
Arterial Tortuosity Syndrome	Gastroesophageal reflux, Dilated cardiomyopathy, Aortic root aneurysm, Aortic dissection, Hypertr...	ORPHA:3342
Distal Deletion 15Q	Hypoplastic left heart, Abnormal aortic arch morphology, Double outlet right ventricle with doubl...	ORPHA:1596
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Dysmetria, Sensorineural hearing...	OMIM:618170
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Peripheral arterial stenosis, Varicose veins, Patent ductus arteriosus, Ventricular septal defect	OMIM:126320
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia	OMIM:614229
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Left ventricular hypertrophy, Atrial septal defect, Retrognathia, Hypoplastic nasal bridge	OMIM:620510
Faciocardiomelic Syndrome	Common atrium	OMIM:612731
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Severe short stature, Lymphocytic interstitial pneumonia	OMIM:245590
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Fanconi Anemia, Complementation Group W	Renal hypoplasia	OMIM:617784
Malaria	Respiratory distress, Gait imbalance	ORPHA:673
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Extra-axial cerebrospinal fluid accumula...	OMIM:618291
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal hypoplasia, Renal insufficiency, Hypoplasia of penis, Renal dysplasia	ORPHA:85321
Bardet-Biedl Syndrome 2	Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect	OMIM:615981
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Inability to walk, Gait ataxia, Dysmetria, Cerebellar hypoplasia	OMIM:617810
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Wide nasal bridge, Depressed nasal bridge, Arthrogryposis-like hand anomaly, Abnormal heart morph...	ORPHA:369891
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Leopard Syndrome 1	Hypertrophic cardiomyopathy, Complete atrioventricular canal defect, Mitral valve prolapse, Subva...	OMIM:151100
Aortic Aneurysm, Familial Thoracic 9	Thoracic aortic aneurysm, Ascending aortic dissection, Aortic tortuosity, Mitral valve prolapse	OMIM:616166
Glycogen Storage Disease Due To Acid Maltase Deficiency	Vasculitis, Oligosacchariduria, Atelectasis, Lower limb muscle weakness, Hypertrophic cardiomyopa...	ORPHA:365
Spinal Cord Injury	Hypercalcemia	ORPHA:90058
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy	Cerebellar atrophy, Ataxia	OMIM:617207
Triploidy	Intestinal malrotation, Abnormality of the gallbladder, Hydrocephalus, Abnormal cardiac septum mo...	ORPHA:3376
Greig Cephalopolysyndactyly Syndrome	Ventriculomegaly, Abnormal heart morphology, Atrial septal defect, Hydrocephalus, Anal atresia	OMIM:175700
Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Dysmetria, Increased neu...	ORPHA:79263
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Wide nasal bridge, Depressed nasal bridge, Retrognathia, Bulbous nose, Micrognathia, Ventricular ...	OMIM:617061
Chromosome 6Pter-P24 Deletion Syndrome	Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Anal atresia, Atrial septal...	OMIM:612582
Peroxisome Biogenesis Disorder 11A (Zellweger)	Renal cyst, Multiple renal cysts	OMIM:614883
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a...	OMIM:254210
Spinocerebellar Ataxia Type 29	Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Ataxia, Dysdiadochokinesis	ORPHA:208513
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Ventricular septal defect, Atrial septal defect, High palate, Hypoplastic right heart, Patent duc...	OMIM:618142
Hyperparathyroidism, Neonatal Severe	Hypophosphatemia, Hypercalcemia, Calcinosis	OMIM:239200
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Protruding ear, Microcephaly, M...	OMIM:617481
Eosinophilic Granulomatosis With Polyangiitis	Central nervous system degeneration, Skin rash, Increased inflammatory response, Myositis, Myocar...	ORPHA:183
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Mhc Class I Deficiency 1	Bronchiectasis, Chronic otitis media, Chronic sinusitis	OMIM:604571
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Urofacial Syndrome 1	Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v...	OMIM:236730
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Bicuspid aortic valve, Hydrocephalus	ORPHA:397951
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Mi...	OMIM:600460
Say Syndrome	Cystic renal dysplasia, Proximal renal tubular acidosis	OMIM:181180
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Ventricular septal defect, Ectopic anus, Spina bifida, Anencephaly, Cleft...	ORPHA:2476
Vici Syndrome	Depressed nasal bridge, Dilated cardiomyopathy, Recurrent respiratory infections, Cardiomyopathy,...	OMIM:242840
Prune1-Related Neurological Syndrome	Low-set ears, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Micrognathia, Microcephaly	ORPHA:544469
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal cyst, Renal insufficiency	OMIM:611773
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Broad-based gait, Cerebellar atrophy, Dysmetria, Sensorineural hearing impairment, Ataxia	OMIM:618098
Hb Bart'S Hydrops Fetalis	Abnormal hemoglobin, Splenomegaly, Anemia, Hydrocephalus, Hepatomegaly, Pericarditis	ORPHA:163596
Coenzyme Q10 Deficiency, Primary, 9	Impaired tandem gait, Cerebellar atrophy, Dysmetria, Ataxia	OMIM:619028
Martinez-Frias Syndrome	Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage...	OMIM:601346
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Hepatic cysts,...	OMIM:263200
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Hepatic cysts	OMIM:600666
Bone Dysplasia, Lethal Holmgren Type	Hypertrophic cardiomyopathy, Anemia, Atrial septal defect, Hepatomegaly, Recurrent respiratory in...	ORPHA:1842
Congenital Sialidosis Type 2	Cherry red spot of the macula, Abnormal heart morphology, Hepatosplenomegaly, Respiratory tract i...	ORPHA:93400
Acrocephalopolydactyly	Depressed nasal ridge, Hepatosplenomegaly, Limb undergrowth, Short nose	ORPHA:221054
Meckel Syndrome, Type 8	Pericardial effusion, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Restrictive Dermopathy	Microcolon, Submucous cleft hard palate, Transposition of the great arteries, Atrial septal defec...	ORPHA:1662
Tularemia	Pneumonia, Cutaneous abscess, Pharyngitis, Respiratory distress, Abnormal nasopharyngeal adenoid ...	ORPHA:3392
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Wide nasal bridge, Mandibular prognathia, Gastroesophageal reflux, Dilation of Virchow-Robin spac...	OMIM:300998
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Tetralogy of Fallot, Anal atresia, Hypospadias, Hypoplasia of penis	ORPHA:1381
Donnai-Barrow Syndrome	Depressed nasal bridge, Intestinal malrotation, Congenital diaphragmatic hernia, Ventricular sept...	ORPHA:2143
Tetrasomy 9P	Bifid uvula, Pulmonary hypoplasia, Juxtaductal coarctation of the aorta, Absent gallbladder, Medi...	ORPHA:3310
Developmental And Epileptic Encephalopathy 30	Respiratory distress	OMIM:616341
Nephronophthisis 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico...	OMIM:604387
3-Methylglutaconic Aciduria, Type Viib	Recurrent pneumonia, Rhizomelia, Cerebellar atrophy, Cerebral atrophy, Respiratory distress, Incr...	OMIM:616271
8Q24.3 Microdeletion Syndrome	Abnormal heart morphology, Atrioventricular canal defect, Complete atrioventricular canal defect,...	ORPHA:508488
Odontochondrodysplasia	Depressed nasal bridge, Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia, Micro...	ORPHA:166272
Birk-Landau-Perez Syndrome	Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Renal insufficiency, Tu...	OMIM:617595
Peroxisome Biogenesis Disorder 8B	Cerebellar atrophy, Tip-toe gait, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Loss of ambu...	OMIM:614877
Distal Deletion 12Q	High, narrow palate, Microglossia, Congenital hypertrophy of left ventricle, Elbow flexion contra...	ORPHA:96149
Lessel-Kreienkamp Syndrome	Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus, Pulm...	OMIM:619149
Congenital Disorder Of Glycosylation, Type It	Bifid uvula, Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulating hepatic trans...	OMIM:614921
Immunodeficiency By Defective Expression Of Mhc Class Ii	Chronic mucocutaneous candidiasis, Gait ataxia, Skin rash, Sclerosing cholangitis, Acute otitis m...	ORPHA:572
Thymic Neuroendocrine Tumor	Hypercalcemia	ORPHA:97289
Achondrogenesis	Micromelia, Anteverted nares, Micrognathia, Aplasia/Hypoplasia of the lungs, Short nose	ORPHA:932
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Renal hypoplasia, Polycystic kidney dysplasia, Renal cyst	OMIM:614091
X-Linked Progressive Cerebellar Ataxia	Cerebellar vermis atrophy, Limb ataxia, Dysmetria, Progressive gait ataxia, Unsteady gait, Dysdia...	ORPHA:1175
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect	OMIM:614435
Pgm3-Cdg	Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Bronchiectasis, Conductive hearing imp...	ORPHA:443811
Achondrogenesis Type 1A	Micromelia, Anteverted nares, Micrognathia, Aplasia/Hypoplasia of the lungs, Short palm, Short fo...	ORPHA:93299
Hypomandibular Faciocranial Dysostosis	Bifid uvula, Aplasia/Hypoplasia of the tongue, Anteverted nares, Maxillozygomatic hypoplasia, Cho...	ORPHA:1790
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d...	ORPHA:183675
Muscular Dystrophy, Congenital, With Or Without Seizures	Ventriculomegaly, Progressive hearing impairment, Respiratory distress, Loss of ambulation, Ataxia	OMIM:620166
Congenital Myopathy 19	Hydronephrosis, High palate, Dysphagia, Renal atrophy	OMIM:618578
Cerebellar Atrophy With Seizures And Variable Developmental Delay	Cerebellar vermis atrophy, Inability to walk, Gait ataxia, Dysmetria, Ataxia	OMIM:618501
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Wide nasal bridge, Broad columella, Recurrent respiratory infections, Hypertrophic cardiomyopathy...	OMIM:619383
Papillary Tumor Of The Pineal Region	Difficulty walking, Increased CSF protein concentration, Hydrocephalus, Episodic ataxia	ORPHA:251915
Spinocerebellar Ataxia 17	Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Diffuse cerebral atrop...	OMIM:607136
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Aplasia/Hypoplasia invo...	ORPHA:1529
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Low-set ears, Ventriculomegaly, Cerebral atrophy, Cerebellar vermis atrophy, Microcephaly, Progre...	OMIM:615760
Pettigrew Syndrome	Cerebellar vermis hypoplasia, Ventriculomegaly, High-frequency hearing impairment, Gait ataxia, S...	OMIM:304340
Scedosporiosis	Pneumonia, Osteomyelitis, Sinusitis, Arthralgia/arthritis, Septic arthritis, Endocarditis, Perica...	ORPHA:449280
Aminoacylase 1 Deficiency	Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Sensorineural hearing impairment	OMIM:609924
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Respiratory distress, Increased CSF lacta...	OMIM:604377
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital pulmonary airway malformation, Bilateral lung agenesis, Congenital diaphragmatic herni...	OMIM:611812
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Intrauterine growth retardation, Micrognathia, Microcephaly, Macrotia	ORPHA:261304
Joubert Syndrome With Renal Defect	Cerebellar vermis hypoplasia, Abnormal pattern of respiration, Low-set, posteriorly rotated ears,...	ORPHA:220497
4H Leukodystrophy	Cerebellar atrophy, Delayed eruption of teeth, Dysmetria, Progressive gait ataxia, Delayed pubert...	ORPHA:289494
Trisomy 13	High, narrow palate, Abnormal lung lobation, Abnormality of the ureter, Displacement of the ureth...	ORPHA:3378
Transketolase Deficiency	Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,...	ORPHA:488618
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia	OMIM:602080
Duodenal Atresia	Annular pancreas, Duodenal atresia, Abnormality of the pancreas	ORPHA:1203
Pseudo-Torch Syndrome 1	Increased CSF protein concentration, Ventriculomegaly, Elevated circulating hepatic transaminase ...	OMIM:251290
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a...	OMIM:605809
Perching Syndrome	Respiratory distress	OMIM:617055
Spastic Paraplegia 50, Autosomal Recessive	Ventriculomegaly, Cerebellar atrophy, Microcephaly, Ataxia, Mandibular prognathia	OMIM:612936
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Secondary microcephaly, Micrognathia, Cerebellar hypoplasia	OMIM:615042
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Asplenia, Cholelithiasis, Chronic active hepatitis	OMIM:240300
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Hypertrophic cardiomyopathy, Anteverted nares, Short nose, Pulmonic stenosis	ORPHA:2701
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection	OMIM:617349
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Neurodegeneration, Difficulty walking, Dysmetria, Atrophy/Degeneration affect...	OMIM:612319
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Achondrogenesis Type 1B	Micromelia, Anteverted nares, Micrognathia, Aplasia/Hypoplasia of the lungs, Short foot, Short nose	ORPHA:93298
Tenorio Syndrome	Cerebral cortical atrophy, Recurrent pneumonia, Ventriculomegaly, Recurrent aphthous stomatitis, ...	OMIM:616260
Edinburgh Malformation Syndrome	Jaundice, Hydrocephalus, Death in infancy	OMIM:129850
Nephronophthisis 9	Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts	OMIM:613824
Cardiomyopathy, Dilated, 2E	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve	OMIM:619492
Distal Duplication 18Q	Choanal atresia, Carious teeth, Camptodactyly of finger, Anteverted nares, Prominent nasal bridge...	ORPHA:1716
Duplication Of Urethra	Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli...	ORPHA:237
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Spinocerebellar Ataxia, Autosomal Recessive 26	Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Unsteady gait, Dysdiadochokinesis	OMIM:617633
Mosaic Variegated Aneuploidy Syndrome 2	Depressed nasal bridge, Rhizomelia, Abnormal lung lobation, Bulbous nose, Micrognathia, Ventricul...	OMIM:614114
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia	ORPHA:405
X-Linked Intellectual Disability, Schimke Type	Hydronephrosis, High palate, Vesicoureteral reflux	ORPHA:85285
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Bifid uvula, Peripheral pulmonary artery stenosis, Aortic root aneurysm, Hypertrophic cardiomyopa...	OMIM:617506
Metaphyseal Chondrodysplasia, Jansen Type	Hypophosphatemia, Hypercalcemia	OMIM:156400
Acquired Aneurysmal Subarachnoid Hemorrhage	Left ventricular hypertrophy, Ischemic stroke, Abnormal cerebral artery morphology, Cerebral hemo...	ORPHA:90065
22Q11.2 Deletion Syndrome	Ventricular septal defect, Atrial septal defect, Anal atresia, Patent ductus arteriosus, Cholelit...	ORPHA:567
Desmoid Tumor	Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Hydronephrosis, Abnorm...	ORPHA:873
Atrial Septal Defect, Ostium Primum Type	Pulmonary artery dilatation, Left atrial enlargement, Left ventricular hypertrophy, Right atrial ...	ORPHA:99106
Developmental And Epileptic Encephalopathy 47	Cerebellar atrophy, Secondary microcephaly, Inability to walk, Limb ataxia, Gait disturbance, Ataxia	OMIM:617166
Cornelia De Lange Syndrome 6	Macrodontia of permanent maxillary central incisor, Gastroesophageal reflux, Short 1st metacarpal...	OMIM:620568
Behr Syndrome	Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetria, Gait disturbance, Ataxia, Truncal ataxi...	OMIM:210000
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Wide nasal bridge, Gastroesophageal reflux, Bulbous nose, Anteverted nares, Micrognathia, Camptod...	OMIM:613604
Albers-Schönberg Osteopetrosis	Mandibular osteomyelitis, Carious teeth, Hearing impairment, Osteomyelitis, Macrocephaly, Hydroce...	ORPHA:53
Alagille Syndrome	Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Abnormality of the ureter, ...	ORPHA:52
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cyst, Renal cell carcinoma	OMIM:135150
Adenylosuccinate Lyase Deficiency	Anteverted nares, Short nose	ORPHA:46
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Ventriculomegaly, Cerebellar atrophy, Tip-toe gait, Difficulty walking, Microcephaly, Cerebellar ...	OMIM:606612
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Cirrhosis, Iron deficiency anemia, Chronic...	OMIM:269200
Trisomy X	Multicystic kidney dysplasia, Ventricular septal defect, Atrial septal defect, Renal hypoplasia/a...	ORPHA:3375
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia	ORPHA:93324
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Ankle flexion contracture, Mandibular prognathia, Gastroesophageal reflux, Knee flexion contractu...	ORPHA:435938
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Wide nasal bridge, Horseshoe kidney, Mitral atresia, Bulbous nose, Vesicoureteral reflux, Renal i...	ORPHA:140952
Sick Sinus Syndrome 2	Left ventricular noncompaction, Left ventricular hypertrophy, Mitral valve prolapse	OMIM:163800
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Depressed nasal bridge, Recurrent pneumonia, Aspiration pneumonia, Abnormal heart morphology, Ant...	ORPHA:314655
Emanuel Syndrome	Aortic valve stenosis, Unilateral renal agenesis, Renal hypoplasia, Ventricular septal defect, Tr...	ORPHA:96170
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida, Macrocephaly	ORPHA:1931
Microphthalmia, Syndromic 2	Aortic valve stenosis, Bifid uvula, Mitral valve prolapse, Ventricular septal defect, Submucous c...	OMIM:300166
X-Linked Centronuclear Myopathy	Respiratory distress, Pneumonia, Inability to walk	ORPHA:596
Lethal Congenital Contracture Syndrome 7	Micrognathia, Cerebellar atrophy, Cerebral atrophy	OMIM:616286
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Ventriculomegaly, Cerebellar atrophy, Aspiration pneumonia, Microcephaly, Pancreatitis, Nonprogre...	ORPHA:431361
Dengue Fever	Hypoproteinemia	ORPHA:99828
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Cerebral atrophy, Respiratory distress, Microcephaly, Gait disturbance, Short stature, Growth delay	OMIM:250940
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Limb ataxia, Progressive gait ataxia, Truncal ataxia, Progressive cerebellar ...	ORPHA:101112
Tetraploidy	Hydronephrosis, Aplasia/Hypoplasia of the lungs, Cleft palate, Renal hypoplasia/aplasia	ORPHA:3305
Spastic Paraplegia 46, Autosomal Recessive	Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Limb dysmetria, Upper limb dysmetria, S...	OMIM:614409
Mandibulofacial Dysostosis, Guion-Almeida Type	Choanal atresia, Anteverted nares, Micrognathia, Malar flattening, Ventricular septal defect, Eso...	OMIM:610536
Cranioectodermal Dysplasia 2	Wide nasal bridge, Depressed nasal bridge, Recurrent pneumonia, Mesomelia, Rhizomelia, Retrognath...	OMIM:613610
Baraitser-Winter Syndrome 1	Aortic valve stenosis, Wide nasal bridge, Retrognathia, Anteverted nares, Bicuspid aortic valve, ...	OMIM:243310
Joubert Syndrome 3	Low-set ears, Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Lateral ventricle d...	OMIM:608629
Lissencephaly 6 With Microcephaly	Ventriculomegaly, Cerebellar atrophy, Microcephaly, Partial agenesis of the corpus callosum, Macr...	OMIM:616212
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly, Vascular dilatation, Ventricular septal defect	OMIM:219730
Pierpont Syndrome	Broad nasal tip, Short toe, Short finger, Malar flattening, Short palm, Micropenis, Short foot, S...	OMIM:602342
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Chiari malformation, Conductive hearing impairment, Malar flattening, ...	ORPHA:93262
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Increased CSF lactate, Gait ataxia	OMIM:612075
Penile Agenesis	Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, B...	ORPHA:49
Neurofibromatosis-Noonan Syndrome	Secundum atrial septal defect, Pulmonic stenosis	OMIM:601321
Leukodystrophy, Hypomyelinating, 18	Secondary microcephaly, Dysmetria, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem	OMIM:618404
Kawasaki Disease	Vasculitis, Strawberry tongue, Hepatitis, Double outlet right ventricle with subpulmonary ventric...	ORPHA:2331
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect, Hydrocephalus, Cleft palate	OMIM:243440
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Joint contracture of the hand, Gastroesophageal reflux, Medullary nephroc...	ORPHA:363528
Formiminoglutamic Aciduria	Anemia, Megaloblastic anemia, Atrial septal defect	ORPHA:51208
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Cerebellar atrophy, Hypoplasia of the pons, Hearing impairment, Parietal cortical atrophy, Diffic...	ORPHA:412057
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Atrial Septal Defect 6	Atrial septal defect	OMIM:613087
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ectopic anus, Cleft palate, Ventricular septal defect	ORPHA:94066
Combined Oxidative Phosphorylation Deficiency 14	Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Hearing impairment, Cerebral atr...	OMIM:614946
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Gastroesophageal reflux, Skeletal muscle atrophy, Micrognathia, Joint contracture, Slender nose, ...	OMIM:615419
Choanal Atresia	Respiratory distress, Subglottic stenosis, Chronic sinusitis, Laryngomalacia	ORPHA:137914
Distal Limb Deficiencies-Micrognathia Syndrome	Proteinuria, Renal hypoplasia, Renal insufficiency	ORPHA:1307
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Global brain atrophy, Cerebellar atrophy, Cerebral atrophy, Increased CSF lactate, Loss of ambula...	OMIM:615838
Hypouricemia, Renal, 2	Hypouricemia	OMIM:612076
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Depressed nasal bridge, Peripheral pulmonary artery stenosis, Broad nasal tip, Hydroureter, Valvu...	OMIM:300707
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Ventriculomegaly, Hearing impairment, Intrauterine growth retardation, Micrognathia, Microcephaly...	OMIM:619833
Fontaine Progeroid Syndrome	Micrognathia, Protruding tongue, Bicuspid aortic valve, Atrial septal defect, Patent ductus arter...	OMIM:612289
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hypoplastic left heart, Ventriculomegaly, Mitral atresia, Muscular ventricular septal defect, Hep...	OMIM:619503
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cerebellar atrophy, Cerebral atrophy, Inability to walk, Gait ataxia, Progressive microcephaly	OMIM:618917
Leukoencephalopathy With Vanishing White Matter 5	Loss of ambulation, Dilated third ventricle, Lateral ventricle dilatation, Decreased CSF asialotr...	OMIM:620315
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Tip-toe gait, Difficulty walking, Dysmetria, Axonal degeneration, Sensorineur...	OMIM:302800
Roifman Syndrome	Recurrent pneumonia, Splenomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Eosin...	OMIM:616651
16P12.1P12.3 Triplication Syndrome	High, narrow palate, Short 5th finger, Retrognathia, Abnormal heart morphology, Bulbous nose, Abn...	ORPHA:485405
Diabetes Insipidus, Neurohypophyseal	Short nose, Wide nose	OMIM:125700
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Microcolon, Hydroureter, Abnormal heart morphology, Hydronephrosis, Fetal megacystis	OMIM:619362
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Hypoproteinemia	OMIM:226300
Methimazole Embryofetopathy	Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta, Tracheoesophageal fi...	ORPHA:1923
Aortic Valve Disease 2	Aortic valve stenosis, Calcification of the aorta, Patent foramen ovale, Bicuspid aortic valve, C...	OMIM:614823
Developmental And Epileptic Encephalopathy 5	Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Microcephaly, Progressive microc...	OMIM:613477
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Steppage gait, Cerebellar atrophy, Cerebral atrophy, Ataxia	OMIM:607250
Congenital Disorder Of Glycosylation, Type Ij	Hypoproteinemia	OMIM:608093
Succinic Semialdehyde Dehydrogenase Deficiency	Cerebellar atrophy, Elevated CSF gamma-aminobutyric acid concentration, Elevated CSF 4-hydroxybut...	OMIM:271980
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C...	ORPHA:2041
Vater/Vacterl Association	Occipital encephalocele, Tetralogy of Fallot, Ventricular septal defect, Tracheoesophageal fistul...	OMIM:192350
Axial Osteomalacia	Renal cyst	OMIM:109130
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Low-set ears, Ventriculomegaly, Retrognathia, Cerebral atrophy, Micrognathia, Agenesis of corpus ...	OMIM:620156
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bifid uvula, Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, Perim...	OMIM:612474
Orofaciodigital Syndrome Xv	Hydronephrosis, Lobulated tongue	OMIM:617127
Matthew-Wood Syndrome	Horseshoe kidney, Renal hypoplasia, Vesicoureteral reflux	ORPHA:2470
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Depressed nasal bridge, Anal stenosis, Gastroesophageal reflux, Short distal phalanx of finger, A...	OMIM:614080
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Aortic aneurysm, Patent ductus arteriosus, Frontal encephalocele	ORPHA:261102
Mandibulofacial Dysostosis-Microcephaly Syndrome	Hypoplasia of the maxilla, Micrognathia, Malar flattening, Atrial septal defect, Short nose, Clef...	ORPHA:79113
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral valve prol...	OMIM:613795
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Dysmetria, Sensorineural hearing impairment, Ataxia, Unsteady gait	OMIM:614867
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Atrial septal defect	OMIM:113301
Immunodeficiency 15A	Acne inversa, Chronic mucocutaneous candidiasis, Cutaneous abscess, Recurrent otitis media, Recur...	OMIM:618204
Mucopolysaccharidosis Type 6	Recurrent upper respiratory tract infections, Hearing impairment, Disproportionate short-trunk sh...	ORPHA:583
Spinocerebellar Ataxia 42	Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Spastic ataxia, Ataxia, Spas...	OMIM:616795
Coenzyme Q10 Deficiency, Primary, 4	Increased CSF lactate, Cerebellar atrophy, Ataxia	OMIM:612016
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:36913
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Multiple muscular ventricular septal defects, Death in infancy, Aortic aneurysm, Atrial septal de...	OMIM:620070
Combined Oxidative Phosphorylation Deficiency 9	Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Death...	OMIM:614582
Plasminogen Deficiency, Type I	Nephritis, Recurrent upper respiratory tract infections, Ventriculomegaly, Periodontitis, Cerebel...	OMIM:217090
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Tru...	ORPHA:98764
Coach Syndrome 2	Apneic episodes in infancy, Cerebellar vermis hypoplasia, Hydrocephalus, Agenesis of corpus callosum	OMIM:619111
Filippi Syndrome	Cerebellar atrophy, Serrated incisors, Intrauterine growth retardation, Postnatal growth retardat...	OMIM:272440
Capillary Malformation-Arteriovenous Malformation	Arteriovenous malformation, Chylothorax, Abnormal heart morphology, Abnormality of the lymphatic ...	ORPHA:137667
Short-Rib Thoracic Dysplasia 12	Periportal fibrosis, Lobulated tongue, Atelectasis, Hamartoma of tongue, Intestinal malrotation, ...	OMIM:269860
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Recurrent respiratory infections, Microretrognathia, Short nose	ORPHA:1389
Spastic Paraplegia 78, Autosomal Recessive	Cerebral cortical atrophy, Falls, Cerebellar atrophy, Gait ataxia, Ataxia	OMIM:617225
Holocarboxylase Synthetase Deficiency	Perioral eczema, Eczematoid dermatitis, Respiratory distress, Keratoconjunctivitis, Tachypnea, At...	ORPHA:79242
Rabin-Pappas Syndrome	Conductive hearing impairment, Retrognathia, Hypoplasia of the pons, Postnatal macrocephaly, Micr...	OMIM:620155
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Truncal ataxia, Dysdiadochokinesis, Progr...	ORPHA:352403
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver function, Sidero...	OMIM:617021
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Severe short stature, Rhizomelia, Disproportionate short stature, Hearing impairment, Respiratory...	OMIM:616482
Huntington Disease	Gait ataxia, Cerebellar atrophy, Neuronal loss in central nervous system	OMIM:143100
Progressive Myoclonic Epilepsy Type 3	Cerebellar atrophy, Cerebral atrophy, Progressive truncal ataxia, Microcephaly, Progressive cereb...	ORPHA:263516
Encephalocraniocutaneous Lipomatosis	Peripheral pulmonary artery stenosis, Ventricular septal defect, Subvalvular aortic stenosis, Hyd...	OMIM:613001
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Hypertrophic cardiomyopathy, Micrognathia, 3-Methylglutaconic aciduria, Mandibular prognathia, Lo...	ORPHA:496790
12Q14 Microdeletion Syndrome	Horseshoe kidney, Renal hypoplasia, Ectopic kidney	ORPHA:94063
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Wide nasal bridge, Hypoplasia of the maxilla, Skeletal muscle atrophy, Limb muscle weakness, Resp...	OMIM:218000
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Renal dysplasia,...	OMIM:608836
Diaphanospondylodysostosis	Multiple renal cysts	ORPHA:66637
Immunodeficiency 32B	Pneumonia, Bronchiectasis, Sinusitis	OMIM:226990
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Cerebellar atrophy, Hearing impai...	OMIM:619580
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Mandibular prognathia, Hydrocephalus, Macrocephaly	OMIM:248000
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Anteverted nares, Micrognathia, High palate, Facial palsy, Dysphagia, Sho...	OMIM:614744
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Steppage gait, Hydrocephalus, Inability to walk by childhood/adolescence, Sensorineural hearing i...	ORPHA:99947
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplastic left heart, Ventriculomegaly, Ventricular septal defect	ORPHA:2772
Surfactant Metabolism Dysfunction, Pulmonary, 1	Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int...	OMIM:265120
Fibromuscular Dysplasia, Multifocal	Pulmonary artery aneurysm, Celiac artery dissection, Tortuous cerebral arteries, Narrow nose, Dil...	OMIM:619329
Acalvaria	Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spina bifida	ORPHA:945
Spinocerebellar Ataxia 50	Cerebellar vermis atrophy, Cerebellar atrophy, Hearing impairment, Ataxia	OMIM:620158
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Secondary microcephaly, Micrognathia, Pontocerebellar atrophy, Ataxia	OMIM:608799
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Atrial septal defect	OMIM:620094
Pontocerebellar Hypoplasia, Type 2E	Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Large earlobe, Secondary microcephaly, Mi...	OMIM:615851
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia	OMIM:242050
Joubert Syndrome 7	Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:611560
Intellectual Developmental Disorder, Autosomal Dominant 56	Broad-based gait, Lateral ventricle dilatation, Secondary microcephaly, Inability to walk, Pontoc...	OMIM:617854
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypercalcemia, Hyperuricemia	ORPHA:199299
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Hepatic failure, Pancreatic lymphangiectasis, Splenomegaly, Ventricul...	OMIM:235255
Hengel-Maroofian-Schols Syndrome	Cerebellar atrophy, Cerebral atrophy, Inability to walk, Gait imbalance, Microcephaly, Short stature	OMIM:619641
Developmental And Epileptic Encephalopathy 67	Gait disturbance, Cerebellar atrophy, Athetosis	OMIM:618141
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Low-set ears, Broad-based gait, Cupped ear, Retrognathia, Cerebellar vermis atrophy, Micrognathia...	OMIM:617101
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Ventriculomegaly, Secundum atrial septal defect, Patent ductus arteriosus	OMIM:620455
Mucolipidosis Iv	Dysplastic corpus callosum, Microcephaly, Cerebellar atrophy	OMIM:252650
Kagami-Ogata Syndrome	Splenomegaly, Ventricular septal defect, Atrial septal defect, Hepatomegaly, Patent ductus arteri...	OMIM:608149
Nephronophthisis 4	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia...	OMIM:606966
Riddle Syndrome	Pneumonia, Recurrent pneumonia, Otitis media, Recurrent sinusitis, Chronic sinusitis, Microcephal...	ORPHA:420741
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Coarctation of aorta, Atrial septal defect, Neutropenia, Thrombocytopenia, Patent ductus arterios...	OMIM:614857
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Cerebral atrophy, Aspiration pneumonia, Episodic tachypnea, Apnea, Loss of am...	ORPHA:79264
20P12.3 Microdeletion Syndrome	Ventriculomegaly, Atrial septal defect	ORPHA:261295
Intellectual Developmental Disorder, X-Linked 112	Abnormal heart morphology, Bicuspid aortic valve, Right aortic arch	OMIM:301111
Double Outlet Left Ventricle	Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bicuspid pulmonary valve, Pul...	ORPHA:3427
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Low-set ears, Cerebellar vermis hypoplasia, Mild hearing impairment, Micrognathia, Agenesis of co...	ORPHA:459061
Sifrim-Hitz-Weiss Syndrome	Bifid uvula, Ventriculomegaly, Anteriorly placed anus, Tetralogy of Fallot, Ventricular septal de...	OMIM:617159
Aneurysm-Osteoarthritis Syndrome	Arterial dissection, Bifid uvula, Dental malocclusion, Aortic dissection, Retrognathia, Arterial ...	ORPHA:284984
Image Syndrome	Hydronephrosis, Hypospadias	ORPHA:85173
Microscopic Polyangiitis	Uveitis, Episcleritis, Skin rash, Increased inflammatory response, Peritonitis, Pancreatitis, Art...	ORPHA:727
Van Esch-O'Driscoll Syndrome	Bifid uvula, Depressed nasal bridge, Retrognathia, Ventricular septal defect, Pulmonary artery st...	OMIM:301030
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Wide nasal bridge, Microretrognathia, Atelectasis, Bulbous nose, Anteverted nares, Cerebral hemor...	OMIM:620371
Galloway-Mowat Syndrome 9	Low-set ears, Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Secondary microcep...	OMIM:619603
Congenital Muscular Dystrophy, Fukuyama Type	Ventriculomegaly, Dilated cardiomyopathy, Hydrocephalus	ORPHA:272
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Bicuspid aortic valve, Secundum atrial septal defect, Patent ductus arteriosus	OMIM:613355
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Lymphopenia, Death in c...	OMIM:243150
Nephronophthisis 1	Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal...	OMIM:256100
Tetrasomy 5P	Low-set ears, Respiratory distress, Postnatal growth retardation, Micrognathia, Cerebellar hypopl...	ORPHA:3309
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Ventricular septal defect, Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, Holopros...	ORPHA:77298
C Syndrome	Wide nasal bridge, Micromelia, Anteverted nares, Renal cortical cysts, Micrognathia, Ventricular ...	OMIM:211750
Episodic Ataxia Type 1	Respiratory distress, Tip-toe gait, Cerebellar atrophy, Choreoathetosis	ORPHA:37612
Spinocerebellar Ataxia 34	Cerebral cortical atrophy, Cerebellar atrophy, Limb ataxia, Gait ataxia, Erythroderma, Ataxia, Dy...	OMIM:133190
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Falls	ORPHA:240085
Omodysplasia 1	Wide nasal bridge, Depressed nasal bridge, Rhizomelia, Short tibia, Micrognathia, Malar flattenin...	OMIM:258315
Autosomal Dominant Omodysplasia	Depressed nasal bridge, Rhizomelia, Short 1st metacarpal, Micrognathia, Malar flattening, Short h...	ORPHA:93328
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Hyperuricemia	OMIM:240000
Noonan Syndrome 2	Micrognathia, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Atrial sep...	OMIM:605275
Syndromic Diarrhea	Hepatic fibrosis, Peripheral pulmonary artery stenosis, Abnormal heart morphology, Tetralogy of F...	ORPHA:84064
Dystonia 22, Juvenile-Onset	Cerebellar atrophy, Dysdiadochokinesis, Dysmetria	OMIM:620453
Cadds	Ventriculomegaly, Cerebellar atrophy, Intrauterine growth retardation, Micrognathia, Sensorineura...	ORPHA:369942
Severe Acute Respiratory Syndrome	Respiratory distress, Dyspnea, Acute infectious pneumonia, Pharyngitis	ORPHA:140896
Laryngomalacia	Respiratory distress, Laryngomalacia	OMIM:150280
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Microcolon, Hepatic failure, Hydroureter, Megacystis, Intestinal malrotation, Portal hypertension...	OMIM:619431
3-Methylglutaconic Aciduria, Type V	Dilated cardiomyopathy, Normochromic microcytic anemia, Elevated circulating aspartate aminotrans...	OMIM:610198
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Caudate atrophy, Unsteady gait	OMIM:617435
Spinocerebellar Ataxia 13	Cerebellar atrophy, Hearing impairment, Limb ataxia, Limb dysmetria, Gait ataxia, Progressive cer...	OMIM:605259
Cardiomyopathy, Dilated, 2D	Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca...	OMIM:619371
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Cerebellar atrophy, Inability to walk, Sensorineural hearing impairment, Microcephaly, Brain atrophy	OMIM:614739
Glutamine Deficiency, Congenital	Low-set ears, Lateral ventricle dilatation, Subependymal cysts, Apnea, Neonatal death, Decreased ...	OMIM:610015
Vesicoureteral Reflux 3	Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico...	OMIM:613674
Prolidase Deficiency	Depressed nasal bridge, Recurrent pneumonia, Micrognathia, Splenomegaly, Hepatomegaly, Hyperimido...	OMIM:170100
Developmental And Epileptic Encephalopathy 111	Hypoplastic left heart, Biventricular hypertrophy, Nephrolithiasis, Pulmonary artery stenosis, Re...	OMIM:620504
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Depressed nasal bridge, Anteriorly placed anus, Cardiomyopathy, Anteverted nares, Micrognathia, A...	OMIM:217980
Congenital Heart Defects And Ectodermal Dysplasia	Atrioventricular canal defect	OMIM:617364
Wiedemann-Rautenstrauch Syndrome	Pneumonia, Secundum atrial septal defect, Prominent scalp veins, Hypoplasia of the thymus, Hydroc...	OMIM:264090
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen	OMIM:235400
Pontocerebellar Hypoplasia, Type 7	Low-set ears, Ventriculomegaly, Hypoplasia of the pons, Cerebral atrophy, Apnea, Micrognathia, Ce...	OMIM:614969
Spinocerebellar Ataxia Type 2	Cerebral cortical atrophy, Gait ataxia, Cerebellar Purkinje layer atrophy, Olivopontocerebellar h...	ORPHA:98756
Lacrimal Duct Defect	Conjunctivitis, Sinusitis	OMIM:149700
Acute Adrenal Insufficiency	Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating renin level	ORPHA:95409
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Hypoplastic left heart, Intestinal malrotation, Micrognathia, Abnormal aortic morphology, Bilater...	ORPHA:2001
Autism Spectrum Disorder Due To Auts2 Deficiency	Abnormal heart morphology, Atrial septal defect	ORPHA:352490
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Aganglionic megacolon, Ventricular septal defect	OMIM:235750
17P13.3 Microduplication Syndrome	High palate, Hypoplasia of penis, Short nose, Wide nose	ORPHA:217385
Spinocerebellar Ataxia, Autosomal Recessive 32	Gait ataxia, Limb ataxia, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem	OMIM:619862
Thanatophoric Dysplasia Type 1	Ventriculomegaly, Hydrocephalus, Atrial septal defect, Aplasia/Hypoplasia of the lungs, Patent du...	ORPHA:1860
Chromosome 5Q12 Deletion Syndrome	Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Macroglossia, Patent ductu...	OMIM:615668
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Cervical lymphadenopathy, Hepatosplenomegaly, Azoospermia, Splenomegaly, M...	OMIM:602782
Multiple Sulfatase Deficiency	Increased CSF protein concentration, Ventriculomegaly, Cerebellar atrophy, Hearing impairment, Ce...	OMIM:272200
Kyphoscoliotic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Subdural hemorrhage, Micrognathia, Antenatal intracerebral hemorrhage, M...	ORPHA:536545
Suleiman-El-Hattab Syndrome	Recurrent respiratory infections, Patent foramen ovale, Ventricular septal defect, Hydronephrosis...	OMIM:618950
Acrocardiofacial Syndrome	Tetralogy of Fallot, Mitral stenosis, Death in infancy, Truncus arteriosus, Ventricular septal de...	ORPHA:2008
Leptospirosis	Hyperproteinemia	ORPHA:509
Crouzon Syndrome	Hypoplasia of the maxilla, Conductive hearing impairment, Hearing impairment, Chiari malformation...	ORPHA:207
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Ventriculomegaly, Cerebellar atrophy, Sensorineural hearing impairment, Microcephaly, Growth delay	ORPHA:466934
Congenital Muscular Dystrophy With Cerebellar Involvement	Ventriculomegaly, Occipital encephalocele, Hypoplasia of the pons, Dilated fourth ventricle, Abno...	ORPHA:370959
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Unsteady gait, Hypoplasia of the pons, Agenesis of corpus callosum	OMIM:617542
Acromicric Dysplasia	Small hand, Bulbous nose, Anteverted nares, Short palm, Short metacarpal, Short nose	ORPHA:969
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Bardet-Biedl Syndrome 6	Renal cyst, Hypospadias	OMIM:605231
De Barsy Syndrome	Prominent veins on trunk, Ventricular septal defect, Persistent left superior vena cava, Recurren...	ORPHA:2962
Spinocerebellar Ataxia 27B, Late-Onset	Gait ataxia, Limb ataxia, Cerebellar atrophy	OMIM:620174
Trisomy 17P	Aortic valve stenosis, Hypoplastic left heart, Hydronephrosis, Patent ductus arteriosus, Macroglo...	ORPHA:261290
Aicardi-Goutieres Syndrome 9	Lower limb hypertonia, Hepatosplenomegaly, Stage 5 chronic kidney disease, Renal insufficiency, P...	OMIM:619487
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Cerebellar hypoplasia, Occipital encephalocele, Hydrocephalus	ORPHA:352682
Congenital Laryngeal Web	Respiratory distress, Short stature, Laryngomalacia	ORPHA:2374
Galloway-Mowat Syndrome 6	Cerebellar atrophy, Cerebellar vermis atrophy, Intrauterine growth retardation, Microcephaly, Sho...	OMIM:618347
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Pancreatitis, Choreoathetosis, Growth delay	ORPHA:289916
Robinow Syndrome, Autosomal Recessive 2	Wide nasal bridge, Mesomelia, Broad nasal tip, Anteverted nares, Cleft soft palate, Micrognathia,...	OMIM:618529
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Recurrent pneumonia, Acute myelomonocytic leukemia, Secundum atrial septal defect, Ventriculomega...	ORPHA:99646
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Aortic root aneurysm, Generalized arterial tortuosity, Micrognathi...	OMIM:610168
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Depressed nasal bridge, Anteverted nares, Short ribs, Limb undergrowth, Patent ductus arteriosus,...	OMIM:618961
Duane-Radial Ray Syndrome	Renal hypoplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Vesicoureteral r...	OMIM:607323
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Low-set ears, Ventriculomegaly, Lateral ventricle dilatation, Inability to walk, Dilated fourth v...	OMIM:613443
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Slc35A2-Cdg	Cerebellar atrophy, Lateral ventricle dilatation, Cerebral atrophy, Inability to walk, Intrauteri...	ORPHA:356961
Chung-Jansen Syndrome	High palate, Micrognathia, Anteverted nares, Short nose	OMIM:617991
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Neurodegeneration, Micrognathia, Neuron...	OMIM:256600
Hydrolethalus Syndrome 2	Ventriculomegaly, Micrognathia, Agenesis of corpus callosum, Hydrocephalus, Anencephaly	OMIM:614120
Trisomy 8P	Dysplastic aortic valve, Short nose, Short 1st metacarpal, Tetralogy of Fallot, Abnormal left ven...	ORPHA:264450
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Facial hypotonia, Mitral valve prolapse, Patent foramen ovale, Camptodactyly, High palate, Short ...	OMIM:615539
Stuve-Wiedemann Syndrome 1	Wide nasal base, Flexion contracture of toe, Carious teeth, Smooth tongue, Short tibia, Elbow fle...	OMIM:601559
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Lateral ventricle dilatation, Large earlobe, Inability to walk, Microcephaly, Growth delay	OMIM:615716
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Intrauterine growth retardation, Dysmetri...	OMIM:617710
Inverted Duplicated Chromosome 15 Syndrome	Tetralogy of Fallot, High palate, Ventricular septal defect	ORPHA:3306
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Ventriculomegaly, Cerebellar vermis atrophy, Gait ataxia, Delayed puberty, Short stature, Relativ...	OMIM:300354
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development	Spastic gait, Cerebellar atrophy, Ataxia	OMIM:607565
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hematochezia, Gastrointestinal carcinoma, Epistaxis, Aortic dissection, Juvenile gastrointestinal...	OMIM:175050
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated circulating hepatic transaminase concentration, Atrial septal defect, Decreased liver fu...	OMIM:615160
Developmental And Epileptic Encephalopathy 93	Cerebellar atrophy, Cerebral atrophy, Inability to walk, Microcephaly, Gait disturbance	OMIM:618012
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Microcephaly, Ataxia, Short stature, Choreoathetosis	OMIM:612438
Spinocerebellar Ataxia 26	Truncal ataxia, Gait ataxia, Limb ataxia, Cerebellar atrophy	OMIM:609306
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Progressive microcephaly	OMIM:614741
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine	Cerebellar atrophy, Progressive cerebellar ataxia	OMIM:618412
Mucolipidosis Type Ii	Depressed nasal bridge, Cardiomyopathy, Hepatosplenomegaly, Diastasis recti, Splenomegaly, Abnorm...	ORPHA:576
Spinocerebellar Ataxia 48	Gait ataxia, Cerebellar atrophy, Dysmetria, Ataxia	OMIM:618093
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Hypocalcemia	ORPHA:89937
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Aortic root aneurysm, Atrial septal defect, Ventricular septal defect	OMIM:301039
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased urine alpha-ketoglutarate concentration, Ketonuria, Dicarboxylic aciduria, 3-hydroxydic...	OMIM:619355
Tarp Syndrome	Hepatic failure, Meckel diverticulum, Subdural hemorrhage, Horseshoe kidney, Tetralogy of Fallot,...	OMIM:311900
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Ventriculomegaly, Cerebellar atrophy, Hearing impairment, Ataxia, Short stature	OMIM:618547
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Cerebellar atrophy, Cerebral atrophy, Increased CSF lactate, Elevated CSF fumarate concentration,...	OMIM:619060
Genitopalatocardiac Syndrome	Abnormal mesentery morphology, Abnormality of the gallbladder, Hydrocephalus, Abnormal cardiac se...	ORPHA:2075
Multifocal Atrial Tachycardia	Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Left ventricular di...	ORPHA:3282
Joubert Syndrome 35	Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections	OMIM:618161
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Hearing impairment, Neurodegeneration, Increased CSF lactate, Agenesis of cor...	OMIM:616239
Baller-Gerold Syndrome	Finger aplasia, Aplasia/Hypoplasia of the radius, Anteriorly placed anus, Abnormality of the uret...	ORPHA:1225
Temple-Baraitser Syndrome	Atrial septal defect, Pulmonic stenosis	OMIM:611816
Potocki-Shaffer Syndrome	Micropenis, Underdeveloped nasal alae, Short nose, Wide nasal bridge	OMIM:601224
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Depressed nasal bridge, Underdeveloped nasal alae, Short femo...	OMIM:619127
Pontocerebellar Hypoplasia, Type 13	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Hypoplasia of the pons, Inability to ...	OMIM:618606
Brunet-Wagner Neurodevelopmental Syndrome	Cerebellar atrophy, Cerebral atrophy	OMIM:619690
Al-Raqad Syndrome	Atrial septal defect, Short nose	OMIM:616459
Wolfram Syndrome 1	Hydroureter, Cardiomyopathy, Stroke-like episode, Hydronephrosis, Neurogenic bladder, Dysphagia	OMIM:222300
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Abnormal cerebral vascular morphology, Abnormal heart valve morphology, Di...	ORPHA:363705
Short Stature, Microcephaly, And Endocrine Dysfunction	Unilateral renal agenesis, Renal hypoplasia, Dilated cardiomyopathy, Micropenis, Ectopic kidney	OMIM:616541
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Short distal phalanx of finger, Broad nasal tip, Short toe, Anteriorly placed ...	OMIM:239300
Trigonocephaly With Short Stature And Developmental Delay	High palate, Ventricular septal defect	OMIM:314320
Congenital Disorder Of Glycosylation, Type Il	Depressed nasal bridge, Villous atrophy, Splenomegaly, Hepatomegaly, Atrial septal defect, Perica...	OMIM:608776
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Multiple bladder diverticula, Recurrent pneumonia, Urethral...	ORPHA:90349
Huppke-Brendel Syndrome	Inability to walk, Cerebellar atrophy, Hearing impairment, Cerebral atrophy	OMIM:614482
Spastic Paraplegia 51, Autosomal Recessive	Cerebral cortical atrophy, Ventriculomegaly, Prominent antihelix, Cerebellar atrophy, Inability t...	OMIM:613744
Lethal Congenital Contracture Syndrome 2	Hydronephrosis, Dilated cardiomyopathy, Ventricular septal defect	OMIM:607598
Camptodactyly Syndrome, Guadalajara Type 1	Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Short toe, Camptodac...	ORPHA:1327
Spastic Ataxia 2, Autosomal Recessive	Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Dysmetria, Spastic ataxia	OMIM:611302
Alfadhel Syndrome	Low-set ears, Retrognathia, Microcephaly, Short stature, Nasal flaring	OMIM:620655
Whim Syndrome	Pneumonia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Lymphadenitis, Paro...	ORPHA:51636
Succinic Acidemia	Respiratory distress	OMIM:600335
Joubert Syndrome 21	Occipital encephalocele, Apnea, Encephalocele, Chronic sinusitis, Sensorineural hearing impairmen...	OMIM:615636
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Hepatic failure, Pancreatic lymphangiectasis, Hepatosplenomegaly, Spl...	ORPHA:1655
Cardiofaciocutaneous Syndrome 3	Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect	OMIM:615279
Spinocerebellar Ataxia Type 20	Gait ataxia, Cerebellar atrophy, Ataxia	ORPHA:101110
Microcephaly 26, Primary, Autosomal Dominant	Wide nasal bridge, Recurrent pneumonia, Prominent nasal bridge, Protruding tongue, Patent foramen...	OMIM:619179
Greig Cephalopolysyndactyly Syndrome	Agenesis of corpus callosum, Hydrocephalus, Macrocephaly	ORPHA:380
Combined Oxidative Phosphorylation Deficiency 25	Low-set ears, Ventriculomegaly, Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Asp...	OMIM:616430
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Short nose	ORPHA:2429
Frontoocular Syndrome	High palate, Atrial septal defect, Pulmonic stenosis	OMIM:605321
Trigonocephaly-Short Stature-Developmental Delay Syndrome	High palate, Ventricular septal defect	ORPHA:3369
Chromosome 6Q11-Q14 Deletion Syndrome	Broad nasal tip, Micrognathia, Prominent nasal bridge, High palate, Short nose	OMIM:613544
Ataxia-Telangiectasia	Ataxia, Dysdiadochokinesis, Inability to walk, Microcephaly, Delayed puberty, Sinusitis, Short st...	OMIM:208900
Brown-Vialetto-Van Laere Syndrome 1	Hearing impairment, Respiratory distress, Nocturnal hypoventilation, Abnormal cerebellum morpholo...	OMIM:211530
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebral cortical atrophy, Cerebellar atrophy, Dysmetria, Loss of ambulation, Delayed puberty, At...	OMIM:607694
Houge-Janssens Syndrome 2	Ventriculomegaly, Inability to walk, Gait ataxia, Agenesis of corpus callosum, Microcephaly, Hydr...	OMIM:616362
Kaya-Barakat-Masson Syndrome	Microcephaly, Intrauterine growth retardation, Cerebellar atrophy, Cerebral atrophy	OMIM:619125
Spinocerebellar Ataxia 5	Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Cerebellar hypoplasia,...	OMIM:600224
Fetal Alcohol Syndrome	Anteverted nares, Micrognathia, Congenital diaphragmatic hernia, Atrial septal defect, Short nose...	ORPHA:1915
Developmental Delay With Or Without Dysmorphic Facies And Autism	Wide nasal bridge, Depressed nasal bridge, Renal hypoplasia, Microphallus, Bulbous nose, Narrow n...	OMIM:618454
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Wide nasal bridge, Ketonuria, Bilateral superior vena cava, Anteriorly placed anus, Hypertrophic ...	OMIM:220111
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Temple Syndrome	Short stature, Postnatal growth retardation, Relative macrocephaly, Hydrocephalus	ORPHA:254516
Developmental And Epileptic Encephalopathy 75	Wide nasal bridge, Anteverted nares, Cardiomyopathy, Short nose	OMIM:618437
Igg4-Related Kidney Disease	Chronic kidney disease, Arteritis, Urethritis, Abnormal mesentery morphology, Hematuria, Tubuloin...	ORPHA:449395
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Cerebellar atrophy, Micrognathia, Dysmetria, Microcephaly, Ataxia, Dysdiadochokinesis	OMIM:618356
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dilatation, Difficulty walking, Ga...	ORPHA:488627
Huntington Disease-Like 1	Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Gait ataxia, Dysmetria, Gait dis...	ORPHA:157941
Ochoa Syndrome	Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie...	ORPHA:2704
Noonan Syndrome 9	Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect	OMIM:616559
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Ventriculomegaly, Velopharyngeal insufficiency, Abnormal heart morphology, Muscular ventricular s...	ORPHA:363444
Pheochromocytoma	Hypercalcemia	OMIM:171300
Sandhoff Disease, Juvenile Form	Gait disturbance, Cerebellar atrophy, Cerebral atrophy, Ataxia	ORPHA:309162
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Conotruncal defect, Median cleft palate, Hypoplasia of the thymus,...	ORPHA:40366
Igg4-Related Pachymeningitis	Nephritis, Increased CSF protein concentration, Lymphadenitis, Parotitis, Pancreatitis, Sinusitis...	ORPHA:449427
Rhombencephalosynapsis	Ataxia, Ventriculomegaly, Microretrognathia, Low-set, posteriorly rotated ears, Fusion of the cer...	ORPHA:59315
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Protruding ear, Microcephaly, Colpocephaly, Cerebellar hypoplasia	OMIM:618731
Mucopolysaccharidosis-Plus Syndrome	Bone marrow hypocellularity, Recurrent pneumonia, Hypertrophic cardiomyopathy, Leukopenia, Spleno...	OMIM:617303
Fanconi Anemia, Complementation Group F	Renal hypoplasia, Microphallus, Vesicoureteral reflux, Atrial septal defect, Pelvic kidney	OMIM:603467
Fraser Syndrome 2	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of...	OMIM:617666
Spinocerebellar Ataxia Type 14	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia	ORPHA:98763
Peho Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Malar flattening, Microcephaly, ...	ORPHA:2836
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Agenesis of corpus callosum, Hydrocephalus, Macrocephaly	OMIM:307000
Thrombotic Thrombocytopenic Purpura, Hereditary	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia	OMIM:614859
Exstrophy-Epispadias Complex	Penoscrotal transposition, Renal hypoplasia, Renal dysplasia, Horseshoe kidney, Abnormality of th...	ORPHA:322
Microform Holoprosencephaly	Choanal atresia, Tetralogy of Fallot, Narrow nasal bridge, Anteverted nares, EMG: myopathic abnor...	ORPHA:280200
Coffin-Siris Syndrome 5	Atrial septal defect, Dandy-Walker malformation	OMIM:616938
Temple Syndrome	Recurrent otitis media, Intrauterine growth retardation, Micrognathia, Hydrocephalus, Short statu...	OMIM:616222
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic valve stenosis, Tetralogy of Fallot, Anteverted nares, Vesicoureteral reflux, Renal insuff...	ORPHA:96147
Baker-Gordon Syndrome	Prominent nasal tip, Gastroesophageal reflux, Short nose	OMIM:618218
Marinesco-Sjogren Syndrome	Cerebellar atrophy, Limb ataxia, Gait ataxia, Microcephaly, Ataxia, Short stature, Cerebellar cor...	OMIM:248800
Mitochondrial Complex I Deficiency, Nuclear Type 26	Choreoathetosis, Cerebellar atrophy, Hearing impairment, Cerebral atrophy	OMIM:618247
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Gastroesophageal reflux, Intestinal malrotation, Ventricular septal defect, Hydronephrosis, Atria...	ORPHA:457193
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Low-set ears, Ventriculomegaly, Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Promine...	OMIM:618659
Chondrodysplasia With Joint Dislocations, Gpapp Type	Wide nasal bridge, Short toe, Micrognathia, Limb undergrowth, Short nose, Short foot, Short metac...	OMIM:614078
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hypoplasia of the pons, Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus, Cerebellar cyst	OMIM:615181
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Depressed nasal bridge, Nephrocalcinosis, Restrictive cardiomyopathy, Hydroureter, Ureteral steno...	OMIM:615398
Perlman Syndrome	Interrupted aortic arch, Distal ileal atresia, Volvulus, Pancreatic islet-cell hyperplasia	OMIM:267000
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ataxia, Ventriculomegaly, Craniofacial osteosclerosis, Neurodegeneration, Difficulty walking, Age...	OMIM:618476
Johanson-Blizzard Syndrome	Ventricular septal defect, Elevated circulating alanine aminotransferase concentration, Atrial se...	OMIM:243800
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Ventriculomegaly, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Patent d...	OMIM:618870
9Q21.13 Microdeletion Syndrome	Hydronephrosis, Gastrointestinal dysmotility, Abnormal heart morphology, Abnormal tongue morphology	ORPHA:531151
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad...	OMIM:614527
Gaucher Disease Type 2	Respiratory distress, Abnormal pattern of respiration	ORPHA:77260
Biemond Syndrome Type 2	Short stature, Delayed puberty, Hydrocephalus	ORPHA:141333
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Natal tooth, Delayed eruption of teeth, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxi...	OMIM:614381
Robinow Syndrome	Flared nostrils, Multicystic kidney dysplasia, Ankyloglossia, Micrognathia, Marked delay in erupt...	ORPHA:97360
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cervical myelopathy, Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy, S...	OMIM:619260
Mucopolysaccharidosis, Type Ii	Recurrent pneumonia, Intestinal pseudo-obstruction, Abnormal heart valve morphology, Hepatospleno...	OMIM:309900
Developmental And Epileptic Encephalopathy 90	Atrial septal defect	OMIM:301058
Teebi Hypertelorism Syndrome 2	Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Short nose, High palate, Hypo...	OMIM:619736
Liang-Wang Syndrome	Macrodontia of permanent maxillary central incisor, Cerebellar atrophy, Cerebral atrophy, Ataxia,...	OMIM:618729
Nijmegen Breakage Syndrome	Recurrent pneumonia, Recurrent otitis media, Malar prominence, Intrauterine growth retardation, M...	OMIM:251260
Ataxia-Pancytopenia Syndrome	Unsteady gait, Cerebellar atrophy, Dysmetria, Ataxia	OMIM:159550
Spastic Ataxia 9, Autosomal Recessive	Cerebellar vermis atrophy, Growth delay, Dysmetria, Ataxia	OMIM:618438
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Cerebellar atrophy, Cerebral atrophy, Inability to walk, Gait ataxia, Ataxia, Unsteady gait	ORPHA:1947
Megalencephaly	Atrial septal defect	ORPHA:2477
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Protein-losing enteropathy, Pericardial lymphangiectasia, Intestinal lymphangiectasia, Horseshoe ...	OMIM:235510
Congenital Myopathy 10A, Severe Variant	Respiratory distress	OMIM:614399
Weill-Marchesani Syndrome	Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect	ORPHA:3449
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development	Ventricular septal defect	OMIM:209770
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Intestinal malrotation, Di...	ORPHA:2973
Mitochondrial Trifunctional Protein Deficiency	Cardiomyopathy, Lower limb muscle weakness, Rhabdomyolysis, Skeletal myopathy, Left ventricular h...	ORPHA:746
Intellectual Developmental Disorder, X-Linked 30	Short stature, Microcephaly, Hydrocephalus, Macrotia	OMIM:300558
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Pontocerebellar Hypoplasia, Type 1D	Low-set ears, Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Intrauterine growt...	OMIM:618065
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Ventriculomegaly, Agenesis of corpus callosum, Sensorineural hearing impairment, Microcephaly, Co...	OMIM:615219
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Submucous cleft hard palate, Bifid uvula, Atrial septal defect, Pulmonic stenosis	OMIM:619239
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Cerebral cortical atrophy, Growth delay, Retrognathia, Cerebellar atrophy, Inability to walk, Dys...	OMIM:619576
Snijders Blok-Campeau Syndrome	Ventriculomegaly, Perimembranous ventricular septal defect, Atrial septal defect, High palate, Pu...	OMIM:618205
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent pneumonia, Recurrent sinusitis, Eosinophilia, Atrial septal defect, High palate, Recurr...	OMIM:618282
D-2-Hydroxyglutaric Aciduria 1	Lateral ventricle dilatation, Subependymal cysts, Micrognathia, Apnea, Macrocephaly, Elevated CSF...	OMIM:600721
Congenital Myopathy 12	High, narrow palate, Joint contracture of the hand, Pulmonary artery stenosis, Jaw contracture, C...	OMIM:612540
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent left superior ...	OMIM:618775
Microsporidiosis	Pneumonia, Nephritis, Lymphadenitis, Hepatitis, Keratitis, Pharyngitis, Osteomyelitis, Infectious...	ORPHA:2552
Alkuraya-Kucinskas Syndrome	Depressed nasal bridge, Arthrogryposis multiplex congenita, Anteverted nares, Micrognathia, Pleur...	OMIM:617822
Phosphoribosylpyrophosphate Synthetase Superactivity	Abnormal aortic morphology, Cardiomyopathy	ORPHA:3222
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, Cholestasis...	OMIM:615710
Combined Oxidative Phosphorylation Deficiency 32	Cerebellar atrophy, Increased CSF lactate, Inability to walk, Microcephaly, Choreoathetosis	OMIM:617664
Proteus Syndrome	Splenomegaly, Venous malformation, Lymphangioma	OMIM:176920
Fg Syndrome Type 1	Ventriculomegaly, Abnormal large intestine morphology, Mitral valve prolapse, Coarctation of aort...	ORPHA:93932
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Ectopic anus, Spina bifida, Anal atresia, Cleft palate	ORPHA:2345
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis	OMIM:614379
Ebstein Malformation Of The Tricuspid Valve	Imperforate tricuspid valve, Abnormal endocardium morphology, Atrial septal defect, Abnormal card...	ORPHA:1880
Limb Body Wall Complex	Abnormal heart morphology, Myelomeningocele, Abnormality of the liver, Encephalocele, Ventricular...	ORPHA:2369
Chromosome 19Q13.11 Deletion Syndrome, Distal	Wide nasal bridge, Carious teeth, Retrognathia, Underdeveloped nasal alae, Anteverted nares, Micr...	OMIM:613026
Immunodeficiency 114, Folate-Responsive	Atopic dermatitis, Carious teeth, Cerebellar atrophy, Cerebral atrophy, Postnatal growth retardation	OMIM:620603
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Ventriculomegaly, Ventricular septal defect, Atrial septal defect, Dandy-Walker malformation, Hig...	OMIM:220500
Tatton-Brown-Rahman Syndrome	Ventriculomegaly, Aortic root aneurysm, Atrial septal defect, Myeloid leukemia, Patent ductus art...	ORPHA:404443
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Bifid uvula, Submucous cleft of soft and hard palate, Lateral ventricle di...	ORPHA:261537
Donnai-Barrow Syndrome	Depressed nasal bridge, Broad nasal tip, Intestinal malrotation, Congenital diaphragmatic hernia,...	OMIM:222448
Tyshchenko Syndrome	High, narrow palate, Narrow palate, Ventricular septal defect, Atrial septal defect, High palate,...	OMIM:615102
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ventriculomegaly, Micrognathia, Hydrocephalus, Agenesis of corpus callosum	OMIM:618577
Chiari Malformation Type Ii	Cervical myelopathy, Chiari malformation, Myelomeningocele, Agenesis of corpus callosum, Hydrocep...	OMIM:207950
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pat...	ORPHA:329224
Trisomy 1Q	Ventriculomegaly, Ventricular septal defect, Hydrocephalus, Anal atresia, Patent ductus arteriosu...	ORPHA:261344
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Increased CSF protein concentration, Abnormal medulla oblongata morphology, Ataxia, Ab...	ORPHA:68
Alg9-Cdg	Hypoplasia of the musculature, Micrognathia, Ventricular septal defect, Atrial septal defect, Tor...	ORPHA:79328
Muscle-Eye-Brain Disease	Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Hydrocephalus, Meningocele, Holoprosencep...	ORPHA:588
Combined Oxidative Phosphorylation Defect Type 27	Diffuse cerebellar atrophy, Hearing impairment, Diffuse cerebral atrophy	ORPHA:477774
Ehlers-Danlos Syndrome, Classic Type, 2	Recurrent sinusitis	OMIM:130010
Diamond-Blackfan Anemia 4	Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Atrial septal defect, Neutropenia	OMIM:612527
Wars2-Related Combined Oxidative Phosphorylation Defect	Low-set ears, Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar atrophy, Lateral ventric...	ORPHA:572798
Gaucher Disease, Type Ii	Hepatomegaly, Double aortic arch, Splenomegaly	OMIM:230900
Houge-Janssens Syndrome 1	Ventriculomegaly, Intrauterine growth retardation, Gait ataxia, Hydrocephalus, Macrocephaly	OMIM:616355
Cog8-Cdg	Ventriculomegaly, Cerebellar atrophy, Progressive microcephaly, Atrophy/Degeneration affecting th...	ORPHA:95428
Joubert Syndrome 14	Encephalocele, Ventricular septal defect, Hydrocephalus, Dandy-Walker malformation, Meningocele, ...	OMIM:614424
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Wide nasal bridge, Gastroesophageal reflux, Velopharyngeal insufficiency, Intestinal malrotation,...	OMIM:614701
Clark-Baraitser Syndrome	Depressed nasal bridge, Anteverted nares, High palate, Low hanging columella, Short nose	OMIM:617752
Leukodystrophy, Hypomyelinating, 12	Ventriculomegaly, Cerebellar atrophy, Hearing impairment, Secondary microcephaly, Microcephaly	OMIM:616683
Ciliary Dyskinesia, Primary, 41	Recurrent otitis media, Bronchiectasis, Recurrent sinusitis	OMIM:618449
Nipah Virus Disease	Respiratory distress, Recurrent pharyngitis, Infectious encephalitis	ORPHA:99825
Methylcobalamin Deficiency Type Cble	Ventriculomegaly, Hearing impairment, Postnatal growth retardation, Intrauterine growth retardati...	ORPHA:2169
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Microcephaly, Cerebellar atrophy, Sensorineural hearing impairment	ORPHA:544503
Lethal Congenital Contracture Syndrome 10	Narrow palate, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Overriding aort...	OMIM:617022
Krabbe Disease	Increased CSF protein concentration, Hearing impairment, Neurodegeneration, Diffuse cerebral atro...	OMIM:245200
Mowat-Wilson Syndrome	Aortic valve stenosis, Bifid uvula, Submucous cleft of soft and hard palate, Ventriculomegaly, Te...	ORPHA:2152
Zellweger Syndrome	Multicystic kidney dysplasia, Hepatic failure, Ventricular septal defect, Hydronephrosis, Hepatom...	ORPHA:912
Fusariosis	Pneumonia, Keratitis, Fasciitis, Osteomyelitis, Maculopapular exanthema, Myositis, Peritonitis, A...	ORPHA:228119
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Microcephaly, Disproportionate short-trunk short stature, Gait disturbance, Hydrocephalus, Macroc...	OMIM:613330
Mosaic Variegated Aneuploidy Syndrome 1	Depressed nasal bridge, Multicystic kidney dysplasia, Anteverted nares, Micrognathia, Malar flatt...	OMIM:257300
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Low-set ears, Ventriculomegaly, Retrognathia, Hypoplasia of the zygomatic bone, Abnormal dental e...	ORPHA:1812
Tangier Disease	Coronary artery stenosis, Hepatosplenomegaly, Facial diplegia, Left ventricular hypertrophy, Caro...	ORPHA:31150
Abruzzo-Erickson Syndrome	Atrial septal defect, Cleft palate	ORPHA:921
Hyperinsulinemic Hypoglycemia, Familial, 8	Atrial septal defect	OMIM:620211
Auriculocondylar Syndrome	Abnormality of the crus of the helix, Mandibular condyle aplasia, Dental malocclusion, Hearing im...	ORPHA:137888
Trigonocephaly 1	High, narrow palate, Wide nasal bridge, Long penis, Meckel diverticulum, Short nose	OMIM:190440
Joubert Syndrome With Oculorenal Defect	Cerebellar vermis hypoplasia, Low-set, posteriorly rotated ears, Apnea, Encephalocele, Tachypnea,...	ORPHA:2318
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Transie...	OMIM:115197
Developmental Delay With Or Without Epilepsy	Spastic gait, Microcephaly, Cerebellar atrophy, Ataxia	OMIM:620540
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Pontocerebellar Hypoplasia, Type 1B	Cerebellar atrophy, Cerebral atrophy, Progressive microcephaly, Cerebellar cyst, Growth delay	OMIM:614678
Ataxia-Telangiectasia-Like Disorder 2	Absent pubertal growth spurt, Cerebellar atrophy, Neurodegeneration, Sensorineural hearing impair...	OMIM:615919
Spondyloepimetaphyseal Dysplasia, Krakow Type	Annular pancreas, Hydrocephalus, Atrial septal defect, High palate, Patent ductus arteriosus	OMIM:618162
Distal Deletion 10Q	Wide nasal bridge, Acute kidney injury, Functional abnormality of the bladder, Horseshoe kidney, ...	ORPHA:96148
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Cerebellar vermis atrophy, Global brain atrophy, Steppage gait, Ataxia	ORPHA:94124
1Q44 Microdeletion Syndrome	Ventriculomegaly, Intestinal malrotation, Hydrocephalus, Abnormal cardiac septum morphology, High...	ORPHA:238769
Cognitive Impairment With Or Without Cerebellar Ataxia	Gait ataxia, Cerebellar atrophy, Dysmetria, Ataxia	OMIM:614306
Myopathy With Extrapyramidal Signs	Increased CSF protein concentration, Elevated circulating hepatic transaminase concentration, Leu...	OMIM:615673
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Low-set ears, Cerebellar vermis hypoplasia, Cerebellar atrophy, Micrognathia, Gait ataxia, Loss o...	OMIM:620089
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Ventriculomegaly, Atrial septal defect	ORPHA:500533
Miller-Dieker Lissencephaly Syndrome	Wide nasal bridge, Joint contracture of the hand, Delayed eruption of teeth, Abnormal heart morph...	OMIM:247200
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Ataxia, Ventriculomegaly, Cerebellar atrophy, Secondary microcephaly, Inability to walk, Microgna...	OMIM:617193
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Bifid uvula, Submucous cleft of soft and hard palate, Lateral ventricle di...	ORPHA:261552
Rhizomelic Dysplasia, Patterson-Lowry Type	Depressed nasal ridge, Rhizomelia, Short humerus, Mandibular prognathia, Short metacarpal, Short ...	ORPHA:2831
Fabry Disease	Nephropathy, Emphysema, Hypertrophic cardiomyopathy, Transient ischemic attack, Renal insufficien...	ORPHA:324
Purine Nucleoside Phosphorylase Deficiency	Pneumonia, Recurrent upper respiratory tract infections, Otitis media, Sinusitis, Ataxia	OMIM:613179
Autosomal Spastic Paraplegia Type 58	Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Gait ataxia, Dysmetria, Microcephaly, Spastic...	ORPHA:397946
Delpire-Mcneill Syndrome	Tracheoesophageal fistula, Ventricular septal defect	OMIM:619083
Gaucher Disease, Perinatal Lethal	Low-set ears, Ventriculomegaly, Retrognathia, Respiratory distress, Intrauterine growth retardati...	OMIM:608013
Beta-Mercaptolactate Cysteine Disulfiduria	High palate, Atrial septal defect	ORPHA:1035
Bor Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ...	ORPHA:107
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Zechi-Ceide Syndrome	Abnormal heart morphology, Atrial septal defect, Cleft palate	ORPHA:217017
Rubinstein-Taybi Syndrome 1	Accessory spleen, Hypoplastic left heart, Aortic isthmus hypoplasia, Mitral valve prolapse, Ventr...	OMIM:180849
Good Syndrome	Dyspnea, Recurrent skin infections, Bronchiectasis, Sinusitis	ORPHA:169105
Pseudohypoparathyroidism Type 1B	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:94089
Coffin-Siris Syndrome	Wide nasal base, Depressed nasal bridge, Recurrent upper respiratory tract infections, Broad nasa...	ORPHA:1465
Hypermanganesemia With Dystonia 2	Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Secondary microcephaly, Inability to walk, Mi...	OMIM:617013
Otopalatodigital Syndrome Type 2	Depressed nasal bridge, Short thumb, Camptodactyly of finger, Abnormal heart valve morphology, Ur...	ORPHA:90652
Seizures-Scoliosis-Macrocephaly Syndrome	Atrial septal defect	ORPHA:466926
Spinocerebellar Ataxia 2	Cerebellar atrophy, Dilated fourth ventricle, Limb ataxia, Olivopontocerebellar atrophy, Dysmetri...	OMIM:183090
Acrodysostosis 2 With Or Without Hormone Resistance	Depressed nasal bridge, Mandibular prognathia, Anteverted nares, Malar flattening, Short metatars...	OMIM:614613
Rapid-Onset Dystonia-Parkinsonism	Gait ataxia, Cerebellar atrophy	ORPHA:71517
Diencephalic Syndrome	Hydrocephalus, Macrotia	ORPHA:1672
Oculoauriculofrontonasal Syndrome	Encephalocele, Cleft palate, Ventricular septal defect	ORPHA:398156
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Sensorineural hearing impairment, Atrophy/Dege...	OMIM:616192
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Aortic valve calcification, Bacterial endocarditis, Cholelithiasis, Hepatic fibrosis, Ventriculom...	ORPHA:2072
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Ventriculomegaly, Atrial septal defect	OMIM:611087
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Low-set ears, Cerebral cortical atrophy, Extra-axial cerebrospinal fluid accumulation, Cerebellar...	OMIM:617763
Pfeiffer Syndrome Type 2	Low-set ears, Chiari malformation, Atresia of the external auditory canal, Respiratory distress, ...	ORPHA:93259
L-2-Hydroxyglutaric Aciduria	Global brain atrophy, Cerebellar atrophy, Hearing impairment, Corpus callosum atrophy, Ataxia	OMIM:236792
Warsaw Breakage Syndrome	Tetralogy of Fallot, High palate, Ventricular septal defect	OMIM:613398
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Unilateral renal agenesis, Renal hypoplasia, Ventricular hypertrophy, Vesicoureteral reflux, Vent...	OMIM:620654
Musculocontractural Ehlers-Danlos Syndrome	Malrotation of small bowel, Microretrognathia, Functional abnormality of the bladder, Decreased m...	ORPHA:2953
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Low-set ears, Cerebellar vermis hypoplasia, Ventriculomegaly, Microretrognathia, Cerebellar atrop...	OMIM:300966
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Limb ataxia, Dysmetria, Progressive gait ataxia, Truncal ataxia, Progressive ...	ORPHA:284289
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Low-set ears, Respiratory distress, Abnormal antitragus morphology, Dyspnea, Overfolded helix, Po...	ORPHA:2759
Neuropathy, Congenital Hypomyelinating, 3	Low-set ears, Cerebellar atrophy, Hearing impairment, Retrognathia, Micrognathia, Neonatal death,...	OMIM:618186
Combined Oxidative Phosphorylation Defect Type 39	Lateral ventricle dilatation, Cerebral atrophy, Tip-toe gait, Increased CSF lactate, Intrauterine...	ORPHA:565624
Microphthalmia With Limb Anomalies	Flared nostrils, Depressed nasal bridge, Finger aplasia, Camptodactyly of 2nd-5th fingers, Retrog...	OMIM:206920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Sensorineural hearing impairmen...	OMIM:615249
Spinocerebellar Ataxia Type 19/22	Broad-based gait, Cerebellar atrophy, Difficulty walking, Limb ataxia, Ataxia, Truncal ataxia	ORPHA:98772
Polyrrhinia	Abnormal third ventricle morphology, Lateral ventricle dilatation	ORPHA:141091
Spinocerebellar Ataxia Type 17	Ataxia, Cerebellar atrophy, Gait disturbance, Cerebellar Purkinje layer atrophy, Atrophy/Degenera...	ORPHA:98759
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Cerebellar vermis atrophy, Inability to walk, Dysmetria, Cerebellar hypoplasia, Microcephaly, Ata...	OMIM:618087
Spinocerebellar Ataxia Type 1	Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Gait imbalance, Dysmetria, G...	ORPHA:98755
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Low-set ears, Rhizomelia, Intrauterine growth retardation, Hydrocephalus, Macrocephaly, Short sta...	OMIM:300863
Spinocerebellar Ataxia 28	Gait ataxia, Limb ataxia, Cerebellar atrophy	OMIM:610246
Spinocerebellar Ataxia 25	Cerebellar atrophy, Hearing impairment, Ataxia	OMIM:608703
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Descending thoracic aorta aneurysm, High, narrow palate, Aortic root aneurysm, Mucoid extracellul...	ORPHA:91387
Phace Association	Arterial stenosis, Ventricular septal defect, Coarctation of aorta, Aortic aneurysm, Anomalous br...	OMIM:606519
Mosaic Trisomy 16	Meckel diverticulum, Anteriorly placed anus, Abnormal heart morphology, Ventricular septal defect...	ORPHA:1708
Khan-Khan-Katsanis Syndrome	Renal hypoplasia, Vesicoureteral reflux, Patent foramen ovale, Hydronephrosis, Renal cyst, Ureter...	OMIM:618460
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Pancreati...	OMIM:167800
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Micrognathia, Sensorineural hearing impairment, Short stature, Mixed hearin...	OMIM:606164
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hydronephrosis, Pulmonic stenosis	OMIM:620141
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Unilateral renal hypoplasia, Renal insufficiency, Ureteropelvic junction obs...	ORPHA:49041
Melanocytic Nevus Syndrome, Congenital	Broad nasal tip, Anteverted nares, Prominence of the premaxilla, Narrow nasal ridge, Short nose	OMIM:137550
Linear Skin Defects With Multiple Congenital Anomalies 1	Colonic atresia, Anteriorly placed anus, Histiocytoid cardiomyopathy, Ventricular septal defect, ...	OMIM:309801
Spinocerebellar Ataxia Type 42	Cerebellar atrophy, Cerebellar vermis atrophy, Psoriasiform dermatitis, Abnormal cerebellum morph...	ORPHA:458803
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Wide nasal bridge, Microretrognathia, Abnormal heart morphology, Bulbous nose, Short nose, Cleft ...	OMIM:618571
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Microcephaly, Lateral ventricle dilatation, Cerebral cortical atrophy	OMIM:617668
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H...	OMIM:601678
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Growth delay	OMIM:613561
Odontochondrodysplasia 1	Dentinogenesis imperfecta, Delayed eruption of teeth, Respiratory distress, Mesomelic short statu...	OMIM:184260
Buratti-Harel Syndrome	Bifid uvula, Recurrent pneumonia, Dilation of Virchow-Robin spaces, Velopharyngeal insufficiency,...	OMIM:619314
Lymphatic Malformation 7	Chylothorax, Pleural effusion, Pulmonary edema, Anemia, Atrial septal defect, Varicose veins, Per...	OMIM:617300
Stevenson-Carey Syndrome	Atrial septal defect, Left superior vena cava draining to coronary sinus	OMIM:611961
Infantile Neuroaxonal Dystrophy	Cerebellar atrophy, Aspiration pneumonia, Apneic episodes in infancy, Gait disturbance, Ataxia, C...	ORPHA:35069
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Bone marrow hypocellularity, Abnormal heart morphology, Hypertrophic cardiomyopathy, Hepatospleno...	ORPHA:505248
Spinocerebellar Ataxia 6	Cerebral cortical atrophy, Cerebellar atrophy, Dysmetria, Loss of ambulation, Ataxia, Truncal ata...	OMIM:183086
Recurrent Respiratory Papillomatosis	Recurrent upper respiratory tract infections, Recurrent pneumonia, Respiratory distress, Tachypne...	ORPHA:60032
Macrocephaly-Intellectual Disability-Autism Syndrome	Depressed nasal bridge, Penile freckling, Intestinal polyposis, Lymphoid nodular hyperplasia, Sho...	ORPHA:210548
Houge-Janssens Syndrome 3	Muscular ventricular septal defect, Ventriculomegaly, High palate, Atrial septal defect	OMIM:618354
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Low-set ears, Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation, Mic...	ORPHA:397715
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Abnormal cerebral vascular morphology, Venous insufficiency	ORPHA:745
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, ...	OMIM:618736
Cerebrofacioarticular Syndrome	Abnormal heart morphology, Renal hypoplasia, Hypospadias, Pulmonic stenosis	ORPHA:314679
Autosomal Dominant Progressive External Ophthalmoplegia	Dilated cardiomyopathy, Gastroesophageal reflux, Quadriceps muscle weakness, Shoulder girdle musc...	ORPHA:254892
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Limb ataxia, Gait ataxia, Axonal degeneration, Loss of ambulation, Ataxia, Tr...	OMIM:208920
Boucher-Neuhauser Syndrome	Spinocerebellar atrophy, Gait ataxia, Cerebellar atrophy, Ataxia	OMIM:215470
Lig4 Syndrome	Microcephaly, Psoriasiform dermatitis, Chronic sinusitis	OMIM:606593
Amelocerebrohypohidrotic Syndrome	Yellow-brown discoloration of the teeth, Abnormal dental enamel morphology, Amelogenesis imperfec...	ORPHA:1946
Joubert Syndrome 2	Low-set ears, Ataxia, Enlarged fossa interpeduncularis, Dysgenesis of the cerebellar vermis, Epis...	OMIM:608091
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Atrial septal defect	OMIM:620247
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Low-set ears, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Inability to walk, Post...	ORPHA:300570
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydronephrosis, Hydroureter	OMIM:618240
Hurler Syndrome	Cardiomyopathy, Abnormal heart valve morphology, Endocardial fibroelastosis, Splenomegaly, Death ...	ORPHA:93473
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Klippel-Feil Syndrome 2, Autosomal Recessive	Cleft palate, Ventricular septal defect	OMIM:214300
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Holoprosencephaly, Bilateral cleft palate, Anterior encephalocele, Ventricular septal defect	OMIM:601357
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Low-set ears, Rhizomelia, Intrauterine growth retardation, Micrognathia, Cerebellar hypoplasia, H...	ORPHA:163966
Omenn Syndrome	Hypoproteinemia	OMIM:603554
Moebius Syndrome	Respiratory distress, Micrognathia, Abnormal pinna morphology, Gait disturbance, Abnormal nasopha...	OMIM:157900
Poland Syndrome	Acute leukemia, Abnormality of the liver, Encephalocele, Atrial septal defect, Dextrocardia, Spin...	ORPHA:2911
Dpm1-Cdg	Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Secondary microcephaly, Micrognathia, Pon...	ORPHA:79322
Pallister-Hall Syndrome	Renal hypoplasia, Hydroureter, Distal urethral duplication, Ventricular septal defect, Hydronephr...	OMIM:146510
Cebalid Syndrome	Depressed nasal bridge, Depressed nasal ridge, Anteverted nares, Congenital diaphragmatic hernia,...	OMIM:618774
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Short stature, Cerebellar atrophy, Retrognathia, Cerebral atrophy	OMIM:620269
Contractural Arachnodactyly, Congenital	Aortic root aneurysm, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, At...	OMIM:121050
Peroxisome Biogenesis Disorder 6B	Cerebellar atrophy, Delayed menarche, Limb ataxia, Gait ataxia, Sensorineural hearing impairment,...	OMIM:614871
Diaphanospondylodysostosis	Depressed nasal ridge, Depressed nasal bridge, Horseshoe kidney, Micrognathia, Missing ribs, Shor...	OMIM:608022
Kapur-Toriello Syndrome	Tetralogy of Fallot, Intestinal malrotation, Patent ductus arteriosus, Ventricular septal defect	ORPHA:2328
Peroxisome Biogenesis Disorder 1A (Zellweger)	High, narrow palate, Hypospadias, Aminoaciduria, Protruding tongue, Ventricular septal defect, Hy...	OMIM:214100
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Intrauterine growth retardation, Micr...	ORPHA:284417
Lateral Meningocele Syndrome	Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, Hydrocephalus, Meningocele, Hi...	OMIM:130720
17Q12 Microduplication Syndrome	Tracheoesophageal fistula, Atrial septal defect, Cleft palate	ORPHA:261272
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Low-set ears, Abnormal dental enamel morphology, Malar flattening, Hydrocephalus, Macrocephaly, M...	ORPHA:2180
White Forelock With Malformations	Spina bifida occulta, Atrial septal defect	ORPHA:2475
Vitamin K Antagonist Embryofetopathy	Depressed nasal bridge, Choanal atresia, Short distal phalanx of finger, Anteverted nares, Macrog...	ORPHA:1914
Combined Oxidative Phosphorylation Deficiency 29	Increased CSF protein concentration, Global brain atrophy, Cerebellar atrophy, Increased CSF lact...	OMIM:616811
Biotinidase Deficiency	Myelopathy, Hearing impairment, Eczematoid dermatitis, Respiratory distress, Apnea, Skin rash, Se...	ORPHA:79241
Koolen-De Vries Syndrome	High, narrow palate, Vesicoureteral reflux, Renal duplication, Hydronephrosis, Bicuspid aortic va...	ORPHA:96169
Joubert Syndrome 37	Hydronephrosis, Hepatomegaly, High palate, Micropenis	OMIM:619185
Phosphoribosylaminoimidazole Carboxylase Deficiency	Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Anteverted nares, Missing rib...	OMIM:619859
Zaki Syndrome	Renal agenesis, Patent foramen ovale, Hydronephrosis, High palate, Patent ductus arteriosus	OMIM:619648
Lethal Recessive Chondrodysplasia	Respiratory distress, Micrognathia	ORPHA:1423
Congenital Pulmonary Valvar Stenosis	Atrial septal defect	ORPHA:3189
Fibrochondrogenesis 1	Depressed nasal bridge, Joint contracture of the hand, Hypoplastic scapulae, Small hand, Rhizomel...	OMIM:228520
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Left ventricular hypertrophy, Dilated cardiomyopathy	OMIM:618321
Noonan Syndrome With Multiple Lentigines	Wide nasal bridge, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Abnormal pulmonary...	ORPHA:500
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Nephroblastoma	OMIM:612918
Miller-Dieker Syndrome	Nephropathy, Anteverted nares, Short nose	ORPHA:531
Lambotte Syndrome	Semilobar holoprosencephaly, Ventricular septal defect	OMIM:245552
Genetic Recurrent Myoglobinuria	Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase	ORPHA:99845
3P25.3 Microdeletion Syndrome	High, narrow palate, Coronary artery atherosclerosis, Ventricular septal defect, Atrial septal de...	ORPHA:435638
Lipoyltransferase 1 Deficiency	Ventriculomegaly, Cerebellar atrophy	OMIM:616299
Spinocerebellar Ataxia 36	Cerebellar atrophy, Hearing impairment, Limb ataxia, Gait ataxia, Ataxia, Truncal ataxia	OMIM:614153
Andersen-Tawil Syndrome	Renal hypoplasia, Dilated cardiomyopathy, Renal tubular dysfunction	ORPHA:37553
Episodic Ataxia, Type 6	Cerebellar hypoplasia, Truncal ataxia, Cerebellar atrophy, Episodic ataxia	OMIM:612656
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea, Recurrent upper respiratory tract infections	OMIM:263000
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Low-set ears, Mandibular prognathia, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Prom...	OMIM:617804
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress	ORPHA:91130
Pde4D Haploinsufficiency Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Mandibular prognathia, Short toe, Upper limb u...	ORPHA:439822
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bifid uvula, Gastroesophageal reflux, Abnormal heart morphology, Furrowed tongue, Atrioventricula...	ORPHA:453499
Addison Disease	Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating renin level	ORPHA:85138
Spinocerebellar Ataxia Type 18	Gait ataxia, Cerebellar atrophy, Hearing impairment, Dysmetria	ORPHA:98771
Xeroderma Pigmentosum, Complementation Group B	Ventriculomegaly, Cerebellar atrophy, Sensorineural hearing impairment, Microcephaly, Ataxia, Sho...	OMIM:610651
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Axonal degeneration, Paradoxical respiration	OMIM:620011
Hereditary Xanthinuria	Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, Increased urina...	ORPHA:3467
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Micrognathia, Short nose	ORPHA:1514
Pontocerebellar Hypoplasia, Type 2B	Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Cerebellar ...	OMIM:612389
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Pancreatitis, Choreoathetosis	ORPHA:79312
8P11.2 Deletion Syndrome	Azoospermia, Splenomegaly, Mitral valve prolapse, Spherocytosis, Atrial septal defect, High palat...	ORPHA:251066
Chondrodysplasia, Blomstrand Type	Preductal coarctation of the aorta, Stillbirth	OMIM:215045
Potocki-Lupski Syndrome	High palate, Atrial septal defect, Patent foramen ovale	OMIM:610883
Opitz Gbbb Syndrome	Hypospadias, Recurrent aspiration pneumonia, Abnormality of the urinary system, Aortic root aneur...	ORPHA:2745
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Cerebellar atrophy, Difficulty walking, Gait ataxia, Dysmetria, Cerebellar hypoplasia	ORPHA:529665
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Slc39A8-Cdg	Low-set ears, Cerebral cortical atrophy, Ventriculomegaly, Disproportionate short-limb short stat...	ORPHA:468699
X-Linked Parkinsonism-Spasticity Syndrome	Diffuse cerebral atrophy, Scissor gait, Dilated third ventricle, Lateral ventricle dilatation	ORPHA:363654
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Low-set ears, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Micrognathia, Protruding e...	OMIM:618443
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Underdeveloped nasal alae, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Hydrone...	ORPHA:2083
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Difficulty walking, Cerebellar atrophy, Cerebral atrophy, Ataxia	ORPHA:527497
Ataxia-Telangiectasia-Like Disorder 1	Cerebellar atrophy, Dysdiadochokinesis, Gait ataxia, Dysmetria, Ataxia, Unsteady gait, Choreoathe...	OMIM:604391
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Abnormal dentate nucleus morphology, Microcephaly, Partial agenesis of the corpus callosum, Later...	OMIM:619517
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
Spastic Paraplegia 20, Autosomal Recessive	Spastic gait, Cerebellar atrophy, Difficulty walking, Abnormal cerebellum morphology, Dysmetria, ...	OMIM:275900
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Hypospadias, Short nose	OMIM:300581
Dyssegmental Dysplasia, Silverman-Handmaker Type	Pulmonary hypoplasia, Abnormal heart morphology, Encephalocele, Hydrocephalus, Cleft palate, Misc...	ORPHA:1865
Acute Lung Injury	Pneumonia, Respiratory distress, Tachypnea, Dyspnea, Acute pancreatitis	ORPHA:178320
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Ventriculomegaly, Polysplenia, Exocrine pancreatic i...	OMIM:619418
Combined Oxidative Phosphorylation Deficiency 27	Cerebral cortical atrophy, Global brain atrophy, Cerebellar atrophy, Hearing impairment, Cerebral...	OMIM:616672
Beck-Fahrner Syndrome	Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Ventricular septal defect, Cardio...	OMIM:618798
Coach Syndrome 1	Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni...	OMIM:216360
Alagille Syndrome 1	Focal segmental glomerulosclerosis, Depressed nasal bridge, Renal hypoplasia, Peripheral pulmonar...	OMIM:118450
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Hydronephrosis, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale	OMIM:620327
Gaucher Disease	Aortic valve calcification, Cherry red spot of the macula, Pancytopenia, Cirrhosis, Hepatomegaly,...	ORPHA:355
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Spastic Ataxia 5, Autosomal Recessive	Cerebellar atrophy, Dysmetria, Spastic ataxia, Ataxia, Dysdiadochokinesis	OMIM:614487
Wolfram Syndrome, Mitochondrial Form	Hydronephrosis, Hydroureter	OMIM:598500
Familial Bicuspid Aortic Valve	Aortic valve stenosis, Aortic valve calcification, Hypoplastic left heart, Thoracic aorta calcifi...	ORPHA:402075
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Increased CSF protein concentration, ...	ORPHA:206436
Stankiewicz-Isidor Syndrome	Truncus arteriosus, Patent ductus arteriosus, Ventricular septal defect	OMIM:617516
Kniest Dysplasia	Rhizomelia, Conductive hearing impairment, Respiratory distress, Recurrent otitis media, Malar fl...	OMIM:156550
Coffin-Siris Syndrome 6	High, narrow palate, Atrial septal defect, Cleft palate	OMIM:617808
Poikiloderma With Neutropenia	Depressed nasal bridge, Recurrent pneumonia, Carious teeth, Retrognathia, Underdeveloped nasal al...	OMIM:604173
Junctional Epidermolysis Bullosa With Pyloric Atresia	Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Congenital pyloric atresia, Re...	ORPHA:79403
Cornelia De Lange Syndrome 1	Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesicoureteral reflux, Ventricu...	OMIM:122470
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Abnormal heart morphology, Submucous cleft hard palate, Ventricular septal defect, Patent foramen...	ORPHA:457279
Varicose Veins	Varicose veins	OMIM:192200
Chronic Granulomatous Disease	Inflammatory abnormality of the eye, Sinusitis, Eczematoid dermatitis, Otitis media	ORPHA:379
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Venous insufficiency, Generalized lymphadeno...	ORPHA:33276
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hypoproteinemia, Elevated circulating creatine kinase concentration	OMIM:615895
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Wide nasal bridge, Anal stenosis, Broad nasal tip, Aganglionic megacolon, Atrial septal defect, S...	OMIM:614207
Ferguson-Bonni Neurodevelopmental Syndrome	High palate, Coronary-pulmonary artery fistula, Patent foramen ovale	OMIM:619699
Basel-Vanagaite-Smirin-Yosef Syndrome	Recurrent pneumonia, Gastroesophageal reflux, Furrowed tongue, Ventricular septal defect, Hydrone...	OMIM:616449
Feingold Syndrome	Annular pancreas, Duodenal atresia, Abnormality of the spleen, Esophageal atresia, Patent ductus ...	ORPHA:1305
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Anteverted nares, Ventricular septal defect, Hypoplasia of teeth, Short nose	OMIM:234050
Kury-Isidor Syndrome	Hydronephrosis, High palate, Ventricular septal defect	OMIM:619762
Proteasome-Associated Autoinflammatory Syndrome 3	Skin rash, Myositis, Arthritis, Sinusitis, Conjunctivitis, Panniculitis	OMIM:617591
Achondroplasia	Rhizomelia, Neonatal short-limb short stature, Conductive hearing impairment, Respiratory distres...	OMIM:100800
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Ventriculomegaly, Abnormal cerebral vascular morphology, Arterial stenosis, Stroke, Vascular dila...	ORPHA:2637
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Hypoplastic left heart, Anteriorly placed anus, Tetralogy of Fallot, Patent foramen ovale, Ventri...	OMIM:618748
Mitochondrial Dna Depletion Syndrome 11	Dyspnea, Microcephaly, Cerebellar atrophy	OMIM:615084
Woods Syndrome	Ventricular septal defect	OMIM:615236
Short Stature-Micrognathia Syndrome	Rhizomelia, Cerebellar atrophy, Retrognathia, Intrauterine growth retardation, Micrognathia, Gait...	OMIM:617164
Whipple Disease	Mediastinal lymphadenopathy, Splenomegaly, Hepatomegaly, Anemia, Hydrocephalus, Myocarditis, Pleu...	ORPHA:3452
Fibrochondrogenesis 2	Anteverted nares, Micrognathia, Malar flattening, Short ribs, Short nose	OMIM:614524
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Lateral ventricle dilatation, Hyposegmentation of neutrophil nuclei, Atrial septal defect, Patent...	OMIM:620075
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Tachypnea, Dyspnea	OMIM:267450
Pelger-Huet Anomaly	Giant platelets, Median cleft palate, Ventricular septal defect, Hyposegmentation of neutrophil n...	OMIM:169400
Joubert Syndrome With Hepatic Defect	Low-set ears, Cerebellar vermis hypoplasia, Ataxia, Occipital encephalocele, Abnormal pattern of ...	ORPHA:1454
Visceral Myopathy 1	Microcolon, Intestinal pseudo-obstruction, Urinary retention, Megacystis, Megaduodenum, Vesicoure...	OMIM:155310
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect	ORPHA:93267
Fetal Valproate Spectrum Disorder	Depressed nasal ridge, Short nose	ORPHA:1906
Biotinidase Deficiency	Diffuse cerebellar atrophy, Apnea, Skin rash, Sensorineural hearing impairment, Diffuse cerebral ...	OMIM:253260
Ohdo Syndrome	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Micrognathia, Proteinuria, Hypoplasi...	OMIM:249620
Chromosome 14Q11-Q22 Deletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Mesomelia, Gastroesophageal reflux, Micrognathia, Rena...	OMIM:613457
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Dental malocclusion, Contractures of the large joints, Recurrent respiratory infections, Microgna...	ORPHA:329178
Spinocerebellar Ataxia 47	Low-set ears, Cerebellar vermis atrophy, Dysmetria, Ataxia, Short stature	OMIM:617931
Marfan Syndrome	High, narrow palate, Arterial dissection, Spontaneous pneumothorax, Pulmonary artery dilatation, ...	ORPHA:558
Adenylosuccinase Deficiency	Low-set ears, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Gait ataxia, Microcephaly,...	OMIM:103050
Autosomal Recessive Robinow Syndrome	Multicystic kidney dysplasia, Ankyloglossia, Micrognathia, Ventricular septal defect, Atrial sept...	ORPHA:1507
Tetraamelia Syndrome 1	Hydrocephalus, Asplenia, Anal atresia, Peripheral pulmonary vessel aplasia, Cleft palate, Pulmona...	OMIM:273395
Developmental And Epileptic Encephalopathy 18	Atrial septal defect	OMIM:615476
Fragile X Tremor/Ataxia Syndrome	Cerebellar atrophy, Hearing impairment, Gait ataxia, Dysmetria, Diffuse cerebral atrophy, Impaire...	OMIM:300623
Hypotonia-Cystinuria Syndrome	Hypocalcemia	OMIM:606407
Gjc2-Related Late-Onset Primary Lymphedema	Abnormal lymphatic vessel morphology, Varicose veins, Hypoplasia of lymphatic vessels, Venous ins...	ORPHA:568051
Thoracic Dysplasia-Hydrocephalus Syndrome	Short stature, Communicating hydrocephalus, Conductive hearing impairment, Ataxia	ORPHA:1861
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Cerebral atrophy, Dysmetria, Ataxia, Unsteady gait	OMIM:619405
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypercalcemia, Hypertriglyceridemia	ORPHA:369837
Mandibuloacral Dysplasia With Type B Lipodystrophy	Stage 5 chronic kidney disease, Micrognathia, Hypoplasia of teeth, Short clavicles, Narrow nasal ...	OMIM:608612
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Ventriculomegaly, High palate, Atrial septal defect, Ventricular septal defect	OMIM:617452
Shashi-Pena Syndrome	Ventriculomegaly, Dilation of Virchow-Robin spaces, Mild fetal ventriculomegaly, Atrial septal de...	OMIM:617190
Spinocerebellar Ataxia 15	Truncal ataxia, Gait ataxia, Limb ataxia, Cerebellar atrophy	OMIM:606658
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Eczematoid dermatitis, Atypical or prolonged hepatitis, Sinusitis, Chronic otitis medi...	ORPHA:83471
Neurodegeneration And Seizures Due To Copper Transport Defect	Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Respiratory distress, Increased CSF lacta...	OMIM:620306
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Short stature, Cerebellar atrophy, Sensorineural hearing impairment	ORPHA:3085
Colchicine Poisoning	Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con...	ORPHA:31824
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Extra-axial cerebrospinal fluid accumulation, Global brain atrophy, Hypopnea, Cerebellar atrophy,...	OMIM:618426
Tatton-Brown-Rahman Syndrome	Ventriculomegaly, Atrial septal defect, Ventricular septal defect	OMIM:615879
Tarp Syndrome	Horseshoe kidney, Tetralogy of Fallot, Hydronephrosis, Persistent left superior vena cava, Abnorm...	ORPHA:2886
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Bifid uvula, Ventriculomegaly, Absence of the pulmonary valve, Ventricular...	OMIM:601808
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Microcephaly, Cerebral cortical atrophy	OMIM:618201
Granulomatosis With Polyangiitis	Keratitis, Subglottic stenosis, Episcleritis, Sinusitis, Conjunctivitis, Chronic otitis media, Uv...	OMIM:608710
Meckel Syndrome, Type 5	Renal cyst	OMIM:611561
Axenfeld-Rieger Syndrome, Type 2	Abnormal heart morphology, Anal stenosis, Hydrocephalus	OMIM:601499
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Dandy-Walker malformation, Death in childhood, Death in infancy, Ventricular septal defect	OMIM:616901
Fibrous Dysplasia Of Bone	Hypophosphatemia, Hypercalcemia	ORPHA:249
Arthrogryposis, Distal, Type 2A	Wide nasal bridge, Joint contracture of the hand, Shoulder flexion contracture, Underdeveloped na...	OMIM:193700
Meckel Syndrome, Type 10	Micropenis, Renal cyst, Hypospadias	OMIM:614175
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Cerebral atrophy	OMIM:616521
Gillespie Syndrome	Cerebellar hypoplasia, Ventriculomegaly, Cerebellar atrophy, Ataxia	OMIM:206700
Braddock-Carey Syndrome 1	Anteriorly placed anus, Aortic valve prolapse, Ventricular septal defect, Thrombocytopenia, Cleft...	OMIM:619980
Werner Syndrome	Gastrointestinal carcinoma, Small hand, Skeletal muscle atrophy, Abnormal cerebral vascular morph...	ORPHA:902
Short Stature And Facioauriculothoracic Malformations	High palate, Cleft palate, Ventricular septal defect	OMIM:609654
Spinocerebellar Ataxia Type 10	Cerebellar atrophy, Gait imbalance, Gait ataxia, Dysmetria, Unsteady gait, Dysdiadochokinesis, Pr...	ORPHA:98761
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atelectasis, Cystic pattern on pulmonary HRCT, Ventricular septal defect, Atrial septal defect, R...	OMIM:610978
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Gait disturbance, Lateral ventricle dilatation, Cerebral atrophy	OMIM:221770
Femoral-Facial Syndrome	Abnormal localization of kidney, Long penis, Polycystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:1988
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventriculomegaly, Coronary artery fistula, Neonatal death, Ventricular septal defect, Atrial sept...	OMIM:620024
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic valv...	ORPHA:353281
Senior-Loken Syndrome 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis	OMIM:606995
Waardenburg Syndrome Type 3	Atrial septal defect, Atelectasis	ORPHA:896
Spastic Paraplegia 39, Autosomal Recessive	Gait disturbance, Cerebellar atrophy, Atrophy of the spinal cord, Ataxia	OMIM:612020
Bardet-Biedl Syndrome 1	High, narrow palate, Aganglionic megacolon, Left ventricular hypertrophy, Micropenis, High palate...	OMIM:209900
Hurler Syndrome	Cardiomyopathy, Hepatosplenomegaly, Endocardial fibroelastosis, Splenomegaly, Hepatomegaly, Hydro...	OMIM:607014
Waardenburg Syndrome Type 2	Aganglionic megacolon, Abnormality of the pulmonary artery	ORPHA:895
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Gait ataxia, Dysmetria, Steppage gait, Ataxia, Cerebellar gliosis	OMIM:616505
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis, High palate, Cleft palate	OMIM:602418
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Hepatosplenomegaly, Atrial septal defect, Macroglossia, High palate, Patent ductus arteriosus	ORPHA:397709
Loeys-Dietz Syndrome 4	High, narrow palate, Bifid uvula, Aortic root aneurysm, Aortic dissection, Broad uvula, Arterial ...	OMIM:614816
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Intrahepatic cholestasis, Hepatic fibrosis, Decreased liver function, Elevated circulating aspart...	OMIM:617093
Marfan Syndrome	Mitral annular calcification, Pulmonary artery dilatation, Aortic root aneurysm, Aortic dissectio...	OMIM:154700
Medulloblastoma	Cerebellar ataxia associated with quadrupedal gait, Dysmetria, Progressive macrocephaly, Cerebell...	ORPHA:616
Coccidioidomycosis	Pneumonia, Vasculitis, Increased CSF protein concentration, Hypoglycorrhachia, Exudative pleural ...	ORPHA:228123
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hydronephrosis	OMIM:617913
Fanconi Anemia	Arteriovenous malformation, Aplasia/Hypoplasia of the uvula, Atrial septal defect, High palate, A...	ORPHA:84
Lujan-Fryns Syndrome	High palate, Atrial septal defect	ORPHA:776
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Micrognathia	ORPHA:1143
3Q29 Microdeletion Syndrome	Gastroesophageal reflux, Horseshoe kidney, Prominent nasal bridge, Subvalvular aortic stenosis, H...	ORPHA:65286
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Tachypnea, Increased CSF glycine concentration, Ataxia	OMIM:614299
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Cerebellar atrophy, Dysmetria, Cerebellar hypoplasia, Ataxia, Dysdiadochokinesis	ORPHA:313772
Edinburgh Malformation Syndrome	Choanal atresia, Anteverted nares, Micrognathia, Short nose	ORPHA:1895
Diamond-Blackfan Anemia 12	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Ventricular septal defect, Ret...	OMIM:615550
Autosomal Recessive Omodysplasia	Mesomelia, Depressed nasal bridge, Rhizomelia, Micromelia, Anteverted nares, Micrognathia, Hypopl...	ORPHA:93329
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Atrial septal defect, Cleft palate, Ventricular septal defect	ORPHA:261190
Spinocerebellar Ataxia 4	Limb dysmetria, Cerebellar atrophy, Progressive cerebellar ataxia	OMIM:600223
Pleural Mesothelioma	Respiratory distress, Dyspnea	ORPHA:50251
Desbuquois Syndrome	Ventricular septal defect	ORPHA:1425
Toriello-Carey Syndrome	Anteriorly placed anus, Cardiomyopathy, Tetralogy of Fallot, Micrognathia, Aganglionic megacolon,...	ORPHA:3338
Congenital Myopathy 17	Hydronephrosis, Renal hypoplasia, Ureteropelvic junction obstruction	OMIM:618975
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Cerebellar atrophy, Microcephaly, Neuronal loss in central nervous system, Ataxia, Loss of abilit...	OMIM:300243
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hypospadias, Renal hypoplasia, Renal agenesis, Horseshoe kidney, Tetralogy of Fallot, Atrioventri...	ORPHA:508498
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy	Truncal ataxia, Limb ataxia, Cerebellar atrophy	OMIM:617560
Generalized Pustular Psoriasis	Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia	ORPHA:247353
Brain-Lung-Thyroid Syndrome	Recurrent pneumonia, Falls, Respiratory distress, Agenesis of corpus callosum, Sensorineural hear...	ORPHA:209905
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Increased CSF protein concentration, Cerebellar atrophy, Limb ataxia, Gait ataxia, Sensorineural ...	OMIM:258450
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Atrial septal defect, Frontal encephalocele	ORPHA:521308
Serkal Syndrome	Malrotation of small bowel, Pulmonary hypoplasia, Pulmonic stenosis, Ventricular septal defect	ORPHA:139466
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Superficial Siderosis	Ataxia, Increased CSF protein concentration, Cerebellar atrophy, Limb ataxia, Dysmetria, Progress...	ORPHA:247245
Jansen-De Vries Syndrome	Bicuspid aortic valve, Ventricular septal defect	OMIM:617450
Muenke Syndrome	Hydrocephalus, Macrocephaly, Malar flattening, Sensorineural hearing impairment	ORPHA:53271
Warburg Micro Syndrome 4	Cerebral cortical atrophy, Cerebellar atrophy, Secondary microcephaly, Inability to walk, Severe ...	OMIM:615663
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Lateral ventricle dilatation, Cerebral atrophy, Sensorineural hearing impairment, Microcephaly, P...	OMIM:619847
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy	ORPHA:53296
Developmental And Epileptic Encephalopathy 48	Microcephaly, Cerebellar atrophy, Cerebral atrophy	OMIM:617276
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Depressed nasal bridge, Hemiatrophy of upper limb, Oligosacchariduria, Anteverted nares, Microgna...	ORPHA:163649
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Gastroesophageal reflux, Horseshoe kidney, Acute hepatic failure, V...	ORPHA:2092
Combined Oxidative Phosphorylation Deficiency 39	Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Increased CSF lactate, Intrauterine growt...	OMIM:618397
Laryngotracheal Angioma	Respiratory distress, Apnea, Intercostal retractions	ORPHA:137935
Prader-Willi Syndrome Due To Translocation	Bifid uvula, Small hand, Broad nasal tip, Carious teeth, Retrognathia, Recurrent respiratory infe...	ORPHA:177907
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Recurrent pneumonia, Cholelithiasis, Male urethral meatus stenosis, Furrowed...	ORPHA:464738
Blomstrand Lethal Chondrodysplasia	Mesomelia, Depressed nasal bridge, Rhizomelia, Aplastic clavicle, Natal tooth, Distal shortening ...	ORPHA:50945
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	High, narrow palate, Hepatic failure, Ventriculomegaly, Cardiomyopathy, Hepatic steatosis, Cardio...	ORPHA:228308
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Tachypnea, Acute infectious pneumonia	ORPHA:264675
Combined Oxidative Phosphorylation Defect Type 29	Diffuse cerebellar atrophy, Increased CSF protein concentration, Global brain atrophy, Neurodegen...	ORPHA:478029
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron...	OMIM:613159
Rauch-Steindl Syndrome	Bilateral renal hypoplasia, Hyperechogenic kidneys	OMIM:619695
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebellar atrophy, Cerebral atrophy, Difficulty walking, Inability to walk, Intrauterine growth ...	OMIM:615356
3-Methylglutaconic Aciduria Type 7	Nephrocalcinosis, Cardiomyopathy, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst	ORPHA:445038
Jacobsen Syndrome	Depressed nasal bridge, Flexion contracture, Anteverted nares, Micrognathia, Ventricular septal d...	OMIM:147791
Spastic Paraplegia Type 7	Spastic gait, Cerebral cortical atrophy, Cerebellar atrophy	ORPHA:99013
Mucopolysaccharidosis, Type Vii	Recurrent upper respiratory tract infections, Cardiomyopathy, Abnormal heart valve morphology, Sp...	OMIM:253220
Kaufman Oculocerebrofacial Syndrome	Depressed nasal bridge, Carious teeth, Intestinal malrotation, Anteverted nares, Micrognathia, Ve...	OMIM:244450
Spinocerebellar Ataxia, Autosomal Recessive 7	Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Ataxia, Unsteady gait	OMIM:609270
Loeys-Dietz Syndrome 1	Hypoplasia of the musculature, Aortic root aneurysm, Micrognathia, Mitral valve prolapse, Eosinop...	OMIM:609192
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria, Short nose	ORPHA:833
Hec Syndrome	Communicating hydrocephalus, Endocardial fibroelastosis, Cardiomyopathy	ORPHA:2119
Sotos Syndrome	High, narrow palate, Narrow palate, Ventriculomegaly, Muscular ventricular septal defect, Ventric...	OMIM:117550
Pelizaeus-Merzbacher Disease	Broad-based gait, Global brain atrophy, Hearing impairment, Cerebellar vermis atrophy, Inability ...	OMIM:312080
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Ataxia, Vestibular arefl...	OMIM:614575
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Low-set ears, Carious teeth, Short stature	OMIM:617102
Koolen-De Vries Syndrome	Aortic root aneurysm, Recurrent urinary tract infections, Vesicoureteral reflux, Ventricular sept...	OMIM:610443
Chromosome 3Pter-P25 Deletion Syndrome	Atrioventricular canal defect	OMIM:613792
Mannosidosis, Alpha B, Lysosomal	Cerebral cortical atrophy, Mandibular prognathia, Cerebellar atrophy, Limb ataxia, Gait ataxia, M...	OMIM:248500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Respiratory distress, Loss of ambulation	OMIM:620375
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Ventriculomegaly, Apnea, Microcephaly, Gait disturbance, Atrophy of the spinal cord, Hydrocephalu...	ORPHA:395
Cutis Laxa, Autosomal Dominant 1	Peripheral pulmonary artery stenosis, Emphysema, Ventricular septal defect, Convex nasal ridge, B...	OMIM:123700
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Dyspnea, Microcephaly, Cerebellar atrophy	ORPHA:352447
Episodic Ataxia Type 6	Cerebellar atrophy, Ataxia	ORPHA:209967
Hydrolethalus Syndrome 1	Complete atrioventricular canal defect, Ventricular septal defect	OMIM:236680
B4Galt1-Cdg	Low-set ears, Inflammatory abnormality of the skin, Cerebellar hypoplasia, Hydrocephalus, Dandy-W...	ORPHA:79332
Avian Influenza	Pneumonia, Myelitis, Hepatitis, Pharyngitis, Respiratory distress, Infectious encephalitis, Tachy...	ORPHA:454836
Spinocerebellar Ataxia Type 13	Cerebellar atrophy, Hearing impairment, Difficulty walking, Limb ataxia, Gait ataxia, Short stature	ORPHA:98768
Mirage Syndrome	Aspiration pneumonia, Lymphopenia, Leukopenia, Hydrocephalus, Thrombocytopenia, Anemia, Intracran...	OMIM:617053
Alpha-Mannosidosis, Adult Form	Pneumonia, Cerebral cortical atrophy, Cerebellar atrophy, Ataxia, Mixed hearing impairment, Subco...	ORPHA:309288
Walker-Warburg Syndrome	Low-set ears, Ventriculomegaly, Agenesis of corpus callosum, Protruding ear, Microcephaly, Cerebe...	ORPHA:899
Marfanoid-Progeroid-Lipodystrophy Syndrome	High, narrow palate, Aortic root aneurysm, Mitral valve prolapse, Hydrocephalus, High palate, Lat...	OMIM:616914
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Abnormal aortic arch morphology, Spinal dysraphism, Hypertrophic cardiomyopathy, Hepatosplenomega...	ORPHA:96334
Leukodystrophy, Hypomyelinating, 11	Cerebellar atrophy, Ataxia	OMIM:616494
Raine Syndrome	Choanal atresia, Depressed nasal bridge, Mandibular prognathia, Hydroureter, Natal tooth, Microme...	OMIM:259775
Smith-Magenis Syndrome	Wide nasal bridge, Depressed nasal bridge, Gastroesophageal reflux, Abnormality of the ureter, An...	ORPHA:819
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Dyspnea, Bronchiectasis	ORPHA:411703
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Ventriculomegaly, High palate, Atrial septal defect, Ventricular septal defect	ORPHA:505237
Congenital Myopathy 22B, Severe Fetal	Wide nasal bridge, Generalized amyotrophy, Hypoplasia of the musculature, Shoulder flexion contra...	OMIM:620369
Noonan Syndrome 3	Hypoplastic nasal bridge, Hypertrophic cardiomyopathy, Anteverted nares, Mitral valve prolapse, V...	OMIM:609942
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxyisobutyric acid level, Depressed nasal bridge, Elevated urinary aminois...	OMIM:614105
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Ureteral triplication, Mitral valve prolapse, Hydronephrosis, High palate, Patent ductus arteriosus	OMIM:104350
Staphylococcal Necrotizing Pneumonia	Pneumonia, Pharyngitis, Respiratory distress, Tachypnea, Acute infectious pneumonia, Dyspnea	ORPHA:36238
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Pharyngeal edema, Laryngeal edema	ORPHA:100057
X-Linked Intellectual Disability, Wilson Type	Microcephaly, Mandibular prognathia, Growth delay, Lateral ventricle dilatation	ORPHA:85290
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Depressed nasal bridge, Mandibular prognathia, Gastroesophageal reflux, Anteverted nares, Protrud...	OMIM:301040
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Ataxia, Cerebellar atrophy, Dysmetria, Sensorineural hearing impairment	OMIM:612674
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:2182
Familial Adenomatous Polyposis 4	Renal cyst, Ovarian cyst	OMIM:617100
Gm1 Gangliosidosis	Cardiomyopathy, Aspiration pneumonia, Abnormal heart morphology, Cherry red spot of the macula, H...	ORPHA:354
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypophosphatemia, Hypocalcemia	OMIM:600081
Von Willebrand Disease	Microcytic anemia, Gastrointestinal angiodysplasia, Abnormal mitral valve morphology, Venous insu...	ORPHA:903
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Wide nasal bridge, Bulbous nose, Gastroesophageal reflux, Short nose	OMIM:620292
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Broad-based gait, Respiratory distress, Microcephaly, Ataxia, Incisor macrodontia, Abnormal pinna...	ORPHA:438216
Van Maldergem Syndrome 1	Renal hypoplasia, Hypospadias	OMIM:601390
Meester-Loeys Syndrome	Bifid uvula, Pulmonary artery aneurysm, Aortic root aneurysm, Aortic dissection, Dilatation of th...	OMIM:300989
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Hypoplastic left heart, Bicuspid aortic valve, Atrial septal defect	OMIM:619721
Ileal Neuroendocrine Tumor	Hepatic failure, Elevated circulating hepatic transaminase concentration, Tricuspid stenosis, Int...	ORPHA:100078
Leukocyte Adhesion Deficiency	Pneumonia, Cerebral atrophy, Vaginitis, Osteomyelitis, Recurrent aphthous stomatitis, Intrauterin...	ORPHA:2968
Ulnar-Mammary Syndrome	Renal hypoplasia, Hypoplasia of penis, Ventricular septal defect	ORPHA:3138
Developmental And Epileptic Encephalopathy 51	Cerebral cortical atrophy, Cerebellar atrophy, Increased CSF lactate, Inability to walk, Corpus c...	OMIM:617339
19P13.12 Microdeletion Syndrome	Ventriculomegaly, Hepatic steatosis, Ventricular septal defect, Atrial septal defect, Cleft palate	ORPHA:254346
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Diffuse cerebellar atrophy, Retrognathia, Cerebral atrophy, Micrognathia, Dystonic gait, Progress...	ORPHA:480898
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Depressed nasal bridge, Hypospadias, Short nose	OMIM:616910
Intellectual Disability, Buenos-Aires Type	Hydronephrosis, High palate, Abnormal cardiac septum morphology	ORPHA:3079
Hypohidrotic Ectodermal Dysplasia	Hypoplasia of the maxilla, Eczematoid dermatitis, Keratoconjunctivitis sicca, Sinusitis, Inflamma...	ORPHA:238468
Cole-Carpenter Syndrome 2	Dentinogenesis imperfecta, Microretrognathia, Postnatal growth retardation, Hydrocephalus, Macroc...	OMIM:616294
Pfeiffer Syndrome Type 3	Low-set ears, Chiari malformation, Hearing impairment, Respiratory distress, Aqueductal stenosis,...	ORPHA:93260
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Microcephaly, Ataxia	ORPHA:927
Netherton Syndrome	Aminoaciduria, Emphysema, Hydronephrosis, Recurrent respiratory infections, Ectopic kidney	ORPHA:634
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia	OMIM:618183
Kapur-Toriello Syndrome	Intestinal malrotation, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus...	OMIM:244300
Immunodeficiency 61	Recurrent otitis media, Recurrent sinusitis	OMIM:300310
Coffin-Siris Syndrome 7	Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect	OMIM:618027
Familial Paroxysmal Ataxia	Tinnitus, Cerebellar vermis atrophy, Ataxia	ORPHA:97
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Blepharitis, Keratitis, Eczematoid dermatitis, Otitis media,...	ORPHA:906
Halperin-Birk Syndrome	Ventriculomegaly, Semilobar holoprosencephaly, Hearing impairment, Inability to walk, Intrauterin...	OMIM:618651
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Gait disturbance, Hydrocephalus	ORPHA:2181
Trisomy 12P	Wide nasal bridge, Micrognathia, Malar flattening, Short nose, Anal atresia, Cleft palate	ORPHA:1699
Carey-Fineman-Ziter Syndrome	Aplasia of the pectoralis major muscle, Skeletal muscle atrophy, Aplasia/Hypoplasia of the tongue...	ORPHA:1358
Diamond-Blackfan Anemia 5	Leukopenia, Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia	OMIM:612528
Macrocephaly/Autism Syndrome	Depressed nasal bridge, Dilation of Virchow-Robin spaces, Penile freckling, Splenomegaly, Hepatom...	OMIM:605309
Galloway-Mowat Syndrome 10	Cerebellar atrophy, Cerebral atrophy, Secondary microcephaly, Microcephaly, Primary microcephaly	OMIM:619609
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Cerebellar atrophy, Secondary microcephaly, Apnea, Abnormal cerebellum morphology, Gait ataxia, D...	OMIM:618056
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:241410
Paganini-Miozzo Syndrome	Low-set ears, Mandibular prognathia, Lateral ventricle dilatation, Malar flattening, Posteriorly ...	OMIM:301025
Absent Eyebrows And Eyelashes With Impaired Intellectual Development	Convex nasal ridge, Short nose	OMIM:200130
Zygomycosis	Nephritis, Hepatitis, Fasciitis, Infectious encephalitis, Pustule, Peritonitis, Enterocolitis, Pa...	ORPHA:73263
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Depressed nasal bridge, Malar flattening, Hypoplasia of the zygomatic bone, Short nose	ORPHA:2835
Jacobsen Syndrome	Aortic valve stenosis, Hypoplastic left heart, Multicystic kidney dysplasia, Wide nasal bridge, B...	ORPHA:2308
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	High, narrow palate, Peripheral pulmonary artery stenosis, Dilated third ventricle, Lateral ventr...	OMIM:619575
Autosomal Dominant Optic Atrophy, Classic Form	Cerebellar atrophy, Sensorineural hearing impairment, Gait disturbance, Corpus callosum atrophy, ...	ORPHA:98673
47,Xyy Syndrome	Low-set ears, Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Malar flattening, Hydroc...	ORPHA:8
Holoprosencephaly	Spinal dysraphism, Tetralogy of Fallot, Abnormality of the spleen, Abnormal pulmonary valve morph...	ORPHA:2162
Adult-Onset Cervical Dystonia, Dyt23 Type	Cerebral cortical atrophy, Cerebellar atrophy, Difficulty walking, Hyperventilation, Unsteady gait	ORPHA:420492
Alzahrani-Kuwahara Syndrome	Coronary sinus enlargement, Bulbous nose, Prominent nose, Micrognathia, Patent foramen ovale, Ven...	OMIM:619268
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Short distal phalanx of finger, Short nasal septum, Short nose	OMIM:302950
Hydrolethalus	Low-set ears, Retrognathia, Low-set, posteriorly rotated ears, Micrognathia, Agenesis of corpus c...	ORPHA:2189
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Low-set ears, Microcephaly, Cerebellar atrophy, Cerebral atrophy	OMIM:619286
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Abnormal cerebral vascular morphology, Venous insufficiency	ORPHA:743
Intellectual Developmental Disorder, Autosomal Dominant 65	Low-set ears, Ataxia, Micrognathia, Agenesis of corpus callosum, Noncommunicating hydrocephalus, ...	OMIM:619320
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Gait disturbance	OMIM:236690
Dermotrichic Syndrome	Aminoaciduria, Aganglionic megacolon, Depressed nasal bridge, Short nose	ORPHA:99688
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	ORPHA:2519
Erdheim-Chester Disease	Abnormal pericardium morphology, Renal insufficiency, Pleural effusion, Abnormal aortic valve mor...	ORPHA:35687
Van Maldergem Syndrome 2	Micropenis, Renal hypoplasia, Hypospadias	OMIM:615546
Bilateral Polymicrogyria	Low-set ears, Ventriculomegaly, Cerebellar atrophy, Micrognathia, Sensorineural hearing impairmen...	ORPHA:268940
Immunodeficiency 49	Pulmonary artery stenosis, Micrognathia, Natal tooth	OMIM:617237
Nasu-Hakola Disease	Cerebral cortical atrophy, Ventriculomegaly, Hydrocephalus	ORPHA:2770
Mevalonic Aciduria	Low-set ears, Cerebellar atrophy, Cerebral atrophy, Morbilliform rash, Skin rash, Microcephaly, A...	OMIM:610377
Genitopatellar Syndrome	Multicystic kidney dysplasia, Gastroesophageal reflux, Hydronephrosis, Atrial septal defect, Pulm...	ORPHA:85201
King-Denborough Syndrome	High palate, Ventricular septal defect	OMIM:619542
Tay-Sachs Disease	Ventriculomegaly, Global brain atrophy, Cerebellar atrophy, Hearing impairment, Aspiration pneumo...	ORPHA:845
Lymphatic Malformation 6	Chylothorax, Intestinal lymphangiectasia, Pleural effusion, Splenomegaly, Atrial septal defect, V...	OMIM:616843
Congenital Enterovirus Infection	Ventriculomegaly, Hepatitis, Respiratory distress, Skin rash, Infectious encephalitis, CSF lympho...	ORPHA:292
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Ventriculomegaly, Dilated third ventricle, Hearing impairment, Microcephaly, Gait disturbance, Hy...	ORPHA:500055
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Char Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:46627
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Leukopenia, Splenomegaly, Encephalocele, Lymphadenopathy,...	ORPHA:381
Microgastria-Limb Reduction Defect Syndrome	Microgastria, Abnormal lung lobation, Intestinal malrotation, Abnormality of the spleen, Esophagi...	ORPHA:2538
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Protruding ear, Microcephaly, Ataxia, Gro...	OMIM:615471
Orofaciodigital Syndrome V	Bifid uvula, Tetralogy of Fallot, Ankyloglossia, Hamartoma of tongue, Ventricular septal defect, ...	OMIM:174300
Beare-Stevenson Cutis Gyrata Syndrome	Ventriculomegaly, Natal tooth, Atresia of the external auditory canal, Chiari malformation, Respi...	OMIM:123790
Giant Axonal Neuropathy 1, Autosomal Recessive	Steppage gait, Abnormal cerebellum morphology, Lateral ventricle dilatation, Macrocephaly	OMIM:256850
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Cerebellar vermis atrophy, Gait ataxia, Progressive cerebellar ataxia	ORPHA:466794
L1 Syndrome	Aqueductal stenosis, Gait disturbance, Hydrocephalus	ORPHA:275543
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Small hand, Dental malocclusion, Prominent nasal bridge, Micrognathia, Ventricular septal defect,...	ORPHA:251028
Jaberi-Elahi Syndrome	Low-set ears, Broad-based gait, Cerebellar vermis atrophy, Inability to walk, Gait ataxia, Dysmet...	OMIM:617988
Diamond-Blackfan Anemia 10	Low-set ears, Conductive hearing impairment, Atresia of the external auditory canal, Hearing impa...	OMIM:613309
Oculodentodigital Dysplasia	Carious teeth, Underdeveloped nasal alae, Narrow nose, Narrow nasal bridge, Anteverted nares, Joi...	OMIM:164200
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig...	ORPHA:439
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation	OMIM:300982
Melnick-Needles Syndrome	Hydronephrosis, Recurrent respiratory infections, Vesicoureteral reflux, Abnormal cardiac septum ...	ORPHA:2484
Cardiospondylocarpofacial Syndrome	Muscular ventricular septal defect, Patent foramen ovale, Dysplastic tricuspid valve, Ventricular...	OMIM:157800
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Ascending tubular aorta aneurysm, High palate, Atrial septal defect, Ventricular septal defect	OMIM:309520
Marshall-Smith Syndrome	Hypoplasia of the odontoid process, Aspiration pneumonia, Ventricular septal defect, Prominence o...	OMIM:602535
Immunodeficiency, Common Variable, 4	Recurrent pneumonia, Recurrent sinusitis	OMIM:613494
Restrictive Dermopathy 2	Respiratory distress, Hypoplastic facial bones, Intrauterine growth retardation, Microretrognathia	OMIM:619793
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Bifid uvula, Renal dysplasia, Recurrent respiratory infections, Hydronephrosis, Atrial septal def...	OMIM:300968
Noonan Syndrome 4	Hypertrophic cardiomyopathy, Ventricular septal defect, Hydronephrosis, Atrial septal defect, Ure...	OMIM:610733
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypoplastic spleen, Abnormal heart mo...	ORPHA:699
Mycophenolate Mofetil Embryopathy	Coarctation of aorta, Tracheoesophageal fistula, Hydrocephalus, Ventricular septal defect	ORPHA:268249
Acrofacial Dysostosis, Cincinnati Type	Biventricular hypertrophy, Micrognathia, Ventricular septal defect, Bicuspid aortic valve, High p...	OMIM:616462
Peho Syndrome	Progressive microcephaly, Cerebellar atrophy, Retrognathia, Neuronal loss in central nervous system	OMIM:260565
Tetrasomy 12P	Delayed eruption of teeth, Anteverted nares, Abnormal soft palate morphology, Anal atresia, Short...	ORPHA:884
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Low-set ears, Cerebral cortical atrophy, Mandibular prognathia, Ventriculomegaly, Cerebellar atro...	OMIM:617011
Pancreatic Agenesis 2	Exocrine pancreatic insufficiency, Steatorrhea, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:615935
Premature Aging Syndrome, Penttinen Type	Short distal phalanx of finger, Hypoplasia of the maxilla, Delayed eruption of teeth, Retrognathi...	OMIM:601812
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Bicuspid aortic valve, Ventriculomegaly, Dilation of Virchow-Robin spaces, Atrial septal defect	OMIM:619720
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Spontaneous pneumothorax, Bifid uvula, Vertebral artery aneurysm, Broad ...	OMIM:619656
Meconium Aspiration Syndrome	Respiratory distress, Intrauterine growth retardation, Aspiration pneumonia	ORPHA:70588
Trichohepatoenteric Syndrome 1	Hepatic fibrosis, Hepatic failure, Bifid uvula, Tetralogy of Fallot, Cholestasis, Villous atrophy...	OMIM:222470
Acrodysostosis	Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Hypoplasia of the maxilla, Shor...	ORPHA:950
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Arterial dissection, High, narrow palate, Recurrent pneumonia, Aortic dissection, Abnormal venous...	ORPHA:1900
Metatropic Dysplasia	Low-set, posteriorly rotated ears, Hydrocephalus, Severe short stature	ORPHA:2635
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Hydronephrosis, Vesicoureteral reflux, Cleft palate	OMIM:618265
Shwachman-Diamond Syndrome	Pneumonia, Carious teeth, Eczematoid dermatitis, Hearing impairment, Delayed eruption of teeth, O...	ORPHA:811
ERI1-related disease	Velopharyngeal insufficiency, Abnormal heart morphology, Vesicoureteral reflux, Ventricular septa...	OMIM:608739
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Hearing impairment, Delayed erup...	OMIM:301072
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Cerebellar atrophy, Retrognathia, Cerebral atrophy, Secondary microcephaly, Micrognathia, Corpus ...	OMIM:616875
Spinocerebellar Ataxia 32	Cerebellar atrophy, Ataxia	OMIM:613909
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Abnormal heart morphology, Patent foramen ovale, Abnormal subclavian arter...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Abnormal heart morphology, Patent foramen ovale, Abnormal subclavian arter...	ORPHA:353277
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Renal cyst, Multicystic kidney dysplasia	ORPHA:2031
Intellectual Developmental Disorder, Autosomal Dominant 1	Depressed nasal ridge, Gastroesophageal reflux, Retrognathia, Bulbous nose, Prominent nose, Short...	OMIM:156200
Bannayan-Riley-Ruvalcaba Syndrome	Abnormal large intestine morphology, Arteriovenous malformation, Skeletal muscle atrophy, Antever...	ORPHA:109
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Ataxia, Dilated third ventricle, Cerebellar atrophy, Cerebral atrophy, Sensorineural hearing impa...	ORPHA:314404
Developmental And Epileptic Encephalopathy 95	Cerebral cortical atrophy, Cerebellar atrophy, Hypoplasia of the pons, Hearing impairment, Cerebr...	OMIM:618143
Spastic Ataxia, Charlevoix-Saguenay Type	Loss of Purkinje cells in the cerebellar vermis, Falls, Cerebellar vermis atrophy, Progressive tr...	OMIM:270550
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Wide nasal bridge, Gastroesophageal reflux, Retrognathia, Micrognathia, Narrow palate, Hypoplasia...	OMIM:620250
Oculocerebrofacial Syndrome, Kaufman Type	Retrognathia, Respiratory distress, Micrognathia, Microcephaly, Dyspnea, Growth delay	ORPHA:2707
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia	OMIM:264700
Hemangioblastoma	Hydrocephalus, Cerebellar edema, Cerebellar hemangioblastoma	ORPHA:252054
Immunodeficiency 20	Recurrent otitis media, Recurrent viral upper respiratory tract infections, Recurrent sinusitis	OMIM:615707
Constricting Bands, Congenital	Cleft palate, Encephalocele, Ectopia cordis, Abnormal lung lobation	OMIM:217100
Foxg1 Syndrome Due To 14Q12 Microdeletion	Depressed nasal bridge, Gastroesophageal reflux, Bulbous nose, Macroglossia, Mandibular prognathi...	ORPHA:261144
Leukodystrophy, Hypomyelinating, 10	Skeletal muscle atrophy, Bulbous nose, Anteverted nares, Malar flattening, Short nose	OMIM:616420
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Esophageal atresia, Atrial septal defect	OMIM:614526
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress	ORPHA:254864
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Ventricular septal defect, Hydronephrosis, Gastrointestinal dysmotility, ...	OMIM:617798
Spinocerebellar Ataxia Type 32	Cerebellar atrophy, Progressive cerebellar ataxia	ORPHA:276183
Neonatal Inflammatory Skin And Bowel Disease	Left ventricular hypertrophy, Perianal dermatitis, Recurrent gastroenteritis, Anal fissure	ORPHA:294023
Smith-Lemli-Opitz Syndrome	Hepatic steatosis, Ventricular septal defect, Cirrhosis, Atrial septal defect, Duplicated collect...	OMIM:270400
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	High palate, Patent ductus arteriosus, Cleft palate, Ventricular septal defect	ORPHA:52055
Alg2-Cdg	Microcephaly, Lateral ventricle dilatation	ORPHA:79326
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Patent foramen ovale	OMIM:618832
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Dilated third ventricle, Hypoplasia of the pons, Lateral ventricle dilatation, ...	OMIM:613154
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Hypoplasia of the maxilla, Cerebellar atrophy, Hearing impairment, Micrognathia, Enterocolitis	OMIM:301108
Phakomatosis Pigmentokeratotica	Unilateral renal hypoplasia, Renal transitional cell carcinoma, Nephroblastoma	ORPHA:2874
Cutis Laxa, Autosomal Recessive, Type Iib	Intrauterine growth retardation, Malar flattening, Agenesis of corpus callosum, Protruding ear, M...	OMIM:612940
Adams-Oliver Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Ventriculomegaly, Tetralogy of Fallot, Encephaloce...	OMIM:100300
Bainbridge-Ropers Syndrome	Wide nasal bridge, Depressed nasal bridge, Gastroesophageal reflux, Broad nasal tip, Retrognathia...	OMIM:615485
Fryns Syndrome	Ectopic pancreatic tissue, Meckel diverticulum, Renal agenesis, Chylothorax, Polysplenia, Intesti...	OMIM:229850
16P11.2P12.2 Microdeletion Syndrome	Gastroesophageal reflux, Microretrognathia, Camptodactyly of finger, Bulbous nose, Anteverted nar...	ORPHA:261211
Rere-Related Neurodevelopmental Syndrome	Abnormal heart morphology, Ventriculomegaly, Ventricular septal defect	ORPHA:494344
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Spinocerebellar Ataxia Type 8	Cerebellar atrophy, Hypoplasia of the pons, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, ...	ORPHA:98760
Spondyloepiphyseal Dysplasia Congenita	Cervical myelopathy, Hearing impairment, Respiratory distress, Malar flattening, Neonatal short-t...	OMIM:183900
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Bifid uvula, Recurrent pneumonia, Ventricular septal defect, High palate, Recurrent aspiration pn...	OMIM:300472
Oculodentodigital Dysplasia	Mandibular prognathia, Carious teeth, Abnormality of the nose, Underdeveloped nasal alae, Broad c...	ORPHA:2710
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Cockayne Syndrome Type 1	Increased blood urea nitrogen	ORPHA:90321
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Renal cyst, Renal hypoplasia	OMIM:616300
Leukodystrophy, Hypomyelinating, 20	Progressive microcephaly, Cerebellar atrophy	OMIM:619071
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Anisocytosis, Ventricular septal defect, Atrial septal ...	OMIM:258900
Congenital Disorder Of Glycosylation, Type Ig	Recurrent pneumonia, Rhizomelia, Recurrent upper respiratory tract infections, Respiratory distre...	OMIM:607143
Congenital Disorder Of Glycosylation, Type Ib	Renal cyst, Proximal tubulopathy	OMIM:602579
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Orofaciodigital Syndrome I	Hepatic fibrosis, Abnormal heart morphology, Ankyloglossia, Hamartoma of tongue, Myelomeningocele...	OMIM:311200
Mosaic Variegated Aneuploidy Syndrome	Ventriculomegaly, Abnormal lung lobation, Stomach cancer, Intestinal polyposis, Abnormal aortic m...	ORPHA:1052
16P13.11 Microdeletion Syndrome	Depressed nasal bridge, Gastroesophageal reflux, Camptodactyly of finger, Anteverted nares, Ventr...	ORPHA:261236
Trisomy 10P	Depressed nasal bridge, Gastroesophageal reflux, Abnormality of the nose, Decreased muscle mass, ...	ORPHA:171929
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Cerebral atrophy	ORPHA:329284
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventriculomegaly, Chiari malformation, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Macro...	ORPHA:60040
Machado-Joseph Disease	Cerebellar atrophy, Dilated fourth ventricle, Limb ataxia, Ataxia, Truncal ataxia, Progressive ce...	OMIM:109150
Cockayne Syndrome Type 3	Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Cardiomyopathy, Rena...	ORPHA:90324
Granulomatosis With Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Ureteral stenosis, Recurrent intrapulmonary hemorrhage, ...	ORPHA:900
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Low-set ears, Rhizomelia, Neonatal short-limb short stature, Stillbirth, Respiratory distress, Ma...	OMIM:151210
Spinocerebellar Ataxia, Autosomal Recessive 21	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia	OMIM:616719
Fructose-1,6-Bisphosphatase Deficiency	Ventriculomegaly, Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic...	ORPHA:348
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation, Choreoathetosis, Macrocephaly	OMIM:231670
Congenital Syphilis	Pneumonia, Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundice, Anemia,...	ORPHA:499009
Autosomal Recessive Spastic Paraplegia Type 78	Cerebral cortical atrophy, Cerebellar atrophy, Difficulty walking, Progressive gait ataxia, Progr...	ORPHA:513436
Immunodeficiency 87 And Autoimmunity	Biventricular hypertrophy, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, ...	OMIM:619573
15Q Overgrowth Syndrome	Low-set ears, Mandibular prognathia, Microretrognathia, Retrognathia, Low-set, posteriorly rotate...	ORPHA:314585
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Annular pancreas, Abnormal heart morphology, Pancytopenia, Anemia, R...	OMIM:227646
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Global brain atrophy, Growth delay, Cerebellar atrophy	OMIM:619738
Presynaptic Congenital Myasthenic Syndromes	Low-set ears, Microretrognathia, Tip-toe gait, Difficulty walking, Narrow jaw, Sensorineural hear...	ORPHA:98914
Congenital Myasthenic Syndrome	Low-set ears, Microretrognathia, Tip-toe gait, Difficulty walking, Narrow jaw, Sensorineural hear...	ORPHA:590
Tropical Pancreatitis	Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A...	ORPHA:103918
Episodic Ataxia, Type 2	Tinnitus, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Episodic ataxia	OMIM:108500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Chronic mucocutaneous candi...	OMIM:102700
Slc35A1-Cdg	Respiratory distress, Pneumonia	ORPHA:238459
Shukla-Vernon Syndrome	Broad-based gait, Cerebellar atrophy	OMIM:301029
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Microcephaly, Lateral ventricle dilatation	OMIM:618890
Gillessen-Kaesbach-Nishimura Syndrome	Abnormal heart morphology, Polycystic kidney dysplasia	OMIM:263210
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Osteogenesis Imperfecta, Type Vii	Dentinogenesis imperfecta, Rhizomelia, Micromelia, Absent pulmonary artery, Hydronephrosis, Hypop...	OMIM:610682
Epidermolysis Bullosa Simplex With Pyloric Atresia	Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde...	ORPHA:158684
Femoral-Facial Syndrome	Micrognathia, Ventricular septal defect, Bilobed right lung, Aplasia/hypoplasia of the femur, Pol...	OMIM:134780
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Ovarian neoplasm, Arteriovenous malformation, Lymphangioma, Venous insufficiency	ORPHA:137608
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Agenesis of corpus callosum, Simple ear, Sensorineural hearing impairment, ...	OMIM:618733
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hearing impairment, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Ataxia, Short stature	ORPHA:2720
Robinow Syndrome, Autosomal Dominant 2	Mesomelia, Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Anteverte...	OMIM:616331
Xanthinuria, Type I	Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria	OMIM:278300
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Bulbous nose, Prominent nasal bridge, Vesicoureteral reflux, Short nose	OMIM:618828
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Low-set ears, Ventriculomegaly, Microretrognathia, Hypoplasia of the zygomatic bone, Microcephaly...	OMIM:613603
Pontocerebellar Hypoplasia, Type 8	Patent foramen ovale, Ventricular septal defect	OMIM:614961
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Severe short stature, Ventriculomegaly, Microretrognathia, Cerebellar atrophy, Eczematoid dermati...	ORPHA:468631
Chédiak-Higashi Syndrome	Hyponatremia, Hypoproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia	ORPHA:167
Proteus-Like Syndrome	Thymus hyperplasia, Bronchogenic cyst, Splenomegaly, Venous insufficiency, Hydrocephalus, Communi...	ORPHA:2969
Alg1-Cdg	Progressive microcephaly, Cerebellar atrophy, Cerebral atrophy	ORPHA:79327
Non-Distal Duplication 13Q	High palate, Micrognathia, Short nose	ORPHA:1702
Developmental And Epileptic Encephalopathy 49	Cerebellar vermis hypoplasia, Ventriculomegaly, Macrotia, Dysplastic corpus callosum, Microcephal...	OMIM:617281
Neurocardiofaciodigital Syndrome	Lateral ventricle dilatation, Tetralogy of Fallot, Dilated fourth ventricle, Atrial septal defect...	OMIM:619869
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Emphysema, Aortic atheroscl...	ORPHA:363618
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Short nose	OMIM:300143
Acrocephalopolydactylous Dysplasia	Micromelia, Hypoplastic colon, Short nose, Hepatomegaly, Hypoplasia of the small intestine, Extra...	OMIM:200995
Autoimmune Polyendocrinopathy Type 4	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Biliary cirrhosi...	ORPHA:227990
Takenouchi-Kosaki Syndrome	Low-set ears, Cerebral cortical atrophy, Ventriculomegaly, Dental malocclusion, Cerebellar atroph...	OMIM:616737
Peroxisome Biogenesis Disorder 4A (Zellweger)	Renal cyst	OMIM:614862
Opsismodysplasia	Depressed nasal bridge, Splenomegaly, Hypoplastic vertebral bodies, Hepatomegaly, Recurrent respi...	ORPHA:2746
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Hydrocephalus, Cleft palate, Abnormal mast cell morphology	ORPHA:398189
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Mandibular prognathia, Gastroesophageal reflux, Microretrognathia, Short finger, Dilatation of th...	ORPHA:459070
Chromosome 9P Deletion Syndrome	High, narrow palate, Narrow palate, Ventricular septal defect, Perimembranous ventricular septal ...	OMIM:158170
Kabuki Syndrome 2	Atrioventricular canal defect, Coarctation of aorta, Atrial septal defect, High palate, Cleft pal...	OMIM:300867
Developmental And Epileptic Encephalopathy 31B	Low-set ears, Ventriculomegaly, Secondary microcephaly, Agenesis of corpus callosum, Colpocephaly...	OMIM:620352
Hyperparathyroidism-Jaw Tumor Syndrome	Hypophosphatemia, Hypercalcemia	ORPHA:99880
Mowat-Wilson Syndrome	Wide nasal bridge, Abnormal enteric ganglion morphology, Delayed eruption of teeth, Generalized m...	OMIM:235730
Liver Disease, Severe Congenital	Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ...	OMIM:619991
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Depressed nasal bridge, Dentinogenesis imperfecta, Carious teeth, Aortic root aneurysm, Atelectas...	ORPHA:536467
Pfeiffer Syndrome	Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Shortening of all middle phal...	OMIM:101600
Dural Sinus Malformation	Myelopathy, Subdural hemorrhage, Abnormal facial vein morphology, Stroke, Subarachnoid hemorrhage...	ORPHA:97339
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Low-set ears, Ventriculomegaly, Retrognathia, Encephalocele, Cerebellar hypoplasia, Hydrocephalus...	OMIM:614643
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Esophageal carcinoma, Recurrent upper respiratory tract infections, Hepatitis, Medial calcificati...	ORPHA:391487
Nephronophthisis 11	Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal...	OMIM:613550
Thyroid Lymphoma	Respiratory distress, Dyspnea, Hashimoto thyroiditis	ORPHA:97285
Noonan Syndrome 7	Hypertrophic cardiomyopathy, Abnormal esophagus morphology, Atrial septal defect, Pulmonic stenosis	OMIM:613706
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Increased CSF lactate, Sensorineural hearing impairment, Exertional dyspnea...	OMIM:220110
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Aplasia/Hypoplasia of the earlobes, Hypoplasia of the zygomatic bone, Respiratory distress, Malar...	ORPHA:1555
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Abnormal heart morphology, Ventricular septal defect	ORPHA:254534
Lymphedema-Distichiasis Syndrome	Chylothorax, Tetralogy of Fallot, Ventricular septal defect, Varicose veins, Patent ductus arteri...	OMIM:153400
Pterygium Colli, Isolated	Short nose	OMIM:177990
Marshall Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Hypoplasia of the zygomatic...	ORPHA:560
Atresia Of Urethra	Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency...	ORPHA:105
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Venous malformation, Varicose veins	OMIM:613089
Cardiomyopathy, Dilated, 1Y	Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Ebstein anomaly of the tri...	OMIM:611878
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Hearing impairment, Cerebellar hypoplasia, Hydrocephalus, Abnormal cerebellar v...	ORPHA:1647
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal dental pulp morphology, Lower limb dysmetria, Abnormality of the sphenoid sinus, Microgn...	ORPHA:363700
Spinocerebellar Ataxia 21	Cerebellar atrophy, Akinesia, Limb ataxia, Gait ataxia, Ataxia, Progressive cerebellar ataxia	OMIM:607454
Pelvis-Shoulder Dysplasia	Hydranencephaly, Micrognathia, Mesomelic/rhizomelic limb shortening, Neonatal short-trunk short s...	ORPHA:2839
Noonan Syndrome 5	Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis	OMIM:611553
Cutis Laxa, Autosomal Recessive, Type Ia	Peripheral pulmonary artery stenosis, Vascular tortuosity, Emphysema, Congenital diaphragmatic he...	OMIM:219100
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Low-set ears, Cerebellar vermis hypoplasia, Cerebellar atrophy, Cerebral atrophy, Malar flattenin...	OMIM:618590
Mucopolysaccharidosis Type 2	Recurrent upper respiratory tract infections, Cardiomyopathy, Abnormal heart morphology, Abnormal...	ORPHA:580
Congenital Disorder Of Glycosylation, Type Id	Cerebral atrophy, Microcephaly, Cerebellar atrophy, Macrotia	OMIM:601110
Leigh Syndrome	Cerebellar atrophy, Eczematoid dermatitis, Abnormal pattern of respiration, Increased CSF lactate...	ORPHA:506
Ebstein Anomaly	Ebstein anomaly of the tricuspid valve, Atrial septal defect	OMIM:224700
Parathyroid Carcinoma	Hypophosphatemia, Hypercalcemia	ORPHA:143
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Right aortic arch, Ventricular septal defect	ORPHA:513456
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Ventriculomegaly, Cerebellar dysplasia, Encephalocele, Agenesis of corpus callosum, Cerebellar hy...	OMIM:613150
Fanconi Anemia, Complementation Group L	Micropenis, Unilateral renal agenesis, Renal hypoplasia	OMIM:614083
Intellectual Developmental Disorder, Autosomal Dominant 47	Ventricular septal defect	OMIM:617635
Congenital Lobar Emphysema	Respiratory distress	ORPHA:1928
Branchiootorenal Syndrome 1	Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Vesico...	OMIM:113650
Degcags Syndrome	Chronic kidney disease, Oral-pharyngeal dysphagia, Hepatosplenomegaly, Micrognathia, Protruding t...	OMIM:619488
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Growth delay	ORPHA:2414
Chromosome 16P13.3 Duplication Syndrome	Wide nasal bridge, Bifid uvula, Depressed nasal bridge, Short toe, Short thumb, Tetralogy of Fall...	OMIM:613458
Srd5A3-Cdg	Abnormal cerebellar vermis morphology, Abnormal cerebellum morphology, Cerebellar atrophy, Ataxia	ORPHA:324737
Telangiectasia, Hereditary Hemorrhagic, Type 4	Arteriovenous fistulas of celiac and mesenteric vessels, Tongue telangiectasia, Dilatation of mes...	OMIM:610655
Osteopetrosis, Autosomal Recessive 2	Carious teeth, Mandibular osteomyelitis, Osteomyelitis, Persistence of primary teeth, Hydrocephal...	OMIM:259710
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Low-set ears, Cerebellar atrophy, Dysplastic corpus callosum, Microcephaly, Partial agenesis of t...	OMIM:619103
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Broad nasal tip, Carious teeth, Prominent veins on trunk, Decreased muscle mass, Anteverted nares...	ORPHA:357074
Nabais Sa-De Vries Syndrome, Type 2	Hypoplastic left heart, Multicystic kidney dysplasia	OMIM:618829
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Horseshoe kidney, Renal cyst, Ventricular septal defect	ORPHA:166035
Bilateral Generalized Polymicrogyria	Short stature, Microcephaly, Growth delay, Lateral ventricle dilatation	ORPHA:208447
Hypocalcemic Vitamin D-Resistant Rickets	Hypophosphatemia, Hypocalcemia	ORPHA:93160
Achondrogenesis, Type Ia	Depressed nasal bridge, Hypoplastic nasal bridge, Hypoplastic scapulae, Severe limb shortening, H...	OMIM:200600
Familial Or Sporadic Hemiplegic Migraine	Increased CSF protein concentration, Cerebellar atrophy, Hearing impairment, Tinnitus, CSF lympho...	ORPHA:569
Histiocytoid Cardiomyopathy	Stroke-like episode, Ventricular septal defect, Cardiomegaly, Pulmonary edema, Hydrocephalus, Hep...	ORPHA:137675
Multiple Sulfatase Deficiency	Sensorineural hearing impairment, Microcephaly, Hydrocephalus, Macrocephaly, Short stature	ORPHA:585
Listeriosis	Pneumonia, Increased CSF protein concentration, Ataxia, Arteritis, Hearing impairment, Hypoglycor...	ORPHA:533
Myopathy, Centronuclear, X-Linked	Dental malocclusion, Hydrocephalus, Dandy-Walker malformation, Macrocephaly	OMIM:310400
Dystonia-Aphonia Syndrome	Cerebellar atrophy, Cerebral atrophy, Gait disturbance, Unsteady gait, Abnormal vocal cord morpho...	ORPHA:412217
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Cardiomyopathy, Stage 5 chronic kidney disease, Myoglobinuria, Renal tubular epi...	ORPHA:157
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Bifid uvula, Abnormal heart morphology, Intestinal malrotation, Ventricular septal defect, Cleft ...	ORPHA:404440
Arachnoiditis	Tinnitus, Hydrocephalus, Hearing impairment	ORPHA:137817
Cardiofaciocutaneous Syndrome 1	Depressed nasal bridge, Gastroesophageal reflux, Dental malocclusion, Hypertrophic cardiomyopathy...	OMIM:115150
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin...	ORPHA:94093
Bartsocas-Papas Syndrome	Absent thumb, Underdeveloped nasal alae, Micrognathia, Short nose, Aplasia/Hypoplasia of the dist...	ORPHA:1234
Juvenile Nephropathic Cystinosis	Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H...	ORPHA:411634
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Ventriculomegaly, Hamartoma of tongue, Occipital meningocele, Atrial septal defect, Hydrocephalus...	OMIM:616546
Spinocerebellar Ataxia 10	Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Dysdiadochokinesis, Progressive cerebell...	OMIM:603516
Fanconi Anemia, Complementation Group R	Chiari type I malformation, Microcephaly, Growth delay, Hydrocephalus	OMIM:617244
Lymphangioleiomyomatosis	Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic...	ORPHA:538
Cockayne Syndrome A	Ventriculomegaly, Abnormal auditory evoked potentials, Carious teeth, Dental malocclusion, Cerebr...	OMIM:216400
Oculoauriculovertebral Spectrum With Radial Defects	Atrioventricular canal defect	ORPHA:2549
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Meier-Gorlin Syndrome 6	Depressed nasal ridge, Depressed nasal bridge, Gastroesophageal reflux, Microretrognathia, Underd...	OMIM:616835
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Abnormal heart morphology, Renal insufficiency, Vesicoureteral reflux,...	ORPHA:2237
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Aplasia/hypoplasia involving bones of the extremities, Depressed nasal bridge, Recurrent pneumoni...	ORPHA:508533
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Low-set ears, Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Agenesis o...	OMIM:619244
Nephrotic Syndrome, Type 11	High palate, Dilated cardiomyopathy, Cleft palate, Ventricular septal defect	OMIM:616730
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Wide nasal bridge, Anteverted nares, Cleft soft palate, Micrognathia, Submucous cleft soft palate...	ORPHA:2282
Meckel Syndrome, Type 2	Renal cyst	OMIM:603194
Cenani-Lenz Syndrome	High, narrow palate, Short thumb, Micromelia, Foot oligodactyly, Abnormal dental enamel morpholog...	ORPHA:3258
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Renal cortical cy...	OMIM:231680
Mayer-Rokitansky-Kuster-Hauser Syndrome	Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Polycystic ovaries,...	OMIM:277000
Severe Generalized Junctional Epidermolysis Bullosa	Pneumonia, Multicystic kidney dysplasia, Dilated cardiomyopathy, Hydroureter, Ureterocele, Urinar...	ORPHA:79404
Spastic Paraplegia 79B, Autosomal Recessive	Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Dysmetria, Loss of ambulation, Ataxia	OMIM:615491
Autosomal Recessive Malignant Osteopetrosis	Abnormal pulmonary valve morphology, Splenomegaly, Pulmonary artery stenosis, Anemia, Lymphadenop...	ORPHA:667
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Depressed nasal bridge, Short distal phalanx of finger, Delayed eruption of teeth, Underdeveloped...	OMIM:615866
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Anteverted nares, Micrognathia, Hypoplasia of teeth, Short nose, Wide nose	ORPHA:391408
Galloway-Mowat Syndrome 1	Low-set ears, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Secondary microcephaly, Int...	OMIM:251300
Optic Pathway Glioma	Growth delay, Hydrocephalus	ORPHA:2086
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Cryptococcosis	Pneumonia, Cerebral cortical atrophy, Respiratory distress, Osteomyelitis, Prostatitis, Peritonit...	ORPHA:1546
Loeys-Dietz Syndrome 5	Bifid uvula, Aortic root aneurysm, Cleft soft palate, Patent foramen ovale, Ventricular septal de...	OMIM:615582
Brachydactyly, Type B1	Ventricular septal defect	OMIM:113000
Mepan Syndrome	Gait disturbance, Cerebellar atrophy, Cerebral atrophy, Ataxia	ORPHA:508093
Frontofacionasal Dysplasia	Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, Short nose, Dimp...	ORPHA:1791
Cardiofaciocutaneous Syndrome	Depressed nasal bridge, Hypoplasia of the zygomatic bone, Hypertrophic cardiomyopathy, Functional...	ORPHA:1340
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Eczematoid dermatitis, Inability to walk, Apnea, Delayed eruption of primary ...	OMIM:617799
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Diffuse cerebellar atrophy, Limb ataxia, Progressive gait ataxia, Truncal ataxia, Progressive cer...	ORPHA:247815
Stromme Syndrome	Low-set ears, Cerebellar vermis hypoplasia, Micrognathia, Agenesis of corpus callosum, Cerebellar...	OMIM:243605
Immunodeficiency, Common Variable, 3	Recurrent otitis media, Conjunctivitis, Recurrent sinusitis	OMIM:613493
Vipoma	Hypokalemia, Hypercalcemia	ORPHA:97282
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	High palate, Atrial septal defect, Mitral valve prolapse	OMIM:300986
Meckel Syndrome, Type 3	Multicystic kidney dysplasia	OMIM:607361
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Anosmia, Short distal phalanx of finger, Hypoplasia of the zygomatic bone, Abnormal nostril morph...	ORPHA:1295
Spastic Paraplegia 85, Autosomal Recessive	Cerebellar atrophy	OMIM:619686
Immunodeficiency, Common Variable, 2	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Conjunctivitis, Bronchiectasis	OMIM:240500
Alazami Syndrome	Atrial septal defect	ORPHA:319671
Machado-Joseph Disease Type 1	Degeneration of the striatum, Cerebellar atrophy, Dilated fourth ventricle, Progressive gait atax...	ORPHA:276238
Machado-Joseph Disease Type 2	Degeneration of the striatum, Cerebellar atrophy, Dilated fourth ventricle, Progressive gait atax...	ORPHA:276241
Endove Syndrome, Limb-Brain Type	Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections	OMIM:619218
Juvenile Polyposis Syndrome	Arteriovenous malformation, Stomach cancer, Juvenile gastrointestinal polyposis, Small intestinal...	ORPHA:2929
Chromosome 1Q41-Q42 Deletion Syndrome	Ventriculomegaly, Ventricular septal defect, High palate, Holoprosencephaly, Cleft palate, Pulmon...	OMIM:612530
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cerebellar atrophy, Limb ataxia, Gait ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady ...	OMIM:619259
Cerebrooculonasal Syndrome	Low-set ears, Cerebellar vermis hypoplasia, Ventriculomegaly, Conductive hearing impairment, Post...	OMIM:605627
Osteopetrosis, Autosomal Recessive 1	Carious teeth, Hearing impairment, Osteomyelitis, Hydrocephalus, Calvarial osteosclerosis, Macroc...	OMIM:259700
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
Mckusick-Kaufman Syndrome	Hydroureter, Hydronephrosis, Aganglionic megacolon, Polycystic kidney dysplasia, Anal atresia, Re...	OMIM:236700
Malan Syndrome	Retrognathia, Hyperplasia of the premaxilla, Advanced eruption of teeth, Mandibular prognathia, S...	OMIM:614753
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis	OMIM:618060
Cooper-Jabs Syndrome	Anteriorly placed anus, Ventricular septal defect	ORPHA:1488
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Myofiber disarray, Patent foramen ovale, Ventricular septal defect, Bicus...	OMIM:620519
Immunodeficiency, Common Variable, 1	Pneumonia, Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Conjunctivitis, Bron...	OMIM:607594
Unilateral Polymicrogyria	Epistaxis, Pseudobulbar paralysis, Abnormal heart morphology, Pulmonary arteriovenous malformatio...	ORPHA:268943
Angioosteohypotrophic Syndrome	Venous malformation, Prominent superficial veins	ORPHA:75508
Spinocerebellar Ataxia 1	Dilated fourth ventricle, Limb ataxia, Dysmetria, Olivopontocerebellar atrophy, Spinocerebellar a...	OMIM:164400
X-Linked Intellectual Disability, Cantagrel Type	Gastroesophageal reflux, Short nose	ORPHA:85277
Spondyloenchondrodysplasia	Pneumonia, Ventriculomegaly, Dental malocclusion, Hepatitis, Delayed eruption of teeth, Abnormal ...	ORPHA:1855
Smith-Lemli-Opitz Syndrome	Abnormal localization of kidney, Multicystic kidney dysplasia, Gastroesophageal reflux, Microglos...	ORPHA:818
Hoxha-Aliu Syndrome	Vesicoureteral reflux, Hydronephrosis, Perimembranous ventricular septal defect, Atrial septal de...	OMIM:620662
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hearing impairment, Skin rash, Microcephaly, Hydrocephalus, Ataxia, Short stature	ORPHA:220295
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Neonatal death, Tachypnea, Nonspecific interstitial pneumonia, Exert...	OMIM:610921
Apert Syndrome	Bifid uvula, Ventriculomegaly, Ventricular septal defect, Overriding aorta, Ectopic anus, Esophag...	OMIM:101200
7Q31 Microdeletion Syndrome	Patent ductus arteriosus after birth at term, Recurrent respiratory infections, Atrial septal defect	ORPHA:251061
Primary Dystonia, Dyt4 Type	Respiratory distress, Gait disturbance, Dysdiadochokinesis	ORPHA:98805
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Low-set ears, Relative macrocephaly	OMIM:617895
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Degeneration of anterior horn cells	ORPHA:1145
Mesomelia-Synostoses Syndrome	High, narrow palate, Hydronephrosis, Aplasia/Hypoplasia of the uvula	ORPHA:2496
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease...	ORPHA:18
Thanatophoric Dysplasia, Type I	Disproportionate short-limb short stature, Lethal short-limbed short stature, Neonatal death, Hyd...	OMIM:187600
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate, Ventricular ...	ORPHA:124
Cystic Echinococcosis	Abnormal heart morphology, Hepatic cysts, Ovarian cyst, Renal cyst, Membranous nephropathy	ORPHA:400
Cholera	Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia	ORPHA:173
Chronic Pneumonitis Of Infancy	Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions	ORPHA:91359
Juvenile Polyposis Of Infancy	High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Abnormal heart morphology, ...	ORPHA:79076
Mucopolysaccharidosis Type 3	Ventriculomegaly, Recurrent tonsillitis, Aspiration pneumonia, Adenoiditis, Respiratory tract inf...	ORPHA:581
Toluene Embryopathy	Hydronephrosis, Micrognathia, Hypoplasia of the zygomatic bone, Short nose	ORPHA:1920
Zttk Syndrome	Wide nasal bridge, Bifid uvula, Unilateral renal agenesis, Depressed nasal bridge, Small hand, Hy...	OMIM:617140
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus, Atrial septal defect	OMIM:207410
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Cerebral cortical atrophy, Recurrent pneumonia, Cerebellar atrophy, Secondary microcephaly, Micro...	ORPHA:496641
Machado-Joseph Disease Type 3	Degeneration of the striatum, Cerebellar atrophy, Dilated fourth ventricle, Progressive gait atax...	ORPHA:276244
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Atrial septal defect	OMIM:619115
Osteoglophonic Dysplasia	Hypoplastic scapulae, Chordee, High palate, Short foot, Hypospadias, Short metacarpal, Short nose...	OMIM:166250
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepatosplenomegaly, S...	OMIM:614866
Trisomy 18	Choanal atresia, Microretrognathia, Camptodactyly of finger, Congenital diaphragmatic hernia, Ven...	ORPHA:3380
Kinsship Syndrome	Horseshoe kidney, Renal hypoplasia	OMIM:619297
Autoimmune Polyendocrinopathy Type 3	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Biliary cirrhosi...	ORPHA:227982
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Hajdu-Cheney Syndrome	Aortic valve stenosis, Intestinal malrotation, Mitral stenosis, Splenomegaly, Ventricular septal ...	ORPHA:955
Mitochondrial Dna Depletion Syndrome 17	Cerebellar atrophy, Cerebral atrophy	OMIM:618567
Specc1L-Related Hypertelorism Syndrome	Wide nasal bridge, Short toe, Tetralogy of Fallot, Prominent nasal bridge, Ventricular septal def...	ORPHA:1519
Anaplastic Thyroid Carcinoma	Respiratory distress, Laryngotracheal stenosis, Dyspnea	ORPHA:142
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Low-set ears, Growth delay, Cerebral atrophy, Respiratory distress, Intrauterine growth retardati...	ORPHA:79282
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Unilateral renal agenesis, Hypoplasia of the maxilla, Anteverted nares, Microg...	OMIM:213980
Mucopolysaccharidosis, Type Vi	Pneumonia, Cervical myelopathy, Recurrent upper respiratory tract infections, Cardiomyopathy, Mit...	OMIM:253200
Insulin-Like Growth Factor I, Resistance To	High palate, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:270450
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Hypospadias, Unilateral renal agenesis, Gastroesophageal reflux, Ventricul...	ORPHA:464306
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Intracranial hemorrhage, Ventricular septal defect	ORPHA:369929
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic ane...	OMIM:616084
Ppoma	Hypercalcemia	ORPHA:97278
Al Kaissi Syndrome	High, narrow palate, Atrial septal defect	OMIM:617694
Axenfeld-Rieger Syndrome, Type 3	Patent ductus arteriosus, Atrial septal defect	OMIM:602482
Malan Overgrowth Syndrome	Ventriculomegaly, Lateral ventricle dilatation, Episodic ataxia, Macrocephaly	ORPHA:420179
Scalp-Ear-Nipple Syndrome	Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, Renal insufficiency, Cardiac myxoma	OMIM:181270
Robinow Syndrome, Autosomal Recessive 1	Small hand, Micrognathia, Hypospadias, Mesomelic arm shortening, Short nose, Abnormal heart morph...	OMIM:268310
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Ankyloglossia, Truncus arteriosus, Ventricular septal defect, Aortic aneurys...	ORPHA:261330
Gapo Syndrome	High, narrow palate, Depressed nasal bridge, Eruption failure, Retinal arteriolar tortuosity, Pro...	OMIM:230740
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Pleural eff...	OMIM:261740
Galloway-Mowat Syndrome 3	Low-set ears, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Intrauterine growth retarda...	OMIM:617729
East Syndrome	Cerebellar atrophy, Difficulty walking, Inability to walk, Sensorineural hearing impairment, Ataxia	ORPHA:199343
Spondylo-Ocular Syndrome	Ventricular septal defect	ORPHA:85194
Meckel Syndrome, Type 6	Horseshoe kidney, Renal cyst, Hepatic cysts, Aplasia of the bladder	OMIM:612284
Okamoto Syndrome	Aortic valve stenosis, Exaggerated median tongue furrow, Abnormal mitral valve morphology, Ventri...	ORPHA:2729
Lhermitte-Duclos Disease	Ataxia, Enlarged cerebellum, Hydrocephalus, Macrocephaly	ORPHA:65285
Alpha-Mannosidosis, Infantile Form	Pneumonia, Cerebral cortical atrophy, Ataxia, Chiari malformation, Cerebellar atrophy, Abnormalit...	ORPHA:309282
Waardenburg Syndrome Type 1	Wide nasal bridge, Underdeveloped nasal alae, Aganglionic megacolon, Short nose, Mandibular progn...	ORPHA:894
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Gastroesophageal reflux, Ventricul...	ORPHA:464311
Esophageal Atresia	Esophagitis, Abnormal gastrointestinal tract morphology, Ventricular septal defect, Dysphagia, Du...	ORPHA:1199
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Small hand, Gastroesophageal reflux, Aortic root aneurysm, Aspiration pneumonia, Horseshoe kidney...	ORPHA:444077
Autosomal Recessive Spastic Paraplegia Type 39	Gait ataxia, Cerebellar atrophy, Atrophy of the spinal cord	ORPHA:139480
Spinocerebellar Ataxia 27A	Gait ataxia, Abnormal vestibulo-ocular reflex, Cerebellar atrophy, Limb ataxia	OMIM:193003
Osteopathia Striata With Cranial Sclerosis	Low-set ears, Conductive hearing impairment, Natal tooth, Craniofacial osteosclerosis, Dental mal...	OMIM:300373
Farber Disease	Recurrent upper respiratory tract infections, Respiratory distress, Brain atrophy, Laryngeal stri...	ORPHA:333
Warburg Micro Syndrome 3	Decreased muscle mass, Micrognathia, Micropenis, Narrow palate, Flexion contracture, Short nose	OMIM:614222
Noonan Syndrome	Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Abnormality of the spleen, Abnorma...	ORPHA:648
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Hydronephrosis, High palate, Cleft palate	ORPHA:488613
Holoprosencephaly-Postaxial Polydactyly Syndrome	Abnormal lung lobation, Intestinal malrotation, Encephalocele, Hydrocephalus, Abnormal cardiac se...	ORPHA:2166
Oncogenic Osteomalacia	Hypophosphatemia, Hypocalcemia	ORPHA:352540
Bcard Syndrome	Contracture of the proximal interphalangeal joint of the 2nd finger, Dilatation of the cerebral a...	OMIM:612394
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Intestinal malrotation, Short columella, Diastasis recti, Mitral valve prolaps...	OMIM:601776
Tetanus	Respiratory distress, Tachypnea, Trismus, Laryngospasm	ORPHA:3299
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Arteria lusoria, Anteriorly placed anus, Vesicoureteral reflux, Patent foramen ovale, Hydronephro...	OMIM:618653
Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Depressed nasal bridge, Abnormality of the temporomandibular joint, Abnorm...	ORPHA:536471
Nephronophthisis 18	Tubulointerstitial nephritis, Hydrocephalus	OMIM:615862
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Colitis, Low-frequency sensorineural hearing impairment, Recurrent upper respiratory tract infect...	OMIM:613101
Geleophysic Dysplasia 2	Aortic valve stenosis, Mitral stenosis, Mitral valve prolapse, Short palm, Hepatomegaly, Tricuspi...	OMIM:614185
Achondroplasia	Rhizomelia, Disproportionate short stature, Hearing impairment, Hydrocephalus, Macrocephaly	ORPHA:15
Costello Syndrome	Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Macroglossia, Narr...	ORPHA:3071
Chromosome 2P16.1-P15 Deletion Syndrome	High, narrow palate, Recurrent upper respiratory tract infections, Hydronephrosis, Micropenis, Hi...	OMIM:612513
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Recurrent sinusitis, Recurrent bacterial skin infections, Chronic o...	ORPHA:217390
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Retrognathia, Neonatal death	OMIM:300219
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Recurrent sinusitis, Recurrent skin infections, Bronchie...	OMIM:616576
Oxoglutaric Aciduria	Short stature, Hydrocephalus, Ataxia	ORPHA:31
Apert Syndrome	Hypoplasia of the maxilla, Ventriculomegaly, Conductive hearing impairment, Delayed eruption of t...	ORPHA:87
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Dilated third ventricle, Tip-toe gait, Lateral ventricle dilatation, Cerebral atrophy, Spastic ga...	OMIM:617296
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Low-set ears, Ventriculomegaly, Occipital encephalocele, Atresia of the external auditory canal, ...	OMIM:236670
Den Hoed-De Boer-Voisin Syndrome	Ventriculomegaly, Carious teeth, Yellow-brown discoloration of the teeth, Lateral ventricle dilat...	OMIM:619229
Intellectual Developmental Disorder, X-Linked 98	Depressed nasal bridge, Gastroesophageal reflux, Underdeveloped nasal alae, Anteverted nares, Pro...	OMIM:300912
Scholte Syndrome	Cerebellar atrophy	OMIM:300977
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Elevated circulating hepatic transa...	OMIM:620005
Costello Syndrome	Ventriculomegaly, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, ...	OMIM:218040
Desbuquois Dysplasia 1	Depressed nasal bridge, Microretrognathia, Short 1st metacarpal, Malar flattening, Concave nasal ...	OMIM:251450
Smith-Kingsmore Syndrome	Depressed nasal bridge, Short distal phalanx of finger, Rhizomelia, Diastasis recti, Short proxim...	OMIM:616638
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Cerebral atrophy, Inability to walk, Gait disturbance, Corpus callosum atroph...	ORPHA:168491
1P36 Deletion Syndrome	Hypospadias, Gastroesophageal reflux, Dilated cardiomyopathy, Annular pancreas, Abnormal heart va...	ORPHA:1606
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar vermis hypoplasia, Cerebellar atrophy, Dilated fourth ventricle, Dysmetria, Cerebellar...	OMIM:212065
Bladder Exstrophy And Epispadias Complex	Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias	OMIM:600057
Osteogenesis Imperfecta, Type X	Dentinogenesis imperfecta, Recurrent pneumonia, Rhizomelia, Respiratory distress, Micrognathia, M...	OMIM:613848
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Ventriculomegaly, Ventricular septal defect, Aortic aneurysm, Atrial septa...	ORPHA:96121
Chromosome 3Q29 Duplication Syndrome	Wide nasal bridge, Bulbous nose, Short nose	OMIM:611936
Ciliary Dyskinesia, Primary, 42	Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Hereditary Cryohydrocytosis With Reduced Stomatin	Ataxia, Hypoglycorrhachia, Postnatal growth retardation, Microcephaly, Macrocephaly, Short statur...	ORPHA:168577
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Pneumonia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatitis, Respiratory di...	ORPHA:37042
Neurodegeneration With Brain Iron Accumulation 5	Neurodegeneration, Akinesia, Cerebellar atrophy, Cerebral atrophy	OMIM:300894
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Low-set ears, Mandibular prognathia, Hypoplasia of the pons, Micrognathia, Sensorineural hearing ...	OMIM:619512
Mitochondrial Complex I Deficiency, Nuclear Type 28	Cerebellar atrophy, Hearing impairment, Akinesia, Truncal ataxia, Choreoathetosis	OMIM:618249
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Nephritis, Unilateral renal atrophy, Pyelonephritis, Varicose veins, Renal dysplasia	OMIM:314300
Williams Syndrome	Carious teeth, Micrognathia, Mitral valve prolapse, Ventricular septal defect, Myopathy, Bicuspid...	ORPHA:904
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Anteverted nares, Malar flattening, Concave nasal ridge, Macroglossia, Sh...	OMIM:613038
X-Linked Intellectual Disability Due To Gria3 Mutations	Micropenis, Narrow palate, Hydronephrosis	ORPHA:364028
Icf Syndrome	Low-set ears, Micrognathia, Macrocephaly, Short stature, Communicating hydrocephalus	ORPHA:2268
Thrombocytopenia-Absent Radius Syndrome	Meckel diverticulum, Tetralogy of Fallot, Atrioventricular canal defect, Hepatosplenomegaly, Leuk...	OMIM:274000
Japanese Encephalitis	Increased CSF protein concentration, Abnormal pattern of respiration, Respiratory distress, Infec...	ORPHA:79139
Joubert Syndrome 39	Hypoplastic left heart, Polycystic kidney dysplasia	OMIM:619562
Ear-Patella-Short Stature Syndrome	Low-set ears, Severe short stature, Hypoplasia of the maxilla, Microtia, third degree, Atresia of...	ORPHA:2554
Cerebral Visual Impairment	Central nervous system degeneration, Neurodegeneration, Infectious encephalitis, Microcephaly, Hy...	ORPHA:447788
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Hearing impairment, Cochlear degeneration, Difficulty walking, Gait ataxia, Spinocerebellar atrop...	ORPHA:95433
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Cerebellar atrophy, Secondary microcephaly, Postnatal growth retardation, Dysmetria, Sensorineura...	OMIM:616263
Micro Syndrome	Wide nasal bridge, Anteverted nares, Micrognathia, Hydronephrosis, High palate, Hypoplasia of pen...	ORPHA:2510
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Cerebellar atrophy, Intrauterine growth retardation, Dysmetria, Cerebellar hypoplasia, Gait distu...	OMIM:301310
Kleefstra Syndrome 1	Macroglossia, Recurrent respiratory infections, Conotruncal defect, Protruding tongue	OMIM:610253
Somatostatinoma	Hypercalcemia	ORPHA:97283
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia	Cerebellar atrophy, Microcephaly, Gait disturbance, Ataxia, Spastic gait	OMIM:620538
Gomez-Lopez-Hernandez Syndrome	High palate, Anteverted nares, Malar flattening, Short nose	OMIM:601853
Shprintzen-Goldberg Craniosynostosis Syndrome	Mitral valve prolapse, Aortic aneurysm, Hydrocephalus, High palate, Narrow palate	OMIM:182212
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
X Small Rings	Bicuspid aortic valve, Aortic root aneurysm, Mitral stenosis, Ventricular septal defect	ORPHA:96201
Phace Syndrome	Aortic root aneurysm, Abnormal heart morphology, Tetralogy of Fallot, Abnormal cerebral artery mo...	ORPHA:42775
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hepatic fibrosis, Microglossia, Lateral ventricle dilatation, Hamartoma of tongue, Intestinal mal...	OMIM:263520
Immunodeficiency 13	Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Recurr...	OMIM:615518
19P13.3 Microduplication Syndrome	Cleft palate, Ventricular septal defect	ORPHA:447980
10Q22.3Q23.3 Microdeletion Syndrome	Atrioventricular canal defect, Tricuspid valve prolapse, Patent ductus arteriosus	ORPHA:276413
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia	OMIM:127000
Msh3-Related Attenuated Familial Adenomatous Polyposis	Renal cyst, Ovarian dermoid cyst	ORPHA:480536
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Micrognathia, Perineal fistula, Rectal atresia, Anal atresia, Re...	ORPHA:2753
Chitayat Syndrome	Respiratory distress, Short stature	OMIM:617180
Glutaryl-Coa Dehydrogenase Deficiency	Ventriculomegaly, Pallidal degeneration, Progressive macrocephaly, Subependymal nodules, Ataxia, ...	ORPHA:25
Congenital Bile Acid Synthesis Defect Type 2	Renal cyst, Dark urine	ORPHA:79303
16Q24.3 Microdeletion Syndrome	Ventriculomegaly, Dilated cardiomyopathy, Increased mean corpuscular volume, Ventricular septal d...	ORPHA:261250
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Hippocampal atrophy, Microcephaly, Shor...	OMIM:618922
Galloway-Mowat Syndrome 7	High palate, Dilated cardiomyopathy, Cleft palate, Ventricular septal defect	OMIM:618348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebellar vermis hypoplasia, Ventriculomegaly, Hydrocephalus, Macrocephaly, Cerebellar cyst	OMIM:616538
17Q23.1Q23.2 Microdeletion Syndrome	Patent ductus arteriosus, Atrial septal defect	ORPHA:261279
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Recurrent otitis media, Bronchiectasis, Recurrent sinusitis	OMIM:300853
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Low-set ears, Cerebellar vermis hypoplasia, Retrognathia, Inability to walk, Malar flattening, Mi...	OMIM:620083
Kabuki Syndrome 1	Anal stenosis, Anoperineal fistula, Lateral ventricle dilatation, Intestinal malrotation, Ventric...	OMIM:147920
Fatty Acid Hydroxylase-Associated Neurodegeneration	Falls, Cerebellar atrophy, Cerebellar vermis atrophy, Loss of ambulation, Progressive gait ataxia...	ORPHA:329308
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Gastroesophageal reflux, Broad columella, Advanced eruption of teeth, Sho...	OMIM:617865
Campomelia, Cumming Type	Multicystic kidney dysplasia, Pancreatic cysts, Multiple renal cysts	ORPHA:1318
Crouzon Syndrome	Hypoplasia of the maxilla, Conductive hearing impairment, Atresia of the external auditory canal,...	OMIM:123500
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Renal insuff...	ORPHA:93111
Kabuki Syndrome	Abnormal localization of kidney, Crossed fused renal ectopia, Ureteropelvic junction obstruction,...	ORPHA:2322
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Depressed nasal bridge, Malar flattening, Patent foramen ovale, Carpal bone hypoplasia, Short met...	ORPHA:457395
Otopalatodigital Syndrome, Type I	Wide nasal bridge, Short distal phalanx of finger, Short 3rd metacarpal, Short 5th metacarpal, Ma...	OMIM:311300
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Zollinger-Ellison Syndrome	Hypercalcemia	ORPHA:913
Spastic Tetraplegia And Axial Hypotonia, Progressive	Low-set ears, Posteriorly rotated ears, Ataxia, Cerebellar atrophy	OMIM:618598
Cole-Carpenter Syndrome 1	Dentinogenesis imperfecta, Micrognathia, Hydrocephalus, Short stature, Communicating hydrocephalus	OMIM:112240
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Horseshoe kidney, Renal cyst, Ventricular septal defect	OMIM:250410
Aarskog-Scott Syndrome	Wide nasal bridge, Short 5th finger, Hypoplasia of the maxilla, Hypoplasia of the odontoid proces...	OMIM:305400
Diamond-Blackfan Anemia 8	Wide nasal bridge, Short nose	OMIM:612563
Bohring-Opitz Syndrome	Intestinal malrotation, Bilateral cleft palate, Hyperechogenic pancreas, Ventricular septal defec...	OMIM:605039
Surfactant Metabolism Dysfunction, Pulmonary, 2	Recurrent pneumonia, Respiratory distress, Interstitial pneumonitis, Tachypnea, Nonspecific inter...	OMIM:610913
Trichothiodystrophy	Diffuse cerebellar atrophy, Cerebral cortical atrophy, Ventriculomegaly, Carious teeth, Eczematoi...	ORPHA:33364
Noonan Syndrome 13	High palate, Atrial septal defect, Mitral valve prolapse	OMIM:619087
20Q11.2 Microduplication Syndrome	Wide nasal bridge, Depressed nasal bridge, Retrognathia, Anteverted nares, Short foot, Short palm...	ORPHA:363659
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Anteverted nares, Short nose	OMIM:619854
Spinocerebellar Ataxia Type 21	Cerebellar vermis atrophy, Akinesia, Gait ataxia, Progressive cerebellar ataxia	ORPHA:98773
Gabriele-De Vries Syndrome	Aortopulmonary collateral arteries, Ureteropelvic junction obstruction, Patent foramen ovale, Hyd...	OMIM:617557
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Dilated fourth ventricle, Ventricular septal defect	OMIM:619306
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Carious teeth, Grade III vesicoureteral reflux, Ventricular septal defect, Urethral stricture, Ch...	OMIM:619522
Myotonic Dystrophy 1	Respiratory distress, Cerebral atrophy	OMIM:160900
Williams-Beuren Syndrome	Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Ce...	OMIM:194050
Mody	Nephropathy, Renal cyst, Glycosuria, Abnormality of the kidney	ORPHA:552
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Neoplasm of the heart, Hydroureter, Megacystis	ORPHA:2241
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Velopharyngeal insufficiency, Vesicoureteral reflux, Ventricular septal defect, Hydronephrosis, A...	OMIM:620663
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu...	ORPHA:449432
Acrocallosal Syndrome	Wide nasal bridge, Bifid uvula, Mandibular prognathia, Microretrognathia, Pulmonary valve defects...	OMIM:200990
Plaa-Associated Neurodevelopmental Disorder	Ventriculomegaly, Low-set, posteriorly rotated ears, Apnea, Micrognathia, Sensorineural hearing i...	ORPHA:521426
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Sensorineural hearing impairment, Diffuse cerebral atrophy, Loss of ambulatio...	OMIM:607426
Infant Acute Respiratory Distress Syndrome	Pneumonia, Tachypnea, Nasal flaring	ORPHA:70587
Milroy Disease	Abnormal venous morphology, Varicose veins	ORPHA:79452
5Q14.3 Microdeletion Syndrome	Anteverted nares, Short nose	ORPHA:228384
Grfoma	Hypercalcemia	ORPHA:97261
Bdv Syndrome	Atrial septal defect	OMIM:619326
Cranioectodermal Dysplasia 3	Peripheral pulmonary artery stenosis, Nephronophthisis, Rhizomelia, Micrognathia, Stage 5 chronic...	OMIM:614099
Schinzel-Giedion Midface Retraction Syndrome	Depressed nasal bridge, Short distal phalanx of finger, Hydroureter, Short 1st metacarpal, Ureter...	OMIM:269150
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Peutz-Jeghers Syndrome	Enlarged polycystic ovaries, Abnormality of the ureter, Multiple renal cysts, Renal cell carcinoma	ORPHA:2869
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Ventricular septal defect, Hepatob...	ORPHA:373
Multiple Acyl-Coa Dehydrogenase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Cardiomyopathy, Abnormal heart morphology, Lacticac...	ORPHA:26791
Opsismodysplasia	Renal phosphate wasting, Depressed nasal bridge, Rhizomelia, Hypoplasia of the odontoid process, ...	OMIM:258480
Teebi-Shaltout Syndrome	High, narrow palate, Aortic valve stenosis, Ureteral stenosis, Horseshoe kidney, Ventricular sept...	OMIM:272950
Acrofacial Dysostosis, Catania Type	Small hand, Carious teeth, Microretrognathia, Hypoplasia of the zygomatic bone, Short palm, Hypos...	ORPHA:1786
Ritscher-Schinzel Syndrome 3	Atrioventricular canal defect	OMIM:619135
Mercury Poisoning	Respiratory distress, Dyspnea, Interstitial pneumonitis	ORPHA:330021
Endove Syndrome, Limb-Only Type	Hydronephrosis, Vesicoureteral reflux	OMIM:619217
Mgat2-Cdg	Abnormal heart morphology, Ventricular septal defect, Impaired lymphocyte transformation with phy...	ORPHA:79329
Trisomy 20P	Abnormality of the ureter, Hydronephrosis, Ectopic anus, Multiple renal cysts, Abnormality of the...	ORPHA:261318
Microlissencephaly-Micromelia Syndrome	Respiratory distress, Secondary microcephaly, Cerebellar hypoplasia	ORPHA:50810
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Cleft palate, Ventricular septal defect	ORPHA:1770
Marshall-Smith Syndrome	Choanal atresia, Retrognathia, Anteverted nares, Protruding tongue, Short nose	ORPHA:561
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Familial Multiple Nevi Flammei	Intracranial hemorrhage, Arteriovenous malformation, Venous insufficiency	ORPHA:624
Isolated Posterior Meningocele	Chiari malformation, Difficulty walking, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipi...	ORPHA:268810
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h...	OMIM:617052
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, High palate, Cleft palate...	OMIM:610759
Tetrasomy 18P	Achalasia, Short nose	ORPHA:3307
Lymphatic Malformation 13	Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Neonatal death	OMIM:620244
Parkes Weber Syndrome	Abnormality of the urinary system, Arteriovenous malformation, Urinary retention, Vascular tortuo...	ORPHA:90307
Osteopetrosis, Autosomal Recessive 7	Recurrent pneumonia, Lateral ventricle dilatation, Hydrocephalus, Growth delay, Increased head ci...	OMIM:612301
Lathosterolosis	Horseshoe kidney, Anteverted nares, Foam cells with lamellar inclusion bodies, Micrognathia, Prom...	OMIM:607330
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous absce...	OMIM:243700
Glucagonoma	Hypercalcemia	ORPHA:97280
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microglossia, Aplasia of the distal phalanx of the 5th toe, Underdeveloped nasal alae, Cleft mand...	ORPHA:364577
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Ventriculomegaly, Hydrocephalus, Nasofrontal encephalocele, Severe sensorineural hearing impairme...	OMIM:614195
Multiple Endocrine Neoplasia Type 2	Hypercalcemia	ORPHA:653
Au-Kline Syndrome	Chronic kidney disease, Bifid uvula, Bifid nasal tip, Gastroesophageal reflux, Aortic root aneury...	OMIM:616580
Immunodeficiency, Common Variable, 10	Recurrent pneumonia, Recurrent otitis media, Psoriasiform dermatitis, Recurrent viral upper respi...	OMIM:615577
Atrioventricular Septal Defect 4	Primum atrial septal defect	OMIM:614430
Bartsocas-Papas Syndrome 1	Anal stenosis, Hypoplastic scapulae, Arthrogryposis multiplex congenita, Hypoplasia of the maxill...	OMIM:263650
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Dysmetria, Gait disturbance, Ataxia, Dysdiadochokinesis, Progressive cerebell...	OMIM:277460
Wiedemann-Steiner Syndrome	Patent ductus arteriosus, Atrial septal defect, High palate	OMIM:605130
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia	ORPHA:3015
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
Schinzel-Giedion Syndrome	Abnormality of the ureter, Micrognathia, Hepatoblastoma, High palate, Hypospadias, Dysphagia, Sho...	ORPHA:798
Cimdag Syndrome	Cerebellar vermis hypoplasia, Cerebral atrophy, Pontocerebellar atrophy, Sensorineural hearing im...	OMIM:619273
Ruvalcaba Syndrome	Small hand, Micromelia, Hematuria, Convex nasal ridge, Short metacarpal, Short nose	ORPHA:3121
Antley-Bixler Syndrome	Choanal atresia, Hypoplasia of the zygomatic bone, Camptodactyly of finger, Anteverted nares, Sho...	ORPHA:83
Chromosome 10Q26 Deletion Syndrome	Patent ductus arteriosus, Atrial septal defect, High palate	OMIM:609625
Filippi Syndrome	Ventricular septal defect	ORPHA:3255
Townes-Brocks Syndrome	Renal hypoplasia, Tetralogy of Fallot, Renal insufficiency, Vesicoureteral reflux, Abnormal pulmo...	ORPHA:857
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
X-Linked Dominant Chondrodysplasia Punctata	Hydronephrosis, Abnormal lung morphology, High palate	ORPHA:35173
Acrodysostosis 1 With Or Without Hormone Resistance	Hypoplasia of the maxilla, Disproportionate short-limb short stature, Hearing impairment, Dental ...	OMIM:101800
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Lateral ventricle dilatation, Tetralogy of Fallot, Muscular ventricular septal defect, Death in c...	OMIM:210710
Adnp Syndrome	Low-set ears, Recurrent upper respiratory tract infections, Ventriculomegaly, Cerebral atrophy, R...	ORPHA:404448
Stt3A-Cdg	Microcephaly, Cerebellar atrophy	ORPHA:370921
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Micrognathia, Short nose	ORPHA:1129
Autosomal Recessive Ataxia, Beauce Type	Cerebellar atrophy, Dysmetria, Gait disturbance, Atrophy/Degeneration affecting the brainstem, At...	ORPHA:88644
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Congenital pulmonary airway malformation, Hepatitis, Jejunoileal ulceration, ...	ORPHA:436252
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Cerebellar vermis hypoplasia, Cerebellar atrophy, Gait ataxia, Diffuse cerebral atrophy, Microcep...	ORPHA:543470
Cleidocranial Dysplasia 1	Absent paranasal sinuses, Hearing impairment, Respiratory distress, Micrognathia, Malar flattenin...	OMIM:119600
Endocrine-Cerebroosteodysplasia	Low-set ears, Ventriculomegaly, Natal tooth, Micrognathia, Laryngeal hypoplasia, Agenesis of corp...	OMIM:612651
Pontocerebellar Hypoplasia, Type 10	Wide nasal bridge, Gastroesophageal reflux, Underdeveloped nasal alae, Bulbous nose, Limb hyperto...	OMIM:615803
Cockayne Syndrome	Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency, Proteinuria, Neurogenic bladder...	ORPHA:191
Eisenmenger Syndrome	Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Patent ductus ...	ORPHA:97214
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Atrial septal defect, Abnormal mitral valve morphology	ORPHA:1292
H Syndrome	Microcytic anemia, Hepatosplenomegaly, Azoospermia, Recurrent pharyngitis, Lymphadenopathy, Hydro...	ORPHA:168569
Congenital Disorder Of Glycosylation, Type Iiw	Elevated circulating hepatic transaminase concentration, Increased hepatic echogenicity, Tetralog...	OMIM:619525
Acrofacial Dysostosis 1, Nager Type	Velopharyngeal insufficiency, Tetralogy of Fallot, Ventricular septal defect, Aganglionic megacol...	OMIM:154400
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Spina bifida occulta, Atrial septal defect, Ventricular septal defect	OMIM:617360
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Mucopolysaccharidosis, Type Iiid	Low-set ears, Recurrent upper respiratory tract infections, Cerebellar atrophy, Hearing impairmen...	OMIM:252940
Intellectual Developmental Disorder, Autosomal Dominant 62	Cerebellar vermis atrophy	OMIM:618793
Branchio-Oculo-Facial Syndrome	Hydronephrosis, High palate, Renal agenesis, Multicystic kidney dysplasia	ORPHA:1297
Pfeiffer Syndrome Type 1	Depressed nasal bridge, Aplasia/Hypoplasia of the thumb, Short hallux, Short palm, High palate, S...	ORPHA:93258
Distal 22Q11.2 Microduplication Syndrome	Ventricular septal defect, Tricuspid valve prolapse, Anal atresia, Hydrocephalus, Macroglossia, H...	ORPHA:261337
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Anteriorly placed anus, Duplicated col...	OMIM:258040
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia	ORPHA:289157
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Migraine, Familial Hemiplegic, 2	Gait ataxia, Cerebellar atrophy, Dysmetria, Episodic ataxia	OMIM:602481
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Abnormality of the pulmonary artery	ORPHA:1065
Fanconi Anemia, Complementation Group N	Aplastic anemia, Ventricular septal defect, Acute myeloid leukemia, Atrial septal defect, Anal at...	OMIM:610832
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Depressed nasal bridge, Underdeveloped nasal alae, Anteverted nares, Micrognathia, Hepatomegaly, ...	OMIM:619005
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Shuffling gait, Akinesia, Gait ataxia, Ataxia, Cerebellar cortical atrophy, Abnormal vestibulo-oc...	ORPHA:247234
Frontometaphyseal Dysplasia 1	Cor pulmonale, Hydroureter, Mitral valve prolapse, Hydronephrosis, High palate, Cleft palate	OMIM:305620
Developmental And Epileptic Encephalopathy 89	Low-set ears, Microretrognathia, Cerebellar atrophy, Cerebral atrophy, Asymmetry of the ears, Neo...	OMIM:619124
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dilated third ventricle, Lateral ventricle dilatation, Retrognathia, Sensorineural hearing impair...	ORPHA:544488
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Webb-Dattani Syndrome	Gastroesophageal reflux, Vesicoureteral reflux, Hydronephrosis, Neurogenic bladder, Hyposthenuria	OMIM:615926
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Short stature, Intrauterine growth retardation, Growth delay, Cerebellar atrophy	OMIM:618541
Opitz-Kaveggia Syndrome	Narrow palate, Anal stenosis, Anteriorly placed anus, Abnormal heart morphology, Intestinal malro...	OMIM:305450
Ctcf-Related Neurodevelopmental Disorder	Macrodontia of permanent maxillary central incisor, Gastroesophageal reflux, Broad nasal tip, Pul...	ORPHA:363611
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Short stature, Cerebellar atrophy, Cerebral atrophy	OMIM:268020
Microphthalmia With Linear Skin Defects Syndrome	Severe short stature, Hearing impairment, Abnormal earlobe morphology, Retrognathia, Respiratory ...	ORPHA:2556
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Recurren...	OMIM:614700
Igg4-Related Thyroid Disease	Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Pancreatic fibrosis, Abnormal pit...	ORPHA:64744
Shwachman-Diamond Syndrome 2	Normocytic anemia, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Neutropenia, Throm...	OMIM:617941
Shprintzen-Goldberg Syndrome	Low-set ears, Hypoplasia of the maxilla, Ventriculomegaly, Conductive hearing impairment, Retrogn...	ORPHA:2462
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Osteomyelitis, Skin rash, Pustule, Stomatitis	OMIM:612852
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic valve stenosis, Hypospadias, Unilateral renal agenesis, Gastroesophageal reflux, Broad nas...	ORPHA:268261
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Hamartoma ...	ORPHA:2750
Zimmermann-Laband Syndrome 1	Aortic root aneurysm, Cardiomyopathy, Aortic arch aneurysm, Splenomegaly, Hepatomegaly, Spina bif...	OMIM:135500
Spinocerebellar Ataxia 8	Cerebellar atrophy, Progressive cerebellar ataxia	OMIM:608768
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Atopic dermatitis, Cerebellar atrophy, Hearing impairment, Tip-toe gait, Difficulty walking, Inab...	ORPHA:466768
Cerebellar-Facial-Dental Syndrome	Ascending tubular aorta aneurysm, Ventriculomegaly, Mitral valve prolapse, Ventricular septal defect	ORPHA:444072
Mitochondrial Complex I Deficiency, Nuclear Type 1	Increased CSF protein concentration, Cerebellar atrophy, Increased CSF lactate, Apnea, Sensorineu...	OMIM:252010
Carnitine Deficiency, Systemic Primary	Respiratory distress	OMIM:212140
Hyperphosphatasia-Intellectual Disability Syndrome	Bifid uvula, Anteriorly placed anus, Hydronephrosis, Aganglionic megacolon, High palate	ORPHA:247262
Senior-Loken Syndrome 8	Vascular dilatation, Intrahepatic bile duct dilatation, Pancreatic cysts, Hepatic cysts	OMIM:616307
Ataxia-Oculomotor Apraxia 3	Cerebellar atrophy, Dysmetria, Ataxia	OMIM:615217
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Enuresis nocturna, Wide nasal bridge, Gastroesophageal reflux, Broad nasal t...	OMIM:615873
Semilobar Holoprosencephaly	Abnormal pattern of respiration, Aspiration pneumonia, Inability to walk, Sensorineural hearing i...	ORPHA:220386
Alobar Holoprosencephaly	Abnormal pattern of respiration, Aspiration pneumonia, Inability to walk, Sensorineural hearing i...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Abnormal pattern of respiration, Aspiration pneumonia, Inability to walk, Sensorineural hearing i...	ORPHA:93926
Lobar Holoprosencephaly	Abnormal pattern of respiration, Aspiration pneumonia, Inability to walk, Sensorineural hearing i...	ORPHA:93924
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Recurrent respiratory infections, Hydronephrosis, High palate, Dysp...	ORPHA:261349
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pulmonary hypoplasia, Pancreatic fibrosis, Ventricular septal defect	OMIM:615503
Enlarged Parietal Foramina	Venous malformation, Abnormal cerebral vein morphology	ORPHA:60015
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Decreased liver function, Exocrine pancreatic insufficiency, Splenomegaly, Ventri...	OMIM:618268
Ramos-Arroyo Syndrome	Severe short stature, Carious teeth, Keratitis, Respiratory distress, Primary microcephaly, Bilat...	ORPHA:1051
Atelosteogenesis, Type I	Depressed nasal bridge, Rhizomelia, Short finger, Vertebral hypoplasia, Fibular aplasia, Microgna...	OMIM:108720
Hydrocephalus, Congenital, 4	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Peroxisome Biogenesis Disorder 1B	Renal cyst, Hyperoxaluria	OMIM:601539
Doors Syndrome	Narrow palate, Aspiration pneumonia, Double outlet right ventricle, Dandy-Walker malformation, Th...	ORPHA:79500
14Q22Q23 Microdeletion Syndrome	Renal hypoplasia	ORPHA:264200
Immunodeficiency 109 With Lymphoproliferation	Bronchiectasis, Recurrent sinusitis	OMIM:620282
Koolen-De Vries Syndrome Due To A Point Mutation	Ventriculomegaly, Cardiomyopathy, Abnormal heart morphology, Ventricular septal defect, Bicuspid ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Ventriculomegaly, Cardiomyopathy, Abnormal heart morphology, Ventricular septal defect, Bicuspid ...	ORPHA:363958
White-Sutton Syndrome	Cerebral cortical atrophy, Cerebellar atrophy, Hypoplasia of the pons, Malar flattening, Sensorin...	ORPHA:468678
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseudo-obstruction...	ORPHA:352665
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseudo-obstruction...	ORPHA:453504
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Depressed nasal bridge, Bulbous nose, Short nose	OMIM:618430
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Igg4-Related Ophthalmic Disease	Keratitis, Abnormality of the sphenoid sinus, Orchitis, Prostatitis, Pancreatitis, Sinusitis, Cho...	ORPHA:449563
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Inflammation of the large intestine, Cerebellar atrophy, Hypoplasia of the pons, Micrognathia, Dy...	OMIM:619708
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Severe short stature, Neonatal short-limb short stature, Micrognathia, Encephalocele, Malar flatt...	OMIM:224400
Osteopetrosis, Autosomal Recessive 5	Ventriculomegaly, Cerebral atrophy, Micrognathia, Microcephaly, Hydrocephalus, Stillbirth, Short ...	OMIM:259720
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Cleft palate, Atrial septal defect, Patent foramen ovale	OMIM:619184
Oromandibular Dystonia	Respiratory distress, Abnormality of the temporomandibular joint, Abnormal mandible morphology	ORPHA:93958
D-Bifunctional Protein Deficiency	Low-set ears, Ventriculomegaly, Cerebellar atrophy, Retrognathia, Hearing impairment, Micrognathi...	OMIM:261515
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Polycystic kidney dysplasia, Abnormal heart morphology	OMIM:214110
White-Sutton Syndrome	Bifid uvula, Patent foramen ovale, Atrial septal defect, High palate, Patent ductus arteriosus, C...	OMIM:616364
Lathosterolosis	Chiari malformation, Hearing impairment, Intrauterine growth retardation, Micrognathia, Microceph...	ORPHA:46059
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Cerebral cortical atrophy, Mandibular prognathia, Micrognathia, Sensorineural hearing impairment,...	OMIM:616007
19Q13.11 Microdeletion Syndrome	Recurrent respiratory infections, Ventricular septal defect	ORPHA:217346
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Atrial septal defect, Cleft palate	ORPHA:2728
Acquired Methemoglobinemia	Respiratory distress, Dyspnea	ORPHA:464453
Oculopharyngodistal Myopathy 1	Respiratory distress, Difficulty walking, Sensorineural hearing impairment, Ataxia, Bowing of the...	OMIM:164310
Nasolacrimal Duct Cyst	Chronic irritative conjunctivitis, Intercostal retractions, Paroxysmal dyspnea, Episodic respirat...	ORPHA:141083
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Pancreatitis, Tubulointerstitial nephritis	OMIM:251000
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Aortic root aneurysm, Atrial septal defect, Submucous cleft hard palate	OMIM:618891
Pancreatic Agenesis 1	Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:260370
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Short distal phalanx of finger, Short nose, Cerebral hemorrhage	OMIM:277450
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Ventricular septal defect	OMIM:620073
Temtamy Preaxial Brachydactyly Syndrome	Hypoplasia of the maxilla, Micrognathia, Short hallux, Short palm, Talon cusp, Short foot, Short ...	ORPHA:363417
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Gastrointesti...	OMIM:187300
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Peripheral pulmonary artery stenosis, Bronchiolitis, Small bowel diver...	ORPHA:90348
Campomelic Dysplasia	Low-set ears, Neonatal short-limb short stature, Carious teeth, Conductive hearing impairment, He...	OMIM:114290
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Renal cyst, Renal dysplasia, Mitral stenosis	OMIM:617260
Geleophysic Dysplasia 1	Aortic valve stenosis, Wide nasal bridge, Joint contracture of the hand, Short metacarpals with r...	OMIM:231050
Combined Oxidative Phosphorylation Deficiency 58	Low-set ears, Cerebellar atrophy, Difficulty walking, Gait ataxia, Microcephaly, Ataxia	OMIM:620451
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Pulmonary hypoplasia, Cholelithiasis, Pancreatic hypoplasia, Hydronephrosis, Hepatomegaly, Perime...	ORPHA:83617
Hughes-Stovin Syndrome	Vasculitis, Pulmonary artery aneurysm, Arterial stenosis	ORPHA:228116
19P13.13 Microdeletion Syndrome	Depressed nasal bridge, Functional abnormality of the gastrointestinal tract, Anteverted nares, M...	ORPHA:357001
Phocomelia, Schinzel Type	High, narrow palate, Finger aplasia, Micromelia, Aplasia/Hypoplasia of the sacrum, Foot oligodact...	ORPHA:2879
Rodrigues Blindness	Protruding ear, Nasal flaring, Short stature	OMIM:268320
Radio-Tartaglia Syndrome	High, narrow palate, High palate, Ventricular septal defect	OMIM:619312
Thauvin-Robinet-Faivre Syndrome	Renal dysplasia, Bifid ureter, Nephroblastoma, Mitral valve prolapse, Ventricular septal defect, ...	OMIM:617107
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Gastroesophageal reflux, Volvulus, Recurrent urinary tract infections, Hydronephrosis, Aganglioni...	ORPHA:847
Immunodeficiency 14B, Autosomal Recessive	Colitis, Inflammation of the large intestine, Recurrent pneumonia, Recurrent sinusitis	OMIM:619281
Cousin Syndrome	Low-set ears, Rhizomelia, Microtia, first degree, Disproportionate short stature, Hearing impairm...	OMIM:260660
Paternal Uniparental Disomy Of Chromosome 6	Ventricular septal defect, Cardiomegaly, Hepatomegaly, Macroglossia, High palate, Patent ductus a...	ORPHA:96191
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
Autoimmune Lymphoproliferative Syndrome, Type Iii	Recurrent upper respiratory tract infections, Recurrent otitis media, Recurrent sinusitis, Membra...	OMIM:615559
Pseudohypoparathyroidism Type 1C	Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures	ORPHA:79444
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Inflammation of the large intestine, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Re...	ORPHA:98813
Cutis Laxa, Autosomal Recessive, Type Iia	Carious teeth, Anteverted nares, Malar flattening, High palate, Short nose	OMIM:219200
Nablus Mask-Like Facial Syndrome	Wide nasal bridge, Depressed nasal bridge, Joint contracture of the hand, Hypoplasia of the maxil...	OMIM:608156
Oculoectodermal Syndrome	Hypertrophic cardiomyopathy, Transient ischemic attack, Coarctation of aorta, Atrial septal defec...	OMIM:600268
Phelan-Mcdermid Syndrome	Ventriculomegaly, High palate, Patent ductus arteriosus, Ventricular septal defect	OMIM:606232
Alexander Disease	Ataxia, Agenesis of corpus callosum, Infectious encephalitis, Gait disturbance, Hydrocephalus, Ma...	ORPHA:58
Distal Deletion 19P	Tricuspid valve prolapse, Pulmonary valve atresia, Cleft palate, Ventricular septal defect	ORPHA:96129
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Prominent antihelix, Lateral ventricle dilatation, Retrognathia, Underdeveloped antitragus, Choro...	ORPHA:293725
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Ventricular septal defect, Narrow palate, Patent ductus arteriosus, Pulmon...	OMIM:277600
Marshall Syndrome	Depressed nasal bridge, Bifid uvula, Macrodontia of permanent maxillary central incisor, Antevert...	OMIM:154780
Cerebrocostomandibular Syndrome	Hydranencephaly, Myelomeningocele, Death in infancy, Ventricular septal defect, Short hard palate...	ORPHA:1393
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Macroglossia, Atrial septal defect	ORPHA:93947
Familial Infantile Myoclonic Epilepsy	Gait disturbance, Cerebellar atrophy, Ataxia	ORPHA:352582
Schneckenbecken Dysplasia	Hypoplastic scapulae, Malar flattening, Short ribs, Limb undergrowth, Short nose, Cleft palate	OMIM:269250
Fetal Hydantoin Syndrome	Depressed nasal ridge, Short distal phalanx of finger, Cleft palate, Short nose	ORPHA:1912
Triosephosphate Isomerase Deficiency	Respiratory distress, Unsteady gait, Cholecystitis, Cerebral atrophy	OMIM:615512
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Increased CSF lactate	OMIM:615595
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Hepatosplenomegaly, Splenomegaly, Abnormal lymphatic vessel morphology, Lymp...	ORPHA:464329
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Cerebellar atrophy, Progressive cerebellar ataxia	OMIM:618868
Codas Syndrome	Ventriculomegaly, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect,...	OMIM:600373
Chromosome 1P36 Deletion Syndrome, Distal	Bifid uvula, Dilated cardiomyopathy, Aortic root aneurysm, Lateral ventricle dilatation, Abnormal...	OMIM:607872
Arachnoid Cyst	Enlarged fossa interpeduncularis, Chiari malformation, Inability to walk, Abnormal cerebellum mor...	ORPHA:2356
Townes-Brocks Syndrome 1	Renal hypoplasia, Multicystic kidney dysplasia, Tetralogy of Fallot, Vesicoureteral reflux, Renal...	OMIM:107480
Tetraamelia-Multiple Malformations Syndrome	Micrognathia, Agenesis of corpus callosum, Abnormality of the larynx, Hydrocephalus, Microtia	ORPHA:3301
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Microcephaly, Lateral ventricle dilatation	OMIM:619278
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Unilateral renal agenesis, Hydronephrosis, Abnormal cardiac septum morphology, Single ventricle, ...	OMIM:308050
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose	OMIM:122880
Cryptogenic Organizing Pneumonia	Respiratory distress, Dyspnea	ORPHA:1302
Aceruloplasminemia	Hypochromic microcytic anemia, Elevated hepatic iron concentration, Abnormal pancreas morphology,...	ORPHA:48818
Q Fever	Pneumonia, Hepatitis, Respiratory distress, Osteomyelitis, Cholecystitis, Infectious encephalitis...	ORPHA:781
Stickler Syndrome	Bifid uvula, Depressed nasal ridge, Gastroesophageal reflux, Depressed nasal bridge, Skeletal mus...	ORPHA:828
Cerebellofaciodental Syndrome	Ventriculomegaly, Mitral valve prolapse, Ventricular septal defect	OMIM:616202
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Elevated CSF cholestanol concentration, Cerebral atrophy, Difficulty walking,...	OMIM:213700
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Lateral ventricle dilatation, Death in infancy, Microvesicular hepatic steatosis, Cirrhosis, Atri...	OMIM:300868
Lethal Kniest-Like Dysplasia	Atrial septal defect, Cleft palate	ORPHA:2347
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cerebellar atrophy, Dysmetria	OMIM:619780
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Abnormal liver parenchyma morphology,...	ORPHA:456312
Mucopolysaccharidosis Type 2, Severe Form	Recurrent upper respiratory tract infections, Cardiomyopathy, Abnormal heart valve morphology, He...	ORPHA:217085
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Low-set ears, Communicating hydrocephalus, Ventriculomegaly	OMIM:618188
3Mc Syndrome 1	Ventricular septal defect, Atrial septal defect, Spina bifida occulta, Patent ductus arteriosus, ...	OMIM:257920
Basal Cell Nevus Syndrome 2	Hydrocephalus, Macrocephaly	OMIM:620343
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Congenital Diaphragmatic Hernia	Respiratory distress	ORPHA:2140
Mend Syndrome	Aortic valve stenosis, Abnormal heart morphology, Hydrocephalus, Dandy-Walker malformation, High ...	ORPHA:401973
Arima Syndrome	Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R...	OMIM:243910
Orofaciodigital Syndrome Ii	Hypoplasia of the maxilla, Conductive hearing impairment, Micrognathia, Malar flattening, Agenesi...	OMIM:252100
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Wide nasal bridge, Broad nasal tip, Prominent nasal bridge, Micrognathia, High palate, Short nose	OMIM:300749
Hand-Foot-Genital Syndrome	Miscarriage, Ventricular septal defect	ORPHA:2438
Vascular Ehlers-Danlos Syndrome	Carious teeth, Mitral valve prolapse, Abnormal intestine morphology, Hypospadias, High, narrow pa...	ORPHA:286
Immunodeficiency 70	Colitis, Furuncle, Recurrent sinusitis	OMIM:618969
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal right ventricle morphology, Transient neutropenia, Mitral valve prolapse, Ventricular se...	ORPHA:500095
Immunodeficiency 56	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic hepatitis due to crypto...	OMIM:615207
Pachyonychia Congenita	Respiratory distress, Angular cheilitis, Natal tooth, Advanced eruption of teeth	ORPHA:2309
Fraser Syndrome 1	Renal hypoplasia, Abnormal heart morphology, Renal hypoplasia/aplasia, Micropenis, Hypospadias	OMIM:219000
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Degeneration of anterior horn cells	OMIM:271225
Hajdu-Cheney Syndrome	Intestinal malrotation, Ventricular septal defect, Hydrocephalus, High palate, Patent ductus arte...	OMIM:102500
Tuberous Sclerosis 1	Renal angiomyolipoma, Renal cell carcinoma, Cardiac rhabdomyoma, Renal cyst	OMIM:191100
Mucopolysaccharidosis Type 2, Attenuated Form	Recurrent upper respiratory tract infections, Cardiomyopathy, Abnormal heart valve morphology, He...	ORPHA:217093
Pearson Marrow-Pancreas Syndrome	Hypoplastic anemia, Exocrine pancreatic insufficiency, Sideroblastic anemia, Pancytopenia, Villou...	OMIM:557000
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventriculomegaly, Annular pancreas, Duodenal atresia, Furrowed tongue, Patent foramen ovale, Vent...	OMIM:616975
Cornelia De Lange Syndrome	Multicystic kidney dysplasia, Small hand, Micrognathia, Congenital diaphragmatic hernia, Ventricu...	ORPHA:199
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Micrognathia, Cerebellar atrophy, Cerebral atrophy	OMIM:616266
3Q29 Microduplication Syndrome	High palate, Ectopic anus, Cleft palate, Ventricular septal defect	ORPHA:251038
Lateral Meningocele Syndrome	High, narrow palate, High palate, Meningocele, Ventricular septal defect	ORPHA:2789
Alveolar Echinococcosis	Abnormal pericardium morphology, Hepatic cysts, Abnormal bladder morphology, Renal cyst, Pancreat...	ORPHA:284
Hypotonia, Ataxia, And Delayed Development Syndrome	Low-set ears, Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Gait ataxia, Dy...	OMIM:617330
Ataxia-Oculomotor Apraxia 4	Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Ataxia	OMIM:616267
Mpdu1-Cdg	Ventriculomegaly, Eczematoid dermatitis, Prominent frontal sinuses	ORPHA:79323
Paroxysmal Nocturnal Hemoglobinuria	Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Decreased circulating iron concen...	ORPHA:447
Aymé-Gripp Syndrome	Low-set ears, Cerebral cortical atrophy, Ventriculomegaly, Postnatal growth retardation, Sensorin...	ORPHA:1272
Hereditary Hemorrhagic Telangiectasia	Epistaxis, Gastrointestinal hemorrhage, Arteriovenous malformation, Abnormal cerebral vascular mo...	ORPHA:774
Nocardiosis	Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Respiratory distress, Osteomyelitis, Infe...	ORPHA:31204
Dubowitz Syndrome	Eczematoid dermatitis, Hearing impairment, Delayed eruption of teeth, Low-set, posteriorly rotate...	ORPHA:235
Proximal Spinal Muscular Atrophy	Recurrent infections due to aspiration, Recurrent aspiration pneumonia, Atrial septal defect	ORPHA:70
Charcot-Marie-Tooth Disease Type 4C	Cerebellar atrophy, Difficulty walking, Inability to walk, Gait ataxia, Hypoventilation, Sensorin...	ORPHA:99949
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Bifid uvula, Atrioventricular canal defect, Submucous cleft hard palate, Ventricular septal defec...	ORPHA:3047
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Hydronephrosis, Anal atresia, Urethral atresia, Pulmonary hypoplasia	OMIM:271520
Multiple Endocrine Neoplasia Type 1	Hypercalcemia	ORPHA:652
Microphthalmia, Lenz Type	Hydronephrosis, Hypospadias, Hydroureter, Renal hypoplasia/aplasia	ORPHA:568
Glycogen Storage Disease Ib	Inflammation of the large intestine, Splenomegaly, Pancreatitis, Pancreatic fibrosis, Neutropenia...	OMIM:232220
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Broad-based gait, Respiratory distress, Loss of ambulation, Ataxia, Short stature, Osteomyelitis ...	OMIM:256810
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus, Waddling gait, Micrognathia, Neonatal death	OMIM:620351
Tuberous Sclerosis 2	Cardiac rhabdomyoma, Renal angiomyolipoma, Renal cyst, Renal cell carcinoma, Absence of renal cor...	OMIM:613254
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst, Pancreatic cysts	OMIM:208500
Mitochondrial Dna-Associated Leigh Syndrome	Increased CSF lactate, Apnea, Gait ataxia, Sensorineural hearing impairment, Episodic respiratory...	ORPHA:255210
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Intrauterine growth retardation, Mi...	ORPHA:2050
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Atrial septal defect, Thrombocytopenia	ORPHA:457351
Hypomagnesemia 3, Renal	Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi...	OMIM:248250
Larsen Syndrome	Ventricular septal defect, Aortic aneurysm, Atrial septal defect, Spina bifida occulta, Cleft palate	OMIM:150250
Bardet-Biedl Syndrome	Chronic kidney disease, Hepatic fibrosis, Inflammation of the large intestine, Nephrotic syndrome...	ORPHA:110
Rothmund-Thomson Syndrome, Type 2	Depressed nasal bridge, Small hand, Mandibular prognathia, Delayed eruption of teeth, Anteriorly ...	OMIM:268400
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydronephrosis, Abnormality of the upper urinary tract, Transient ischemic attack, Hydroureter	ORPHA:2995
Cutis Laxa, Autosomal Recessive, Type Iid	Hypertrophic cardiomyopathy, Pneumothorax, Atrial septal defect, Hypoplastic right heart, Ascendi...	OMIM:617403
Coffin-Siris Syndrome 1	Renal hypoplasia, Hydroureter, Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Ec...	OMIM:135900
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Meier-Gorlin Syndrome 1	Low-set ears, Hypoplasia of the maxilla, Atresia of the external auditory canal, Hearing impairme...	OMIM:224690
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:617866
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Hydrocephalus	OMIM:601794
Tropical Calcific Pancreatitis	Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas	OMIM:608189
Osteogenesis Imperfecta	Arterial dissection, Ventriculomegaly, Aortic root aneurysm, Aortic dissection, Mitral valve prol...	ORPHA:666
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Duplicated collecting system, Anal stenosis, Xerostomia, Ureterocele, Anteriorly placed anus, Hyd...	OMIM:604292
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Ventriculomegaly, Decreased CSF 5-hydroxyindolacetic acid concentration, Cerebellar atrophy, Decr...	ORPHA:404454
White-Kernohan Syndrome	Depressed nasal bridge, Gastroesophageal reflux, Hydroureter, Retrognathia, Anteriorly placed anu...	OMIM:619426
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress	ORPHA:226313
Agammaglobulinemia 10, Autosomal Dominant	Recurrent sinusitis	OMIM:619707
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Tachypnea	OMIM:237310
Beemer-Ertbruggen Syndrome	Low-set, posteriorly rotated ears, Communicating hydrocephalus, Micrognathia	ORPHA:1237
Skin Creases, Congenital Symmetric Circumferential, 1	Low-set ears, Cerebellar vermis atrophy, Micrognathia, Microcephaly, Overfolded helix, Posteriorl...	OMIM:156610
Distal Deletion 9P	High, narrow palate, Wide nasal bridge, Short nose, Hypospadias, Cleft palate	ORPHA:1642
Congenital Disorder Of Deglycosylation 1	Low-set ears, Decreased CSF 5-hydroxyindolacetic acid concentration, Decreased CSF albumin concen...	OMIM:615273
Dyskeratosis Congenita, Autosomal Recessive 8	Intrauterine growth retardation, Inflammation of the large intestine, Cerebellar atrophy, Pancolitis	OMIM:620133
Al-Gazali Syndrome	Hydronephrosis, Recurrent pneumonia	OMIM:609465
Aicardi Syndrome	Cerebellar vermis hypoplasia, Recurrent pneumonia, Dilated third ventricle, Chiari malformation, ...	OMIM:304050
Lujo Hemorrhagic Fever	Pharyngitis, Respiratory distress, Skin rash, Maculopapular exanthema, Myocarditis, Rhinitis, Ful...	ORPHA:319213
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Depressed nasal bridge, Malar flattening, Carpal bone hypoplasia, Short fourth metatarsal, Short ...	OMIM:616723
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Micropenis, Renal hypoplasia	OMIM:619321
Craniofacial Microsomia 1	Tetralogy of Fallot, Right aortic arch, Ventricular septal defect, Coarctation of aorta, Patent d...	OMIM:164210
Monosomy 9Q22.3	Low-set ears, Ventriculomegaly, Chiari malformation, Delayed eruption of teeth, Thickened ears, H...	ORPHA:77301
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short distal phalanx of finger, Micrognathia, Aplasia/Hypoplasia of the clavicles, Calcinosis, Co...	ORPHA:90154
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Nephroblastoma	ORPHA:1001
Holoprosencephaly 7	Hypoplasia of the premaxilla, Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of ...	OMIM:610828
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Celiac Disease, Susceptibility To, 1	Hypocalcemia	OMIM:212750
Mietens Syndrome	Wide nasal bridge, Hypoplasia of the ulna, Hypoplasia of the radius, Short nose, Wide nose	ORPHA:2557
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Atrial septal defect, Dysphagia, Short nose, Hypoplasia of the maxilla, Gastroesophageal reflux, ...	ORPHA:500150
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:620558
Combined Oxidative Phosphorylation Deficiency 15	Increased CSF lactate, Ventricular septal hypertrophy, Ventricular septal defect	OMIM:614947
Difference Of Sex Development-Intellectual Disability Syndrome	Hypoplasia of penis, Short nose	ORPHA:2983
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Cohen Syndrome	High, narrow palate, Aplasia/Hypoplasia of the tongue, Mitral valve prolapse, Ventricular septal ...	ORPHA:193
Autosomal Recessive Spastic Paraplegia Type 35	Cerebral cortical atrophy, Cerebellar atrophy, Difficulty walking, Pontocerebellar atrophy, Dysme...	ORPHA:171629
Tuberous Sclerosis Complex	Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Cardiac rhabdomyoma,...	ORPHA:805
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Ventriculomegaly, Hypoplastic aortic arch, Hydrocephalus	ORPHA:457284
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Ayme-Gripp Syndrome	Wide nasal bridge, Depressed nasal bridge, Craniofacial asymmetry, Malar flattening, Camptodactyl...	OMIM:601088
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Narrow palate, Ventricular septal defect, Ascending aortic dissection, Hig...	OMIM:608328
Cutis Laxa, Autosomal Recessive, Type Iic	Biventricular hypertrophy, Median cleft palate, Patent foramen ovale, Mitral valve prolapse, Pneu...	OMIM:617402
Atypical Werner Syndrome	Aortic valve stenosis, Aortic valve calcification, Skeletal muscle atrophy, Glycosuria, Abnormal ...	ORPHA:79474
Faciodigitogenital Syndrome, Autosomal Recessive	Dental malocclusion, Anteverted nares, Prominent nasal bridge, Trismus, High palate, Camptodactyl...	OMIM:227330
Von Hippel-Lindau Syndrome	Epididymal cyst, Pancreatic cysts, Multiple renal cysts, Renal cell carcinoma	OMIM:193300
Cockayne Syndrome B	Severe short stature, Abnormal auditory evoked potentials, Carious teeth, Dental malocclusion, Ce...	OMIM:133540
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Pneumonia, Atopic dermatitis, Cerebellar atrophy, Hepatitis, Cerebral atrophy...	OMIM:615846
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Contractures of the large joints, Micrognathia, Hypomimic face, High palate, Dysphagia, Short nose	OMIM:617527
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Duplicated collecting system, Xerostomia, Ureterocele, Hydroureter, Renal agenesis, Recurrent res...	OMIM:129900
Robinow Syndrome, Autosomal Dominant 1	Small hand, Micrognathia, Short hard palate, High palate, Short nose, Short middle phalanx of the...	OMIM:180700
Autosomal Recessive Spastic Paraplegia Type 11	Cerebral cortical atrophy, Lateral ventricle dilatation, Inability to walk, Frontal cortical atro...	ORPHA:2822
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Cerebellar atrophy, Sensorineural hearing impairment, Ataxia, Short stature, Dysdiadochokinesis	OMIM:612780
Noonan Syndrome 1	High, narrow palate, Chylothorax, Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, ...	OMIM:163950
Plague	Inflammation of the large intestine, Lymphadenitis, Hearing impairment, Chapped lip, Pharyngitis,...	ORPHA:707
Occipital Horn Syndrome	Ureteral obstruction, Carotid artery tortuosity, Hiatus hernia, Hydronephrosis, Bladder diverticu...	OMIM:304150
Yunis-Varon Syndrome	High, narrow palate, Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Ventricular sept...	ORPHA:3472
Andersen Cardiodysrhythmic Periodic Paralysis	Low-set ears, Hypoplasia of the maxilla, Persistence of primary teeth, Micrognathia, Malar flatte...	OMIM:170390
Autosomal Dominant Robinow Syndrome	High, narrow palate, Abnormal penis morphology, Wide nasal bridge, Depressed nasal bridge, Retrog...	ORPHA:3107
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Renal cyst, Pancreatic cysts, Polycystic kidney dysplasia	OMIM:610199
2Q31.1 Microdeletion Syndrome	Ventriculomegaly, Atrial septal defect, Cleft palate, Ventricular septal defect	ORPHA:251014
Iniencephaly	Low-set ears, Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Hydrocephalus, Mand...	ORPHA:63259
Mosaic Trisomy 8	Hydronephrosis, High palate, Vesicoureteral reflux, Cleft palate	ORPHA:96061
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia	OMIM:613091
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Cholestasis, Villous atrophy, Microvesicular hepatic steatosis...	OMIM:619377
Hereditary Angioedema Type 1	Respiratory distress, Laryngeal edema, Dyspnea, Pharyngeal edema, Abnormal epiglottis morphology	ORPHA:100050
Joubert Syndrome 1	Nephropathy, Renal cyst	OMIM:213300
Vacterl With Hydrocephalus	Microtia, third degree, Retrognathia, Anotia, Intrauterine growth retardation, Micrognathia, Hydr...	ORPHA:3412
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Low-set, posteriorly rotated ears, Difficulty walkin...	ORPHA:457359
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Depressed nasal ridge, Recurrent pneumonia, Depressed nasal bridge, Hypoplasia of the odontoid pr...	OMIM:271665
Pallister-Hall Syndrome	Natal tooth, Ventricular septal defect, Atrial septal defect, Anal atresia, Ectopic kidney, Hypos...	ORPHA:672
Combined Oxidative Phosphorylation Deficiency 37	Secondary microcephaly, Cerebellar atrophy, Cerebellar hypoplasia, Sensorineural hearing impairment	OMIM:618329
Pseudohypoparathyroidism Type 1A	Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures	ORPHA:79443
21Q22.11Q22.12 Microdeletion Syndrome	Anemia, Atrial septal defect, Thrombocytopenia	ORPHA:261323
Glomuvenous Malformation	Abnormal renal morphology, Venous malformation, Arteriovenous malformation, Gastrointestinal arte...	ORPHA:83454
Gerstmann-Straussler Disease	Gait ataxia, Truncal ataxia, Limb ataxia, Cerebellar atrophy	OMIM:137440
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Low-set ears, Cerebellar vermis hypoplasia, Ventriculomegaly, Hearing impairment, Respiratory dis...	ORPHA:480880
Cystic Fibrosis	Recurrent pneumonia, Pancreatitis, Bronchiectasis, Chronic sinusitis	OMIM:219700
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Secondary microcephaly, Growth delay, Cerebellar atrophy	ORPHA:485421
Atelosteogenesis Type I	Malrotation of colon, Cleft palate, Abnormal pancreatic duct morphology	ORPHA:1190
Distal Deletion 6P	Ventriculomegaly, Atrial septal defect	ORPHA:96125
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Wide nasal bridge, Bifid uvula, Recurrent pneumonia, Broad nasal tip, Recurrent bronchitis, Malar...	OMIM:620330
Trichothiodystrophy 1, Photosensitive	Flexion contracture, Retrognathia, Intestinal obstruction, Short nose	OMIM:601675
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anomalous origin of left subclavian artery, Gastroesophageal reflux, Aspiration pneumonia, Abnorm...	ORPHA:438213
Cystic Fibrosis	Bronchiectasis, Hearing impairment, Sinusitis	ORPHA:586
Bardet-Biedl Syndrome 20	Elevated circulating hepatic transaminase concentration, Pancreatitis, Atrial septal defect	OMIM:619471
Holoprosencephaly 9	Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Prominent antihelix, Dental malocclusion...	OMIM:610829
Melnick-Needles Syndrome	Ureteral stenosis, Mitral valve prolapse, Hydronephrosis, Tricuspid valve prolapse, Recurrent res...	OMIM:309350
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Gastroesophageal reflux, Prominent nasal tip, Progressive flexion contractures, Atrial septal def...	ORPHA:522077
Basal Cell Nevus Syndrome 1	Cardiac rhabdomyoma, Cardiac fibroma, Hydrocephalus, Spina bifida, Hamartomatous stomach polyps, ...	OMIM:109400
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Patent ductus arteriosus, Cleft palate, Ventricular septal defect	OMIM:106260
Chromosome 17P13.1 Deletion Syndrome	Diffuse cerebral atrophy, Microcephaly, Hydrocephalus, Spina bifida, Posteriorly rotated ears	OMIM:613776
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Tetralogy of Fallot, Overriding aorta, Holoprosencephaly, Absent gallbladder	ORPHA:3186
Dystonia 1, Torsion, Autosomal Dominant	Inability to walk, Cerebellar atrophy	OMIM:128100
Nicolaides-Baraitser Syndrome	High, narrow palate, Wide nasal base, Bulbous nose, Narrow nasal bridge, Anteverted nares, Coarct...	OMIM:601358
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Abnormality of the ureter, Anteverted nares, Aganglionic megacolon, Sh...	ORPHA:3339
Renal Agenesis	Pulmonary hypoplasia, Anal atresia, Ventricular septal defect	ORPHA:411709
Supernumerary Nostril	Abnormality of ethmoid sinus	ORPHA:141096
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Pancytopenia, Ventricular septal defect, Anemia, Reticulocytopenia, ...	OMIM:227645
Spinocerebellar Ataxia-Dysmorphism Syndrome	Anteverted nares, Short nose	ORPHA:1185
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Renal hypoplasia, Recurrent urinary tract infections	OMIM:617157
Foix-Alajouanine Syndrome	Functional abnormality of the bladder, Urinary retention, Venous malformation, Neurogenic bladder...	ORPHA:79093
Cerebrocostomandibular Syndrome	Anal stenosis, Anteriorly placed anus, Cleft soft palate, Ventricular septal defect, Short hard p...	OMIM:117650
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short stature, Microcephaly, Cerebellar atrophy, Lateral ventricle dilatation	OMIM:618367
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Gait ataxia, Dysmetria, Dysdiadochokinesis	OMIM:610217
Neurodegeneration With Brain Iron Accumulation 4	Cerebellar atrophy, Neurodegeneration, Loss of ambulation, Gait disturbance, Ataxia	OMIM:614298
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Short stature, Communicating hydrocephalus, Micrognathia	ORPHA:1064
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Unilateral renal hypoplasia	OMIM:619950
Monosomy 9P	Choanal atresia, Depressed nasal bridge, Anteverted nares, Micrognathia, Ureteropelvic junction o...	ORPHA:261112
Spondyloocular Syndrome	Duodenal ulcer, Atrial septal defect, Mitral valve prolapse, Dysplastic aortic valve	OMIM:605822
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	High, narrow palate, Ventriculomegaly, Elevated circulating hepatic transaminase concentration, S...	OMIM:619475
15q26 overgrowth syndrome	Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro...	DECIPHER:81
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Renal hypoplasia, Hydronephrosis, Renal cyst, Hypoplasia of penis, Urethrovaginal fistula	ORPHA:93271
Neuroblastoma	Respiratory distress, Antalgic gait, Ataxia	ORPHA:635
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormal cerebral vascular morphology, Abnormal venous morphology, Abnormality of the lymphatic s...	ORPHA:276280
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Opitz Gbbb Syndrome	Rectourethral fistula, Ventricular septal defect, Anal atresia, High palate, Cleft palate	OMIM:300000
Warburg Micro Syndrome 2	Micropenis, Flexion contracture, Prominent nasal bridge, Short nose	OMIM:614225
Myhre Syndrome	Aortic valve stenosis, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Per...	OMIM:139210
Autosomal Recessive Spastic Paraplegia Type 20	Dysuria, Hydronephrosis, Dysphagia	ORPHA:101000
Magel2-Related Prader-Willi-Like Syndrome	Ventriculomegaly, Recurrent respiratory infections, Xerostomia, Atrial septal defect	ORPHA:398069
Spondylocarpotarsal Synostosis Syndrome	Broad nasal tip, Hypoplasia of the odontoid process, Failure of eruption of permanent teeth, Ante...	OMIM:272460
Mosaic Monosomy X	Hypoplastic left heart, Arterial dissection, Hepatic fibrosis, Cholestatic liver disease, Biliary...	ORPHA:99228
Monosomy X	Hypoplastic left heart, Arterial dissection, Hepatic fibrosis, Cholestatic liver disease, Biliary...	ORPHA:99226
Turner Syndrome	Hypoplastic left heart, Arterial dissection, Hepatic fibrosis, Cholestatic liver disease, Biliary...	ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies	Hypoplastic left heart, Arterial dissection, Hepatic fibrosis, Cholestatic liver disease, Biliary...	ORPHA:99413
Distal Deletion 3P	Atrioventricular canal defect	ORPHA:1620
Wolf-Hirschhorn Syndrome	Accessory spleen, Malrotation of small bowel, Ventriculomegaly, Biliary tract abnormality, Ventri...	OMIM:194190
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Secondary microcephaly, Cerebellar atrophy	OMIM:619685
Sarcoidosis	Hypercalcemia	ORPHA:797
Telangiectasia, Hereditary Hemorrhagic, Type 2	Hematochezia, Tongue telangiectasia, Cerebral hemorrhage, Transient ischemic attack, Ischemic str...	OMIM:600376
Genitourinary And/Or Brain Malformation Syndrome	Low-set ears, Chiari malformation, Secondary microcephaly, Micrognathia, Agenesis of corpus callo...	OMIM:618820
Frontometaphyseal Dysplasia	Bifid uvula, Abnormal heart morphology, Ureteral obstruction, Hydronephrosis, Cleft palate, Ureth...	ORPHA:1826
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Ataxia, Cerebellar atrophy, Sensorineural hearing impairment	OMIM:604121
Knobloch Syndrome 1	Bifid ureter, Renal duplication, Hydronephrosis, Duplicated collecting system, Patent ductus arte...	OMIM:267750
3-Methylglutaconic Aciduria, Type Viia	Secondary microcephaly, Cerebellar atrophy	OMIM:619835
Ehlers-Danlos Syndrome, Vascular Type	Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Emphysema, Dilatation of the cerebral arte...	OMIM:130050
Congenital Disorder Of Glycosylation, Type Iia	Protruding tongue, Ventricular septal defect	OMIM:212066
Ehlers-Danlos Syndrome, Classic Type, 1	Recurrent sinusitis, Osteoarthritis, Short stature, Narrow maxilla, Lop ear	OMIM:130000
Fraser Syndrome 3	Low-set ears, Micrognathia, Simple ear, Hydrocephalus, Stillbirth	OMIM:617667
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Acute kidney injury, Nephronophthisis, Stage 5 chronic kidney disease, Reduced renal corticomedul...	OMIM:266920
Craniopharyngioma	Hearing impairment, Postnatal growth retardation, Proportionate short stature, Delayed puberty, H...	ORPHA:54595
Sturge-Weber Syndrome	Cerebral cortical atrophy, Chiari malformation, Hydrocephalus, Macrocephaly	ORPHA:3205
Lacrimoauriculodentodigital Syndrome	Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux	ORPHA:2363
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Anteriorly placed anus, Hamartoma of tongue, Ventricular septal defect, ...	OMIM:615948
6Q Terminal Deletion Syndrome	Low-set, posteriorly rotated ears, Micrognathia, Gait ataxia, Dysmetria, Cerebellar hypoplasia, C...	ORPHA:75857
Genitopatellar Syndrome	Malrotation of small bowel, Anal stenosis, Multicystic kidney dysplasia, Anteriorly placed anus, ...	OMIM:606170
Argininemia	Spastic gait, Postnatal growth retardation, Cerebellar atrophy	OMIM:207800
Weaver Syndrome	Ventriculomegaly, Retrognathia, Lateral ventricle dilatation, Cerebellar hypoplasia, Macrocephaly...	OMIM:277590
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Limb ataxia, Gait ataxia, Pontocerebellar atrophy, Progressive gait ataxia	OMIM:606002
Meckel Syndrome 14	Polycystic kidney dysplasia, Single ventricle	OMIM:619879
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Biliary tract abnormality, Ventricular septal defect, Atrial septal defect, Fro...	OMIM:268300
Rabson-Mendenhall Syndrome	Cardiomyopathy, Furrowed tongue, Ventricular septal defect, Atrial septal defect, Macroglossia, H...	ORPHA:769
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Unilateral renal agenesis, Choanal atresia, Gastroesophageal reflux, Depress...	ORPHA:95699
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Urolithiasis, Renal insufficiency, Hyperuricosuria, Convex nasal ridge, U...	OMIM:300661
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Cleft palate, Ventricular septal defect	OMIM:178110
Tbck-Related Intellectual Disability Syndrome	High, narrow palate, Ventriculomegaly, Ventricular septal defect, Macroglossia, Pulmonic stenosis	ORPHA:488632
Lipodystrophy, Familial Partial, Type 7	Spontaneous pneumothorax, Lower limb muscle weakness, Pleural effusion, Pulmonary arteriovenous m...	OMIM:606721
Sponastrime Dysplasia	Mesomelia, Depressed nasal bridge, Recurrent pneumonia, Rhizomelia, Mandibular prognathia, Short ...	ORPHA:93357
Clapo Syndrome	Venous malformation, Lymphangioma, Varicose veins	ORPHA:168984
Ulbright-Hodes Syndrome	Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:3404
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress	ORPHA:367
Complement Factor I Deficiency	Recurrent otitis media, Pyelonephritis, Recurrent sinusitis, Glomerulonephritis, Septic arthritis...	OMIM:610984
Campomelic Dysplasia	Hydronephrosis, Cleft palate	ORPHA:140
Witteveen-Kolk Syndrome	Flared nostrils, Small hand, Male urethral meatus stenosis, Hyperplasia of the maxilla, Congenita...	OMIM:613406
Bent Bone Dysplasia Syndrome 2	Hepatomegaly, Atrial septal defect	OMIM:620076
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Ventriculomegaly, Occipital encephalocele, Communicating hydrocephalus, Agenesis of corpus callos...	OMIM:615287
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, High palate, Pulmon...	OMIM:607721
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Hydronephrosis, Macroglossia	ORPHA:254528
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Cerebellar vermis atrophy, Gait imbalance, Choreoathetosis, Ataxia	ORPHA:64753
Congenital Disorder Of Glycosylation, Type If	Renal cortical cysts	OMIM:609180
Cerebrotendinous Xanthomatosis	Abnormal auditory evoked potentials, Cerebellar atrophy, Global brain atrophy, Myelopathy, Abnorm...	ORPHA:909
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Atrioventricular canal defect, Coarctation of aorta, Patent ductus arteriosus	OMIM:619480
Chondrodysplasia Punctata 2, X-Linked Dominant	Hydronephrosis	OMIM:302960
Turnpenny-Fry Syndrome	Carotid artery tortuosity, Mitral valve prolapse, Tricuspid valve prolapse, Atrial septal defect,...	OMIM:618371
Peters-Plus Syndrome	Renal hypoplasia, Ventricular septal defect, Hydronephrosis, Atrial septal defect, Ureteral dupli...	OMIM:261540
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Depressed nasal bridge, Rhizomelia, Bulbous nose, Anteverted nares, Malar flattening, Short nose,...	OMIM:271510
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Increased CSF protein concentration, Cerebellar atrophy, Cerebral atrophy, Cerebral cortical neur...	OMIM:203700
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Volvulus, Intestinal malrotation, Ventricular septal defect, Hiatus hernia, Cerebral hemorrhage, ...	OMIM:616682
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Eczematoid dermatitis, Respiratory distress, Colitis, Eryth...	ORPHA:3260
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Atrioventricular canal defect, Coarctation of aorta, Patent ductus arteriosus	OMIM:617088
Menke-Hennekam Syndrome 1	Depressed nasal ridge, Recurrent upper respiratory tract infections, Gastroesophageal reflux, Dep...	OMIM:618332
Livedoid Vasculopathy	Polycythemia, Pancytopenia, Ischemic stroke, Leukocytosis, Venous insufficiency, Anemia, Varicose...	ORPHA:542643
Molybdenum Cofactor Deficiency, Type A	Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine level, Decreas...	OMIM:252150
Orofaciodigital Syndrome Type 14	Dilated third ventricle, Hamartoma of tongue, Dilated fourth ventricle, Ventricular septal defect...	ORPHA:434179
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Cardiomyopathy, Renal cortical cysts, Vesicoureteral reflux, Nephroblastoma, Ne...	OMIM:130650
Chromosome 13Q14 Deletion Syndrome	High palate, Holoprosencephaly, Patent foramen ovale, Ventricular septal defect	OMIM:613884
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Ankyloglossia, Cleft palate, Annular pancreas, Abnormal morphology of the great vessels	ORPHA:488642
Holoprosencephaly 3	Hydronephrosis, Bifid uvula, Cleft palate	OMIM:142945
Wiedemann-Steiner Syndrome	Wide nasal bridge, Rhizomelia, Gastroesophageal reflux, Aplasia/Hypoplasia of the ribs, High pala...	ORPHA:319182
Pallister-Killian Syndrome	Aortic valve stenosis, Small hand, Micrognathia, Congenital diaphragmatic hernia, Ventricular sep...	OMIM:601803
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Depressed nasal bridge, Malar flattening, Short nose, Camptodactyly, Cleft palate	OMIM:601353
Sotos Syndrome	Small cell lung carcinoma, Gastroesophageal reflux, Renal agenesis, Abnormal heart morphology, Re...	ORPHA:821
Von Hippel-Lindau Disease	Cardiomyopathy, Elevated urinary catecholamine level, Multiple renal cysts, Renal cell carcinoma,...	ORPHA:892
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Mosaic Trisomy 20	Dysplastic tricuspid valve, Cleft palate, Abnormal mitral valve morphology, Ventricular septal de...	ORPHA:1724
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Depressed nasal bridge, Small hand, Broad nasal tip, Skeletal muscle atrophy, Bulbous nose, Micro...	OMIM:309590
Cartilage-Hair Hypoplasia	Hypocalcemia	ORPHA:175
Eec Syndrome	Xerostomia, Vesicoureteral reflux, Renal hypoplasia/aplasia, Hydronephrosis, Urethral atresia, Hy...	ORPHA:1896
Fragile X-Associated Tremor/Ataxia Syndrome	Diffuse cerebellar atrophy, Cerebral cortical atrophy, Gait ataxia, Dysmetria, Gait disturbance, ...	ORPHA:93256
Intellectual Developmental Disorder, Autosomal Dominant 42	Ureteropelvic junction obstruction, Hydronephrosis, Neurogenic bladder, High palate, Dysphagia, C...	OMIM:616973
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	High palate, Ventricular septal defect	OMIM:614653
Lenz-Majewski Hyperostotic Dwarfism	Severe short stature, Facial hyperostosis, Abnormal dental enamel morphology, Agenesis of corpus ...	ORPHA:2658
Full Nf2-Related Schwannomatosis	Myelopathy, Abnormal cerebellum morphology, Sensorineural hearing impairment, Tinnitus, Hydroceph...	ORPHA:637
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Choreoathetosis, Ataxia	ORPHA:2131
Microphthalmia, Syndromic 3	Esophageal atresia, Patent ductus arteriosus, Ventricular septal defect	OMIM:206900
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Cerebral cortical atrophy, Lateral ventricle dilatation, Neuronal loss in central nervous system	OMIM:607485
Deeah Syndrome	Retrognathia, Hepatomegaly, Prominent nasal tip, High palate, Micropenis, Narrow palate, Dysphagi...	OMIM:619004
Otopalatodigital Syndrome, Type Ii	Hydrocephalus, Atrial septal defect, Stillbirth, Spina bifida, Dilatation of the sinus of Valsalv...	OMIM:304120
Mend Syndrome	Aortic valve stenosis, High palate, Hydrocephalus, Dandy-Walker malformation	OMIM:300960
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Recurrent sinusitis	OMIM:617765
Monosomy 22Q13.3	Dental malocclusion, Hearing impairment, Recurrent pyelonephritis, Malar flattening, Agenesis of ...	ORPHA:48652
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Micropenis, Renal hypoplasia, Vesicoureteral reflux, Hypospadias	OMIM:309580
Coffin-Siris Syndrome 12	Elevated circulating hepatic transaminase concentration, Velopharyngeal insufficiency, Tetralogy ...	OMIM:619325
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Ventricular septal defect	OMIM:609460
Gorlin Syndrome	Hydrocephalus, Cardiac fibroma	ORPHA:377
Autosomal Recessive Faciodigitogenital Syndrome	Anteverted nares, Micrognathia, Prominent nasal bridge, High palate, Short foot, Short nose	ORPHA:1974
C Syndrome	Depressed nasal bridge, Multicystic kidney dysplasia, Micromelia, Horseshoe kidney, Anteverted na...	ORPHA:1308
Osteopetrosis With Renal Tubular Acidosis	Distal renal tubular acidosis, Renal tubular acidosis, Nephrolithiasis, Hydronephrosis, Proximal ...	ORPHA:2785
9Q33.3Q34.11 Microdeletion Syndrome	Low-set ears, Cerebellar vermis atrophy, Inability to walk, Esophagitis, Microcephaly, Abnormal p...	ORPHA:495818
Joubert Syndrome 5	Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu...	OMIM:610188
Agammaglobulinemia, X-Linked	Recurrent pneumonia, Bronchiectasis, Hearing impairment, Recurrent otitis media, Pyoderma, Recurr...	OMIM:300755
Gabriele-De Vries Syndrome	Oral-pharyngeal dysphagia, Ureteropelvic junction obstruction, Patent foramen ovale, Hydronephros...	ORPHA:506358
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Ventriculomegaly, Prominent antihelix, Conductive hearing impairment, Sensorineural hearing impai...	ORPHA:466943
Noonan Syndrome 14	Low-set ears, Short stature, Posteriorly rotated ears, Lateral ventricle dilatation	OMIM:619745
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Low-set ears, Ventriculomegaly, Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation...	OMIM:619479
Cntnap2-Related Developmental And Epileptic Encephalopathy	Intermittent hyperventilation, Cerebellar vermis atrophy, Ataxia	ORPHA:163681
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia	OMIM:613658
Autosomal Recessive Polycystic Kidney Disease	Hepatic fibrosis, Periportal fibrosis, Protein-losing enteropathy, Cholestasis, Hepatosplenomegal...	ORPHA:731
Baller-Gerold Syndrome	Bifid uvula, Rectovaginal fistula, Anteriorly placed anus, Abnormal heart morphology, Perineal fi...	OMIM:218600
Functioning Gonadotropic Adenoma	Delayed puberty, Hydrocephalus	ORPHA:91348
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Low-set ears, Cerebral cortical atrophy, Microcephaly, Hydrocephalus, Macrotia	OMIM:277400
Spinocerebellar Ataxia Type 7	Cerebellar atrophy, Cerebral atrophy, Dysmetria, Ataxia, Dysdiadochokinesis	ORPHA:94147
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hyperkalemia, Hypocalcemia	ORPHA:544482
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent pneumonia, Lymphadenitis, Recurrent otitis media, Recurrent sinusitis, Bronchiectasis	OMIM:618986
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Hypoplasia of the maxilla, Eczematoid dermatitis, Respiratory distress, Taurodontia, Rhinitis	OMIM:305100
Cerebrofaciothoracic Dysplasia	Wide nose, Cleft palate, Short nose	ORPHA:1394
Restrictive Dermopathy 1	Submucous cleft hard palate, Neonatal death, Atrial septal defect, Stillbirth, Patent ductus arte...	OMIM:275210
Cocaine Intoxication	Respiratory distress, Colitis, Tachypnea, Glomerulonephritis, Tubulointerstitial nephritis, Hyper...	ORPHA:90068
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Gait ataxia, Unsteady gait, Cerebellar atrophy	OMIM:254900
Mayer-Rokitansky-Küster-Hauser Syndrome	Atrial septal defect, Pulmonic stenosis	ORPHA:3109
Gitelman Syndrome	Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia	ORPHA:358
Oculocerebral Hypopigmentation Syndrome, Cross Type	Depressed nasal bridge, Anteverted nares, Ureteral stenosis, Short nose	ORPHA:2719
Beckwith-Wiedemann Syndrome	Polycythemia, Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Cryptorchidism, Ps...	ORPHA:116
Acrorenal-Mandibular Syndrome	Abnormality of the ureter, Polycystic kidney dysplasia, Renal agenesis, Aplasia of the bladder	OMIM:200980
Molybdenum Cofactor Deficiency, Type B	Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine level, Xanthin...	OMIM:252160
Frontofacionasal Dysplasia	Bifid uvula, Hypoplasia of the frontal bone, Underdeveloped nasal alae, Midline defect of the nos...	OMIM:229400
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Secondary microcephaly, Lateral ventricle dilatation	ORPHA:2148
Coffin-Lowry Syndrome	Thick nasal septum, Broad columella, Dental malocclusion, Thick nasal alae, Anteverted nares, Sho...	OMIM:303600
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Neonatal death, Ataxia, Tubulointerstit...	OMIM:124000
Sepsis In Premature Infants	Dyspnea, Nasal flaring, Enterocolitis	ORPHA:90051
Aspartylglucosaminuria	Wide nasal bridge, Carious teeth, Aspartylglucosaminuria, Splenomegaly, Hepatomegaly, Macroglossi...	ORPHA:93
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microglossia, Exaggerated median tongue furrow, Submucous cleft soft palate, Ventricular septal d...	OMIM:608670
Intellectual Developmental Disorder, Autosomal Dominant 73	Low-set ears, Cerebellar vermis hypoplasia, Conductive hearing impairment, Retrognathia, Tip-toe ...	OMIM:620450
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Occipital Horn Syndrome	High, narrow palate, Gastroesophageal reflux, Hepatitis, Recurrent urinary tract infections, Chol...	ORPHA:198
Microcephalic osteodysplastic primordial dwarfism, type III	Severe short stature, Cerebellar atrophy, Intrauterine growth retardation, Micrognathia, Microcep...	OMIM:210730
Toxic Epidermal Necrolysis	Respiratory distress, Conjunctivitis, Pancreatitis	ORPHA:537
Acromesomelic Dysplasia 1	Short toe, Short metacarpal, Hypoplasia of the radius, Short metatarsal, Acromesomelia, Short nose	OMIM:602875
Hemorrhagic Fever-Renal Syndrome	Pneumonia, Dyspnea, Respiratory distress, Glomerulonephritis, Tubulointerstitial nephritis, Acute...	ORPHA:340
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Natal tooth, Recurrent otitis media, Agenesis of corpus callosum, Synovitis, Ataxia...	ORPHA:3455
Shwachman-Diamond Syndrome 1	Respiratory distress, Short stature	OMIM:260400
Chilton-Okur-Chung Neurodevelopmental Syndrome	Low-set ears, Cerebellar vermis hypoplasia, Recurrent otitis media, Agenesis of incisor, Intraute...	OMIM:619841
Goodpasture Syndrome	Increased blood urea nitrogen	OMIM:233450
Multiple Mitochondrial Dysfunctions Syndrome 7	Partial atrioventricular canal defect	OMIM:620423
Menkes Disease	Gastrointestinal hemorrhage, Arterial stenosis, Venous insufficiency, Bladder diverticulum, Vascu...	ORPHA:565
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Ventriculomegaly, Cerebellar dysplasia, Micrognathia, Malar flattening, Cerebellar hypoplasia, Mi...	OMIM:253280
Caroli Disease	Polycystic kidney dysplasia	ORPHA:53035
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Pneumonia, Inflammatory abnormality of the skin, Keratitis, Pharyngitis, Respiratory distress, Sk...	ORPHA:95455
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Mandibular prognathia	OMIM:620278
Hennekam Syndrome	Hypocalcemia	ORPHA:2136
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Cleft palate, Submucous cleft soft palate, Submucous cleft hard palate, Ventricular septal defect	ORPHA:1071
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Ureterocele, Short nose	OMIM:614863
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, High palate, Cleft palate	OMIM:271640
Oculocerebrorenal Syndrome Of Lowe	Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Renal insufficiency, Nephrolithiasis, Hematu...	ORPHA:534
Proboscis Lateralis	Abnormality of the maxillary sinus, Ventriculomegaly, Abnormal facial skeleton morphology, Abnorm...	ORPHA:141099
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus, Retrognathia	ORPHA:2736
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Leukemia, Chylothorax, Pleural effusion, Atrial septal defect	ORPHA:2526
Fetal Akinesia Deformation Sequence 1	Low-set ears, Intrauterine growth retardation, Micrognathia, Cerebellar hypoplasia, Hydrocephalus...	OMIM:208150
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Conductive hearing impairment, Gait disturbance, Hydrocephalus, Short stature, Calcification of t...	ORPHA:3042
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Hydronephrosis, Moderate albuminuria	OMIM:619269
Dend Syndrome	Anteverted nares, Short nose	ORPHA:79134
Hypoplasminogenemia	Dandy-Walker malformation, Periodontitis, Hydrocephalus, Cervicitis	ORPHA:722
Diphallia	Duplicated colon, Abnormal heart morphology, Atrial septal defect, Rectoperineal fistula, Anal at...	ORPHA:227
Spondyloenchondrodysplasia With Immune Dysregulation	Low-set ears, Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Recurrent sinusitis, Juven...	OMIM:607944
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Displacement of the urethral meatus	ORPHA:1556
Microphthalmia, Syndromic 6	Renal hypoplasia	OMIM:607932
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Cerebellar atrophy	OMIM:610131
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Psoria...	ORPHA:293978
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia	ORPHA:93325
Cranioectodermal Dysplasia 1	Hypocalcemia	OMIM:218330
1P21.3 Microdeletion Syndrome	Micrognathia, Broad nasal tip, Short nose	ORPHA:293948
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic valve stenosis, Ventricular hypertrophy, Mitral stenosis, Ventricular septal defect, High ...	OMIM:143095
Focal Dermal Hypoplasia	Low-set ears, Dental malocclusion, Delayed eruption of teeth, Chiari malformation, Myelomeningoce...	OMIM:305600
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth, Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:300952
Microphthalmia With Limb Anomalies	Death in infancy, Venous insufficiency, Hydrocephalus, High palate, Cleft palate	ORPHA:1106
Orofaciodigital Syndrome Type 2	Atrioventricular canal defect, Central retinal vessel vascular tortuosity	ORPHA:2751
Congenital Disorder Of Glycosylation, Type Iim	Lateral ventricle dilatation, Cerebral atrophy, Intrauterine growth retardation, Cerebellar hypop...	OMIM:300896
Meningioma	Difficulty walking, Abnormal cerebellum morphology, Tinnitus, Hydrocephalus, Ataxia	ORPHA:2495
Neurofibromatosis, Type I	Hydrocephalus, Spina bifida, Macrocephaly, Short stature, Aqueductal stenosis	OMIM:162200
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Colpocephaly, Enlarged cerebellum, Macrocephaly	ORPHA:477993
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Bifid uvula, Abnormality of the urinary system, Hydroureter, Submucous cleft hard palate, Hydrone...	ORPHA:2636
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Episodic ataxia, Diffuse cerebral atrophy, Microcephaly, Choreoathetosis	ORPHA:1934
Pituitary Deficiency Due To Rathke Cleft Cysts	Abnormality of the sphenoid sinus, Hydrocephalus	ORPHA:91350
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Conjunctivitis, Bronchiectasis	OMIM:601495
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Ataxia, Eczematoid dermatitis, Recurrent otitis media, Skin rash, Recurrent sinusitis, Hashimoto ...	OMIM:615688
Keppen-Lubinsky Syndrome	Microcephaly, Recurrent pneumonia, Micrognathia, Lateral ventricle dilatation	OMIM:614098
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas, Cleft palate	ORPHA:97297
Stüve-Wiedemann Syndrome	Respiratory distress, Intrauterine growth retardation, Apnea, Trismus, Short stature	ORPHA:3206
Microphthalmia, Syndromic 1	Renal hypoplasia, Hydroureter, Renal hypoplasia/aplasia, Bicuspid aortic valve, Hypospadias	OMIM:309800
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Perioral eczema, Recurrent aphthous stomatitis, Colitis, Recurrent sinusitis	OMIM:613960
Caroli Syndrome	Polycystic kidney dysplasia, Abnormality of the kidney	ORPHA:480520
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Intrauterine growth retardation	OMIM:617156
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Renal cyst, Hypospadias	ORPHA:495875
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Renal cortical cysts, Vesicoureteral reflux	OMIM:618548
Hypermobile Ehlers-Danlos Syndrome	Arterial dissection, High, narrow palate, Aortic root aneurysm, Mitral valve prolapse, Venous ins...	ORPHA:285
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hydroureter, Hydronephrosis, Aganglionic megacolon, Abnormality of the upper urinary tract, Abnor...	ORPHA:2273
Neurofibromatosis Type 1	Ataxia, Hearing impairment, Delayed puberty, Hydrocephalus, Macrocephaly, Short stature	ORPHA:636
Bone Marrow Failure Syndrome 6	Recurrent sinusitis	OMIM:618849
Mesomelia-Synostoses Syndrome	Hydronephrosis, Absent uvula	OMIM:600383
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Isolated Arrhinia	Respiratory distress, Microtia	ORPHA:1134
Roberts Syndrome	Long penis, Polycystic kidney dysplasia	ORPHA:3103
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Atrial septal defect	OMIM:250220
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect	OMIM:619727
Niemann-Pick Disease Type C	Hearing impairment, Cerebral atrophy, Aspiration pneumonia, Cerebellar vermis atrophy, Progressiv...	ORPHA:646
Metaphyseal Dysplasia, Braun-Tinschert Type	Advanced pneumatization of cranial sinuses	ORPHA:85188
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent upper respiratory tract infections, Ventriculomegaly, Death in childhood, Death in infa...	OMIM:308205
Kasabach-Merritt Phenomenon	Respiratory distress, Hypopnea	ORPHA:2330
Sacral Defect With Anterior Meningocele	Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract	OMIM:600145
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Proteasome-Associated Autoinflammatory Syndrome 1	Recurrent upper respiratory tract infections, Parotitis, Recurrent otitis media, Episcleritis, Re...	OMIM:256040
Choreoacanthocytosis	Cerebral cortical atrophy, Temporomandibular joint crepitus, Lateral ventricle dilatation, Falls,...	ORPHA:2388
Proteus Syndrome	Enlarged polycystic ovaries, Renal cyst, Long penis, Enlarged kidney	ORPHA:744
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Microcephaly, Macrotia	OMIM:614748
Ulnar-Mammary Syndrome	Pyloric stenosis, Anal atresia, Anal stenosis, Ventricular septal defect	OMIM:181450
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
Autosomal Dominant Optic Atrophy And Cataract	Unsteady gait, Cerebellar atrophy, Ataxia	ORPHA:67036
Branchiooculofacial Syndrome	Renal cyst, Hypospadias, Renal agenesis	OMIM:113620
Yunis-Varon Syndrome	Cardiomyopathy, Aspiration pneumonia, Tetralogy of Fallot, Patent foramen ovale, Ventricular sept...	OMIM:216340
Pmm2-Cdg	Cerebellar vermis hypoplasia, Retrognathia, Aspiration pneumonia, Respiratory distress, Cerebella...	ORPHA:79318
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Recurrent pneumonia, Recurrent upper respiratory tract infec...	OMIM:301000
Generalized Arterial Calcification Of Infancy	Conductive hearing impairment, Hearing impairment, Stapes ankylosis, Respiratory distress, Sensor...	ORPHA:51608
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dilation of Virchow-Robin spaces, Retinal arteriolar tortuosity, Ischemic stroke, Hydrocephalus, ...	OMIM:175780
Alström Syndrome	Recurrent pneumonia, Recurrent upper respiratory tract infections, Progressive sensorineural hear...	ORPHA:64
Nelson Syndrome	Abnormality of the sphenoid sinus	ORPHA:199244
17Q11 Microdeletion Syndrome	Low-set ears, Abnormality of the sphenoid sinus, Intrauterine growth retardation, Delayed puberty...	ORPHA:97685
Cancer-Associated Retinopathy	Diffuse cerebellar atrophy	ORPHA:71505
Norrie Disease	Venous insufficiency	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.

Order Mouse and ES Cells

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Dnah5 MGI:107718

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Adult LacZ

X-ray

Human diseases caused by Dnah5 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.1 Data