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Gene: Jag1 MGI:1095416

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

jagged 1

Synonyms:

ABE2, Htu, Serrate-1, Headturner, Gsfabe2, Ozz

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Jag1 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 Jag1 (5 diseases)
Human diseases predicted to be associated with Jag1 (2657 diseases)

The table below shows human diseases associated to Jag1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Alagille Syndrome 1	Long nose, Microcornea, Atrial septal defect, Abnormal anterior chamber morphology, Depressed nas...	OMIM:118450
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Posterior embryotoxon	OMIM:617992
Tetralogy Of Fallot	Intrauterine growth retardation, Tetralogy of Fallot	ORPHA:3303
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired pain sensation, Impaired distal vibration sensation, Impaired temperature sensation, Dys...	OMIM:619574
Tetralogy Of Fallot	Tetralogy of Fallot	OMIM:187500

The table below shows human diseases predicted to be associated to Jag1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608631
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300425
Microphthalmia, Isolated, With Coloboma 7	Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Deafness, Autosomal Recessive 108	Iris coloboma	OMIM:617654
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Iris coloboma, Chorioretinal coloboma	OMIM:616428
Loose Anagen Syndrome	Iris coloboma	ORPHA:168
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy	Punctate corneal dystrophy	OMIM:183850
Corneal Dystrophy, Band-Shaped	Band-shaped corneal dystrophy	OMIM:217500
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Corneal Dystrophy, Lisch Epithelial	Corneal dystrophy	OMIM:300778
Deafness, Autosomal Dominant 85	Sensorineural hearing impairment, Cochlear nerve hypoplasia	OMIM:620227
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju...	OMIM:619868
Autism	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:607373
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Parasomnia, Sleep Bruxism Type	Bruxism	OMIM:606840
Aneurysm, Intracranial Berry, 12	Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial...	OMIM:618734
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Yemenite Deaf-Blind Hypopigmentation Syndrome	Microcornea, Iris coloboma, Chorioretinal coloboma	OMIM:601706
Chorea, Childhood-Onset, With Psychomotor Retardation	Abnormal head movements, Chorea	OMIM:616939
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Biemond Syndrome Ii	Iris coloboma	OMIM:210350
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Aneurysm, Intracranial Berry, 1	Intracranial hemorrhage, Dilatation of the cerebral artery	OMIM:105800
Aneurysm, Intracranial Berry, 2	Subarachnoid hemorrhage, Cerebral berry aneurysm	OMIM:608542
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase...	OMIM:613752
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju...	OMIM:620010
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Klippel-Feil Syndrome 3, Autosomal Dominant	Iris coloboma, Chorioretinal coloboma	OMIM:613702
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Internal Carotid Absence	Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage	ORPHA:981
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Intellectual Developmental Disorder With Autism And Speech Delay	Abnormal repetitive mannerisms	OMIM:606053
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom...	ORPHA:231736
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Iris coloboma	ORPHA:139450
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Ocular anterior segment dysgenesis, Iris coloboma, Coloboma, Peters anomaly	OMIM:610023
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Cataract, Failure to thrive in infancy, Elevated circulating alanine aminotransfera...	OMIM:618805
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:613812
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Morquio Syndrome C	Corneal opacity	OMIM:252300
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300495
Cornea Plana 1, Autosomal Dominant	Flat cornea	OMIM:121400
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Diarrhea 13	Elevated hepatic transaminase, Secretory diarrhea, Hypoalbuminemia, Vomiting, Failure to thrive, ...	OMIM:620357
Intellectual Developmental Disorder, Autosomal Recessive 58	Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior	OMIM:617270
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Abnormal repetitive mannerisms, Agitation, Aggressive behavior	OMIM:617171
Rotor Syndrome	Abnormal circulating enzyme concentration or activity, Conjugated hyperbilirubinemia, Conjunctiva...	ORPHA:3111
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Edinburgh Malformation Syndrome	Jaundice, Failure to thrive, Neonatal hyperbilirubinemia	OMIM:129850
Corneal Dystrophy, Epithelial Basement Membrane	Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions	OMIM:121820
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Anteverted nares, Elevated circulating aspartate aminotr...	OMIM:618528
Crigler-Najjar Syndrome Type 1	Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n...	ORPHA:79234
Microphthalmia, Syndromic 13	Microcornea, Iris coloboma, Chorioretinal coloboma	OMIM:300915
Galactosemia Iv	Cataract, Hypergalactosemia, Prolonged neonatal jaundice	OMIM:618881
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma	ORPHA:1473
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Galactosialidosis	Corneal opacity	ORPHA:351
Cat-Eye Syndrome (Type I)	Iris coloboma	DECIPHER:42
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Cataract, Ventricular septal defect, Elevated circulating aspartate aminotransferas...	OMIM:614876
Galactosemia Ii	Cataract, Hypergalactosemia, Prolonged neonatal jaundice	OMIM:230200
Kahrizi Syndrome	Cataract, Iris coloboma	OMIM:612713
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions	OMIM:217800
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Corneal Dystrophy, Lattice Type I	Lattice corneal dystrophy, Recurrent corneal erosions	OMIM:122200
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Microphthalmia, Isolated, With Coloboma 5	Iris coloboma, Chorioretinal coloboma	OMIM:611638
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality	OMIM:237500
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Cog7-Cdg	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea...	ORPHA:79333
Spinocerebellar Ataxia, Autosomal Recessive 3	Ataxia, Cochlear degeneration, Hearing impairment	OMIM:271250
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Cerebral Cavernous Malformations 2	Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia	OMIM:603284
Facial Spasm	Anisocoria	OMIM:134300
Cerebral Amyloid Angiopathy, Cst3-Related	Intracranial hemorrhage, Stroke, Cerebral hemorrhage	OMIM:105150
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet	Posterior corneal stroma punctiform multicolored opacities	OMIM:619871
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity	ORPHA:2432
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration	ORPHA:3233
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Vomiting, Hypergalac...	OMIM:230350
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Retinal coloboma, Iris coloboma, Chorioretinal coloboma	ORPHA:2921
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Abnormal ci...	ORPHA:79303
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Secundum atrial septal defect, Elevated circu...	OMIM:614300
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Cerebral Cavernous Malformations	Intracranial hemorrhage, Cerebral cavernous malformation	OMIM:116860
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608636
Macrophthalmia, Colobomatous, With Microcornea	Flat cornea, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorioretinal coloboma, ...	OMIM:602499
Neonatal Hemochromatosis	Anteverted nares, Prominent nose, Congenital hepatic fibrosis, Increased circulating ferritin con...	ORPHA:446
Citrullinemia, Type Ii, Neonatal-Onset	Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st...	OMIM:605814
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Microcornea, Iris coloboma	OMIM:615147
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s...	OMIM:619897
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic...	OMIM:235555
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple...	ORPHA:30391
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:79235
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ...	OMIM:616278
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Increased total bil...	ORPHA:890
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili...	ORPHA:567983
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Microcoria, Congenital	Microcoria, Hypoplasia of the iris dilator muscle	OMIM:156600
Hypercholanemia, Familial, 2	Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged neonatal jaun...	OMIM:619256
Abetal34V Amyloidosis	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324703
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Cryptorchidism, Diarrhea, Elevated circulating creatinine concentration, Cholestasi...	OMIM:608104
Galactose Epimerase Deficiency	Hepatomegaly, Cataract, Splenomegaly, Jaundice, Weight loss, Growth delay	ORPHA:79238
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Conjuga...	OMIM:617093
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia	OMIM:606664
Circumvallate Placenta Syndrome	Intracranial hemorrhage	OMIM:215550
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice,...	ORPHA:79301
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia, Jaundice	OMIM:237450
Alg6-Cdg	Abnormal circulating enzyme concentration or activity, Jaundice, Decreased LDL cholesterol concen...	ORPHA:79320
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Failure to thrive	ORPHA:172
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Jaundice, Familial Obstructive, Of Infancy	Jaundice, Neonatal hyperbilirubinemia	OMIM:308600
Crigler-Najjar Syndrome, Type Ii	Jaundice, Unconjugated hyperbilirubinemia	OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia, Jaundice	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Jaundice, Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,...	ORPHA:79319
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic...	OMIM:214900
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Crigler-Najjar Syndrome, Type I	Jaundice, Unconjugated hyperbilirubinemia	OMIM:218800
Lambert Syndrome	Ventricular septal defect, Failure to thrive in infancy, Jaundice, Cholestasis, Intrahepatic bili...	ORPHA:1296
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hyponatremia, Short stature, ...	ORPHA:1667
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ...	OMIM:613027
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Chronic d...	OMIM:619484
Gilbert Syndrome	Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia	OMIM:143500
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Familial Cervical Artery Dissection	Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral...	ORPHA:36382
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Iris coloboma, Ectopia lentis	ORPHA:1259
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal...	OMIM:180500
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Short stature, Conjugat...	OMIM:211600
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae	OMIM:615877
Isolated Growth Hormone Deficiency, Type Ia	Growth delay, Severe short stature, Depressed nasal ridge, Prolonged neonatal jaundice	OMIM:262400
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice...	ORPHA:858
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ...	OMIM:607765
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasi...	OMIM:601847
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Depressed nasal bridge, Elevated circulating aspartate aminotransferase concentrati...	OMIM:614887
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Chorioretinal hyperpigmentation, Bile duct proliferation, Macroves...	OMIM:618329
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Keratoconus, Decreased circulating ceruloplasmin concentration, De...	OMIM:242150
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Short stature, Prominent nose, Elevated circulating long chain fat...	OMIM:614886
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Buphthalmos, Chorioretinal coloboma, Iris coloboma	OMIM:212550
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Uveitis, Microcor...	OMIM:221900
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology	ORPHA:101082
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci...	OMIM:214950
Hepatoportal Sclerosis	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera...	ORPHA:64743
Cerebral Cavernous Malformations 3	Cerebral cavernous malformation, Cerebral hemorrhage	OMIM:603285
Cholangiocarcinoma	Biliary tract neoplasm, Jaundice, Acholic stools	ORPHA:70567
Winchester Syndrome	Corneal opacity	OMIM:277950
Congenital Rubella Syndrome	Hepatomegaly, Cataract, Corneal opacity, Ventricular septal defect, Short stature, Splenomegaly, ...	ORPHA:290
Hyperbilirubinemia, Shunt, Primary	Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia	OMIM:237800
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Elevated cir...	OMIM:251880
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Caroli Disease	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-gluta...	ORPHA:53035
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms	OMIM:620033
Congenital Factor V Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:326
Bilateral Striopallidodentate Calcinosis	Corneal opacity	ORPHA:1980
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated hepatic transaminase, Increased serum pyruvate, Small for gestational age, Episodic vomi...	OMIM:615160
Factor Xiii, A Subunit, Deficiency Of	Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ...	OMIM:613225
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618709
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Ventricular septa...	OMIM:208085
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Reversible Cerebral Vasoconstriction Syndrome	Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub...	ORPHA:284388
Cat-Eye Syndrome	Iris coloboma, Chorioretinal coloboma	ORPHA:195
Opticocochleodentate Degeneration	Optic atrophy, Cochlear degeneration, Hearing impairment	OMIM:258700
Autism, Susceptibility To, 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608049
Liver Failure, Infantile, Transient	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato...	OMIM:613070
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Dilated card...	ORPHA:367
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor...	ORPHA:400
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Hyperprolinemia, Type I	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:239500
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser...	OMIM:231100
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Chronic diarrhea, Weight loss, Acholic stools, Cholestat...	ORPHA:65682
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Coats Disease	Leukocoria	OMIM:300216
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu...	ORPHA:88618
Humero-Radial Synostosis	Iris coloboma, Chorioretinal coloboma	ORPHA:3265
Factor Vii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su...	OMIM:227500
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti...	ORPHA:3002
Abruzzo-Erickson Syndrome	Microcornea, Coloboma, Iris coloboma, Chorioretinal coloboma	ORPHA:921
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas,...	ORPHA:2924
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Pallor, Supraventricula...	ORPHA:90064
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Woolly Hair	Abnormal pupil morphology, Cataract	ORPHA:170
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Guanidinoacetate Methyltransferase Deficiency	Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Self-injurious behav...	ORPHA:382
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Microphthalmia, Isolated, With Coloboma 9	Macular coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenesis, Iris coloboma	OMIM:615145
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619232
Abeta Amyloidosis, Italian Type	Stroke, Cerebral hemorrhage	ORPHA:324713
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Coloboma, Hypoplastic iris ...	ORPHA:2334
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Hypertyrosinemia, Failure to thrive, Conjugated hyperbilirubinemia...	OMIM:617156
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Diarrhea, Steatorrhea, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Hepatic failur...	OMIM:602579
X-Linked Recessive Ocular Albinism	Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation	ORPHA:54
Developmental And Epileptic Encephalopathy 30	Abnormal repetitive mannerisms	OMIM:616341
Deafness, Autosomal Dominant 9	Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment...	OMIM:601369
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia	OMIM:613886
Autoinflammation With Infantile Enterocolitis	Short stature, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased cir...	OMIM:616050
N-Acetylaspartate Deficiency	Abnormal repetitive mannerisms, Self-mutilation	OMIM:614063
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Alg1-Cdg	Chronic diarrhea, Abnormal heart morphology, Cardiomyopathy, Hypoalbuminemia, Decreased liver fun...	ORPHA:79327
Abeta Amyloidosis, Iowa Type	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324708
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Iris coloboma	OMIM:155145
Pendred Syndrome	Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of th...	ORPHA:705
Meckel Syndrome, Type 4	Ventricular septal defect, Bile duct proliferation, Atrial septal defect, Microphthalmia, Intraut...	OMIM:611134
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Hypoalbuminemia, Obesity, Cardiomegaly	ORPHA:88643
Alg2-Cdg	Cataract, Iris coloboma	ORPHA:79326
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Cholestasis, Intrahepatic, Of Pregnancy, 1	Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ...	OMIM:147480
Afibrinogenemia, Congenital	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ...	OMIM:202400
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Con...	OMIM:613404
Diarrhea 7, Protein-Losing Enteropathy Type	Hyperlipidemia, Diarrhea, Hypoalbuminemia, Vomiting, Hypercholesterolemia, Failure to thrive	OMIM:615863
Hypomelanosis Of Ito	Cataract, Iris coloboma	OMIM:300337
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Weight loss, Rhinitis, Hypoalbuminemia	ORPHA:507
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Diarrhea, Cirrhosis, Hypercholesterol...	ORPHA:75234
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Decreased HDL cholesterol...	ORPHA:247585
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Short stature, Hepatosplenomegaly, Hypoalbum...	OMIM:619013
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Ectopia pupillae, Astigmatism, Cataract	OMIM:618727
Developmental And Epileptic Encephalopathy 58	Abnormal repetitive mannerisms	OMIM:617830
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen...	OMIM:603552
Mirizzi Syndrome	Elevated hepatic transaminase, Nausea, Pancreatitis, Jaundice, Elevated circulating alkaline phos...	ORPHA:521219
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania...	OMIM:273800
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Lambert Syndrome	Jaundice, Intrahepatic biliary atresia	OMIM:245550
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Atrial septal defect, Pate...	OMIM:301068
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Elevated circulating alkaline phosphatase concentration, Polycystic liver disease, Increased tota...	OMIM:174050
Cholestasis, Progressive Familial Intrahepatic, 5	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Elevated circul...	OMIM:617049
Woolly Hair Nevus	Heterochromia iridis, Persistent pupillary membrane	ORPHA:79414
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
Joint Laxity, Short Stature, And Myopia	Iris coloboma, Chorioretinal coloboma	OMIM:617662
Infantile Sialic Acid Storage Disease	Hepatomegaly, Anteverted nares, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Failur...	OMIM:269920
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circula...	OMIM:605479
Cerebral Amyloid Angiopathy, App-Related	Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he...	OMIM:605714
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology	OMIM:160565
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Recurrent hand flapping, Abnormal repetitive mannerisms, Dysphagia	OMIM:617862
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, H...	OMIM:614480
Galloway-Mowat Syndrome 6	Anteverted nares, Decreased response to growth hormone stimulation test, Short stature, Growth de...	OMIM:618347
Trichohepatoenteric Syndrome 1	Depressed nasal ridge, Hepatic fibrosis, Hypoalbuminemia, Intractable diarrhea, Hepatomegaly, Ant...	OMIM:222470
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri...	ORPHA:67043
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Hijazi-Reis Syndrome	Astigmatism, Iris coloboma	OMIM:301094
Primary Dystonia, Dyt13 Type	Abnormal repetitive mannerisms, Jerky head movements	ORPHA:98807
Congenital Hydrocephalus	Iris coloboma	ORPHA:2185
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism	OMIM:619150
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipi...	ORPHA:1414
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Spondylo-Ocular Syndrome	Cataract, Aplasia/Hypoplasia of the lens, Ventricular septal defect, Short stature, Disproportion...	ORPHA:85194
Benign Paroxysmal Torticollis Of Infancy	Abnormal head movements, Vertigo, Ataxia	ORPHA:71518
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Jaundice, Diarrhea, Vomiting, Constipation, Cutaneous photosensitivity	OMIM:121300
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int...	OMIM:243300
Dubin-Johnson Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ...	ORPHA:234
Cholestasis, Intrahepatic, Of Pregnancy 3	Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice, Increased ser...	OMIM:614972
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Portal hypertension, Conjugated hyperbilirubinemia, Jau...	ORPHA:186
Laurence-Moon Syndrome	Cataract, Iris coloboma	ORPHA:2377
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa...	OMIM:267700
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Reticuloendotheliosis, X-Linked	Jaundice, Hepatosplenomegaly	OMIM:312500
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Harderoporphyria	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Vomiting, Prolonged neo...	OMIM:618892
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Malformation of the hepatic ductal plate...	OMIM:208540
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615282
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Microphthalmia With Brain And Digit Anomalies	Cataract, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma	ORPHA:139471
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi...	OMIM:613670
Pelvis-Shoulder Dysplasia	Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Abnormal pericardium morpho...	ORPHA:67
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm...	ORPHA:562639
Temtamy Syndrome	Iris coloboma, Chorioretinal coloboma	ORPHA:1777
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ...	OMIM:232700
Glycogen Storage Disease Vii	Increased circulating lactate dehydrogenase concentration, Elevated circulating creatine kinase c...	OMIM:232800
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Coloboma, Ectopia pupillae, Corneal opacity, Lens subluxation	ORPHA:85167
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic...	OMIM:616860
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Chylomicron Retention Disease	Diarrhea, Decreased LDL cholesterol concentration, Steatorrhea, Growth delay, Hypoalbuminemia, Hy...	OMIM:246700
Deafness, X-Linked 5, With Peripheral Neuropathy	Abnormal middle ear reflexes, Vertigo, Unsteady gait, Cochlear nerve hypoplasia, Abnormal speech ...	OMIM:300614
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Linear Verrucous Nevus Syndrome	Abnormal cornea morphology, Cataract, Iris coloboma	ORPHA:2611
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Hemophilia A	Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he...	ORPHA:98878
Moderate Hemophilia A	Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den...	ORPHA:169805
Fetal And Neonatal Alloimmune Thrombocytopenia	Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr...	ORPHA:853
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice	OMIM:206400
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea...	ORPHA:26793
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cryptorchidism, Cataract, Tetralogy of Fallot, Aplasia/Hypoplasia of the lens	ORPHA:1381
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increa...	ORPHA:540
Immunodeficiency 27A	Splenomegaly, Diarrhea, Weight loss, Hepatosplenomegaly, Hypoalbuminemia	OMIM:209950
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Hyperbilirubinemia	OMIM:618660
Factor X Deficiency	Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,...	OMIM:227600
Peroxisome Biogenesis Disorder 7A (Zellweger)	Hepatomegaly, Cataract, Elevated circulating hexacosanoic acid concentration, Jaundice, Elevated ...	OMIM:614872
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
7Q31 Microdeletion Syndrome	Hyperactivity, Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-set ears, Dys...	ORPHA:251061
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Small for gestational age, Hypoalbuminemia, Decrease...	OMIM:617021
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:619470
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reduced red cell pyruvate kinase level, Splenomegaly, Jaundice, Cholecystitis, Unco...	OMIM:266200
Ocular Motor Apraxia	Jerky head movements	OMIM:257550
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc...	ORPHA:158057
Glycogen Storage Disease Xii	Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Short stature, Elevated ...	OMIM:611881
Corneal Dystrophy, Congenital Stromal	Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy	OMIM:610048
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,...	ORPHA:79
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea	ORPHA:83461
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu...	OMIM:301045
Congenital Factor Xiii Deficiency	Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h...	ORPHA:331
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Hypertriglyceridemia, Splenomegaly, Ja...	OMIM:603553
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Cataract, Anteverted nares, Splenomegaly, Jaundice, ...	OMIM:251290
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Abnormal repetitive mannerisms, Disinhibition, Dysphagia	OMIM:612069
Primary Sclerosing Cholangitis	Acute hepatic failure, Spider hemangioma, Uveitis, Hepatic fibrosis, Hypoalbuminemia, Neoplasm of...	ORPHA:171
Al Amyloidosis	Gastrointestinal hemorrhage, Hepatomegaly, Increased circulating NT-proBNP concentration, Gastrop...	ORPHA:85443
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Small for gestational age, Abnormality of the pancreas, Jaundice, ...	ORPHA:69665
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Wide nose, Short stature, Elevated circulating aspartate aminotransferase concentra...	OMIM:608779
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Depressed nasal bridge, Ele...	OMIM:232400
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,...	ORPHA:3363
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Fulminant hepa...	OMIM:308240
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Nausea	OMIM:618549
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Subaortic Stenosis-Short Stature Syndrome	Anteverted nares, Short stature, Biliary tract abnormality, Obesity, Membranous subvalvular aorti...	ORPHA:3191
Refractory Celiac Disease	Elevated hepatic transaminase, Elevated alkaline phosphatase of bone origin, Chronic diarrhea, We...	ORPHA:398063
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding...	ORPHA:465
Lipoyltransferase 1 Deficiency	Elevated hepatic transaminase, Hyperglutaminemia, Hyperprolinemia, Decreased liver function, Incr...	OMIM:616299
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Secundum atrial septal defect, Prim...	OMIM:619534
Idiopathic Congenital Hypothyroidism	Constipation, Depressed nasal bridge, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:95717
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Hec Syndrome	Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Meckel Syndrome, Type 7	Portal hypertension, Pancreatic cysts, Situs inversus totalis, Biliary cirrhosis, Cholestasis, He...	OMIM:267010
Gombo Syndrome	Microphthalmia, Delayed puberty, Abnormal heart morphology	OMIM:233270
Familial Afibrinogenemia	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding	ORPHA:98880
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Portal hypertensio...	OMIM:619487
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Ocular anterior segment dysgenesis, Iris coloboma	OMIM:601427
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr...	ORPHA:169802
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Splenomegaly, Elevated transferrin saturation, Increased ...	ORPHA:766
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Patent ductus arter...	ORPHA:60041
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Cryptorchidism, Jaundi...	OMIM:214110
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal dystrophy, Corneal guttata	OMIM:613268
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Acute hepatic failure, Jaundice, Hyperammonemia, Cardiomyopathy, V...	OMIM:616483
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:617820
Erythroderma, Lethal Congenital	Failure to thrive, Hypoalbuminemia	OMIM:227090
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:615541
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Oculoauricular Syndrome	Cataract, Sclerocornea, Chorioretinal atrophy, Developmental cataract, Microcornea, Iris cyst, Po...	OMIM:612109
Congenital Lethal Erythroderma	Urticaria, Failure to thrive, Hypoalbuminemia	ORPHA:1954
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Vomiting, Hypocalcemia, Elevated hepatic ir...	OMIM:619991
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Short stature, Hyperlipidemia, Gr...	ORPHA:369
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Low-set ears, Macrotia, Abnormal re...	OMIM:609425
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Vomiti...	OMIM:277900
Hydroxykynureninuria	Jaundice, Vomiting	OMIM:236800
Congenital Myopathy 11	Elevated hepatic transaminase, Atrial septal defect, Abnormal circulating creatine kinase concent...	OMIM:619967
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Zellweger Syndrome	Hepatomegaly, Failure to thrive, Posterior embryotoxon, Corneal opacity, Cataract, Depressed nasa...	ORPHA:912
Gómez-López-Hernández Syndrome	Corneal opacity	ORPHA:1532
Microphthalmia, Syndromic 12	Anophthalmia, Ventricular septal defect, Broad nasal tip, Cryptorchidism, Hypoplastic left atrium...	OMIM:615524
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Splenomegaly, ...	OMIM:618641
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Immunodeficiency 32B	Splenomegaly, Hepatomegaly, Failure to thrive, Hypoalbuminemia	OMIM:226990
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ...	OMIM:619902
Chronic Bilirubin Encephalopathy	Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Prolonged neonatal jaundi...	ORPHA:529808
Acute Bilirubin Encephalopathy	Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Prolonged neonatal jaundi...	ORPHA:529799
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating creatine kinase concentration, Cardiomegaly, Vomiting, Macrovesicular hepati...	OMIM:608836
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Splenomegaly, Jaundice, Cholecystitis, Hyperbilirubinemia, Cholelithiasis	OMIM:235700
Congenital Pancreatic Cyst	Jaundice, Vomiting, Pancreatitis	ORPHA:313906
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Severe short stature, Prematurely aged appearance, Cachexia, Corne...	OMIM:610965
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele...	ORPHA:100085
Episodic Ataxia Type 4	Abnormal head movements, Vertigo, Ataxia	ORPHA:79136
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul...	OMIM:610717
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Constipation, Prolonged neonatal jaundice, Abnormal circulating th...	ORPHA:95715
O'Donnell-Luria-Rodan Syndrome	Cryptorchidism, Vomiting, Prolonged neonatal jaundice	OMIM:618512
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t...	ORPHA:263479
Alexander Disease	Microcoria	OMIM:203450
Hemophilia B	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join...	ORPHA:98879
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ventricular sep...	OMIM:613759
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Cataract, Ventricular septal defect, Cryptorchidism, Neonatal death, Microphthalmia	OMIM:613730
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Cardiomegal...	ORPHA:14
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea...	ORPHA:2137
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Elevated circulating aspartate aminotransferase concentration, Bilateral cryptorchidism, Intrahep...	OMIM:619685
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Small for gestational age, Slender build, Portal hypertension, Sho...	OMIM:613658
Mulibrey Nanism	Iris coloboma, Astigmatism, Corneal dystrophy	OMIM:253250
Relapsing Fever	Elevated hepatic transaminase, Epistaxis, Elevated circulating C-reactive protein concentration, ...	ORPHA:91547
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Retinal coloboma, Iris coloboma	ORPHA:2791
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Wide nose, Ventricular septal defect, Elevated circu...	OMIM:619525
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Meckel Syndrome, Type 2	Microphthalmia, Bile duct proliferation, Intrauterine growth retardation	OMIM:603194
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
Triple A Syndrome	Iris coloboma	ORPHA:869
Uveal Melanoma	Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis	ORPHA:39044
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Depressed nasal bridge, Pericardial ef...	OMIM:212065
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a...	OMIM:227810
Meckel Syndrome, Type 5	Microphthalmia, Bile duct proliferation	OMIM:611561
Microphthalmia, Isolated, With Cataract 1	Microphthalmia, Cataract	OMIM:156850
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Malaria	Hyperbilirubinemia, Elevated circulating C-reactive protein concentration	ORPHA:673
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper...	ORPHA:136
Alagille Syndrome 1	Long nose, Microcornea, Atrial septal defect, Abnormal anterior chamber morphology, Depressed nas...	OMIM:118450
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology, Pallor	OMIM:606353
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Di...	ORPHA:103910
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Iris coloboma	ORPHA:88630
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go...	OMIM:609734
Familial Thyroid Dyshormonogenesis	Depressed nasal bridge, Constipation, Prolonged neonatal jaundice, Abnormal circulating thyroglob...	ORPHA:95716
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Depressed nasal bridge, Jaundice, Developmental cataract, Vomiting, Neonatal death,...	OMIM:231680
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate	OMIM:607361
Griscelli Syndrome Type 2	Hepatomegaly, Splenomegaly, Jaundice, Hyperlipidemia, Premature graying of hair, Petechiae, Iris ...	ORPHA:79477
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferase level, Atrial septal defect, In...	OMIM:614866
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor	ORPHA:46532
Cataract 47	Microcornea, Cataract	OMIM:612018
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Spherocytosis, Type 1	Splenomegaly, Jaundice, Cholelithiasis, Hyperbilirubinemia	OMIM:182900
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79239
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Chorioretinal dysplasia	OMIM:616335
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Abnormal repetitive man...	OMIM:600795
Frontofacionasal Dysplasia	Cataract, Brushfield spots, Microcornea, Limbal dermoid, Iris coloboma	ORPHA:1791
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Avian Influenza	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu...	ORPHA:454836
Terminal Osseous Dysplasia	Iris coloboma	OMIM:300244
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Impaired proprioception, Impaired vibration sensation in the lower limbs, Limb at...	ORPHA:251282
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Cataract	OMIM:619649
Graft Versus Host Disease	Elevated hepatic transaminase, Jaundice, Diarrhea, Chronic hepatitis, Hepatosplenomegaly, Gastroi...	ORPHA:39812
Hereditary Elliptocytosis	Postnatal growth retardation, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaun...	ORPHA:288
Temtamy Syndrome	Ectopia lentis, Iris coloboma, Chorioretinal coloboma, Lens luxation	OMIM:218340
Developmental And Epileptic Encephalopathy 93	Iris coloboma	OMIM:618012
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Cardiomegal...	ORPHA:57777
Congenital Enterovirus Infection	Pericardial effusion, Myocarditis, Hepatitis, Hyperammonemia, Cholestasis, Cardiomyopathy, Hypoal...	ORPHA:292
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Anteverted nares, Depressed nasal...	OMIM:606812
Cadds	Elevated hepatic transaminase, Cataract, Cholangitis, Cholestasis, Increased circulating very lon...	ORPHA:369942
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Mitchell-Riley Syndrome	Absent gallbladder, Diarrhea, Biliary atresia, Cholestasis, Acholic stools, Hyperbilirubinemia, I...	OMIM:615710
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Anteverted nares, Anterior pituitary hypoplasia, Reduced circulating prolactin concentration, Dep...	OMIM:613038
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Depressed nasal bridge, Cholangitis, Short stature, ...	OMIM:613610
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Dextrocardia, Elevated circulating alpha-fetoprotein concentration, Situs inversus ...	OMIM:613095
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D...	ORPHA:275864
Usher Syndrome Type 3	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia	ORPHA:231183
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Patent foramen ovale...	OMIM:614582
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Cholelithiasis, Cutaneous photosensitivity, Increased erythrocyte ...	OMIM:300752
Phacoanaphylactic Uveitis	Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ...	ORPHA:209959
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Allergic rhinitis, Splenomegaly, Jaundice, Steatorrhea, Failure to thrive, Exocrine...	OMIM:612714
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Microcornea, Anterior synechiae of the anterior chamber, Iris coloboma, Iris hypopigmentation	ORPHA:3214
Anemia, Congenital Dyserythropoietic, Type Ii	Splenomegaly, Jaundice, Cholelithiasis, Reduced level of N-acetylglucosaminyltransferase II	OMIM:224100
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	OMIM:617044
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Small for gestational age, Reduced level of N-acetylglucosaminyltransferase II, Mil...	OMIM:224120
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Jaundice, Constipation, Short stature	ORPHA:2349
Short Syndrome	Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo...	ORPHA:3163
Sneddon Syndrome	Bicuspid aortic valve, Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke	OMIM:182410
Fragile X Syndrome	Abnormal head movements, Hyperactivity, Self-biting, Recurrent hand flapping, Macrotia	OMIM:300624
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Lens subluxation, Microphakia	ORPHA:171844
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:619690
Eosinophilic Gastroenteritis	Allergic rhinitis, Elevated circulating C-reactive protein concentration, Diarrhea, Dysphagia, We...	ORPHA:2070
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysmal burst...	OMIM:618718
17Q21.31 Microduplication Syndrome	Short nose, Failure to thrive, Anteverted nares, Delayed puberty	ORPHA:217340
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Wide nose, Splenomegaly, Wide nasal bridge, Chorioretinal hypopigmentation, Hypoalb...	OMIM:617303
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Depressed nasal bridge, Splenomegaly, Cholestasis, B...	OMIM:261515
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Thyroid Hemiagenesis	Growth delay, Jaundice, Constipation	ORPHA:95719
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro...	ORPHA:90003
Waardenburg Syndrome, Type 2E	Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul...	OMIM:611584
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Depressed nasal ridge, Abnormal intrahepatic bile duct morpholo...	ORPHA:731
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Developmental And Epileptic Encephalopathy 75	Anteverted nares, Wide nasal bridge, Cardiomyopathy, Decreased liver function, Prolonged neonatal...	OMIM:618437
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Short stature, Underdeveloped nasal alae, Elevated amniotic fluid alpha-fetoprotein, Prolonged ne...	ORPHA:423479
Congenital Disorder Of Glycosylation, Type Ij	Elevated hepatic transaminase, Cataract, Cryptorchidism, Jaundice, Hypoproteinemia	OMIM:608093
Branchiootic Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:602588
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Hypercholesterolemia, Cholangitis, Overweight, Intr...	ORPHA:69663
Cyanosis, Transient Neonatal	Hepatomegaly, Jaundice, Cyanosis	OMIM:613977
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ...	ORPHA:131
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Hereditary Spherocytosis	Hepatomegaly, Restrictive cardiomyopathy, Splenomegaly, Jaundice, Growth delay, Hyperbilirubinemi...	ORPHA:822
Griscelli Syndrome	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Hepatitis, Premature graying of hair, Abnorm...	ORPHA:381
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Hyponatremia, Elevated circulating C-reactive protein concentratio...	ORPHA:247353
2Q24 Microdeletion Syndrome	Cataract, Small for gestational age, Abnormality iris morphology, Growth delay, Microphthalmia, F...	ORPHA:1617
Transaldolase Deficiency	Hepatosplenomegaly, Biventricular hypertrophy, Telangiectasia, Abnormal circulating glutamine con...	ORPHA:101028
Xeroderma Pigmentosum, Complementation Group G	Cataract, Small for gestational age, Growth delay, Microphthalmia, Cutaneous photosensitivity	OMIM:278780
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Vomiting, Macro...	OMIM:256810
Mucolipidosis Type Iii	Corneal opacity	ORPHA:577
Pai Syndrome	Iris coloboma	ORPHA:1993
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia	OMIM:614164
Weill-Marchesani Syndrome 3	Short stature, Ectopia lentis, Microspherophakia, Shallow anterior chamber, Pulmonic stenosis, Ao...	OMIM:614819
Renpenning Syndrome	Cataract, Iris coloboma	ORPHA:3242
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In...	ORPHA:99147
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa...	OMIM:613280
Periventricular Nodular Heterotopia 1	Patent ductus arteriosus, Stroke, Bicuspid aortic valve, Cerebral hemorrhage	OMIM:300049
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Alg12-Cdg	Elevated hepatic transaminase, Hyponatremia, Wide nose, Abnormal circulating enzyme concentration...	ORPHA:79324
Brain Small Vessel Disease 2	Intracranial hemorrhage	OMIM:614483
Lathosterolosis	Elevated hepatic transaminase, Cataract, Anteverted nares, Bilobate gallbladder, Intrahepatic cho...	OMIM:607330
Anophthalmia Plus Syndrome	Iris coloboma	ORPHA:1104
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Polycystic liver disease, Pancreatic fibrosis, Short stature, Pancreatic cysts, Conjugated hyperb...	OMIM:208500
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent...	OMIM:613313
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating crea...	OMIM:614576
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Cataract, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyp...	OMIM:608885
Sneddon Syndrome	Intracranial hemorrhage, Hypertension, Arterial stenosis	ORPHA:820
Non-Distal Duplication 10Q	Depressed nasal bridge, Short stature, Cryptorchidism, Short nose, Aplasia/Hypoplasia affecting t...	ORPHA:1695
Mucolipidosis Iv	Corneal opacity, Opacification of the corneal stroma	OMIM:252650
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentration, Conjunctival ...	OMIM:194380
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Pericardial effusion, Chronic diarrhea, Weight loss, Growth delay, Hypoalbum...	ORPHA:90362
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Zika Virus Disease	Lens subluxation, Conjunctivitis, Iris coloboma, Chorioretinal atrophy	ORPHA:448237
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Intestinal obstruction, Diarrhea, Growth delay, Hypoalbuminemia, Vomiting, Hypoprot...	OMIM:226300
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Short nose, Failure to thrive, Cataract	OMIM:618379
Congenital Disorder Of Glycosylation, Type Ii	Cataract, Iris coloboma	OMIM:607906
Adams-Oliver Syndrome 4	Atrial septal defect, Microphthalmia, Ventricular septal defect, Cutis marmorata	OMIM:615297
Prolidase Deficiency	Hepatomegaly, Depressed nasal bridge, Elevated circulating aspartate aminotransferase concentrati...	OMIM:170100
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Corneal opacity, Developmental cataract	OMIM:618815
Nephrotic Syndrome, Type 7	Hypoalbuminemia	OMIM:615008
Snakebite Envenomation	Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Intracranial...	ORPHA:449285
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Familial Atrial Myxoma	Cardiomegaly, Cardiac myxoma, Pulmonic valve myxoma, Jaundice, Cholestasis, Bacterial endocarditis	ORPHA:615
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Prominent nasal bridge, Optic nerve hypoplasia, Bulbous nose, Prolonged n...	OMIM:618828
Usher Syndrome Type 1	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia	ORPHA:231169
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ...	OMIM:175780
Ménétrier Disease	Gastrointestinal hemorrhage, Diarrhea, Weight loss, Gastroesophageal reflux, Hypoalbuminemia, Vom...	ORPHA:2494
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Short stature, Splenomegaly, Weight loss, Hepatosplenomegaly, Hyperbilirubinemia, U...	OMIM:613673
Donnai-Barrow Syndrome	Iris coloboma	ORPHA:2143
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Niemann-Pick Disease, Type A	Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Splen...	OMIM:257200
Cofs Syndrome	Cataract, Short stature, Abnormal nasal morphology, Wide nasal bridge, Microphthalmia, Cutaneous ...	ORPHA:1466
Babesiosis	Hepatomegaly, Splenomegaly, Jaundice, Recurrent pharyngitis, Hepatic failure	ORPHA:108
Codas Syndrome	Cataract, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Short stature, Ext...	ORPHA:1458
Dehydrated Hereditary Stomatocytosis	Increased circulating lactate dehydrogenase concentration, Neonatal hyperbilirubinemia, Portal ve...	ORPHA:3202
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Depressed nas...	OMIM:619418
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Calcinosis, Gastrointestinal hemorrhage, Splenomegal...	OMIM:613471
Gorlin Syndrome	Cataract, Iris coloboma	ORPHA:377
Galactosemia I	Hepatomegaly, Cataract, Elevated circulating aspartate aminotransferase concentration, Diarrhea, ...	OMIM:230400
Dural Sinus Malformation	Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Subdural hemorrh...	ORPHA:97339
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Corneal erosion, Dilated cardiomyopathy, Delayed puberty, Dysphagia, Growth...	ORPHA:89842
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis, Chorioretinal coloboma	OMIM:610688
Crouzon Syndrome	Conjunctivitis, Iris coloboma	ORPHA:207
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Atrial septal defect, Bicuspid aortic valve, Short stature, Growth delay, Decreased serum creatin...	OMIM:617744
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Secretory diarrhea, Cholestasis, Weight loss, Hypokalemia, Port...	OMIM:619377
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Ectopia pupillae	OMIM:618223
Coloboma, Ocular, Autosomal Dominant	Remnants of the hyaloid vascular system, Corneal opacity, Optic disc coloboma, Chorioretinal colo...	OMIM:120200
Distal Duplication 18Q	Iris coloboma	ORPHA:1716
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Iris cyst	OMIM:620086
Hereditary Fructose Intolerance	Hepatomegaly, Cataract, Reduced circulating aldolase concentration, Nausea, Jaundice, Diarrhea, H...	ORPHA:469
Herpes Simplex Virus Stromal Keratitis	Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ...	ORPHA:137599
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather...	ORPHA:280679
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization	ORPHA:163934
Pierpont Syndrome	Wide nose, Short stature, Broad nasal tip, Cryptorchidism, Microcornea, Decreased body weight, Mi...	OMIM:602342
Curry-Jones Syndrome	Optic disc coloboma, Iris coloboma	ORPHA:1553
Wyburn-Mason Syndrome	Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo...	ORPHA:53719
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Ectopia lentis	ORPHA:1068
Dominant Beta-Thalassemia	Hypoparathyroidism, Failure to thrive in infancy, Depressed nasal bridge, Hypersplenism, Splenome...	ORPHA:231226
Rere-Related Neurodevelopmental Syndrome	Astigmatism, Iris coloboma, Chorioretinal coloboma, Peters anomaly	ORPHA:494344
Hyperbiliverdinemia	Cholelithiasis, Elevated circulating biliverdin concentration, Decreased liver function, Cholestasis	OMIM:614156
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Stereotypical hand wringing, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive ...	OMIM:618917
Sickle Cell Anemia	Pigment gallstones, Abnormality of the spleen, Elevated circulating creatinine concentration, Cho...	ORPHA:232
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Short stature, Melena, Increased serum iron, Increased total iron ...	ORPHA:98870
3Q29 Microduplication Syndrome	Aniridia, Cataract, Iris coloboma, Sclerocornea	ORPHA:251038
Alpha-Thalassemia	Hypersplenism, Splenomegaly, Jaundice, Cholelithiasis	ORPHA:846
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Goldberg-Shprintzen Megacolon Syndrome	Iris coloboma	ORPHA:66629
Nephrotic Syndrome, Type 1	Small for gestational age, Hyperlipidemia, Growth delay, Gastroesophageal reflux, Hypoalbuminemia...	OMIM:256300
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Microphthalmia, Failure to thrive, Reduced dihydropyrimidine dehydrogenase level	OMIM:274270
Congenital Disorder Of Glycosylation, Type Iu	Elevated hepatic transaminase, Short nose, Elevated circulating creatine kinase concentration	OMIM:615042
Bardet-Biedl Syndrome 19	Atrial septal defect, Ventricular septal defect, Partial atrioventricular canal defect, Obesity, ...	OMIM:615996
Warburg Micro Syndrome 1	Anteverted nares, Short stature, Cryptorchidism, Wide nasal bridge, Developmental cataract, Micro...	OMIM:600118
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Iris coloboma	OMIM:147950
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating branched chain amino acid conce...	ORPHA:2394
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Iris coloboma, Sclerocornea	ORPHA:77298
Transaldolase Deficiency	Hepatomegaly, Small for gestational age, Depressed nasal bridge, Ventricular septal defect, Splen...	OMIM:606003
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op...	ORPHA:98957
Cutis Marmorata Telangiectatica Congenita	Leukocoria	OMIM:219250
Optic Atrophy 1	Pallor	OMIM:165500
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Autosomal Erythropoietic Protoporphyria	Abnormal circulating porphyrin concentration, Erythema, Decreased liver function, Cirrhosis, Chol...	ORPHA:79278
Spherocytosis, Type 4	Splenomegaly, Jaundice, Hyperbilirubinemia	OMIM:612653
Isolated Thyroid-Stimulating Hormone Deficiency	Depressed nasal bridge, Neonatal hyperbilirubinemia, Pituitary hypothyroidism, Growth delay, Abno...	ORPHA:90674
Crigler-Najjar Syndrome	Jaundice, Abnormality of the liver	ORPHA:205
Primary Angiitis Of The Central Nervous System	Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis	ORPHA:140989
Acute Myelomonocytic Leukemia	Pallor, Eosinophilia	ORPHA:517
16P12.1P12.3 Triplication Syndrome	Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Bulbous nose, Ab...	ORPHA:485405
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Glutamate-Cysteine Ligase Deficiency	Jaundice, Hepatosplenomegaly	ORPHA:33574
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Short stature, Microcornea, Growth delay, Microphthalmia	ORPHA:2528
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Histiocytoid Cardiomyopathy	Hepatomegaly, Cyanosis, Corneal opacity, Ventricular septal defect, Cardiomegaly, Polycystic ovar...	ORPHA:137675
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Pancreatic fibrosis, Small for ge...	OMIM:557000
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cataract, Short stature, Prominent nose, Microcornea, Microphthalmia, Intrauterine growth retarda...	OMIM:616171
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Microvesic...	OMIM:203700
Burn-Mckeown Syndrome	Short stature, Prominent nasal bridge, Wide nasal bridge, Abnormal cardiac septum morphology, Sho...	ORPHA:1200
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, Myopic astigmatism, Mi...	OMIM:152950
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Elevated circulating C-reactive protein concentration, Secretory diarrhea, El...	OMIM:619573
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom...	ORPHA:231222
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice	OMIM:185000
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short nose, Anteverted nares, Short stature	ORPHA:2015
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
Apert Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Abnormal semicirc...	ORPHA:87
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Growth delay	OMIM:615631
3-Methylglutaconic Aciduria, Type V	Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Post...	OMIM:610198
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Small for gestational age, Short stature, Postnatal growth retardation, Truncal obesity, Severe p...	ORPHA:73272
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Dehydrated Hereditary Stomatocytosis 2	Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia	OMIM:616689
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Peritonitis, Growth delay, Hypoalbuminemia, Hypercholesterolemia, Abnormal ...	ORPHA:567548
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm...	ORPHA:494424
Nail-Patella Syndrome	Keratoconus, Cataract, Short stature, Antecubital pterygium, Microcornea, Microphakia, Lester's sign	OMIM:161200
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Fatty Acyl-Coa Reductase 1 Deficiency	Short stature, Depressed nasal bridge, Growth delay, Juvenile cataract, Short nose	ORPHA:438178
Distal Deletion 13Q	Iris coloboma	ORPHA:1590
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Ventricular septal defect, Dilated cardiomyopathy, Hypoalbuminemia	OMIM:616730
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Decreased circu...	OMIM:300972
Branchiootorenal Syndrome 1	Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch...	OMIM:113650
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of prop...	OMIM:215600
Bresek Syndrome	Iris coloboma	ORPHA:85284
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Abnormal repetitive mannerisms	OMIM:617393
Mmep Syndrome	Microphthalmia, Cryptorchidism, Ventricular septal defect	ORPHA:3434
Pierpont Syndrome	Small for gestational age, Wide nasal ridge, Cryptorchidism, Abnormal subcutaneous fat tissue dis...	ORPHA:487825
Congenital Disorder Of Glycosylation, Type Id	Iris coloboma	OMIM:601110
Galloway-Mowat Syndrome 1	Cataract, Small for gestational age, Short stature, Narrow nasal ridge, Prominent nose, Hypoplasi...	OMIM:251300
Catel-Manzke Syndrome	Atrial septal defect, Failure to thrive, Ventricular septal defect, Short stature	ORPHA:1388
Erythrokeratodermia Variabilis	Cataract, Corneal opacity	ORPHA:317
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Failure to thrive in infancy, Gastritis, Cachexia, Splenomegaly, I...	ORPHA:37042
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Beta-Thalassemia Major	Hypoparathyroidism, Hepatomegaly, Failure to thrive in infancy, Depressed nasal bridge, Hypersple...	ORPHA:231214
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Elevated gamma-...	OMIM:278000
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula...	ORPHA:91387
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Nausea, Jaundice, Bicar...	OMIM:229600
Intellectual Developmental Disorder, X-Linked 91	Short nose, Obesity	OMIM:300577
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat...	ORPHA:31825
Spherocytosis, Type 2	Splenomegaly, Jaundice, Hyperbilirubinemia	OMIM:616649
Sepsis In Premature Infants	Hepatomegaly, Cyanosis, Small for gestational age, Elevated circulating C-reactive protein concen...	ORPHA:90051
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Fish-Eye Disease	Corneal opacity	ORPHA:79292
Fadd-Related Immunodeficiency	Ventricular septal defect, Hepatic fibrosis, Decreased liver function	ORPHA:306550
Richieri-Costa/Guion-Almeida Syndrome	Iris coloboma	OMIM:268850
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Prominent nasal bridge, Cardiomegaly, Bilateral cryptorchidism, Peters...	OMIM:618652
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Pigment gallstones, Splenomegaly, Jaundice, Decreased glucosephosphate isomerase level, Cholecyst...	OMIM:613470
Meckel Syndrome, Type 1	Accessory spleen, Malformation of the hepatic ductal plate, Enlarged naris, Asplenia, Cryptorchid...	OMIM:249000
Shukla-Vernon Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive...	OMIM:301029
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Gastroesophageal reflux, Choanal stenosis, Atrial septal defect, Patent foramen ovale, Iris colob...	OMIM:620186
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria	ORPHA:289483
Kapur-Toriello Syndrome	Retinal coloboma, Iris coloboma	ORPHA:2328
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Short stature, Splenomegaly, Hepatosplenomegaly, Growth delay, Stillbirth, Hypocalc...	OMIM:259720
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Elevated circulating creatine kinase concentration, Cardiomyopathy, Developmental...	OMIM:613155
Bacterial Toxic-Shock Syndrome	Elevated circulating creatine kinase concentration, Myocarditis, Peritonitis, Diarrhea, Elevated ...	ORPHA:36234
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru...	ORPHA:247815
Neonatal Alloimmune Neutropenia	Jaundice	ORPHA:464370
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Failure to thrive in infancy, Proportionate short stature, Hyperkalemia, Weight los...	ORPHA:171876
Vascular Hyalinosis	Hematochezia, Vascular dilatation, Subarachnoid hemorrhage	OMIM:277175
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss	ORPHA:99978
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Choanal atresia, Short stature, Underdeveloped nas...	ORPHA:163979
Cataract 11, Multiple Types	Microphthalmia, Cataract, Developmental cataract	OMIM:610623
Oculofaciocardiodental Syndrome	Microcornea, Cataract, Iris coloboma, Ectopia lentis	ORPHA:2712
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Microphthalmia	OMIM:251505
Breath-Holding Spells	Pallor	OMIM:607578
Lopes-Maciel-Rodan Syndrome	Agitation, Abnormal repetitive mannerisms, Dysphagia, Bruxism	OMIM:617435
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Keratitis, Splenomegaly, Jaundice, Diarrhea, Flushin...	ORPHA:525731
Sonoda Syndrome	Ventricular septal defect, Depressed nasal bridge, Short stature	OMIM:270460
Alagille Syndrome	Keratoconus, Hepatomegaly, Ventricular septal defect, Corneal dystrophy, Telangiectasia of the sk...	ORPHA:52
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology	ORPHA:3032
Branchio-Oculo-Facial Syndrome	Microcornea, Coloboma, Cataract, Iris coloboma	ORPHA:1297
Walker-Warburg Syndrome	Cataract, Corneal opacity, Chorioretinal dysplasia, Microcornea, Iris coloboma	ORPHA:899
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Subc...	ORPHA:97278
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Cholecystit...	ORPHA:100086
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Anteverted nares, Rhizomelia, Diarrhea, Depressed nasal ridge, Weight loss, Severe ...	ORPHA:1842
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity	ORPHA:1064
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetopr...	ORPHA:370348
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Abnormal circulating lipid concentration, Abnormality of body weight, Enlarged ...	ORPHA:2298
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Diarrhea, Elevated circulating creatinine concentration, Vomiting,...	ORPHA:542323
Trisomy 13	Aplasia/Hypoplasia of the iris, Cataract, Iris coloboma	ORPHA:3378
Thiamine-Responsive Megaloblastic Anemia Syndrome	Paroxysmal atrial tachycardia, Congestive heart failure, Pallor, Cardiac arrest	ORPHA:49827
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Meckel Syndrome, Type 6	Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts	OMIM:612284
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Anteverted nares, Ventricular septal def...	OMIM:214100
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:348
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Cutaneous photosensitivity, Intrauterine growth retardation	OMIM:616570
Xk Aprosencephaly Syndrome	Atrial septal defect, Microphthalmia, Abnormal nostril morphology, Ventricular septal defect	ORPHA:3469
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy	ORPHA:276556
Rh Deficiency Syndrome	Jaundice, Hepatosplenomegaly, Hyperbilirubinemia, Increased circulating lactate dehydrogenase con...	ORPHA:71275
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium	OMIM:619339
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:42
Baraitser-Winter Syndrome 1	Iris coloboma, Chorioretinal coloboma	OMIM:243310
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Cataract, Depressed nasal bridge, Dysphagia, Microphthalmia, Failu...	OMIM:612379
Ophthalmomandibulomelic Dysplasia	Megalocornea, Corneal opacity	ORPHA:2741
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Hyperpro...	OMIM:619064
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Short nose, Anteverted nares, Short stature	ORPHA:1355
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior	OMIM:615516
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Pericarditis, Hydrocephalus, Pallor	ORPHA:163596
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated transferrin saturation, Incr...	ORPHA:79230
Scheie Syndrome	Corneal opacity	OMIM:607016
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato...	OMIM:300855
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose, Small for gestational age, Short stature	OMIM:245570
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Optic disc coloboma, Iris coloboma	ORPHA:52055
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Hyponatremia, Fatal liver failure in infancy, Failure to thrive, H...	ORPHA:275761
Cerebrooculofacioskeletal Syndrome 2	Cataract, Small for gestational age, Prominent nose, Developmental cataract, Growth delay, Microp...	OMIM:610756
Oculocerebrocutaneous Syndrome	Corneal opacity, Iris coloboma	ORPHA:1647
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Depressed nasal bridge, Ventricular septal defect, Mild postnatal g...	OMIM:235510
Senior-Boichis Syndrome	Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con...	ORPHA:84081
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Depressed nasal bridge, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac ...	OMIM:608776
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Overweight, Pituitary hypothyroidism, Growth delay, ...	ORPHA:99832
Legionnaires Disease	Hyponatremia, Pericarditis, Splenomegaly, Jaundice, Recurrent pharyngitis, Myocarditis, Hepatitis...	ORPHA:549
Hereditary Cryohydrocytosis With Reduced Stomatin	Cataract, Short stature, Conjugated hyperbilirubinemia, Postnatal growth retardation, Jaundice, H...	ORPHA:168577
Intestinal Botulism	Mydriasis	ORPHA:178481
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Short stature, Atrial septal defect, Microphthalmia, Short nose, Tetralo...	OMIM:300887
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Eosinophilic infiltration of the esophagus, Multiple muscular ventricular septal defects, Growth ...	OMIM:615508
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Splenomegaly, Jaundice, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Decreased g...	OMIM:300908
Baker-Gordon Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:618218
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Reduced serum a...	OMIM:613490
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Depressed nasal bridge, Short stature, Cachexia, Diarrhea, Abnormal ...	ORPHA:79076
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Nanophthalmos	Microphthalmia, Abnormal choroid morphology	ORPHA:35612
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans...	ORPHA:774
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Coloboma, Cataract, Corneal opacity	OMIM:613153
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi...	OMIM:277450
Allan-Herndon-Dudley Syndrome	Small for gestational age, Failure to thrive in infancy, Short stature, Cryptorchidism, Prolonged...	ORPHA:59
Toxin-Mediated Infectious Botulism	Mydriasis	ORPHA:230800
Sotos Syndrome	Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Broad nasal tip, Cryptorchid...	OMIM:117550
Alveolar Echinococcosis	Liver abscess, Cholangitis, Portal hypertension, Abnormal pericardium morphology, Pancreatic cyst...	ORPHA:284
Myopathy With Extrapyramidal Signs	Elevated hepatic transaminase, Hepatomegaly, Extremely elevated creatine kinase, Anteverted nares...	OMIM:615673
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Small for gestational age, Elevated circulating creatine kinase concentration, Ventricular septal...	OMIM:618775
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Vomiting, Gastroesophageal reflux, Hypocholesterolemia, Atrial septal defect, He...	OMIM:270400
Genetic Steroid-Resistant Nephrotic Syndrome	Peritonitis, Hypoalbuminemia	ORPHA:656
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy	ORPHA:276575
Stromme Syndrome	Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma	OMIM:243605
Evans Syndrome	Pallor, Syncope, Epistaxis, Petechiae	ORPHA:1959
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Increased body weight, Hepatic fibrosis, Vomi...	ORPHA:264580
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
Sturge-Weber Syndrome	Conjunctival telangiectasia, Corneal dystrophy, Abnormal choroid morphology, Heterochromia iridis...	ORPHA:3205
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Elevated circulating creatine kinase concentration, Hypoalbuminemia, N...	OMIM:619055
Microphthalmia, Lenz Type	Cataract, Optic disc coloboma, Microcornea, Chorioretinal coloboma, Iris coloboma	ORPHA:568
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Depressed nasal bridge, Large for gestational age, Constipation, Prolonged neonatal jaundice, Goiter	ORPHA:226313
Proteus-Like Syndrome	Limbal dermoid, Abnormal pupil morphology, Cataract, Heterochromia iridis	ORPHA:2969
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy	ORPHA:276580
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension	OMIM:263400
Reynolds Syndrome	Hepatomegaly, Telangiectasia of the skin, Jaundice, Xerostomia, Keratoconjunctivitis sicca, Gastr...	ORPHA:779
Hyperinsulinemic Hypoglycemia, Familial, 8	Short stature, Hyperammonemia, Growth delay, Chronic constipation, Atrial septal defect, Hypercho...	OMIM:620211
X-Linked Intellectual Disability, Cantagrel Type	Abnormal repetitive mannerisms	ORPHA:85277
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Hep...	ORPHA:1333
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Diarrhea, Jaundice, Weight loss, Vomiting, Pancreatic ...	ORPHA:677
Tetraamelia-Multiple Malformations Syndrome	Microcornea, Cataract, Iris coloboma	ORPHA:3301
Joubert Syndrome 37	Hepatomegaly, Wide nose, Anteverted nares, Short stature, Cryptorchidism, Obesity, Wide nasal bri...	OMIM:619185
Familial Multiple Nevi Flammei	Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar...	ORPHA:624
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Stroke-like epis...	OMIM:300845
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hypertrophic cardiomyopathy, Pallor	OMIM:613561
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Failure to thrive, Underdeveloped nasal alae, Biliary hyperplasia, Cryptorchidism, ...	ORPHA:83617
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Depressed nasal bridge, Ventricular septal defect, Short stature, Cryptorchidism, Bulbous nose, B...	ORPHA:369891
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot...	OMIM:620300
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Transketolase Deficiency	Hepatomegaly, Cataract, Ventricular septal defect, Proportionate short stature, Uveitis, Abnormal...	ORPHA:488618
Acrocephalopolydactyly	Short nose, Depressed nasal ridge, Hepatosplenomegaly	ORPHA:221054
Johanson-Blizzard Syndrome	Short stature, Dextrocardia, Underdeveloped nasal alae, Abnormality of the pancreas, Intrauterine...	ORPHA:2315
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Cataract, Ventricular septal defect	OMIM:608227
Non-Functioning Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t...	ORPHA:94080
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Elevated circulating creati...	ORPHA:228305
Acquired Purpura Fulminans	Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage	ORPHA:49566
Triploidy	Cataract, Iris coloboma	ORPHA:3376
Vernal Keratoconjunctivitis	Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate...	ORPHA:70476
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa...	OMIM:614921
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor...	ORPHA:464321
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular...	OMIM:177850
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Decreased serum iron, Broad nasal tip, Overweight, Recurrent upper respiratory tract infections, ...	ORPHA:391372
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Abnormal heart morphology, Hypertrophic cardiomyopathy, Conjunctivitis, Hypoa...	ORPHA:505248
Kniest Dysplasia	Cataract, Aplasia/Hypoplasia of the lens, Depressed nasal bridge, Lens luxation, Disproportionate...	ORPHA:485
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Mesenteric cyst, Anteverted nares, Depressed nasal bridge, Parachute mitral valve, Prominent nose...	OMIM:618316
Hemochromatosis, Type 3	Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Cryptorchidism...	OMIM:614857
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon	OMIM:609218
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Jaundice, Low plasma citrulline, Hyperglutaminemia, Hyperammonemia, Hyperprolinemia, Hypoornithin...	OMIM:615751
Harel-Yoon Syndrome	Corneal opacity, Developmental cataract	OMIM:617183
Sandestig-Stefanova Syndrome	Small for gestational age, Muscular ventricular septal defect, Wide nasal bridge, Developmental c...	OMIM:618804
Hereditary Chronic Pancreatitis	Abnormal circulating enzyme concentration or activity, Elevated circulating C-reactive protein co...	ORPHA:676
Spontaneous Periodic Hypothermia	Arrhythmia, Pallor	ORPHA:29822
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Pallor	ORPHA:276608
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Depressed nasal bridge, Choanal atresia, Bicuspid aortic valve, Ventricu...	ORPHA:284169
Alagille Syndrome 2	Long nose, Tetralogy of Fallot, Cholestasis, Cholestatic liver disease, Pulmonic stenosis, Atrial...	OMIM:610205
Eng-Strom Syndrome	Intrauterine growth retardation, Abnormal cardiac septum morphology, Ventricular septal defect, S...	ORPHA:1937
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Biliary atresia, Elevated circulating creatine kinase concentration	ORPHA:565899
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:329178
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Subc...	ORPHA:97261
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage	OMIM:263300
14Q11.2 Microdeletion Syndrome	Ventricular septal defect, Short nose, Depressed nasal bridge	ORPHA:261120
White Forelock With Malformations	Atrial septal defect, Prominent veins on trunk	OMIM:277740
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Dilated cardiomyopathy...	ORPHA:20
Sialidosis Type 2	Corneal opacity	ORPHA:87876
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Subc...	ORPHA:97283
Dengue Fever	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Hypotension, Brui...	ORPHA:99828
Familial Dysautonomia	Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity	ORPHA:1764
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Disproport...	ORPHA:1354
Hurler-Scheie Syndrome	Corneal opacity	ORPHA:93476
Neurotrophic Keratopathy	Anterior uveitis, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosion...	ORPHA:137596
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce...	OMIM:619111
Autism Spectrum Disorder Due To Auts2 Deficiency	Anteverted nares, Small for gestational age, Short stature, Cryptorchidism, Wide nasal bridge, Ab...	ORPHA:352490
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Cataract, Rhizomelia, Ventricular septal defect, Wide nasal bridge, Microphthalmia	ORPHA:93267
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma	OMIM:271630
Polysyndactyly With Cardiac Malformation	Ventricular septal defect, Anteverted nares, Stillbirth, Atrial septal defect, Hepatic cysts	OMIM:263630
Childhood Disintegrative Disorder	Abnormal repetitive mannerisms	ORPHA:168782
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Hadziselimovic Syndrome	Ventricular hypertrophy, Anteverted nares, Prominent nasal bridge, Ventricular septal defect, Sho...	OMIM:612946
Distal Xq28 Microduplication Syndrome	Short stature, Epistaxis, Broad nasal tip, Recurrent upper respiratory tract infections, Patent f...	ORPHA:293939
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Erythema, Hepatic failure, Hypertriglyceridemia	OMIM:177000
Kapur-Toriello Syndrome	Cataract, Retinal coloboma, Iris coloboma	OMIM:244300
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615637
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	ORPHA:64753
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Gait ataxia, Progressive cerebellar ataxia, Difficulty walking, Cochlear degenerat...	ORPHA:95433
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Short stature, Splenomegaly, Erythema, Cardiomyopath...	OMIM:225750
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Pericarditis, Elevated circulating creatine kinase concentration, ...	ORPHA:99826
Hyperinsulinism Due To Hnf1A Deficiency	Tachycardia, Syncope, Palpitations, Pallor	ORPHA:324575
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Inability to walk, Sensorineur...	ORPHA:52368
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Recurrent...	ORPHA:444490
Donnai-Barrow Syndrome	Hypoplasia of the iris, Cataract, Iris coloboma	OMIM:222448
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Potocki-Lupski Syndrome	Small for gestational age, Short stature, Oral-pharyngeal dysphagia, Gastroesophageal reflux, Hyp...	OMIM:610883
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, In...	ORPHA:210136
Perlman Syndrome	Hepatomegaly, Anteverted nares, Cryptorchidism, Abnormal pancreas morphology, Wide nasal bridge, ...	ORPHA:2849
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Brushfield spots, Short nose, Failure to thrive, Aplasia/Hypop...	ORPHA:1895
Secondary Intestinal Lymphangiectasia	Intestinal obstruction, Reduced circulating transferrin concentration, Chronic diarrhea, Intestin...	ORPHA:90363
Hemoglobin D Disease	Pallor	ORPHA:90039
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra...	OMIM:609015
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:620292
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Congenital Analbuminemia	Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy...	ORPHA:86816
Hyperlipoproteinemia, Type I	Nausea, Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Vomiting, I...	OMIM:238600
Joubert Syndrome With Oculorenal Defect	Iris coloboma, Chorioretinal coloboma	ORPHA:2318
Sjogren-Larsson Syndrome	Astigmatism, Opacification of the corneal epithelium	OMIM:270200
Distal Deletion 10Q	Aggressive behavior, Congenital sensorineural hearing impairment, Cochlear malformation, Protrudi...	ORPHA:96148
Rh-Null, Regulator Type	Jaundice, Unconjugated hyperbilirubinemia	OMIM:268150
Foxg1 Syndrome	Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Stereotypical hand wringing, Bruxism	ORPHA:561854
Hypothyroidism Due To Tsh Receptor Mutations	Thyroid hypoplasia, Increased circulating thyroglobulin level, Constipation, Prolonged neonatal j...	ORPHA:90673
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr...	ORPHA:251274
Acth Deficiency, Isolated	Cholestasis, Jaundice, Adrenocorticotropic hormone deficiency	OMIM:201400
Duane Retraction Syndrome	Central heterochromia, Abnormal pupil morphology, Microcornea, Hypoplastic iris stroma, Chorioret...	ORPHA:233
Leukoencephalopathy With Calcifications And Cysts	Stroke, Cerebral hemorrhage	ORPHA:542310
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens...	ORPHA:369929
Verheij Syndrome	Anteverted nares, Small for gestational age, Optic nerve hypoplasia, Broad nasal tip, Truncus art...	OMIM:615583
Noonan Syndrome 11	Depressed nasal bridge, Short stature, Bulbous nose, Pulmonic stenosis, Palmoplantar cutis laxa, ...	OMIM:618499
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Pelvis-Shoulder Dysplasia	Microcornea, Retinal coloboma, Iris coloboma	ORPHA:2839
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor...	OMIM:618825
Glutamine Deficiency, Congenital	Hypoglutaminemia, Depressed nasal bridge, Anteverted nares, Erythema, Wide nasal bridge, Hyperamm...	OMIM:610015
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Increased circulating lactate dehydrogenase concent...	OMIM:601775
Multicentric Carpotarsal Osteolysis Syndrome	Corneal opacity	OMIM:166300
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr...	ORPHA:71212
Peroxisome Biogenesis Disorder 6B	Delayed menarche, Elevated circulating phytanic acid concentration, Decreased liver function, Pro...	OMIM:614871
Lissencephaly 8	Microphthalmia, Cataract, Elevated circulating creatine kinase concentration	OMIM:617255
Beta-Thalassemia	Hepatomegaly, Splenomegaly, Hepatitis, Abnormality of iron homeostasis, Cholelithiasis, Hypertrop...	ORPHA:848
Immunodeficiency 43	Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia	OMIM:241600
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Cataract, Depressed nasal bridge, Anteverted nares, Bulbous nose, Microph...	OMIM:614105
Rhiny	Short nose, Anteverted nares	OMIM:180360
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Decreased circulating hepcidin concentration, Abn...	ORPHA:101330
Galloway-Mowat Syndrome 3	Short stature, Hypoalbuminemia, Microphthalmia, Failure to thrive, Intrauterine growth retardation	OMIM:617729
Nizon-Isidor Syndrome	Iris coloboma	OMIM:618872
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Hepatomegaly, Hyperalaninemia, Hyperglutamatemia, Increased serum pyruvate, Hyp...	ORPHA:3008
Formiminoglutamic Aciduria	Atrial septal defect, Abnormal circulating enzyme concentration or activity, Abnormal circulating...	ORPHA:51208
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Jaundice, Increased circulating lactate dehydrogenase concentration	OMIM:613839
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity	ORPHA:281090
Bachmann-Bupp Syndrome	Cryptorchidism, Hyperbilirubinemia, Large for gestational age	OMIM:619075
Combined Immunodeficiency-Enteropathy Spectrum	Ventricular septal defect, Hepatitis, Bloody diarrhea, Hypoplasia of the thymus, Intrauterine gro...	ORPHA:436252
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Patent foramen ovale, Pulmonic stenosis	OMIM:618914
X-Linked Sideroblastic Anemia	Pallor	ORPHA:75563
Mowat-Wilson Syndrome	Cataract, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Iris coloboma	OMIM:235730
Fetal Gaucher Disease	Intracranial hemorrhage, Stillbirth, Neonatal death	ORPHA:85212
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Cryptorchidism, Bulbous nose, Abnormal heart morphology, Gastroesophag...	OMIM:618494
Spinal Muscular Atrophy, Type I	Atrial septal defect, Ventricular septal defect	OMIM:253300
Iatrogenic Botulism	Mydriasis	ORPHA:254509
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Hepatomegaly, Anteverted nares, Wide nasal bridge, Hypertrophic cardiomyopat...	OMIM:619383
Erythrocytosis, Familial, 1	Hypertension, Cerebral hemorrhage, Myocardial infarction	OMIM:133100
Degcags Syndrome	Prominent nose, Oral-pharyngeal dysphagia, Premature graying of hair, Gastroesophageal reflux, At...	OMIM:619488
Reni Syndrome	Cryptorchidism, Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Cyclic Vomiting Syndrome	Cardiomyopathy, Pallor	OMIM:500007
Frontonasal Dysplasia 1	Cataract, Broad nasal tip, Bifid nasal tip, Wide nasal bridge, Short columella, Bifid nose, Micro...	OMIM:136760
Distal 7Q11.23 Microdeletion Syndrome	Atrial septal defect	ORPHA:254351
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Optic disc coloboma, Iris coloboma	OMIM:300472
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Cyanosis, Small for gestational age, Ventr...	ORPHA:860
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Decreased methionine synthase activity, Small for gestation...	OMIM:277380
Familial Hyperaldosteronism Type I	Intracranial hemorrhage, Hypertension, Epistaxis	ORPHA:403
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis	ORPHA:411777
Roifman Syndrome	Hepatomegaly, Noncompaction cardiomyopathy, Anteverted nares, Ventricular septal defect, Short st...	OMIM:616651
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bicuspid aortic valve, Vomiting, Chorioretinal coloboma, Juvenile cataract, Hepatic steatosis, Ir...	OMIM:619475
14Q24.1Q24.3 Microdeletion Syndrome	Truncus arteriosus, Prominent nasal bridge, Ventricular septal defect, Cryptorchidism, Wide nasal...	ORPHA:401935
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
King-Denborough Syndrome	Ventricular septal defect, Elevated circulating creatine kinase concentration, Short stature, Bro...	OMIM:619542
Wound Botulism	Mydriasis	ORPHA:178475
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac...	OMIM:617600
Wolf-Hirschhorn Syndrome	Ectopia pupillae, Iris coloboma, Rieger anomaly	OMIM:194190
Lethal Osteosclerotic Bone Dysplasia	Depressed nasal ridge, Short nose, Anteverted nares, Intrauterine growth retardation	ORPHA:1832
Chédiak-Higashi Syndrome	Elevated hepatic transaminase, Hyponatremia, Hypertriglyceridemia, Epistaxis, Pericardial effusio...	ORPHA:167
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Distal Duplication 5Q	Ventricular septal defect, Prominent nasal bridge, Dextrocardia, Short stature, Cryptorchidism, A...	ORPHA:96097
Fetal Minoxidil Syndrome	Cryptorchidism, Ventricular septal defect, Depressed nasal bridge	ORPHA:1918
Filippi Syndrome	Ventricular septal defect, Underdeveloped nasal alae, Postnatal growth retardation, Cryptorchidis...	OMIM:272440
3C Syndrome	Depressed nasal bridge, Ventricular septal defect, Abnormal mitral valve morphology, Short statur...	ORPHA:7
Mietens Syndrome	Microcornea, Cataract, Corneal opacity, Sclerocornea	ORPHA:2557
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Subcutaneous lipoma, Hypercalcemia, Elevated circulating ...	ORPHA:97282
Lissencephaly Syndrome, Norman-Roberts Type	Wide nose, Wide nasal bridge, Dysphagia, Atrial septal defect, Intrauterine growth retardation, H...	ORPHA:89844
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Ventricular septal defect, Depressed nasal bridge, Cutis marmorata	OMIM:602501
Acys Amyloidosis	Stroke, Cerebral hemorrhage	ORPHA:100008
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Short stature, Splenomegaly, Obesity, Cholestasis, Hepat...	OMIM:615630
Microcephaly-Capillary Malformation Syndrome	Wide nose, Small for gestational age, Ventricular septal defect, Short stature, Atrial septal def...	OMIM:614261
Hemolytic Anemia, Congenital, X-Linked	Jaundice	OMIM:301015
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Conjunctivitis, Corneal opacity	OMIM:602562
Rodrigues Blindness	Microcornea, Sclerocornea	OMIM:268320
Intellectual Developmental Disorder, Autosomal Recessive 71	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
Glucagonoma	Hepatomegaly, Necrolytic migratory erythema, Intermittent jaundice, Constipation, Subcutaneous li...	ORPHA:97280
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Cat Eye Syndrome	Ventricular septal defect, Short stature, Biliary atresia, Hypoplastic left heart, Total anomalou...	OMIM:115470
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia, Hepatitis, Prolonged neonatal jaundice	ORPHA:199296
Castleman Disease	Intestinal obstruction, Elevated circulating C-reactive protein concentration, Jaundice, Weight l...	ORPHA:160
Retinitis Pigmentosa 89	Bicuspid aortic valve, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic fibrosis, Intrahepatic...	OMIM:618955
Porphyria, Congenital Erythropoietic	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Corneal scarring, Conjunctivitis, Elevated c...	OMIM:263700
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Cryptorchidism, Recurrent upper respira...	OMIM:618183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia, Cataract, Elevated circulating creatine kinase concentration	OMIM:615181
2Q23.1 Microdeletion Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu...	ORPHA:228402
Frontorhiny	Cataract, Iris coloboma	ORPHA:391474
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Cataract, Right ventricular dilatation, Abnormal cir...	ORPHA:369840
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Iris coloboma, Chorioretinal coloboma	OMIM:615219
Fallot Complex With Severe Mental And Growth Retardation	Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis, Double outlet right ventricle,...	OMIM:601127
Adenylosuccinate Lyase Deficiency	Short nose, Anteverted nares	ORPHA:46
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Portal hypertension, J...	ORPHA:79124
Joubert Syndrome With Ocular Defect	Retinal coloboma, Iris coloboma	ORPHA:220493
Familial Hyperaldosteronism Type Ii	Intracranial hemorrhage, Hypertension, Epistaxis	ORPHA:404
Alpha-Mannosidosis	Cataract, Corneal opacity	ORPHA:61
Mitochondrial Complex I Deficiency, Nuclear Type 39	Small for gestational age, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect...	OMIM:620135
Temple-Baraitser Syndrome	Wide nose, Depressed nasal bridge, Short columella, Gastroesophageal reflux, Constipation, Pulmon...	OMIM:611816
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Tachycardia, Pallor	ORPHA:90037
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Iris coloboma	OMIM:618874
Gracile Bone Dysplasia	Short stature, Asplenia, Hypocalcemia, Aniridia, Microphthalmia, Hypoplastic spleen, Failure to t...	OMIM:602361
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect, Short nose, Anteverted nares	OMIM:618506
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage	ORPHA:398189
Developmental And Epileptic Encephalopathy 102	Hepatomegaly, Situs inversus totalis, Chronic constipation, Gastroesophageal reflux, Atrial septa...	OMIM:619881
Pontocerebellar Hypoplasia, Type 11	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder...	OMIM:617695
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Hyperparathyroidism, Intestinal obstruction, Pituitary null cell ade...	ORPHA:913
Inhalational Botulism	Mydriasis	ORPHA:254504
Ring Chromosome 8 Syndrome	Short nose, Anteverted nares	ORPHA:1450
Cayler Cardiofacial Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Vitamin K Antagonist Embryofetopathy	Cataract, Depressed nasal bridge, Anteverted nares, Choanal atresia, Intrauterine growth retardat...	ORPHA:1914
Joubert Syndrome With Renal Defect	Iris coloboma	ORPHA:220497
Nephronophthisis 11	Anisocoria	OMIM:613550
Mevalonic Aciduria	Elevated hepatic transaminase, Cataract, Failure to thrive in infancy, Elevated circulating creat...	OMIM:610377
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Postnatal growth retardation, Cryptorchidism, Gastroesophageal reflux, Constipation...	OMIM:615419
Thyroid Hypoplasia	Short stature, Jaundice, Growth delay, Constipation, Thyroid hypoplasia	ORPHA:95720
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity	ORPHA:1867
Genetic Transient Congenital Hypothyroidism	Increased circulating thyroglobulin level, Constipation, Prolonged neonatal jaundice, Thyroid hyp...	ORPHA:226316
Weill-Marchesani Syndrome 1	Cataract, Depressed nasal bridge, Ventricular septal defect, Short stature, Ectopia lentis, Propo...	OMIM:277600
Triosephosphate Isomerase Deficiency	Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis, Failure to th...	OMIM:615512
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect, Small for gestational age, Short stature, Postnatal growth retardation...	ORPHA:3369
Congenital Fibrinogen Deficiency	Cyanosis, Hemorrhagic ovarian cyst, Splenic rupture, Developmental cataract, Left ventricular hyp...	ORPHA:335
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Miller Fisher Syndrome	Anisocoria, Mydriasis	ORPHA:98919
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea...	OMIM:301056
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Prominent nose, Postnatal growth retardation, Astigmatism, Atrial sept...	OMIM:615668
Huntington Disease-Like 1	Abnormal head movements, Restlessness, Chorea, Dysmetria, Gait ataxia, Jerky head movements	ORPHA:157941
Recombinant Chromosome 8 Syndrome	Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Postnatal growth retardation...	OMIM:179613
Developmental And Speech Delay Due To Sox5 Deficiency	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder...	ORPHA:313892
Joubert Syndrome	Iris coloboma	ORPHA:475
Ring Chromosome 10 Syndrome	Cachexia, Wide nasal bridge, Hypocalcemia, Microphthalmia, Intrauterine growth retardation	ORPHA:1438
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Elevated gamma-glutamyltransferase...	OMIM:243800
Insulin-Like Growth Factor I, Resistance To	Reduced subcutaneous adipose tissue, Rieger anomaly, Severe short stature, Ventricular septal def...	OMIM:270450
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Bruxism, Abnormal r...	OMIM:618342
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171420
Poikiloderma With Neutropenia	Depressed nasal bridge, Elevated circulating creatine kinase concentration, Short stature, Underd...	OMIM:604173
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Aggressive behavior, Self-injurious behavior, Skin-picking, Abnormal repetitive ma...	OMIM:600430
Tricuspid Atresia	Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great ar...	ORPHA:1209
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Growth delay, Hy...	OMIM:306000
Acrodysostosis 2 With Or Without Hormone Resistance	Anteverted nares, Depressed nasal bridge, Cryptorchidism, Blue irides, Obesity, Mild short statur...	OMIM:614613
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Cataract, Cutis marmorata, Abnormal pulmonary valve morphology, Port...	ORPHA:974
Developmental Delay With Variable Neurologic And Brain Abnormalities	Wide nose, Cataract, Anteverted nares, Astigmatism, Microphthalmia	OMIM:619694
Chromosome 19Q13.11 Deletion Syndrome, Distal	Reduced subcutaneous adipose tissue, Anteverted nares, Short stature, Underdeveloped nasal alae, ...	OMIM:613026
Ophthalmomandibulomelic Dysplasia	Megalocornea, Opacification of the corneal stroma	OMIM:164900
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Corneal opacity, Erythema, Growth delay, Hypoalbuminemia, Failure to thrive, Generalized abnormal...	ORPHA:79396
Mesoaxial Hexadactyly And Cardiac Malformation	Atrial septal defect, Short stature, Ventricular septal defect, Pulmonic stenosis	OMIM:249670
Contractures-Developmental Delay-Pierre Robin Syndrome	Iris coloboma	ORPHA:436003
Fetal Trimethadione Syndrome	Depressed nasal bridge, Ventricular septal defect, Transposition of the great arteries, Atrial se...	ORPHA:1913
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Optic nerve hypoplasia, Decreased response to growth hormone stimulati...	OMIM:609053
Periventricular Nodular Heterotopia 7	Anteverted nares, Ventricular septal defect, Cryptorchidism, Short nose, Failure to thrive	OMIM:617201
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Failure to thrive, Unilateral microphthalmos	OMIM:615085
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Depressed nasal bridge, Hypercalcemia, Decreased response to growth hormone stimulation test, Pos...	OMIM:614732
Osteoporosis-Pseudoglioma Syndrome	Corneal opacity	ORPHA:2788
Chediak-Higashi Syndrome	Hepatomegaly, Spontaneous, recurrent epistaxis, Splenomegaly, Jaundice, Ocular albinism, Macular ...	OMIM:214500
Lowry-Maclean Syndrome	Corneal opacity, Choanal atresia, Bilateral cryptorchidism, Abnormality of the abdominal organs, ...	ORPHA:2409
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca	ORPHA:1806
Congenital Varicella Syndrome	Microphthalmia, Cataract, Intrauterine growth retardation	ORPHA:291
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Abnormal repetitive mannerisms, Inappropriate laughter, Stereotypical hand wringing	OMIM:614104
Syndromic Diarrhea	Bicuspid aortic valve, Bloody diarrhea, Abnormality of the liver, Colitis, Hypoplasia of the thym...	ORPHA:84064
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anteverted nares, Depressed nasal bridge, Cardiomegaly, Splenomegaly, Dysphagia, He...	OMIM:608013
Brachytelephalangic Chondrodysplasia Punctata	Abnormal circulating enzyme concentration or activity, Cataract, Optic disc hypoplasia, Optic ner...	ORPHA:79345
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Liver abscess, Elevated circulating C-reactive protein concentrati...	ORPHA:54251
Microform Holoprosencephaly	Cyclopia, Iris coloboma	ORPHA:280200
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Adrenal hyperplasia, Jaundice, Hyperkalemia, Vomiting, Macroorchidism, Failure to t...	ORPHA:90790
North American Indian Childhood Cirrhosis	Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice	OMIM:604901
Jacobsen Syndrome	Anteverted nares, Depressed nasal bridge, Ventricular septal defect, Cryptorchidism, Microcornea,...	OMIM:147791
Cerebrooculofacioskeletal Syndrome 1	Cataract, Small for gestational age, Prominent nasal bridge, Prominent nose, Cryptorchidism, Micr...	OMIM:214150
X-Linked Intellectual Disability, Nascimento Type	Depressed nasal bridge, Ventricular septal defect, Underdeveloped nasal alae, Cryptorchidism, Dou...	ORPHA:163956
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect, Developmental cataract	ORPHA:357225
Olmsted Syndrome 1	Corneal opacity, Opacification of the corneal stroma	OMIM:614594
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Anteverted nares, Ventricular septal defect, Prominent nose, Cryptorchidism, Muscular ventricular...	OMIM:210710
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Jaundice, Dilated cardiomyopathy, Hyperammonemia, Hype...	ORPHA:79282
Cystinosis, Adult Nonnephropathic	Corneal crystals	OMIM:219750
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Elevated circulating acylcarnitine concentr...	ORPHA:99901
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Pterygium, Iris coloboma	ORPHA:371428
Tropical Pancreatitis	Pancreatic adenocarcinoma, Nausea, Jaundice, Weight loss, Chronic calcifying pancreatitis, Vomiti...	ORPHA:103918
Even-Plus Syndrome	Severe short stature, Bifid nasal tip, Depressed nasal ridge, Atrial septal defect, Short nose, P...	OMIM:616854
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Diarrhea, ...	OMIM:618278
19P13.12 Microdeletion Syndrome	Narrow nasal bridge, Anteverted nares, Ventricular septal defect, Cryptorchidism, Hyperlipidemia,...	ORPHA:254346
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Increased circulating fe...	OMIM:235200
Norrie Disease	Narrow nasal bridge, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Cachexia, Scleroc...	ORPHA:649
Lcat Deficiency	Corneal opacity	ORPHA:650
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Short stature, Recurrent upper respiratory tract infections, Chronic diarrhea, Wide...	OMIM:233600
Severe Intellectual Disability And Progressive Spastic Paraplegia	Abnormal repetitive mannerisms	ORPHA:280763
Chung-Jansen Syndrome	Cryptorchidism, Short nose, Anteverted nares, Obesity	OMIM:617991
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Patent foramen ovale, Slender build, Elevated circulating creatine kinase concentration	OMIM:615156
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Ventricular septal defect, Short stature, Postnatal growth retardation, Splenomegaly	OMIM:620210
5Q14.3 Microdeletion Syndrome	Abnormal repetitive mannerisms	ORPHA:228384
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Short stature, Microcornea, Microphthalmia, Intrauterine growth retardation	ORPHA:48431
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Ventricular septal defect, Prominent nasal bridge, Short stature, Cryptorchidism, Wide nasal brid...	OMIM:617452
Microphthalmia, Syndromic 9	Anophthalmia, Truncus arteriosus, Ventricular septal defect, Short stature, Severe short stature,...	OMIM:601186
Childhood Absence Epilepsy	Punding, Jerky head movements, Attention deficit hyperactivity disorder	ORPHA:64280
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Dysphagia, Bowel incontinence, Prolonged neonatal jaundice	OMIM:618868
Microphthalmia, Isolated 4	Microphthalmia, Absent testis	OMIM:613094
Congenital Muscular Dystrophy With Cerebellar Involvement	Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Abnormality...	ORPHA:370959
Baraitser-Winter Cerebrofrontofacial Syndrome	Microcornea, Optic disc coloboma, Heterochromia iridis, Iris coloboma	ORPHA:2995
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Short stature, Growth delay, Gastroesophageal reflux, Intrauterine growth retardation, Short nose	ORPHA:1495
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a...	OMIM:600376
Feingold Syndrome 2	Postnatal growth retardation, Ventricular septal defect, Short stature	OMIM:614326
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma	OMIM:230650
Diabetes Insipidus, Neurohypophyseal	Wide nose, Short nose	OMIM:125700
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Abnormal repetitive mannerisms	ORPHA:529965
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79240
Lassa Fever	Jaundice, Conjunctivitis, Diarrhea, Dysphagia	ORPHA:99824
Clark-Baraitser Syndrome	Depressed nasal bridge, Anteverted nares, Obesity, Short nose, Low hanging columella	OMIM:617752
8p23.1 deletion syndrome	Atrial septal defect, Cryptorchidism, Atrioventricular canal defect, Abnormal heart morphology	DECIPHER:39
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Corneal opacity	ORPHA:496790
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Depressed nasal bridge, Ventricular septal defect, Short stature, Lens lu...	OMIM:608328
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdeveloped nasal alae, Bifid nasa...	ORPHA:521308
Sickle Cell Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Cholelithiasis	OMIM:603903
Oculo-Palato-Cerebral Syndrome	Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Monosomy 13Q34	Hypercalcemia, Epistaxis, Broad nasal tip, Prominent nose, Prominent nasal bridge, Obesity, Hemat...	ORPHA:96168
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Megalencephaly	Macroorchidism, Truncal obesity, Atrial septal defect, Wide nasal bridge	ORPHA:2477
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A...	ORPHA:209902
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Jaundice, Failure to thrive, Diarrhea	ORPHA:276
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect, Small for gestational age, Short stature, Wide nasal bridge, Convex na...	OMIM:314320
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Short nose, Abnormality of alkaline phosphatase level, Anteverted nares	OMIM:619356
Acro-Renal-Ocular Syndrome	Cataract, Optic disc coloboma, Microcornea, Coloboma, Chorioretinal coloboma, Iris coloboma	ORPHA:959
Lathosterolosis	Hepatomegaly, Cataract, Anteverted nares, Intrahepatic cholestasis, Bulbous nose, Microcornea, Op...	ORPHA:46059
Deafness-Lymphedema-Leukemia Syndrome	Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility	ORPHA:3226
Xq28 (MECP2) duplication	Abnormal repetitive mannerisms, Dysphagia	DECIPHER:45
Abeta Amyloidosis, Dutch Type	Stroke, Cerebral hemorrhage	ORPHA:100006
Thrombotic Thrombocytopenic Purpura, Hereditary	Jaundice, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Prolonged...	OMIM:274150
Meckel Syndrome, Type 8	Anophthalmia, Pericardial effusion, Depressed nasal ridge, Microphthalmia, Short nose	OMIM:613885
Chromosome 3Q29 Duplication Syndrome	Abnormally large globe, Bulbous nose, Wide nasal bridge, Obesity, Short nose	OMIM:611936
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Cataract, Short stature, Chorioretinal dysplasia	OMIM:251270
Li-Campeau Syndrome	Ventricular septal defect, Short stature, Cryptorchidism, Atrial septal defect, Patent foramen ovale	OMIM:619189
White-Sutton Syndrome	Astigmatism, Iris coloboma	OMIM:616364
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Bradycardia, Petechiae	OMIM:617397
Smith-Magenis Syndrome	Hyperactivity, Self hugging, Head-banging, Onychotillomania, Abnormal repetitive mannerisms, Self...	OMIM:182290
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:610042
Developmental And Epileptic Encephalopathy 66	Ventricular septal defect, Dextrocardia, Cryptorchidism, Wide nasal bridge, Astigmatism, Atrial s...	OMIM:618067
Pyruvate Dehydrogenase E2 Deficiency	Choreoathetosis, Ataxia, Jerky head movements	OMIM:245348
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Pituitary dwarfism, Depressed nasal bridge, Anterior pituitary hypop...	ORPHA:226307
Yellow Fever	Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Elevated circu...	ORPHA:99829
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia, Secretory diarrhea	OMIM:614441
Macrocephaly-Intellectual Disability-Autism Syndrome	Depressed nasal bridge, Hepatic steatosis, Short nose	ORPHA:210548
8P11.2 Deletion Syndrome	Microcornea, Iris coloboma	ORPHA:251066
Revesz Syndrome	Megalocornea, Leukocoria	OMIM:268130
Progressive Supranuclear Palsy-Corticobasal Syndrome	Jerky head movements, Dysphagia	ORPHA:240103
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Truncal obesity, Short nose	ORPHA:2429
Isovaleric Acidemia	Cerebellar hemorrhage	OMIM:243500
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hypomethioninemia, Elevated circulating palmitoleylcarnitine concentration, Hyperhomocystinemia, ...	ORPHA:79284
Oculomaxillofacial Dysostosis	Corneal opacity	ORPHA:1794
American Trypanosomiasis	Myocarditis, Congestive heart failure, Cardiomyopathy, Pallor, Arrhythmia	ORPHA:3386
Phace Syndrome	Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma	ORPHA:42775
Biemond Syndrome Type 2	Microphthalmia, Short stature, Obesity, Delayed puberty	ORPHA:141333
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Cataract, Depressed nasal bridge, Portal hyperte...	OMIM:620005
Huntington Disease-Like 3	Abnormal head movements, Chorea, Progressive gait ataxia	ORPHA:157946
8Q12 Microduplication Syndrome	Atrial septal defect, Gastroesophageal reflux, Ventricular septal defect, Wide nasal bridge	ORPHA:228399
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics	OMIM:619725
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Bulbous nose, Ventricular septal defect, Short stature	OMIM:618330
Trisomy 12P	Short stature, Supernumerary nipple, Wide nasal bridge, Aplasia/Hypoplasia of the iris, Short nos...	ORPHA:1699
Smith-Magenis Syndrome	Hypertriglyceridemia, Failure to thrive in infancy, Anteverted nares, Depressed nasal bridge, Sho...	ORPHA:819
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Micronodular ci...	ORPHA:98907
Joubert Syndrome With Hepatic Defect	Optic disc coloboma, Iris coloboma, Chorioretinal coloboma	ORPHA:1454
Lateral Meningocele Syndrome	Iris coloboma	ORPHA:2789
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
Noonan Syndrome	Thickened helices, Aplasia of the semicircular canal, Low-set, posteriorly rotated ears, Sensorin...	ORPHA:648
Christianson Syndrome	Abnormal repetitive mannerisms, Inappropriate laughter, Dysphagia	ORPHA:85278
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Steinfeld Syndrome	Retinal coloboma, Iris coloboma	OMIM:184705
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Iris coloboma, Sclerocornea, Peters anomaly	OMIM:309801
Focal Dermal Hypoplasia	Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Chorioretinal coloboma, Iris coloboma	ORPHA:2092
Alazami Syndrome	Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh...	ORPHA:319671
Rheumatic Fever	Pericarditis, Epistaxis, Myocarditis, Erythema, Pallor, Arrhythmia	ORPHA:3099
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Necrolytic migratory erythema, Stomatitis, Cholelithiasis, Abnormal bil...	ORPHA:438274
Noonan Syndrome 8	Left ventricular hypertrophy, Ventricular septal defect, Short stature, Large for gestational age...	OMIM:615355
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose, Ectopia lentis	ORPHA:833
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave	ORPHA:231625
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Ocular anterior segment dysgenesis, Developmental cataract	ORPHA:324416
Chondrodysplasia Punctata 1, X-Linked Recessive	Cataract, Depressed nasal bridge, Short stature, Anosmia, Short nose, Short nasal septum	OMIM:302950
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Elevated hepatic transaminase, Gastroparesis, Elevated circulating creatine kinase concentration,...	OMIM:610131
Feingold Syndrome Type 2	Ventricular septal defect, Short stature	ORPHA:391646
Chops Syndrome	Cataract, Anteverted nares, Ventricular septal defect, Gastroparesis, Short stature, Splenomegaly...	OMIM:616368
Botulism	Mydriasis	ORPHA:1267
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	ORPHA:391307
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Broad nasal tip, Abnormally large globe, Splenomegaly, P...	ORPHA:1655
Fanconi Anemia, Complementation Group S	Anteverted nares, Prominent nasal bridge, Short stature, Underdeveloped nasal alae, Ovarian neopl...	OMIM:617883
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Wide nose, Ventricular septal defect, Prominent nasal bridge, Short stature, Cryptorchidism, Chro...	ORPHA:505237
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane	OMIM:613150
Coffin-Siris Syndrome 5	Wide nose, Depressed nasal bridge, Short stature, Atrial septal defect, Intrauterine growth retar...	OMIM:616938
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Oral cavity bleeding, Menorrhagi...	ORPHA:324636
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Bulbous nose, Chronic diarrhea, Steatorrhe...	OMIM:618268
Nanophthalmos 4	Microphthalmia	OMIM:615972
Peho-Like Syndrome	Short nose	OMIM:617507
Stevenson-Carey Syndrome	Atrial septal defect, Anteverted nares, Underdeveloped nasal alae, Gastroesophageal reflux, Const...	OMIM:611961
Joubert Syndrome 18	Intrauterine growth retardation, Ventricular septal defect, Intrahepatic biliary atresia	OMIM:614815
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Joubert Syndrome 14	Encephalocele, Ventricular septal defect, Meningocele, Intracranial hemorrhage, Hypertension	OMIM:614424
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Abnormal nasal morphology, C...	ORPHA:404440
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Bulbous nose, Gastroesophageal ...	ORPHA:329224
Charcot-Marie-Tooth Disease Type 1E	Anisocoria, Abnormal pupil morphology	ORPHA:90658
Pancreatic Colipase Deficiency	Chronic diarrhea, Growth delay, Steatorrhea, Cholelithiasis, Exocrine pancreatic insufficiency	ORPHA:309108
Atelis Syndrome 1	Atrial septal defect, Cataract, Ventricular septal defect, Prominent nose	OMIM:620184
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Small for gestational age, Reduced C-peptide level, Abnormal external nose mo...	ORPHA:556955
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Anteverted nares, Short stature, Underdeveloped nasal alae, Congenital hepatic fibrosis, Choriore...	ORPHA:2031
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Anteverted nares, Short stature, Bulbous nose, Wide nasal bridge, Growth delay, Gastroesophageal ...	OMIM:613604
Oculodentodigital Dysplasia, Autosomal Recessive	Microcornea, Cataract, Persistent pupillary membrane	OMIM:257850
Pseudo-Torch Syndrome 3	Hypertension, Cerebral hemorrhage, Cardiomegaly	OMIM:618886
Charge Syndrome	Low-set, posteriorly rotated ears, Facial palsy, Hearing impairment, External ear malformation, A...	ORPHA:138
Joubert Syndrome 8	Hepatomegaly, Obesity, Prolonged neonatal jaundice	OMIM:612291
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Warburg Micro Syndrome 4	Anteverted nares, Prominent nasal bridge, Short stature, Cryptorchidism, Developmental cataract, ...	OMIM:615663
Juvenile Polyposis Syndrome	Diarrhea, Hematochezia, Hypokalemia, Hypoalbuminemia, Failure to thrive	OMIM:174900
Immunodeficiency 82 With Systemic Inflammation	Gastritis, Elevated circulating C-reactive protein concentration, Splenomegaly, Diarrhea, Hepatit...	OMIM:619381
Achalasia-Addisonianism-Alacrima Syndrome	Anisocoria	OMIM:231550
Seizures-Scoliosis-Macrocephaly Syndrome	Cryptorchidism, Bulbous nose, Gastroesophageal reflux, Constipation, Atrial septal defect, Nausea	ORPHA:466926
Basel-Vanagaite-Smirin-Yosef Syndrome	Prominent nasal tip, Atrial septal defect, Anteverted nares, Ventricular septal defect, Developme...	ORPHA:464738
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Posterior embryotoxon	OMIM:617992
Intellectual Developmental Disorder, Autosomal Recessive 72	Narrow nasal base, Wide nasal ridge, Prominent nose, Broad nasal tip, Secundum atrial septal defe...	OMIM:618665
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Depressed nasal bridge, Decreased response to growth hormone stimulation test, Postnatal growth r...	OMIM:241410
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Depressed nasal bridge, Anteverted nares, Cryptorchidism, Obesity, Short columella, Short nose	ORPHA:171839
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated hepatic transaminase, Elevated circulating dodecanoylcarnitine concentration, Increased ...	OMIM:619355
Tempi Syndrome	Intracranial hemorrhage, Telangiectasia	ORPHA:284227
Mucolipidosis Type Iv	Corneal opacity	ORPHA:578
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Anteverted nares, Short stature, Cryptorchidism, Pulmonic stenosis, Hypertrophic cardiomyopathy, ...	ORPHA:2701
Branchiogenic Deafness Syndrome	Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens...	ORPHA:50815
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Atrial septal defect, Overriding aorta, Cyanosis, Cryptorchidism, Wide nasal bridge, Hypoplastic ...	ORPHA:3304
Jeavons Syndrome	Abnormal head movements	ORPHA:139431
Chromosome 6Pter-P24 Deletion Syndrome	Depressed nasal bridge, Ventricular septal defect, Tetralogy of Fallot, Telangiectasia, Chronic c...	OMIM:612582
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:617713
Sialidosis Type 1	Cataract, Corneal opacity	ORPHA:812
Warburg Micro Syndrome 3	Cataract, Postnatal growth retardation, Developmental cataract, Microcornea, Shallow anterior cha...	OMIM:614222
Microphthalmia, Isolated 5	Microphthalmia, Cataract	OMIM:611040
Maxillonasal Dysplasia, Binder Type	Short nose, Short columella, Depressed nasal bridge	OMIM:155050
Microphthalmia, Syndromic 8	Microcornea, Cryptorchidism, Premature skin wrinkling, Microphthalmia	OMIM:601349
Nasopalpebral Lipoma-Coloboma Syndrome	Coloboma, Conjunctival hyperemia, Cataract, Corneal opacity	ORPHA:2399
Al-Gazali Syndrome	Corneal opacity, Sclerocornea	OMIM:609465
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Diarrhea, Steatorrhea, Growth delay, Vomitin...	ORPHA:71
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect, Wide nasal bridge, Broad nasal tip	OMIM:620393
Acromicric Dysplasia	Bulbous nose, Severe short stature, Anteverted nares, Short nose	ORPHA:969
Lamb-Shaffer Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Abnormal temper tantrums	ORPHA:530983
Burn-Mckeown Syndrome	Ventricular septal defect, Prominent nasal bridge, Choanal atresia, Underdeveloped nasal alae, Bi...	OMIM:608572
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Idiopathic Pulmonary Hemosiderosis	Pallor, Heart murmur, Diffuse alveolar hemorrhage	ORPHA:99931
Inverted Duplicated Chromosome 15 Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Self-biting	ORPHA:3306
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Atrial septal defect, Growth delay, Short stature	ORPHA:52056
Congenital Heart Defects And Skeletal Malformations Syndrome	Ventricular septal defect, Cutis marmorata, Short stature, Long nose, Cryptorchidism, Chronic con...	OMIM:617602
Foodborne Botulism	Mydriasis	ORPHA:228371
Beta-Mercaptolactate Cysteine Disulfiduria	Anteverted nares, Short stature, Obesity, Atrial septal defect, Convex nasal ridge	ORPHA:1035
Wagro Syndrome	Aniridia, Cataract, Corneal opacity	OMIM:612469
Mycophenolate Mofetil Embryopathy	Iris coloboma, Chorioretinal coloboma	ORPHA:268249
Trichothiodystrophy 3, Photosensitive	Cataract, Short stature, Bilateral cryptorchidism, Developmental cataract, Cutaneous photosensiti...	OMIM:616395
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Cryptorchidism, Cataract, Obesity	ORPHA:363741
8P23.1 Microdeletion Syndrome	Short stature, Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Obesity, Weight loss, T...	ORPHA:251071
Adams-Oliver Syndrome 6	Ventricular septal defect, Cutis marmorata, Portal hypertension, Splenomegaly, Hepatic fibrosis, ...	OMIM:616589
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Seckel Syndrome 2	Small for gestational age, Short stature, Prominent nose, Growth delay, Microphthalmia	OMIM:606744
C Syndrome	Hepatomegaly, Anteverted nares, Ventricular septal defect, Short stature, Cryptorchidism, Wide na...	OMIM:211750
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Recurrent hand flapping, Agitation, Bruxism	OMIM:617903
Niemann-Pick Disease, Type C2	Hepatomegaly, Low cholesterol esterification rate, Splenomegaly, Jaundice, Dysphagia, Prolonged n...	OMIM:607625
Chromosome 6Q11-Q14 Deletion Syndrome	Short stature, Prominent nasal bridge, Broad nasal tip, Bilateral cryptorchidism, Short nose	OMIM:613544
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Cataract, Ventricular septal defect, Cryptorchidism, Hypoplastic left heart, Disproportionate sho...	ORPHA:2772
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cryptorchidism, Cataract, Obesity	OMIM:601794
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation	ORPHA:284160
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Abnormal repetitive mannerisms	OMIM:619092
Pierson Syndrome	Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hyaloid vascular system...	OMIM:609049
Myotonic Dystrophy 1	Cholelithiasis, Cataract, Testicular atrophy, Dysphagia	OMIM:160900
Frontofacionasal Dysplasia	Microcornea, Cataract, Iris coloboma	OMIM:229400
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Ventricular septal defect, Depressed nasal bridge, Prominent nasal bridge	OMIM:618974
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Chorioretinal atrophy, Corneal crystals	OMIM:210370
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Decreased response to growth hormone stimulation test, Narrow nasal ridge...	ORPHA:363528
Developmental And Epileptic Encephalopathy 6B	Abnormal repetitive mannerisms	OMIM:619317
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Abnormal repetitive mannerisms	OMIM:613443
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:397612
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Low cholesterol esterification rate, Splenomegaly, ...	OMIM:257220
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor...	ORPHA:363618
Suleiman-El-Hattab Syndrome	Ventricular septal defect, Cryptorchidism, Wide nasal bridge, Atrial septal defect, Failure to th...	OMIM:618950
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal temper tantrums, Attention ...	ORPHA:449291
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hypertyros...	OMIM:276700
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Ventricular septal defect, Prominent nasal bridge, Bulbous nose, Atrial septal defect, Short nose	OMIM:613870
White-Sutton Syndrome	Astigmatism, Iris coloboma	ORPHA:468678
Coffin-Siris Syndrome 6	Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder	OMIM:617808
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Cataract, Short stature, Bulbous nose, Wide nasal bridge, Abnormal heart morphology, Astigmatism,...	OMIM:618571
Ritscher-Schinzel Syndrome 1	Depressed nasal bridge, Decreased response to growth hormone stimulation test, Ventricular septal...	OMIM:220210
Mosaic Trisomy 9	Corneal opacity, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Asplen...	ORPHA:99776
Alpha-Mannosidosis, Adult Form	Cataract, Corneal opacity	ORPHA:309288
Congenital Fibrosis Of Extraocular Muscles	Anisocoria, Abnormal pupil shape, Cataract	ORPHA:45358
Intellectual Developmental Disorder, Autosomal Dominant 34	Abnormal repetitive mannerisms, Bruxism	OMIM:616351
Sialuria	Elevated hepatic transaminase, Hepatomegaly, Wide nasal bridge, Hepatosplenomegaly, Cholelithiasis	ORPHA:3166
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Cryptorchidism, Short nose, Depressed nasal bridge, Intrauterine growth retardation	OMIM:616910
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Wide nose, Anteverted nares, Small for gestational age, Depressed nasal bridge, Cardiomegaly, Sho...	OMIM:613320
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Iris atrophy, Cataract, Abnormal pupil morphology, Microcornea, Ectopia pupillae, Astigmatism, Re...	ORPHA:261552
Bartsocas-Papas Syndrome	Popliteal pterygium, Corneal opacity	ORPHA:1234
Neurocutaneous Melanocytosis	Intracranial hemorrhage, Meningocele	ORPHA:2481
Noonan Syndrome 4	Depressed nasal bridge, Ventricular septal defect, Short stature, Large for gestational age, Cryp...	OMIM:610733
1Q21.1 Microdeletion Syndrome	Cataract, Iris coloboma	ORPHA:250989
Emanuel Syndrome	Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Astigmatism, Gastroesophageal refl...	OMIM:609029
Oculocerebrocutaneous Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia, Cleft ala nasi	OMIM:164180
Cohen Syndrome	Chorioretinal dystrophy, Iris coloboma	ORPHA:193
Warburg Micro Syndrome 2	Cataract, Prominent nasal bridge, Postnatal growth retardation, Cryptorchidism, Developmental cat...	OMIM:614225
Propionic Acidemia	Cardiomyopathy, Cerebellar hemorrhage	OMIM:606054
Duane-Radial Ray Syndrome	Cataract, Retinal coloboma, Iris coloboma	OMIM:607323
Primary Myelofibrosis	Portal hypertension, Pallor, Ecchymosis, Petechiae, Purpura	ORPHA:824
Trisomy 18	Microcornea, Cyclopia, Cataract, Iris coloboma	ORPHA:3380
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Broad nasal tip, Wide nasal bridge, Growth delay, Elevated circulating alkaline phosphatase conce...	OMIM:615716
Weill-Marchesani Syndrome	Cataract, Ventricular septal defect, Short stature, Ectopia lentis, Pulmonic stenosis, Aortic val...	ORPHA:3449
Microcephaly-Cardiomyopathy Syndrome	Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect, Short stature	ORPHA:2515
Potocki-Shaffer Syndrome	Short nose, Wide nasal bridge, Underdeveloped nasal alae	OMIM:601224
Trichothiodystrophy 4, Nonphotosensitive	Anteverted nares, Ventricular septal defect, Microcornea, Growth delay, Keratoconjunctivitis sicc...	OMIM:234050
Microphthalmia With Limb Anomalies	Anophthalmia, Depressed nasal bridge, Unilateral cryptorchidism, Postnatal growth retardation, Fl...	OMIM:206920
Encephalocraniocutaneous Lipomatosis	Atrial septal defect, Ventricular septal defect, Sclerocornea, Cryptorchidism, Hypoplasia of the ...	OMIM:613001
Hypophosphatasia, Infantile	Intracranial hemorrhage, Stillbirth	OMIM:241500
Stickler Syndrome Type 1	Short nose, Cataract, Mitral valve prolapse	ORPHA:90653
Filippi Syndrome	Wide nose, Severe short stature, Ventricular septal defect, Prominent nasal bridge, Supernumerary...	ORPHA:3255
Fetal Alcohol Syndrome	Anteverted nares, Short stature, Atrial septal defect, Microphthalmia, Short nose, Intrauterine g...	ORPHA:1915
Pilarowski-Bjornsson Syndrome	Abnormal repetitive mannerisms	OMIM:617682
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Abnormal lymphatic vesse...	ORPHA:464329
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormal repetitive mannerisms, Dysphagia	ORPHA:572013
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:620242
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cataract, Iris coloboma	ORPHA:2250
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
20P12.3 Microdeletion Syndrome	Atrial septal defect, Depressed nasal bridge, Wide nasal bridge, Short stature	ORPHA:261295
Dentici-Novelli Neurodevelopmental Syndrome	Abnormal repetitive mannerisms	OMIM:619877
3-Methylglutaconic Aciduria, Type Viii	Cataract, Jaundice, Growth delay, Dysphagia, Neonatal death, Failure to thrive	OMIM:617248
Double Outlet Right Ventricle	Hypoparathyroidism, Cyanosis, Depressed nasal bridge, Ventricular septal defect, Short stature, T...	ORPHA:3426
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Wide nose, Anteverted nares, Small for gestational age, Dorsocervical fat pad, Proportionate shor...	ORPHA:391408
Megabladder, Congenital	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa...	OMIM:618719
Intellectual Developmental Disorder, Autosomal Dominant 47	Ventricular septal defect, Small for gestational age, Prominent nasal bridge, Supernumerary nippl...	OMIM:617635
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Iris coloboma	ORPHA:1236
Bor Syndrome	Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th...	ORPHA:107
Leptospirosis	Hepatomegaly, Pericarditis, Jaundice, Diarrhea, Hepatitis, Uveitis, Chorioretinitis, Hyperprotein...	ORPHA:509
2Q31.1 Microdeletion Syndrome	Coloboma, Optic disc coloboma, Iris coloboma	ORPHA:251014
Holoprosencephaly	Anophthalmia, Abnormality of the spleen, Depressed nasal ridge, Absent nares, Gastroesophageal re...	ORPHA:2162
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t...	ORPHA:276621
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Short stature, Situs inversus totalis, Cryptorchidism, Cardiomyopathy,...	OMIM:249270
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia	ORPHA:208447
Menkes Disease	Intracranial hemorrhage	OMIM:309400
Anemia, Congenital Dyserythropoietic, Type Iiia	Increased circulating lactate dehydrogenase concentration, Jaundice, Reduced haptoglobin level	OMIM:105600
Tyrosinemia Type 2	Corneal opacity	ORPHA:28378
Mosaic Variegated Aneuploidy Syndrome 2	Depressed nasal bridge, Small for gestational age, Decreased response to growth hormone stimulati...	OMIM:614114
Parkes Weber Syndrome	Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac...	ORPHA:90307
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Autoimmune Hemolytic Anemia, Warm Type	Congestive heart failure, Tachycardia, Pallor	ORPHA:90033
Crimean-Congo Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Conjunctivitis, Cholecystitis, Ecchymosis, He...	ORPHA:99827
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Depressed nasal bridge, Ventricular septal defect, Cryptorchidism, Abnormal mesentery morphology,...	ORPHA:2256
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cachexia, Cardiomegaly, ...	ORPHA:75565
Stormorken Syndrome	Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Bruising susceptibility	OMIM:185070
Linear Nevus Sebaceus Syndrome	Iris coloboma	ORPHA:2612
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia, Pallor	ORPHA:90036
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Cardiofaciocutaneous Syndrome 3	Ventricular septal defect, Short stature, Pulmonic stenosis, Atrial septal defect, Hypertrophic c...	OMIM:615279
Hallermann-Streiff Syndrome	Optic disc coloboma, Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:234100
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor...	OMIM:256800
Bardet-Biedl Syndrome 2	Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve, Obesity	OMIM:615981
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Intellectual Developmental Disorder, Autosomal Recessive 73	Ventricular septal defect	OMIM:619717
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Peritonitis, Diarrhea, Elevated circulating creatinine concentration, Bloody diarrh...	ORPHA:90038
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr...	ORPHA:93111
Al-Raqad Syndrome	Atrial septal defect, Chronic constipation, Short nose	OMIM:616459
Macrocephaly/Autism Syndrome	Hepatomegaly, Depressed nasal bridge, Large for gestational age, Splenomegaly, Obesity, Hydrocele...	OMIM:605309
Scheie Syndrome	Corneal opacity	ORPHA:93474
Heart And Brain Malformation Syndrome	Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Wide nasal bridge, Growth de...	OMIM:616920
Lethal Congenital Contracture Syndrome 5	Subdural hemorrhage, Retinal hemorrhage	OMIM:615368
19Q13.11 Microdeletion Syndrome	Cataract, Ventricular septal defect, Cachexia, Supernumerary nipple, Underdeveloped nasal alae, C...	ORPHA:217346
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplastic tricuspid valve, Failure to thrive, Double outlet left ventricle, Small for gestation...	ORPHA:2255
Autosomal Recessive Cutis Laxa Type 2A	Abnormal cornea morphology, Corneal opacity	ORPHA:357058
Adams-Oliver Syndrome 2	Depressed nasal bridge, Cutis marmorata, Bulbous nose, Developmental cataract, Microphthalmia	OMIM:614219
Al Kaissi Syndrome	Depressed nasal bridge, Short stature, Broad nasal tip, Postnatal growth retardation, Wide nasal ...	OMIM:617694
Micro Syndrome	Cataract, Anteverted nares, Short stature, Cryptorchidism, Wide nasal bridge, Microcornea, Delaye...	ORPHA:2510
Teebi Hypertelorism Syndrome 1	Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Short stature, Wide nasal br...	OMIM:145420
Acquired Idiopathic Sideroblastic Anemia	Congestive heart failure, Pallor	ORPHA:75564
Ramos-Arroyo Syndrome	Atrial septal defect, Severe short stature, Anteverted nares, Depressed nasal bridge, Keratitis, ...	ORPHA:1051
Curry-Jones Syndrome	Iris coloboma	OMIM:601707
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Recurrent upper respiratory tract infections, Biliary tract abnorma...	OMIM:209920
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Anteverted nares, Depressed nasal bridge, Ventricular septal defect, Short stature, Abnormality o...	ORPHA:75389
Maxillonasal Dysplasia	Depressed nasal bridge, Depressed nasal ridge, Short columella, Abnormal nostril morphology, Shor...	ORPHA:1248
Microcephaly 26, Primary, Autosomal Dominant	Short stature, Prominent nasal bridge, Wide nasal bridge, Chronic constipation, Short nose, Failu...	OMIM:619179
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Anteverted nares, Small for gestational age, Ventricular septal defect, Cardiomegaly, Wide nasal ...	OMIM:616897
Intellectual Developmental Disorder, Autosomal Recessive 65	Prominent nasal bridge, Supernumerary nipple, Secundum atrial septal defect, Cryptorchidism, Bulb...	OMIM:618109
Camptodactyly Syndrome, Guadalajara Type 1	Depressed nasal bridge, Short stature, Anteverted nares, Microcornea, Intrauterine growth retarda...	ORPHA:1327
Spherocytosis, Type 5	Splenomegaly, Jaundice	OMIM:612690
Infant Botulism	Keratoconjunctivitis sicca, Mydriasis	ORPHA:178478
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:619053
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Cataract, Elevated circulating creatine kinase concentration, Abnormally large globe	OMIM:615249
Letterer-Siwe Disease	Stomatitis, Jaundice, Hepatosplenomegaly	OMIM:246400
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Shallow anterior chamber	OMIM:267760
Tarp Syndrome	Anteverted nares, Wide nasal bridge, Tetralogy of Fallot, Neonatal death, Hepatic failure, Atrial...	OMIM:311900
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Bicuspid aortic valve, Short stature, Chronic constipation, Hypoplastic left heart, Gastroesophag...	OMIM:619721
Dravet Syndrome	Pallor	ORPHA:33069
Nance-Horan Syndrome	Cataract, Prominent nasal bridge, Prominent nose, Microcornea, Microphthalmia	ORPHA:627
Aspergillosis	Intracranial hemorrhage, Stroke	ORPHA:1163
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Hypoplastic left heart, Dysphagia, Intrauterine growth retardation, Hy...	OMIM:616276
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Short stature, Wide nasal bridge, Buphthalmos, Atrial septal defect, Intrauterine growth retardat...	OMIM:618005
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Pulmonary valve a...	ORPHA:210122
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Abnormal repetitive mannerisms	ORPHA:411986
Wiedemann-Steiner Syndrome	Wide nose, Short stature, Broad nasal tip, Postnatal growth retardation, Cryptorchidism, Bulbous ...	OMIM:605130
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Asplenia, Situs inversus totalis...	OMIM:208530
Miller-Dieker Syndrome	Growth delay, Short nose, Anteverted nares	ORPHA:531
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Recurrent pharyngitis, Jaundice, Myocarditis, Diar...	ORPHA:2331
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Overweight, Recurrent upper respiratory tract infections, Astigmatism,...	OMIM:619769
Severe X-Linked Intellectual Disability, Gustavson Type	Ventricular septal defect, Small for gestational age, Recurrent upper respiratory tract infection...	ORPHA:3078
Oculocerebral Hypopigmentation Syndrome, Cross Type	Cataract, Corneal opacity, Ocular albinism, Choroideremia, Iris hypopigmentation	ORPHA:2719
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cardiomyopathy, Cerebellar hemorrhage	OMIM:251000
Kaufman Oculocerebrofacial Syndrome	Anteverted nares, Depressed nasal bridge, Ventricular septal defect, Short stature, Microcornea, ...	OMIM:244450
Nemaline Myopathy 9	Ventricular septal defect	OMIM:615731
Ritscher-Schinzel Syndrome 3	Anteverted nares, Postnatal growth retardation, Cryptorchidism, Chorioretinal coloboma, Microphth...	OMIM:619135
Lessel-Kreienkamp Syndrome	Bicuspid aortic valve, Wide nasal bridge, Gastroesophageal reflux, Pulmonic stenosis, Atrial sept...	OMIM:619149
Proboscis Lateralis	Cataract, Corneal opacity, Optic disc coloboma, Microcornea, Chorioretinal coloboma, Cyclopia, Ir...	ORPHA:141099
Pituitary Hormone Deficiency, Combined, 6	Ectopic posterior pituitary, Posterior pituitary hypoplasia, Short stature, Hyperbilirubinemia	OMIM:613986
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:98784
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Mic...	ORPHA:2470
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Chronic diarrhea, Abnorma...	ORPHA:457279
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Short stature, Depressed nasal ridge, Microphthalmia, Short nose, Intrauterine growth...	OMIM:300863
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsiv...	OMIM:300986
Fanconi Anemia, Complementation Group Q	Growth delay, Short stature, Biliary atresia, Primum atrial septal defect	OMIM:615272
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Anteverted nares, Short stature, Broad nasal tip, Postnatal growth retardation, Abnormal subcutan...	ORPHA:357074
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Cryptorchidism, Short nose, Anteverted nares, Wide nasal bridge	OMIM:618577
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Decreased response to growth ho...	OMIM:147250
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia	ORPHA:713
Oculogastrointestinal Neurodevelopmental Syndrome	Bicuspid aortic valve, Short stature, Bilateral microphthalmos, Unilateral microphthalmos, Low ha...	OMIM:619318
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Abnormal nasal morphology, Ventricular septal defect, Abnormal cardiac septum morphology, Depress...	ORPHA:83473
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Short nose, Patent foramen ovale, Poor wound healing, Mitral valve prolapse	OMIM:615539
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Spina bifida occulta, Subdural hemorrhage	OMIM:618291
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Abnormal repetitive mannerisms, Self-mutilation	ORPHA:457240
17P13.3 Microduplication Syndrome	Wide nose, Short nose	ORPHA:217385
Coffin-Siris Syndrome 7	Wide nose, Depressed nasal bridge, Anteverted nares, Bicuspid aortic valve, Ventricular septal de...	OMIM:618027
Basel-Vanagaite-Smirin-Yosef Syndrome	Cataract, Anteverted nares, Ventricular septal defect, Microcornea, Gastroesophageal reflux, Cons...	OMIM:616449
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Cataract, Depressed nasal bridge, Short stature, Gastroesophageal reflux, Intrauterine growth ret...	OMIM:619833
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Short nose, Failure to thrive, Cataract	ORPHA:544503
Gm1 Gangliosidosis	Corneal opacity, Depressed nasal bridge, Ventricular septal defect, Broad nasal tip, Short statur...	ORPHA:354
Juvenile Sialidosis Type 2	Cataract, Corneal opacity	ORPHA:93399
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Bilateral cryptorchidism, Obesity, Astigmatism, Atrial septal defe...	OMIM:619471
1P31P32 Microdeletion Syndrome	Intraventricular hemorrhage, Moyamoya phenomenon	ORPHA:401986
Neurooculorenal Syndrome	Iris atrophy, Ectopic posterior pituitary, Dextrocardia, Conjugated hyperbilirubinemia, Cryptorch...	OMIM:620305
Craniofacial-Deafness-Hand Syndrome	Depressed nasal ridge, Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Short nose	ORPHA:1529
Dubowitz Syndrome	Hypoplasia of the iris, Megalocornea, Iris coloboma	OMIM:223370
Intellectual Developmental Disorder, X-Linked 30	Short nose, Anteverted nares, Prominent nasal bridge, Short stature	OMIM:300558
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Cataract, Small for gestational age, Short stature, Chronic diarrhea, Tel...	OMIM:601675
Myelofibrosis	Pallor, Purpura	OMIM:254450
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense ...	ORPHA:1135
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Depressed nasal bridge, Ventricular septal defect, Bulbous nose, Wide nasal bridge, Chronic const...	OMIM:617061
Diamond-Blackfan Anemia 16	Atrial septal defect, Pulmonic stenosis	OMIM:617408
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Cataract, Depressed nasal bridge, Anteverted nares, Microphthalmia, Short nose	ORPHA:163649
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidis...	OMIM:235255
Snijders Blok-Campeau Syndrome	Prominent nose, Wide nasal bridge, Astigmatism, Perimembranous ventricular septal defect, Pulmoni...	OMIM:618205
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior	OMIM:618430
Irida Syndrome	Pallor	ORPHA:209981
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Cryptorchidism, Bifid nose, ...	ORPHA:228390
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose, Small for gestational age, Short stature	ORPHA:289266
Emanuel Syndrome	Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Growth delay, Astigmatism, Gastroe...	ORPHA:96170
Sponastrime Dysplasia	Aplasia of the nasal bone, Cataract, Small for gestational age, Anteverted nares, Depressed nasal...	ORPHA:93357
Hydroxykynureninuria	Abnormal repetitive mannerisms	ORPHA:79155
3Q29 Microdeletion Syndrome	Cataract, Prominent nasal bridge, Gastroesophageal reflux, Subvalvular aortic stenosis, Microphth...	ORPHA:65286
8P23.1 Duplication Syndrome	Wide nose, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	ORPHA:251076
Mitochondrial Myopathy And Sideroblastic Anemia	Short nose, Delayed puberty	ORPHA:2598
Hypercholesterolemia, Familial, 3	Corneal arcus	OMIM:603776
Chromosome 1Q41-Q42 Deletion Syndrome	Depressed nasal bridge, Anteverted nares, Supernumerary nipple, Broad nasal tip, Ventricular sept...	OMIM:612530
Developmental And Epileptic Encephalopathy 64	Self-injurious behavior, Abnormal repetitive mannerisms, Bruxism	OMIM:618004
Ogden Syndrome	Abnormal head movements, Macrotia, Low-set ears	ORPHA:276432
Kagami-Ogata Syndrome	Hepatomegaly, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Splenomegaly, ...	OMIM:608149
Ctcf-Related Neurodevelopmental Disorder	Small for gestational age, Anteverted nares, Broad nasal tip, Cryptorchidism, Microcornea, Short ...	ORPHA:363611
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s...	OMIM:171300
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Cataract, Anteverted nares, Small for gestational age, Depressed nasal bridge, Short s...	OMIM:257300
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma	OMIM:215250
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Chorioretinal atrophy, Hepatitis,...	ORPHA:415
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Short stature, Microcornea, Iris transillumination defect, Decreased body weight, Micro...	OMIM:617306
Refsum Disease	Cataract, Splenomegaly, Anosmia, Cardiomyopathy, Microphthalmia	ORPHA:773
Encephalocraniocutaneous Lipomatosis	Corneal opacity, Iris coloboma	ORPHA:2396
Schimmelpenning-Feuerstein-Mims Syndrome	Coloboma, Corneal opacity	OMIM:163200
Galactosialidosis	Conjunctival telangiectasia, Opacification of the corneal stroma	OMIM:256540
22Q11.2 Deletion Syndrome	Hypoplasia of the thymus, Hypocalcemia, Gastroesophageal reflux, Atrial septal defect, Hypoparath...	ORPHA:567
Cutis Laxa, Autosomal Dominant 3	Corneal opacity, Developmental cataract	OMIM:616603
Hypercholesterolemia, Familial, 1	Corneal arcus	OMIM:143890
Carpenter Syndrome 1	Depressed nasal bridge, Ventricular septal defect, Short stature, Cryptorchidism, Obesity, Microc...	OMIM:201000
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defect	OMIM:616898
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He...	ORPHA:906
Hamel Cerebro-Palato-Cardiac Syndrome	Atrial septal defect, Bulbous nose, Short stature, Wide nasal bridge	ORPHA:93946
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperactivity disorder, Rec...	OMIM:619580
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Choanal atresia, Depressed nasal bridge, Short stature, Bilateral cryptorchidis...	OMIM:619859
Fg Syndrome 5	Chronic constipation, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:300581
Short Stature-Micrognathia Syndrome	Cataract, Ventricular septal defect, Short stature, Rhizomelia, Cryptorchidism, Astigmatism, Gast...	OMIM:617164
Listeriosis	Pericarditis, Liver abscess, Myocarditis, Jaundice, Peritonitis, Diarrhea, Endocarditis, Hepatic ...	ORPHA:533
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula...	OMIM:607941
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Anteverted nares, Diarrhea, Recurrent upper respiratory tract infections,...	OMIM:614069
Rift Valley Fever	Elevated hepatic transaminase, Hematemesis, Jaundice, Hepatitis, Uveitis, Melena	ORPHA:319251
Mucolipidosis Iii Gamma	Opacification of the corneal stroma	OMIM:252605
1Q41Q42 Microdeletion Syndrome	Depressed nasal bridge, Short stature, Underdeveloped nasal alae, Broad nasal tip, Cryptorchidism...	ORPHA:250999
Frontonasal Dysplasia 2	Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridge, Wide nasal r...	OMIM:613451
Bohring-Opitz Syndrome	Depressed nasal bridge, Anteverted nares, Supernumerary nipple, Ventricular septal defect, Short ...	OMIM:605039
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vasculitis, Retinal hemorrhage,...	ORPHA:33226
Neuhauser Syndrome	Iridodonesis, Depressed nasal bridge, Short stature, Wide nasal bridge, Hypoplasia of the iris, D...	OMIM:249310
Spondylodysplastic Ehlers-Danlos Syndrome	Corneal opacity, Posterior subcapsular cataract, Optic disc coloboma, Megalocornea, Iris coloboma	ORPHA:536471
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Choanal atresia, Short stature, Cryptorchidism, Hy...	OMIM:300712
Congenital Sialidosis Type 2	Cataract, Corneal opacity, Developmental cataract	ORPHA:93400
Fanconi Anemia, Complementation Group G	Growth delay, Microphthalmia	OMIM:614082
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Subarachnoid hemorrhage	OMIM:243700
3P25.3 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Prominent nose, Pulmonic ste...	ORPHA:435638
Multiple Sulfatase Deficiency	Cataract, Corneal opacity	ORPHA:585
4Q21 Microdeletion Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:238750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Cataract, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Myocardial ...	OMIM:253800
Hartsfield Syndrome	Microphthalmia, Depressed nasal bridge, Intrauterine growth retardation	ORPHA:2117
Cerebral Visual Impairment	Intracranial hemorrhage, Ischemic stroke	ORPHA:447788
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Spastic Paraplegia 29, Autosomal Dominant	Vomiting, Neonatal hyperbilirubinemia	OMIM:609727
Trichinellosis	Anisocoria, Conjunctival hyperemia, Conjunctivitis, Abnormal uvea morphology	ORPHA:863
Scalp-Ear-Nipple Syndrome	Anisocoria, Cataract, Iris coloboma, Developmental cataract	OMIM:181270
Houge-Janssens Syndrome 3	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618354
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal circulating albumin concentration	ORPHA:86839
Rhizomelic Limb Shortening With Dysmorphic Features	Rhizomelia, Wide nasal bridge, Patent foramen ovale, Obesity	OMIM:618821
Vici Syndrome	Wide nose, Cataract, Depressed nasal bridge, Elevated circulating creatine kinase concentration, ...	OMIM:242840
Cerebrotendinous Xanthomatosis	Cataract, Diarrhea, Abnormal circulating cholesterol concentration, Pseudobulbar paralysis, Chole...	OMIM:213700
Basal Cell Nevus Syndrome 1	Cataract, Iris coloboma	OMIM:109400
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Atrial septal defect, Slender build, Wide nasal bridge	OMIM:611087
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Short stature, Atrial septal...	OMIM:618870
Gomez-Lopez-Hernandez Syndrome	Short stature, Anteverted nares, Decreased response to growth hormone stimulation test, Opacifica...	OMIM:601853
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, V...	ORPHA:470
Fetal Valproate Spectrum Disorder	Short nose, Depressed nasal ridge	ORPHA:1906
Prune Belly Syndrome	Ventricular septal defect, Cryptorchidism, Tetralogy of Fallot, Constipation, Atrial septal defec...	ORPHA:2970
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale	OMIM:611363
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Hypoplastic right heart, Ventricular septal defect, Depressed nasal bridge, Atrial septal defect,...	OMIM:618142
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Cryptorchidism...	OMIM:619005
Non-Distal Duplication 13Q	Cryptorchidism, Short nose, Aplasia/Hypoplasia affecting the eye	ORPHA:1702
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect	OMIM:178370
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Tetralogy of Fallot, Mitral valve prolapse, G...	OMIM:612561
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cyanosis, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous ...	ORPHA:555874
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology	ORPHA:293807
Molybdenum Cofactor Deficiency, Complementation Group B	Molybdenum cofactor deficiency, Hypouricemia, Ectopia lentis, Lens luxation, Growth delay, Neonat...	OMIM:252160
Cystinosis	Corneal opacity	ORPHA:213
Developmental And Epileptic Encephalopathy 1	Growth delay, Microphthalmia, Dysphagia	OMIM:308350
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Wide nose, Overriding aorta, Bicuspid aortic valve, Failure to thrive in infancy, Ventricular sep...	ORPHA:477817
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nose, Depressed nasal bridge, Ventricular septal defect, Short stature, Broad nasal tip, Lon...	OMIM:619995
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria	OMIM:615510
Molybdenum Cofactor Deficiency, Complementation Group A	Reduced xanthine dehydrogenase level, Molybdenum cofactor deficiency, Hypouricemia, Ectopia lenti...	OMIM:252150
Meckel Syndrome	Accessory spleen, Anophthalmia, Pancreatic fibrosis, Cataract, Sclerocornea, Abnormal chorioretin...	ORPHA:564
Noonan Syndrome 5	Depressed nasal bridge, Short stature, Large for gestational age, Cryptorchidism, Pulmonic stenos...	OMIM:611553
Adnp Syndrome	Juvenile cataract, Astigmatism, Iris coloboma	ORPHA:404448
Noonan Syndrome 13	Anteverted nares, Cryptorchidism, Blue irides, Wide nasal bridge, Mitral valve prolapse, Gastroes...	OMIM:619087
Elliptocytosis 1	Splenomegaly, Jaundice	OMIM:611804
Mosaic Trisomy 1	Hepatic agenesis, Depressed nasal bridge, Ventricular septal defect, Wide nasal bridge, Opacifica...	ORPHA:1692
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Hepatomegaly, Slender nose, Severe short stature, Small for ...	OMIM:133540
Monosomy 13Q14	Cataract, Iris coloboma	ORPHA:1587
Pmm2-Cdg	Elevated hepatic transaminase, Pericarditis, Cataract, Anteverted nares, Prominent nasal bridge, ...	ORPHA:79318
Desbuquois Dysplasia 1	Severe short stature, Depressed nasal bridge, Developmental glaucoma, Obesity, Growth delay, Conc...	OMIM:251450
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Pallor	OMIM:611590
Hypercholesterolemia, Familial, 2	Corneal arcus	OMIM:144010
Alg9-Cdg	Hepatomegaly, Depressed nasal bridge, Ventricular septal defect, Rhizomelia, Underdeveloped nasal...	ORPHA:79328
Koolen-De Vries Syndrome	Cataract, Small for gestational age, Prominent nasal bridge, Bicuspid aortic valve, Ventricular s...	OMIM:610443
Retinoblastoma	Leukocoria	OMIM:180200
Cerebrooculofacioskeletal Syndrome 4	Failure to thrive in infancy, Prominent nasal bridge, Short stature, Bilateral microphthalmos, Ab...	OMIM:610758
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Short stature, Prominent nasal bridge, Cryptorchidism, Recurrent upper respiratory tract infectio...	OMIM:300534
Oculoauriculofrontonasal Syndrome	Wide nose, Ventricular septal defect, Underdeveloped nasal alae, Bifid nasal tip, Limbal dermoid	ORPHA:398156
Kleefstra Syndrome Due To 9Q34 Microdeletion	Anteverted nares, Cryptorchidism, Obesity, Conotruncal defect, Tetralogy of Fallot, Growth delay,...	ORPHA:96147
Rothmund-Thomson Syndrome, Type 2	Cataract, Small for gestational age, Depressed nasal bridge, Short stature, Cryptorchidism, Telan...	OMIM:268400
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Short stature, Depressed nasal ridge, Microphthalmia, Short nose, Intrauterine growth...	ORPHA:163966
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Anteverted nares, Obesity	OMIM:619854
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Short nose, Thick nasal alae, Chorioretinal coloboma, Dysphagia	ORPHA:163961
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short nose, Short stature, Cachexia	ORPHA:1389
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Hypoplastic tricuspid valve, Double outlet left ventricle, Truncus arteriosus...	OMIM:600001
Chromosome 14Q11-Q22 Deletion Syndrome	Unilateral cryptorchidism, Anterior pituitary hypoplasia, Depressed nasal bridge, Ventricular sep...	OMIM:613457
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Severe short stature, Small for gestational age, ...	OMIM:127000
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Lambotte Syndrome	Ocular anterior segment dysgenesis, Ventricular septal defect, Convex nasal ridge, Intrauterine g...	OMIM:245552
Mend Syndrome	Cataract, Short stature, Prominent nasal bridge, Cryptorchidism, Elevated 8-dehydrocholesterol, E...	ORPHA:401973
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Cataract, Anteverted nares, Ventricular septal defect, Bulbous nose, Wide nasal bridge, Atrial se...	OMIM:220500
Cranioacrofacial Syndrome	Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Rhizomelia, Postnatal growth retardation, Elevated 8-dehydrocholesterol, Elevated 8(9)-...	OMIM:302960
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Hypertyrosinemia, Cataract, Cholangitis, Microvesicular hepatic st...	OMIM:124000
Coffin-Siris Syndrome	Atrial septal defect, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Broad ...	ORPHA:1465
Woods Syndrome	Ventricular septal defect, Wide nasal bridge, Supernumerary nipple, Low hanging columella	OMIM:615236
Tetrasomy 9P	Absent gallbladder, Pericarditis, Abnormal chorioretinal morphology, Dextrocardia, Cryptorchidism...	ORPHA:3310
Trisomy 8P	Anteverted nares, Depressed nasal bridge, Abnormal atrioventricular connection, Cryptorchidism, R...	ORPHA:264450
Megalocornea-Intellectual Disability Syndrome	Iridodonesis, Short stature, Wide nasal bridge, Hypoplasia of the iris, Astigmatism, Hypercholest...	ORPHA:2479
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Enlarged ovaries, Wide nose, Anteverted nares, Prominent nas...	ORPHA:769
Paroxysmal Nocturnal Hemoglobinuria	Decreased serum iron, Abnormal erythrocyte enzyme level, Conjunctival icterus, Jaundice, Dysphagi...	ORPHA:447
Jansen-De Vries Syndrome	Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Short stature, Vomiting, Gast...	OMIM:617450
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Atrial septal defect, Constipation	OMIM:620094
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Cataract, Asplenia, Iridocyclit...	OMIM:240300
Juvenile Neuronal Ceroid Lipofuscinosis	Abnormal repetitive mannerisms, Dysphagia	ORPHA:79264
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Cutis marmorata, Short stature, Cardiomegaly, Developmental glauco...	ORPHA:51
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Aggressive behavior, Bulimia, Self-biting, Stereotypical body rocking, Bruxism, Re...	OMIM:300912
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Bicuspid aortic valve, Anteverted nares, Prominent nasal bridge, Ventricular septal defect, Crypt...	ORPHA:500159
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Short nose	ORPHA:2547
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia, Pallor	ORPHA:263455
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, He...	ORPHA:699
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ...	OMIM:615779
Multifocal Atrial Tachycardia	Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Hypertrophic ...	ORPHA:3282
Intellectual Developmental Disorder, Autosomal Dominant 38	Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms	OMIM:616393
Tyshchenko Syndrome	Ventricular septal defect, Short stature, Supernumerary nipple, Cryptorchidism, Pulmonic stenosis...	OMIM:615102
Knobloch Syndrome 1	Band keratopathy, Chorioretinal atrophy, Developmental cataract, Iris transillumination defect, L...	OMIM:267750
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Ventricular septal defect, Small for gestational age, Gastroesophageal ...	ORPHA:79243
Thyroid Ectopia	Short stature, Jaundice, Growth delay, Constipation, Ectopic thyroid	ORPHA:95712
Noonan Syndrome 7	Depressed nasal bridge, Short stature, Large for gestational age, Growth delay, Impaired orophary...	OMIM:613706
Trisomy 10P	Absent gallbladder, Anteverted nares, Small for gestational age, Depressed nasal bridge, Abnormal...	ORPHA:171929
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Agitation, Abnormal repetitive mannerisms	ORPHA:927
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Growth delay, Constipation, Hyperbilirubinemia, Ectopi...	OMIM:218700
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	OMIM:609054
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Short stature, Optic nerve hypoplasia, Decreased body weight, Microphthalmia, Mild short stature	OMIM:614833
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hydrocele testis, Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Opsismodysplasia	Hepatomegaly, Severe short stature, Depressed nasal bridge, Splenomegaly, Short nose	ORPHA:2746
Myoclonic-Astatic Epilepsy	Anteverted nares, Wide nasal bridge, Microphthalmia, Premature skin wrinkling, Thick nasal alae	ORPHA:1942
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Cyclopia, Iris coloboma	ORPHA:3186
Autosomal Recessive Omodysplasia	Anteverted nares, Depressed nasal bridge, Rhizomelia, Short stature, Cryptorchidism, Pterygium, S...	ORPHA:93329
Overhydrated Hereditary Stomatocytosis	Splenomegaly, Increased circulating lactate dehydrogenase concentration, Intermittent jaundice	ORPHA:3203
Achondrogenesis Type 1B	Short nose, Severe short stature, Anteverted nares, Disproportionate short stature	ORPHA:93298
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t...	ORPHA:29072
Frontoocular Syndrome	Atrial septal defect, Prominent nasal bridge, Pulmonic stenosis	OMIM:605321
Bainbridge-Ropers Syndrome	Anteverted nares, Prominent nasal bridge, Supernumerary nipple, Depressed nasal bridge, Underdeve...	OMIM:615485
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Anteverted nares, Decreased response to growth hormone stimulation test, Ventricula...	OMIM:602782
Cimdag Syndrome	Microvesicular hepatic steatosis, Developmental cataract, Cholelithiasis, Hepatomegaly	OMIM:619273
Cerebrotendinous Xanthomatosis	Abnormal circulating enzyme concentration or activity, Prematurely aged appearance, Chronic diarr...	ORPHA:909
Intellectual Developmental Disorder, Autosomal Dominant 21	Atrial septal defect, Cryptorchidism, Short stature	OMIM:615502
16P13.11 Microduplication Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:261243
Acute Liver Failure	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Jaundice, Diarrhea, Hepatitis, Hepati...	ORPHA:90062
Klippel-Trénaunay Syndrome	Atrial septal defect, Hepatomegaly, Abnormal tricuspid valve morphology, Gastrointestinal hemorrhage	ORPHA:90308
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Abnormally large globe, Broad nasal tip, Wide nasal bridge, Abnormal heart morphology, Elevated c...	OMIM:239300
Primary Pulmonary Hypoplasia	Cyanosis, Dextrocardia, Secundum atrial septal defect, Increased circulating surfactant protein l...	ORPHA:2257
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Prominent superficial veins, Bicuspid aortic valve, Depressed nasal ...	ORPHA:363705
Leukodystrophy, Hypomyelinating, 10	Bulbous nose, Failure to thrive, Anteverted nares, Short nose	OMIM:616420
Apolipoprotein A-I Deficiency	Opacification of the corneal stroma	ORPHA:425
Pallister-Hall-Like Syndrome	Anterior hypopituitarism, Short stature, Depressed nasal bridge, Short nose	OMIM:241800
Neuroocular Syndrome	Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ...	OMIM:619539
Desbuquois Syndrome	Severe short stature, Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Dispro...	ORPHA:1425
Hurler-Scheie Syndrome	Corneal opacity	OMIM:607015
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Broad nasal tip, Cyst of the ductus choledochus, Wide nasal bridge, Chronic constipation, Dermato...	OMIM:619480
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Anteverted nares, Short stature, Perimembranous ventricular septal defect, Transposition of the g...	OMIM:617877
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Wide nose, Cataract, Prominent nasal bridge, Ectopia lentis, Prominent nose, Sphero...	OMIM:601552
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pallor	OMIM:600462
Cerebrooculonasal Syndrome	Iris coloboma	OMIM:605627
Cold Agglutinin Disease	Pallor	ORPHA:56425
Tetrasomy 12P	Short nose, Short stature, Anteverted nares, Cachexia	ORPHA:884
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Fg Syndrome Type 1	Short stature, Optic nerve hypoplasia, Choanal atresia, Prominent nose, Facial wrinkling, Cryptor...	ORPHA:93932
Aarskog-Scott Syndrome	Anteverted nares, Short stature, Elevated circulating luteinizing hormone level, Bilateral crypto...	OMIM:305400
Diaphanospondylodysostosis	Depressed nasal bridge, Depressed nasal ridge, Disproportionate short-trunk short stature, Abnorm...	OMIM:608022
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Short stature, Pericardial effusion, Multiple muscular ventricular septal defects, Wide nasal bri...	OMIM:620070
Schuurs-Hoeijmakers Syndrome	Bicuspid aortic valve, Cryptorchidism, Bulbous nose, Abnormal cardiac septum morphology, Constipa...	OMIM:615009
Craniosynostosis, Herrmann-Opitz Type	Intrauterine growth retardation, Short nose, Short stature, Convex nasal ridge	ORPHA:2145
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Elevated hepatic transaminase, Anteverted nares, Cryptorchidism, Jaundice, Obesity	OMIM:614231
Meckel Syndrome 14	Cyanosis, Anteverted nares, Hepatic fibrosis, Microphthalmia, Single ventricle	OMIM:619879
Intellectual Developmental Disorder, Autosomal Dominant 48	Hyperactivity, Abnormal repetitive mannerisms	OMIM:617751
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cataract, Depressed nasal bridge, Choanal atresia, Short stature, Prominent nose, Cyst of the duc...	ORPHA:480880
Tatton-Brown-Rahman Syndrome	Ventricular septal defect, Anteverted nares, Optic nerve hypoplasia, Short columella, Atrial sept...	OMIM:615879
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Small for gestational age, Depressed nasal bridge, Exocrine pancreatic insuff...	OMIM:618500
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Ocular albinism, Wide nasal bridge, Abnormal cardiac septum morphology, Microphthalmia, Intrauter...	ORPHA:1352
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Broad nasal tip, Wide nasal bridge, Growth delay, Elevated circulating alkaline phosphatase conce...	OMIM:614749
Distal Renal Tubular Acidosis	Sensorineural hearing impairment, Polydipsia, Enlarged vestibular aqueduct	ORPHA:18
16P13.11 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Short stature, Cryptorchidis...	ORPHA:261236
17Q12 Microduplication Syndrome	Atrial septal defect, Microphthalmia	ORPHA:261272
Pde4D Haploinsufficiency Syndrome	Depressed nasal bridge, Prominent nose, Postnatal growth retardation, Cryptorchidism, Obesity, Pr...	ORPHA:439822
Achondrogenesis	Short nose, Severe short stature, Anteverted nares	ORPHA:932
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect, Microphthalmia, Peters anomaly	OMIM:614526
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor	OMIM:246450
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Prominent nasal bridge, Oral-pharyngeal dysphagia, Long nose, Postnatal growth retardation, Astig...	OMIM:619184
22Q11.2 Duplication Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors	ORPHA:1727
Costello Syndrome	Keratoconus, Depressed nasal bridge, Failure to thrive in infancy, Ventricular septal defect, Sho...	ORPHA:3071
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype...	ORPHA:340
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, ...	ORPHA:77293
Chromosome 5P13 Duplication Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive behaviors	OMIM:613174
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Short stature, Optic nerve hypoplasia, Prominent nasal bridge, Broad nasal tip, Abnormally large ...	OMIM:300749
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Dextrotransposition of the gr...	OMIM:618619
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Depressed nasal bridge, Anteverted nares, Decreased response to growth hormone stimulation test, ...	OMIM:615866
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Ventricular septal defect, Prominent nasal bridge, Short stature, Broad nasal tip, Cryptorchidism...	ORPHA:457193
Gaucher Disease Type 1	Hepatomegaly, Hypersplenism, Splenomegaly, Pericardial effusion, Growth delay, Cirrhosis, Delayed...	ORPHA:77259
Cardiofaciocutaneous Syndrome 1	Depressed nasal bridge, Anteverted nares, Short stature, Splenomegaly, Bulbous nose, Hypertrophic...	OMIM:115150
Ohdo Syndrome	Depressed nasal bridge, Anteverted nares, Short stature, Cryptorchidism, Wide nasal bridge, Short...	OMIM:249620
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Gastroesophageal reflux, Constipation, Short nose, Failure to thrive, Bro...	OMIM:617865
Pontocerebellar Hypoplasia, Type 8	Ventricular septal defect, Anteverted nares, Astigmatism, Gastroesophageal reflux, Constipation, ...	OMIM:614961
Juvenile Glaucoma	Abnormal anterior chamber morphology, Abnormality iris morphology	ORPHA:98977
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Cardiomegaly, Shor...	OMIM:232300
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Coloboma, Retinal coloboma, Iris coloboma	ORPHA:508498
Classic Homocystinuria	Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ...	ORPHA:394
Cebalid Syndrome	Anteverted nares, Short nose, Depressed nasal ridge, Depressed nasal bridge	OMIM:618774
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Short stature, Broad nasal tip, Wide nasal bridge, Elevated circulating alkaline phosphatase conc...	OMIM:614207
Martsolf Syndrome 1	Cataract, Depressed nasal bridge, Short stature, Broad nasal tip, Cryptorchidism, Developmental c...	OMIM:212720
Fibrochondrogenesis 1	Anteverted nares, Depressed nasal bridge, Rhizomelia, Stillbirth, Megalocornea, Patent foramen ov...	OMIM:228520
Absent Eyebrows And Eyelashes With Mental Retardation	Short nose, Convex nasal ridge	OMIM:200130
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Dysphagia	OMIM:254900
Fucosidosis	Corneal opacity	ORPHA:349
Diamond-Blackfan Anemia 8	Growth delay, Short nose, Short stature, Wide nasal bridge	OMIM:612563
Sanjad-Sakati Syndrome	Astigmatism, Corneal opacity	ORPHA:2323
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hypouricemia, Short stature, Large for gestational a...	OMIM:616026
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Conjunctival hyperemia, Depressed nasal bridge, Wide nasal bridge	OMIM:167730
Chromosome 10Q26 Deletion Syndrome	Small for gestational age, Short stature, Prominent nose, Postnatal growth retardation, Cryptorch...	OMIM:609625
Pallister-Hall Syndrome	Thyroid dysgenesis, Anteverted nares, Decreased response to growth hormone stimulation test, Depr...	OMIM:146510
Smith-Lemli-Opitz Syndrome	Cataract, Anteverted nares, Choanal atresia, Sclerocornea, Ventricular septal defect, Cutis marmo...	ORPHA:818
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Hypertriglyceridemia, Depressed nasal bridge, Hypercalcemia, Obesity, Wide na...	ORPHA:369837
Axenfeld-Rieger Syndrome, Type 2	Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae	OMIM:601499
Diabetic Embryopathy	Ventricular septal defect, Cryptorchidism, Abnormality of the pancreas, Tetralogy of Fallot, Tran...	ORPHA:1926
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Abnormal repetitive mannerisms	OMIM:617807
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Jacobsen Syndrome	Microcornea, Cataract, Iris coloboma	ORPHA:2308
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Cutis marmorata, Broad nasal tip, Bifid nasal tip, Secundum atrial septal defect, Growth delay, H...	OMIM:619758
Prader-Willi Syndrome Due To Translocation	Narrow nasal bridge, Underdeveloped nasolabial fold, Anteverted nares, Decreased response to grow...	ORPHA:177907
Intellectual Developmental Disorder, Autosomal Dominant 52	Abnormal repetitive mannerisms, Hyperactivity, Obsessive-compulsive trait, Pica	OMIM:617796
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Cryptorchidism, Tetralogy of Fallot, Ventricular septal defect, Short stature	ORPHA:1166
Moebius Syndrome	Abnormal nasopharynx morphology, Depressed nasal bridge, Dysphagia, Microphthalmia, Decreased tes...	OMIM:157900
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Ventricular septal defect, Prominent nasal bridge, Short stature, Bulbous nose, Wide nasal bridge...	OMIM:617360
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Corneal opacity, Prominent nasal bridge, Underdeveloped nasal alae, Bulbous nose, Short columella...	ORPHA:364577
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of righ...	OMIM:616749
Lowe Oculocerebrorenal Syndrome	Increased circulating lactate dehydrogenase concentration, Short stature, Elevated circulating cr...	OMIM:309000
19P13.3 Microduplication Syndrome	Ventricular septal defect, Unilateral cryptorchidism, Underdeveloped nasal alae, Prominent nose, ...	ORPHA:447980
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Depressed nasal bridge, Complete atrioventricular canal defect, Absent nasal ...	OMIM:617925
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Repetitive compulsive behavior, Abnormal repetitive mannerisms, Dysphagia, Bruxism	OMIM:300260
Marden-Walker Syndrome	Anteverted nares, Dextrocardia, Postnatal growth retardation, Cryptorchidism, Microphthalmia, Int...	OMIM:248700
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Depressed nasal bridge, Anteverted nares, Short stature, Diarrhea, Short nose, Failure to thrive	OMIM:242860
Mirage Syndrome	Intracranial hemorrhage, Patent ductus arteriosus, Petechiae	OMIM:617053
Chromosome 18Q Deletion Syndrome	Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Depressed na...	OMIM:601808
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Dilated cardiomyopathy, Left ventricular noncompaction, Neonatal death, Left ventri...	OMIM:619167
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Abnormal repetitive mannerisms, Dysphagia	OMIM:617802
Chromosome 13Q33-Q34 Deletion Syndrome	Small for gestational age, Choanal atresia, Short stature, Cryptorchidism, Wide nasal bridge, Pul...	OMIM:619148
Anemia, Hypochromic Microcytic, With Iron Overload 2	Pallor	OMIM:615234
Wolf-Hirschhorn Syndrome	Megalocornea, Iris coloboma, Sclerocornea	ORPHA:280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Cataract, Elevated circulating creatine kinase concentration	OMIM:616538
Achondrogenesis Type 1A	Short nose, Severe short stature, Anteverted nares	ORPHA:93299
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Small for gestational age, Short stature, Cryptorchidism, Hyperuricemia, ...	OMIM:300661
Cri-Du-Chat Syndrome	Hyperactivity, Aggressive behavior, Abnormal repetitive mannerisms, Self-mutilation, Oppositional...	OMIM:123450
Kleefstra Syndrome	Anteverted nares, Bicuspid aortic valve, Supernumerary nipple, Ventricular septal defect, Bowel i...	ORPHA:261494
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Prominent superficial veins, Corneal opacity, Prominent nasal bridge, ...	OMIM:601812
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Postnatal growth retardation, Cryptorchidism, Atrial septal defect, Microphthalmia, Intrauterine ...	ORPHA:2728
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death	OMIM:620203
Lipodystrophy, Familial Partial, Type 7	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Small for gestational age, Cataract, N...	OMIM:606721
Timothy Syndrome	Depressed nasal bridge, Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallo...	OMIM:601005
Noonan Syndrome 3	Hypoplastic nasal bridge, Anteverted nares, Ventricular septal defect, Short stature, Cryptorchid...	OMIM:609942
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Atrial septal defect, Short stature	OMIM:113301
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Anteverted nares, Choanal atresia, Ventricular septal defect, Short stature, Cryptorchidism, Bulb...	OMIM:616975
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Cataract, Mild postnatal growth retardation, Splenom...	ORPHA:90324
Treacher-Collins Syndrome	Cataract, Iris coloboma	ORPHA:861
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Chronic pancrea...	ORPHA:98908
15Q14 Microdeletion Syndrome	Ventricular septal defect, Prominent nasal bridge, Short stature, Atrial septal defect, Convex na...	ORPHA:261190
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Corneal crystals	OMIM:219900
Baraitser-Winter Syndrome 2	Microphthalmia, Short stature	OMIM:614583
Pentalogy Of Cantrell	Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Polysplenia, Atri...	ORPHA:1335
Bannayan-Riley-Ruvalcaba Syndrome	Angina pectoris, Telangiectasia, Intracranial hemorrhage, Arteriovenous malformation, Subcutaneou...	ORPHA:109
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Depressed nasal bridge, Ventricular septal defect, Broad nasal tip, Hydrocele t...	OMIM:601927
Mandibulofacial Dysostosis, Guion-Almeida Type	Ventricular septal defect, Anteverted nares, Choanal atresia, Short stature, Atrial septal defect...	OMIM:610536
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short nose, Short stature, Wide nasal bridge	OMIM:614078
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Neurodevelopmental Disorder With Language Delay And Seizures	Growth delay, Cryptorchidism, Ventricular septal defect, Hypomagnesemia	OMIM:619908
Musculocontractural Ehlers-Danlos Syndrome	Abnormal heart valve morphology, Cryptorchidism, Abnormal mesentery morphology, Abnormal heart mo...	ORPHA:2953
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Abnormal heart morphology	DECIPHER:52
Gorlin-Chaudhry-Moss Syndrome	Astigmatism, Sclerocornea	ORPHA:2095
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Anteverted nares, Short nose, Dysphagia	OMIM:614744
Radio-Tartaglia Syndrome	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Ventricular septal defect, Bulb...	OMIM:619312
Oculodentodigital Dysplasia	Narrow nasal bridge, Cataract, Anteverted nares, Underdeveloped nasal alae, Uveitis, Microcornea,...	OMIM:164200
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Cataract, Depressed nasal bridge, Choanal atresia, Short stature, Prominent nose, Bulbous nose, W...	OMIM:300968
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short stature, Optic nerve hypoplasia, Convex nasal ridge, Abdominal obesity, Hypoplasia of the o...	OMIM:619321
Smith-Kingsmore Syndrome	Rhizomelia, Depressed nasal bridge, Large for gestational age, Cryptorchidism, Short nose	OMIM:616638
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Frequent temper tantrums, Attention deficit hyperactivity disorder, Abnormal repetitive mannerism...	OMIM:619103
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Short nose, Short stature	ORPHA:1514
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Prominent nasal bridge, Underdeveloped nasal alae, Cryptorchidism, Growth delay, Intrauterine gro...	ORPHA:2083
48,Xxyy Syndrome	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:10
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Small for gestational age, Prominent nose, Secundum atrial septal defect, Chorioretinal coloboma,...	OMIM:620194
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:614262
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:619121
Hypotonia, Infantile, With Psychomotor Retardation	Cryptorchidism, Ventricular septal defect	OMIM:616816
Frontonasal Dysplasia 3	Microphthalmia, Wide nasal bridge, Underdeveloped nasal alae	OMIM:613456
Microsporidiosis	Cholangitis, Cachexia, Nausea, Keratitis, Abnormality of the spleen, Abnormality of the parathyro...	ORPHA:2552
Thanatophoric Dysplasia	Atrial septal defect, Intrauterine growth retardation, Depressed nasal bridge, Disproportionate s...	ORPHA:2655
Gapo Syndrome	Keratoconus, Hepatomegaly, Prominent scalp veins, Anteverted nares, Depressed nasal bridge, Growt...	OMIM:230740
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Ventricular septal defect, Short stature, Secundum atrial septal defect, Perimembranous ventricul...	OMIM:600987
Mucopolysaccharidosis Type 7	Corneal opacity	ORPHA:584
Retinoblastoma	Hypopyon, Heterochromia iridis, Leukocoria, Uveitis	ORPHA:790
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Anophthalmia, Cataract, Optic nerve hypoplasia, Short stature, Crypt...	OMIM:610125
Hereditary Folate Malabsorption	Pallor, Eosinophilia	ORPHA:90045
Cockayne Syndrome	Lentiglobus, Gastroesophageal reflux, Hepatomegaly, Cryptorchidism, Abnormal cornea morphology, D...	ORPHA:191
17Q23.1Q23.2 Microdeletion Syndrome	Depressed nasal bridge, Short stature, Bulbous nose, Gastroesophageal reflux, Bifid nose, Atrial ...	ORPHA:261279
20Q13.33 Microdeletion Syndrome	Small for gestational age, Failure to thrive in infancy, Bulbous nose, Abnormal cardiac ventricle...	ORPHA:261311
Nance-Horan Syndrome	Prominent nasal bridge, Prominent nose, Developmental cataract, Microcornea, Posterior Y-sutural ...	OMIM:302350
Multiple Sulfatase Deficiency	Corneal opacity	OMIM:272200
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Wide nose, Depressed nasal ridge, Short nose	ORPHA:2831
Zechi-Ceide Syndrome	Atrial septal defect, Wide nose, Wide nasal bridge, Abnormal heart morphology	ORPHA:217017
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Atrial septal defect, Failure to thrive	ORPHA:500533
Lujan-Fryns Syndrome	Macroorchidism, Atrial septal defect, Prominent nasal bridge	ORPHA:776
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Obsessive-compulsive trait, Abnormal repetitive mannerisms, Aggressive behavior	ORPHA:168491
Rett Syndrome	Agitation, Abnormal repetitive mannerisms, Stereotypical hand wringing	ORPHA:778
Chromosome 13Q14 Deletion Syndrome	Iris coloboma, Chorioretinal coloboma	OMIM:613884
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Desmosterolosis	Severe short stature, Depressed nasal bridge, Abnormality of the nose, Splenomegaly, Anomalous pu...	ORPHA:35107
Mandibulofacial Dysostosis-Microcephaly Syndrome	Atrial septal defect, Short nose, Short stature	ORPHA:79113
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Depressed nasal bridge, Wide nasal bridge, Hepatosplenomegaly, Atrial septal defect, Wide nasal base	ORPHA:397709
Arthrogryposis, Distal, Type 2A	Small for gestational age, Underdeveloped nasal alae, Postnatal growth retardation, Cryptorchidis...	OMIM:193700
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Abnormal repetitive mannerisms	OMIM:619428
Dermotrichic Syndrome	Short nose, Depressed nasal bridge, Proportionate short stature	ORPHA:99688
Okamoto Syndrome	Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Underdeveloped nasal alae, A...	ORPHA:2729
Khan-Khan-Katsanis Syndrome	Short stature, Corneal scarring, Dysphagia, Buphthalmos, Peters anomaly, Intrauterine growth reta...	OMIM:618460
Mucopolysaccharidosis, Type Ivb	Corneal opacity, Opacification of the corneal stroma	OMIM:253010
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Anophthalmia, Abnormality of the spleen, Growth delay, Gastroesophageal reflux, Eso...	ORPHA:2538
Limb Body Wall Complex	Lens subluxation, Corneal opacity, Iris coloboma	ORPHA:2369
Monosomy 18P	Microphthalmia, Short stature, Wide nasal bridge	ORPHA:1598
Jaberi-Elahi Syndrome	Short nose, Failure to thrive, Depressed nasal bridge, Cataract	OMIM:617988
Intellectual Developmental Disorder, Autosomal Dominant 1	Short stature, Prominent nose, Postnatal growth retardation, Bulbous nose, Depressed nasal ridge,...	OMIM:156200
Bohring-Opitz Syndrome	Anteverted nares, Depressed nasal bridge, Short stature, Cardiomegaly, Wide nasal bridge, Abnorma...	ORPHA:97297
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Anteverted nares, Ventricular septal defect, Cutis marmorata, Cryptorchidism, Intrauterine growth...	OMIM:612938
Noonan Syndrome 12	Tetralogy of Fallot, Ventricular septal defect, Decreased response to growth hormone stimulation ...	OMIM:618624
Pterygium Colli, Isolated	Short nose	OMIM:177990
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia	OMIM:301083
Combined Oxidative Phosphorylation Deficiency 25	Depressed nasal bridge, Anteverted nares, Short stature, Wide nasal bridge, Chronic constipation,...	OMIM:616430
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Eosinophilia, Syncope, Pallor, Hypotension	ORPHA:98849
Hajdu-Cheney Syndrome	Cataract, Iris coloboma	ORPHA:955
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Buphthalmos, Coloboma, Peters anomaly, Megalocornea	OMIM:236670
Ritscher-Schinzel Syndrome 4	Impulsivity, Abnormal repetitive mannerisms, Dysphagia, Aggressive behavior	OMIM:619435
Fryns Syndrome	Ectopic pancreatic tissue, Anteverted nares, Ventricular septal defect, Large for gestational age...	OMIM:229850
Geleophysic Dysplasia 2	Hepatomegaly, Mitral stenosis, Tricuspid stenosis, Short stature, Mitral valve prolapse, Aortic v...	OMIM:614185
Melanocytic Nevus Syndrome, Congenital	Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip	OMIM:137550
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia, Complete atrioventricular canal defect, Chronic constipation, Short nose, Failure ...	ORPHA:476126
Congenital Erythropoietic Porphyria	Splenomegaly, Abnormal circulating porphyrin concentration, Severe photosensitivity, Keratoconjun...	ORPHA:79277
Acrodysostosis	Anteverted nares, Depressed nasal bridge, Short stature, Cryptorchidism, Depressed nasal ridge, W...	ORPHA:950
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Atrial septal defect, Failure to thrive, Pulmonic stenosis	OMIM:619239
Waardenburg Syndrome Type 1	Underdeveloped nasal alae, Wide nasal bridge, Premature graying of hair, Short nose, Heterochromi...	ORPHA:894
Kyphoscoliotic Ehlers-Danlos Syndrome	Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, ...	ORPHA:536545
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	OMIM:300486
Trigonocephaly 1	Short nose, Wide nasal bridge	OMIM:190440
Zttk Syndrome	Absent gallbladder, Depressed nasal bridge, Ventricular septal defect, Short stature, Chronic dia...	OMIM:617140
Serotonin Syndrome	Mydriasis	ORPHA:43116
Skraban-Deardorff Syndrome	Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Constipation	OMIM:617616
Charge Syndrome	Mixed hearing impairment, Facial palsy, Aplasia of the semicircular canal, Sensorineural hearing ...	OMIM:214800
Joubert Syndrome 22	Microphthalmia, Intrauterine growth retardation	OMIM:615665
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Bifid nasal tip, Complete atr...	OMIM:619343
8P Inverted Duplication/Deletion Syndrome	Anteverted nares, Dextrocardia, Cryptorchidism, Wide nasal bridge, Abnormal heart morphology, Apl...	ORPHA:96092
Menkes Disease	Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp...	ORPHA:565
Desmosterolosis	Hypoplastic nasal bridge, Anteverted nares, Rhizomelia, Abnormal circulating cholesterol concentr...	OMIM:602398
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Frank-Ter Haar Syndrome	Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Broad nasal tip, Abnormally ...	OMIM:249420
Beta-Ketothiolase Deficiency	Hypertension, Pallor, Hypotension	ORPHA:134
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Depressed nasal bridge, Myopic astigmatism, Obesity, Hepatosplenomegaly, Chronic co...	OMIM:301066
Tay-Sachs Disease	Pallor	OMIM:272800
Braddock-Carey Syndrome 2	Microphthalmia, Bulbous nose	OMIM:619981
Congenital Disorder Of Glycosylation, Type Ig	Wide nose, Small for gestational age, Rhizomelia, Cryptorchidism, Recurrent upper respiratory tra...	OMIM:607143
Microphthalmia, Syndromic 2	Anophthalmia, Ventricular septal defect, Prominent nasal bridge, Dextrocardia, Broad nasal tip, B...	OMIM:300166
Blepharophimosis-Impaired Intellectual Development Syndrome	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Overfriendliness	OMIM:619293
Developmental Delay With Or Without Dysmorphic Facies And Autism	Depressed nasal bridge, Anteverted nares, Supernumerary nipple, Prominent nasal bridge, Ventricul...	OMIM:618454
Miller-Dieker Lissencephaly Syndrome	Cataract, Anteverted nares, Cryptorchidism, Wide nasal bridge, Abnormal heart morphology, Intraut...	OMIM:247200
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, De...	OMIM:619127
Hajdu-Cheney Syndrome	Iris coloboma	OMIM:102500
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:616277
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Gastroesophageal reflux, Iris coloboma, Sh...	ORPHA:268261
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Short stature, Facial telangiectasia, Short nose, Failure to thrive	OMIM:615851
Elliptocytosis 3	Intermittent jaundice	OMIM:617948
Teebi Hypertelorism Syndrome 2	Short nose, Depressed nasal bridge, Broad nasal tip	OMIM:619736
Fanconi Anemia	Cataract, Short stature, Choanal atresia, Cryptorchidism, Tetralogy of Fallot, Weight loss, Aplas...	ORPHA:84
Linear Skin Defects With Multiple Congenital Anomalies 3	Sclerocornea, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Mi...	OMIM:300952
Farber Disease	Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma	ORPHA:333
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism, Short nose	OMIM:300143
Autosomal Dominant Omodysplasia	Cryptorchidism, Short nose, Rhizomelia, Depressed nasal bridge	ORPHA:93328
Oculocerebrorenal Syndrome Of Lowe	Cataract, Corneal opacity, Chorioretinal dysplasia, Abnormal pupil morphology, Buphthalmos, Lenti...	ORPHA:534
Charcot-Marie-Tooth Disease Type 4C	Anisocoria	ORPHA:99949
Developmental And Epileptic Encephalopathy 90	Atrial septal defect, Constipation	OMIM:301058
Tetrasomy 5P	Cyanosis, Anteverted nares, Postnatal growth retardation, Wide nasal bridge, Short nose, Failure ...	ORPHA:3309
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Depressed nasal bridge, Short stature, Microcornea, Severe postnatal growth retardation...	ORPHA:35173
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Bicuspid aortic valve, Ventricu...	OMIM:610759
Thanatophoric Dysplasia Type 2	Atrial septal defect, Depressed nasal bridge, Short stature	ORPHA:93274
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Short nose, Wide nasal bridge, Gastroesophageal reflux, Obesity	OMIM:620250
Pontocerebellar Hypoplasia, Type 10	Underdeveloped nasal alae, Cryptorchidism, Bulbous nose, Wide nasal bridge, Growth delay, Gastroe...	OMIM:615803
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Postnatal growth retardation...	OMIM:301040
Vitreoretinochoroidopathy	Pulverulent cataract, Developmental cataract, Microcornea, Microphthalmia, Abnormality of chorior...	OMIM:193220
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Allergic rhinitis, Elevated circulating alkaline phosphatase concentration, Constipat...	OMIM:618162
Down Syndrome	Cataract, Depressed nasal bridge, Prematurely aged appearance, Depressed nasal ridge, Obesity, Sh...	ORPHA:870
Cardiofaciocutaneous Syndrome	Anteverted nares, Failure to thrive in infancy, Depressed nasal bridge, Abnormal heart valve morp...	ORPHA:1340
Kabuki Syndrome 2	Short stature, Broad nasal tip, Postnatal growth retardation, Depressed nasal tip, Short columell...	OMIM:300867
Marshall-Smith Syndrome	Anteverted nares, Choanal atresia, Short nose, Failure to thrive, Bruising susceptibility	ORPHA:561
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Hepatomegaly, Methylmalonic acidemia, Abnormal circulating enzyme ...	ORPHA:17
Odontochondrodysplasia	Short nose, Depressed nasal bridge, Short stature	ORPHA:166272
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Abnormal repetitive mannerisms, Overfriendliness	OMIM:616579
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Cataract, Depressed nasal bridge, Decreased response to growth hormone stimulation test, Telangie...	OMIM:616007
Leigh Syndrome	Abnormal circulating enzyme concentration or activity, Cataract, Ventricular septal defect, Dysph...	ORPHA:506
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Intracranial hemorrhage, Abnormal mitral valve morphology, Raynaud phenome...	ORPHA:740
Mandibuloacral Dysplasia With Type B Lipodystrophy	Prominent superficial veins, Decreased adipose tissue around neck, Narrow nasal ridge, Progeroid ...	OMIM:608612
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose, Disproportionate short-limb short stature	OMIM:618618
Tangier Disease	Opacification of the corneal stroma	OMIM:205400
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Gastroesophageal reflux, Patent foramen ovale	OMIM:617182
Codas Syndrome	Cataract, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Short stature, Cry...	OMIM:600373
Ohdo Syndrome, X-Linked	Depressed nasal bridge, Prominent nose, Cryptorchidism, Bulbous nose, Wide nasal bridge, Constipa...	OMIM:300895
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Cataract, Anterior pituitary hypoplasia, Sclerocornea, Optic n...	OMIM:206900
Joubert Syndrome 3	Atrial septal defect, Anteverted nares, Wide nasal bridge	OMIM:608629
Keutel Syndrome	Wide nose, Ventricular septal defect, Depressed nasal bridge, Short stature, Underdeveloped nasal...	ORPHA:85202
Marfan Syndrome	Reduced subcutaneous adipose tissue, Cataract, Bicuspid aortic valve, Ectopia lentis, Microsphero...	OMIM:154700
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Cryptorchidism, Abdominal obesity, Ventricular septal defect	OMIM:301039
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cataract, Cryptorchidism, Atrial septal defect, Intrauterine growth retardation, Patent foramen o...	OMIM:620327
Noonan Syndrome 9	Short stature, Ventricular septal defect, Prominent corneal nerve fibers, Cryptorchidism, Pulmoni...	OMIM:616559
Cardiac-Valvular Ehlers-Danlos Syndrome	Abnormal heart valve morphology, Short stature, Poor wound healing, Bulbous nose, Myopic astigmat...	ORPHA:230851
Fanconi Anemia, Complementation Group F	Short stature, Decreased response to growth hormone stimulation test, Cryptorchidism, Atrial sept...	OMIM:603467
Xq21 Microdeletion Syndrome	Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Sensorineural hearing impairment, Op...	ORPHA:1435
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Bicuspid aortic valve, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Chron...	OMIM:619720
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Narrow nasal bridge, Atrial septal defect, Ventricular septal defect, Prominent nasal bridge, Lon...	OMIM:309520
Mogs-Cdg	Hepatomegaly, Wide nose, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, Chronic constipation...	ORPHA:79330
Femoral-Facial Syndrome	Cryptorchidism, Short nose, Short stature	ORPHA:1988
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Depressed nasal bridge, Supernumerary nipple, Bulbous nose, Wide nasal bridge, Microphthalmia	OMIM:620098
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Optic nerve hypoplasia, Secundum atrial septal defect, Sever...	OMIM:609069
Congenital Heart Defects, Multiple Types, 3	Atrial septal defect, Tetralogy of Fallot, Abnormal heart morphology	OMIM:614954
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalo...	OMIM:608978
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Wide nose, Ventricular septal defect, Prominent nasal bridge, Convex nasal ridge, Postnatal growt...	ORPHA:251028
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Depressed nasal bridge, Underdeveloped nasal alae, Long nose, Constipation, High nonceruloplasmin...	ORPHA:457351
Temtamy Preaxial Brachydactyly Syndrome	Short stature, Abnormally large globe, Abnormal lens morphology, Growth delay, Short nose	ORPHA:363417
Foxg1 Syndrome Due To 14Q12 Microdeletion	Abnormal repetitive mannerisms	ORPHA:261144
African Trypanosomiasis	Hepatomegaly, Pericarditis, Keratitis, Splenomegaly, Jaundice, Myocarditis, Diarrhea, Hepatosplen...	ORPHA:3385
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Fetal Hydantoin Syndrome	Short stature, Cryptorchidism, Depressed nasal ridge, Intrauterine growth retardation, Short nose	ORPHA:1912
Cutis Marmorata Telangiectatica Congenita	Leukocoria	ORPHA:1556
Seckel Syndrome 9	Ventricular septal defect, Small for gestational age, Short stature, Atrial septal defect, Intrau...	OMIM:616777
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Depressed nasal bridge, Cryptorchidism, Bulbous nose, Transposition of the great arteries, Patent...	OMIM:616789
Fryns Syndrome	Anteverted nares, Corneal opacity, Cryptorchidism, Wide nasal bridge, Abnormal cardiac septum mor...	ORPHA:2059
New-Onset Refractory Status Epilepticus	Abnormal head movements	ORPHA:363558
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Short nose, Wide nasal bridge	OMIM:218000
Occipital Horn Syndrome	Gastroparesis, Jaundice, Hepatitis, Cholestasis, Abnormality of the sense of smell, Gastroesophag...	ORPHA:198
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Prematurely aged appearance, Short stature, Progeroid facial appearance, Hyperlipidem...	ORPHA:90154
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Sclerocornea, Underdeveloped nasal alae, Cryptorchidism, Wide nasal bridge, Growth dela...	OMIM:614230
Bickerstaff Brainstem Encephalitis	Anisocoria, Mydriasis	ORPHA:79138
Alkuraya-Kucinskas Syndrome	Cataract, Depressed nasal bridge, Anteverted nares, Pericardial effusion, Short nose	OMIM:617822
Idiopathic Hypereosinophilic Syndrome	Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C...	ORPHA:3260
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Ventricular septal defect, Short stature, Bilateral cryptorchidism, Cryptorchidism, Wide nasal br...	OMIM:300998
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Hypersplenism, Pulmonic stenosis, Right ventricular hypertr...	OMIM:616028
Multisystemic Smooth Muscle Dysfunction Syndrome	Mydriasis	OMIM:613834
Mucopolysaccharidosis Type 4	Corneal opacity	ORPHA:582
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect, Underdeveloped na...	ORPHA:2516
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos, Vomiting	ORPHA:77299
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Anteverted nares, Cutis marmorata, Short stature, Wide nasal bridge, Gastroesophageal reflux, Sho...	OMIM:614701
16P11.2P12.2 Microdeletion Syndrome	Anteverted nares, Short stature, Long nose, Bulbous nose, Absent nasal bridge, Gastroesophageal r...	ORPHA:261211
Oculodentodigital Dysplasia	Narrow nasal bridge, Cataract, Anteverted nares, Ventricular septal defect, Abnormality of the no...	ORPHA:2710
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Dilated cardiomyo...	OMIM:610505
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Fetal intraventricular hemorrhage	OMIM:618480
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Schimke Immuno-Osseous Dysplasia	Corneal opacity	ORPHA:1830
Waardenburg Syndrome Type 3	Narrow nasal bridge, Atrial septal defect, Acrocyanosis	ORPHA:896
Brain Malformations With Or Without Urinary Tract Defects	Short nose, Failure to thrive, Anteverted nares, Cutis marmorata	OMIM:613735
Sandifer Syndrome	Abnormal head movements	ORPHA:71272
Ventricular Septal Defect 3	Atrial septal defect, Ventricular septal defect	OMIM:614432
Pelger-Huet Anomaly	Mild short stature, Ventricular septal defect, Failure to thrive, Depressed nasal bridge	OMIM:169400
Fontaine Progeroid Syndrome	Bicuspid aortic valve, Gastroesophageal reflux, Atrial septal defect, Neonatal death, Depressed n...	OMIM:612289
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Depressed nasal bridge, Anteverted nares, Large for gestational age, Restrictive cardiomyopathy, ...	OMIM:615398
Ruvalcaba Syndrome	Cryptorchidism, Delayed puberty, Intrauterine growth retardation, Short nose, Convex nasal ridge	ORPHA:3121
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Ventricular septal defect, Underdeveloped nasal alae, Cryptorchidism, Wide...	ORPHA:453499
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Deeah Syndrome	Hepatomegaly, Short stature, Decreased response to growth hormone stimulation test, Anterior pitu...	OMIM:619004
Marshall Syndrome	Cataract, Depressed nasal bridge, Anteverted nares, Short stature, Ectopia lentis, Wide nasal bri...	ORPHA:560
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Small for gestational age, Ventricular septal defect, Short stature, Cryptorchidism, Coronary art...	OMIM:620024
Meier-Gorlin Syndrome 6	Severe short stature, Small for gestational age, Decreased response to growth hormone stimulation...	OMIM:616835
Cutis Laxa, Autosomal Recessive, Type Iia	Anteverted nares, Excessive wrinkled skin, Intrauterine growth retardation, Short nose, Failure t...	OMIM:219200
Noonan Syndrome 10	Ventricular septal defect, Short stature, Prominent corneal nerve fibers, Cryptorchidism, Mitral ...	OMIM:616564
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Cataract, Anteverted nares, Postnatal growth retardation, Intrauterine growth retardation, Short ...	OMIM:612394
Autoinflammatory Disease, Systemic, X-Linked	Cerebral hemorrhage	OMIM:301081
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Cryptorchidism, Complete atrioventricular canal defect, ...	OMIM:264480
Magel2-Related Prader-Willi-Like Syndrome	Narrow nasal bridge, Short stature, Cryptorchidism, Xerostomia, Increased body weight, Chronic co...	ORPHA:398069
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Pallor, Eosinophilia	ORPHA:331206
Sheehan Syndrome	Orthostatic hypotension, Palpitations, Bradycardia, Pallor, Dry skin	ORPHA:91355
Hurler Syndrome	Corneal opacity, Opacification of the corneal stroma	OMIM:607014
Cystic Fibrosis	Hepatomegaly, Nasal polyposis, Meconium ileus, Diarrhea, Ileus, Cor pulmonale, Biliary cirrhosis,...	OMIM:219700
Tatton-Brown-Rahman Syndrome	Proportionate short stature, Cryptorchidism, Obesity, Short columella, Atrial septal defect	ORPHA:404443
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Secundum atrial septal defect, Anteverted nares, Prominent nasal bridge	OMIM:608688
Imerslund-Gräsbeck Syndrome	Tachycardia, Pallor	ORPHA:35858
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Subdural hemorrhage, Cerebral hemorrhage	OMIM:620278
Bardet-Biedl Syndrome 1	Cataract, Biliary tract abnormality, Abnormality of the ovary, Obesity, Truncal obesity, Abdomina...	OMIM:209900
Superficial Siderosis	Anisocoria	ORPHA:247245
Senior-Loken Syndrome 8	Pallor	OMIM:616307
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Abdominal situs inversus, Tr...	OMIM:614779
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Anisocoria	OMIM:618653
Sifrim-Hitz-Weiss Syndrome	Ventricular septal defect, Short stature, Cryptorchidism, Astigmatism, Atrial septal defect, Tetr...	OMIM:617159
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Pineal cyst, Gastroesophageal reflux, Atri...	OMIM:615873
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Microphthalmia With Linear Skin Defects Syndrome	Posterior embryotoxon, Anophthalmia, Corneal opacity, Wide nose, Sclerocornea, Chorioretinal dysp...	ORPHA:2556
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect, Depressed nasal bridge, Pancreatic fibrosis, Short stature, Failure to...	OMIM:615503
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Depressed nasal bridge, Anteverted nares, Large for gestational age, Hydrocele testis, Gastroesop...	OMIM:614080
Oculoectodermal Syndrome	Atrial septal defect, Depressed nasal bridge, Supernumerary nipple, Chorioretinal atrophy, Wide n...	OMIM:600268
Malan Syndrome	Short nose, Astigmatism, Cutis marmorata	OMIM:614753
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Corneal opacity, Prominent nasal bridge, Ventricular septal defect, Underdeveloped nasal alae, Bu...	OMIM:608670
3Mc Syndrome 3	Corneal opacity	OMIM:248340
Holoprosencephaly 2	Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma	OMIM:157170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Peters anom...	OMIM:614643
Loeys-Dietz Syndrome 5	Reduced subcutaneous adipose tissue, Failure to thrive in infancy, Prominent nasal bridge, Ventri...	OMIM:615582
Kury-Isidor Syndrome	Growth delay, Ventricular septal defect, Astigmatism, Anteverted nares	OMIM:619762
Pituitary Apoplexy	Hypertension, Pallor, Hypotension	ORPHA:95613
Raine Syndrome	Depressed nasal bridge, Choanal atresia, Short stature, Elevated circulating alkaline phosphatase...	OMIM:259775
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620073
Tetrasomy 18P	Short nose, Achalasia	ORPHA:3307
Peters Plus Syndrome	Cataract, Corneal opacity, Microcornea, Peters anomaly, Iris coloboma, Anterior chamber synechiae	ORPHA:709
20Q11.2 Microduplication Syndrome	Depressed nasal bridge, Anteverted nares, Cryptorchidism, Wide nasal bridge, Growth delay, Severe...	ORPHA:363659
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Wide nose, Anteverted nares, Decreased response to growth hormone stimulation test, Supernumerary...	OMIM:213980
Martinez-Frias Syndrome	Hypoplasia of the gallbladder, Extrahepatic biliary duct atresia, Intrauterine growth retardation...	OMIM:601346
Deafness, X-Linked 7	Wide nasal bridge, Unilateral microphthalmos	OMIM:301018
Mucolipidosis Iii Alpha/Beta	Opacification of the corneal stroma, Hyperopic astigmatism	OMIM:252600
Hellp Syndrome	Prolonged prothrombin time, Cerebral hemorrhage, Internal hemorrhage, Hypotension	ORPHA:244242
Phace Association	Ventricular septal defect, Optic nerve hypoplasia, Developmental cataract, Microphthalmia, Lingua...	OMIM:606519
Teebi-Shaltout Syndrome	Ventricular septal defect, Short stature, Underdeveloped nasal alae, Broad nasal tip, Wide nasal ...	OMIM:272950
Rauch-Steindl Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:619695
Sweeney-Cox Syndrome	Choanal atresia, Broad nasal tip, Asplenia, Bilateral cryptorchidism, Underdeveloped nasal alae, ...	OMIM:617746
Mgat2-Cdg	Ventricular septal defect, Reduced level of N-acetylglucosaminyltransferase II, Gastroparesis, Ab...	ORPHA:79329
Monosomy 18Q	Depressed nasal bridge, Absence of the pulmonary valve, Short stature, Prominent nose, Bilateral ...	ORPHA:1600
Metachromatic Leukodystrophy	Abnormal circulating enzyme concentration or activity, Bowel incontinence, Abnormal gallbladder m...	ORPHA:512
Glutaryl-Coa Dehydrogenase Deficiency	Subdural hemorrhage, Retinal hemorrhage	ORPHA:25
Cardiac-Urogenital Syndrome	Accessory spleen, Cor triatrium sinister, Unilateral cryptorchidism, Ventricular septal defect, C...	OMIM:618280
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Mitral valve calcification, Corneal opacity, Cachexia, Poor wou...	ORPHA:2072
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short nose, Depressed nasal bridge, Short stature	ORPHA:2835
Velocardiofacial Syndrome	Hypoparathyroidism, Ventricular septal defect, Short stature, Underdeveloped nasal alae, Cryptorc...	OMIM:192430
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Wide nose, Ventricular septal defect, Optic nerve hypoplasia, Short stature, Underdeveloped nasal...	OMIM:617506
Congenital Disorder Of Glycosylation, Type Iim	Wide nasal bridge, Gastroesophageal reflux, Atrial septal defect, Intrauterine growth retardation...	OMIM:300896
Fanconi Anemia, Complementation Group C	Ventricular septal defect, Small for gestational age, Short stature, Cryptorchidism, Microphthalm...	OMIM:227645
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Anteverted nares, Depressed nasal bridge, Large for gestational age, Microvesicular...	OMIM:300868
Microlissencephaly-Micromelia Syndrome	Hypoparathyroidism, Short nose, Failure to thrive	ORPHA:50810
Incontinentia Pigmenti	Cataract, Abnormal chorioretinal morphology, Corneal opacity, Keratitis, Uveitis	ORPHA:464
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Short stature, Asplenia, Partial anomalous pulmonary ven...	OMIM:619657
Rett Syndrome, Congenital Variant	Tongue thrusting, Abnormal repetitive mannerisms, Bruxism	OMIM:613454
Myhre Syndrome	Cataract, Small for gestational age, Prominent nasal bridge, Ventricular septal defect, Short sta...	OMIM:139210
Braddock-Carey Syndrome 1	Aortic valve prolapse, Ventricular septal defect, Anteverted nares, Wide nasal bridge, Growth delay	OMIM:619980
Baller-Gerold Syndrome	Narrow nasal bridge, Failure to thrive in infancy, Prominent nasal bridge, Short stature, Growth ...	ORPHA:1225
Rubinstein-Taybi Syndrome 1	Prominent nose, Bilateral cryptorchidism, Hepatic hemangioma, Gastroesophageal reflux, Atrial sep...	OMIM:180849
Marshall-Smith Syndrome	Anteverted nares, Optic nerve hypoplasia, Choanal atresia, Depressed nasal bridge, Bilateral cryp...	OMIM:602535
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Atrial septal defect, Patent foramen ovale, Depressed nasal bridge	OMIM:620075
Monosomy 9Q22.3	Cataract, Ovarian fibroma, Large for gestational age, Cardiac fibroma, Microphthalmia, Short nose	ORPHA:77301
Williams Syndrome	Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Cardiomegaly, Gastroes...	ORPHA:904
Schinzel-Giedion Midface Retraction Syndrome	Atrial septal defect, Abnormal nasopharynx morphology, Anteverted nares, Depressed nasal bridge, ...	OMIM:269150
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Ventricular septal defect, Abnormally large globe	OMIM:603387
Non-Functioning Pituitary Adenoma	Pallor, Hypotension	ORPHA:91349
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Depressed nasal bridge, Short stature, Cardiomegaly, Abnormally large glob...	OMIM:245600
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Nasal polyposis, Bile duct polyp, Biliary tract abnormality, Bloody dia...	OMIM:175200
Holoprosencephaly 7	Iris coloboma	OMIM:610828
Geleophysic Dysplasia 1	Hepatomegaly, Mitral stenosis, Anteverted nares, Tricuspid stenosis, Short stature, Aortic valve ...	OMIM:231050
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Depressed nasal bridge, Anteverted nares, Long nose, Bulbous nose, Disproportionate...	ORPHA:508533
Robinow Syndrome, Autosomal Dominant 3	Depressed nasal bridge, Anteverted nares, Hypoplastic right heart, Ventricular septal defect, Sho...	OMIM:616894
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland	OMIM:614402
Kleefstra Syndrome 1	Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior	OMIM:610253
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys...	OMIM:613795
Chromosome 9P Deletion Syndrome	Depressed nasal bridge, Anteverted nares, Choanal atresia, Ventricular septal defect, Wide nasal ...	OMIM:158170
Myopathy, Mitochondrial, And Ataxia	Pallor	OMIM:617675
Otopalatodigital Syndrome Type 2	Cataract, Depressed nasal bridge, Abnormal heart valve morphology, Developmental glaucoma, Abnorm...	ORPHA:90652
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Long nose, Muscular ventricular septal defect, Abnormal heart morphology, Perimembranous ventricu...	ORPHA:363444
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Hypokalemia, Left ventricular hypertrophy, ...	OMIM:615474
Aymé-Gripp Syndrome	Pericarditis, Cataract, Depressed nasal bridge, Short stature, Pericardial effusion, Cryptorchidi...	ORPHA:1272
21Q22.11Q22.12 Microdeletion Syndrome	Anteverted nares, Failure to thrive in infancy, Short stature, Postnatal growth retardation, Bulb...	ORPHA:261323
Alternating Hemiplegia Of Childhood	Cardiac conduction abnormality, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia	ORPHA:2131
Hydrolethalus	Microphthalmia, Cryptorchidism, Anophthalmia, Abnormality of the sense of smell	ORPHA:2189
Orotic Aciduria	Atrial septal defect, Reduced orotidine 5-prime phosphate decarboxylase level, Failure to thrive,...	OMIM:258900
Hallermann-Streiff Syndrome	Choanal atresia, Proportionate short stature, Underdeveloped nasal alae, Cryptorchidism, Uveitis,...	ORPHA:2108
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Intracranial hemorrhage, Hypertension	ORPHA:90795
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atrial septal defect, Wide nose, Pulmonic stenosis, Recurrent sinusitis	OMIM:618282
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Abnormal anterior eye segment morphology	ORPHA:209956
Niemann-Pick Disease Type C	Hepatomegaly, Low cholesterol esterification rate, Splenomegaly, Jaundice, Hepatosplenomegaly, Ab...	ORPHA:646
Adenohypophysitis	Orthostatic hypotension, Pallor	ORPHA:95512
Paternal Uniparental Disomy Of Chromosome 5	Secundum atrial septal defect, Rhizomelic arm shortening, Abnormally large globe	ORPHA:96190
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Abnormal mitral valve morphology, Short stature, Prominent nose, Wide nasal bridge, Atrial septal...	ORPHA:1292
Fanconi Anemia, Complementation Group E	Small for gestational age, Short stature, Cryptorchidism, Abnormal heart morphology, Microphthalm...	OMIM:600901
Papillorenal Syndrome	Cataract, Short stature, Lens luxation, Elevated circulating creatinine concentration, Chorioreti...	OMIM:120330
Atrial Septal Defect 6	Atrial septal defect	OMIM:613087
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect, Underdeveloped nasal alae	OMIM:601355
Proximal 16P11.2 Microdeletion Syndrome	Dextrocardia, Obesity, Abnormal heart morphology, Abnormal aortic valve morphology, Gastroesophag...	ORPHA:261197
Juvenile Polyposis Syndrome	Neoplasm of the pancreas, Hepatic arteriovenous malformation, Spontaneous, recurrent epistaxis, G...	ORPHA:2929
Robinow Syndrome, Autosomal Recessive 2	Bicuspid aortic valve, Anteverted nares, Short stature, Broad nasal tip, Wide nasal bridge, Short...	OMIM:618529
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Cataract, Anteverted nares, Sutural cataract, Prominent nasal bridge, Depressed nasal bridge, Pro...	OMIM:612474
Yuan-Harel-Lupski Syndrome	Wide nose, Ventricular septal defect, Bicuspid aortic valve, Chronic constipation, Double outlet ...	OMIM:616652
Incontinentia Pigmenti	Eosinophilia, Pallor, Erythema, Retinal hemorrhage	OMIM:308300
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect	ORPHA:94066
De Barsy Syndrome	Cataract, Corneal opacity, Ventricular septal defect, Progeroid facial appearance, Short stature,...	ORPHA:2962
Von Hippel-Lindau Disease	Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens...	ORPHA:892
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Distal Triplication 15Q	Corneal dystrophy, Large for gestational age, Abnormal heart morphology, Hydrocele testis, Atrial...	ORPHA:314588
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Depressed nasal bridge, Anteverted nares, Cryptorchidism, Cardiomyopathy, Abnormal cardiac septum...	OMIM:217980
Williams-Beuren Syndrome	Bicuspid aortic valve, Premature graying of hair, Gastroesophageal reflux, Atrial septal defect, ...	OMIM:194050
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Prominent superficial veins, Cor triatriatum, Secundum atrial septal defect, Spleno...	OMIM:612541
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Postnatal growth retardation, Cryptorchidism, Atrial septal defect, Co...	OMIM:300963
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Intestinal obstruction, Ventricular septal defect, Enterocolitis, Bloody diarrhea, Hematochezia, ...	OMIM:243150
Trisomy 1Q	Wide nose, Anophthalmia, Depressed nasal bridge, Ventricular septal defect, Cryptorchidism	ORPHA:261344
Atelis Syndrome 2	Prominent nose, Bulbous nose, Developmental cataract, Supravalvar pulmonary stenosis, Gastroesoph...	OMIM:620185
Momo Syndrome	Cutis marmorata, Short stature, Large for gestational age, Bilateral microphthalmos, Obesity, Cho...	ORPHA:2563
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Erythema, Hypoalbuminemia, Fragile skin, Prominent nose	OMIM:614748
Bdv Syndrome	Atrial septal defect, Cryptorchidism, Obesity, Delayed puberty	OMIM:619326
Microcephaly-Micromelia Syndrome	Wide nose, Neonatal death, Microphthalmia, Convex nasal ridge, Intrauterine growth retardation	OMIM:251230
Mosaic Trisomy 8	Corneal opacity	ORPHA:96061
Isolated Right Ventricular Hypoplasia	Cyanosis, Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ...	ORPHA:439
Robinow Syndrome	Anteverted nares, Small for gestational age, Depressed nasal bridge, Broad nasal tip, Ventricular...	ORPHA:97360
Chromosome 6Q24-Q25 Deletion Syndrome	Anteverted nares, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular dilatation...	OMIM:612863
Dend Syndrome	Short nose, Anteverted nares, Elevated hemoglobin A1c, Vomiting	ORPHA:79134
Panhypophysitis	Orthostatic hypotension, Pallor	ORPHA:95513
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect, Supernumerary nipple, Wide nasal bridge, Ectodermal dysplasia, Conjunc...	OMIM:106260
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Ventricular septal defect, Short stature, Growth delay, A...	ORPHA:209905
Fanconi Anemia, Complementation Group A	Small for gestational age, Short stature, Cryptorchidism, Abnormal heart morphology, Microphthalm...	OMIM:227650
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Corneal opacity	OMIM:259600
Genitopatellar Syndrome	Wide nose, Short stature, Prominent nasal bridge, Prominent nose, Cryptorchidism, Gastroesophagea...	ORPHA:85201
Meier-Gorlin Syndrome 7	Ventricular septal defect, Choanal atresia, Short stature, Cryptorchidism, Complete atrioventricu...	OMIM:617063
Koolen-De Vries Syndrome Due To A Point Mutation	Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pineal cyst, Ectode...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pineal cyst, Ectode...	ORPHA:363958
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Short nose, Decreased liver function	OMIM:614863
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Anteverted nares, Elevated circulating alpha-fetoprotein concentration, Hydrocele testis, Gastroe...	ORPHA:280633
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Cataract, Corneal opacity, Ventricular septal defect, Underdeveloped nasal alae...	OMIM:268300
Structural Heart Defects And Renal Anomalies Syndrome	Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return, Elevated circulat...	OMIM:617478
Mosaic Variegated Aneuploidy Syndrome	Wide nose, Cataract, Corneal opacity, Short stature, Depressed nasal ridge, Growth delay, Subvalv...	ORPHA:1052
Cutis Laxa, Autosomal Recessive, Type Iid	Reduced subcutaneous adipose tissue, Cataract, Hypoplastic right heart, Bilateral cryptorchidism,...	OMIM:617403
Chromosome 15Q11.2 Deletion Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors	OMIM:615656
Nicolaides-Baraitser Syndrome	Narrow nasal bridge, Anteverted nares, Short stature, Cryptorchidism, Bulbous nose, Growth delay,...	OMIM:601358
Elliptocytosis 2	Neonatal hyperbilirubinemia	OMIM:130600
Familial Exudative Vitreoretinopathy	Microphthalmia, Macular telangiectasia, Cataract, Chorioretinal atrophy	ORPHA:891
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Short nose	OMIM:200995
Mucopolysaccharidosis, Type Vii	Corneal opacity	OMIM:253220
Cornelia De Lange Syndrome	Cataract, Anteverted nares, Choanal atresia, Depressed nasal bridge, Ventricular septal defect, C...	ORPHA:199
Skin Creases, Congenital Symmetric Circumferential, 1	Microcornea, Microphthalmia, Depressed nasal bridge, Hypoplastic nipples	OMIM:156610
Autosomal Dominant Kenny-Caffey Syndrome	Short stature, Postnatal growth retardation, Bilateral microphthalmos, Developmental cataract, Gr...	ORPHA:93325
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Atrial septal defect, Bruising susceptibility, Short stature, Poor wound healing	OMIM:619115
Cerebral Creatine Deficiency Syndrome 1	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:300352
Arterial Tortuosity Syndrome	Keratoconus, Prematurely aged appearance, Telangiectasia of the skin, Myocarditis, Dilated cardio...	ORPHA:3342
19P13.13 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Optic nerve hypoplasia, Diarrhea, Vomiting, Short nose	ORPHA:357001
Multiple Benign Circumferential Skin Creases On Limbs	Microcornea, Cryptorchidism, Microphthalmia, Short stature	ORPHA:2505
Peho Syndrome	Short nose	OMIM:260565
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Cutis marmorata, Short stature, Broad nasal tip, Cryptorchidism, Obesi...	ORPHA:96121
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Ventricular septal defect, Optic disc hypoplasia, Wide nasal bridge, Depressed ...	OMIM:619306
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Wide nose, Depressed nasal bridge, Small for gestational age, Bicuspid aortic valve, Broad nasal ...	OMIM:300707
Char Syndrome	Ventricular septal defect, Depressed nasal bridge, Depressed nasal ridge, Supernumerary nipple	ORPHA:46627
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, ...	OMIM:278730
Hydranencephaly	Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Antenatal intr...	ORPHA:2177
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Small for gestational age, Large for gestational age, Postnatal growth...	ORPHA:254534
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect, Depressed nasal bridge, Short stature, Dysphagia	OMIM:618325
Cardiospondylocarpofacial Syndrome	Posteriorly rotated ears, Congenital sensorineural hearing impairment, Fusion of middle ear ossic...	OMIM:157800
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Severe short stature, Ventricular septal defect, Prominent nose, Long nose, C...	ORPHA:3047
Spinocerebellar Ataxia-Dysmorphism Syndrome	Short nose, Anteverted nares, Short stature	ORPHA:1185
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ventricular septal defect, Short stature, Long nose, Postnatal growth retardation, Bulbous nose, ...	OMIM:620113
Genitopalatocardiac Syndrome	Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries	OMIM:231060
Thanatophoric Dysplasia Type 1	Atrial septal defect, Excessive wrinkled skin, Depressed nasal bridge, Lethal short-limbed short ...	ORPHA:1860
Distal Deletion 12Q	Unilateral cryptorchidism, Failure to thrive in infancy, Anteverted nares, Short stature, Pituita...	ORPHA:96149
Cenani-Lenz Syndrome	Short nose, Cataract, Convex nasal ridge	ORPHA:3258
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Prominent nose, Facial erythema, Hypocalce...	OMIM:619503
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Cataract, Depressed nasal bridge, Cryptorchidism, Growth delay, Megalocornea, Breast hypoplasia, ...	OMIM:601353
Pontocerebellar Hypoplasia, Type 17	Ventricular septal defect, Secundum atrial septal defect, Gastroesophageal reflux, Dysphagia, Int...	OMIM:619909
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Hematochezia, Anemic pallor	ORPHA:329971
Prolactinoma	Pallor, Hypotension	ORPHA:2965
Hypomandibular Faciocranial Dysostosis	Atrial septal defect, Anteverted nares, Choanal stenosis, Short nose	ORPHA:1790
Digeorge Syndrome	Parathyroid agenesis, Ventricular septal defect, Sclerocornea, Short stature, Splenomegaly, Obesi...	OMIM:188400
2Q37 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors	ORPHA:1001
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Atrial septal defect, Aortic valve stenosis, Depressed nasal bridge, Short stature	ORPHA:459061
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Hepatomegaly, Depressed nasal bridge, Elevated circulating aspartate aminotransferase concentrati...	OMIM:280000
Congenital Disorder Of Glycosylation, Type Iia	Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Aggressive behavior	OMIM:212066
Focal Dermal Hypoplasia	Aniridia, Iris coloboma, Chorioretinal coloboma, Ectopia lentis	OMIM:305600
Acrocardiofacial Syndrome	Mitral stenosis, Ventricular septal defect, Cryptorchidism, Wide nasal bridge, Atrial septal defe...	ORPHA:2008
Stankiewicz-Isidor Syndrome	Ventricular septal defect, Prominent nose, Cryptorchidism, Pineal cyst, Truncus arteriosus	OMIM:617516
Dyggve-Melchior-Clausen Disease	Corneal opacity	ORPHA:239
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Narrow nasal bridge, Slender build, Left ventricular noncompaction cardiomyopathy, Ventricular se...	OMIM:300967
Neu-Laxova Syndrome 1	Wide nose, Cataract, Ventricular septal defect, Cryptorchidism, Depressed nasal ridge, Yellow sub...	OMIM:256520
Contractural Arachnodactyly, Congenital	Ventricular septal defect, Bicuspid aortic valve, Ectopia lentis, Mitral valve prolapse, Atrial s...	OMIM:121050
X-Linked Lissencephaly With Abnormal Genitalia	Cryptorchidism, Ventricular septal defect, Exocrine pancreatic insufficiency	ORPHA:452
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Depressed nasal ridge, Optic nerve hypoplasia, Choanal atresia	OMIM:607597
Bartsocas-Papas Syndrome 1	Underdeveloped nasal alae, Bilateral cryptorchidism, Popliteal pterygium, Opacification of the co...	OMIM:263650
Coffin-Siris Syndrome 4	Narrow nasal bridge, Wide nose, Depressed nasal bridge, Anteverted nares, Ventricular septal defe...	OMIM:614609
Zaki Syndrome	Wide nose, Anteverted nares, Short stature, Wide nasal bridge, Patent foramen ovale	OMIM:619648
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Underdeveloped nasal alae, Prominent nose, Disproportionate short stature, Wide nasal bridge, Tru...	ORPHA:2637
16Q24.3 Microdeletion Syndrome	Anteverted nares, Optic nerve hypoplasia, Ventricular septal defect, Cryptorchidism, Dilated card...	ORPHA:261250
Schneckenbecken Dysplasia	Short nose, Stillbirth, Disproportionate short-limb short stature	OMIM:269250
Blepharophimosis, Ptosis, And Epicanthus Inversus	Depressed nasal bridge, Increased circulating gonadotropin level, Wide nasal bridge, Microcornea,...	OMIM:110100
Cerebellar-Facial-Dental Syndrome	Infancy onset short-trunk short stature, Cataract, Anteverted nares, Ventricular septal defect, S...	ORPHA:444072
Holt-Oram Syndrome	Ventricular septal defect, Anomalous pulmonary venous return, Hypoplastic left heart, Atrial sept...	ORPHA:392
Mucoepithelial Dysplasia, Hereditary	Cataract, Corneal neovascularization, Opacification of the corneal stroma, Keratoconjunctivitis	OMIM:158310
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Abnormal repetitive mannerisms, Inappropriate laughter	OMIM:615802
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Pallor	ORPHA:300298
Toluene Embryopathy	Cryptorchidism, Short nose, Short stature	ORPHA:1920
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Short columella, Ventricular septal defect, Short stature, Polycystic ovaries	ORPHA:1770
Fanconi Anemia, Complementation Group D2	Small for gestational age, Short stature, Cryptorchidism, Abnormal heart morphology, Microphthalm...	OMIM:227646
Mucopolysaccharidosis Type 1	Corneal opacity	ORPHA:579
Fibrochondrogenesis 2	Short nose, Anteverted nares	OMIM:614524
Opsismodysplasia	Rhizomelia, Depressed nasal bridge, Anteverted nares, Disproportionate short-limb short stature, ...	OMIM:258480
Dyrk1A-Related Intellectual Disability Syndrome	Small for gestational age, Anterior pituitary hypoplasia, Corneal opacity, Narrow nasal tip, Prom...	ORPHA:464306
Wiedemann-Steiner Syndrome	Short stature, Decreased response to growth hormone stimulation test, Rhizomelia, Postnatal growt...	ORPHA:319182
Joubert Syndrome 2	Microphthalmia, Failure to thrive, Depressed nasal bridge, Chorioretinal coloboma	OMIM:608091
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Short nose	OMIM:618087
Omodysplasia 1	Depressed nasal bridge, Ventricular septal defect, Rhizomelia, Cryptorchidism, Wide nasal bridge,...	OMIM:258315
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Narrow nasal bridge, Left ventricular hypertrophy, Anterior pituitary hypoplasia, Supernumerary n...	ORPHA:466791
Renpenning Syndrome 1	Cataract, Ventricular septal defect, Short stature, Situs inversus totalis, Bulbous nose, Wide na...	OMIM:309500
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Atrial septal defect, Anteverted nares, Ventricular septal defect, Supernumerary ni...	ORPHA:373
Xeroderma Pigmentosum, Complementation Group B	Cataract, Short stature, Progeroid facial appearance, Microphthalmia, Cutaneous photosensitivity	OMIM:610651
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Depressed nasal bridge, Anteverted nares, Short nose, Abnormal heart morphology	ORPHA:314655
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Wide nose, Anophthalmia, Anteverted nares, Cataract, Chorioretinal dysplasia, Severe short statur...	ORPHA:2526
Ciliary Dyskinesia, Primary, 30	Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Nasal congestion	OMIM:616037
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Mydriasis	OMIM:619351
Phelan-Mcdermid Syndrome	Tongue thrusting, Abnormal repetitive mannerisms, Aggressive behavior, Bruxism	OMIM:606232
Galloway-Mowat Syndrome 7	Hypercholesterolemia, Dilated cardiomyopathy, Ventricular septal defect, Short stature	OMIM:618348
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Small for gestational age, Corneal opacity, Prominent nasal bridge, Ventricular septal defect, Cr...	ORPHA:464311
Neurocardiofaciodigital Syndrome	Cataract, Small for gestational age, Short stature, Sclerocornea, Tetralogy of Fallot, Double inl...	OMIM:619869
Marshall Syndrome	Cataract, Depressed nasal bridge, Anteverted nares, Short stature, Lens luxation, Short nose	OMIM:154780
Diamond-Blackfan Anemia	Small for gestational age, Depressed nasal bridge, Ventricular septal defect, Short stature, Deve...	ORPHA:124
Craniofacial Dyssynostosis With Short Stature	Cryptorchidism, Ventricular septal defect, Short stature	OMIM:218350
Aortic Valve Disease 3	Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve	OMIM:618496
Developmental And Epileptic Encephalopathy 18	Atrial septal defect	OMIM:615476
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Anteverted nares, Depressed nasal bridge, Short stature, Broad nasal tip, Pseudohypoparathyroidis...	OMIM:617157
Aregenerative Anemia	Pallor	ORPHA:101096
Heterotaxy, Visceral, 12, Autosomal	Abdominal situs ambiguus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common...	OMIM:619702
Moebius Syndrome	Corneal opacity	ORPHA:570
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Ventricular septal defect, Short stature, Underdeveloped nasal alae, Cryptorchidism, Intrauterine...	ORPHA:166035
Eisenmenger Syndrome	Hepatomegaly, Cyanosis, Ventricular septal defect, Elevated circulating C-reactive protein concen...	ORPHA:97214
Neurodevelopmental Disorder With Spasticity And Poor Growth	Anteverted nares, Short stature, Prominent nose, Growth delay, Chronic constipation, Vomiting, Ga...	OMIM:618076
Medulloblastoma	Cerebellar hemorrhage	ORPHA:616
Arachnoid Cyst	Mydriasis	ORPHA:2356
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Cataract, Anteverted nares, Decreased response to growth hormone stimulation test, Ventricular se...	ORPHA:444077
Spondyloocular Syndrome	Cataract, Unilateral cryptorchidism, Short stature, Posterior subcapsular cataract, Mitral valve ...	OMIM:605822
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Ventricular septal defect, Short stature, Large for gestational age, Cryptorchidism, Astigmatism,...	OMIM:607721
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Ventricular septal defect, Splenomegaly, Periportal fibrosis, Hypoplastic nipples, ...	OMIM:269860
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Severe postnatal growth retardation, Short nose	OMIM:266810
Noonan Syndrome 2	Mitral stenosis, Ventricular septal defect, Short stature, Cryptorchidism, Cardiomyopathy, Hypert...	OMIM:605275
Shashi-Pena Syndrome	Atrial septal defect, Intrauterine growth retardation, Broad nasal tip	OMIM:617190
Aminopterin/Methotrexate Embryofetopathy	Ventricular septal defect, Short stature, Situs inversus totalis, Wide nasal bridge, Intrauterine...	ORPHA:1908
Hurler Syndrome	Corneal opacity	ORPHA:93473
Tbck-Related Intellectual Disability Syndrome	Corneal opacity	ORPHA:488632
Developmental And Epileptic Encephalopathy 2	Abnormal repetitive mannerisms	OMIM:300672
Autosomal Recessive Robinow Syndrome	Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Abnormal pulmonary valve mor...	ORPHA:1507
Neonatal Marfan Syndrome	Iridodonesis, Small for gestational age, Ectopia lentis, Abnormal cardiac ventricle morphology, W...	ORPHA:284979
Witteveen-Kolk Syndrome	Anisocoria, Cataract, Iris coloboma	OMIM:613406
Cooper-Jabs Syndrome	Ventricular septal defect, Anteverted nares, Short stature	ORPHA:1488
Mucolipidosis Type Ii	Depressed nasal bridge, Abnormal mitral valve morphology, Short stature, Postnatal growth retarda...	ORPHA:576
Au-Kline Syndrome	Wide nasal ridge, Supernumerary nipple, Prominent nasal bridge, Underdeveloped nasal alae, Crypto...	OMIM:616580
Yunis-Varon Syndrome	Narrow nasal base, Atrial septal defect, Cataract, Anteverted nares, Ventricular septal defect, S...	ORPHA:3472
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe...	OMIM:619472
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, P...	ORPHA:91347
Cutis Laxa, Autosomal Recessive, Type Iic	Reduced subcutaneous adipose tissue, Prominent superficial veins, Anteverted nares, Short stature...	OMIM:617402
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Mucopolysaccharidosis Type 6	Opacification of the corneal stroma	ORPHA:583
Hydrolethalus Syndrome 1	Accessory spleen, Ventricular septal defect, Complete atrioventricular canal defect, Stillbirth, ...	OMIM:236680
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Tetralogy of Fallot, Conjunctivitis, Recurrent corneal erosions, Micro...	OMIM:153400
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Cardiac Valvular Dysplasia 1	Cyanosis, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmon...	OMIM:212093
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Gastrointestinal inflammation, Inflammation of the large intestine, Hepati...	ORPHA:99413
Tarp Syndrome	Cyanosis, Anteverted nares, Cryptorchidism, Wide nasal bridge, Tetralogy of Fallot, Atrial septal...	ORPHA:2886
Mosaic Monosomy X	Bicuspid aortic valve, Gastrointestinal inflammation, Inflammation of the large intestine, Hepati...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Gastrointestinal inflammation, Inflammation of the large intestine, Hepati...	ORPHA:99226
Turner Syndrome	Bicuspid aortic valve, Gastrointestinal inflammation, Inflammation of the large intestine, Hepati...	ORPHA:881
Hamamy Syndrome	Hypoparathyroidism, Anteverted nares, Cryptorchidism, Complete atrioventricular canal defect, Wid...	OMIM:611174
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Cryptorchidism, Mitral valve prolapse, Microcornea, Short columella, Astigmatism, Constipation, T...	OMIM:601776
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Immunodeficiency 110 With Lymphoproliferation	Secundum atrial septal defect, Recurrent upper respiratory tract infections, Recurrent aphthous s...	OMIM:614868
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat...	OMIM:619371
Meacham Syndrome	Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Cryptorchidism, Ano...	ORPHA:3097
White Forelock With Malformations	Atrial septal defect	ORPHA:2475
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Depressed nasal bridge, Failure to thrive in infancy, Optic nerve hypoplasia,...	ORPHA:500150
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Anomalous pulmonary venous return, Abnormal aortic valve morphology, Atria...	ORPHA:1120
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Head-banging, Self-injurious behavior, Attention deficit hyperactivity disorder, Frequent temper ...	OMIM:619575
Achondrogenesis, Type Ia	Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Disproportionate short-trunk ...	OMIM:200600
Diamond-Blackfan Anemia 7	Ventricular septal defect, Choanal atresia, Secundum atrial septal defect, Growth delay, Esophagi...	OMIM:612562
Recombinant 8 Syndrome	Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Cryptorchidism, Atrial septa...	ORPHA:96167
Alpha-Mannosidosis, Infantile Form	Astigmatism, Corneal opacity, Cataract	ORPHA:309282
Stuve-Wiedemann Syndrome 1	Anteverted nares, Short stature, Premature skin wrinkling, Opacification of the corneal stroma, D...	OMIM:601559
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Ventricular septal defect, Depressed nasal bridge, Short stature	OMIM:616901
Tangier Disease	Corneal opacity	ORPHA:31150
Heterotaxy, Visceral, 5, Autosomal	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Asplenia, Partial anomalous pulm...	OMIM:270100
Acrofacial Dysostosis, Catania Type	Cryptorchidism, Short nose, Short stature, Intrauterine growth retardation	ORPHA:1786
Van Esch-O'Driscoll Syndrome	Ventricular septal defect, Depressed nasal bridge, Short stature, Growth delay, Atrial septal def...	OMIM:301030
Buratti-Harel Syndrome	Atrial septal defect, Cryptorchidism, Gastroesophageal reflux	OMIM:619314
Distal 22Q11.2 Microdeletion Syndrome	Ventricular septal defect, Prominent nasal bridge, Choanal atresia, Underdeveloped nasal alae, Bo...	ORPHA:261330
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventricular canal defect, Common ...	ORPHA:1330
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation	OMIM:617914
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cutis marmorata, Hypoplas...	OMIM:100300
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Shallow anterior chamber	OMIM:305390
Adenylosuccinase Deficiency	Growth delay, Short nose, Anteverted nares	OMIM:103050
Trichothiodystrophy	Ventricular septal defect, Prematurely aged appearance, Cryptorchidism, Bilateral microphthalmos,...	ORPHA:33364
Toriello-Carey Syndrome	Short stature, Postnatal growth retardation, Cryptorchidism, Cardiomyopathy, Abnormal cardiac sep...	ORPHA:3338
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect	OMIM:618901
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,...	OMIM:613854
Aicardi Syndrome	Cataract, Anteverted nares, Postnatal growth retardation, Chorioretinal lacunae, Hepatoblastoma, ...	OMIM:304050
Retinitis Pigmentosa And Erythrocytic Microcytosis	Pallor	OMIM:616959
Phaver Syndrome	Ventricular septal defect, Pterygium, Depressed nasal bridge, Intrauterine growth retardation	ORPHA:2876
3Mc Syndrome 1	Conjunctival telangiectasia, Ventricular septal defect, Supernumerary nipple, Postnatal growth re...	OMIM:257920
Diamond-Blackfan Anemia 1	Tricuspid stenosis, Congestive heart failure, Pallor, Intrauterine growth retardation, Spina bifi...	OMIM:105650
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Ventricular septal defect, Gonadotropin deficiency, Decreased response to g...	OMIM:610978
Bent Bone Dysplasia Syndrome 2	Atrial septal defect, Hepatomegaly, Depressed nasal bridge, Intrauterine growth retardation	OMIM:620076
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bicuspid aortic valve, Optic nerve hypoplasia, Supernumerary nipple, Underdeveloped nasal alae, B...	ORPHA:453504
Warsaw Breakage Syndrome	Ventricular septal defect, Cutis marmorata, Postnatal growth retardation, Intrauterine growth ret...	OMIM:613398
Thrombocytopenia-Absent Radius Syndrome	Cataract, Anteverted nares, Corneal opacity, Ventricular septal defect, Short stature, Pancreatic...	OMIM:274000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bicuspid aortic valve, Optic nerve hypoplasia, Supernumerary nipple, Underdeveloped nasal alae, B...	ORPHA:352665
Congenital Myopathy 22B, Severe Fetal	Hepatomegaly, Short nose, Wide nasal bridge	OMIM:620369
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Depressed nasal bridge, Short stature, Disproportionate short-trunk short stature, Increased size...	ORPHA:457395
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Short stature, Small for gestational age, Failure to thrive in infancy, Delayed puberty, Atrial s...	OMIM:618891
Chromosome 16P13.3 Duplication Syndrome	Wide nose, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Cryptorchidism, B...	OMIM:613458
Mucopolysaccharidosis Type 3	Cataract, Corneal opacity, Opacification of the corneal stroma	ORPHA:581
Den Hoed-De Boer-Voisin Syndrome	Agitation, Abnormal repetitive mannerisms, Stereotypical hand wringing, Dysphagia	OMIM:619229
Congenital Tracheomalacia	Cyanosis, Ventricular septal defect, Cardiomegaly, Recurrent upper respiratory tract infections, ...	ORPHA:95430
Ellis Van Creveld Syndrome	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,...	ORPHA:289
Neurodegeneration With Brain Iron Accumulation 2A	Short nose	OMIM:256600
Toriello-Lacassie-Droste Syndrome	Anteverted nares, Growth delay, Abnormal conjunctiva morphology, Limbal dermoid, Short nose, Fail...	ORPHA:3339
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Cryptorchidism, Ventricular septal defect, Supernumerary nipple	ORPHA:2519
Sotos Syndrome	Cataract, Ventricular septal defect, Hypercalcemia, Cryptorchidism, Abnormal heart morphology, Hy...	ORPHA:821
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Abdominal...	OMIM:617205
Delpire-Mcneill Syndrome	Ventricular septal defect, Dysphagia	OMIM:619083
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Asplenia, Cryptorchidism, Abdominal situs inversus, Pulmonic stenosis,...	OMIM:619123
Atelosteogenesis, Type I	Depressed nasal bridge, Rhizomelia, Cryptorchidism, Stillbirth, Disproportionate short-limb short...	OMIM:108720
Pituitary Deficiency Due To Rathke Cleft Cysts	Intracranial hemorrhage	ORPHA:91350
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Depressed nasal bridge, Prominent nasal bridge, Supernumerary nipple, Secundum atrial septal defe...	OMIM:619951
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect, Proportionate short stature	OMIM:609654
Otopalatodigital Syndrome, Type I	Short nose, Short stature, Wide nasal bridge	OMIM:311300
Osteogenesis Imperfecta	Abnormal endocardium morphology, Aortic regurgitation, Cerebral hemorrhage, Mitral valve prolapse...	ORPHA:666
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect	OMIM:212090
Nelson Syndrome	Intracranial hemorrhage, Hypertension	ORPHA:199244
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Short nose, Anosmia	ORPHA:1295
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Intraventricular hemorrhage	OMIM:613603
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Ventricular septal defect, Short stature, Phthisis bulbi, Absent anterior...	OMIM:259770
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Depressed nasal bridge, Anteverted nares, Postnatal growth retardation, Mitral valve prolapse, Mi...	ORPHA:536467
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Beaulieu-Boycott-Innes Syndrome	Long nose, Ventricular septal defect, Low hanging columella	OMIM:613680
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Prominent nose, Cryptorchidism, Stillbirth, Microphthalmia	OMIM:616300
Townes-Brocks Syndrome	Limbal dermoid, Cataract, Iris coloboma, Chorioretinal coloboma	ORPHA:857
Peters-Plus Syndrome	Cataract, Retinal coloboma, Iris coloboma, Peters anomaly	OMIM:261540
Grange Syndrome	Ventricular septal defect	ORPHA:79094
Opitz Gbbb Syndrome	Enlarged ovaries, Anteverted nares, Ventricular septal defect, Short stature, Cryptorchidism, Wid...	ORPHA:2745
Acrocallosal Syndrome	Abnormal pulmonary valve morphology, Postnatal growth retardation, Cryptorchidism, Wide nasal bri...	OMIM:200990
Fabry Disease	Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy	ORPHA:324
Chromosome 15Q25 Deletion Syndrome	Ventricular septal defect, Dextrocardia, Short stature, Cryptorchidism, Growth delay, Coronary ar...	OMIM:614294
Robinow Syndrome, Autosomal Dominant 2	Depressed nasal bridge, Short stature, Anteverted nares, Cryptorchidism, Short nose	OMIM:616331
Difference Of Sex Development-Intellectual Disability Syndrome	Short nose	ORPHA:2983
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At...	ORPHA:261183
Stickler Syndrome	Cataract, Anteverted nares, Depressed nasal bridge, Cachexia, Ectopia lentis, Short stature, Depr...	ORPHA:828
Cardiomyopathy, Dilated, 1Oo	Atrial septal defect, Dilated cardiomyopathy	OMIM:620247
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Iris atrophy, Short stature, Wide nasal bridge	OMIM:201180
Ellis-Van Creveld Syndrome	Cryptorchidism, Ectodermal dysplasia, Disproportionate short-limb short stature, Atrial septal de...	OMIM:225500
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Abnormality of alkaline phosphatase level, Elevated circulating cr...	OMIM:137920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Hypoplasia of the reti...	OMIM:253280
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Cryptorchidism, Short nose, Depressed nasal bridge, Supernumerary nipple	ORPHA:1812
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Ectopic posterior pituitary, Infancy onset short-trunk short stature...	ORPHA:508488
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Cataract, Bicuspid aortic valve, Ventricular septal defect, Short stature, Cryptorchidism, Obesit...	ORPHA:353281
Rhombencephalosynapsis	Septo-optic dysplasia, Anteverted nares, Short nose	ORPHA:59315
Schimke Immunoosseous Dysplasia	Astigmatism, Opacification of the corneal stroma	OMIM:242900
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Adrenal hyperplasia, Depressed nasal bridge, Choanal atresia, Elevated circulating luteinizing ho...	ORPHA:95699
Alzahrani-Kuwahara Syndrome	Cataract, Ventricular septal defect, Short stature, Coronary sinus enlargement, Prominent nose, B...	OMIM:619268
Aicardi Syndrome	Constipation, Gastroesophageal reflux, Chorioretinal coloboma, Delayed puberty, Hepatoblastoma, M...	ORPHA:50
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Prominent nose, Cardiomegaly, Cryptorchidism, Postnatal ...	ORPHA:96191
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Neurofibromatosis Type 1	Cataract, Corneal opacity, Chorioretinal coloboma, Lisch nodules, Heterochromia iridis	ORPHA:636
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hair-pulling, Hyperactivity, Abnormal repetitive mannerisms, Dysphagia	ORPHA:447997
Dpagt1-Cdg	Intracranial hemorrhage, Prolonged QT interval, Stroke-like episode	ORPHA:86309
Chime Syndrome	Corneal opacity, Retinal coloboma	ORPHA:3474
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, Asplenia, Partial anoma...	OMIM:265380
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Osteogenesis Imperfecta, Type Xvii	Intraventricular hemorrhage	OMIM:616507
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ...	ORPHA:1134
Pfeiffer Syndrome	Depressed nasal bridge, Choanal stenosis, Choanal atresia, Short nose	OMIM:101600
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Buphthalmos, Keratoconjunctivitis sicca, Corneal opacity, Corneal dystrophy	ORPHA:495875
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Hydrocele testis, Patent foramen ovale	OMIM:618832
Goldberg-Shprintzen Syndrome	Ventricular septal defect, Prominent nasal bridge, Bulbous nose, Corneal erosion, Wide nasal brid...	OMIM:609460
Opitz Gbbb Syndrome	Abnormal nasopharynx morphology, Anteverted nares, Ventricular septal defect, Cryptorchidism, Wid...	OMIM:300000
Osteoglophonic Dysplasia	Severe short stature, Depressed nasal bridge, Anteverted nares, Choanal atresia, Rhizomelia, Cryp...	OMIM:166250
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Cryptorchidism, Wide nasal bridge, Antecubital pterygium, Popliteal pterygium, Total anomalous pu...	OMIM:609945
Methimazole Embryofetopathy	Intrauterine growth retardation, Ventricular septal defect, Choanal atresia	ORPHA:1923
Hypomandibular Faciocranial Dysostosis	Atrial septal defect, Choanal stenosis	OMIM:241310
Congenital Disorder Of Deglycosylation 1	Corneal ulceration, Corneal opacity	OMIM:615273
Isolated Klippel-Feil Syndrome	Ventricular septal defect	ORPHA:2345
Ablepharon Macrostomia Syndrome	Corneal erosion, Corneal opacity	ORPHA:920
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Repetitive compulsive behavior, Abnormal repetitive mannerisms, Self-mutilation, Self-biting	ORPHA:522077
Trisomy 20P	Macroorchidism, Cryptorchidism, Short nose, Anteverted nares	ORPHA:261318
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Anteverted nares, Depressed nasal bridge, Rhizomelia, Bulbous nose, Posterior subcapsular catarac...	OMIM:271510
Diamond-Blackfan Anemia 4	Atrial septal defect, Growth delay, Short stature	OMIM:612527
Mucopolysaccharidosis, Type Vi	Corneal opacity	OMIM:253200
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Atrial septal defect, Ventricular septal defect, Hepatic fibrosis	OMIM:263520
Mckusick-Kaufman Syndrome	Ventricular septal defect, Short stature, Cryptorchidism, Tetralogy of Fallot, Hypoplastic left h...	ORPHA:2473
Double Outlet Left Ventricle	Double outlet left ventricle, Cyanosis, Ventricular septal defect, Cardiomegaly, Cryptorchidism, ...	ORPHA:3427
Larsen Syndrome	Depressed nasal bridge, Corneal opacity, Ventricular septal defect, Short stature, Cryptorchidism...	OMIM:150250
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent nipple, Depressed nasal bridge, Underdeveloped nasal alae, Aplasia/Hypoplastia of the eccr...	OMIM:305100
Tetralogy Of Fallot	Intrauterine growth retardation, Tetralogy of Fallot	ORPHA:3303
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Hypercholesterolemia, Decreased response to growth hormone stimula...	ORPHA:273
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Abnormal repetitive mannerisms, Dysphagia	ORPHA:496641
Arboleda-Tham Syndrome	Ventricular septal defect, Prominent nasal bridge, Broad nasal tip, Bilateral cryptorchidism, Bif...	OMIM:616268
Cornelia De Lange Syndrome 1	Depressed nasal bridge, Choanal atresia, Anteverted nares, Ventricular septal defect, Cutis marmo...	OMIM:122470
Down Syndrome	Ventricular septal defect, Short stature, Brushfield spots, Complete atrioventricular canal defec...	OMIM:190685
Antley-Bixler Syndrome	Short nose, Anteverted nares, Choanal atresia	ORPHA:83
Ring Chromosome 12 Syndrome	Small for gestational age, Secundum atrial septal defect, Cryptorchidism, Growth delay, Breast hy...	ORPHA:1439
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Telangiectasia, Hematochezia, Mitral valve prolapse, Hepatic arteriovenous malformation	OMIM:175050
Coffin-Siris Syndrome 12	Elevated hepatic transaminase, Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, ...	OMIM:619325
Branchiooculofacial Syndrome	Cataract, Retinal coloboma, Iris coloboma	OMIM:113620
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Ventricular septal defect	ORPHA:2476
Multiple Endocrine Neoplasia Type 2	Pallor, Palpitations, Hypertensive crisis, Hypertension associated with pheochromocytoma	ORPHA:653
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Intrauterine...	OMIM:617022
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Anteverted nares, Choanal atresia, Ventricular septal defect, Partial anomalous pulmonary venous ...	OMIM:301044
Holoprosencephaly-Postaxial Polydactyly Syndrome	Cryptorchidism, Abnormal cardiac septum morphology, Absent nares, Microphthalmia, Thyroid hypoplasia	ORPHA:2166
Autosomal Recessive Malignant Osteopetrosis	Pulmonary arterial hypertension, Hydrocephalus, Pallor	ORPHA:667
Pallister-Hall Syndrome	Large for gestational age, Gonadotropin deficiency, Depressed nasal ridge, Atrial septal defect, ...	ORPHA:672
Gaucher Disease, Type Iiic	Opacification of the corneal stroma	OMIM:231005
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Long nose, Short nose, Depressed nasal bridge	OMIM:618590
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short nose, Depressed nasal bridge, Short stature	OMIM:616723
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Short nose, Failure to thrive, Dysphagia	OMIM:617527
Agnathia-Otocephaly Complex	Secundum atrial septal defect, Wide nose, Situs inversus totalis	OMIM:202650
Infection-Related Hemolytic Uremic Syndrome	Myocarditis, Hypertension, Pallor, Hypertensive crisis	ORPHA:544482
Tetrasomy 15Q26	Atrial septal defect, Intrauterine growth retardation	OMIM:614846
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect, Depressed nasal bridge	OMIM:617895
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect, Mitral stenosis, Tetralog...	ORPHA:2847
Cerebellofaciodental Syndrome	Cataract, Ventricular septal defect, Short stature, Cryptorchidism, Mitral valve prolapse	OMIM:616202
Plaa-Associated Neurodevelopmental Disorder	Impaired oropharyngeal swallow response, Short nose, Failure to thrive	ORPHA:521426
Carey-Fineman-Ziter Syndrome	Growth delay, Short nose, Anteverted nares, Short stature	ORPHA:1358
Riddle Syndrome	Conjunctival telangiectasia, Intraventricular hemorrhage, Telangiectasia	ORPHA:420741
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Wide nose, Atrial septal defect, Anteverted nares, Depressed nasal bridge, Ventricu...	ORPHA:96334
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Subdural hemorrhage	OMIM:619714
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Abnormal repetitive mannerisms	ORPHA:300570
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis	OMIM:178650
Scimitar Syndrome	Ventricular septal defect, Dextrocardia, Mitral atresia, Partial anomalous pulmonary venous retur...	ORPHA:185
Cardiomyopathy, Familial Hypertrophic, 11	Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri...	OMIM:612098
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Gastroesophageal reflux, Atrial septal defect, Patent foramen ovale, Short...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Gastroesophageal reflux, Atrial septal defect, Patent foramen ovale, Short...	ORPHA:353277
Tetraamelia Syndrome 1	Cataract, Choanal atresia, Asplenia, Single naris, Microphthalmia, Adrenal gland agenesis	OMIM:273395
Cardiac Diverticulum	Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ...	ORPHA:1686
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Short stature, Hypoplastic left heart, Aortic valve stenosis, Atrial septal defect, Mitral stenosis	OMIM:617660
Atrial Septal Defect 9	Secundum atrial septal defect, Bicuspid aortic valve	OMIM:614475
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Keratoconus, Gastroesophageal reflux, Patent foramen ovale	ORPHA:542306
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy	ORPHA:53296
Pitt-Hopkins Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:610954
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Atrial septal defect, Depressed nasal bridge, Choanal stenosis, Choanal atresia	OMIM:207410
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovascularization, Elevated circ...	ORPHA:91500
Mucopolysaccharidosis, Type Iva	Opacification of the corneal stroma	OMIM:253000
Lymphatic Malformation 13	Depressed nasal bridge, Hydrocele testis, Neonatal death, Atrial septal defect, Patent foramen ovale	OMIM:620244
Holoprosencephaly 9	Anophthalmia, Depressed nasal bridge, Decreased response to growth hormone stimulation test, Ante...	OMIM:610829
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Ventricular septal defect, Short stature, Multiple pterygia, Antecubital pterygium, Popliteal pte...	OMIM:178110
Brachydactyly, Type B1	Ventricular septal defect	OMIM:113000
Maternal Phenylketonuria	Anteverted nares, Ventricular septal defect, Wide nasal bridge, Abnormal heart morphology, Hypopl...	ORPHA:2209
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Narrow nasal ridge, Cryptorchidism, Bulbous nose, Atrial septal defect, Failure to thrive, Low ha...	OMIM:619512
Vacterl With Hydrocephalus	Anophthalmia, Cryptorchidism, Microcornea, Microphthalmia, Intrauterine growth retardation	ORPHA:3412
Blomstrand Lethal Chondrodysplasia	Cataract, Depressed nasal bridge, Anteverted nares, Rhizomelia, Short nose, Neonatal short-limb s...	ORPHA:50945
Microphthalmia, Syndromic 1	Optic disc coloboma, Microcornea, Ciliary body coloboma, Chorioretinal coloboma, Iris coloboma	OMIM:309800
Ayme-Gripp Syndrome	Pericarditis, Depressed nasal bridge, Short stature, Wide nasal bridge, Developmental cataract, S...	OMIM:601088
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Short stature, Diarrhea, Recurrent upper respiratory tract infections, Enterocolitis, Hepatitis, ...	ORPHA:391487
Osteopathia Striata With Cranial Sclerosis	Ventricular septal defect, Short stature, Wide nasal bridge, Gastroesophageal reflux, Atrial sept...	OMIM:300373
Manitoba Oculotrichoanal Syndrome	Bifid nasal tip, Microphthalmia, Anophthalmia, Broad nasal tip	OMIM:248450
Schinzel-Giedion Syndrome	Streak ovary, Failure to thrive in infancy, Broad nasal tip, Abnormal heart morphology, Choanal s...	ORPHA:798
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage	OMIM:616682
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu...	ORPHA:99095
Feingold Syndrome 1	Accessory spleen, Anteverted nares, Ventricular septal defect, Tricuspid stenosis, Asplenia, Wide...	OMIM:164280
Criss-Cross Heart	Cyanosis, Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pul...	ORPHA:1461
Lymphatic Malformation 6	Short stature, Splenomegaly, Hydrocele testis, Gastroesophageal reflux, Atrial septal defect	OMIM:616843
Neurofibroma	Enlargement of parotid gland, Intestinal bleeding, Abnormal biliary tract morphology	ORPHA:252183
Nablus Mask-Like Facial Syndrome	Depressed nasal bridge, Anteverted nares, Cryptorchidism, Wide nasal bridge, Hypoplastic nipples,...	OMIM:608156
Mosaic Trisomy 16	Ventricular septal defect, Small for gestational age, Abnormality of the nose, Abnormal heart mor...	ORPHA:1708
Specc1L-Related Hypertelorism Syndrome	Ventricular septal defect, Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Atrial sept...	ORPHA:1519
Collagenoma, Familial Cutaneous	Iris atrophy, Right ventricular cardiomyopathy, Primary testicular failure, Cardiomyopathy	OMIM:115250
Lateral Meningocele Syndrome	Ventricular septal defect, Bicuspid aortic valve, Short stature, Cryptorchidism, Short nasal bridge	OMIM:130720
Monosomy 9P	Depressed nasal bridge, Anteverted nares, Choanal atresia, Cryptorchidism, Microphthalmia, Short ...	ORPHA:261112
Fanconi Anemia, Complementation Group B	Growth delay, Intrauterine growth retardation, Ventricular septal defect, Optic disc hypoplasia	OMIM:300514
Esophageal Atresia	Cyanosis, Ventricular septal defect, Small for gestational age, Failure to thrive in infancy, Cho...	ORPHA:1199
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cataract, Underdeveloped nasal alae, Wide nasal bridge, Bifid nose, Microphthalmia, Tetralogy of ...	ORPHA:306542
Craniotubular Dysplasia, Ikegawa Type	Mydriasis	OMIM:619727
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Progeroid facial appearance, Wide nasal bridge, Growth delay, Hypoplasia of the...	OMIM:613177
Peho Syndrome	Short nose, Anteverted nares	ORPHA:2836
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Anteverted nares, Ventricular septal defect, Short stature, Broad nasal tip, Long nose, Cryptorch...	OMIM:619522
Floating-Harbor Syndrome	Narrow nasal bridge, Small for gestational age, Short stature, Broad nasal tip, Long nose, Crypto...	ORPHA:2044
Cerebrofaciothoracic Dysplasia	Wide nose, Short stature, Short nose	ORPHA:1394
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Severe short stature, Ventricular septal defect, Bicuspid aortic valve, Ectopia lentis, Decreased...	OMIM:271640
Congenital Pulmonary Valvar Stenosis	Atrial septal defect	ORPHA:3189
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Prominent scalp veins, Hypertriglyceridemia, Small for gesta...	OMIM:264090
Fanconi Anemia, Complementation Group R	Growth delay, Microphthalmia	OMIM:617244
Bosma Arhinia Microphthalmia Syndrome	Cataract, Choanal atresia, Cryptorchidism, Anosmia, Aplasia of the nose, Microphthalmia	OMIM:603457
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
Diamond-Blackfan Anemia 21	Cutis marmorata, Short stature, Secundum atrial septal defect, Chronic diarrhea, Obesity	OMIM:620072
Microcephaly 30, Primary, Autosomal Recessive	Secundum atrial septal defect, Intrauterine growth retardation, Choanal stenosis	OMIM:620183
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Cyanosis, Ventricular septal defect, Tetralogy of Fallot, Aortopulmonary window, Hypoplastic left...	ORPHA:99050
Distal Deletion 9P	Short nose, Wide nasal bridge	ORPHA:1642
Oculotrichoanal Syndrome	Bifid nasal tip, Microphthalmia, Anophthalmia	ORPHA:2717
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose	ORPHA:1129
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Ventricular septal defect, Optic nerve hypoplasia, Cryptorchidism, Bulbous nose, Ao...	OMIM:620025
Lethal Kniest-Like Dysplasia	Atrial septal defect, Severe short-limb dwarfism, Mesomelic/rhizomelic limb shortening	ORPHA:2347
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Cataract, Depressed nasal bridge, Bicuspid aortic valve, Ventricula...	OMIM:607872
Roberts Syndrome	Cataract, Underdeveloped nasal alae, Postnatal growth retardation, Cryptorchidism, Severe intraut...	ORPHA:3103
Kindler Epidermolysis Bullosa	Conjunctivitis, Corneal opacity	ORPHA:2908
Serkal Syndrome	Growth delay, Ventricular septal defect, Pulmonic stenosis	ORPHA:139466
Cousin Syndrome	Microcornea, Microphthalmia, Disproportionate short stature, Rhizomelia	OMIM:260660
Cardioacrofacial Dysplasia 2	Prominent nasal tip, Atrioventricular canal defect, Common atrium	OMIM:619143
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Ventricular septal defect, Erythema, Corneal scarring, Growth delay, Gastroesophageal reflux, Int...	OMIM:614653
Microphthalmia With Limb Anomalies	Depressed nasal bridge, Short stature, Cryptorchidism, Microphthalmia, Failure to thrive, True an...	ORPHA:1106
Oligomeganephronia	Secundum atrial septal defect, Elevated circulating creatinine concentration, Small for gestation...	ORPHA:2260
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Atrial septal defect, Anteverted nares, Depressed nasal bridge, Supernumerary nippl...	OMIM:312870
Atrial Septal Defect 5	Secundum atrial septal defect	OMIM:612794
Atrial Septal Defect 3	Secundum atrial septal defect	OMIM:614089
Proximal Spinal Muscular Atrophy	Gastroparesis, Constipation, Gastroesophageal reflux, Dysphagia, Atrial septal defect	ORPHA:70
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cataract, Astigmatism, Retinal coloboma, Axenfeld anomaly, Iris coloboma	ORPHA:261537
Meningioma	Syncope, Cerebral hemorrhage	ORPHA:2495
Skin Creases, Congenital Symmetric Circumferential, 2	Depressed nasal bridge, Short stature, Cryptorchidism, Wide nasal bridge, Microcornea, Microphtha...	OMIM:616734
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Ventricular septal defect, Optic nerve hypoplasia, Broad nasal tip, Wide nasal bridge, Constipati...	OMIM:620330
1P21.3 Microdeletion Syndrome	Short nose, Astigmatism, Obesity, Broad nasal tip	ORPHA:293948
Mucopolysaccharidosis Type 2, Severe Form	Abnormal uvea morphology, Corneal opacity	ORPHA:217085
White-Kernohan Syndrome	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Obesity, Gastroesophageal re...	OMIM:619426
Mowat-Wilson Syndrome	Bicuspid aortic valve, Asplenia, Vomiting, Broad columella, Iris coloboma, Short stature, Cryptor...	ORPHA:2152
Thakker-Donnai Syndrome	Ventricular septal defect, Anteverted nares, Bulbous nose, Transposition of the great arteries, I...	ORPHA:1780
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal uvea morphology, Corneal opacity	ORPHA:217093
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Severe short stature, Optic nerve hypoplasia, Prominent nasal bridge, Cryptorchidism, Bilateral m...	ORPHA:468631
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Increased axial length of th...	ORPHA:513456
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect	OMIM:601357
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Corneal opacity, Keratitis, Corneal erosion, Uveitis, Astigmatism, Conjunctivitis	ORPHA:2273
Menke-Hennekam Syndrome 1	Narrow nasal bridge, Cataract, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal ala...	OMIM:618332
Pfeiffer Syndrome Type 2	Short nose, Depressed nasal bridge, Choanal atresia	ORPHA:93259
Orofaciodigital Syndrome Type 4	Decreased testicular size, Wide nose, Severe short stature, Monorchism, Choanal atresia, Depresse...	ORPHA:2753
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Pfeiffer Syndrome Type 1	Short nose, Depressed nasal bridge	ORPHA:93258
Ulnar-Mammary Syndrome	Ventricular septal defect, Short stature, Cryptorchidism, Obesity, Breast aplasia, Hypoplastic ni...	ORPHA:3138
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Ventricular septal defect	OMIM:607598
Fanconi Anemia, Complementation Group L	Wide nasal bridge, Depressed nasal tip, Growth delay, Microphthalmia, Intrauterine growth retarda...	OMIM:614083
Coffin-Lowry Syndrome	Wide nose, Anteverted nares, Cutis marmorata, Short stature, Thick nasal septum, Acrocyanosis, De...	OMIM:303600
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma	ORPHA:79280
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Short stature, Cryptorchidism, Wide nasal bridge, Intrauterine growth retardati...	ORPHA:2282
Late-Onset Retinal Degeneration	Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin...	ORPHA:67042
Pfeiffer Syndrome Type 3	Short nose, Depressed nasal bridge, Choanal atresia	ORPHA:93260
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Depressed nasal bridge, Small for gestational age, Short stature, Broad nasal tip, Cryptorchidism...	OMIM:309590
Ring Chromosome 7 Syndrome	Anteverted nares, Prominent nasal bridge, Short stature, Situs inversus totalis, Wide nasal bridg...	ORPHA:1449
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Fraser Syndrome 1	Wide nose, Cleft ala nasi, Anophthalmia, Corneal opacity, Depressed nasal bridge, Underdeveloped ...	OMIM:219000
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect, Broad columella, Short stature, Underdeveloped nasal alae	OMIM:250410
Turnpenny-Fry Syndrome	Mitral valve prolapse, Chronic constipation, Gastroesophageal reflux, Constipation, Tricuspid val...	OMIM:618371
Frontometaphyseal Dysplasia 2	Bicuspid aortic valve, Depressed nasal bridge, Broad nasal tip, Cryptorchidism, Wide nasal bridge...	OMIM:617137
Acute Transverse Myelitis	Hypertension, Orthostatic hypotension, Subarachnoid hemorrhage	ORPHA:139417
Femoral-Facial Syndrome	Truncus arteriosus, Ventricular septal defect, Short stature, Underdeveloped nasal alae, Cryptorc...	OMIM:134780
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Decreased serum iron, Short stature, Cryptorchi...	ORPHA:438213
Robinow Syndrome, Autosomal Recessive 1	Depressed nasal bridge, Anteverted nares, Short stature, Cryptorchidism, Wide nasal bridge, Short...	OMIM:268310
Fraser Syndrome 2	Microphthalmia, Wide nose, Hypoplasia of the thymus, Underdeveloped nasal alae	OMIM:617666
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Hypoplastic Left Heart Syndrome	Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Mitral atresia	ORPHA:2248
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Atrial septal defect, Growth delay, Short stature	ORPHA:93947
Spondylocarpotarsal Synostosis Syndrome	Cataract, Anteverted nares, Broad nasal tip, Disproportionate short-trunk short stature, Short nose	OMIM:272460
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Abnormal tricuspid valve morphology	ORPHA:3405
Truncus Arteriosus	Cyanosis, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal hear...	ORPHA:3384
Kinsship Syndrome	Abnormal repetitive mannerisms, Bruxism	OMIM:619297
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Hypoplastic left heart,...	OMIM:301043
Autosomal Dominant Cutis Laxa	Corneal opacity, Developmental cataract	ORPHA:90348
Van Den Ende-Gupta Syndrome	Sclerocornea	OMIM:600920
Neurofibromatosis-Noonan Syndrome	Depressed nasal bridge, Short stature, Secundum atrial septal defect, Cryptorchidism, Prominent n...	OMIM:601321
Autosomal Dominant Robinow Syndrome	Wide nose, Severe short stature, Depressed nasal bridge, Anteverted nares, Short stature, Cryptor...	ORPHA:3107
Dysosteosclerosis	Ventricular septal defect, Short stature	ORPHA:1782
Mucopolysaccharidosis Type 2	Corneal opacity	ORPHA:580
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Ebstein anomaly of the tricuspid valve, Abnormal cardiac septum ...	ORPHA:1880
Absence Of The Pulmonary Artery	Cyanosis, Cardiomegaly, Abnormal heart morphology, Growth delay, Abnormal cardiac septum morpholo...	ORPHA:980
Scorpion Envenomation	Mydriasis	ORPHA:466677
Carpenter Syndrome 2	Anteverted nares, Depressed nasal bridge, Supernumerary nipple, Dextrocardia, Bilateral cryptorch...	OMIM:614976
Faciodigitogenital Syndrome, Autosomal Recessive	Anteverted nares, Prominent nasal bridge, Proportionate short stature, Cryptorchidism, Short nose	OMIM:227330
Xeroderma Pigmentosum	Conjunctival telangiectasia, Cataract, Keratitis, Opacification of the corneal stroma, Pterygium	ORPHA:910
Gabriele-De Vries Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Oral-pharyngeal...	ORPHA:506358
Apert Syndrome	Overriding aorta, Depressed nasal bridge, Choanal atresia, Ventricular septal defect, Cryptorchid...	OMIM:101200
Developmental And Epileptic Encephalopathy 100	Abnormal repetitive mannerisms, Dysphagia	OMIM:619777
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Perianal erythema, Short stature, Keratitis, Cryptorchidism, Recurrent upper respiratory tract in...	OMIM:308205
Restrictive Dermopathy 1	Prominent superficial blood vessels, Depressed nasal bridge, Choanal atresia, Narrow nasal ridge,...	OMIM:275210
Gaucher Disease	Corneal opacity	ORPHA:355
Coffin-Siris Syndrome 1	Depressed nasal bridge, Choanal atresia, Ventricular septal defect, Broad nasal tip, Cutis marmor...	OMIM:135900
Diamond-Blackfan Anemia 5	Ventricular septal defect, Short stature	OMIM:612528
X Small Rings	Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Growth delay, Mitral stenosis	ORPHA:96201
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Ventricular septal defect, Wide nasal ridge, Cryptorchidism, Dilatation of the ventricular cavity...	ORPHA:459070
Intellectual Developmental Disorder, Autosomal Dominant 53	Growth delay, Cryptorchidism, Ventricular septal defect	OMIM:617798
Fanconi Anemia, Complementation Group N	Postnatal growth retardation, Ventricular septal defect	OMIM:610832
Diamond-Blackfan Anemia 10	Growth delay, Ventricular septal defect, Choanal atresia, Short stature	OMIM:613309
Costello Syndrome	Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Short stature, Mitral valve ...	OMIM:218040
Familial Adenomatous Polyposis	Cholangiocarcinoma, Pancreatic adenocarcinoma, Goiter, Pituitary adenoma, Neoplasm of the gallbla...	ORPHA:733
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Craniofacial-Deafness-Hand Syndrome	Short nose, Depressed nasal bridge, Narrow naris	OMIM:122880
Vascular Ehlers-Danlos Syndrome	Keratoconus, Abnormal pupil morphology	ORPHA:286
Ring Chromosome 13 Syndrome	Hypoplasia of the gallbladder, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Growt...	ORPHA:96176
Noonan Syndrome 1	Failure to thrive in infancy, Ventricular septal defect, Short stature, Postnatal growth retardat...	OMIM:163950
C Syndrome	Anteverted nares, Failure to thrive in infancy, Depressed nasal bridge, Short stature, Cryptorchi...	ORPHA:1308
Holoprosencephaly 1	Short stature, Proboscis, Aplasia of the nose, Microphthalmia, Single ventricle	OMIM:236100
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Postnatal growth retardation, Cryptorc...	OMIM:616145
Chilton-Okur-Chung Neurodevelopmental Syndrome	Septo-optic dysplasia, Anteverted nares, Prominent nasal bridge, Anterior pituitary hypoplasia, D...	OMIM:619841
Aase-Smith Syndrome I	Ventricular septal defect	OMIM:147800
Combined Oxidative Phosphorylation Deficiency 15	Short stature, Ventricular septal defect, Obesity, Ventricular septal hypertrophy	OMIM:614947
Poland Syndrome	Atrial septal defect, Cryptorchidism, Abnormality of the liver, Dextrocardia	ORPHA:2911
Hereditary Acrokeratotic Poikiloderma	Opacification of the corneal stroma, Keratoconjunctivitis	ORPHA:2907
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Autosomal Recessive Faciodigitogenital Syndrome	Short nose, Anteverted nares, Prominent nasal bridge, Short stature	ORPHA:1974
Genitourinary And/Or Brain Malformation Syndrome	Aplasia of the nasal bone, Streak ovary, Cryptorchidism, Astigmatism, Short nose	OMIM:618820
Phocomelia, Schinzel Type	Cryptorchidism, Short nose, Disproportionate short stature, Intrauterine growth retardation	ORPHA:2879
Acromesomelic Dysplasia 1	Short nose, Disproportionate short stature	OMIM:602875
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Anteverted nares, Narrow nasal tip, Supernumerary nipple, Cryptorchidism, Wide nasal bridge, Pate...	ORPHA:477993
Mucolipidosis Ii Alpha/Beta	Megalocornea, Opacification of the corneal stroma	OMIM:252500
Marden-Walker Syndrome	Severe short stature, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Abnormal a...	ORPHA:2461
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Patent foramen ovale, Cataract, Depressed nasal bridge, Short stature	OMIM:300990
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect	OMIM:126320
Floating-Harbor Syndrome	Short stature, Prominent nasal bridge, Prominent nose, Underdeveloped nasal alae, Cryptorchidism,...	OMIM:136140
Tetraamelia Syndrome 2	Absent nipple, Ventricular septal defect	OMIM:618021
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Adrenal gland agenesis, Ventricular septal defect, Intrauterine growth retardation	OMIM:611812
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Short stature, Abnormal heart morphology, Mitral valve prolapse, Pulmo...	ORPHA:363700
Hypotonia, Ataxia, And Delayed Development Syndrome	Abnormal repetitive mannerisms, Dysphagia	OMIM:617330
Fraser Syndrome	Anophthalmia, Depressed nasal bridge, Cleft ala nasi, Underdeveloped nasal alae, Cryptorchidism, ...	ORPHA:2052
Aspartylglucosaminuria	Hepatomegaly, Splenomegaly, Wide nasal bridge, Macroorchidism, Short nose, Vascular skin abnormality	ORPHA:93
Pseudoaminopterin Syndrome	Short stature, Prominent nasal bridge, Asplenia, Cryptorchidism, Patent foramen ovale	ORPHA:221120
Penile Agenesis	Depressed nasal bridge, Ventricular septal defect, Cryptorchidism, Atrial septal defect, Short nose	ORPHA:49
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Cataract, Ventricular septal defect, Large for gestational age, Abnormal right ventricle morpholo...	ORPHA:500095
Orofaciodigital Syndrome V	Ventricular septal defect, Tetralogy of Fallot, Unilateral cryptorchidism	OMIM:174300
Plague	Conjunctival hyperemia, Mydriasis	ORPHA:707
Aortic Arch Interruption	Cyanosis, Bicuspid aortic valve, Ventricular septal defect, Aortic valve atresia, Double outlet r...	ORPHA:2299
Otopalatodigital Syndrome, Type Ii	Cataract, Depressed nasal bridge, Short stature, Postnatal growth retardation, Cryptorchidism, St...	OMIM:304120
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Cutis Laxa, Autosomal Dominant 1	Prematurely aged appearance, Ventricular septal defect, Progeroid facial appearance, Poor wound h...	OMIM:123700
Kabuki Syndrome 1	Ventricular septal defect, Short stature, Postnatal growth retardation, Cryptorchidism, Wide nasa...	OMIM:147920
Hypothyroidism, Congenital, Nongoitrous, 5	Growth delay, Patent foramen ovale, Thyroid hypoplasia, Ectopic thyroid	OMIM:225250
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Bicuspid aortic valve, Depressed nasal bridge, Small for gestational age, Short stature, Secundum...	OMIM:613355
Lymphatic Malformation 7	Pericardial effusion, Atrial septal defect	OMIM:617300
Aortic Valve Disease 2	Patent foramen ovale, Aortic valve stenosis, Bicuspid aortic valve, Pulmonic stenosis	OMIM:614823
Diets-Jongmans Syndrome	Ventricular septal defect, Short stature, Broad nasal tip, Cryptorchidism, Low hanging columella	OMIM:618846
Mosaic Trisomy 20	Ventricular septal defect, Cryptorchidism, Dysplastic tricuspid valve, Chronic constipation, Abno...	ORPHA:1724
Robinow Syndrome, Autosomal Dominant 1	Depressed nasal bridge, Anteverted nares, Short stature, Rhizomelia, Cryptorchidism, Wide nasal b...	OMIM:180700
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Atrial septal defect, Depressed nasal bridge	OMIM:616546
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Cryptorchidism, Episodic vomiting, Hypoplastic left heart, Tetralogy o...	OMIM:618748
Townes-Brocks Syndrome 1	Small for gestational age, Choanal atresia, Ventricular septal defect, Cryptorchidism, Gastroesop...	OMIM:107480
Pallister-Killian Syndrome	Cataract, Anteverted nares, Depressed nasal bridge, Supernumerary nipple, Ventricular septal defe...	OMIM:601803
Wiedemann-Rautenstrauch Syndrome	Cataract, Corneal opacity	ORPHA:3455
Goodpasture Syndrome	Pallor, Pulmonary hemorrhage	OMIM:233450
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Ventricular septal defect	ORPHA:1455
Ebstein Anomaly	Atrial septal defect, Ebstein anomaly of the tricuspid valve	OMIM:224700
Distal 22Q11.2 Microduplication Syndrome	Wide nose, Ventricular septal defect, Cryptorchidism, Bulbous nose, Depressed nasal ridge, Tricus...	ORPHA:261337
Early Infantile Epileptic Encephalopathy	Ventricular septal defect, Depressed nasal bridge, Failure to thrive, Anteverted nares	ORPHA:1934
Treacher Collins Syndrome 1	Choanal atresia, Cryptorchidism, Bilateral microphthalmos, Abnormal heart morphology, Abnormal pa...	OMIM:154500
Cerebrocostomandibular Syndrome	Atrial septal defect, Gastroesophageal reflux, Postnatal growth retardation, Ventricular septal d...	OMIM:117650
Microphthalmia, Syndromic 6	Anophthalmia, Sclerocornea, Cryptorchidism, Microcornea, Microphthalmia, Anterior hypopituitarism...	OMIM:607932
Nmda Receptor Encephalitis	Hypersexuality, Agitation, Abnormal repetitive mannerisms	ORPHA:217253
Cockayne Syndrome A	Cataract, Opacification of the corneal stroma	OMIM:216400
Faciocardiomelic Syndrome	Common atrium, Depressed nasal bridge, Anteverted nares, Large for gestational age	OMIM:612731
Restrictive Dermopathy	Aplasia/Hypoplasia involving the nose, Choanal atresia, Dextrocardia, Aplasia/Hypoplastia of the ...	ORPHA:1662
Genitopatellar Syndrome	Wide nose, Ventricular septal defect, Prominent nasal bridge, Prominent nose, Cryptorchidism, Wid...	OMIM:606170
Acrofacial Dysostosis 1, Nager Type	Ventricular septal defect, Prominent nasal bridge, Short stature, Urticaria, Tetralogy of Fallot	OMIM:154400
Holt-Oram Syndrome	Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart	OMIM:142900
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Ventricular septal defect, Wide nasal bridge, Supernumerary nipple	ORPHA:1071
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu...	ORPHA:99094
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:614756
Hand-Foot-Genital Syndrome	Ventricular septal defect	ORPHA:2438
Spondylometaphyseal Dysplasia, Sedaghatian Type	Rhizomelia, Depressed nasal bridge, Myocarditis, Disproportionate short stature, Atrial septal de...	OMIM:250220
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Depressed nasal bridge, Depressed nasal ridge, Concave nasal ridge, Disproportionate short-limb s...	OMIM:271665
Distal Deletion 19P	Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:96129
Holoprosencephaly 14	Anteverted nares, Ventricular septal defect, Proboscis, Aortic valve atresia, Double outlet right...	OMIM:619895
1P36 Deletion Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Polyphagia, Dysphagia	ORPHA:1606
Vater/Vacterl Association	Abnormal nasopharynx morphology, Ventricular septal defect, Choanal atresia, Postnatal growth ret...	OMIM:192350
Ventriculomegaly With Cystic Kidney Disease	Ventricular septal defect	OMIM:219730
Yunis-Varon Syndrome	Absent nipple, Small for gestational age, Failure to thrive in infancy, Cataract, Sclerocornea, A...	OMIM:216340
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou...	OMIM:615067
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect	OMIM:610338
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Short st...	OMIM:143095
Thauvin-Robinet-Faivre Syndrome	Mitral valve prolapse, Ventricular septal defect, Large for gestational age	OMIM:617107
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Opacification of the corneal stroma	OMIM:615287
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Growth delay, Cryptorchidism, Tetralogy of Fallot, Ventricular septal defect	OMIM:600460
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Bicuspid pulmonary valve, Mitr...	OMIM:609192
Cerebrocostomandibular Syndrome	Intrauterine growth retardation, Ventricular septal defect, Short stature	ORPHA:1393
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Ventricular septal defect, Anterior pituitary hypoplasia, Obesity, A...	OMIM:181450
Multiple System Atrophy 1, Susceptibility To	Iris atrophy	OMIM:146500
Keutel Syndrome	Ventricular septal defect, Depressed nasal bridge, Cartilaginous ossification of nose, Wide nasal...	OMIM:245150
Primrose Syndrome	Restlessness, Aggressive behavior, Self-injurious behavior, Tics, Attention deficit hyperactivity...	OMIM:259050
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Short stature, Secundum atrial septal defect, Subarterial ventricular septal defect, Developmenta...	ORPHA:99646
Orofaciodigital Syndrome Xiv	Atrial septal defect, Cryptorchidism, Ventricular septal defect	OMIM:615948
Renal Agenesis	Ventricular septal defect	ORPHA:411709
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Bicuspid pulmonary valve, Mitr...	OMIM:610168
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired pain sensation, Impaired distal vibration sensation, Impaired temperature sensation, Dys...	OMIM:619574
Diphallia	Atrial septal defect, Cryptorchidism, Abnormal heart morphology	ORPHA:227
Orofaciodigital Syndrome Type 14	Bilateral cryptorchidism, Bulbous nose, Ventricular septal defect	ORPHA:434179
Congenital Tracheal Stenosis	Ventricular septal defect, Cyanosis, Hypoplastic left heart	ORPHA:141127
Craniofacial Microsomia 1	Anophthalmia, Ventricular septal defect, Limbal dermoid, Microphthalmia, Tetralogy of Fallot	OMIM:164210
Tetralogy Of Fallot	Tetralogy of Fallot	OMIM:187500

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 Jag1

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 Jag1.

No publications found that use IMPC mice or data for Jag1.

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
Jag1^{tm256189(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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