Gombo Syndrome |
|
Abnormal heart morphology, Radial deviation of finger, Delayed puberty, Microphthalmia, Clinodact... |
OMIM:233270 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Renal agenesis, Cleft palate, Abnormal heart morphology, Upper limb phocomelia, Abnor... |
ORPHA:294975 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... |
OMIM:217095 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Hypospadias, Cleft upper lip, Cleft palate, Renal cyst, Right aortic a... |
OMIM:231060 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Limited elbow extension and supination, Brachydactyly, Ventricular sept... |
ORPHA:401935 |
Heterotaxy, Visceral, 7, Autosomal |
|
Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypo... |
OMIM:616749 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Renal agenesis, Renal hypoplasia/aplasia, High, narrow palate, Cleft p... |
ORPHA:2516 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Abdominal... |
OMIM:614779 |
Cardioacrofacial Dysplasia 2 |
|
Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Common atrium, Deep philtrum,... |
OMIM:619143 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Verheij Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Short stature, Renal... |
OMIM:615583 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Unilateral renal agenesis, Cleft palate, Truncus arteriosus, Short dis... |
OMIM:601355 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Cleft upper lip, Pericardial effusion, Cleft palate, Polydactyly, Talipes equinovar... |
OMIM:613885 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventricular septal defect, ... |
ORPHA:210122 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac... |
OMIM:217085 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Overlapping fingers, Hypoplastic right heart, Ventricular septal def... |
OMIM:618142 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Diastema, Complete atrioventricular canal defect, Postaxi... |
OMIM:619142 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... |
OMIM:615382 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Thin upper lip vermilion, Short stature, Cleft palate, Intrauterine growth retardation, Truncus a... |
OMIM:611867 |
Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery... |
OMIM:619702 |
Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Renal agenesis, Cleft upper lip, Complete atrioventricul... |
OMIM:264480 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septa... |
OMIM:306955 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Intestinal malrotation, Hypoplastic left atrium, Cleft p... |
OMIM:615524 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Mitral stenosis, Ventricul... |
ORPHA:2008 |
Chime Syndrome |
|
Short philtrum, Short palm, Microdontia, Abnormal dental morphology, Abnormality of the kidney, A... |
ORPHA:3474 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up... |
OMIM:225500 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t... |
OMIM:618845 |
Mmep Syndrome |
|
Median cleft lip, Ventricular septal defect, Orofacial cleft, Split foot, Triphalangeal thumb, Mi... |
ORPHA:3434 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Robinow Syndrome |
|
Dental crowding, Orofacial cleft, Atrial septal defect, Webbed penis, Micropenis, Syndactyly, Mul... |
ORPHA:97360 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Short toe, Absent middle phalanx of the 3rd ... |
OMIM:615297 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Ventricular septal defect, Esophageal varix, Renal hypoplasia, Foot oligodactyly, Tru... |
OMIM:616589 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Ventricular septal defect, Hypospadias, Double outlet right ventricle, Cleft palate, ... |
OMIM:220210 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Hand polydactyly, Everted low... |
OMIM:249670 |
Recombinant Chromosome 8 Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Postnatal grow... |
OMIM:179613 |
Distal Deletion 19P |
|
Long toe, Ventricular septal defect, Arachnodactyly, Cleft palate, Short philtrum, Tricuspid valv... |
ORPHA:96129 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Atrial septal defect, Micropenis, Thick upper lip vermilion, Hypospadias, Abnormality of the kidn... |
ORPHA:363444 |
Sandestig-Stefanova Syndrome |
|
Bilateral single transverse palmar creases, Rocker bottom foot, Muscular ventricular septal defec... |
OMIM:618804 |
Trisomy 13 |
|
Median cleft lip, Ventricular septal defect, Anophthalmia, Bilateral single transverse palmar cre... |
ORPHA:3378 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Intestinal malrotation, Short stature, Submucous cleft hard palate, Do... |
ORPHA:3426 |
Nephronophthisis 14 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Atrial septal defect, Pulmonary artery atresia, Pelvic kidney, Single ventricle, Sh... |
OMIM:601186 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Short stature, Abnormal cardiac septum morpho... |
ORPHA:1937 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Brachydactyly, Short stature, Single transverse palmar crease, Muscular ventricular septal defect... |
OMIM:620062 |
Sonoda Syndrome |
|
High axial triradius, Ventricular septal defect, Short stature, Narrow mouth |
OMIM:270460 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Cleft lip, Patent ductus arteriosus, Dilated ca... |
OMIM:619343 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Atrioventricular canal defec... |
OMIM:265380 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
Trisomy 17P |
|
Hypoplasia of penis, Orofacial cleft, High palate, Clinodactyly of the 5th finger, Short stature,... |
ORPHA:261290 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Disproport... |
ORPHA:1354 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Joubert Syndrome 18 |
|
Trident pelvis, Bowing of the long bones, Ventricular septal defect, Postaxial polydactyly, Renal... |
OMIM:614815 |
Down Syndrome |
|
Single transverse palmar crease, Short palm, Hypoplastic iliac wing, Atrial septal defect, Atriov... |
OMIM:190685 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... |
OMIM:608978 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Short stature, Renal hypoplasia/aplasia, Cleft palate, Tooth agenesis,... |
ORPHA:1166 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Thin upper lip vermilion, Prominent fingertip pads, Sandal gap, High, narrow palate, Patent ductu... |
OMIM:612863 |
Microgastria-Limb Reduction Defect Syndrome |
|
Anophthalmia, Abnormal finger morphology, Atrial septal defect, Phocomelia, Microgastria, Multicy... |
ORPHA:2538 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Short stature, Postnatal growth retardation, Short middle phalanx of t... |
OMIM:614326 |
8P23.1 Duplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Long philtr... |
ORPHA:251076 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Ventricular septal defect, Overlapping toe, Partial anomalous pulmonary veno... |
OMIM:617478 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... |
ORPHA:1909 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft upper lip, Cleft palate, Hypoplasti... |
ORPHA:3316 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Atrial septal defect, Toe syndactyly, Ventricular septal defect, Intestinal malrotation, Dextroca... |
OMIM:619657 |
Feingold Syndrome Type 1 |
|
Short middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Vesicoureteral reflux, Ne... |
ORPHA:391641 |
Feingold Syndrome Type 2 |
|
Toe syndactyly, Ventricular septal defect, Jejunal atresia, Short stature, Short thumb, Short mid... |
ORPHA:391646 |
Megabladder, Congenital |
|
Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non... |
OMIM:618719 |
Emanuel Syndrome |
|
Recurrent urinary tract infections, Congenital hip dislocation, Dental crowding, Intestinal malro... |
OMIM:609029 |
Cranioacrofacial Syndrome |
|
Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Hepatic cysts, Situs inversus totalis, Femoral bowing, Aortic valve stenosis,... |
OMIM:615415 |
Cardiac Valvular Dysplasia 1 |
|
Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Pulmonic s... |
OMIM:212093 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Short stature, Esophageal atresia, Pulmonary artery stenosis, Tracheoe... |
OMIM:301030 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Short stature, Camptodactyly of finger, Metatarsus valgus, Radial devi... |
ORPHA:1388 |
Meckel Syndrome, Type 4 |
|
Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, Renal cyst, Clef... |
OMIM:611134 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Ventricular septal defect, Hypospadias, Absent thumb, Short thumb, Patent d... |
OMIM:617516 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Abnormal heart valve morphology, Dental crowding, Abnormality of the dentition, Disproportionate ... |
ORPHA:2868 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventricu... |
OMIM:615996 |
Orofaciodigital Syndrome Xviii |
|
Brachydactyly, Short stature, Urinary incontinence, Accessory oral frenulum, Single transverse pa... |
OMIM:617927 |
Holzgreve Syndrome |
|
Renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft palate, Hand polydactyly, Hypoplastic le... |
OMIM:236110 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cor pulmonale, Cleft palate |
OMIM:261800 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosenceph... |
OMIM:609637 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect |
OMIM:620203 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Bowing of the legs, Anteriorly placed anus, High palate, Vesicoureteral reflu... |
OMIM:617063 |
Tricuspid Atresia |
|
Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarctation of ao... |
ORPHA:1209 |
Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, Short stature, Sandal gap, High, narrow palate, Dilated cardiomyopathy... |
ORPHA:2515 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Short stature, Urinary incontinence, Rocker bottom foot, Tapered finger, Carious teeth, Pericardi... |
OMIM:620070 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Colonic diverticula, Renal insufficiency, Hepatic cysts, Mitral valve prolapse, Polycystic kidney... |
OMIM:173900 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Thin upper lip vermilion, Exaggerated cupid's bow, Intestinal malrotation, Parachute mi... |
OMIM:618316 |
Duane-Radial Ray Syndrome |
|
Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoure... |
OMIM:607323 |
Birk-Aharoni Syndrome |
|
Duplicated collecting system, Muscular ventricular septal defect, Micropenis |
OMIM:620071 |
Emanuel Syndrome |
|
Congenital hip dislocation, Dental crowding, High palate, Atrial septal defect, Micropenis, Bifid... |
ORPHA:96170 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Arachnodactyly, Toe syndac... |
ORPHA:261344 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Postaxial polydactyly, Cleft lip, Comp... |
OMIM:617925 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Ventricular septal defect, Narrow mouth, Atrial septal defect,... |
ORPHA:3469 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Short palm, Dental crowding, Urinary incontinence, Abnormality of the hand, Abnormality of the de... |
ORPHA:476126 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Single transverse palmar crease, Deep philtrum, 2-3 toe cutaneous syndactyly, Tibia... |
OMIM:206920 |
Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... |
ORPHA:185 |
Monosomy 13Q34 |
|
Fetal pyelectasis, Postaxial hand polydactyly, Growth delay, Postaxial foot polydactyly, Pulmonic... |
ORPHA:96168 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Thin upper lip vermilion, Overriding aorta, Single transverse palmar crease, Patent ductus arteri... |
ORPHA:3304 |
Congenital Disorder Of Glycosylation, Type Il |
|
Pericardial effusion, Hip dislocation, Wide mouth, Abnormal cardiac septum morphology, Polycystic... |
OMIM:608776 |
Distal Triplication 15Q |
|
Arachnodactyly, Abnormality of the kidney, Patent ductus arteriosus, Hypoplastic aortic arch, Dil... |
ORPHA:314588 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology |
ORPHA:1208 |
Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Ventricular septal defect, Preaxial hand polydactyly, Duplication of phalanx of hallu... |
OMIM:263630 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Glandular hypospadias, High palate, Atrial septal defect, Finger syndactyly, ... |
ORPHA:2473 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Esophageal atresia, Trac... |
OMIM:314390 |
Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Atrial septal defect, Short stat... |
ORPHA:261330 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Short femur, Short stature, Renal hypoplasia/aplasia, Long penis, Cleft... |
ORPHA:1988 |
Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Fanconi Anemia, Complementation Group O |
|
Short stature, Proximal placement of thumb, Absent thumb, Short thumb, Rectal atresia, Hypoplasia... |
OMIM:613390 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgene... |
ORPHA:3033 |
Hamamy Syndrome |
|
Long toe, Thin upper lip vermilion, Syndactyly, Down-sloping shoulders, Tapered finger, Complete ... |
OMIM:611174 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, San... |
ORPHA:477817 |
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly |
ORPHA:2523 |
8Q24.3 Microdeletion Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micromelia, Bilateral renal hypoplas... |
ORPHA:508488 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Joubert Syndrome 15 |
|
Retinal dystrophy, Preaxial polydactyly, Exencephaly, Nephronophthisis, Micropenis, Retinopathy |
OMIM:614464 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Short stature, Distal urethral duplication, Renal hypoplasia/apl... |
ORPHA:2549 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Short stature, Aplasia/Hypoplasia of the fibula, Growth delay, Short foot, Aplasia... |
ORPHA:52056 |
Microhydranencephaly, X-Linked |
|
Holoprosencephaly |
OMIM:306990 |
Biemond Syndrome Type 2 |
|
Short stature, Hypospadias, Hydrocephalus, Preaxial polydactyly, Delayed puberty, Microphthalmia |
ORPHA:141333 |
Phenobarbital Embryopathy |
|
Hypospadias, Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Abnormal mitral valve morpholog... |
ORPHA:1919 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Micromelia, Renal cyst, Fused teeth, High palate, Microdontia, Syndactyly... |
OMIM:614091 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Short palm, Clinodactyly of the 5th finger, Atrioventricular canal defect,... |
ORPHA:508498 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Bifid distal phalanx of the thumb, Esophageal atresia, Clinodactyly, A... |
ORPHA:2209 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micropenis, Short stature, Humeroradial synostos... |
OMIM:134780 |
Tetralogy Of Fallot |
|
Thin vermilion border, Clinodactyly of the 5th finger, Intrauterine growth retardation, Tetralogy... |
ORPHA:3303 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... |
OMIM:619371 |
Odontochondrodysplasia 1 |
|
Micromelia, Metaphyseal widening, Nephronophthisis, Short phalanx of finger, Genu varum, Short me... |
OMIM:184260 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Esophageal atresia, Pa... |
ORPHA:77298 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Orofaciodigital Syndrome Xvii |
|
Median cleft lip, Short stature, Short middle phalanx of the 2nd finger, High, narrow palate, Cen... |
OMIM:617926 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Ventricular septal defect, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, Patent ductus arteriosus, ... |
ORPHA:2712 |
Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary ... |
OMIM:270100 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Clinodactyly, Pie... |
OMIM:619980 |
Faciocardiorenal Syndrome |
|
Narrow mouth, Cleft palate, Horseshoe kidney, Hypodontia, Tricuspid valve prolapse, Endocardial f... |
ORPHA:1973 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Atrial septal defect, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept... |
OMIM:600001 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs inversus totalis, St... |
OMIM:613095 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Vesicoureteral reflux, Pulmonary artery atresia, Micropenis, Hypospadias, Short stature, Postaxia... |
OMIM:301056 |
14Q11.2 Microdeletion Syndrome |
|
Toe clinodactyly, Toe syndactyly, Exaggerated cupid's bow, Ventricular septal defect, Deep philtr... |
ORPHA:261120 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Metaphyseal widening, Abnormal heart morphology, Short long bone, Na... |
OMIM:263210 |
White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:277740 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polydactyly, Transposition ... |
ORPHA:261243 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th... |
ORPHA:93323 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Short stature, Thick lower lip vermilion, Ren... |
OMIM:612946 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
Hydrolethalus Syndrome 1 |
|
Median cleft lip, Hypospadias, Ventricular septal defect, Complete atrioventricular canal defect,... |
OMIM:236680 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Prominent fingertip pads, Overlapping fingers, Ventricular septal defec... |
OMIM:618494 |
Houge-Janssens Syndrome 3 |
|
Single transverse palmar crease, Muscular ventricular septal defect, High palate, Short philtrum,... |
OMIM:618354 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Short stature, Sandal gap, Long philtrum, Atrial septal defect, Micropht... |
OMIM:300887 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Anophthalmia, Congenital hip dislocation, Cryptorchidism, Orbital encephalocele, Microp... |
OMIM:164180 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Preaxia... |
OMIM:263520 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Single transverse palmar crease, Cubitus valgus, Metatarsus adductus, Cleft palate, Abnormal hear... |
OMIM:214110 |
Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Leopard Syndrome 1 |
|
Scapular winging, Hypospadias, Short stature, Unilateral renal agenesis, Limited elbow movement, ... |
OMIM:151100 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Ventricular septal defect, Polysyndactyly of hallux, Aganglionic megac... |
OMIM:235750 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Short stature, Renal agenesis, Hamartoma of tongue, Renal hypo... |
ORPHA:2754 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydranencephaly, Hydrocephalus, Holoprosencephaly |
OMIM:617967 |
Nemaline Myopathy 9 |
|
Ventricular septal defect, High palate, Cleft palate |
OMIM:615731 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Short thumb, Patent ductus a... |
OMIM:612561 |
Mental retardation, x-linked, syndromic, Turner type |
|
Holoprosencephaly |
OMIM:300706 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Ventricular septal defect, Polydactyly, Microphthalmia, Nephroblastoma, Smooth philtrum |
OMIM:602501 |
Czeizel-Losonci Syndrome |
|
Single transverse palmar crease, Spina bifida occulta, Prominent antitragus, Low-set, posteriorly... |
ORPHA:2437 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Overlapping toe, Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, ... |
OMIM:614262 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Arachnodactyly, Minimal chan... |
OMIM:616730 |
Mosaic Trisomy 20 |
|
Ventricular septal defect, Abnormality of the kidney, Down-sloping shoulders, Cleft lip, Dysplast... |
ORPHA:1724 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
Cat Eye Syndrome |
|
Vesicoureteral reflux, Atrial septal defect, Short stature, Patent ductus arteriosus, Total anoma... |
OMIM:115470 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Mosaic Trisomy 1 |
|
Single transverse palmar crease, Orofacial cleft, Renal cyst, Finger clinodactyly, Pulmonary arte... |
ORPHA:1692 |
Kapur-Toriello Syndrome |
|
Overlapping fingers, Ventricular septal defect, Intestinal malrotation, Single transverse palmar ... |
OMIM:244300 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect, Tongue fasciculations |
OMIM:253300 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Dextrocardia, Polyuria, Mesoaxial hand polydactyl... |
OMIM:615994 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Abnormal ao... |
ORPHA:1596 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Syndactyly, Short stature, Hamartoma of tongue, Cleft upper lip, S... |
OMIM:311200 |
Holt-Oram Syndrome |
|
Finger syndactyly, Ventricular septal defect, Down-sloping shoulders, Absent thumb, Abnormality o... |
ORPHA:392 |
Temple-Baraitser Syndrome |
|
Broad hallux, Proximal placement of thumb, Adducted thumb, Downturned corners of mouth, Wide mout... |
OMIM:611816 |
3C Syndrome |
|
Hypoplasia of penis, High, narrow palate, Orofacial cleft, Abnormal tricuspid valve morphology, A... |
ORPHA:7 |
Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... |
OMIM:147750 |
Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Intestinal malrotat... |
ORPHA:2970 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect, Single transverse palmar crease, Patent ductus arteriosus, Deep philtr... |
OMIM:619717 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short stature, Abnormal metacarpal morphology, Abnormal pelvic girdle bone morphology, Abnormal c... |
ORPHA:2370 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Postaxial hand polydactyly, Abnormal localization of kidney, Abnormal ... |
ORPHA:83473 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, S... |
OMIM:613091 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Single transverse palmar crease, High palate, Short stature, Arachno... |
OMIM:618348 |
Sotos Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormality of the kidney, High, narrow palate, ... |
OMIM:117550 |
Cardiac-Urogenital Syndrome |
|
Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hypos... |
OMIM:618280 |
Ellis Van Creveld Syndrome |
|
Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Atrial septal defect, M... |
ORPHA:289 |
Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Synostosis of carpal bones, Anodonti... |
ORPHA:90652 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Santos Syndrome |
|
Syndactyly, Short stature, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu... |
OMIM:613005 |
Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia... |
OMIM:619879 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Short stature, Single transverse palmar crease, Patent ductus arterios... |
OMIM:619189 |
Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Hydrocephalus, Retinopathy |
ORPHA:26 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Thin upper lip vermilion, Ventricular septal d... |
OMIM:220500 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Short stature, Renal agenesis, Unilateral renal agenesis, Esophageal atresia, Muscular ventricula... |
OMIM:619227 |
3P25.3 Microdeletion Syndrome |
|
Proximal placement of thumb, High, narrow palate, Deep philtrum, Downturned corners of mouth, Sho... |
ORPHA:435638 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Congenital hip dislocation, Patent ductus arteriosus, Deviation of finger, Abnormal cardiac septu... |
ORPHA:2412 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Abnormal hair morphology, Preaxial polydactyly, ... |
ORPHA:64754 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Growth delay, Uraciluria, Microphthalmia, Lethargy |
OMIM:274270 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, 2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Atrial septal defect, Contr... |
OMIM:300166 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Clubbing, Atrial septal defect, Patent foramen ... |
ORPHA:439 |
Pulmonic Stenosis And Deafness |
|
Ventricular hypertrophy, Pulmonic stenosis |
OMIM:178651 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... |
OMIM:616898 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Hypospadias, Short stature, Coronal hypospadias, Short toe, Cleft palate, Abnorma... |
ORPHA:921 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate, Atrial septal defect,... |
ORPHA:261272 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnormality of the palmar crea... |
OMIM:618652 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Hypospadias, High palate, Transposition of the great arteries, Atrial ... |
ORPHA:1913 |
Yuan-Harel-Lupski Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Sandal gap, Aortic ro... |
OMIM:616652 |
Rhizomelic Syndrome, Urbach Type |
|
Brachydactyly, Short stature, Rhizomelia, Abnormality of the humerus, Preaxial hand polydactyly, ... |
ORPHA:3098 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Ventricular septal defect, Epiphyseal stippling |
OMIM:614876 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Left... |
OMIM:605376 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Ventricular septal defect, Rhizomelia, Proximal placement of thumb, Dow... |
ORPHA:93267 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Tapered finger, Short 3rd toe, Short thumb, Muscular ventricular septal defect, Split hand, Intri... |
OMIM:618569 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Abnormality of the ear, Neural tube defect, Microphthalmia, Macrotia |
OMIM:600776 |
Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ... |
OMIM:618300 |
Gillespie Syndrome |
|
Hypoplasia of the iris, Truncus arteriosus, Aniridia |
OMIM:206700 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Polydactyly, Renal cyst |
OMIM:615987 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Thick lower lip vermilion, Widely-spaced maxillary central incisors, S... |
OMIM:608227 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Dextrocardia, Short stature, Renal hypopl... |
ORPHA:2863 |
Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Tetralogy of Fallot |
OMIM:187500 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Anophthalmia, Micromelia, Cryptorchidism, Postaxial hand polyd... |
ORPHA:2189 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Frontonasal Dysplasia 1 |
|
Median cleft lip, Postaxial hand polydactyly, Widely-spaced maxillary central incisors, Pectoral ... |
OMIM:136760 |
Frank-Ter Haar Syndrome |
|
Abnormally large globe, Secundum atrial septal defect, High palate, Short palm, Atrial septal def... |
OMIM:249420 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal hand morphology, Osteolysis involving ... |
ORPHA:371428 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Thin upper lip vermilion, Short stature, Overlapping toe, Postaxial polydactyly, Tapered finger, ... |
OMIM:613792 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... |
OMIM:617610 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Paten... |
ORPHA:1120 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Hypospadias, Genu valgum, Anal atresia, Tetr... |
ORPHA:1381 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Short stature, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, P... |
OMIM:615993 |
Congenital Tricuspid Valve Dysplasia |
|
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... |
ORPHA:555874 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Short stature, Patent ductus ar... |
OMIM:618330 |
Fetal Minoxidil Syndrome |
|
Clinodactyly of the 5th finger, Ventricular septal defect |
ORPHA:1918 |
Meckel Syndrome, Type 1 |
|
Lobulated tongue, Syndactyly, Cleft upper lip, Patent ductus arteriosus, Postaxial foot polydacty... |
OMIM:249000 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Renal cyst, Anteriorly placed anus, Micropenis, Distal shortening of limbs, Synda... |
OMIM:146510 |
Vater/Vacterl Association |
|
Ectopic kidney, Preaxial polydactyly, Patent urachus, Triphalangeal thumb, Vesicoureteral reflux,... |
OMIM:192350 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, High palate, Clinodactyly of the 5th finger, A... |
OMIM:201000 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypopl... |
ORPHA:94066 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Proteinuria, Abnormal palmar dermatoglyphics, Postnatal growth retardation,... |
ORPHA:2728 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Short stature, Postaxial polydactyly, Preaxial polydactyly... |
OMIM:615503 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Short stature, B... |
OMIM:600987 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Thin upper lip vermilion, Ventricular septal defect, Short hallux, Long fingers, Clinodactyly of ... |
OMIM:620393 |
Walker-Warburg Syndrome |
|
Retinal detachment, Hypoplasia of penis, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia... |
ORPHA:899 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Joubert Syndrome 39 |
|
Postaxial polydactyly, Hypoplastic left heart, Joint contracture of the 5th finger, Polycystic ki... |
OMIM:619562 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hamartoma of tongue, Accessory oral frenulum, Micromelia, Aplastic clavicle, Postaxial polydactyl... |
OMIM:616546 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Epiphyseal stippling, Polycystic kidney dysplasia, Vascular dilatation |
OMIM:614859 |
Hartsfield Syndrome |
|
Encephalocele, Microphthalmia, Lobar holoprosencephaly |
ORPHA:2117 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Optic atrophy, Dandy-Walker malformation |
ORPHA:1538 |
Congenital Rubella Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Aplasia/Hypoplasia of the iri... |
ORPHA:290 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Chromosome 18Q Deletion Syndrome |
|
Proximal placement of thumb, Downturned corners of mouth, Short philtrum, Atrial septal defect, M... |
OMIM:601808 |
Teebi-Shaltout Syndrome |
|
Single transverse palmar crease, High, narrow palate, Oligodontia, Prominent palatine ridges, Cau... |
OMIM:272950 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Narrow mouth, Vesicoureteral reflux, Short foot, Everted lower lip ver... |
ORPHA:228399 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... |
OMIM:210710 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Corpus cavernosum hypoplasia, Tetralogy of Fallot, Microphallus, Perineal hypospadias |
OMIM:615542 |
Joubert Syndrome 14 |
|
Tented upper lip vermilion, Ventricular septal defect, Postaxial polydactyly, Cleft palate, Renal... |
OMIM:614424 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Optic nerve hypoplasia, Short stature, Absent thumb, Short thumb, Shor... |
OMIM:609053 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Long toe, Tapered toe, Long-chain dic... |
OMIM:608836 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Intestinal malrotation, Hepatic cysts, Situs inversus totalis, Pancreatic cy... |
OMIM:208540 |
Meckel Syndrome, Type 11 |
|
Polydactyly, Polycystic kidney dysplasia |
OMIM:615397 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... |
ORPHA:1880 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Hypospadias, Short stature, Proximal placement of thumb, Tapered finger, Pa... |
ORPHA:251071 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Cleft palate, Talipes equinovarus, Microphthalmia, Intrauterine growth retard... |
OMIM:616570 |
Floating-Harbor Syndrome |
|
Renal cyst, Nephrocalcinosis, Oligodontia, Humeral pseudarthrosis, Short philtrum, Atrial septal ... |
ORPHA:2044 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Intrauterine growth retardation, Cleft palate, Abnormal heart morphology |
OMIM:600252 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Muscular ... |
OMIM:115197 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Dilated Cardiomyopathy With Ataxia |
|
Hypoplasia of penis, Muscular ventricular septal defect, Dilated cardiomyopathy, Perineal hypospa... |
ORPHA:66634 |
Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Patent ductus arteriosus, Dental malocclusi... |
OMIM:606232 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Rh... |
OMIM:616300 |
Alg12-Cdg |
|
Thin upper lip vermilion, Overlapping fingers, Hypospadias, Intestinal malrotation, Sandal gap, U... |
ORPHA:79324 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short stature, Short metatarsal, Atrial septal defect, Short 4th metacarpal, Type E brachydactyly |
OMIM:113301 |
Filippi Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Postnatal growth retardation, 2-4 toe... |
OMIM:272440 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Polydactyly, Attenuation of retinal ... |
OMIM:615990 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Optic pit, Anophthalmia, Chorioretinal coloboma |
OMIM:616428 |
Distal Deletion 12Q |
|
Single transverse palmar crease, Ectopic kidney, High, narrow palate, Aplasia/Hypoplasia of the m... |
ORPHA:96149 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Thick lower lip vermi... |
OMIM:619103 |
Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Ventricular septal defect, Hypospadias, Ren... |
ORPHA:139466 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Non-midline cleft lip, Postaxial hand polydactyly, Cle... |
ORPHA:2075 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Macular dystrophy, Micropenis, Rod-cone dystrophy, Brachydactyly |
OMIM:615983 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Preaxial hand polydactyly, P... |
OMIM:175700 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect, Unilateral renal agenesis, Abnormally large globe, Increased overbite,... |
OMIM:618504 |
Charge Syndrome |
|
Anophthalmia, Abnormal palmar dermatoglyphics, Secundum atrial septal defect, Hand monodactyly, A... |
OMIM:214800 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Micromelia, Finger clinodactyly, High palate, Endocardial fibroelastosis, At... |
ORPHA:99776 |
Syndromic Diarrhea |
|
Villous atrophy, Bicuspid aortic valve, Gastritis, Ventricular septal defect, Short stature, Pate... |
ORPHA:84064 |
Burn-Mckeown Syndrome |
|
Ventricular septal defect, Short stature, Unilateral renal agenesis, Cleft upper lip, Renal hypop... |
OMIM:608572 |
Weill-Marchesani Syndrome |
|
Short stature, Ventricular septal defect, Short thumb, Pulmonic stenosis, Aortic valve stenosis, ... |
ORPHA:3449 |
22Q11.2 Deletion Syndrome |
|
Abnormal aortic arch morphology, Short philtrum, Atrial septal defect, Vesicoureteral reflux, Hyp... |
ORPHA:567 |
Noonan Syndrome 11 |
|
Short stature, Thick vermilion border, Pulmonic stenosis, Palmoplantar cutis laxa, Atrial septal ... |
OMIM:618499 |
Renpenning Syndrome |
|
Severe short stature, Macrodontia, Hypospadias, Abnormal thumb morphology, High, narrow palate, C... |
ORPHA:3242 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Single transverse palmar crease, Widely spaced teeth, High palate, Atrial ... |
OMIM:612474 |
Microphthalmia With Limb Anomalies |
|
Venous insufficiency, Tibial bowing, Camptodactyly of 2nd-5th fingers, High palate, Foot oligodac... |
ORPHA:1106 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Prominent fingertip pads, Tapered finger, High, narrow palate, 2-3 toe syndactyly,... |
ORPHA:485405 |
Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Hypospadias, Renal dysplasia, Postaxial polydactyly |
OMIM:615985 |
Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Hypospadias, Short stature, Patent ductus arte... |
OMIM:102500 |
Diabetic Embryopathy |
|
Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Cleft palate, Abnormal... |
ORPHA:1926 |
2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... |
ORPHA:1617 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Optic atrophy, Cardiomyopathy, Ethylmalonic aciduria, Increased level of methylsuccinic acid in u... |
ORPHA:26792 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrau... |
OMIM:620135 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the distal pha... |
OMIM:113000 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Short lingual frenulum, Short stature, Renal agenesis, Anomalous origin of left coronary artery f... |
ORPHA:2326 |
Rhizomelic Syndrome |
|
Rhizomelia, Short stature, Bifid distal phalanx of the thumb, Hip dislocation, Pulmonic stenosis,... |
OMIM:268250 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, High palate, Clinodactyly of the 5t... |
ORPHA:3103 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Clinodactyly of the 5th finger, Intrauterine growth retardation, Cleft palate, Abnormal heart mor... |
ORPHA:231147 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Abnormality of the kidney, Abnormality of the dentition, Renal cyst, Polydactyly, Bra... |
OMIM:615982 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Intrauterine growth ... |
OMIM:616276 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Short stature, Arachnodactyly, Micromelia, Sandal gap, Abnormality of the ureter, Genu valgum, Hi... |
ORPHA:1035 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Esophageal atresia, Atrial septal defect, Microphthalmia, Broad thumb, Smooth ... |
OMIM:614526 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Hypospadias, Short stature, Abnormal cardiac septum morphology, Short middle phalanx of finger, T... |
OMIM:612626 |
Vissers-Bodmer Syndrome |
|
Holoprosencephaly |
OMIM:619033 |
Bresek Syndrome |
|
Alopecia, Aganglionic megacolon, Optic nerve hypoplasia, Hearing impairment, Cryptorchidism, Post... |
ORPHA:85284 |
Faciocardiomelic Syndrome |
|
Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypoplastic pelvis, Long philtru... |
OMIM:612731 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Lens coloboma, Renal hypoplasia, 2-3 toe syndactyly, Small thenar eminence, Joint con... |
OMIM:618914 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, Unilateral renal agenesis, 2-3 toe syndactyly, Growth delay, High pala... |
ORPHA:3306 |
Lambert Syndrome |
|
Wide mouth, Intrauterine growth retardation, Ventricular septal defect, Hypospadias |
ORPHA:1296 |
Stevenson-Carey Syndrome |
|
Recurrent urinary tract infections, Pierre-Robin sequence, Downturned corners of mouth, Hip dyspl... |
OMIM:611961 |
Suleiman-El-Hattab Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Single transverse palmar crease, Thick lower... |
OMIM:618950 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short stature, Hand polydactyly, Patent ductus arteriosus, ... |
ORPHA:250989 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Short stature, High, narrow palate, Cleft palate, Narrow palate, High ... |
OMIM:615102 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve, Short stature, Bilateral microphthalmos, Unilateral microphthalmos, Horses... |
OMIM:619318 |
Polyvalvular Heart Disease Syndrome |
|
Dental crowding, Abnormal heart valve morphology, Short stature, Mitral valve prolapse, High pala... |
ORPHA:228410 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Cleft lip, Cleft palate, Abdominal situs inversus, Pulmonic stenosis, ... |
OMIM:619123 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Brachydactyly, Ventricular septal defect, Abnormality of the philtrum, Short stature, Renal hypop... |
ORPHA:1770 |
Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Ventricular septal defect, Short stature, Tarsal synostosis, Muscular ventricu... |
OMIM:157800 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Premature loss of primary teeth, 2-3 toe cutaneous syndactyly, Widely spaced teeth, Microdontia, ... |
OMIM:617364 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Retinal dystrophy, Proximal placement of thumb, Cryptorchidism, ... |
ORPHA:139471 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Low-set, posteriorly rotated ears, Retinal dystrophy, Aganglionic megacolon, Highl... |
ORPHA:220493 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary artery course, P... |
ORPHA:488618 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Postaxial hand polydactyly, Dilated cardiomyopathy, Postaxial foot polydac... |
OMIM:615981 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Short lingual frenulum, Renal agenesis, Unilateral renal agenesis, Ebstein anomaly of the tricusp... |
OMIM:608980 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Dysplastic pulmonary valve, Bifid uvula, Cleft palate, Cleft upper lip |
OMIM:300958 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Lambotte Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Preaxial foot polydactyly, Narrow mouth |
OMIM:245552 |
Craniofacial Conodysplasia |
|
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand |
ORPHA:85168 |
Kabuki Syndrome 2 |
|
Natal tooth, Prominent fingertip pads, Short stature, Postnatal growth retardation, Lower lip pit... |
OMIM:300867 |
1Q21.1 Microduplication Syndrome |
|
Hypospadias, Hip dislocation, Hip dysplasia, Talipes equinovarus, Tetralogy of Fallot |
ORPHA:250994 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/hypoplasia involving bones of the ... |
ORPHA:40366 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Short stature, Pulmonary artery stenosis, Postaxial hand polydactyly, ... |
ORPHA:75389 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus, Abnormality of the ear |
OMIM:600257 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus,... |
ORPHA:2328 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormal eyelash morphology, Hydrocephalus, Sparse body hair, Alopecia univers... |
ORPHA:1008 |
Fryns Syndrome |
|
Tented upper lip vermilion, Abnormal aortic arch morphology, High palate, Vesicoureteral reflux, ... |
ORPHA:2059 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Postaxial polydactyl... |
ORPHA:404440 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Marden-Walker Syndrome |
|
Hypospadias, Dextrocardia, Arachnodactyly, Postnatal growth retardation, High, narrow palate, Pyl... |
OMIM:248700 |
Cerebrooculonasal Syndrome |
|
Hypoplasia of penis, Anophthalmia, Postaxial hand polydactyly, High palate, Widely spaced teeth, ... |
ORPHA:66625 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Microtia, third degree, Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocep... |
ORPHA:3412 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Ventricular septal defect, Ham... |
OMIM:174300 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Retinal dysplasia, Microphthalmia, Ventriculomegaly |
ORPHA:324416 |
Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy |
OMIM:601086 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Abnormally large globe, Secundum atrial septal defect, Rhizomelic arm shortening, Abnormal fibula... |
ORPHA:96190 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, Displacement o... |
ORPHA:1329 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Coffin-Siris Syndrome 5 |
|
Thin upper lip vermilion, Short stature, Arachnodactyly, Sandal gap, Thick lower lip vermilion, W... |
OMIM:616938 |
Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Short stature, Cleft lip, Cleft palate, Coarctation of aorta, Submucous... |
OMIM:301022 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Intestinal malrotation,... |
OMIM:617866 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis, Absent central microtubular pair morphology of respiratory motile cilia, ... |
OMIM:620032 |
Mucolipidosis Type Iii |
|
Abnormal heart valve morphology, Short stature, Cleft palate, Abnormal aortic valve morphology, A... |
ORPHA:577 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Atri... |
OMIM:619534 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Optic atrophy, Small hand, Low-set ears |
OMIM:300884 |
Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Recurrent otitis media, Dextrocardia, Dynein arm defect of respiratory mo... |
OMIM:614679 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect, Exaggerated cupid's bow, Rocker bottom foot, Wide mouth, Delayed erupt... |
OMIM:618506 |
Tetrasomy 15Q26 |
|
Arachnodactyly, Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, High palate,... |
OMIM:614846 |
Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Short thumb... |
OMIM:618821 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Urethral stenosis, Cleft palate, Growth delay, Hypoplastic left heart,... |
ORPHA:1727 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Overlapping toe, Patent ductus arteriosus, Downturned corners of mouth... |
OMIM:618974 |
Vitamin K Antagonist Embryofetopathy |
|
Hearing impairment, Myelomeningocele, Hydrocephalus, Optic atrophy, Epiphyseal stippling, Microti... |
ORPHA:1914 |
Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Ventricular septal defect, Secundum atrial septal defect, Short thumb,... |
OMIM:612562 |
Primary Ciliary Dyskinesia |
|
Abnormal atrial arrangement, Atrial situs ambiguous, Intestinal malrotation, Situs inversus total... |
ORPHA:244 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Non-midline cleft lip, Cleft palate, Aplasia/Hypoplasia of the radius,... |
ORPHA:2476 |
Roifman Syndrome |
|
Thin upper lip vermilion, Noncompaction cardiomyopathy, Short metacarpal, Ventricular septal defe... |
OMIM:616651 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect, Short stature, Fifth finger distal phalanx clinodactyly, Postnatal gro... |
ORPHA:3369 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Thin upper lip vermilion, Short stature, Interphalangeal joint contracture of finger, Preaxial ha... |
OMIM:606242 |
Craniotelencephalic Dysplasia |
|
Low-set, posteriorly rotated ears, Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, O... |
ORPHA:1528 |
Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Bifid uvula, Cleft soft palate, Accessory oral frenulum, Supernumerary tooth... |
ORPHA:2919 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Ventricular septal defect, Hypospadias, Single transverse palmar crease, Metatarsus adductus, Cub... |
OMIM:614866 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Mitral valve prolapse, High p... |
OMIM:609942 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Clinodactyly, Double outlet right ventricle, Supravalva... |
OMIM:618164 |
Ciliary Dyskinesia, Primary, 12 |
|
Situs inversus totalis, Short stature, Chronic otitis media, Abnormal central microtubular pair m... |
OMIM:612650 |
Meckel Syndrome |
|
Encephalocele, Ureteral duplication, Bowing of the long bones, Anophthalmia, Abnormal chorioretin... |
ORPHA:564 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Short stature, Patent ductus arteriosus, Renal tubular dysfunction, Growth delay, Atrial septal d... |
OMIM:614886 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hyperphosphaturia, Short stature, Coxa valga, Carious teeth, Hypoplasia of teeth, Genu valgum, Pu... |
OMIM:613312 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, High, narrow palate, Red-brown urine, R... |
ORPHA:228308 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Sh... |
ORPHA:1507 |
Lethal Faciocardiomelic Dysplasia |
|
Hypoplasia of the ulna, Sandal gap, Radial club hand, Patent ductus arteriosus, Hypoplasia of the... |
ORPHA:1972 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx, Dislocated radial head, Syndactyly... |
ORPHA:2839 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Short stature, Macular atrophy, Optic atrophy, Talipes equinovarus, Microphtha... |
OMIM:616171 |
Char Syndrome |
|
Mesoaxial foot polydactyly, Ventricular septal defect, Toe syndactyly, Mesoaxial hand polydactyly... |
ORPHA:46627 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Short stature, Single transverse palmar crease, Narrow mouth, Patent ductus arteriosus, Cleft pal... |
OMIM:615502 |
Distal Deletion 13Q |
|
Encephalocele, Aplasia/Hypoplasia affecting the eye, Anencephaly, Holoprosencephaly |
ORPHA:1590 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Intestinal malrota... |
ORPHA:2255 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Abnormality of the kidney, Tibial torsion, Aplasia/hypoplasia of the humerus, ... |
ORPHA:3320 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Thin upper lip vermilion, Dental crowding, Short stature, Sandal gap, Short toe, Pierre-Robin seq... |
OMIM:617877 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Short metacarpal, Brachydactyly, Short stature, Ventricular septal defect, Metaphy... |
ORPHA:166035 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Rod-cone dystrophy, Polydactyly |
OMIM:615991 |
Fetal Encasement Syndrome |
|
Upper limb undergrowth, Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydroguanosine level, Low... |
OMIM:613630 |
Warsaw Breakage Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Postnatal growth retardation, 2-3 toe... |
OMIM:613398 |
Polydactyly, Preaxial I |
|
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... |
OMIM:174400 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Short humerus, Ureteral stenosis, Hypoplastic scapulae, Coxa valga, Fl... |
OMIM:309350 |
Cat-Eye Syndrome |
|
Short stature, Renal hypoplasia/aplasia, Abnormal localization of kidney, Hip dysplasia, Micropht... |
ORPHA:195 |
Cenani-Lenz Syndactyly Syndrome |
|
Premature loss of permanent teeth, Syndactyly, Hypoplasia of the ulna, Renal agenesis, Broad hall... |
OMIM:212780 |
Anophthalmia Plus Syndrome |
|
Low-set, posteriorly rotated ears, Anophthalmia, Spina bifida, Aplasia/Hypoplasia of the earlobes... |
ORPHA:1104 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Cleft palate, Abnormal heart mor... |
ORPHA:2237 |
Bardet-Biedl Syndrome 11 |
|
Retinopathy, Polydactyly |
OMIM:615988 |
Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Abnormal respiratory motile cilium morphology, Chronic otitis media |
OMIM:612518 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Ventricular septal defect, Postaxial polydactyly, Tubular luminal dilatation... |
OMIM:219730 |
Even-Plus Syndrome |
|
Epiphyseal dysplasia, Recurrent urinary tract infections, Severe short stature, Vesicoureteral re... |
OMIM:616854 |
Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Atrial septal defect, Short stature, Non-midline cleft lip, Cleft palat... |
ORPHA:1915 |
Desbuquois Syndrome |
|
Severe short stature, Ventricular septal defect, Camptodactyly of finger, Coxa valga, Elbow dislo... |
ORPHA:1425 |
Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Bicuspid aortic valve, Short stature, Cleft upper lip, Postnatal growth... |
OMIM:243310 |
Weill-Marchesani Syndrome 3 |
|
Short stature, Microspherophakia, Pulmonic stenosis, Aortic valve stenosis, Brachydactyly |
OMIM:614819 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect, Short stature, High palate, Broad alveolar ridges, Clinodactyly of the... |
OMIM:314320 |
Monosomy 18Q |
|
Abnormal palmar dermatoglyphics, Secundum atrial septal defect, Downturned corners of mouth, High... |
ORPHA:1600 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morph... |
ORPHA:980 |
Grange Syndrome |
|
Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Short palm |
ORPHA:79094 |
Ciliary Dyskinesia, Primary, 14 |
|
Absent inner dynein arms, Situs inversus totalis, Abnormal axonemal organization of respiratory m... |
OMIM:613807 |
Warburg Micro Syndrome 1 |
|
Enlarged sylvian cistern, Overlapping toe, Short stature, Cryptorchidism, Optic atrophy, Low-set ... |
OMIM:600118 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Retinal dystrophy, Short stature, Cardiac arrest, Ventricular septal defect, Congestive heart fai... |
ORPHA:49827 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... |
OMIM:619902 |
Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna, Finger... |
ORPHA:959 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Hydrocephalus, Retinal dysplasia, Ventriculomegaly |
OMIM:614830 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Micromelia, Hypoplastic left heart, Disproportion... |
ORPHA:2772 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Tented upper lip vermilion, Ventricular septal defect, Rocker bottom foot, Pro... |
OMIM:619762 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis, Pulmonic stenosis |
OMIM:264140 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Absent thumb, Submucous cleft hard palate, Pulmonic stenosis, Atrial septal defect, Bifid uvula |
OMIM:619239 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Arachnodactyly, Short stature, Cleft palate, Narrow mouth, Atrial septal defect |
ORPHA:93946 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Short stature, Rocker bottom foot, Camptodactyly of finger, Bilateral microphthalmos, Flared meta... |
OMIM:610758 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Micrope... |
OMIM:200990 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Hypospadias, Overlapping toe, Deep philtrum, Patent ductus arteriosus,... |
ORPHA:163956 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Ventriculomegaly, Remnants of the hyaloid vascular system, Optic nerve... |
OMIM:603671 |
Ritscher-Schinzel Syndrome 3 |
|
Thin upper lip vermilion, Hypoplasia of the ulna, Postnatal growth retardation, Ulnar bowing, Sho... |
OMIM:619135 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Postnatal growth retardation, Acromicria, Small hand, Abnormal heart morphology, Downturned corne... |
ORPHA:254525 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Scapular winging, Glutaric aciduria, Lacticaciduria, Abnormal heart morphology, Cardiomyopathy, 3... |
ORPHA:26791 |
Cohen Syndrome |
|
High, narrow palate, Short philtrum, Clinodactyly of the 5th finger, Finger syndactyly, Short sta... |
ORPHA:193 |
Marden-Walker Syndrome |
|
Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney dysplasia, Hypospadias, Ab... |
ORPHA:2461 |
Tarp Syndrome |
|
Single transverse palmar crease, Glossoptosis, High palate, Atrial septal defect, Deep palmar cre... |
OMIM:311900 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Clinodactyly, Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Clinodactyly of t... |
OMIM:280000 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Ventriculomegaly, Anophthalmia, Sparse eyelashes, Optic nerve hypoplasia, Postaxia... |
OMIM:605627 |
Ritscher-Schinzel Syndrome 2 |
|
Prominent fingertip pads, Syndactyly, Ventricular septal defect, Intestinal malrotation, Broad ha... |
OMIM:300963 |
Pineocytoma |
|
Hearing abnormality, Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Hearing impairment, Cardiomegaly, Hydrocephalus, Microphthal... |
ORPHA:858 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Intestinal polyposis, Curved middle phalanx of the 4th toe, Arachnodactyly, Patent ductus arterio... |
ORPHA:276413 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Ketonuria, Single transverse palmar crease, Renal hypoplasia, High palate, Microphthalmia, Hypert... |
OMIM:619053 |
Orofaciodigital Syndrome Vi |
|
Tibial bowing, Lobulated tongue, High palate, Short stature, Hamartoma of tongue, Accessory oral ... |
OMIM:277170 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val... |
ORPHA:3405 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Situs inversus totalis, Pancreatic cysts... |
OMIM:267010 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Thin upper lip vermilion, Abnormality of the hand, Downturned corners of mouth, Abnormality of th... |
ORPHA:521308 |
Meckel Syndrome, Type 2 |
|
Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Renal cyst, Cleft p... |
OMIM:603194 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, Camptodactyly of finger, High, narrow palate, Ulnar deviation of finger, Talipes eq... |
ORPHA:1101 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Paten... |
OMIM:301043 |
Ciliary Dyskinesia, Primary, 38 |
|
Dextrocardia, Situs inversus totalis, Absent inner and outer dynein arms, Conductive hearing impa... |
OMIM:618063 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Sparse eyebrow, Sparse scalp hair, Abnormal respiratory motile cilium morphology, Nail dysplasia |
OMIM:225050 |
Cardiomyopathy, Dilated, 2E |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve |
OMIM:619492 |
Pierpont Syndrome |
|
Smooth philtrum, Short stature, Short toe, Broad palm, Micropenis, Prominent median palatal raphe... |
OMIM:602342 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Short stature, Growth delay, Atrial septal defect, Intrauterine growth ret... |
OMIM:617744 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Multicystic kidney dysplasia, Postaxial hand polydactyly, Triphalangea... |
ORPHA:2091 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus, Apathy |
ORPHA:99966 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Ventricular septal defect, Aplasi... |
ORPHA:2256 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Eosinophilic infiltration of the esophagus, Malabsorption, Multiple muscular ventricular septal d... |
OMIM:615508 |
Anencephaly 2 |
|
Anophthalmia, Median cleft lip, Median cleft palate, Cleft maxillary alveolar ridge |
OMIM:619452 |
Insulin-Like Growth Factor I, Resistance To |
|
Thin upper lip vermilion, Rieger anomaly, Severe short stature, Ventricular septal defect, Short ... |
OMIM:270450 |
Focal Dermal Hypoplasia |
|
Ridged nail, Ureteral duplication, Congenital hip dislocation, Brittle hair, Anophthalmia, Osteop... |
OMIM:305600 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Ventricular septal defect, Short stature,... |
OMIM:250410 |
Congenital Hydrocephalus |
|
Posteriorly rotated ears, Hydrocephalus, Sensorineural hearing impairment, Optic atrophy, Abnorma... |
ORPHA:2185 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Cutaneous syndactyly, Polydactyly, Nail dysplasia, Camptodactyly, Small nail, Toenail... |
OMIM:607539 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Overlapping fingers, Broad hallux, Overlapping toe, Short hallux, Triangular shape... |
OMIM:618167 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Cleft soft palate, Accessory oral frenulum, Duplication of thumb ph... |
ORPHA:2756 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, D... |
OMIM:300855 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Recurrent urinary tract infections, Ventricula... |
ORPHA:2438 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of the dentition, Gingival overgrowth, Upper limb undergro... |
OMIM:169400 |
C Syndrome |
|
Short metacarpal, Toe syndactyly, Ventricular septal defect, Short stature, Accessory oral frenul... |
OMIM:211750 |
Turnpenny-Fry Syndrome |
|
Dental crowding, Prominent interphalangeal joints, Downturned corners of mouth, High palate, Wide... |
OMIM:618371 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Small hypothenar eminence, Dermatoglyphic ridges abnormal, Mitral valve prolapse, Small thenar em... |
OMIM:211960 |
Distal 22Q11.2 Microduplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Unilateral renal agenesis, Ta... |
ORPHA:261337 |
Ciliary Dyskinesia, Primary, 28 |
|
Situs inversus totalis, Recurrent otitis media, Dynein arm defect of respiratory motile cilia |
OMIM:615505 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Short stature, Camptodactyly of finger, Sensorineural hearin... |
ORPHA:1466 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent urinary tract infections, Short stature, Ventricular septal defect, Postnatal growth re... |
OMIM:620210 |
Pentalogy Of Cantrell |
|
Ventricular septal defect, Abnormal pericardium morphology, Hypospadias, Renal agenesis, Non-midl... |
ORPHA:1335 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus, Optic atrophy, Elbow flexion contracture, Small nail |
OMIM:619470 |
Lessel-Kreienkamp Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Patent ductus arteriosus, Dental malocclusion, C... |
OMIM:619149 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Short stature, Ventricular septal defect, Postaxial hand polydactyly, Chronic kidney disease, Oro... |
OMIM:615630 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, High, narrow palate, Preaxial polydactyly, Coxa vara, Cutaneous ... |
OMIM:614976 |
Fanconi Anemia, Complementation Group F |
|
Short stature, Absent thumb, Short thumb, Patent ductus arteriosus, Hypoplasia of the radius, 2-3... |
OMIM:603467 |
Branchiootorenal Syndrome 1 |
|
Renal dysplasia, Renal malrotation, Congenital hip dislocation, Intestinal malrotation, Unilatera... |
OMIM:113650 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Anteriorly plac... |
OMIM:619148 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Vesicoureteral reflux, Axial ... |
OMIM:274000 |
Thoraco-Abdominal Enteric Duplication |
|
Dextrocardia, Camptodactyly of finger, Intestinal malrotation, Duodenal stenosis, Abnormal tricus... |
ORPHA:1759 |
Orofaciodigital Syndrome Type 2 |
|
Central retinal vessel vascular tortuosity, Finger clinodactyly, High palate, Short tibia, Atriov... |
ORPHA:2751 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, High, narrow palate, Cleft lip, Thick lower l... |
OMIM:616920 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Aganglionic megacolon, Tapered finger, Patent ductus arteriosus, Inter... |
OMIM:613870 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Single transverse palmar crease, High, narrow palate, Short philtrum,... |
ORPHA:464738 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Branchial Arch Syndrome, X-Linked |
|
High, narrow palate, Short stature, High palate, Pulmonic stenosis |
OMIM:301950 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Hypospadias, Optic nerve hypoplasia... |
OMIM:206900 |
Holoprosencephaly |
|
Hypoplasia of penis, Anophthalmia, Synophrys, Holoprosencephaly, Chorioretinal coloboma, Dandy-Wa... |
ORPHA:2162 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Aplasia of the 1st metaca... |
ORPHA:1352 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Abnormal coronary artery morphology, Ventricular septal ... |
ORPHA:860 |
Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot, Cleft palate |
ORPHA:217 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Short stature, Mic... |
ORPHA:1908 |
Vacterl/Vater Association |
|
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis... |
ORPHA:887 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Sandal gap, Abnormality of the dentition, Deep philtru... |
ORPHA:251038 |
Lissencephaly 8 |
|
Occipital encephalocele, Optic atrophy, Talipes equinovarus, Microphthalmia, Ventriculomegaly |
OMIM:617255 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Short stature, S... |
OMIM:612530 |
Ebstein Anomaly |
|
Atrial septal defect, Ebstein anomaly of the tricuspid valve |
OMIM:224700 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Ectopic kidney, Renal cyst, Anteriorly placed anus, Glossoptosis, Hig... |
OMIM:117650 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Wolcott-Rallison Syndrome |
|
Metaphyseal dysplasia, Renal insufficiency, Short stature, Chronic kidney disease, Growth delay, ... |
ORPHA:1667 |
Ciliary Dyskinesia, Primary, 32 |
|
Situs inversus totalis, Absent respiratory ciliary axoneme radial spokes, Recurrent otitis media |
OMIM:616481 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, H... |
ORPHA:2872 |
9Q21.13 Microdeletion Syndrome |
|
Postnatal growth retardation, Abnormal tongue morphology, Abnormal heart morphology, Downturned c... |
ORPHA:531151 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Trisomy 4P |
|
Low-set, posteriorly rotated ears, Hypospadias, Camptodactyly of finger, Abnormal hair pattern, S... |
ORPHA:1738 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Short stature, Abnormal morphology of ulna, Mitral valve prolapse, High palate, Abnormal metacarp... |
ORPHA:2233 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Optic disc pallor, Optic atrophy, Left ventricular hypertrophy, Lethargy, Hypertrophic cardiomyop... |
OMIM:618228 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... |
ORPHA:380 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Short stature, Accessory oral frenulum, Osteolysis involving bones of the upper limbs... |
ORPHA:88630 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Absent facial hair, Short stature, Hydrocephalus, Low posterior hairline, Mit... |
ORPHA:2183 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Hypospadias, Single transverse palmar crea... |
OMIM:616449 |
Multifocal Atrial Tachycardia |
|
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
Zechi-Ceide Syndrome |
|
Sandal gap, Cleft lip, Short metatarsal, Cleft palate, Abnormal heart morphology, Downturned corn... |
ORPHA:217017 |
Woods Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, 3-4 finger cutaneous syndactyly, Thin... |
OMIM:615236 |
Charge Syndrome |
|
Anophthalmia, Abnormal tibia morphology, Vesicoureteral reflux, Clinodactyly of the 5th finger, M... |
ORPHA:138 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Short stature, Situs inversus totalis, Cardiomyopathy, Aminoaciduria, ... |
OMIM:249270 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract... |
ORPHA:2547 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Renal cyst, Downturned co... |
ORPHA:261494 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Short stature, Wide mouth, Pulmonic stenosis, Atrial septal defect, Hy... |
OMIM:615279 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Thin upper lip vermilion, Abnormal pulmonary valve morphology, Optic nerve hypoplasia, Thick lowe... |
ORPHA:137634 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Cardiomyopath... |
ORPHA:157 |
Meckel Syndrome, Type 5 |
|
Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Renal cyst, Cleft palate, ... |
OMIM:611561 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Ciliary Dyskinesia, Primary, 30 |
|
Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Absent outer dy... |
OMIM:616037 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Dilated cardiomyopathy, Pulmonic stenosis |
ORPHA:79159 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Proportionate short stature, Patent ductus arteriosus, Atrial septal d... |
OMIM:617044 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short stature, Cleft lip, Patent ductus arteriosus, Cleft palate, Narrow palate, Contracture of t... |
OMIM:618223 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Short stature, Overlapping toe, Cleft lip, Deep philtrum, Cleft palate, Abnormal heart morphology... |
OMIM:618571 |
Roberts-Sc Phocomelia Syndrome |
|
Tetraphocomelia, High palate, Atrial septal defect, Phocomelia, Wrist flexion contracture, Syndac... |
OMIM:268300 |
Subaortic Stenosis-Short Stature Syndrome |
|
Short stature, Bilateral single transverse palmar creases, Membranous subvalvular aortic stenosis... |
ORPHA:3191 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Hypospadias, Cleft upper lip, Absent pulmonary artery, Patent ductus a... |
OMIM:600460 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
2Q31.1 Microdeletion Syndrome |
|
Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, Short palm, Clinodactyly o... |
ORPHA:251014 |
Endocrine-Cerebroosteodysplasia |
|
Single transverse palmar crease, Micromelia, Preaxial polydactyly, Tibial bowing, Microphallus, T... |
OMIM:612651 |
Spondylo-Ocular Syndrome |
|
Aplasia/Hypoplasia of the lens, Ventricular septal defect, Short stature, Disproportionate short-... |
ORPHA:85194 |
3Q29 Microdeletion Syndrome |
|
Dental crowding, Hypospadias, Abnormality of the dentition, Tapered finger, Patent ductus arterio... |
ORPHA:65286 |
Noonan Syndrome 12 |
|
Anteriorly placed anus, Tetralogy of Fallot, Ventricular septal defect, Proximal placement of thumb |
OMIM:618624 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Sparse scalp hair, Abnormal fingernail morphology, Short statu... |
ORPHA:2701 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Ciliary Dyskinesia, Primary, 2 |
|
Nasal polyposis, Dextrocardia, Situs inversus totalis, Absent inner and outer dynein arms, Otitis... |
OMIM:606763 |
Preaxial Hallucal Polydactyly |
|
Preaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:601759 |
Diets-Jongmans Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Short stature, Wide mouth, Hete... |
OMIM:618846 |
Holoprosencephaly 11 |
|
Holoprosencephaly |
OMIM:614226 |
Microcephaly-Capillary Malformation Syndrome |
|
Brachydactyly, Ventricular septal defect, Short stature, Vesicoureteral reflux, Cleft palate, Atr... |
OMIM:614261 |
Holt-Oram Syndrome |
|
Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnormal carpal morphology... |
OMIM:142900 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Urogenital sinu... |
OMIM:618901 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect, Talipes equinovarus |
OMIM:209770 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Retinal dystrophy, Facial palsy, Hydrocephalus, Abnormal left ventricular function, Cardiomyopath... |
OMIM:613155 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Hypospadias, Esophageal atresia, Tracheoesophageal fistula, Coarctatio... |
ORPHA:1923 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Tented upper lip vermilion, Patent ductus arteriosus after premature birth,... |
OMIM:618460 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Short stature, Growth delay, High palate, Narrow mouth, Microphthalmia |
ORPHA:2528 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Ciliary Dyskinesia, Primary, 13 |
|
Situs inversus totalis, Absent outer dynein arms, Recurrent otitis media, Absent inner dynein arms |
OMIM:613193 |
Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Carious... |
OMIM:613680 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Renal agenesis, Hypoplastic scapulae, Split hand, Abnorma... |
OMIM:200980 |
Noonan Syndrome 9 |
|
Hydroureter, Short stature, Ventricular septal defect, Coarctation of aorta, Pulmonic stenosis |
OMIM:616559 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:614500 |
Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Finger syndactyly, Multicystic kidney dy... |
ORPHA:2092 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand... |
OMIM:609945 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Protruding tongue, Patent ductus arteriosus, Alveolar ridge overgrowth... |
OMIM:612938 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia, Abnormal spaced incisors, Thick vermilion border, Everted lower lip vermilion, Shor... |
ORPHA:411986 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Prominent fingertip pads, Bicuspid aortic valve, Short stature, Arachnodactyly, Tapered finger, P... |
OMIM:619721 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy, Talipes equinovarus, Increased CSF lactate |
OMIM:613710 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Mild fetal ventriculomegaly, Low-set ears, Neonatal death, Lethargy, Brachydactyly |
OMIM:610498 |
Orofaciodigital Syndrome Xiv |
|
Natal tooth, Ventricular septal defect, Broad hallux, Hamartoma of tongue, Cleft lip, Supernumera... |
OMIM:615948 |
Joubert Syndrome 16 |
|
Encephalocele, Retinal dystrophy, Renal cyst, Polydactyly, Nephronophthisis, Dandy-Walker malform... |
OMIM:614465 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Open mouth, Ventricular septal defect |
OMIM:616816 |
Joubert Syndrome 22 |
|
Postaxial hand polydactyly, Renal hypoplasia, 2-3 toe syndactyly, Postaxial foot polydactyly, Mic... |
OMIM:615665 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Single transverse palmar crease, Hydrocephalus, Low anterior hairline, Optic atrophy, P... |
OMIM:614219 |
Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
Pierpont Syndrome |
|
Posteriorly rotated ears, Uplifted earlobe, Hearing impairment, Cryptorchidism, Short toe, Deep p... |
ORPHA:487825 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Ventricular septal defect, Short stature, Abnormality of the hand, Clinodactyly, Bila... |
ORPHA:369891 |
Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Ventricular septal defect, Short stature, Tapered finger, Patent ductus arte... |
OMIM:617159 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Hypospadias, Short stature, Unilateral microphthalmos, Bilateral cleft ... |
OMIM:618874 |
Short Stature-Micrognathia Syndrome |
|
Ventricular septal defect, Short stature, Rhizomelia, Bowing of the legs, Coxa valga, Broad femor... |
OMIM:617164 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Ectopic kidney, Proximal placement of thumb, High, n... |
OMIM:122470 |
Syndactyly-Polydactyly-Earlobe Syndrome |
|
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... |
OMIM:186350 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Single transverse pal... |
ORPHA:329224 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Dextrocardia, Pyloric stenosis, Cleft palate, Abnormal heart morpho... |
ORPHA:261197 |
Say Syndrome |
|
Ulnar deviation of the 3rd finger, Short stature, Tapered finger, Proximal renal tubular acidosis... |
OMIM:181180 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Temtamy Syndrome |
|
Brachydactyly, Short toe, Thick lower lip vermilion, Genu varum, Clinodactyly of the 5th finger, ... |
ORPHA:1777 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Hydrocephalus, Rhizomelia |
OMIM:166990 |
Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis, Absent outer dynein arms, Pulmonary insufficiency, Chronic otitis media |
OMIM:614017 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Camptodactyly of finger, Hydrocephalus, Dilated cardiomyopathy, Optic atrophy, Retinal dysplasia,... |
ORPHA:272 |
Severe Canavan Disease |
|
Lethargy, Optic atrophy |
ORPHA:314911 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Hypospadias, Postnatal growth retardation, Abnormal heart morphology, ... |
ORPHA:494344 |
20P12.3 Microdeletion Syndrome |
|
Broad hallux phalanx, Short stature, Narrow mouth, Atrial septal defect, Broad thumb, Long philtrum |
ORPHA:261295 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Oligodontia, Aplasia of the distal phalanx of the 5th finger, High pa... |
OMIM:608670 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Bicuspid aortic valve, Single transverse palmar crease, Limited elbow movement, Proximal placemen... |
OMIM:610759 |
Fried Syndrome |
|
Hydrocephalus, Macrotia, Abnormal optic nerve morphology, Hearing impairment |
ORPHA:85335 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia, Cryptorchidism, Synophrys, Clinoda... |
OMIM:618067 |
Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Severe short stature, Ventricular septal defect, Short sta... |
ORPHA:3255 |
Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Spermatogenic Failure 38 |
|
Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Coiled sperm flagell... |
OMIM:618433 |
Boudin-Mortier Syndrome |
|
Long toe, Mallet finger, Arachnodactyly, Long fingers, Pseudoepiphyses of the proximal phalanges ... |
OMIM:619543 |
Stromme Syndrome |
|
Optic nerve hypoplasia, Hydrocephalus, Bilateral renal hypoplasia, Preaxial polydactyly, Stillbir... |
OMIM:243605 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Hypoplasia of the iris, Subvalvular aortic stenosis, Atrial septal def... |
OMIM:613001 |
Marfanoid Habitus With Situs Inversus |
|
Hyperextensibility of the finger joints, Arachnodactyly, Situs inversus totalis, Mitral valve pro... |
OMIM:609008 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Scapular winging, Ventricular septal defect, Short stature, Single transverse palmar crease, Micr... |
OMIM:618870 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect, Overlapping toe, Abnormality of the kidney, Long philtrum |
ORPHA:466926 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Short stature, Paten... |
ORPHA:457193 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Tetralogy of Fallot, Abnormality of the philtrum, Hypospadias, Abnormality of the dentition |
ORPHA:276422 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia, Holoprosencephaly |
OMIM:147250 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Cleft palate, Abnormal shoulder morphology, ... |
ORPHA:2345 |
Aase-Smith Syndrome I |
|
Ventricular septal defect, Cleft palate, Talipes equinovarus, Open mouth, Slender finger |
OMIM:147800 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Median cleft palate |
ORPHA:2432 |
Jansen-De Vries Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Short stature, Small ... |
OMIM:617450 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Proportionate short stature, Cleft upper lip, Cleft palate, High palate |
OMIM:609654 |
Mosaic Trisomy 16 |
|
Syndactyly, Single coronary artery origin, Ventricular septal defect, Hypospadias, Single transve... |
ORPHA:1708 |
15Q14 Microdeletion Syndrome |
|
Ventricular septal defect, Short stature, Abnormality of the dentition, Cleft palate, Short philt... |
ORPHA:261190 |
Neonatal Marfan Syndrome |
|
Long toe, Arachnodactyly, High, narrow palate, Abnormal cardiac ventricle morphology, Long finger... |
ORPHA:284979 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Holoprosencephaly, Anterior encephalocele |
OMIM:601357 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Ectopic kidney, Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Abnormal heart morphology, Sma... |
OMIM:239800 |
Sarcosinemia |
|
Hypersarcosinuria, Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:3129 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Optic disc hypoplasia, Renal agenesis, Absent thumb, Esophageal atresi... |
OMIM:300514 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Short stature, Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Nephropath... |
OMIM:617056 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Tapered finger, Bilateral cleft lip and palate, Thin vermilion bord... |
OMIM:618829 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Dental crowding, Intestinal malrotation, Ventricular septal defect, Hypospadias, Carious teeth, S... |
OMIM:617602 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the dentition, Carious teeth, Radioulnar synostosis,... |
ORPHA:3270 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Bilateral single transverse palmar creases,... |
ORPHA:96167 |
Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Hemolytic-uremic syndrome, Postnatal growth retardation, Hydrocephalus, Hypertension,... |
ORPHA:2169 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Dental crowding, Hypospadias, Postnatal growth retardation, Pierre-Robin sequence, Cleft palate, ... |
OMIM:619184 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Abnormality of the dentition, Deep philtr... |
OMIM:615398 |
Phaver Syndrome |
|
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Hypoplasti... |
ORPHA:2876 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
Ciliary Dyskinesia, Primary, 15 |
|
Situs inversus totalis, Nasal polyposis, Abnormal axonemal organization of respiratory motile cil... |
OMIM:613808 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Short stature, Nephroblastoma, Postnatal growth retard... |
OMIM:257300 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Growth delay, Lethargy, Short stature |
OMIM:618573 |
Ogden Syndrome |
|
Broad hallux, Ventricular septal defect, Postnatal growth retardation, Cryptorchidism, Cardiogeni... |
ORPHA:276432 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:120433 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Hydroureter, Ventricular septal defect, Abnormal den... |
ORPHA:1458 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Short stature, Patent ductus arteriosus, Hip dislocation, Nephrocalcinosis, Buphthalmos, Limb und... |
OMIM:618005 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Hallux valgus, Thin upper lip vermilion, Dental crowding, Ventricular septal defect, High, narrow... |
ORPHA:466791 |
Seckel Syndrome 2 |
|
Hypospadias, Short stature, Ectopic kidney, Growth delay, Clinodactyly of the 5th finger, Microdo... |
OMIM:606744 |
X-Linked Intellectual Disability, Siderius Type |
|
Preaxial hand polydactyly, Synophrys, Cryptorchidism, Low posterior hairline, Large hands, Decrea... |
ORPHA:85287 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Ciliary Dyskinesia, Primary, 18 |
|
Absent inner dynein arms, Situs inversus totalis, Absent outer dynein arms, Recurrent otitis medi... |
OMIM:614874 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Chromosome 15Q25 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Short stature, Cleft upper l... |
OMIM:614294 |
Contractural Arachnodactyly, Congenital |
|
Hip contracture, Bowing of the long bones, Bicuspid aortic valve, Ventricular septal defect, Arac... |
OMIM:121050 |
Klippel-Trénaunay Syndrome |
|
Peripheral arteriovenous fistula, Venous insufficiency, Patent ductus arteriosus, Upper limb asym... |
ORPHA:90308 |
Frontoocular Syndrome |
|
Narrow philtrum, High palate, Pulmonic stenosis, Narrow mouth, Atrial septal defect |
OMIM:605321 |
Meacham Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total... |
ORPHA:3097 |
Chromosome 5Q12 Deletion Syndrome |
|
Long toe, Ventricular septal defect, Postnatal growth retardation, Long fingers, Patent ductus ar... |
OMIM:615668 |
Ciliary Dyskinesia, Primary, 22 |
|
Nasal polyposis, Dextrocardia, Situs inversus totalis, Absent inner and outer dynein arms, Recurr... |
OMIM:615444 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Short stature, Submucous cleft hard palate, Vesicoureteral reflux, Renal hypoplasia, Aortic valve... |
OMIM:617660 |
Megalencephaly |
|
Atrial septal defect, Long penis, Genu valgum |
ORPHA:2477 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, D... |
OMIM:617201 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly |
ORPHA:93274 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Dental crowding, Arachnodactyly, Narrow mouth, Mitral valve prolapse, High palate, Bilateral tali... |
OMIM:615539 |
Ververi-Brady Syndrome |
|
Thin upper lip vermilion, Short stature, Wide mouth, Everted lower lip vermilion, High palate, Tr... |
OMIM:617982 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Diencephalic Syndrome |
|
Hydrocephalus, Long penis, Optic atrophy, Large hands, Macrotia |
ORPHA:1672 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Congenital Myopathy 11 |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:619967 |
Marfan Syndrome |
|
Bicuspid aortic valve, Dental crowding, Equinus calcaneus, Increased axial length of the globe, H... |
OMIM:154700 |
Ciliary Dyskinesia, Primary, 11 |
|
Short stature, Abnormal central microtubular pair morphology of respiratory motile cilia |
OMIM:612649 |
Gómez-López-Hernández Syndrome |
|
Short stature, Hydrocephalus, Low-set ears, Alopecia of scalp, Toenail dysplasia |
ORPHA:1532 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Cleft palate, Cleft upper lip |
OMIM:214300 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Thanatophoric Dysplasia |
|
Abnormality of the kidney, Micromelia, Abnormal sacroiliac joint morphology, Patent ductus arteri... |
ORPHA:2655 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Thoracic aortic aneurysm, Arachnodactyly, Mitral valve prolapse, Ascending aortic dissection, Hig... |
OMIM:616166 |
Ciliary Dyskinesia, Primary, 50 |
|
Coiled sperm flagella, Short sperm flagella, Absent inner dynein arms |
OMIM:620356 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Postaxial polydactyly, Abnormally large globe, Vascular ring, Atrial s... |
OMIM:603387 |
Joubert Syndrome 10 |
|
Postaxial polydactyly, Growth delay, Low-set ears, Rod-cone dystrophy, Hirsutism |
OMIM:300804 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Optic atrophy |
ORPHA:352682 |
Matthew-Wood Syndrome |
|
Anophthalmia, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Vesicoureteral reflux, Micro... |
ORPHA:2470 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Absent cupid's bow, Cleft palate, Right aortic arch, Widely spaced tee... |
OMIM:617616 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse |
OMIM:614676 |
Triploidy |
|
Hydrocephalus, Meningocele, Aplasia/Hypoplasia affecting the eye, Holoprosencephaly |
ORPHA:3376 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Bicuspid aortic valve, Single transverse palmar crease, 3-5 toe syndactyly, Vesicoureteral reflux... |
OMIM:300707 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Thin upper lip vermilion, Hyperextensibility of the finger joints, Toe syndactyly, Ventricular se... |
ORPHA:505237 |
Monosomy 18P |
|
Microphthalmia, Holoprosencephaly |
ORPHA:1598 |
Masa Syndrome |
|
Short stature, Hydrocephalus, Talipes equinovarus, Ventriculomegaly, Adducted thumb |
OMIM:303350 |
Ciliary Dyskinesia, Primary, 6 |
|
Absent/shortened outer dynein arms, Abnormal respiratory motile cilium morphology |
OMIM:610852 |
Timothy Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Cuta... |
OMIM:601005 |
Potocki-Lupski Syndrome |
|
Dental crowding, Short stature, Abnormal renal morphology, Dental malocclusion, Wide mouth, High ... |
OMIM:610883 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Hydranencephaly, Holoprosencephaly |
ORPHA:2570 |
Ciliary Dyskinesia, Primary, 9 |
|
Situs inversus totalis, Absent outer dynein arms, Recurrent otitis media, Chronic otitis media |
OMIM:612444 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Ventricular septal defect, Unilateral renal agenesis, Postaxial polydactyly, Patent ductus arteri... |
OMIM:614576 |
Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormality of the hand, Abnormal thumb morphology... |
ORPHA:1842 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Vesicoureteral ... |
ORPHA:857 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
German Syndrome |
|
Short stature, Camptodactyly of finger, Orofacial cleft, Abnormal cardiac septum morphology, Ever... |
ORPHA:2077 |
Diprosopus |
|
Non-midline cleft lip, Abnormal cardiac septum morphology, Cleft palate |
ORPHA:1681 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Lobulated tongue, Short palm, Patent foramen ovale, Hamartoma of tongue, Pate... |
OMIM:269860 |
Zaki Syndrome |
|
Toe syndactyly, Short stature, Renal agenesis, Long fingers, Patent ductus arteriosus, Wide mouth... |
OMIM:619648 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Hypospadias, Short stature, Pyloric stenosis, Patent ductus arteriosus... |
OMIM:218350 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Chudley-Mccullough Syndrome |
|
Severe sensorineural hearing impairment, Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Chromosome 9P Deletion Syndrome |
|
High, narrow palate, Deep philtrum, High palate, Atrial septal defect, Micropenis, Long toe, Hypo... |
OMIM:158170 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Renal hypoplasia, Perimembranous ventricular se... |
OMIM:611376 |
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Abnormal respiratory motile cilium morphology |
OMIM:215520 |
Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:265500 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short distal phalanx of toe, Atrial septal defect, Delayed eruption of permanent teeth, Narrow mo... |
OMIM:619356 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Dental crowding, Single transverse palmar crease, Intern... |
OMIM:619503 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Ureterocele, Vesicourete... |
ORPHA:2911 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Short palm, Multicystic kidney dysplasia, Hip contracture, Short statu... |
ORPHA:85201 |
Glut1 Deficiency Syndrome 1 |
|
Hypoglycorrhachia, Lethargy, Paroxysmal lethargy |
OMIM:606777 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Thick lower lip vermilion, Wide mouth, Nephrocalcinosis, Atrial septal defect, Open mouth, Thick ... |
OMIM:611087 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Ventricular septal defect, Short stature, Proximal placement of thumb, Esophageal atresia, Deep p... |
OMIM:610536 |
Cousin Syndrome |
|
Prominent protruding coccyx, Low anterior hairline, Hypoplastic iliac wing, Clinodactyly of the 5... |
OMIM:260660 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Optic atrophy, Bilateral talipes equinovarus, Short stature |
OMIM:618174 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Tibial bowing, Shoulder dislocation, High palate, Widely spaced teeth, Microdontia, Short phalanx... |
OMIM:143095 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, High palate, Widely spaced teeth, Prominent fingertip pads, Vesicoureteral... |
OMIM:610443 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Abnormal EKG, Hydrocephalus, Optic atrophy, Telangiectasia, Abnormal hea... |
ORPHA:93400 |
Cardiospondylocarpofacial Syndrome |
|
Brachydactyly, Severe short stature, High, narrow palate, Mitral valve prolapse, Short palm, Fail... |
ORPHA:3238 |
Coffin-Siris Syndrome 4 |
|
Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,... |
OMIM:614609 |
Geleophysic Dysplasia 2 |
|
Short palm, Thin upper lip vermilion, Short stature, Tricuspid stenosis, Mitral valve prolapse, C... |
OMIM:614185 |
Lujan-Fryns Syndrome |
|
Dental crowding, Arachnodactyly, Camptodactyly of finger, Abnormality of the dentition, High pala... |
ORPHA:776 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Thin upper lip vermilion, Dextrocardia, Coarctation of aorta, Micropenis, High palate, Short phil... |
OMIM:618929 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Ventricular septal defect, Bowing of the legs, Long hallux, Renal cyst, Mitral... |
OMIM:617107 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Vesicoureteral reflux, Cleft palate, Furrowed t... |
ORPHA:453499 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Ventricular septal defect, Hypospadias, Short stature, Cleft lip, Patent ductus arter... |
OMIM:616975 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus, Retinal coloboma, Microphthalmia, Rod-cone dystrophy |
OMIM:601794 |
Lowry-Maclean Syndrome |
|
Hypospadias, Single transverse palmar crease, Delayed eruption of primary teeth, High, narrow pal... |
ORPHA:2409 |
Coffin-Siris Syndrome 6 |
|
Short stature, High, narrow palate, Deep philtrum, Cleft palate, Short philtrum, Atrial septal de... |
OMIM:617808 |
Adams-Oliver Syndrome |
|
Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morphology, Absent toe, Split hand, Es... |
ORPHA:974 |
Al-Raqad Syndrome |
|
Thin upper lip vermilion, Sandal gap, Narrow mouth, Atrial septal defect, Brachydactyly |
OMIM:616459 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Ventricular septal defect, Hypospadias, Fractured radius, Cardiomegaly, Decreased fi... |
OMIM:616897 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Thin upper lip vermilion, Ventricular septal defect, Short stature, Overlapping toe, Tapered fing... |
OMIM:617452 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Short stature, Dextrotransposition of the great arteries, High palate,... |
OMIM:619995 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ulnar deviation of the hand, Ventricular septal defect, Short stature, Proximal placement of thum... |
OMIM:620113 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Ectopic kidney, Orofacial cleft, High palate, Atrial septal defect, Clinod... |
OMIM:607872 |
Meckel Syndrome, Type 10 |
|
Ulnar deviation of the hand, Hypospadias, Postaxial polydactyly, Postaxial hand polydactyly, Rena... |
OMIM:614175 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Clinodactyly, Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition of the great a... |
OMIM:616789 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Abnormality of upper lip vermillion, Sydney crease, Sandal gap, Abnormality of the... |
ORPHA:506358 |
3Mc Syndrome 3 |
|
Short stature, Cleft upper lip, Clinodactyly, Preaxial polydactyly, Horseshoe kidney, Cleft palat... |
OMIM:248340 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Thin upper lip vermilion, Ventricular septal defect, Short stature, Cleft lip, Patent ductus arte... |
OMIM:618454 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Scapular winging, Congenital hip dislocation, Short stature, Carious t... |
OMIM:278250 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Chorioretinal dysplasia, Epispadias, Vitritis, Abnormality of the ear, Retinal dysp... |
ORPHA:2556 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Growth delay, Lethargy, Optic atrophy, Increased CSF lactate |
OMIM:618226 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Short stature, Decreased palmar creases, Narrow palm, Abnormal heart morphology, Short philtrum, ... |
ORPHA:352490 |
Trisomy 18 |
|
Atrial septal defect, Bilateral single transverse palmar creases, Short stature, Abnormality of t... |
ORPHA:3380 |
14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Ventriculomegaly, Short sta... |
ORPHA:264200 |
Formiminoglutamic Aciduria |
|
Atrial septal defect, Abnormal concentration of acylcarnitine in the urine |
ORPHA:51208 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Hypospadias, Short stature, Ventricular septal defect, Absent thumb, Dext... |
ORPHA:96097 |
Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Hypoplasia of penis, Ventricular septal defect, Short stature,... |
ORPHA:3138 |
Buratti-Harel Syndrome |
|
Dilation of Virchow-Robin spaces, Hypospadias, Broad hallux, Velopharyngeal insufficiency, Submuc... |
OMIM:619314 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... |
OMIM:145001 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Bowing of the long bones, Short stature, Polycystic kidney dysplasia |
OMIM:211890 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Arachnodactyly, Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great a... |
OMIM:619910 |
Edinburgh Malformation Syndrome |
|
Long fingers, Synophrys, Hydrocephalus, Generalized hirsutism, Ulnar deviation of finger, Low pos... |
ORPHA:1895 |
Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Short stature, Patent ductus ar... |
OMIM:300712 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Micropenis, Clubbing of fingers, Gingival bleeding, Left ventricular hy... |
ORPHA:335 |
Biemond Syndrome Ii |
|
Preaxial hand polydactyly, Hydrocephalus, Short stature |
OMIM:210350 |
Martsolf Syndrome 1 |
|
Short palm, Short metacarpal, Short stature, Metatarsus adductus, Slender ulna, Short toe, Osteop... |
OMIM:212720 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Adams-Oliver Syndrome 1 |
|
Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Pulmonary arte... |
OMIM:100300 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Overlapping fingers, Cardiomegaly, Narrow palate, Fe... |
OMIM:617022 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Atrial septal defect, Advanced eruption of teet... |
ORPHA:818 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula, Hip dislocation |
OMIM:619083 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... |
OMIM:615113 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Congenital pseudoarthrosis of the clavicle, Dextrocardia |
ORPHA:66630 |
Fryns Syndrome |
|
Ureteral duplication, Tented upper lip vermilion, Single transverse palmar crease, Proximal place... |
OMIM:229850 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Hypospadias, Arachnodactyly, Overlapping toe, Metatarsus adductus, High, narrow palate, Short thu... |
ORPHA:436003 |
Fanconi Anemia |
|
Abnormal femur morphology, High palate, Triphalangeal thumb, Atrial septal defect, Clinodactyly o... |
ORPHA:84 |
Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect, Cleft lip, Cleft palate, Narrow mouth, Broad philtrum |
ORPHA:398156 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Ectopic kidney, Tracheoesophageal fistula, Orofacial cleft, Coarctatio... |
ORPHA:268249 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Celiac disease, Absent... |
ORPHA:284169 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Scapular winging, Hypospadias, Abnormal pulmonary valve morpholo... |
ORPHA:500 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Coffin-Siris Syndrome 7 |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Short stature, Thick ... |
OMIM:618027 |
Johnson Neuroectodermal Syndrome |
|
Severe short stature, Carious teeth, Preaxial hand polydactyly, Cleft palate, Hand polydactyly, E... |
ORPHA:2316 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Thin upper lip vermilion, Arachnodactyly, Intestinal malrotation, Hiatus hernia, Adducted thumb, ... |
OMIM:601776 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Short stature, Deep philtrum, Patent ductus arteriosus, Renal cyst, Coarctation of aorta, Wide mo... |
OMIM:617260 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Short stature, Abnormality of the kidney, Small hand, Cleft palate, Tubulointerstitial nephritis,... |
ORPHA:459061 |
White Forelock With Malformations |
|
Finger syndactyly, Deep philtrum, Clinodactyly of the 5th finger, Atrial septal defect, Abnormal ... |
ORPHA:2475 |
Transaldolase Deficiency |
|
Atrial septal defect, Biventricular hypertrophy, Abnormality of the kidney, Coarctation of aorta |
ORPHA:101028 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Anteriorly placed anus, Downturned corners of mouth, Vesicoureteral refl... |
OMIM:616894 |
Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... |
ORPHA:75566 |
Bardet-Biedl Syndrome 7 |
|
Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Clinodactyly, Rod-cone dystrophy |
OMIM:615984 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Abnormality of the dentition, Clinodactyly, Split hand, Abnormal pelvi... |
OMIM:157900 |
Coffin-Lowry Syndrome |
|
High palate, Widely spaced teeth, Abnormal tricuspid valve morphology, Advanced eruption of teeth... |
ORPHA:192 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Abnormal... |
ORPHA:500159 |
Geleophysic Dysplasia 1 |
|
Short palm, Short stature, Tricuspid stenosis, Camptodactyly of finger, Coxa valga, Hypoplasia of... |
OMIM:231050 |
Schuurs-Hoeijmakers Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Diastema, Patent ductus arteriosus, Downturned c... |
OMIM:615009 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Short stature, Cleft palate, Glossoptosi... |
ORPHA:1393 |
Tarp Syndrome |
|
Single transverse palmar crease, Glossoptosis, Atrial septal defect, Finger syndactyly, Tetralogy... |
ORPHA:2886 |
Hemochromatosis, Type 2A |
|
Congestive heart failure, Dilated cardiomyopathy, Azoospermia, Cardiomyopathy, Lethargy, Arrhythmia |
OMIM:602390 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Short stature, Paten... |
OMIM:605275 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Short stature, Cleft upper lip, Absent thumb, Shor... |
OMIM:105650 |
Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Exaggerated cupid's bow, Ventricular septal defect, Single transverse palm... |
OMIM:618619 |
Knobloch Syndrome |
|
Retinal detachment, Occipital encephalocele, Dextrocardia, Abnormal hair morphology, Hydrocephalu... |
ORPHA:1571 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus, Optic atrophy, Hearing impairment |
OMIM:615191 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly, Retinal coloboma, Chorioretinal coloboma |
ORPHA:2921 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Deep palmar crease, Cleft palate, Cleft upper lip |
OMIM:600251 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Ectopic kidney, Rectal prolapse, Conical incisor, Oligodontia,... |
OMIM:235510 |
Isolated Atp Synthase Deficiency |
|
Short stature, Sensorineural hearing impairment, Dilated cardiomyopathy, Optic atrophy, Renal hyp... |
ORPHA:254913 |
Developmental And Epileptic Encephalopathy 40 |
|
Intrauterine growth retardation, Lethargy |
OMIM:617065 |
Proboscis Lateralis |
|
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Unilateral renal agenesis, Paten... |
ORPHA:141099 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Tented upper lip vermilion, Wide mouth, Nephrocalcinosis, Atrial septal defect, Open mouth |
ORPHA:500533 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Postaxial hand polydactyly, Hydrocephalus, Chorioretinal atrophy, Low-s... |
OMIM:220220 |
Al Kaissi Syndrome |
|
Thin upper lip vermilion, Macrodontia, Short stature, Postnatal growth retardation, High, narrow ... |
OMIM:617694 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Short stature, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyseal ... |
OMIM:300863 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect, Urinary incontinence |
OMIM:620094 |
X Small Rings |
|
Thin upper lip vermilion, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Taper... |
ORPHA:96201 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Pulmonic stenosis, Palmoplant... |
OMIM:615355 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft palate, Glosso... |
OMIM:618021 |
19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Ventricular septal defect, Hypospadias, Toe syndac... |
ORPHA:217346 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus, Depression, Lethargy, Tinnitus |
ORPHA:73256 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased CSF valine concentration, Increased CSF isoleucine concentration, Increased CSF leucine... |
OMIM:246900 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Short stature, Proportionate short stature, Patent ductus arteriosus, ... |
OMIM:277600 |
Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Short stature, Hypoplastic ilia, Optic disc col... |
OMIM:169550 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Hypospadias, Short stature, Single transverse palmar... |
OMIM:309801 |
3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Hypospadias, Postnatal growth retardation, Dilated cardiomyopathy, ... |
OMIM:610198 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Ventriculomegaly, Hydrocephalus, Low anterior hairline, Left ventricular hype... |
OMIM:613153 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Short stature, Renal agenesis, Ectopic kidney, Absent thumb, Short ... |
OMIM:227650 |
Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Short stature, Renal agenesis, Ectopic kidney, Absent thumb, Short ... |
OMIM:600901 |
Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Ventricular septal defect, Short stature, Unilateral renal ... |
OMIM:188400 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Short stature, Accessory oral frenulum, Preaxial hand polydactyly, Cleft palate, Atrial septal de... |
ORPHA:79113 |
Dextrocardia |
|
Abnormal EKG, Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Hydrocephalus, Ab... |
ORPHA:1666 |
20Q13.33 Microdeletion Syndrome |
|
Hallux valgus, Dilation of Virchow-Robin spaces, Hypospadias, Tapered finger, Abnormal cardiac ve... |
ORPHA:261311 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Short stature, Ventricular septal defect, Renal agenesis, Ectopic k... |
OMIM:227645 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Short stature, Hydrocephalus, Low-set ears, Clinodactyly of the 5th finger, Umbilical hernia, Ste... |
ORPHA:1516 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Neurogenic bladder, Short stature, Dextrocardia, Situs inversus totalis, Myelomeningocele, Hydroc... |
OMIM:613686 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal thumb morpho... |
ORPHA:500095 |
Ring Chromosome 21 Syndrome |
|
Holoprosencephaly |
ORPHA:1445 |
Noonan Syndrome 4 |
|
Ureteral duplication, Ventricular septal defect, Short stature, Dental malocclusion, Wide mouth, ... |
OMIM:610733 |
Distal Monosomy 7Q36 |
|
Holoprosencephaly |
ORPHA:1636 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Cardiomegaly, High,... |
ORPHA:3472 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic... |
OMIM:263200 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Paresis of extensor muscles of the big toe, Abnormality of the hand, Hand muscle weakness, Hydroc... |
ORPHA:99947 |
Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Left ventricular noncompaction ca... |
OMIM:611878 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Semilobar holoprosencephaly |
OMIM:601370 |
19P13.3 Microduplication Syndrome |
|
Ventricular septal defect, Long fingers, Hip dislocation, Cleft palate, Growth delay, Hip dysplas... |
ORPHA:447980 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Tetralogy of Fallot, Abn... |
ORPHA:2847 |
Tatton-Brown-Rahman Syndrome |
|
Everted upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Optic nerve hypo... |
OMIM:615879 |
19P13.12 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Toe clinodactyly, Ventricular septal defect, Hypospadias, Sandal g... |
ORPHA:254346 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Retinal detachment, Short femur, Rhizomelia, Sandal gap, Hypospadias, Abnormal pin... |
OMIM:607143 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Carious teeth, High palate, Long philtrum, Atrial septal defect |
OMIM:620184 |
15q26 overgrowth syndrome |
|
Long toe, Renal agenesis, Abnormality of the kidney, Arachnodactyly, Tapered finger, Camptodactyl... |
DECIPHER:81 |
Oculodentodigital Dysplasia |
|
Atrial septal defect, Neurogenic bladder, Selective tooth agenesis, Cleft upper lip, Carious teet... |
OMIM:164200 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... |
ORPHA:99125 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormal carpal morphology, Anteriorly placed anus, High palate,... |
ORPHA:1225 |
Mitral Valve Prolapse 1 |
|
High, narrow palate, High palate, Mitral valve prolapse |
OMIM:157700 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Intestinal pseudo-obstruction, Left atrial enlargement, Pulmonic stenosis |
OMIM:616201 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Abnormal heart... |
OMIM:184705 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Arachnodactyly, Aortic root aneurysm, Short philtrum, Talipes equinova... |
OMIM:301039 |
Primary Pulmonary Hypoplasia |
|
Ureteral stenosis, Dextrocardia, Secundum atrial septal defect, Cleft palate, Patellar hypoplasia... |
ORPHA:2257 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Overriding aorta, Rena... |
ORPHA:3186 |
Degcags Syndrome |
|
Bilateral renal hypoplasia, High palate, Atrial septal defect, Patent foramen ovale, Syndactyly, ... |
OMIM:619488 |
Catel-Manzke Syndrome |
|
Single transverse palmar crease, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid... |
OMIM:616145 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Hypospadias, Ventricular septal defect, Renal agenesis, Cleft lip, Pul... |
OMIM:611812 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia |
OMIM:617091 |
Isolated Osteopoikilosis |
|
Syndactyly, Abnormal pelvis bone morphology, Abnormality of the kidney, Abnormal pelvis bone ossi... |
ORPHA:166119 |
Renpenning Syndrome 1 |
|
Thin upper lip vermilion, Macrodontia, Ventricular septal defect, Hypospadias, Phimosis, Situs in... |
OMIM:309500 |
Microphthalmia, Syndromic 5 |
|
Anophthalmia, Short stature, Optic nerve hypoplasia, Cleft palate, Microphthalmia, Micropenis |
OMIM:610125 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Optic... |
ORPHA:1553 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Short stature, Microphthalmia, Clinodactyly, Brachydactyly |
OMIM:610023 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Osteopathia striata, High palate, Clinodactyly of the 5th finger, Atrial septal ... |
OMIM:300373 |
Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... |
OMIM:101200 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus, Intraute... |
OMIM:617751 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula, Downturned corners of mouth, Rectovaginal f... |
ORPHA:1780 |
Familial Nasal Acilia |
|
Abnormal respiratory motile cilium morphology |
ORPHA:922 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Aplasia/Hypoplasia of the thumb, Anophthalmia, Dental crowdi... |
OMIM:219000 |
Dihydropyrimidinase Deficiency |
|
Growth delay, Uraciluria, Talipes equinovarus, Lethargy, Short phalanx of finger |
OMIM:222748 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Rocker bottom foot, Atrial septal defect, Intrauterine growth retardation, Patent foramen ovale, ... |
ORPHA:89844 |
Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Mitral valve prolapse, Thi... |
OMIM:314400 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bon... |
ORPHA:140976 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Single transverse palmar crease, Overlapping... |
OMIM:613884 |
Waardenburg Syndrome Type 3 |
|
Tented upper lip vermilion, Camptodactyly of finger, Abnormal finger morphology, Cutaneous finger... |
ORPHA:896 |
Holoprosencephaly 14 |
|
Median cleft lip, Ventricular septal defect, Cleft lip, Aortic valve atresia, Cleft palate, Doubl... |
OMIM:619895 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Short stature, Camptodactyly of finger, Long eyelashes, Abnormality of peripheral nerve conductio... |
ORPHA:48431 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Medial flaring of the eyebrow, Retinal detachment, Ventriculomegaly, Short stature, Posteriorly r... |
OMIM:619833 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Scapular winging, Dental crowding, Ventricular septal defect, Single tr... |
OMIM:617061 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Multicystic kidney dysplasia, Short stature, Nephroblastoma, Cleft palate, ... |
ORPHA:1052 |
Idiopathic Congenital Hypothyroidism |
|
Delayed proximal femoral epiphyseal ossification, Bradycardia, Abnormal epiphysis morphology, Umb... |
ORPHA:95717 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Thin upper lip vermilion, Dilation of Virchow-Robin spaces, Dental crowding, Ventricular septal d... |
OMIM:300998 |
Chromosome 10Q26 Deletion Syndrome |
|
Thin upper lip vermilion, Prominent fingertip pads, Congenital hip dislocation, Short stature, Si... |
OMIM:609625 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Anal stenosis, Tented upper lip vermilion, Aganglionic mega... |
OMIM:614749 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Long toe, Coxa magna, Short stature, Sandal gap, Long fingers, Patent ductus arteriosus, Patellar... |
ORPHA:261279 |
Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve, Esophageal varix, Postaxial polydactyly |
OMIM:618955 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Wide mouth, Intrauterine growth retardation, Ventricular septal defect, Widely-spaced incisors |
OMIM:617635 |
Ciliary Dyskinesia, Primary, 26 |
|
Situs inversus totalis, Absent outer dynein arms, Recurrent otitis media |
OMIM:615500 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Retinal detachment, Occipital encephalocele, Optic nerve hypoplasia, Hy... |
ORPHA:370959 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... |
OMIM:606519 |
Hydrolethalus Syndrome 2 |
|
Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot polydactyly, Preaxial foot... |
OMIM:614120 |
Bohring-Opitz Syndrome |
|
Vesicoureteral reflux, Atrial septal defect, Dislocated radial head, Syndactyly, Short stature, C... |
OMIM:605039 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Sandal gap, Renal hypoplasia/aplasia, Tapered finger, Thin vermilion borde... |
ORPHA:1438 |
Osteoporosis-Pseudoglioma Syndrome |
|
Retinal detachment, Crumpled long bones, Short stature, Metaphyseal widening, Abnormal vitreous h... |
ORPHA:2788 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Ventricular septal defect, Hypospadias, Unilateral renal agenesis,... |
ORPHA:464306 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Retinal detachment, Hydrocephalus, Optic nerve hypoplasia |
OMIM:615181 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Short distal phalanx of toe, Abnormal mitral valve morphology, Short stature, Symphalangism affec... |
ORPHA:1292 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Rhizomelia, Short stature, Metaphyseal chondrodysplasia, Abnormality of the calcaneus... |
ORPHA:163966 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Finger joint hypermob... |
ORPHA:363705 |
Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Mitral valve prolapse |
OMIM:616193 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Short stature, Patent ductus arteriosus, Vesicoureteral reflux, Double inlet left ven... |
OMIM:619869 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... |
OMIM:619608 |
Arima Syndrome |
|
Proteinuria, Polyuria, Postaxial hand polydactyly, Esophageal varix, Stage 5 chronic kidney disea... |
OMIM:243910 |
Distal Deletion 3P |
|
Short stature, Postaxial hand polydactyly, Cleft palate, Downturned corners of mouth, Thin vermil... |
ORPHA:1620 |
Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Short stature, Renal agenesis, Ectopic kidney, Absent thumb, Esopha... |
OMIM:227646 |
Bardet-Biedl Syndrome 9 |
|
Attenuation of retinal blood vessels, Syndactyly, Bone spicule pigmentation of the retina, Renal ... |
OMIM:615986 |
Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Split f... |
OMIM:601349 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect, Fetal pyelectasis |
OMIM:301058 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, Short stature, Malabsorptio... |
ORPHA:912 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Hypoplasia of deltoi... |
OMIM:173800 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Cryptorchidism, Postaxial hand polydactyly, Genu v... |
ORPHA:65759 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Dental crowding, Bicuspid aortic valve, Abnormal palmar dermatoglyphics, High, narr... |
OMIM:309800 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Tented upper lip vermilion, Dental crowding, Ventricular septal defect, Rocker bottom ... |
OMIM:612582 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Median cleft lip, Short stature, Accessory oral frenulum, Postaxial polydactyly, Supernumerary to... |
OMIM:617088 |
Joubert Syndrome 7 |
|
Encephalocele, Retinal dystrophy, Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chro... |
OMIM:611560 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Arachnodactyly, Eosinophilic infiltration of the esophagus, Arterial tortu... |
OMIM:609192 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy, Renal tubular acidosis, Tongue... |
OMIM:614922 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Enlarged epiphyses, Metaphyseal dysplasia, Proximal placement of thumb, Hypoplastic ilia, Hydroce... |
OMIM:613330 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:601927 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Smooth philtrum, Renal dysplasia, Short stature, Postaxial polydactyly, Abnormality of the dentit... |
OMIM:300968 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Myhre Syndrome |
|
Short philtrum, Hypoplastic iliac wing, Atrial septal defect, Short stature, Pericardial effusion... |
OMIM:139210 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Selective tooth agenesis, Hypospadias, Cleft upper lip, Conical tooth,... |
OMIM:106260 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Abnormally large globe, Postnatal growth ret... |
ORPHA:1655 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypop... |
OMIM:617895 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Renal insufficiency, Anophthalmia, Proteinuria, Postnatal gr... |
ORPHA:90321 |
Joubert Syndrome 20 |
|
Postaxial polydactyly, 4-5 toe syndactyly, Renal cyst |
OMIM:614970 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Microphthalmia, Retinal dysplasia |
OMIM:615771 |
Fg Syndrome Type 1 |
|
Dental crowding, Single transverse palmar crease, Fused teeth, High palate, Atrial septal defect,... |
ORPHA:93932 |
Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Selective tooth agenesis, Limited elbow movement, Increased density of long bo... |
OMIM:305620 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydactyly, H... |
OMIM:241800 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Long toe, Short stature, Arachnodactyly, Palmoplantar cutis gyrata, Abnormality of primary teeth,... |
ORPHA:75496 |
Neurofibromatosis-Noonan Syndrome |
|
Hypertrophic cardiomyopathy, Short stature, Pulmonic stenosis |
ORPHA:638 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Renal agenesis, Cleft uppe... |
OMIM:164210 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Alobar holoprosencephaly |
OMIM:615433 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Epiphyseal stippling, Renal cyst |
OMIM:614870 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Hypospadias, Cryptorchidism, Hydrocephalus, Renal hypop... |
ORPHA:171839 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hallux valgus, Ventricular septal defect, Short stature, Rocker bottom foot, Cardiomegaly, Campto... |
OMIM:602782 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Dextrocardia, Short stature, Abnorma... |
ORPHA:2315 |
Isolated Polycystic Liver Disease |
|
Multiple renal cysts, Vascular dilatation |
ORPHA:2924 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect, Growth delay, Short stature |
OMIM:620211 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Thin upper lip vermilion, Hiatus hernia, Pancreatic cysts, Renal cyst, Buphthalmos, Polycystic ki... |
OMIM:610199 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Noonan Syndrome 13 |
|
Duplicated collecting system, Atrial septal defect, Overlapping toe, Tapered finger, Metatarsus a... |
OMIM:619087 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular sep... |
ORPHA:137675 |
Snijders Blok-Campeau Syndrome |
|
Taurodontia, High palate, Widely spaced teeth, Perimembranous ventricular septal defect, Pulmonic... |
OMIM:618205 |
Costello Syndrome |
|
Ventricular septal defect, Abnormal dental enamel morphology, Short stature, Abnormality of the d... |
ORPHA:3071 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Renal insufficiency, Short stature, Pulmonary lymphangiectasia, Mitral valve prolapse, Increased ... |
OMIM:247410 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Renal cyst, Premature... |
OMIM:113620 |
Cockayne Syndrome Type 2 |
|
Anophthalmia, Delayed eruption of primary teeth, Intrauterine growth retardation, Widely spaced p... |
ORPHA:90322 |
Nephronophthisis 15 |
|
Polydactyly, Retinal degeneration, Nephronophthisis |
OMIM:614845 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Dental crowding, Deep philtrum, Patent ductus arteriosus, Oligosacchariduria, Macroglossia, Campt... |
ORPHA:397709 |
Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Short stature, Sandal gap, Tapered finger, Secundum atrial septal defect, Preaxial... |
OMIM:620072 |
3Mc Syndrome 1 |
|
Dental crowding, Ventricular septal defect, Single interphalangeal crease of fifth finger, Cleft ... |
OMIM:257920 |
Congenital Varicella Syndrome |
|
Microphthalmia, Micromelia, Intrauterine growth retardation |
ORPHA:291 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Ventricular septal defect, Proteinuria, Short stature, Hematuria, Tubulointerstitial... |
OMIM:616901 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Ventricul... |
OMIM:600373 |
Mass Syndrome |
|
Arachnodactyly, Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse |
OMIM:604308 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Broad hallux, Ventricular septal defect, Clinodactyly of the 2nd toe, Coxa valga, Short distal ph... |
OMIM:620073 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Short stature, Hydronephrosi... |
OMIM:620141 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Flexion contracture of finger, Ventricular septal defect, Hypospadias, Unilateral renal agenesis,... |
ORPHA:464311 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis |
OMIM:607598 |
Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis |
OMIM:185500 |
Lethal Infantile Mitochondrial Myopathy |
|
Lethargy, Renal insufficiency, Cardiomyopathy |
ORPHA:254857 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Hypoglycorrhachia, Lethargy |
ORPHA:71277 |
Takenouchi-Kosaki Syndrome |
|
Thin upper lip vermilion, Hypospadias, Overlapping toe, Unilateral renal agenesis, Proximal place... |
OMIM:616737 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, ... |
OMIM:613404 |
Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Lethargy, Optic atrophy |
OMIM:603896 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Postnatal growth retardation, Patent ductus arteriosus, Abnormal cardiac v... |
ORPHA:2306 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Thin upper lip vermilion, Proximal placement of thumb, Secundum atrial septal defect, 2-3 toe syn... |
OMIM:619121 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Abnormally large globe, Shoulder dislocation, Atrial septal ... |
OMIM:245600 |
Glycine Encephalopathy 1 |
|
Lethargy, Hyperglycinuria |
OMIM:605899 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Optic atrophy, Increased CSF lactate, Colpocephaly, Hyperlysinuria, Increased CSF ... |
OMIM:616034 |
Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, High, narrow palate, Right ve... |
OMIM:619472 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Hypospadias, Intestinal malrotation, Renal hypoplasia/aplasia, Postaxial han... |
ORPHA:2166 |
Warburg Micro Syndrome 2 |
|
Overlapping toe, Asymmetry of the ears, Postnatal growth retardation, Cryptorchidism, Low anterio... |
OMIM:614225 |
Wiedemann-Steiner Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Short stature, Tapered finger, Postnatal growt... |
OMIM:605130 |
Trisomy X |
|
Clinodactyly of the 5th finger, Multicystic kidney dysplasia, Hip dysplasia, Renal hypoplasia/apl... |
ORPHA:3375 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Hydrocephalus, Optic atrophy, Hand... |
ORPHA:60040 |
Incontinentia Pigmenti |
|
Abnormal hand morphology, Abnormal toenail morphology, Spina bifida occulta, Abnormality of the n... |
ORPHA:464 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Varicose vein... |
OMIM:153400 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Calcaneovalgus deformi... |
ORPHA:3078 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy |
ORPHA:79283 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Posteriorly rotated ears, Optic nerve hypoplasia, Broad proximal phalanges of the hand, Abnormal ... |
OMIM:607597 |
Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy |
ORPHA:622 |
Transaldolase Deficiency |
|
Ventricular septal defect, Deep philtrum, Patent ductus arteriosus, Coarctation of aorta, Wide mo... |
OMIM:606003 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Dental crowding, Tibial bowing, High palate, Short philtrum, Clinodactyly of the 5th finger, Micr... |
ORPHA:251028 |
Idiopathic Intracranial Hypertension |
|
Papilledema, Pulsatile tinnitus, Vertigo, Depression, Lethargy |
ORPHA:238624 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Patent ductus arteriosu... |
ORPHA:369837 |
Stickler Syndrome Type 1 |
|
Cleft palate, Mitral valve prolapse, Abnormal epiphysis morphology, Long philtrum, Abnormal verte... |
ORPHA:90653 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Abnormality of the kidney, Micromelia, Hypoplastic ilia, A... |
ORPHA:1860 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Joubert Syndrome 17 |
|
Preaxial polydactyly, Abnormal retinal morphology, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Noonan Syndrome 10 |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Coarctation of aorta, Mitral ... |
OMIM:616564 |
6P22 Microdeletion Syndrome |
|
Finger syndactyly, Hydrocephalus, Overfolded helix, Low-set ears, Clinodactyly, Hydronephrosis, H... |
ORPHA:251046 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Hip dysplasia... |
OMIM:208085 |
Doors Syndrome |
|
Short lingual frenulum, Abnormal finger morphology, Downturned corners of mouth, Nephrocalcinosis... |
ORPHA:79500 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Low-set, posteriorly rotated ears, Hypospadias, Short stature, External ear malformation, Cryptor... |
ORPHA:2505 |
Feingold Syndrome 1 |
|
Jejunal atresia, Ventricular septal defect, Tricuspid stenosis, Esophageal atresia, Patent ductus... |
OMIM:164280 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Short stature, Cleft palate, High palate, Polydactyly, Short tibia |
OMIM:300484 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Everted upper lip vermilion, Dilation of Virchow-Robin spaces, Sandal gap, Single ... |
OMIM:619951 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Posteriorly rotated ears, Abnormal pinna morphology, Highly arched eyebrow, Sy... |
ORPHA:313781 |
Temple Syndrome |
|
Short stature, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Small hand, Short foo... |
ORPHA:254516 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Short stature, Postaxial polydactyly, Retinal pigmen... |
OMIM:617102 |
Distal Deletion 10Q |
|
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Functional abnormality of the blad... |
ORPHA:96148 |
Jacobsen Syndrome |
|
Long hallux, Abnormality of the anus, Broad hallux phalanx, Multicystic kidney dysplasia, Finger ... |
ORPHA:2308 |
Holoprosencephaly 9 |
|
Anophthalmia, Short stature, Optic nerve hypoplasia, Cryptorchidism, Postaxial hand polydactyly, ... |
OMIM:610829 |
Toriello-Carey Syndrome |
|
Aganglionic megacolon, Short stature, Postnatal growth retardation, Patent ductus arteriosus, Cle... |
ORPHA:3338 |
Refsum Disease |
|
Renal insufficiency, Short metacarpal, Cardiomyopathy, Hammertoe, Abnormal epiphysis morphology, ... |
ORPHA:773 |
Temtamy Syndrome |
|
Aortic regurgitation, Highly arched eyebrow, Hip dislocation, Short 2nd toe, Talipes equinovarus,... |
OMIM:218340 |
Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... |
OMIM:614823 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal insufficiency, Optic atrophy, Renal tubular dysfunction, Growth delay, Lethargy |
ORPHA:289916 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Coxa valga, Abnormality of the elbow, Cleft palate, Oligosacchariduria, Downturned corners of mou... |
ORPHA:163649 |
Mohr Syndrome |
|
Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndactyly, Short stat... |
OMIM:252100 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Lethargy, Renal insufficiency, Optic atrophy, Cardiomyopathy |
ORPHA:79312 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Renal cys... |
OMIM:270400 |
8P Inverted Duplication/Deletion Syndrome |
|
Small hypothenar eminence, Dextrocardia, Frontal balding, Long fingers, Cryptorchidism, Synophrys... |
ORPHA:96092 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dyst... |
ORPHA:2526 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Thin upper lip vermilion, Tented upper lip vermilion, Single transverse palmar crease, Thick lowe... |
OMIM:620075 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Short stature, Renal agenesis, Preaxial hand polydactyly, Deep phil... |
ORPHA:1297 |
Meningococcal Meningitis |
|
Shock, Papilledema, Renal insufficiency, CSF pleocytosis, Hypotension, Hypoglycorrhachia, Letharg... |
ORPHA:33475 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy, Hypertrophic cardiomyopathy |
OMIM:618683 |
Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
Dental Anomalies And Short Stature |
|
Short stature, Mitral valve prolapse, Oligodontia, Widely spaced teeth, Microdontia, Amelogenesis... |
OMIM:601216 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Bicuspid aortic valve, Dilation of Virchow-R... |
OMIM:619720 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Broad hallux phalanx, Abnormal penis morphology, Hypospadias, P... |
ORPHA:2211 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Triphalangeal thumb, Vesicoureteral reflux, Atrial septal defect, 2-4 finger sy... |
OMIM:107480 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Foot oligodactyly, Triphalangeal thumb, Short stature, Broad hal... |
OMIM:154400 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Developmental And Epileptic Encephalopathy 92 |
|
Lethargy |
OMIM:617829 |
Diamond-Blackfan Anemia 5 |
|
Short stature, Ventricular septal defect, Hypospadias |
OMIM:612528 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of the u... |
ORPHA:52 |
Edinburgh Malformation Syndrome |
|
Frontal hirsutism, Hydrocephalus |
OMIM:129850 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Low-set, posteriorly rotated ears, Renal insufficiency, Retinal dystrophy, Agangli... |
ORPHA:2318 |
Developmental And Epileptic Encephalopathy 102 |
|
Situs inversus totalis, Atrial septal defect |
OMIM:619881 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Abnormality of retinal pigmentation, Severe short stature, Short stature, Abnormal h... |
OMIM:309900 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy |
OMIM:618224 |
Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Bicuspid aortic valve, Deep philtrum, Short metatarsal, Finger clinod... |
OMIM:617137 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... |
OMIM:231680 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Swollen lip, Calcaneovalgus deformity, Patent foramen ovale, Finger syndactyly, Cleft... |
OMIM:256520 |
Oculodentodigital Dysplasia |
|
Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental enamel morphology, Short hallu... |
ORPHA:2710 |
Microphthalmia, Syndromic 13 |
|
Anteverted ears, Microphthalmia, Short stature, Chorioretinal coloboma |
OMIM:300915 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Sensorineural hearing impairment, Optic atrophy, Hematuria, Chorioretinal col... |
ORPHA:1473 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Ventric... |
OMIM:619909 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Nasal polyposis, Situs inversus totalis, Absent outer dynein arms, C... |
OMIM:244400 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Lethargy, Hypertrophic cardiomyopathy |
OMIM:613561 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... |
ORPHA:805 |
Early Myoclonic Encephalopathy |
|
Lethargy |
ORPHA:1935 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Broad long bones, Severe short stature, Posteriorly rotated ears, Micromelia, Bowi... |
ORPHA:1865 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Hallux valgus, Dental crowding, Abnormal heart valve morphology, Short stature, Sandal gap, Recur... |
ORPHA:230851 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Hypospadias, Postnatal growth retardation, Cryptorchidism, Short 5th finger, Polydact... |
ORPHA:397590 |
Diamond-Blackfan Anemia 11 |
|
Bilateral cleft palate, Hypoplasia of the ulna, Short stature, Bicuspid aortic valve, Unilateral ... |
OMIM:614900 |
Albers-Schönberg Osteopetrosis |
|
Short stature, Facial palsy, Hearing impairment, Hydrocephalus, Optic atrophy, Genu valgum, Abnor... |
ORPHA:53 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Dilated cardiomyopathy, Optic atrophy, Increased CSF glycine concentration, Lethargy, Hypertrophi... |
OMIM:614299 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Thin upper lip vermilion, Hyperextensibility of the finger joints, Ventricular septal d... |
ORPHA:163979 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Posteriorly rotated ears, Hydrocephalus, Undetectable visual evoked potentials,... |
ORPHA:163961 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Lethargy, Decreased CSF homovanillic acid concentration, Talipes equinovarus |
ORPHA:101150 |
Mend Syndrome |
|
Overlapping fingers, Short stature, Broad hallux, Overlapping toe, Asymmetry of the mouth, Long f... |
ORPHA:401973 |
Marcus-Gunn Syndrome |
|
Postnatal growth retardation, Cleft lip, Nephrolithiasis, Cleft palate, Abnormal heart morphology |
ORPHA:91412 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Nasal polyposis, Absent respiratory ciliary axoneme radial spokes |
OMIM:242670 |
Cardiofaciocutaneous Syndrome 4 |
|
Short stature, Optic nerve hypoplasia, Ventricular septal hypertrophy, Palmoplantar hyperkeratosi... |
OMIM:615280 |
Noonan Syndrome 5 |
|
Short stature, Wide mouth, Thick vermilion border, Pulmonic stenosis, Atrial septal defect, Cubit... |
OMIM:611553 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Proximal femoral metaphyseal irregularity, Subretinal deposits, Early os... |
ORPHA:397715 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypospadias, Cryptorchidism, Polydactyly, Low-set ears, Conductive hearing impairment, Intrauteri... |
OMIM:616910 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia |
OMIM:618948 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Abn... |
OMIM:239300 |
Coach Syndrome 1 |
|
Unilateral renal agenesis, Multiple small medullary renal cysts, Postaxial hand polydactyly, Esop... |
OMIM:216360 |
Microtia |
|
Holoprosencephaly |
ORPHA:83463 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Cleft soft palate, Secundum atrial septal defect, Pierre-Robin sequence... |
OMIM:620183 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia, Cystoid macular degeneration, Macular atrophy, Retinal degeneration |
OMIM:267760 |
Legius Syndrome |
|
High, narrow palate, High palate, Supravalvar pulmonary stenosis |
OMIM:611431 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Single transverse palmar crease, Cleft palat... |
OMIM:247200 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Renal insufficiency, Ketonuria, Macular coloboma, Pulmonary embolism, Hemolytic-uremic syndrome, ... |
ORPHA:79282 |
Krabbe Disease |
|
Abnormal flash visual evoked potentials, Decreased nerve conduction velocity, Hydrocephalus, Opti... |
OMIM:245200 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Single transverse palmar crease, Renal hypoplasia, Renal cyst, 2-3 toe syndactyly, Ureteral agene... |
OMIM:236500 |
Orofaciodigital Syndrome Type 1 |
|
Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Multicystic kid... |
ORPHA:2750 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Retinal detachment, Ventriculomegaly, Remnants of the hyaloid vascular system, Opt... |
OMIM:614643 |
Micro Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Hypoplasia of penis, Shor... |
ORPHA:2510 |
Campomelia, Cumming Type |
|
Multicystic kidney dysplasia, Bowing of the long bones, Micromelia, Pancreatic cysts, Cleft palat... |
ORPHA:1318 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Syndactyly, Brachydactyly, Short stature, Intestinal malrotation, Singl... |
OMIM:614701 |
Giant Cell Arteritis |
|
Pericarditis, Renal insufficiency, Vasculitis, Hematuria, Aortic dissection, Glossitis, Abdominal... |
ORPHA:397 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Growth delay, Microphthalmia, Ventricular septal defect, Hypoplasia of teeth |
OMIM:234050 |
Rabson-Mendenhall Syndrome |
|
Atrial septal defect, Dental crowding, Ventricular septal defect, Short stature, Abnormality of t... |
ORPHA:769 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Ventricular septal defect, Short stature, Rhizomelia, Single transverse palmar crease, Narrow mou... |
OMIM:614114 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Sensorineural hearing impairment, Optic atr... |
OMIM:615636 |
Epidermal Nevus Syndrome |
|
Weakness of long finger extensor muscles, Polycystic kidney dysplasia, Aortic aneurysm |
ORPHA:35125 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Patent ductus arteriosus, Atrial septal defect, Intrauterine growth retardation, Patent foramen o... |
OMIM:620327 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Trisomy 10P |
|
Thumb contracture, Abnormality of the kidney, Abnormality of the hand, Short toe, Ulnar deviated ... |
ORPHA:171929 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Short stature, Single transverse palmar crease, Tapered finger, Dental... |
OMIM:616202 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac... |
ORPHA:85167 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Renal cyst, Narrow greater sciatic notch, Short palm, Atrial septal defect, Exaggerated median to... |
OMIM:312870 |
Weill-Marchesani Syndrome 2 |
|
Short metatarsal, High palate, Broad metacarpals, Short metacarpal, Short stature, Patent ductus ... |
OMIM:608328 |
Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Recurrent otitis media, Dextrocardia |
OMIM:611884 |
Leopard Syndrome 3 |
|
Short stature, Growth delay, Abnormal aortic valve morphology, Abnormal mitral valve morphology, ... |
OMIM:613707 |
Neurooculorenal Syndrome |
|
Mixed hearing impairment, Dextrocardia, Highly arched eyebrow, Short hallux, Aqueductal stenosis,... |
OMIM:620305 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Renal insufficiency, Protruding tongue, Conotruncal defect, Coarctation of a... |
ORPHA:96147 |
Opitz Gbbb Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Cleft upper lip, Rectourethral ... |
OMIM:300000 |
Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Dental crowding, Ventricular septal defect, Short stature,... |
OMIM:145420 |
Renal Agenesis |
|
Renal insufficiency, Ventricular septal defect, Proteinuria, Unilateral renal agenesis, Renal age... |
ORPHA:411709 |
Alazami Syndrome |
|
Postnatal growth retardation, Wide mouth, Slender long bone, Thick vermilion border, Short philtr... |
ORPHA:319671 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Absence of renal corticomedullary differentiation, Secundum atrial septal defect, Renal hypoplasi... |
OMIM:619758 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Dilated cardiomyopathy |
OMIM:618805 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Renal insufficiency, Retinal dystrophy, Postaxia... |
OMIM:608091 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Pursed lips, Patent ductus arteriosus, Aglossia |
OMIM:241310 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Alopecia, Cryptorchidism, Fine hair, Low-set ears, Microphthalmia, Intrauterine gr... |
ORPHA:228390 |
Cranioectodermal Dysplasia 2 |
|
Renal cyst, Fused teeth, High palate, Widely spaced teeth, Atrial septal defect, Microdontia, Pat... |
OMIM:613610 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity, Coxa vara, ... |
ORPHA:457395 |
Laurence-Moon Syndrome |
|
Short stature, Abnormality of the hand, Chorioretinal atrophy, Pigmentary retinopathy, Polydactyl... |
OMIM:245800 |
Warburg Micro Syndrome 3 |
|
Postnatal growth retardation, Optic atrophy, Low anterior hairline, Clinodactyly of the 5th finge... |
OMIM:614222 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Ventriculomegaly, Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Tracheal stenosis, Sparse ... |
OMIM:302960 |
Rhombencephalosynapsis |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Septo-optic dysplasia, Aganglionic megacolo... |
ORPHA:59315 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Short stature, Abnormality of the hand, Velopharyngeal insufficiency, ... |
OMIM:192430 |
Seckel Syndrome 9 |
|
Recurrent urinary tract infections, Ventricular septal defect, Short stature, Pulmonary artery hy... |
OMIM:616777 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Hypoplasia of penis, Ventricular septal defect, Aganglionic megacolon, Malabsorption, Patent duct... |
ORPHA:452 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis |
OMIM:126320 |
Thoracoabdominal Syndrome |
|
Hypospadias, Renal agenesis, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Transpositi... |
OMIM:313850 |
Curry-Jones Syndrome |
|
Ventriculomegaly, Occipital meningocele, Duplication of thumb phalanx, Preaxial hand polydactyly,... |
OMIM:601707 |
Kagami-Ogata Syndrome |
|
Ventricular septal defect, Coxa valga, Long fingers, Patent ductus arteriosus, Limb undergrowth, ... |
OMIM:608149 |
Temple Syndrome |
|
Short stature, Posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Small hand, Short foot, R... |
OMIM:616222 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Microphthalmia, Hydrocephalus, Holoprosencephaly |
OMIM:253800 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Hematuria, Intrauterine gr... |
OMIM:617021 |
Distal Duplication 17Q |
|
Hallux valgus, Thin upper lip vermilion, Severe short stature, Short stature, Rhizomelia, Arachno... |
ORPHA:3379 |
Intellectual Disability-Strabismus Syndrome |
|
Hypospadias, Short stature, Rocker bottom foot, Abnormality of the dentition, Patent ductus arter... |
ORPHA:363528 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Short stature, Proximal placement of thumb, Camptodactyly of finger, A... |
ORPHA:1488 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... |
ORPHA:99050 |
Joubert Syndrome 3 |
|
Atrial septal defect, Open mouth, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:608629 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Dental crowding, Ventricular septal defect, Persistence of primary teeth, Hiatus hernia, Patent d... |
OMIM:619769 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Thin upper lip vermilion, Hyperextensibility of the finger joints, Dental crowding, Ventricular s... |
OMIM:309520 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Short stature, Dextrocardia, Cystathioninuria, Tracheoesophageal fistula, Methylmalonic aciduria,... |
OMIM:277380 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Atrial septal defect, Micropenis, Atrioventricular canal defect, Bifid uvula, Mes... |
ORPHA:672 |
Tetrasomy 9P |
|
Glue ear, Clinodactyly of the 5th finger, Micropenis, Patent foramen ovale, Dandy-Walker malforma... |
ORPHA:3310 |
Shashi-Pena Syndrome |
|
Thin upper lip vermilion, Short metacarpal, Dilation of Virchow-Robin spaces, Unilateral renal ag... |
OMIM:617190 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventricular septal defect, Single transverse palmar crease, Abnormal medullary pyramid morphology... |
ORPHA:79243 |
Joubert Syndrome 37 |
|
Short stature, Posteriorly rotated ears, Postaxial polydactyly, Cryptorchidism, Hydronephrosis, L... |
OMIM:619185 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Prominent fingertip pads, Short stature, Arachnodactyly, Mitral valve prolapse, Wide mouth, Thick... |
OMIM:300986 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Ventricular septal defect, Thyroid lymphangiectasia, Pancreatic lymphan... |
OMIM:235255 |
Okamoto Syndrome |
|
Tented upper lip vermilion, Urinary incontinence, Abnormally large globe, Primum atrial septal de... |
ORPHA:2729 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy, Growth delay, 3-Methylglutacon... |
ORPHA:445038 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ulnar deviation of the wrist, Cryptorchidism, Hydrocephalus, Long eyelashes, Clinodactyly, Ventri... |
OMIM:618577 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Rod-cone dystrophy, Macular hypopigmentation, Polydactyly |
OMIM:617119 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Noonan Syndrome 7 |
|
Short stature, Growth delay, Deep palmar crease, Thick vermilion border, Pulmonic stenosis, Atria... |
OMIM:613706 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Brachydactyly, Right atrial enlargement, Esophageal varix, Pulmonic stenosis, Patent ... |
OMIM:616028 |
Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Congestive heart failure, Hydrocephalus, Nephrotic syndrome, Fair hair, Metaphyseal... |
OMIM:269920 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Thin upper lip vermilion, Tapered finger, Gingival overgrowth, Hip dysplasia, High palate, Short ... |
OMIM:616977 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation, Hydrocephalus, Bicuspid aortic valve |
ORPHA:397951 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thin upper lip vermilion, Atrial septal defect, Short lingual frenulum, Ventricular septal defect... |
OMIM:617360 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Atrial septal defect, Abnormal cerebral vascular morphology, Micromelia, Patent ductus arteriosus... |
ORPHA:2637 |
Metatropic Dysplasia |
|
Low-set, posteriorly rotated ears, Severe short stature, Camptodactyly of finger, Micromelia, Hyd... |
ORPHA:2635 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure, Hydrocephalus, Macroorchidism, Macrotia |
OMIM:300886 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, High palate, Bilateral coxa valga, Atrial septal defect, Patent foram... |
OMIM:615582 |
Kleeblattschaedel |
|
Hydrocephalus, Elbow ankylosis |
OMIM:148800 |
Multiple Sulfatase Deficiency |
|
Broad hallux phalanx, Abnormality of retinal pigmentation, Short stature, Hydrocephalus, Sensorin... |
ORPHA:585 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Multicystic kidney dysplasia, Short metacarpal, Short stature, Toe syndactyly,... |
ORPHA:1001 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Short stature, Clef... |
ORPHA:261236 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Hypospadias, Secundum atrial septal defect, Contracture of the proximal interphalangeal joint of ... |
OMIM:618109 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Bicuspid aortic valve, Abnormal dental enamel morphology, Hypospadias, Abno... |
ORPHA:96169 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Rhizomelia, Hypospadias, 2-3 toe syndactyly, Long philtrum, Microphthalmia, 3-4 fin... |
OMIM:615877 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Cyclic Vomiting Syndrome |
|
Growth delay, Lethargy, Cardiomyopathy, Hearing impairment |
OMIM:500007 |
Biotinidase Deficiency |
|
Alopecia, Optic neuropathy, Myelopathy, Sensorineural hearing impairment, Optic atrophy, Organic ... |
ORPHA:79241 |
Polydactyly, Postaxial, Type A8 |
|
Nail dysplasia, Short stature, Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Broad hallux, Single transverse palmar crease, Retinal pi... |
OMIM:614105 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Decreased nerve conduction velocity, Chorioretinal atrophy, Lethargy, Homocitrullinuria, Hypopigm... |
OMIM:238970 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Short humerus, Rhizomelia, Optic nerve hypoplasia, Submucous cleft hard palate, Disproportionate ... |
OMIM:222765 |
Familial Thyroid Dyshormonogenesis |
|
Delayed proximal femoral epiphyseal ossification, Sensorineural hearing impairment, Abnormal epip... |
ORPHA:95716 |
Fanconi Anemia, Complementation Group N |
|
Postnatal growth retardation, Short thumb, Nephroblastoma, Ventricular septal defect |
OMIM:610832 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Multicystic kidney dysplasia, Talipes equinovarus |
OMIM:614209 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Hypospadias, Renal agenesis, Protruding tongue, Diastema, Postnatal gr... |
OMIM:301040 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Growth delay, Ventricular septal defect |
OMIM:619908 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Postaxial hand polydactyly, Atrial septal de... |
ORPHA:2519 |
Penile Agenesis |
|
Urethral atresia, male, Ventricular septal defect, Hydroureter, Rectal fistula, Fetal pyelectasis... |
ORPHA:49 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Lethargy, Renal insufficiency, Optic atrophy, Cardiomyopathy |
ORPHA:27 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Short palm, Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Intestinal pseudo-ob... |
ORPHA:73246 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Cryptorchidism, Nephrocalcinosis, Short long bone, Rod-cone dystrophy, Bra... |
OMIM:615633 |
Chops Syndrome |
|
Ventricular septal defect, Short stature, High, narrow palate, Patent ductus arteriosus, Anomalou... |
OMIM:616368 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Pulmonic stenosis |
OMIM:619433 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Short st... |
ORPHA:1782 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hip dysplasia, High palate, Long philtrum, Open mouth |
OMIM:618798 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Ventriculomegaly, Rocker bottom foot, Coxa valga, Cryptorchidism, Sensorineural hearing impairmen... |
OMIM:214150 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Short stature, Postnatal growth retardation, Upper limb asymmetry, Protruding ear, Polydactyly, C... |
ORPHA:231140 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... |
ORPHA:2347 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Lethargy, Ventriculomegaly, Increased CSF lactate |
OMIM:312170 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Meta... |
OMIM:224400 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus, Optic atrophy, Abnormal metacarpal morphology, Conductive hearing impairment, Brac... |
ORPHA:93262 |
Keutel Syndrome |
|
Pulmonary artery stenosis, Ventricular septal defect, Short stature, Short distal phalanx of finger |
ORPHA:85202 |
Tetraploidy |
|
Renal hypoplasia/aplasia, Radial club hand, Cleft palate, Short philtrum, Intrauterine growth ret... |
ORPHA:3305 |
Kleefstra Syndrome 1 |
|
Natal tooth, Hypospadias, Single transverse palmar crease, Protruding tongue, Persistence of prim... |
OMIM:610253 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Synophrys, Pulmonary arterial hypertension, Long eyelashes, Lethargy |
OMIM:619064 |
Diaphanospondylodysostosis |
|
Narrow pelvis bone, Multiple renal cysts, Cleft palate |
ORPHA:66637 |
Diamond-Blackfan Anemia 10 |
|
Short stature, Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus, Cleft palate,... |
OMIM:613309 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect, Triphalangeal thumb |
OMIM:615550 |
Fanconi Anemia, Complementation Group G |
|
Growth delay, Microphthalmia, Abnormal thumb morphology |
OMIM:614082 |
Atelis Syndrome 2 |
|
Single transverse palmar crease, Diastema, Patent ductus arteriosus, Thick lower lip vermilion, S... |
OMIM:620185 |
7Q31 Microdeletion Syndrome |
|
Prominent fingertip pads, Postnatal growth retardation, Patent ductus arteriosus after birth at t... |
ORPHA:251061 |
Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Microphthalmia, Short thumb, Intrauterine growth retardation |
OMIM:609054 |
Hajdu-Cheney Syndrome |
|
Downturned corners of mouth, Periodontitis, Partial absence of toe, Hypospadias, Short stature, O... |
ORPHA:955 |
Braddock-Carey Syndrome 2 |
|
Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Clinodactyly |
OMIM:619981 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Holoprosencephaly |
ORPHA:2165 |
Hurler Syndrome |
|
Short stature, Camptodactyly of finger, Angina pectoris, Abnormal heart valve morphology, Hydroce... |
ORPHA:93473 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Sandal gap, Aortopulmonary collateral arteries, Abnormality of the dentition, Long... |
OMIM:617557 |
Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Dental crowding, Short stature, Metatarsus adductus, Patent ductus arteri... |
ORPHA:293939 |
Mckusick-Kaufman Syndrome |
|
Syndactyly, Hydroureter, Aganglionic megacolon, Congenital hip dislocation, Mesoaxial hand polyda... |
OMIM:236700 |
Fraser Syndrome |
|
Hypoplasia of penis, Anophthalmia, Urethral atresia, Conductive hearing impairment, Encephalocele... |
ORPHA:2052 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Lethargy, Increased CSF lactate |
OMIM:618225 |
Pontocerebellar Hypoplasia, Type 6 |
|
Lethargy, Increased CSF lactate |
OMIM:611523 |
Ulbright-Hodes Syndrome |
|
High palate, Phocomelia, Abnormal penis morphology, Short metacarpal, Humeroradial synostosis, Re... |
ORPHA:3404 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Postaxial hand polydactyly, Hydrocephalus,... |
OMIM:607361 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Downturned corners of mouth, Short philtrum, Atrial septal defect, Hypos... |
ORPHA:280 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Lacticaciduria, Aminoaciduria, Lethargy, Hypertrophic cardiomyopathy |
OMIM:619386 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Arachnodactyly, Hydrocephalus, Shoulder dislocation, Umbilical hernia, Addu... |
ORPHA:2181 |
Cerebrofacioarticular Syndrome |
|
Irregular dentition, Anal stenosis, Syndactyly, Hypospadias, Short stature, Renal hypoplasia, Abn... |
ORPHA:314679 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Bilateral microphthalmos, Lobar holoprosencephaly, Holop... |
OMIM:610828 |
Joubert Syndrome |
|
Encephalocele, Aganglionic megacolon, Highly arched eyebrow, Situs inversus totalis, Hydrocephalu... |
ORPHA:475 |
Mitral Valve Prolapse 3 |
|
Mitral valve prolapse |
OMIM:610840 |
Mitral Valve Prolapse 2 |
|
Mitral valve prolapse |
OMIM:607829 |
Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Right aortic arch, Dextrocardia |
OMIM:617577 |
Pyruvate Dehydrogenase Deficiency |
|
Ventriculomegaly, Osteolytic defects of the middle phalanx of the 4th toe, Growth delay, Intraute... |
ORPHA:765 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short stature, Hamartoma of tongue, Accessory oral frenulum, Postaxial polydactyl... |
OMIM:258860 |
King-Denborough Syndrome |
|
Ventricular septal defect, Deep philtrum, High palate, Short stature |
OMIM:619542 |
Jacobsen Syndrome |
|
Brachydactyly, Ventricular septal defect, Hypospadias, Pyloric stenosis, Macular hypoplasia, Clin... |
OMIM:147791 |
Nphp3-Related Meckel-Like Syndrome |
|
Renal dysplasia, Multicystic kidney dysplasia, Intestinal malrotation |
ORPHA:3032 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Cleft palate, High palate |
ORPHA:52055 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Synophrys, Shoulder dislocation, Conductive he... |
ORPHA:536545 |
Trisomy 20P |
|
Low anterior hairline, Protruding ear, Coarse hair, Low-set, posteriorly rotated ears, Finger syn... |
ORPHA:261318 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Multicystic kidney dysplasia, Cryptorchidism, Hydrocephalus, Optic atrophy... |
ORPHA:3301 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Unilateral renal agenesis, Intraventricular hemorrhage, Cleft palate, Abnormal heart morphology, ... |
ORPHA:79284 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Prominent superficial veins, Cor triatriatum, Recurrent urinary tract infections, Single transver... |
OMIM:612541 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, High, narrow palate, Clino... |
ORPHA:373 |
Myhre Syndrome |
|
Abnormal penis morphology, Short palm, Brachydactyly, Severe short stature, Hypospadias, Epispadi... |
ORPHA:2588 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Broad thumb, Abn... |
ORPHA:1278 |
Bartsocas-Papas Syndrome 1 |
|
Ectopic kidney, Hypoplastic iliac wing, Micropenis, Short phalanx of finger, Patent foramen ovale... |
OMIM:263650 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... |
ORPHA:2041 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cryptorchidism, Methylmalonic aciduria, Growth delay, Pulmonary arterial hypertension, Atrial sep... |
OMIM:614857 |
Gaba-Transaminase Deficiency |
|
Lethargy |
OMIM:613163 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Syncope, Palpitations, Lethargy, Hypertrophic cardiomyopathy |
ORPHA:276556 |
Jackson-Weiss Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Broad metatarsal, Short metatarsal, 2-3 toe syndactyly, Sym... |
ORPHA:1540 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Lacticaciduria, Hyperglycinuria, Increased CSF... |
OMIM:605711 |
Diamond-Blackfan Anemia 4 |
|
Atrial septal defect, Growth delay, Short stature |
OMIM:612527 |
Optic Pathway Glioma |
|
Papilledema, Hydrocephalus, Vertigo, Optic atrophy, Growth delay |
ORPHA:2086 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Brachydactyly, Mild postnatal growth retardation, Short stature, Unilateral ren... |
OMIM:101800 |
Specc1L-Related Hypertelorism Syndrome |
|
Atrial septal defect, Finger syndactyly, Ventricular septal defect, Ectopic kidney, Patent ductus... |
ORPHA:1519 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Post... |
ORPHA:1465 |
Peters Plus Syndrome |
|
Ureteral duplication, Micromelia, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, W... |
ORPHA:709 |
Dahlberg-Borer-Newcomer Syndrome |
|
Renal insufficiency, Brachydactyly, Short stature, Mitral valve prolapse, Nephropathy, Short dist... |
ORPHA:1563 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Retinal detachment, Optic nerve hypoplasia, Highly arched eyebrow, Retinal telangiectasia, Hydroc... |
OMIM:620157 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Short stature, Arachnodactyly, Hiatus hernia, Hip dislo... |
OMIM:617729 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Retinal arteriolar tortuosity, Renal cyst, Lacunar stroke, Hematuria, Dilata... |
OMIM:611773 |
Ciliary Dyskinesia, Primary, 25 |
|
Situs inversus totalis, Recurrent otitis media, Dextrocardia |
OMIM:615482 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Bicuspid aortic valve |
OMIM:614475 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Rocker bottom foot, Camptodactyly of finger, Growth delay, Microphthalmia, Micropenis, Intrauteri... |
OMIM:610756 |
Mucopolysaccharidosis Type 1 |
|
Short stature, Abnormal heart valve morphology, Congestive heart failure, Hydrocephalus, Split ha... |
ORPHA:579 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Narrow greater sciatic notch, Short phalanx of finger, Broad metacarpals,... |
ORPHA:508533 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Alopecia, Congenital hip dislocation, Abnormal fingernail morphology, Ventricu... |
ORPHA:1647 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Anal stenosis, Ureteral hypoplasia, Bladder trabeculation,... |
OMIM:614080 |
Hurler Syndrome |
|
Aortic regurgitation, Hypoplasia of the femoral head, Short stature, Coxa valga, Heparan sulfate ... |
OMIM:607014 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Arachnodactyly, Dental malocclusion, Abnormal shoulder... |
ORPHA:2115 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Absence of renal cor... |
OMIM:120330 |
Central Precocious Puberty In Male |
|
Hydrocephalus, Abnormality of secondary sexual hair, Abnormality of the testis size |
ORPHA:649929 |
Agnathia-Otocephaly Complex |
|
Holoprosencephaly |
OMIM:202650 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Anophthalmia, Submucous cleft hard palate, Cleft palate, Microphthalmia, Fai... |
ORPHA:2250 |
Thyroid Dyshormonogenesis 1 |
|
Growth delay, Umbilical hernia, Lethargy |
OMIM:274400 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Down-sloping shoulders, Cubitus valgus, Widely spaced teeth, Camptodactyly, Microdontia, Micropht... |
OMIM:619694 |
Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Short stature, Cryptorchidism, Optic atrophy, Low ante... |
OMIM:615663 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Syncope, Palpitations, Lethargy, Hypertrophic cardiomyopathy |
ORPHA:276575 |
Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Ventricular septal defect, Single ... |
ORPHA:444072 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Atrial septal defect, High palate, Pulmonic stenosis, Abnormality of the dentition |
OMIM:618282 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Cleft upper lip, Absent thumb, Hypoplasia of the radius, Hand oligod... |
OMIM:602418 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Vasculitis, Cheilitis, S... |
ORPHA:2331 |
Carnitine Deficiency, Systemic Primary |
|
Dicarboxylic aciduria, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitati... |
OMIM:212140 |
Dural Sinus Malformation |
|
Papilledema, Pulsatile tinnitus, Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Hydroc... |
ORPHA:97339 |
Microform Holoprosencephaly |
|
Hypoplasia of penis, Tented upper lip vermilion, Short stature, Renal agenesis, Cleft palate, Oro... |
ORPHA:280200 |
1Q41Q42 Microdeletion Syndrome |
|
Holoprosencephaly |
ORPHA:250999 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Thickened helices, Sparse hair, Atrial septal defect, Dystrophic fingernails, Low-s... |
ORPHA:1340 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Syncope, Palpitations, Lethargy, Hypertrophic cardiomyopathy |
ORPHA:276580 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Short stature, Abnormal auditory evoked potentials, Coxa valga, Hydrocephalus, Se... |
OMIM:109120 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Cryptorchidism, Abnorma... |
ORPHA:3121 |
Encephalocraniocutaneous Lipomatosis |
|
Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prolapse, Interrupted aortic ar... |
ORPHA:2396 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Finger syndactyly, Hydroureter, Hypospadias, Abnormal dental morpholog... |
ORPHA:568 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Hallux valgus, Secundum atrial septal defect, High palate, Broad thumb, Clinodactyly, Long hallux |
OMIM:620194 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Atrial septal defect, Tapered finger, Patent ductus arteriosus, Small hand, Renal hypoplasia, Sev... |
OMIM:620005 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Proteinuria |
ORPHA:2143 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Micromelia, Proximal placement of thumb, Downturned corners of mouth, Widely... |
ORPHA:199 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Polydactyly, Rod-cone dystrophy, A... |
OMIM:613464 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Thin upper lip vermilion, Secundum atrial septal defect, Postnatal growth retardation, 2-3 toe cu... |
OMIM:620242 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... |
ORPHA:1826 |
Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Postaxial polydactyly, Renal hypoplasia, Pigmentary retinopathy, Rod-con... |
OMIM:600151 |
Hogue-Janssen Syndrome 2 |
|
Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Abnormal hair whorl, Hydrocephalu... |
OMIM:616362 |
Septooptic Dysplasia |
|
Optic disc hypoplasia, Short stature, Optic nerve hypoplasia, Polydactyly, Short finger |
OMIM:182230 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Dental crowding, Vascular dilatation, Long fingers, Varicose veins, Thin vermilion border, Short ... |
OMIM:618343 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Lethargy, Increased CSF lactate |
OMIM:615838 |
Noonan Syndrome 14 |
|
Scapular winging, Short stature, High, narrow palate, Clinodactyly, Mitral valve prolapse, Wide m... |
OMIM:619745 |
8P11.2 Deletion Syndrome |
|
Hypoplasia of penis, Short stature, Patent ductus arteriosus, Mitral valve prolapse, Growth delay... |
ORPHA:251066 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Equinus calcaneus, Congestive heart failure, Pigmentary retinopathy, Car... |
ORPHA:746 |
Xq12-Q13.3 Duplication Syndrome |
|
Optic disc pallor, Short stature, Cryptorchidism, 2-3 toe syndactyly, Anterior creases of earlobe... |
ORPHA:314389 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy |
OMIM:617900 |
Congenital Disorder Of Glycosylation, Type It |
|
Ventricular septal defect, Short stature, Cardiomegaly, Dilated cardiomyopathy, Pierre-Robin sequ... |
OMIM:614921 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Hi... |
OMIM:271640 |
Classical Ehlers-Danlos Syndrome |
|
Phalangeal dislocation, Hiatus hernia, Rectal prolapse, Hip dislocation, Mitral valve prolapse, B... |
ORPHA:287 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Bicuspid aortic valve, Ventricular septal d... |
ORPHA:457279 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
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Abnormality of the urinary system, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmo... |
ORPHA:2184 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
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Lethargy, 3-Methylglutaconic aciduria, Short stature, Dilated cardiomyopathy |
OMIM:618120 |
Duane Retraction Syndrome |
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Aplasia/Hypoplasia of the thumb, Optic disc hypoplasia, Ectopic kidney, Triphalangeal thumb, Chor... |
ORPHA:233 |
Cardiomyopathy, Dilated, 1Oo |
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Atrial septal defect, Dilated cardiomyopathy |
OMIM:620247 |
Mend Syndrome |
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Crossed fused renal ectopia, Short stature, Broad hallux, Overlapping toe, Long fingers, 2-3 toe ... |
OMIM:300960 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
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Cardiac arrest, Hypoplastic toenails, Myofiber disarray, Increased CSF lactate, Lethargy, Hypertr... |
OMIM:604377 |
Alexander Disease |
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Hydrocephalus, Increased CSF protein concentration, Apathy |
OMIM:203450 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
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Syndactyly, Congenital hip dislocation, Patent ductus arteriosus, Mitral valve prolapse, High pal... |
OMIM:104350 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
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Syndactyly, Hypospadias, Proximal placement of thumb, Patent ductus arteriosus, Pierre-Robin sequ... |
OMIM:217980 |
Aicardi-Goutieres Syndrome 4 |
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Hydrocephalus, CSF lymphocytic pleiocytosis, Low-set ears, Intrauterine growth retardation, Ventr... |
OMIM:610333 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
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Rhizomelia, Ulnar deviation of the wrist, Patent ductus arteriosus, 2-3 toe syndactyly, Irregular... |
OMIM:618162 |
Bardet-Biedl Syndrome 20 |
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Proteinuria, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Atrial septal... |
OMIM:619471 |
Trichohepatoenteric Syndrome 1 |
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Villous atrophy, Ventricular septal defect, Hypospadias, Short stature, Avascular necrosis of the... |
OMIM:222470 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
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Abnormally large globe, Hydrocephalus, Sensorineural hearing impairment, Microphthalmia, Retinal ... |
OMIM:615249 |
Immunodeficiency 83, Susceptibility To Viral Infections |
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Lethargy |
OMIM:613002 |
Chromosome 17P13.1 Deletion Syndrome |
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Hallux valgus, Arachnodactyly, Broad hallux, Proximal placement of thumb, Tapered finger, Highly ... |
OMIM:613776 |
Cockayne Syndrome B |
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Dry hair, Ivory epiphyses of the phalanges of the hand, Hypoplasia of the iris, Square pelvis bon... |
OMIM:133540 |
Congenital Megacalycosis |
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Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Tatton-Brown-Rahman Syndrome |
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Proportionate short stature, Deep philtrum, Patent ductus arteriosus, Short toe, Widely-spaced ma... |
ORPHA:404443 |
Floating-Harbor Syndrome |
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Short middle phalanx of the 2nd finger, Glandular hypospadias, Downturned corners of mouth, Nephr... |
OMIM:136140 |
Cataract 9, Multiple Types |
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Microphthalmia |
OMIM:604219 |
White-Sutton Syndrome |
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Duplicated collecting system, Short stature, Optic nerve hypoplasia, Patent ductus arteriosus, Cl... |
OMIM:616364 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
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Thin upper lip vermilion, Dental crowding, Hypospadias, Sandal gap, Postaxial polydactyly, Downtu... |
OMIM:615761 |
Baraitser-Winter Syndrome 2 |
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Thin upper lip vermilion, Short stature, Orofacial cleft, Wide mouth, Long philtrum, Microphthalmia |
OMIM:614583 |
Microphthalmia, Syndromic 6 |
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Anophthalmia, Single transverse palmar crease, Uplifted earlobe, Protruding ear, Clinodactyly of ... |
OMIM:607932 |
Williams-Beuren Region Duplication Syndrome |
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Short stature, Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Long eyelashes, Horizont... |
OMIM:609757 |
Mucopolysaccharidosis, Type Vii |
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Coarse hair, Narrow greater sciatic notch, Large iliac wing, Proximal tapering of metacarpals, Sh... |
OMIM:253220 |
Oligomeganephronia |
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Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Secundum... |
ORPHA:2260 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
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Retinal detachment, Occipital encephalocele, Retinal atrophy, Ventriculomegaly, Optic nerve hypop... |
OMIM:236670 |
Cartilage-Hair Hypoplasia |
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Micromelia, Heart block, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Sparse hair, Lo... |
ORPHA:175 |
Hallermann-Streiff Syndrome |
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Sparse scalp hair, Sparse eyelashes, Abnormality of the hand, Spina bifida, Sparse eyebrow, Crypt... |
OMIM:234100 |
Pseudoaminopterin Syndrome |
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Brachydactyly, Short stature, Single transverse palmar crease, Limited elbow movement, Overlappin... |
ORPHA:221120 |
Larsen Syndrome |
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Short metacarpal, Ventricular septal defect, Short stature, Spatulate thumbs, Cleft upper lip, El... |
OMIM:150250 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
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Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
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Optic disc pallor, Abnormal pinna morphology, Hydrocephalus, Vertigo, Hypoplasia of the iris, Sev... |
OMIM:614195 |
Mandibulofacial Dysostosis With Alopecia |
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Hydroureter, Dental crowding, Bicuspid aortic valve, Delayed eruption of primary teeth, Cleft pal... |
OMIM:616367 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
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Hydrocephalus, Aganglionic megacolon, Ventriculomegaly, Dislocated radial head |
OMIM:304100 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
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Synophrys, Hydrocephalus, Broad eyebrow, Protruding ear |
OMIM:618302 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Short palm, Thin upper lip vermilion, Postnatal growth retardation, Small hand, Short foot, Thin ... |
OMIM:241410 |
Loeys-Dietz Syndrome 4 |
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Bicuspid aortic valve, Arachnodactyly, Eosinophilic infiltration of the esophagus, Arterial tortu... |
OMIM:614816 |
Ring Chromosome 12 Syndrome |
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Syndactyly, Secundum atrial septal defect, High, narrow palate, Abnormal 5th finger morphology, G... |
ORPHA:1439 |
Mucopolysaccharidosis-Plus Syndrome |
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Proteinuria, Acetabular dysplasia, Patent ductus arteriosus, Metaphyseal widening, Clubbing, Macr... |
OMIM:617303 |
Lethal Acantholytic Erosive Disorder |
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Natal tooth, Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Cardiomyop... |
ORPHA:158687 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
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Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Left ventricular hypertrop... |
OMIM:615474 |
Hyperlysinuria With Hyperammonemia |
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Dibasicaminoaciduria, Lethargy, Hyperlysinuria, Growth delay |
OMIM:238750 |
Cystic Echinococcosis |
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Renal cyst, Abnormal heart morphology, Membranous nephropathy, Ovarian cyst, Hepatic cysts |
ORPHA:400 |
Sim1-Related Prader-Willi-Like Syndrome |
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Hypopigmentation of hair, Cryptorchidism, Small hand, Short foot, Hip dysplasia, Chorioretinal hy... |
ORPHA:398079 |
X-Linked Dominant Chondrodysplasia Punctata |
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Sparse eyelashes, Short stature, Abnormal hair pattern, Abnormal pinna morphology, Sparse eyebrow... |
ORPHA:35173 |
Congenital Contractural Arachnodactyly |
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Arachnodactyly, Intestinal malrotation, Camptodactyly of finger, Tracheoesophageal fistula, Mitra... |
ORPHA:115 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
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Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Abnormal metatarsal morphology,... |
ORPHA:85438 |
Pontocerebellar Hypoplasia, Type 15 |
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Hydrocephalus |
OMIM:619302 |
Distal Deletion 6P |
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Abnormality of the dentition, Orofacial cleft, Downturned corners of mouth, Hypoplasia of the iri... |
ORPHA:96125 |
Trisomy 8P |
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Short fourth metatarsal, Abnormal atrioventricular connection, Single transverse palmar crease, F... |
ORPHA:264450 |
Intellectual Developmental Disorder, X-Linked 30 |
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Prominent fingertip pads, Hydrocephalus, Macrotia, Short stature |
OMIM:300558 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
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Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
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Cardiomegaly, Protruding tongue, Abnormal thumb morphology, Abnormal atrioventricular valve morph... |
ORPHA:324410 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
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Severe short stature, Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosu... |
ORPHA:3047 |
Achondroplasia |
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Rhizomelia, Hearing impairment, Hip joint hypermobility, Bowing of the legs, Short proximal phala... |
ORPHA:15 |
Magel2-Related Prader-Willi-Like Syndrome |
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Hypopigmentation of hair, Short stature, Cryptorchidism, Small hand, Short foot, Hip dysplasia, C... |
ORPHA:398069 |
1Q44 Microdeletion Syndrome |
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Optic disc hypoplasia, Short stature, Synophrys, Hydrocephalus, Horseshoe kidney, Growth delay, A... |
ORPHA:238769 |
Fanconi Anemia, Complementation Group R |
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Radial dysplasia, Absent thumb, Agenesis of permanent teeth, Growth delay, Microphthalmia, Pelvic... |
OMIM:617244 |
Distal Limb Deficiencies-Micrognathia Syndrome |
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Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Short stature, Abnormal morpho... |
ORPHA:1307 |
Axial Mesodermal Dysplasia Spectrum |
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Short stature, Renal hypoplasia/aplasia, Abnormality of the ureter, Tracheoesophageal fistula, Re... |
ORPHA:1834 |
Axenfeld-Rieger Syndrome, Type 3 |
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Atrial septal defect, Patent ductus arteriosus, Hypoplasia of the iris, Hypodontia, Microdontia |
OMIM:602482 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
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Microphthalmia, Cryptorchidism, Rod-cone dystrophy, Retinal coloboma |
ORPHA:363741 |
Rubinstein-Taybi Syndrome 1 |
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Dental crowding, Single transverse palmar crease, High, narrow palate, Aortic isthmus hypoplasia,... |
OMIM:180849 |
Helsmoortel-Van Der Aa Syndrome |
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High, narrow palate, Enuresis nocturna, Oligodontia, Widely spaced teeth, Short 4th toe, Atrial s... |
OMIM:615873 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Downturned corners of ... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Downturned corners of ... |
ORPHA:352665 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
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Short femur, Ventricular septal defect, Intestinal malrotation, Genu valgum, Wide mouth, Growth d... |
OMIM:617798 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
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Tented upper lip vermilion, Hypertrophy of the urinary bladder, High palate, Atrial septal defect... |
ORPHA:280633 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
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Postnatal growth retardation, Ventricular septal defect, Abnormal heart morphology |
ORPHA:254534 |
Congenital Pulmonary Lymphangiectasia |
|
Growth delay, Pulmonic stenosis, Chylopericardium |
ORPHA:2414 |
Classic Galactosemia |
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Cryptorchidism, Depression, Lethargy, Delayed puberty |
ORPHA:79239 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
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Lethargy, Tachycardia |
ORPHA:276608 |
Orotic Aciduria |
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Orotic acid crystalluria, Ventricular septal defect, Hematuria, Atrial septal defect, Oroticaciduria |
OMIM:258900 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Dental crowding, Bicuspid aortic valve, High palate, Atrial septal defect, Vesicoureteral reflux,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Dental crowding, Bicuspid aortic valve, High palate, Atrial septal defect, Vesicoureteral reflux,... |
ORPHA:353277 |
Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect, Cleft palate |
OMIM:243440 |
16Q24.3 Microdeletion Syndrome |
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Ventricular septal defect, Optic nerve hypoplasia, Proximal placement of thumb, Dilated cardiomyo... |
ORPHA:261250 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Hydrocephalus, Met... |
OMIM:277400 |
Frontorhiny |
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Encephalocele, Low-set, posteriorly rotated ears, Camptodactyly of finger, Widow's peak, Finger c... |
ORPHA:391474 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Abnormal renal morphology, Humeroradial synosto... |
OMIM:207410 |
Ciliary Dyskinesia, Primary, 19 |
|
Situs inversus totalis, Nasal polyposis, Recurrent otitis media, Absent inner and outer dynein arms |
OMIM:614935 |
Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Micropenis, Retinal... |
OMIM:209900 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Renal dysplasia, Short femur, Dental crowdin... |
OMIM:300990 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect |
OMIM:615160 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Ventricular septal defect, Optic disc hypoplasia, Optic nerve hypoplasia, Proportionate short sta... |
ORPHA:79345 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abnormal metacarpophalangeal joint morphology, Portal hypertension, Cardiomegaly, Congestive hear... |
ORPHA:465508 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Aqueductal stenosis, Humeroradial synostosis, Forearm un... |
OMIM:251230 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Bicuspid aortic valve, Vesicoureteral reflux, Atrial septal defect, Hypospadias,... |
ORPHA:353281 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
Neural Tube Defects, Susceptibility To |
|
Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta |
OMIM:182940 |
15Q Overgrowth Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Abnormal finger flexion crea... |
ORPHA:314585 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Renal insufficiency, Proteinuria, Short stature, Pancreatic cysts, Chroni... |
OMIM:208500 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Cryptorchidism, Meningocele, Choroid plexus cyst, Patellar hypoplasia, Talipes equ... |
ORPHA:1827 |
Opitz Gbbb Syndrome |
|
High palate, Vesicoureteral reflux, Atrial septal defect, Patent foramen ovale, Hypospadias, Shor... |
ORPHA:2745 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Lethargy, Tachycardia, Syncope, Palpitations |
ORPHA:324575 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Macrodontia, Ventricular septal defect, Short stature, Protruding tongue, Diastema, Postnatal gro... |
OMIM:212066 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Thin upper lip vermilion, Renal insufficiency, Toe syndactyly, Short stature, Mitral atresia, Ren... |
ORPHA:140952 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Quadricuspid aortic valve, Unilateral renal agenesis, Hiatus hernia, Mitral valve prolapse, Vesic... |
OMIM:606408 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Holoprosencephaly |
ORPHA:990 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Posteriorly rotated ears, Single transverse palmar crease, Synophrys, Noncommunicating hydrocepha... |
OMIM:619320 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Lethargy, Abnormal cardiac ventricular functio... |
ORPHA:2394 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Neoplasm of the heart, Megacys... |
ORPHA:2241 |
Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Orofacial cleft, Downturned corners of mouth, Short philtrum, At... |
OMIM:194190 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Holoprosencephaly |
ORPHA:2163 |
Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Abnormal tricuspid val... |
ORPHA:199276 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Short stature, Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agene... |
OMIM:617914 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Abdominal situs inversus, Dextrocardia |
OMIM:619607 |
Nephronophthisis 18 |
|
Retinitis, Hydrocephalus, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Hypertens... |
OMIM:615862 |
Fanconi Anemia, Complementation Group S |
|
Macrodontia, Short stature, Proximal placement of thumb, Dental malocclusion, Narrow palate, Micr... |
OMIM:617883 |
Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Hypoplastic acetabulae, Fe... |
OMIM:620076 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly, Hypospadias, Renal cyst |
OMIM:605231 |
L1 Syndrome |
|
Aganglionic megacolon, Aqueductal stenosis, Hydrocephalus, Depression, Adducted thumb |
ORPHA:275543 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Short metatarsal, Renal cyst, Widely spaced teeth, High palate, Nephronopht... |
OMIM:266920 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Tooth agenesis, High palate, Cleft palate |
ORPHA:1135 |
Phace Syndrome |
|
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Lens coloboma, Abnormal heart morpho... |
ORPHA:42775 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Hypospadias, Short stature, Camptodactyly of finger, Abnormality of the ureter... |
ORPHA:2311 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Hypoplastic iliac wing, Tricuspid regurgitation, Short stature, Split hand,... |
OMIM:253200 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Epidural hemorrhage, Abnormal pelvis bone morphology, Abnormal humer... |
ORPHA:464329 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High palate, Arthral... |
ORPHA:93307 |
Multiple Sulfatase Deficiency |
|
Ventriculomegaly, Broad hallux, Short stature, Hydrocephalus, Mucopolysacchariduria, Increased CS... |
OMIM:272200 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Thin upper lip vermilion, Peripheral pulmonary artery stenosis, Ventricular septal defect, Optic ... |
OMIM:617506 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Single transverse palmar crease, Metaphyseal widening, Abnormal finger morphology, Atrial septal ... |
ORPHA:536471 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Hypospadias, Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border... |
ORPHA:544254 |
Lateral Meningocele Syndrome |
|
Neurogenic bladder, Dental crowding, Bicuspid aortic valve, Ventricular septal defect, Short stat... |
OMIM:130720 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Dental crowding, Short statur... |
ORPHA:261323 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Neurogenic bladder, Overlapping fingers, Short stature, Protruding tongue, Secundum atrial septal... |
OMIM:608779 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Tented upper lip vermilion, Deep philtrum, Abnormal heart morphology, Polydactyly, High palate |
ORPHA:314655 |
Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
X-Linked Mandibulofacial Dysostosis |
|
Abnormal mitral valve morphology, Short stature, High palate, Pulmonic stenosis |
ORPHA:1131 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Hypoplastic toenails, Low anterior... |
ORPHA:235 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Dental crowding, Downturned corners of mouth, Widely spaced teeth, Short philtrum, Atrial septal ... |
OMIM:301044 |
Marshall-Smith Syndrome |
|
Brittle hair, Bilateral cryptorchidism, Synophrys, Distal widening of metacarpals, Coxa vara, Cli... |
OMIM:602535 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Posteriorly rotated ears, Hydrocephalus, Sensorineural hearing impai... |
OMIM:615219 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Hjv Or Hamp-Related Hemochromatosis |
|
Lethargy, Dilated cardiomyopathy |
ORPHA:79230 |
Senior-Loken Syndrome 9 |
|
Retinal dystrophy, Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Macular degene... |
OMIM:616629 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Disproportionate short-trunk short stature, Nephroblastomatosis, Cleft palate, ... |
OMIM:608022 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion contracture, Bro... |
OMIM:259600 |
Total Anomalous Pulmonary Venous Return 1 |
|
Total anomalous pulmonary venous return, Dextrocardia |
OMIM:106700 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:614300 |
Opitz-Kaveggia Syndrome |
|
Single transverse palmar crease, Sparse hair, Prominent fingertip pads, Simple ear, Syndactyly, B... |
OMIM:305450 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Abnormal oral mucosa morphology, Renal cyst, Aplasia/Hypoplasia of the bladde... |
ORPHA:79404 |
Nance-Horan Syndrome |
|
Microphthalmia, Retinal detachment, Short metacarpal, Protruding ear |
ORPHA:627 |
Fibrochondrogenesis 1 |
|
Short palm, Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypopl... |
OMIM:228520 |
Monosomy 9Q22.3 |
|
Palmar pits, Hydrocephalus, Cardiac fibroma, Polydactyly, Low-set ears, Microphthalmia, Umbilical... |
ORPHA:77301 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Short stature, Abnormality of the dentition, Secundum atrial septal defect, Wide mouth, Pulmonic ... |
OMIM:615802 |
Constricting Bands, Congenital |
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Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Talipes equinovarus, Ectopia cordis,... |
OMIM:217100 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
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Tented upper lip vermilion, Overlapping toe, Thick vermilion border, High palate, Long philtrum, ... |
OMIM:619383 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Ulnar deviation of the hand, Ventricular septal defect, Hypospadias, Single transverse palmar cre... |
OMIM:214100 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
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Retinal detachment, Chorioretinal dysplasia, Chorioretinal lacunae, Optic atrophy, Protruding ear... |
OMIM:152950 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Prolonged QT interval, Dicarboxylic aciduria, Proportionate short stature, Dilated cardiomyopathy... |
ORPHA:71212 |
Idiopathic Uveal Effusion Syndrome |
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Subretinal fluid, Exudative retinal detachment, Microphthalmia, Increased CSF protein concentrati... |
ORPHA:209956 |
Kabuki Syndrome |
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Hypoplasia of penis, Orofacial cleft, High palate, Widely spaced teeth, Microdontia, Abnormal den... |
ORPHA:2322 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
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Ventricular septal defect, Pericardial effusion, Intrauterine growth retardation, Hypertrophic ca... |
OMIM:618775 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
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Hydrocephalus, Optic atrophy, Lethargy, Homocystinuria, Ventriculomegaly |
ORPHA:395 |
Hydranencephaly |
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Optic nerve hypoplasia, Antenatal intracerebral hemorrhage, Postnatal growth retardation, Dilatat... |
ORPHA:2177 |
Combined Oxidative Phosphorylation Deficiency 9 |
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Tubulointerstitial nephritis, Hypertrophic cardiomyopathy, Patent foramen ovale |
OMIM:614582 |
2P15P16.1 Microdeletion Syndrome |
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Multicystic kidney dysplasia, Toe clinodactyly, Sandal gap, Optic nerve hypoplasia, Camptodactyly... |
ORPHA:261349 |
Alkuraya-Kucinskas Syndrome |
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Ventriculomegaly, Overlapping toe, Posteriorly rotated ears, Pericardial effusion, Hydrocephalus,... |
OMIM:617822 |
Basal Cell Nevus Syndrome 1 |
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Odontogenic keratocysts of the jaw, Down-sloping shoulders, Cleft upper lip, Palmar pits, Hamarto... |
OMIM:109400 |
Diamond-Blackfan Anemia |
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Radial artery aplasia, Ventricular septal defect, Cleft soft palate, Hypospadias, Short stature, ... |
ORPHA:124 |
Mitochondrial Trifunctional Protein Deficiency 1 |
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Congestive heart failure, Dilated cardiomyopathy, Pigmentary retinopathy, Arrhythmia, Lethargy, M... |
OMIM:609015 |
Ciliary Dyskinesia, Primary, 45 |
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Absent inner and outer dynein arms |
OMIM:618801 |
Bartsocas-Papas Syndrome 2 |
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2-5 finger cutaneous syndactyly, Accessory oral frenulum, Small hand, Bilateral cleft lip and pal... |
OMIM:619339 |
Joubert Syndrome 40 |
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Optic nerve hypoplasia, Postaxial polydactyly |
OMIM:619582 |
Prader-Willi Syndrome Due To Translocation |
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Downturned corners of mouth, High palate, Clinodactyly of the 5th finger, Patent foramen ovale, B... |
ORPHA:177907 |
Pontocerebellar Hypoplasia, Type 8 |
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Ventricular septal defect, Tented upper lip vermilion, Patent foramen ovale, Talipes equinovarus |
OMIM:614961 |
Crouzon Syndrome |
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Hydrocephalus, Optic atrophy, Conductive hearing impairment, Narrow internal auditory canal, Hear... |
ORPHA:207 |
Wiedemann-Rautenstrauch Syndrome |
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Optic disc hypoplasia, Congenital malformation of the left heart, Wide penis, Downturned corners ... |
ORPHA:3455 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
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Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... |
OMIM:613834 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
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Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m... |
ORPHA:1071 |
1P36 Deletion Syndrome |
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Hypoplasia of penis, Renal cyst, Clinodactyly of the 5th finger, Abnormality of the anus, Hypospa... |
ORPHA:1606 |
Mucopolysaccharidosis Type 3 |
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Cardiomegaly, Synophrys, Atrioventricular block, Coarse hair, Otitis media, Conductive hearing im... |
ORPHA:581 |
Cutis Laxa, Autosomal Recessive, Type Iic |
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Prominent superficial veins, Dental crowding, Short stature, Overlapping toe, Pyloric stenosis, H... |
OMIM:617402 |
Radio-Tartaglia Syndrome |
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Thin upper lip vermilion, Dental crowding, Ventricular septal defect, Tapered finger, High, narro... |
OMIM:619312 |
Oculodentodigital Dysplasia, Autosomal Recessive |
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Delayed eruption of teeth, Broad long bones, Dental crowding, Short stature, Fifth finger distal ... |
OMIM:257850 |
Developmental And Epileptic Encephalopathy 1 |
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Growth delay, Microphthalmia, Micropenis |
OMIM:308350 |
49,Xxxxy Syndrome |
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Holoprosencephaly |
ORPHA:96264 |
Myopathy, Centronuclear, X-Linked |
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Arachnodactyly, Facial palsy, Cryptorchidism, Hydrocephalus, Slender toe, Dandy-Walker malformation |
OMIM:310400 |
Brittle Cornea Syndrome |
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Hallux valgus, Arachnodactyly, Abnormality of the dentition, Cleft palate, Mitral valve prolapse,... |
ORPHA:90354 |
Meckel Syndrome, Type 6 |
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Cleft upper lip, Postaxial hand polydactyly, Renal cyst, Horseshoe kidney, Cleft palate, Postaxia... |
OMIM:612284 |
Microphthalmia, Isolated, With Corectopia |
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Microphthalmia |
OMIM:156900 |
Fanconi Anemia, Complementation Group Q |
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Short stature, Absent thumb, Esophageal atresia, Primum atrial septal defect, Anteriorly placed a... |
OMIM:615272 |
47,Xyy Syndrome |
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Hypospadias, Cryptorchidism, Hydrocephalus, Oligozoospermia, Finger clinodactyly, Azoospermia, Mi... |
ORPHA:8 |
Williams Syndrome |
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Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ... |
ORPHA:904 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Atrial septal defect,... |
OMIM:250220 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
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Pericarditis, Camptodactyly of finger, Wrist swelling, Coxa vara, Mitral valve prolapse, Short fe... |
ORPHA:2848 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
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Multicystic kidney dysplasia, Short stature, Renal cyst, Glossoptosis, Clinodactyly of the 5th fi... |
ORPHA:2031 |
Propionic Acidemia |
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Increased level of hippuric acid in urine, Short stature, Cerebellar hemorrhage, Hyperglycinuria,... |
OMIM:606054 |
Iniencephaly |
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Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
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Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Cardiomegaly, Lethargy, Arrhythmia |
ORPHA:42 |
Tuberous Sclerosis 1 |
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Dental enamel pits, Gingival fibromatosis, Renal cyst, Cardiac rhabdomyoma, Renal cell carcinoma,... |
OMIM:191100 |
Bdv Syndrome |
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Atrial septal defect, Micropenis, Delayed puberty |
OMIM:619326 |
Goldberg-Shprintzen Syndrome |
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Aganglionic megacolon, Ventricular septal defect, Tapered finger, Increased femoral anteversion, ... |
OMIM:609460 |
Tetrasomy 5P |
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Overlapping toe, Posteriorly rotated ears, Short hallux, Postnatal growth retardation, Long finge... |
ORPHA:3309 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
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Hip contracture, Short stature, Ventricular septal defect, Tarsal synostosis, Elbow flexion contr... |
OMIM:178110 |
Cerebral Visual Impairment |
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Optic disc pallor, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Retinopathy of prematuri... |
ORPHA:447788 |
Typhoid |
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Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Lethargy, Arrhythmia |
ORPHA:99745 |
Orofaciodigital Syndrome Xi |
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Postaxial polydactyly, Cleft palate |
OMIM:612913 |
Cardiac Valvular Dysplasia 2 |
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Bicuspid aortic valve, Ascending tubular aorta aneurysm, Pulmonic stenosis, Subvalvular aortic st... |
OMIM:620067 |
Isolated Complex I Deficiency |
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Optic disc pallor, Optic neuropathy, Sensorineural hearing impairment, Increased CSF lactate, Pro... |
ORPHA:2609 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
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Hydrocephalus |
OMIM:236660 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
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Palmoplantar cutis gyrata, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of the earlobes, Opt... |
ORPHA:1555 |
Pontocerebellar Hypoplasia, Type 7 |
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Ventriculomegaly, Single transverse palmar crease, Cryptorchidism, Synophrys, Hydrocephalus, Opti... |
OMIM:614969 |
Developmental And Epileptic Encephalopathy 18 |
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Atrial septal defect |
OMIM:615476 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
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Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Short stature, Cleft palate, Sh... |
OMIM:614207 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
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Short femur, Tricuspid regurgitation, Decreased CSF copper concentration, Cardiomegaly, Glandular... |
OMIM:620306 |
Pseudo-Torch Syndrome 2 |
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Cerebral hemorrhage, Secundum atrial septal defect, Lateral ventricle dilatation, Bradycardia, Ab... |
OMIM:617397 |
Congenital Disorder Of Glycosylation, Type Ia |
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Thin upper lip vermilion, Villous atrophy, Pericarditis, Proteinuria, Pericardial effusion, Renal... |
OMIM:212065 |
Senior-Loken Syndrome 8 |
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Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Vascular dilatation,... |
OMIM:616307 |
Otopalatodigital Syndrome, Type Ii |
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Congenital hip dislocation, Short metatarsal, Tibial bowing, Femoral bowing, Conductive hearing i... |
OMIM:304120 |
Kaufman Oculocerebrofacial Syndrome |
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Thin upper lip vermilion, Congenital hip dislocation, Ventricular septal defect, Intestinal malro... |
OMIM:244450 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
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Optic disc pallor, Abnormal auditory evoked potentials, Low posterior hairline, Long eyelashes, B... |
OMIM:617523 |
Braddock Syndrome |
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Short stature, Posteriorly rotated ears, Unilateral renal agenesis, Abnormal hair pattern, Preaxi... |
ORPHA:52047 |
Atelosteogenesis Type I |
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Short femur, Rhizomelia, Malrotation of colon, Abnormal ossification involving the femoral head a... |
ORPHA:1190 |
Aicardi Syndrome |
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Retinal detachment, Proximal placement of thumb, Spina bifida, Postnatal growth retardation, Chor... |
OMIM:304050 |
Chromosome 8Q21.11 Deletion Syndrome |
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Syndactyly, Short metacarpal, Cryptorchidism, Sensorineural hearing impairment, Protruding ear, G... |
OMIM:614230 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
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Multiple renal cysts, Renal cyst |
OMIM:614883 |
Joubert Syndrome With Renal Defect |
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Encephalocele, Low-set, posteriorly rotated ears, Renal insufficiency, Aganglionic megacolon, Hig... |
ORPHA:220497 |
Oculocutaneous Albinism Type 1 |
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Hypoplasia of the fovea, White eyelashes, White eyebrow, Depigmented fundus, Abnormal morphology ... |
ORPHA:352731 |
Alagille Syndrome 1 |
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Duplicated collecting system, Hypoplasia of the ulna, Ventricular septal defect, Multiple small m... |
OMIM:118450 |
Sweeney-Cox Syndrome |
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2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Long fingers, Velopharyngeal insufficienc... |
OMIM:617746 |
Thanatophoric Dysplasia, Type I |
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Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Hydrocephalus, Flar... |
OMIM:187600 |
Lacrimoauriculodentodigital Syndrome 1 |
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Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t... |
OMIM:149730 |
Atrial Septal Defect 5 |
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Secundum atrial septal defect |
OMIM:612794 |
Atrial Septal Defect 3 |
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Secundum atrial septal defect |
OMIM:614089 |
Frontonasal Dysplasia 2 |
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Encephalocele, Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine... |
OMIM:613451 |
Diphallia |
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Atrial septal defect, Ureteral duplication, Rectoperineal fistula, Hypospadias, Renal malrotation... |
ORPHA:227 |
Chromosome 14Q11-Q22 Deletion Syndrome |
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Ventricular septal defect, Proportionate short stature, Narrow mouth, Patent ductus arteriosus, G... |
OMIM:613457 |
De Barsy Syndrome |
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Delayed eruption of teeth, Congenital hip dislocation, Ventricular septal defect, Short stature, ... |
ORPHA:2962 |
Holoprosencephaly 4 |
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Semilobar holoprosencephaly |
OMIM:142946 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
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Preaxial hand polydactyly, Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstruc... |
OMIM:601389 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
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Lethargy, Aminoaciduria, Tetralogy of Fallot |
OMIM:250620 |
Spondyloocular Syndrome |
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Long toe, Duodenal ulcer, Short stature, Arachnodactyly, Abnormality of the dentition, Femur frac... |
OMIM:605822 |
Cockayne Syndrome A |
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Dry hair, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic iliac win... |
OMIM:216400 |
Coach Syndrome 2 |
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Hypertension, Hydrocephalus, Chorioretinal coloboma |
OMIM:619111 |
Incontinentia Pigmenti |
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Ridged nail, Coarse hair, Sparse hair, Atrophic, patchy alopecia, Hypoplasia of the fovea, Alopec... |
OMIM:308300 |
Cutis Marmorata Telangiectatica Congenita |
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Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Patent ductus arteriosus, Arteri... |
ORPHA:1556 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Short humerus, Short femur, Hypospadias, Abnormal renal collecting system morphology, Patent duct... |
ORPHA:17 |
Riboflavin Deficiency |
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Lethargy, Dicarboxylic aciduria |
OMIM:615026 |
Ferguson-Bonni Neurodevelopmental Syndrome |
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Patent foramen ovale, High palate, Coronary-pulmonary artery fistula |
OMIM:619699 |
Joubert Syndrome With Hepatic Defect |
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Occipital encephalocele, Multicystic kidney dysplasia, Renal insufficiency, Highly arched eyebrow... |
ORPHA:1454 |
Radio-Renal Syndrome |
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Multicystic kidney dysplasia, Severe short stature, Renal agenesis, Micromelia, Renal hypoplasia/... |
ORPHA:3015 |
Gracile Bone Dysplasia |
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Short stature, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Micropenis, Ankylo... |
OMIM:602361 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Ventriculomegaly, Proteinuria, Short stature, M... |
OMIM:251300 |
Hyperphenylalaninemia, Bh4-Deficient, B |
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Lethargy, Increased CSF phenylalanine concentration |
OMIM:233910 |
Cardiofaciocutaneous Syndrome 1 |
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Hyperextensibility of the finger joints, Sparse hair, Clinodactyly of the 5th finger, Atrial sept... |
OMIM:115150 |
Hypomandibular Faciocranial Dysostosis |
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Aplasia/Hypoplasia of the tongue, Patent ductus arteriosus, Cleft palate, Narrow mouth, Atrial se... |
ORPHA:1790 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Renal Hypoplasia, Bilateral |
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Proteinuria, Short stature, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst,... |
ORPHA:97362 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Ventricular septal defect, Short stature, Renal hypoplasia/aplasia, Abnormal tibia morphology, Ab... |
ORPHA:363700 |
Aica-Ribosuria Due To Atic Deficiency |
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Wide mouth, Thin upper lip vermilion, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside le... |
OMIM:608688 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Urethral stricture, Urinary incontinence, Single transverse palmar crease, Downturned corners of ... |
OMIM:619522 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Dicarboxylic aciduria, Cardiac arrest, Ventricular tachycardia, Atrioven... |
OMIM:212138 |
Juvenile Polyposis Of Infancy |
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Short stature, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis, Patent ductus... |
ORPHA:79076 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Cleft palate, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, M... |
ORPHA:306542 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Femoral bowing, Vesicoureteral reflux, Conductive hearing impairment, Abnormality of the wrist, M... |
ORPHA:95699 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Hypospadias, Short... |
OMIM:619268 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Abnormal coronary artery morphology, Bicuspid aortic valve, Ventricular se... |
ORPHA:99094 |
Noonan Syndrome 6 |
|
Growth delay, Hypertrophic cardiomyopathy, Short stature, Pulmonic stenosis |
OMIM:613224 |
Gm1 Gangliosidosis |
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Ventricular septal defect, Short stature, Camptodactyly of finger, Narrow mouth, Patent ductus ar... |
ORPHA:354 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Renal cyst, Proximal tubulopathy, Protein-losing enteropathy, Steatorrhea, Lymph... |
OMIM:602579 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Atrial septal defect, Microdontia, Bifid... |
OMIM:613458 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Pituitary dwarfism, Optic nerve hypoplasia, Delayed proximal femoral epiphyseal ossification, Sen... |
ORPHA:226307 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Cardiomyopa... |
ORPHA:1215 |
Muenke Syndrome |
|
Hypopigmentation of hair, Tarsal synostosis, Hydrocephalus, Sensorineural hearing impairment, Con... |
ORPHA:53271 |
Vacterl Association With Hydrocephalus |
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Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Renal hypoplasia, Abnormal he... |
OMIM:276950 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Single transverse palmar crease, Conductive hearing impairment, Severe sensorineu... |
OMIM:620186 |
Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Conical tooth, Ectopic kidney, Prominent interphalangeal joints,... |
OMIM:135900 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Morning glory anomaly, Phthisis bulbi, Chorioretinal... |
OMIM:612109 |
Semilobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Sensorineural hearing impairment, Hip dislocation, Depression, Grow... |
ORPHA:220386 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Exaggerated cupid's bow, Single transverse palmar crease, Cleft lip, Deep philtrum, 2-3 toe synda... |
OMIM:620098 |
Alobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Sensorineural hearing impairment, Hip dislocation, Depression, Grow... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Short stature, Hydrocephalus, Sensorineural hearing impairment, Hip dislocation, Depression, Grow... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Sensorineural hearing impairment, Hip dislocation, Depression, Grow... |
ORPHA:93924 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Brachydactyly, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Aplasi... |
ORPHA:364577 |
Griscelli Syndrome |
|
Encephalocele, Abnormal eyebrow morphology, Short stature, Abnormal eyelash morphology, Silver-gr... |
ORPHA:381 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Proteinuria, Non-acidotic proximal tubulopathy... |
OMIM:222448 |
Alg9-Cdg |
|
Villous atrophy, Right ventricular dilatation, Abnormal left ventricular outflow tract morphology... |
ORPHA:79328 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, High palate, Bifid uvula |
OMIM:300472 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Atrial septal defect, Dental crowding, Left ventricular noncompaction cardiomyopat... |
OMIM:300967 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly, Abnormal neuron morphology |
ORPHA:163681 |
Peters-Plus Syndrome |
|
Ureteral duplication, Short lingual frenulum, Single transverse palmar crease, Limited elbow move... |
OMIM:261540 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Pagod Syndrome |
|
Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Situs inversus totalis, Pu... |
ORPHA:991 |
Hereditary Central Diabetes Insipidus |
|
Growth delay, Lethargy |
ORPHA:30925 |
Chromosome 17Q12 Deletion Syndrome |
|
Long toe, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infect... |
OMIM:614527 |
Limb Body Wall Complex |
|
Encephalocele, Atrial septal defect, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia ... |
ORPHA:2369 |
Medulloblastoma |
|
Vertigo, Hydrocephalus, Cerebellar hemorrhage, Bilateral sensorineural hearing impairment, Lethar... |
ORPHA:616 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Diminished motivation, Facial palsy, Urinary inc... |
ORPHA:2356 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Penile freckling, Preaxial hand polydactyly, Foot polydactyly, Lymphoid nod... |
ORPHA:210548 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Intracranial hemorrhage, Ventricular hypertrophy, Ventricular septal defect, Nephrolithiasis |
ORPHA:369929 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Atrial septal defect, Short stature |
OMIM:619115 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Lethargy, Renal insufficiency |
ORPHA:28 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Schinzel-Giedion Syndrome |
|
Abnormality of the gingiva, Renal cyst, Tibial bowing, Anteriorly placed anus, Short philtrum, Hi... |
ORPHA:798 |
Crigler-Najjar Syndrome |
|
Lethargy, Vertigo, Hearing impairment |
ORPHA:205 |
Dohle Bodies And Leukemia |
|
Secundum atrial septal defect |
OMIM:223350 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Lethargy, Homocystinuria, Methylmalonic aciduria |
OMIM:236270 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Sensorineural hearing impairment, Optic atrophy, Hand polydactyly, Low-set ears, Abnormality of v... |
ORPHA:2971 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Dental crowding, Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Calcaneovalgus d... |
ORPHA:261537 |
Noonan Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Short stature, Postnatal growth retardation, High, narrow... |
OMIM:163950 |
Joubert Syndrome 27 |
|
Retinopathy, Polydactyly |
OMIM:617120 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Pulmonary artery sling, Ventricular septal defe... |
OMIM:235730 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Optic disc pallor, Hypospadias, Optic neuropathy, Sensorineural h... |
OMIM:252010 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Exaggerated cupid's bow, Camptodactyly of finger, Abnorma... |
ORPHA:284160 |
Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
Central Diabetes Insipidus |
|
Lethargy, Nocturia, Depression |
ORPHA:178029 |
Trichothiodystrophy 3, Photosensitive |
|
Brittle hair, Short stature, Hearing impairment, Bilateral cryptorchidism, Low-set ears, Micropht... |
OMIM:616395 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Lactose intolerance, Recurrent urinary tract infections, Ventricular s... |
OMIM:619229 |
Susac Syndrome |
|
Vertigo, Sensorineural hearing impairment, Apathy, Lethargy, Tinnitus |
ORPHA:838 |
Mowat-Wilson Syndrome |
|
Dental crowding, Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Calcaneovalgus d... |
ORPHA:2152 |
Spondylocarpotarsal Synostosis Syndrome |
|
Carpal synostosis, Epiphyseal dysplasia, Scapular winging, Short metacarpal, Bowed humerus, Tarsa... |
OMIM:272460 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short stature, Stage 5 chronic kidney disease, Short long bone, Polydactyly, Hepatic cysts, Brach... |
OMIM:613819 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cyst, Renal cell carcinoma, Large intestinal polyposis, Colon cancer |
OMIM:135150 |
Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Multicystic kidney dysplasia, Single transverse palmar crease... |
OMIM:618161 |
Hec Syndrome |
|
Communicating hydrocephalus, Abnormal retinal vascular morphology, Vaginal hydrocele, Cardiomyopa... |
ORPHA:2119 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Widely spaced teeth, Micropenis, Hypospadias, Cleft soft palate, Short stature, Tapered finger, S... |
ORPHA:268261 |
Arboleda-Tham Syndrome |
|
Secundum atrial septal defect, Downturned corners of mouth, Short philtrum, Atrial septal defect,... |
OMIM:616268 |
7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Single transverse palmar crease, Short philtrum, High palate, Atrial sept... |
ORPHA:96121 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Hypospadias, Short stature, Submucous cleft hard palate, Aortic root aneurysm, Chordee, Delayed p... |
OMIM:618891 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Atrial septal defect, Patent foramen ovale, Tricuspid regurgitation, Nephrotic syndrome, Deep pal... |
ORPHA:505248 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Exaggerated cupid's bow, Tapered finger, Cyst of the ductus choledochus, Patent ductus arteriosus... |
OMIM:619480 |
Zttk Syndrome |
|
Ventricular septal defect, Polyuria, Unilateral renal agenesis, Abnormality of the dentition, Sho... |
OMIM:617140 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Delayed proximal femoral epiphyseal ossification, Depression, Growth delay, Abnormal epiphysis mo... |
ORPHA:90674 |
Papillary Tumor Of The Pineal Region |
|
Hearing abnormality, Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Trichothiodystrophy |
|
Ridged nail, Brittle hair, Protruding ear, Macular degeneration, Fragile nails, Tiger tail bandin... |
ORPHA:33364 |
Developmental And Epileptic Encephalopathy 41 |
|
Nephrocalcinosis, Lethargy |
OMIM:617105 |
Ileal Neuroendocrine Tumor |
|
Hydronephrosis, Intestinal fistula, Tricuspid stenosis, Pulmonic stenosis |
ORPHA:100078 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Sudden cardiac death, Renal tubular acidosis, Arrhythmia, Lethargy, Hypertrophic cardiomyopathy |
ORPHA:156 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Postaxial polydactyly, Cryptorchidism, Synophrys, Sensorineural hearing impairment, Proximal rena... |
OMIM:615824 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Ventricular septa... |
OMIM:243150 |
Alveolar Echinococcosis |
|
Abnormal pelvis bone morphology, Abnormal pericardium morphology, Pancreatic cysts, Renal cyst, A... |
ORPHA:284 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect, Short stature |
OMIM:618325 |
Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, High, narrow palate, Anteriorly placed anus, Oligodontia, Atrial septal de... |
OMIM:612289 |
Tbck-Related Intellectual Disability Syndrome |
|
Broad toe, Neurogenic bladder, Tented upper lip vermilion, Ventricular septal defect, High, narro... |
ORPHA:488632 |
Ohdo Syndrome, Sbbys Variant |
|
Thin upper lip vermilion, Hypospadias, Dilated cardiomyopathy, Cleft palate, Microdontia, Long th... |
OMIM:603736 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Bicuspid aortic valve, Patent ductus arteriosus, Thick lower lip vermilion, Narrow palate, Mitral... |
ORPHA:555877 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Short stature, Unilateral renal agenesis, Patent ductus arteriosus, Co... |
OMIM:620024 |
Myopathy With Extrapyramidal Signs |
|
Growth delay, Tented upper lip vermilion, Ventricular septal defect |
OMIM:615673 |
Autosomal Recessive Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Esophageal varix, Olig... |
ORPHA:731 |
Hardikar Syndrome |
|
Vesicoureteral reflux, Atrial septal defect, Bladder exstrophy, Patent foramen ovale, Short statu... |
OMIM:301068 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Hypospadias, Bilateral cryptorchidism, Preaxial hand polydactyly, Postnatal ... |
ORPHA:96179 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Optic atrophy, Low-set ears, Hypertrichosis |
OMIM:612379 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Bicuspid aortic valve, Hydrocephalus, Aortic valve stenosis |
OMIM:615599 |
Congenital Tricuspid Stenosis |
|
Tricuspid stenosis, Bacterial endocarditis |
ORPHA:95459 |
Ohdo Syndrome, X-Linked |
|
Ulnar deviation of the hand, Overlapping toe, Hiatus hernia, Short thumb, Clinodactyly, Long thum... |
OMIM:300895 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Thin upper lip vermilion, Ventricular septal defect, Exaggerated cupid's bow, Optic disc hypoplas... |
OMIM:619306 |
Gorlin Syndrome |
|
Arachnodactyly, Palmar pits, Cryptorchidism, Hydrocephalus, Brachydactyly |
ORPHA:377 |
Hypercalcemia, Infantile, 1 |
|
Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Lethargy, Medullary nephrocalcinosis |
OMIM:143880 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, 2-ethylhydracylic aciduria |
OMIM:610006 |
Orofaciodigital Syndrome Type 14 |
|
Ventricular septal defect, Broad hallux, Accessory oral frenulum, Hamartoma of tongue, Deviation ... |
ORPHA:434179 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Low-set ears... |
OMIM:607131 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Short stature, Small hand, Short foo... |
ORPHA:2714 |
Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Gingival fibromatosis, Renal cyst, Cardiac rha... |
OMIM:613254 |
Frontofacionasal Dysplasia |
|
Encephalocele, Short stature, Microphthalmia, Absent inner eyelashes, Aplasia/Hypoplasia of the e... |
ORPHA:1791 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... |
ORPHA:93259 |
Myoclonic-Astatic Epilepsy |
|
Thin upper lip vermilion, Syndactyly, Thick lower lip vermilion, Wide mouth, Long philtrum, Micro... |
ORPHA:1942 |
N-Acetylglutamate Synthase Deficiency |
|
Lethargy |
OMIM:237310 |
Legius Syndrome |
|
Short stature, Nephrolithiasis, Mitral valve prolapse, Diaphyseal dysplasia, Male urethral meatus... |
ORPHA:137605 |
Esophageal Atresia |
|
Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Renal agenesis, Cleft lip, ... |
ORPHA:1199 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Hydrocephalus, Se... |
ORPHA:87 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Broad hallux, Sandal gap, Persistence of primary teeth, Conical tooth, Clinodactyly, Dental maloc... |
OMIM:618727 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Arachnodactyly, Pulmonic stenosis |
OMIM:617600 |
Cranioectodermal Dysplasia 3 |
|
Short stature, Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, Stage 5 chronic... |
OMIM:614099 |
X-Linked Intellectual Disability, Armfield Type |
|
Short stature, Patent ductus arteriosus, Abnormality of the elbow, Small hand, Cleft palate, Down... |
ORPHA:85276 |
Craniotubular Dysplasia, Ikegawa Type |
|
Short palm, Metaphyseal dysplasia, Ventricular septal defect, Short stature, Thick lower lip verm... |
OMIM:619727 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Hunter-Macdonald Syndrome |
|
Thin upper lip vermilion, Epiphyseal dysplasia, Bicuspid aortic valve, Hypospadias, Short stature... |
OMIM:611962 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micromelia, High, narrow palate, Abnormality of the gingiva, Oro... |
ORPHA:2753 |
Aymé-Gripp Syndrome |
|
Clinodactyly of the 5th finger, Short stature, Tapered finger, Pericardial effusion, Cryptorchidi... |
ORPHA:1272 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Overlapping toe, Tapered finger, Arteria lusoria, 2-3 toe syndactyly, Anteriorly placed anus, Hig... |
OMIM:618653 |
Brain-Lung-Thyroid Syndrome |
|
Ventricular septal defect, Hypospadias, Short stature, Megacystis, Vesicoureteral reflux, Growth ... |
ORPHA:209905 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Thickened helices, Protruding ... |
ORPHA:1587 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Cerebral ischemia |
ORPHA:927 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Metaphyseal widening, Hydrocephalus, Optic atrophy, Diaphyseal sclerosis, Long ... |
OMIM:618476 |
Adnp Syndrome |
|
Single transverse palmar crease, Urinary incontinence, Abnormal finger morphology, Protruding ear... |
ORPHA:404448 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal dental morphology, Abnormal heart valve morphology, Abnormal pulmonary valve morphology,... |
ORPHA:217085 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Finger syndactyly, Ventricular septal defect, Aortopulmonary collateral arteries, Optic nerve hyp... |
OMIM:620025 |
Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia |
ORPHA:2717 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Bipolar affective disorder, Ventricular arrhythmia, Facial palsy, Atrial fibrillation, Dilated ca... |
ORPHA:254892 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Coarctation of aorta, Anteriorly placed anus, H... |
OMIM:618748 |
Osteopetrosis, Autosomal Recessive 1 |
|
Femur fracture, Facial palsy, Hydrocephalus, Optic atrophy, Flared metaphysis, Coxa vara, Facial ... |
OMIM:259700 |
Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Premature graying of hair, Short palm, Sparse hair, Absent eyebrow, A... |
OMIM:268400 |
Osteopetrosis, Autosomal Recessive 2 |
|
Cranial nerve compression, Hydrocephalus, Optic atrophy, Diaphyseal sclerosis, Genu valgum, Facia... |
OMIM:259710 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Holoprosencephaly, Semilobar holoprosencephaly |
ORPHA:556955 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Arachnodactyly, Short stature, Hydrocephalus, White hair, Ocular albinism, Abnormal hip bone morp... |
ORPHA:2720 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Synophrys, Hydrocephalus, Growth delay, Colpocephaly, Low-set ears, Ventriculomegaly, Brachydactyly |
OMIM:620156 |
Achondroplasia |
|
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Hydrocep... |
OMIM:100800 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Short stature, Decreased nerve conduction velocity, Sensorineural hearing impairment, Methylmalon... |
ORPHA:1933 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Ventriculomegaly, Sandal gap, Supernumerary nipple, Cryptorchidism, Hydrocep... |
ORPHA:1812 |
Pitt-Hopkins-Like Syndrome 2 |
|
Wide mouth, Pulmonic stenosis, Protruding tongue |
OMIM:614325 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Bilateral talipes equinovarus |
OMIM:616521 |
Rabin-Pappas Syndrome |
|
Retinal detachment, Optic nerve hypoplasia, Highly arched eyebrow, Retinal telangiectasia, Hydroc... |
OMIM:620155 |
Holoprosencephaly 1 |
|
Median cleft lip and palate, Short stature, Microphthalmia, Micropenis, Single ventricle |
OMIM:236100 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Dicarboxylic aciduria, Sudden cardiac death, Exercise-induced myoglobinuria, Cardiomegaly, Reduce... |
OMIM:201475 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Bowed forearm bones, Ureteral duplication, Absent thumb, Absent radius, Ectopic kidney, Hydroceph... |
OMIM:602200 |
Holocarboxylase Synthetase Deficiency |
|
Growth delay, Lethargy, Alopecia, Organic aciduria |
ORPHA:79242 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Ventricular septal defect, Growth delay, High palate, Talipes equinovarus, Hand clenching, Intrau... |
OMIM:614653 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Ventricular septal defect, Increased fibular diameter, Pulmonary arter... |
OMIM:258315 |
H Syndrome |
|
Hallux valgus, Abnormal eyebrow morphology, Alopecia, Short stature, Hearing impairment, Hydrocep... |
ORPHA:168569 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal dental morphology, Abnormal heart valve morphology, Abnormal pulmonary valve morphology,... |
ORPHA:217093 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Rectal prolapse, Nephrocalcinosis, Atrial septal defect, Microdontia, Vesi... |
OMIM:194050 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus, Sandal gap, Low-set ears, Brachydactyly |
ORPHA:2180 |
Trichinellosis |
|
Facial palsy, Abnormal cerebrospinal fluid morphology, Vertigo, Retinal hemorrhage, Central retin... |
ORPHA:863 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib... |
OMIM:114290 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar... |
ORPHA:97214 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Duplicated collecting system, Ventricular septal defect, Short stature, Deep palmar crease, High ... |
OMIM:607721 |
Carnitine Palmitoyltransferase I Deficiency |
|
Dicarboxylic aciduria, Cardiomegaly, Renal tubular acidosis, Lethargy, Arrhythmia |
OMIM:255120 |
Bardet-Biedl Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Postaxial ha... |
ORPHA:110 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Dental crowding, Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Calcaneovalgus d... |
ORPHA:261552 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Atrial septal defect, Congenital hip dislocation, Retinal dystrophy, Posteriorly rotated ears, Aq... |
OMIM:619512 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Palmoplantar hyperkeratosis, High palate, Short philtrum, Patent foramen ovale, Short stature, De... |
OMIM:619127 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Medial calcification of large arteries, Premature occlusive vascular stenosis, Cerebral hemorrhag... |
OMIM:177850 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Severe short stature, Rhizomelia, Urinary incontinence, Congestive heart failure, Hydrocephalus, ... |
OMIM:616482 |
Isovaleric Acidemia |
|
Lethargy, Cerebellar hemorrhage, Hyperglycinuria |
OMIM:243500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Retinal dystrophy, Hydrocephalus, Buphthalmos, Microphthalmia, Ventriculomegaly |
OMIM:616538 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Ventricular septal defect, Pericardial effusion, Dilated card... |
ORPHA:26793 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Anal stenosis, Multicystic kidney dysplasia, Ventricu... |
OMIM:606170 |
Vici Syndrome |
|
Everted upper lip vermilion, Median cleft lip, Cleft upper lip, Postnatal growth retardation, Dil... |
OMIM:242840 |
Meester-Loeys Syndrome |
|
Short stature, Arachnodactyly, Gingival overgrowth, Mitral valve prolapse, Ascending tubular aort... |
OMIM:300989 |
Canavan Disease |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy, Hear... |
ORPHA:141 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Dental malocclusion, Ren... |
OMIM:615560 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Congenital hip dislocation, Abnormal periodontium morphology, High palate, Atrial septal defect, ... |
ORPHA:480880 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Atrial septal defect, Macroglossia, Growth delay, Short stature |
ORPHA:93947 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... |
OMIM:613795 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Posteriorly rotated ears, Hydrocephalus, Optic atrophy, Right bundle branch block, Slender long b... |
OMIM:618590 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... |
OMIM:612098 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Abnormality of the kidney, Abnormal stomach morphology, Ascending aort... |
ORPHA:141127 |
Dubowitz Syndrome |
|
Syndactyly, Sparse scalp hair, Hypospadias, Single transverse palmar crease, Short stature, Postn... |
OMIM:223370 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Short stature, Nephrocalcinosis, Distal renal tubular acidosis, Lethargy |
OMIM:611590 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Short stature, Facial palsy, Hydrocephalus, Optic atrophy, Flared metaphysis, ... |
OMIM:259720 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Absent thumb, Absent radius, Esophageal atresia, Tracheoesophageal fis... |
OMIM:614083 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Short stature, Overlapping toe, Unilateral renal agenesi... |
OMIM:213980 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hyperglycorr... |
ORPHA:90065 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Thick eyebrow, Congenital hip dislocation, Short stature, Telangiectasia of the skin, Tapered fin... |
OMIM:616007 |
Hemangioblastoma |
|
Vertigo, Retinal capillary hemangioma, Hydrocephalus, Neurogenic bladder |
ORPHA:252054 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Calcaneovalgus deformity, Protruding ear, Vesicourete... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Calcaneovalgus deformity, Protruding ear, Vesicourete... |
ORPHA:363958 |
Mirage Syndrome |
|
Hypospadias, Rocker bottom foot, Short stature, Radial club hand, Cryptorchidism, Hydrocephalus, ... |
OMIM:617053 |
Peho Syndrome |
|
Tapered finger, External ear malformation, Hydrocephalus, Optic atrophy, Macrotia, Ventriculomegaly |
ORPHA:2836 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Sparse eyebrow, Widow's peak, Cupped ear, Low-set ears, Clinodactyly of the 5th finger, Microphth... |
OMIM:167730 |
Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis of the small joints of the hand, Arterial dissection, Arachnodactyly, Protrusio ac... |
ORPHA:284984 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Sparse eyebrow, Abnormal eyelash morphology, Widow's peak, Bilateral microphthalmos, Abnormality ... |
ORPHA:2399 |
Pseudoxanthoma Elasticum |
|
Accelerated atherosclerosis, Renovascular hypertension, Mitral valve prolapse, White oral mucosal... |
OMIM:264800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Hydrocephalus, Optic atrophy, Pigmentary retinopathy, Lateral ventricle dilatat... |
OMIM:613154 |
Biotinidase Deficiency |
|
Alopecia, Sensorineural hearing impairment, Optic atrophy, Organic aciduria, Lethargy |
OMIM:253260 |
Cockayne Syndrome Type 3 |
|
Renal insufficiency, Neurogenic bladder, Hydroureter, Mild postnatal growth retardation, Unilater... |
ORPHA:90324 |
Caroli Disease |
|
Esophageal varix, Polycystic kidney dysplasia |
ORPHA:53035 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubulointerstitial... |
OMIM:251000 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Thin upper lip vermilion, Toe syndactyly, Ventricular septal defect, Hypospadias, Single transver... |
ORPHA:459070 |
Evans Syndrome |
|
Lethargy, Syncope, Epistaxis |
ORPHA:1959 |
Restrictive Dermopathy |
|
Ureteral duplication, Atrial septal defect, Hypospadias, Camptodactyly of finger, Short nail, Dex... |
ORPHA:1662 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Alopecia, Atrial septal defect, Left ventricular hypertrophy... |
ORPHA:79330 |
Manitoba Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia |
OMIM:248450 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Papilledema, Hydrocephalus |
OMIM:260500 |
Oculocerebrorenal Syndrome Of Lowe |
|
Dental crowding, Deep philtrum, Gingivitis, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, ... |
ORPHA:534 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Mild short stature, Short stature, Optic nerve hypoplasia |
OMIM:614833 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Patent ductus arteriosus, ... |
ORPHA:96191 |
Insulinoma |
|
Hearing abnormality, Palpitations, Lethargy |
ORPHA:97279 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Kabuki Syndrome 1 |
|
Congenital hip dislocation, High palate, Prominent fingertip pads, Atrial septal defect, Micropen... |
OMIM:147920 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Histiocytoid cardiomyopathy, Microphthalmia, Dilated cardiomyopathy, Delayed eruption of primary ... |
OMIM:300952 |
17Q24.2 Microdeletion Syndrome |
|
Thin upper lip vermilion, Abnormality of the wrist, Patent ductus arteriosus after birth at term,... |
ORPHA:529962 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Short stature, Paronychia, Lethargy, Alopecia of scalp, Decreased testicular size |
OMIM:201100 |
Trichohepatoneurodevelopmental Syndrome |
|
Dental crowding, Ventricular septal defect, Overlapping toe, Short foot, Patent ductus arteriosus... |
OMIM:618268 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Hypotension, Lethargy |
ORPHA:99828 |
Houge-Janssens Syndrome 1 |
|
Intrauterine growth retardation, Hydrocephalus, Congenital hip dislocation, Ventriculomegaly |
OMIM:616355 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Optic nerve hypoplasia, Metatarsus adductus, Postnatal growth retardation, Sensorineural hearing ... |
ORPHA:300570 |
Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Trichoschisis, Short stature, Fine hair, Protruding ear, Telangiectasia, Fragile na... |
OMIM:601675 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft palate, Vesico... |
ORPHA:107 |
Nasu-Hakola Disease |
|
Hydrocephalus, Abnormal epiphysis morphology, Ventriculomegaly |
ORPHA:2770 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Halperin-Birk Syndrome |
|
Umbilical hernia, Semilobar holoprosencephaly |
OMIM:618651 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Short stature, Patent ductus ar... |
ORPHA:444077 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Overlapping toe, Hypospadias, Posteriorly rotated ears, Hydrocephalus, Optic atrophy, Hypertensio... |
OMIM:123790 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Unilateral renal agenesis, Abnormal ... |
ORPHA:457284 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus, Partial an... |
ORPHA:95430 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bil... |
OMIM:119800 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Retinal dystrophy, Optic nerve hypoplasia, Short stature, Hydrocephalus, Optic atrophy,... |
OMIM:619321 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Retinal dystrophy, Macular atrophy, Buphthalmos, Chorioretinal coloboma, Micr... |
OMIM:212550 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hallux valgus, Bowing of the long bones, Mixed hearing impairment, Arachnodactyly, Phalangeal dis... |
ORPHA:536467 |
Acrofrontofacionasal Dysostosis 1 |
|
Short metacarpal, Mixed hearing impairment, Short stature, Long eyebrows, Widow's peak, Optic atr... |
OMIM:201180 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Dilated cardiomyopathy, Bilateral sensorineural hearing impairment, Left ventricular... |
OMIM:618321 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Arachnodactyly, Posteriorly rotated ears, Abnormal pinna morphology, Metatarsus adductus, Cryptor... |
OMIM:182212 |
Peutz-Jeghers Syndrome |
|
Intestinal obstruction, Esophageal neoplasm, Enlarged polycystic ovaries, Rectal prolapse, Abnorm... |
ORPHA:2869 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Low-set, posteriorly rotated ears, 2-5 finger syndactyly, Optic disc pallor, Severe short stature... |
ORPHA:468631 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ... |
ORPHA:3312 |
Familial Hypoaldosteronism |
|
Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Hypovolemia, Proximal r... |
ORPHA:427 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Increased density of long bones, Single transverse p... |
OMIM:269150 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Short stature... |
OMIM:619539 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Long toe, Bicuspid aortic valve, Short stature, Secundum atrial septal defect, Postnatal growth r... |
OMIM:613355 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Thumb contracture, Hydrocephalus, Adducted thumb |
OMIM:307000 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect, Short stature, Metaphyseal widening, Phthisis bulbi, Tibial bowing, Mi... |
OMIM:259770 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Short stature, Cryptorchidism, Hydrocephalus, Small hand, Short foot, Hip dysplasia, Micropenis, ... |
ORPHA:500055 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia, Ventriculomeg... |
OMIM:615287 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Hypertrophic cardio... |
ORPHA:96 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Hydranencephaly, Intrauterine growth retardation, Dandy-Walker malformation, Ventr... |
OMIM:225790 |
Pfeiffer Syndrome |
|
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... |
OMIM:101600 |
Scrub Typhus |
|
Myocarditis, Lethargy, Renal insufficiency, Hypotension |
ORPHA:83317 |
Keutel Syndrome |
|
Ventricular septal defect, Short hallux, Premature fusion of phalangeal epiphyses, Deep philtrum,... |
OMIM:245150 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Short metatarsal, Palmoplantar hyper... |
OMIM:216340 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Postaxial hand polydactyly, Cystic renal dysplasia, Postaxial foot polydactyly, Poly... |
OMIM:615989 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Delayed proximal femoral epiphyseal ossification, Bradycardia, Abnormal epiphysis morphology, Umb... |
ORPHA:90673 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Dilated cardiomyopathy, Perianal ... |
OMIM:619573 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormality of the hand, Optic neuropathy, Abnormal retinal vascular morpholog... |
ORPHA:909 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Renal insufficiency, Ventricular septal defect, Short st... |
OMIM:218040 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Abnormal tricuspid valve morphology, Conductive hearing impairment, ... |
ORPHA:580 |
Fraser Syndrome 2 |
|
Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Rectal atresia, Renal hypoplas... |
OMIM:617666 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture, Sparse eyeb... |
ORPHA:2108 |
Joubert Syndrome 1 |
|
Protruding tongue, Postaxial hand polydactyly, Renal cyst, Postaxial foot polydactyly, Macrogloss... |
OMIM:213300 |
Posterior Urethral Valve |
|
Renal insufficiency, Urinary incontinence, Dysuria, Postnatal growth retardation, Urethral stenos... |
ORPHA:93110 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Tented upper lip vermilion, Single transverse palmar crease, Deep philtrum, Abnormal aortic arch ... |
ORPHA:96334 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Low-set ears, Microphthalmia, Macrotia |
OMIM:615145 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Xeroderma Pigmentosum, Complementation Group B |
|
Short stature, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrop... |
OMIM:610651 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Ta... |
OMIM:601455 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Aganglionic megacolon, Tapered finger, Intraventricular hemorrhage, Hydrocephalus, Hydrocele test... |
OMIM:613603 |
Ramos-Arroyo Syndrome |
|
Severe short stature, Aganglionic megacolon, Carious teeth, Patent ductus arteriosus, Xerostomia,... |
ORPHA:1051 |
Au-Kline Syndrome |
|
Overlapping toe, Postaxial polydactyly, Coxa valga, Supernumerary nipple, Cryptorchidism, Sensori... |
OMIM:616580 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Abnormal pulmonary valve morphology, Abnormality of hair texture, Hydro... |
ORPHA:667 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
Frontonasal Dysplasia 3 |
|
Microphthalmia, Cleft palate |
OMIM:613456 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Proteinuria, Renal Fanconi syndrome, Glycosuria, Lethargy |
ORPHA:263455 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, P... |
ORPHA:2462 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Short fourth metatarsal, Septo-optic dysplasia, Single transverse pa... |
OMIM:619841 |
Momo Syndrome |
|
Delayed eruption of teeth, Short stature, Thick lower lip vermilion, Dental malocclusion, Bilater... |
ORPHA:2563 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Umbilical hernia, Hearing ... |
OMIM:601499 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Infla... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Infla... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Infla... |
ORPHA:99226 |
Turner Syndrome |
|
Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Infla... |
ORPHA:881 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Dental crowding, High, narrow palate, High palate, Smooth philtrum |
ORPHA:2789 |
Infantile Liver Failure Syndrome 2 |
|
Lethargy, Cardiomyopathy |
OMIM:616483 |
Ctcf-Related Neurodevelopmental Disorder |
|
Thin upper lip vermilion, Atrial septal defect, Prominent fingertip pads, Broad hallux phalanx, S... |
ORPHA:363611 |
Witteveen-Kolk Syndrome |
|
Glue ear, Proximal placement of thumb, Uplifted earlobe, Clinodactyly, Protruding ear, Intracrani... |
OMIM:613406 |
Necrotizing Enterocolitis |
|
Shock, Abnormal heart morphology, Bradycardia, Hypotension, Lethargy |
ORPHA:391673 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Lateral ventricular asymmetry, Arachno... |
OMIM:616914 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Pearson Syndrome |
|
Renal insufficiency, Proteinuria, Postnatal growth retardation, Lacticaciduria, Renal cyst, Abnor... |
ORPHA:699 |
Alexander Disease Type I |
|
Hydrocephalus |
ORPHA:363717 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Short stature, Ventricular septal defect, Single transverse palmar crease, Small hand, Ventricula... |
OMIM:614947 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Ureteropelvic junction obstruction, Exaggerated cupid's bow, Vesicovaginal fistula, Fused teeth, ... |
OMIM:300896 |
Kinsship Syndrome |
|
Thin upper lip vermilion, Short stature, Single transverse palmar crease, Coxa valga, Thick lower... |
OMIM:619297 |
Developmental And Epileptic Encephalopathy 49 |
|
Thick eyebrow, Ventriculomegaly, Hydrocephalus, Optic atrophy, Long eyelashes, Macrotia, Dandy-Wa... |
OMIM:617281 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction velocity, Optic atrop... |
ORPHA:485421 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Ventricular tachycardia, Oliguria, Cardiomyopathy, Hypotension, Lethargy, ... |
ORPHA:159 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Pulmonary embolism, Abnormal retinal vascular mo... |
ORPHA:3205 |
Desmosterolosis |
|
Low-set, posteriorly rotated ears, Severe short stature, Micromelia, Metatarsus adductus, Hydroce... |
ORPHA:35107 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Bilateral microphthalmos, Cleft palate, Abnormal heart morphology, Wide mouth,... |
OMIM:154500 |
Pettigrew Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Sensorineural hearing impairment, Optic atrophy, Dandy-Walker... |
OMIM:304340 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hypoplastic philtrum, Hia... |
OMIM:616682 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Conductive hearing impairment, Spina bifida occulta,... |
OMIM:218600 |
Citrullinemia Type I |
|
Lethargy |
ORPHA:247525 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Postnatal growth retardation, Renal cyst, Steatorrhea, Fat malabsorption |
ORPHA:79303 |
Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Sensorineural hearing impairment, Hypermyelinated retinal nerve fibers, Palmoplant... |
OMIM:601812 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Congenital hip dislocation, Single transverse palmar crease, Renal cy... |
OMIM:601803 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Thin upper lip vermilion, Hypospadias, Abnormality of canine, Tapered finger, Short thumb, Chorde... |
ORPHA:477993 |
Holoprosencephaly 2 |
|
Microphthalmia, Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly |
OMIM:157170 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death, Lethargy |
OMIM:618232 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Short stature, Conductive hearing impairment, Limb undergrowth, Abno... |
ORPHA:1861 |
Osteogenesis Imperfecta, Type I |
|
Femoral bowing, Mitral valve prolapse, Hip dysplasia, Finger joint hypermobility, Dentinogenesis ... |
OMIM:166200 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Prominent fingertip pads, Optic atrophy, Low anterior hairline, Abnormality of visual evoked pote... |
OMIM:616875 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Bowing of the long bones, Congenital hip dislocation, Hydrocephalus, Protruding ear, Intrauterine... |
OMIM:612940 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing... |
OMIM:268305 |
Nance-Horan Syndrome |
|
Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Microphthalmia, Screwdri... |
OMIM:302350 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Brittle hair, Sensorineural hearing impairment, Nephrocalcinosis, Gr... |
OMIM:616084 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Small hand, Optic a... |
ORPHA:50 |
Holoprosencephaly 3 |
|
Holoprosencephaly |
OMIM:142945 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Finger syndactyly, Hypoplastic fingernail, Severe short stature, Hypos... |
ORPHA:2658 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Heart block, Hydrocephalus, Dilated cardiomyopathy, Atrioventricular block... |
ORPHA:398124 |
Acquired Von Willebrand Syndrome |
|
Gastrointestinal angiodysplasia, Intracranial hemorrhage, Hematuria, Pulmonic stenosis, Aortic va... |
ORPHA:99147 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Lethargy, Ketonuria, Short stature, Glycosuria |
ORPHA:2089 |
Joubert Syndrome 23 |
|
Sensorineural hearing impairment, Polydactyly |
OMIM:616490 |
Craniopharyngioma |
|
Papilledema, Proportionate short stature, Myocardial infarction, Postnatal growth retardation, Hy... |
ORPHA:54595 |
Caroli Syndrome |
|
Esophageal varix, Abnormality of the kidney, Polycystic kidney dysplasia |
ORPHA:480520 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Atrial septal defect, Hip contracture, Bilateral fetal pyelectasis,... |
OMIM:300868 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ... |
OMIM:165590 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Cockayne Syndrome |
|
Dry hair, Urinary incontinence, Retinal arteriolar constriction, Retinal degeneration, Retinal at... |
ORPHA:191 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Hypospadias, Short stature, Uplifted earlobe, Tapered finger, Posteriorly rotated ears, Long fing... |
OMIM:616734 |
Isolated Exencephaly |
|
Holoprosencephaly |
ORPHA:563612 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormality of visual evoked potentials, Postaxial hand polydactyly, Short stature |
ORPHA:1389 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Ventricular septal defect, Short stature, High, narrow palate, Renal tubular acidosis, Short phil... |
OMIM:619575 |
Rodrigues Blindness |
|
Short stature, Protruding ear, Fine hair, Sparse hair, Microphthalmia |
OMIM:268320 |
Fraser Syndrome 3 |
|
Hypoplasia of penis, Short toe, Hydrocephalus, Cutaneous syndactyly, Ureteral agenesis, Stillbirt... |
OMIM:617667 |
Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect, Cleft palate, Ureterocele, Broad finger, Short finger, Micropenis, Ren... |
ORPHA:1934 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Peripheral pulmonary artery stenosis, Sandal gap, Single transverse palmar crease, Pyloric stenos... |
OMIM:613177 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Short ... |
ORPHA:93325 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia/aplasia, Abno... |
ORPHA:2973 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Hypoplasia of penis, Absent eyelashes, Cryptorchidism, Abnormal... |
ORPHA:861 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Ventricular septal defect, Metatarsus adductus, Absent cupid's bow, ... |
ORPHA:513456 |
Coccidioidomycosis |
|
Renal insufficiency, Pericarditis, Abnormal retinal morphology, CSF pleocytosis, Hydrocephalus, V... |
ORPHA:228123 |
Mgat2-Cdg |
|
Ventricular septal defect, Dental crowding, Patent ductus arteriosus, Abnormal heart morphology, ... |
ORPHA:79329 |
C Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Short stature, Bilateral single transverse palmar c... |
ORPHA:1308 |
Ring Chromosome 7 Syndrome |
|
Hypospadias, Short stature, Single transverse palmar crease, Situs inversus totalis, Slender fing... |
ORPHA:1449 |
Raine Syndrome |
|
Bowing of the long bones, Hydroureter, Short stature, Mixed hearing impairment, Highly arched eye... |
OMIM:259775 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Ventriculomegaly, Posteriorly rotated ears, Rocker bottom foot, Single transverse palmar crease, ... |
OMIM:617527 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610978 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Lethargy, Hypotension |
ORPHA:36238 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Lethargy, Facial palsy |
OMIM:607483 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Secundum atrial septal defect, Metaphyseal widening, Subarterial ventricular septal defect, D-2-h... |
ORPHA:99646 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hydrocephalus |
ORPHA:398189 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Narrow mouth, Long fingers, Cleft palate, High palate, Long philtrum, Microphthalmia |
OMIM:156610 |
Norrie Disease |
|
Retinal detachment, Sensorineural hearing impairment, Optic atrophy, Hypoplasia of the iris, Buph... |
OMIM:310600 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Short stature, Partial duplic... |
OMIM:101400 |
B4Galt1-Cdg |
|
Low-set ears, Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
Tenorio Syndrome |
|
Thick eyebrow, Raynaud phenomenon, Hydrocephalus, Enuresis, Syncope, Ventriculomegaly, Hypertrich... |
OMIM:616260 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... |
ORPHA:480536 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Ventriculomegaly, Retinal atrophy, Hydrocephalus, Optic atrophy, Buphthalmos, Hypoplasia of the r... |
OMIM:253280 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... |
ORPHA:637 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos, Optic atrophy, Facial palsy |
OMIM:615085 |
Coffin-Siris Syndrome 12 |
|
Synophrys, Low anterior hairline, Protruding ear, Patent foramen ovale, Simple ear, Hypospadias, ... |
OMIM:619325 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrophy, Hear... |
OMIM:256600 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen... |
OMIM:601152 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Buphthalmos, Microphthalmia, Ventriculomegaly |
OMIM:613150 |
Pancreatic And Cerebellar Agenesis |
|
Secundum atrial septal defect, Severe intrauterine growth retardation, Overlapping fingers, Optic... |
OMIM:609069 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Oculoectodermal Syndrome |
|
Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta, Growth delay, Atrial s... |
OMIM:600268 |
Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Pancreatic cysts, Myocarditis, Cardiomyopathy, Renal cell c... |
ORPHA:892 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Abnormal pinna morphology, Optic atrophy, Low anterior hairline, Prominent fingertip pads, Abnorm... |
ORPHA:480898 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
Leigh Syndrome |
|
Ventricular septal defect, Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Ren... |
ORPHA:506 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Tricuspid regurgitation, Synophrys, Normal pressure hydrocepha... |
OMIM:620351 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, Cardiac arrest, Dilated cardiomyopathy, 3-Methylglutaric aciduria, Apathy, Hypotension... |
ORPHA:20 |
Cole-Carpenter Syndrome 2 |
|
Postnatal growth retardation, Hydrocephalus, Narrow iliac wing, Short stature |
OMIM:616294 |
Proximal Spinal Muscular Atrophy |
|
Hip dislocation, Elbow flexion contracture, Distal upper limb muscle weakness, Tongue fasciculati... |
ORPHA:70 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Pituitary dwarfism, Optic nerve hypoplasia, Growth delay, Polydactyly, Abn... |
ORPHA:95494 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Short stature, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Ne... |
ORPHA:18 |
Cholera |
|
Tachycardia, Abnormality of renal excretion, Hypovolemic shock, Hypotension, Palmoplantar cutis l... |
ORPHA:173 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Urinary incontinence, Lacunar stroke, Abnormality of visual evoked potentials, Nonarteritic anter... |
OMIM:125310 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Unilateral renal agenesis, Shor... |
OMIM:308205 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormality of visual evok... |
ORPHA:320401 |
Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Hydrocephalus, Pericarditis |
ORPHA:163596 |
Hartsfield Syndrome |
|
Semilobar holoprosencephaly, Lobar holoprosencephaly, Alobar holoprosencephaly |
OMIM:615465 |
Glutaric Acidemia Type 3 |
|
Glutaric aciduria, Ketonuria, Lethargy |
ORPHA:35706 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormal fingernail morphology, Short stature, Fine hair, Protruding ear, Sparse hair, Microphtha... |
ORPHA:1806 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Tricuspid regurgitation, Mitral valve prolapse, Pulmonary arterial hypertension, Recurrent otitis... |
OMIM:620233 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, Hydrocephalus... |
OMIM:261740 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... |
OMIM:618195 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Watson Syndrome |
|
Short stature, Pulmonic stenosis |
OMIM:193520 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Optic disc pallor, Mixed hearing impairment, Aortic regurgitation, H... |
ORPHA:309282 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Posteriorly rotated ears, Short stature, Congenital sensorineural hearing impairment, Clinodactyl... |
OMIM:617306 |
Lymphatic Malformation 7 |
|
Pericardial effusion, Varicose veins, Atrial septal defect |
OMIM:617300 |
Encephalitis Lethargica |
|
Lethargy, Bradycardia, Increased CSF protein concentration, Urinary incontinence |
ORPHA:83600 |
Crouzon Syndrome |
|
Conductive hearing impairment, Hydrocephalus, Optic atrophy, Atresia of the external auditory canal |
OMIM:123500 |
Radial Aplasia, X-Linked |
|
Absent radius, Hydrocephalus, Penile hypospadias |
OMIM:312190 |
Neurofibromatosis-Noonan Syndrome |
|
Short stature, Secundum atrial septal defect, Thick vermilion border, Pulmonic stenosis, Cubitus ... |
OMIM:601321 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Hip dislocation, Micropenis, Ascending tubular aorta aneurysm, Hip dyspl... |
OMIM:617403 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Facial palsy, Abnormal cerebrospinal fluid morphology, CSF lymphocytic pleio... |
ORPHA:68 |
Lymphatic Malformation 13 |
|
Patent ductus arteriosus, Long philtrum, Atrial septal defect, Patent foramen ovale, Smooth philtrum |
OMIM:620244 |
Monosomy 9P |
|
Hypospadias, Thin nail, Proximal placement of thumb, Highly arched eyebrow, Abnormality of the ta... |
ORPHA:261112 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Hydrocephalus, Dep... |
ORPHA:3452 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Short stature, Deep philtrum, Anomalous origin ... |
ORPHA:438213 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Lethargy, Decreased CSF homovanillic acid concentration, Hypotension |
OMIM:608643 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Short palm, Hypoplasia of penis, Urethrovaginal fistula, Cleft upper lip, Micromelia, Esophageal ... |
ORPHA:93271 |
Mody |
|
Abnormality of the kidney, Renal cyst, Glycosuria, Nephropathy, Intrauterine growth retardation |
ORPHA:552 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Chylopericardium, Hematuria, Multiple renal cysts, Renal ... |
ORPHA:538 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Lethargy, Medium chain dicarboxylic aciduria, Hyperglycinuria |
OMIM:201450 |
Friedreich Ataxia |
|
Abnormal EKG, Congestive heart failure, Optic atrophy, Abnormality of visual evoked potentials, H... |
OMIM:229300 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Downturned corners of mouth, Short philtrum, Atrial septal defect, Bifid uvula, Arachnodactyly, I... |
ORPHA:500150 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyisovaleric a... |
OMIM:253270 |
Gaucher Disease |
|
Ventriculomegaly, Mitral valve calcification, Proteinuria, Short stature, Abnormal pericardium mo... |
ORPHA:355 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Ulnar deviation of the hand, Posteriorly rotated ears, Rocker bottom foot, Campt... |
OMIM:208150 |
Citrullinemia Type Ii |
|
Enuresis, Delayed menarche, Mania, Lethargy |
ORPHA:247585 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Glutaric aciduria, Vertigo, Chronic kidney disease, Subdural hemorrh... |
ORPHA:25 |
D-Bifunctional Protein Deficiency |
|
Split hand, Renal cyst, Hammertoe, High palate, Talipes equinovarus, Long philtrum |
OMIM:261515 |
Genetic Transient Congenital Hypothyroidism |
|
Umbilical hernia, Lethargy |
ORPHA:226316 |
Neuroendocrine Neoplasm Of Appendix |
|
Mechanical ileus, Tricuspid stenosis, Midgut malrotation, Adenocarcinoma of the colon, Ileal aden... |
ORPHA:100079 |
Osteopetrosis, Autosomal Recessive 7 |
|
Femur fracture, Hydrocephalus, Optic atrophy, Growth delay, Lateral ventricle dilatation, Optic n... |
OMIM:612301 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Pulmonary arteriovenous malformation, Cerebral arteriovenous... |
OMIM:175050 |
Beckwith-Wiedemann Syndrome |
|
Cardiomegaly, Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Macroglossia, Cardiomyopat... |
OMIM:130650 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... |
OMIM:137920 |
Pelizaeus-Merzbacher Disease |
|
Abnormality of visual evoked potentials, Optic atrophy, Short stature, Hearing impairment |
ORPHA:702 |
Osteogenesis Imperfecta |
|
Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Femoral bowing, Abnormal long b... |
ORPHA:666 |
Maple Syrup Urine Disease |
|
Lethargy, Increased level of hippuric acid in urine |
OMIM:248600 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Hydrocephalus, Oligozoospermia, Abnormality of secondary sexual hai... |
ORPHA:91348 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Short stature, Hydrocephalus, Optic atrophy, Retinopathy, Hearing impairment |
ORPHA:220295 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Elevated urinary 3-methylcrotonylglycine level, Ketonuria, 3-hydroxyisovaleric aciduria, Lethargy |
OMIM:210200 |
Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Abnormality of retinal pigmentation, Short stature, Hearing impairment, C... |
ORPHA:636 |
Nephronophthisis 1 |
|
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:256100 |
Argininosuccinic Aciduria |
|
Dry hair, Brittle hair, Aminoaciduria, Lethargy, Oroticaciduria, Trichorrhexis nodosa, Elevated C... |
OMIM:207900 |
Arachnoiditis |
|
Hydrocephalus, Urinary bladder sphincter dysfunction, Tinnitus, Hearing impairment |
ORPHA:137817 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Epiphyseal stippling, Renal cyst |
OMIM:614862 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Retinal detachment, Hydrocephalus |
ORPHA:2969 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Lip pit, Tapered finger, Hypodontia, Microphthalmia, Broad thumb, Abnorm... |
ORPHA:1236 |
Ivic Syndrome |
|
Severe short stature, Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of th... |
ORPHA:2307 |
Late-Onset Isolated Acth Deficiency |
|
Vertigo, Lethargy, Orthostatic hypotension, Hypotension |
ORPHA:199299 |
Restrictive Dermopathy 1 |
|
Natal tooth, Ureteral duplication, Hypospadias, Rocker bottom foot, Congenital pseudoarthrosis of... |
OMIM:275210 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Papilledema, Spontaneous, recurrent epistaxis, Mitral valve calcification, Aortic ... |
ORPHA:2072 |
Mepan Syndrome |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:508093 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:1946 |
Kenny-Caffey Syndrome, Type 2 |
|
Papilledema, Severe short stature, Short stature, Retinal calcification, Microphthalmia, Thickene... |
OMIM:127000 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Rod-cone dystrophy, Polydactyly, Pigmentary retinopathy |
OMIM:616562 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Lethargy, Tachycardia, Increased urinary glycerol |
OMIM:229700 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Ketonuria, Hyperglycinuria, Organic aciduria, Lethargy |
OMIM:210210 |
Johanson-Blizzard Syndrome |
|
Single transverse palmar crease, Anteriorly placed anus, Downturned corners of mouth, Atrial sept... |
OMIM:243800 |
Desmosterolosis |
|
Rhizomelia, Posteriorly rotated ears, Hydrocephalus, Cupped ear, Bilateral talipes equinovarus, T... |
OMIM:602398 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Lethargy |
OMIM:237300 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Short stature, Cleft palate |
OMIM:257910 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cyst |
OMIM:617100 |
Wiedemann-Rautenstrauch Syndrome |
|
Secundum atrial septal defect, Small earlobe, Dandy-Walker malformation, Genu varum, Long toe, Ab... |
OMIM:264090 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, ... |
OMIM:609049 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Ventriculomegaly, Short femur, Metaphyseal spurs, Unilateral renal a... |
OMIM:618188 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bicuspid aortic valve, Single transverse palmar crease, Synophrys, Protruding ear, Chorioretinal ... |
OMIM:619475 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Nephroblastoma, Cardiomegaly, Nephrolithiasis, Cleft palate, Hypercalciuria... |
ORPHA:116 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... |
ORPHA:79431 |
Metachromatic Leukodystrophy, Adult Form |
|
Urinary incontinence, Decreased nerve conduction velocity, Optic atrophy, Depression, Bilateral s... |
ORPHA:309271 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Semilobar holoprosencephaly, Lobar holoprosencephaly |
OMIM:618500 |
Infantile Neuroaxonal Dystrophy |
|
Abnormality of visual evoked potentials, Optic atrophy, Abnormal autonomic nervous system physiol... |
ORPHA:35069 |
Cutis Laxa, Autosomal Dominant 1 |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Long philtrum |
OMIM:123700 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Crumpled long bones, Bowing of the long bones, Short stature, Intrau... |
ORPHA:2050 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials, Re... |
ORPHA:168491 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Arachnodactyly, Broad hallux, Cubitus valgus, Dental malocclusion, High palate, Short finger, Mic... |
OMIM:601552 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Ventricular septal defect, Intestinal malrotation, Jejunoileal ulceration, Rectal abscess, Intrau... |
ORPHA:436252 |
Ebola Hemorrhagic Fever |
|
Melena, Lethargy, Gastrointestinal hemorrhage |
ORPHA:319218 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Thin upper lip vermilion, Equinus calcaneus, 2-3 toe syndactyly, Bilateral talipes equinovarus, A... |
ORPHA:522077 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Neurogenic bladder, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus trac... |
OMIM:600145 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht... |
OMIM:606966 |
Alexander Disease |
|
Facial palsy, Sudden cardiac death, Aqueductal stenosis, Hydrocephalus, Depression, Hypertension,... |
ORPHA:58 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Thin upper lip vermilion, Toe clinodactyly, Ventricular septal defect, Optic nerve hypoplasia, Sa... |
OMIM:620330 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Holoprosencephaly |
OMIM:618820 |
Cirrhosis, Familial |
|
Lethargy, Hypertension, Pulmonary arterial hypertension, Increased level of L-fucose in urine |
OMIM:215600 |
Culler-Jones Syndrome |
|
Short stature, Postaxial polydactyly, Cleft upper lip, Cleft palate, Micropenis |
OMIM:615849 |
Lymphatic Malformation 6 |
|
Atrial septal defect, Varicose veins, Intestinal lymphangiectasia, Short stature |
OMIM:616843 |
Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Abnormal dental enamel morphology, Macrodactyly, Metatarsus val... |
ORPHA:744 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Increased CS... |
ORPHA:206443 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Micromelia, Postaxial hand polydactyly, Hypoplasia of the small intestine, Cys... |
OMIM:200995 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Growth delay, Lethargy, Depression |
ORPHA:99832 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Enuresis, Occipital meningo... |
ORPHA:268810 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Short stature, Optic atrophy, Palmoplantar hyperkeratosis, Abnormal auto... |
OMIM:231550 |
Basal Cell Nevus Syndrome 2 |
|
Palmar pits, Hydrocephalus, Vertigo |
OMIM:620343 |
Neurofibromatosis, Type I |
|
Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valg... |
OMIM:162200 |
Marburg Hemorrhagic Fever |
|
Shock, Renal insufficiency, Tachycardia, Pericarditis, Orchitis, Hypovolemia, Capillary leak, Sub... |
ORPHA:99826 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Short stature, Aniridia, Unilateral renal agenesis |
ORPHA:1064 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Lethargy, Chorioretinal hypopigmentation, Oroticaciduria, Chorioretinal atrophy |
ORPHA:415 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Growth delay, Patent foramen ovale |
OMIM:225250 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Short stature, Camptodactyly of finger, Postnatal growth ... |
OMIM:309000 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Remnants of the hyaloid vascular system, Phthisis bulbi, Hyphema, Retinal nonattachment, Buphthal... |
OMIM:221900 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Urinary incontinence, Decreased nerve conduction velocity, Optic atrophy, Bilateral sensorineural... |
ORPHA:309256 |
Icf Syndrome |
|
Communicating hydrocephalus, Umbilical hernia, Short stature, Low-set ears |
ORPHA:2268 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Cryptorchidism, Low-set, posteriorly rotated ears |
ORPHA:1237 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Lacticaciduria, Elevated urine acetoacetic aci... |
OMIM:615751 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Atrial septal defect |
ORPHA:457351 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus, Urinary incontinence |
OMIM:236690 |
Glycerol Kinase Deficiency |
|
Increased urinary glycerol, Short stature, Cryptorchidism, Growth delay, Low-set ears, Lethargy |
OMIM:307030 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Lethargy, Homocystinuria, Methylmalonic aciduria |
OMIM:277410 |
17Q11 Microdeletion Syndrome |
|
Short stature, Bowing of the legs, Gastrointestinal stroma tumor, Abnormal internal carotid arter... |
ORPHA:97685 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Urinary incontinence, Decreased nerve conduction velocity, Optic atrophy, Bilateral sensorineural... |
ORPHA:309263 |
Methylmalonic Aciduria, Cbla Type |
|
Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, Elevated urine 2... |
OMIM:251100 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Endocardial fibroelastosis |
OMIM:600559 |
Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Tufted hai... |
ORPHA:573278 |
17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Urete... |
ORPHA:261265 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
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Communicating hydrocephalus, Short stature, Postnatal growth retardation, Hypoglycorrhachia, Macr... |
ORPHA:168577 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
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Lethargy, Ethylmalonic aciduria, Cardiomyopathy |
OMIM:201470 |
Neuromuscular Oculoauditory Syndrome |
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Reduced renal corticomedullary differentiation, Wrist flexion contracture, Multiple renal cysts, ... |
OMIM:618733 |
Methylmalonic Aciduria, Cblb Type |
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Lethargy, Ketonuria, Methylmalonic aciduria |
OMIM:251110 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, P... |
ORPHA:93111 |
Lhermitte-Duclos Disease |
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Trichilemmoma, Hydrocephalus, Hand polydactyly |
ORPHA:65285 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
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Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Bosma Arhinia Microphthalmia Syndrome |
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Hypospadias, Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia of teeth, High palate, Micr... |
OMIM:603457 |
Cryptococcosis |
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Abnormal retinal morphology, Hydrocephalus, Vitritis, Abnormal optic nerve morphology, Abnormalit... |
ORPHA:1546 |
Osteootohepatoenteric Syndrome |
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Proteinuria, Avascular necrosis of the capital femoral epiphysis, Hydrocephalus, Grade II vesicou... |
OMIM:619377 |
Cole-Carpenter Syndrome 1 |
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Communicating hydrocephalus, Hydrocephalus, Short stature |
OMIM:112240 |
Immunodeficiency 96 |
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Growth delay, Multicystic kidney dysplasia |
OMIM:619774 |
Nephronophthisis 3 |
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Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Attenuated Familial Adenomatous Polyposis |
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Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Growth delay, Umbilical hernia, Bradycardia, Lethargy |
OMIM:218700 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
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4-hydroxyphenylacetic aciduria, Congestive heart failure, 4-Hydroxyphenylpyruvic aciduria, Intrau... |
OMIM:617156 |
Glutaric Acidemia I |
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Glutaric aciduria, Hydrocephalus, Ketonuria, Lateral ventricle dilatation |
OMIM:231670 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Growth delay, Ventricular septal defect, High palate |
OMIM:619418 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
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Hypospadias, Optic nerve hypoplasia, Tented philtrum, Renal cyst, Anteriorly placed anus, Buphtha... |
ORPHA:495875 |
Peroxisome Biogenesis Disorder 1B |
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Hyperoxaluria, Renal cyst, Epiphyseal stippling |
OMIM:601539 |
Hermansky-Pudlak Syndrome |
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Gastrointestinal hemorrhage, Renal insufficiency, Hypopigmentation of hair, Epistaxis, Ocular alb... |
ORPHA:79430 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Renal insufficiency, Renal hamartoma, Peptic ulcer, Nephrolithiasis, Renal cyst, Hypercalciuria, ... |
ORPHA:99880 |
Norrie Disease |
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Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... |
ORPHA:649 |
Tetraamelia Syndrome 1 |
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Renal agenesis, Cleft upper lip, Cleft palate, Urethral atresia, Hypoplastic pelvis, Microphthalm... |
OMIM:273395 |
Retinitis Pigmentosa |
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Abnormality of retinal pigmentation, Hypoplasia of penis, Abnormal retinal vascular morphology, S... |
ORPHA:791 |
Sotos Syndrome |
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Ureteral duplication, No permanent dentition, Vesicoureteral reflux, Atrial septal defect, Hyposp... |
ORPHA:821 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Membranoproliferative glomerulonephritis, Ventricular septal defect, Microscopic hematuria, Moder... |
OMIM:619525 |
Parathyroid Carcinoma |
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Renal insufficiency, Renal hamartoma, Peptic ulcer, Nephrolithiasis, Renal cyst, Hypercalciuria, ... |
ORPHA:143 |
Oxoglutaric Aciduria |
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Hydrocephalus, Abnormal urine alpha-ketoglutarate concentration, Short stature |
ORPHA:31 |
Large Congenital Melanocytic Nevus |
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Hydrocephalus, Generalized hirsutism |
ORPHA:626 |
Capillary Malformation-Arteriovenous Malformation |
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Neurogenic bladder, Epistaxis, High-output congestive heart failure, Hydrocephalus, Congestive he... |
ORPHA:137667 |
Absent Radius-Anogenital Anomalies Syndrome |
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Hydrocephalus, Hypoplasia of the radius, Ectrodactyly, Oligodactyly |
ORPHA:3016 |
Transcobalamin Ii Deficiency |
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Lethargy, Methylmalonic aciduria |
OMIM:275350 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephalus, Retinal hemorrhage, Hypoplasia... |
OMIM:175780 |
Multiple Endocrine Neoplasia Type 1 |
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Hematemesis, Shortened QT interval, Cranial nerve compression, Hypercalciuria, Nephrolithiasis, D... |
ORPHA:652 |
Hydrocephalus, Congenital, 4 |
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Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Hereditary Fructose Intolerance |
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Growth delay, Lethargy, Renal insufficiency, Chronic kidney disease |
ORPHA:469 |
Joubert Syndrome 9 |
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Encephalocele, Retinal dystrophy, Stage 5 chronic kidney disease, Ventriculomegaly |
OMIM:612285 |
Oeis Complex |
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Congenital hip dislocation, Hydroureter, Cryptorchidism, Myelomeningocele, Hydrocephalus, Epispad... |
OMIM:258040 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
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Intracranial hemorrhage, Hydrocephalus, Optic nerve compression |
ORPHA:91350 |
Liver Disease, Severe Congenital |
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Chronic gastritis, Recurrent urinary tract infections, Ventricular septal defect, Left atrial enl... |
OMIM:619991 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
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Hip contracture, Calcification of the auricular cartilage, Short stature, Bilateral cryptorchidis... |
ORPHA:3042 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
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Growth delay, Abnormality of visual evoked potentials |
OMIM:614457 |
Congenital Disorder Of Glycosylation, Type If |
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Thin vermilion border, Renal cortical cysts |
OMIM:609180 |
Lysinuric Protein Intolerance |
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Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Abnormal heart morphology, Tubulointe... |
ORPHA:470 |
Hydrocephalus, Congenital, 5, Susceptibility To |
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Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Exercise-Induced Malignant Hyperthermia |
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Prolonged QT interval, Sinus tachycardia, Vertigo, Oliguria, Abnormal T-wave, ST segment depressi... |
ORPHA:466650 |
Mpdu1-Cdg |
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Thin vermilion border, Renal cortical cysts |
ORPHA:79323 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs... |
OMIM:600740 |
Linear Nevus Sebaceus Syndrome |
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Alopecia, Growth delay, Microphthalmia, Dandy-Walker malformation, Ventriculomegaly |
ORPHA:2612 |
Kufor-Rakeb Syndrome |
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Urinary incontinence, Abnormal finger morphology, Bradykinesia, Apathy, Lethargy |
ORPHA:306674 |
Plasminogen Deficiency, Type I |
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Ventriculomegaly, Hydrocephalus, Nephrolithiasis, Nephritis, Dandy-Walker malformation |
OMIM:217090 |
Pineoblastoma |
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Papilledema, Retinoblastoma, Lethargy |
ORPHA:251909 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
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Communicating hydrocephalus, Arachnodactyly, Posteriorly rotated ears, Sparse eyebrow, Large hand... |
OMIM:617011 |
Developmental And Epileptic Encephalopathy 3 |
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Abnormality of visual evoked potentials |
OMIM:609304 |
Ciliary Dyskinesia, Primary, 43 |
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Abdominal situs inversus, Noncommunicating hydrocephalus |
OMIM:618699 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Semilobar holoprosencephaly |
OMIM:129900 |
Gaucher Disease, Type Iiic |
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Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Hydrocephalus, Mitral stenosis |
OMIM:231005 |
Pearson Marrow-Pancreas Syndrome |
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Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Complex organic aciduria, Leth... |
OMIM:557000 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Sparse pubic hair, Microphthalmia, Cupped ear, Highly arched eyebrow |
OMIM:110100 |
Meningioma |
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Papilledema, Urinary incontinence, Facial palsy, Cerebral hemorrhage, Ear pain, Hydrocephalus, Sy... |
ORPHA:2495 |
Exstrophy-Epispadias Complex |
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Renal insufficiency, Urinary incontinence, Spina bifida, Cryptorchidism, Hydrocephalus, Epispadia... |
ORPHA:322 |
Citrullinemia, Classic |
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Lethargy, Oroticaciduria |
OMIM:215700 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
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Lethargy, Oroticaciduria |
OMIM:311250 |
Cln5 Disease |
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Abnormality of visual evoked potentials |
ORPHA:228360 |
Frontofacionasal Dysplasia |
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Cranium bifidum occultum, Absent inner eyelashes, Microphthalmia |
OMIM:229400 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
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Thin upper lip vermilion, Renal cortical cysts, Downturned corners of mouth, Long philtrum, Vesic... |
OMIM:618548 |
Fructose Intolerance, Hereditary |
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Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal... |
OMIM:229600 |
Joubert Syndrome 5 |
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Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Cleft... |
OMIM:610188 |
Xeroderma Pigmentosum, Complementation Group D |
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Microphthalmia, Sensorineural hearing impairment, Corneal neovascularization, Telangiectasia |
OMIM:278730 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Facial palsy, Cardiomyopathy, Reduced left ventricular ejection fraction, Abnormality of visual e... |
ORPHA:258 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Communicating hydrocephalus, Low-set, posteriorly rotated ears, Ventriculomegaly, Arachnodactyly,... |
ORPHA:457359 |
Von Hippel-Lindau Syndrome |
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Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst |
OMIM:193300 |
Paroxysmal Nocturnal Hemoglobinuria |
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Hemosiderinuria, Renal insufficiency, Proteinuria, Myocardial infarction, Pulmonary embolism, Chr... |
ORPHA:447 |
Choanal Atresia |
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Polydactyly |
ORPHA:137914 |
Pmm2-Cdg |
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Thin upper lip vermilion, Pericarditis, Proteinuria, Pericardial effusion, Long fingers, Wide mou... |
ORPHA:79318 |
Metachromatic Leukodystrophy |
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Urinary incontinence, Decreased nerve conduction velocity, Abnormality of visual evoked potential... |
ORPHA:512 |
Isolated Arrhinia |
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Microphthalmia |
ORPHA:1134 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Hydrocephalus |
ORPHA:2736 |
Hypoplasminogenemia |
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Hydrocephalus, Abnormality of the middle ear, Nephrolithiasis, Dandy-Walker malformation |
ORPHA:722 |
Glycine Encephalopathy |
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Lethargy |
ORPHA:407 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Aciduria, 3-Methylglutaconic aciduria, Ethylmalonic aciduria, Abnormality of visual evoked potent... |
OMIM:203700 |
Retinitis Pigmentosa 93 |
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Rod-cone dystrophy, Retinal dots |
OMIM:619845 |