Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Facial cleft, Neural tube defect |
OMIM:600776 |
Gombo Syndrome |
|
Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly |
OMIM:233270 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Deep palmar crease, Tessier number 4 facial cleft |
OMIM:600251 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Cleft palate, Abnormal heart morphology, Upper limb phocomelia, Abnormal cardiac sept... |
ORPHA:294975 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Intestinal malrotation, Hypoplastic left atrium, Cleft p... |
OMIM:615524 |
Anophthalmia Plus Syndrome |
|
Anophthalmia, Spina bifida, Facial cleft, Cleft palate, Bilateral cleft lip and palate, Deviation... |
ORPHA:1104 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Short femur, Ventricular septal defect, Facial cleft, Anterior encephaloc... |
OMIM:601357 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Optic nerve hypoplasia, Broad proximal phalanges of the hand, High, narrow palate, Bilateral micr... |
OMIM:607597 |
Oculomaxillofacial Dysostosis |
|
Brachydactyly, Camptodactyly of finger, Abnormality of the humerus, Facial cleft, Aplasia/Hypopla... |
ORPHA:1794 |
Mosaic Trisomy 9 |
|
Micromelia, Polyhydramnios, Hydrops fetalis, Finger clinodactyly, High palate, Endocardial fibroe... |
ORPHA:99776 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Cleft palate, Polydac... |
OMIM:613885 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Edema, Talipes equinovarus, Microphthalmia, Intrauterine growth retardation |
OMIM:616570 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Frontonasal Dysplasia 3 |
|
Microphthalmia, Facial cleft |
OMIM:613456 |
Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Anophthalmia, Facial cleft |
ORPHA:66625 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect, Short toe, Absent middle phalanx of the 3rd toe,... |
OMIM:615297 |
Acrofacial Dysostosis, Weyers Type |
|
Postaxial hand polydactyly, Small hand, Facial cleft, Clinodactyly of the 5th finger, Overlapping... |
ORPHA:952 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Sandal gap, Single transverse palmar crease, Anophthalmia, Capitate-hamate fusion... |
OMIM:206920 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th... |
ORPHA:93323 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
2-3 toe syndactyly, Cleft palate, Abnormal heart morphology, Facial cleft, Small thenar eminence,... |
OMIM:239800 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Congenital hip dislocation, Orbital encephalocele, Cleft palate, Microphthalmia |
OMIM:164180 |
Trisomy 13 |
|
Atrial septal defect, Anophthalmia, Ventricular septal defect, High, narrow palate, Postaxial han... |
ORPHA:3378 |
Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Lym... |
OMIM:619126 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Hydrolethalus |
|
Anophthalmia, Micromelia, Polyhydramnios, Postaxial hand polydactyly, Submucous cleft hard palate... |
ORPHA:2189 |
Frontofacionasal Dysplasia |
|
Encephalocele, Microphthalmia, Facial cleft, Cleft palate |
ORPHA:1791 |
Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Brachydactyly, Small hand, Facial cleft, Short palm, Clinodactyly of the 5th f... |
ORPHA:1786 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Anencephaly 2 |
|
Anophthalmia, Anencephaly, Median cleft palate |
OMIM:619452 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Hydrocephalus, Tracheoesophageal fistula, Facial cleft, Hydrops fetali... |
ORPHA:268249 |
Trisomy 1Q |
|
Anophthalmia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Ventricular septal defect,... |
ORPHA:261344 |
Mmep Syndrome |
|
Microphthalmia, Split foot, Triphalangeal thumb |
ORPHA:3434 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Congenital Varicella Syndrome |
|
Microphthalmia, Micromelia, Intrauterine growth retardation |
ORPHA:291 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Abnormal cardiac septum morphology, Intrauter... |
ORPHA:1937 |
Supernumerary Nostril |
|
Facial cleft |
ORPHA:141096 |
Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Atrial septal defect, Bowing of the long bones, Ventricular septal defect, Postaxi... |
OMIM:611134 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... |
ORPHA:1617 |
Bartsocas-Papas Syndrome 1 |
|
Hypoplastic iliac wing, Patent foramen ovale, Short phalanx of finger, Syndactyly, Short metacarp... |
OMIM:263650 |
Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Ventricular septal defect, Polyhydramnios, Atrial septal defec... |
ORPHA:3469 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1647 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Frontonasal Dysplasia 1 |
|
Postaxial hand polydactyly, Anterior basal encephalocele, Tetralogy of Fallot, Pectoral muscle hy... |
OMIM:136760 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Tapered finger, Facial cleft, Microphthalmia, Broad thumb, Bilateral sin... |
ORPHA:1236 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Constricting Bands, Congenital |
|
Encephalocele, Syndactyly, Facial cleft, Cleft palate, Hand polydactyly, Talipes equinovarus, Ect... |
OMIM:217100 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, Microph... |
ORPHA:139471 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Congenital Heart Block |
|
Pericardial effusion, Hydrops fetalis, Peripheral edema, Pallor, Endocardial fibroelastosis, Intr... |
ORPHA:60041 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni... |
OMIM:603194 |
Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, Sandal gap, High, narrow palate, Dilated cardiomyopathy, Clinodactyly ... |
ORPHA:2515 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Facial cleft, Cleft palate, Finger clinodactyly, Pectoral muscle hypopla... |
ORPHA:306542 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Radi... |
ORPHA:1388 |
Joubert Syndrome 22 |
|
Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Microphthalmia, Intra... |
OMIM:615665 |
Feingold Syndrome Type 2 |
|
Toe syndactyly, Ventricular septal defect, Jejunal atresia, Short thumb, Short middle phalanx of ... |
ORPHA:391646 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Trident pelvis, Bowing of the long bones, Ventricular septal defect, Pos... |
OMIM:614815 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Ventricular septal defect, Optic nerve hypoplasia, Absent thumb, Short thum... |
OMIM:609053 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Hartsfield Syndrome |
|
Encephalocele, Split hand, Cleft palate, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radiu... |
ORPHA:2117 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl... |
OMIM:614326 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Optic nerve hypoplasia, Midline facial cleft, Preaxial polydactyly, Pr... |
OMIM:603671 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Short thumb, Intrauterine growth retardation |
OMIM:609054 |
Bardet-Biedl Syndrome 7 |
|
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:615984 |
Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly, Oligohydramnios |
OMIM:615397 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Preaxial polydactyly |
ORPHA:141333 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Unilateral Ocular Duplication |
|
Encephalocele, Polyhydramnios, Midline facial cleft, Cleft palate |
ORPHA:3374 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Ventricular septal defect, Hydrocephalus, Polydactyly, Microphthalmia |
OMIM:602501 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Ventricular septal defect, Esophageal atresia, Hydrocephalus, Tracheoesophageal fis... |
ORPHA:77298 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia, Premature skin wrinkling, Split foot |
OMIM:601349 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Umbilical... |
ORPHA:65759 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Nemaline Myopathy 9 |
|
High palate, Polyhydramnios, Ventricular septal defect, Cleft palate |
OMIM:615731 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... |
ORPHA:1106 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Spina bifida, Polyhydramnios, Aqueductal stenosis, Esophageal atresia, Hydrocephalu... |
ORPHA:3412 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the rad... |
ORPHA:2476 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Polyhydramnios, Tracheoesophageal fistula, Cleft palate, Atria... |
ORPHA:261272 |
Fraser Syndrome 1 |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Anophthalmia... |
OMIM:219000 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Microgastria-Limb Reduction Defect Syndrome |
|
Anophthalmia, Abnormal finger morphology, Atrial septal defect, Phocomelia, Microgastria, Aplasti... |
ORPHA:2538 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Ventricular septal defect, Bilateral microphthalmos, Hypoplastic left atrium, Neona... |
OMIM:601186 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Microphthalmia |
OMIM:614082 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... |
OMIM:617927 |
Hb Bart'S Hydrops Fetalis |
|
Hydrops fetalis, Pallor, Polyhydramnios, Oligohydramnios |
ORPHA:163596 |
Joubert Syndrome 15 |
|
Preaxial polydactyly, Exencephaly |
OMIM:614464 |
3Mc Syndrome 3 |
|
Radioulnar synostosis, Clinodactyly, Preaxial polydactyly, Facial cleft |
OMIM:248340 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta... |
OMIM:611561 |
Congenital Toxoplasmosis |
|
Cardiomegaly, Hydrocephalus, Microphthalmia, Ascites, Intrauterine growth retardation |
ORPHA:858 |
Retinitis Pigmentosa 51 |
|
Polydactyly, Pallor |
OMIM:613464 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of metacarpals, Intrau... |
OMIM:300863 |
Meckel Syndrome |
|
Encephalocele, Bowing of the long bones, Anophthalmia, Aplasia/Hypoplasia of the tongue, Situs in... |
ORPHA:564 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Polyhydramnios, Camptodactyly of finger, Symphalangism affecting the phalanges of... |
ORPHA:2547 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Talipes equinovarus, Intrauterine growth retardation |
OMIM:616171 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Fetal Minoxidil Syndrome |
|
Clinodactyly of the 5th finger, Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Postaxial hand polydactyly, Hydrocephalus, Cleft p... |
ORPHA:85284 |
Sandestig-Stefanova Syndrome |
|
Rocker bottom foot, Muscular ventricular septal defect, Perimembranous ventricular septal defect,... |
OMIM:618804 |
Myopathic Ehlers-Danlos Syndrome |
|
Shoulder flexion contracture, Tapered finger, Elbow flexion contracture, Congenital bilateral hip... |
ORPHA:536516 |
Pierpont Syndrome |
|
Short toe, Deep palmar crease, Short finger, Prominent fingertip pads, Microphthalmia, Excessive ... |
ORPHA:487825 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping fingers, Overlapping toe, Hypoplastic right heart, Postaxial polydactyly, Ventricular... |
OMIM:618142 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... |
ORPHA:1553 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Atrial septal defect, Overlapping toe, Ventricular septal defect, Patent foramen ovale, High, nar... |
OMIM:618494 |
Temtamy Syndrome |
|
Short toe, Genu varum, Clinodactyly of the 5th finger, Microphthalmia, Brachydactyly |
ORPHA:1777 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Isolated Arrhinia |
|
Microphthalmia, Facial cleft |
ORPHA:1134 |
Cofs Syndrome |
|
Microphthalmia, Camptodactyly of finger, Intrauterine growth retardation |
ORPHA:1466 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Tracheoesophageal fistula, Cleft palate, Facial cleft, Glossopt... |
ORPHA:861 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyly, Partial atrioventri... |
OMIM:615996 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Tessier number 13 facial cleft, Microphthalmia, Intrauterine growth retardation, O... |
OMIM:613451 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Rhizomelia, Ventricular septal defect, Proximal placement of thumb, Abn... |
ORPHA:93267 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Mic... |
ORPHA:1908 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Pallor |
OMIM:606353 |
Microphthalmia, Isolated 5 |
|
Microphthalmia, Cystoid macular edema |
OMIM:611040 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Microphthalmia, Split hand, Abnormal pelvic girdle bone morphology, Ta... |
OMIM:157900 |
Cat-Eye Syndrome |
|
Microphthalmia, Hip dysplasia, Intrauterine growth retardation |
ORPHA:195 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Aqueductal stenosis, Short tibia, Humeroradial synostosi... |
OMIM:251230 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pallor |
ORPHA:49827 |
Pierpont Syndrome |
|
Short toe, Broad palm, Short foot, Deep palmar crease, Short finger, Short palm, Prominent finger... |
OMIM:602342 |
3P25.3 Microdeletion Syndrome |
|
Atrial septal defect, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger,... |
ORPHA:435638 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Septooptic Dysplasia |
|
Optic disc hypoplasia, Polydactyly, Optic nerve hypoplasia, Short finger |
OMIM:182230 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Metaphyseal c... |
ORPHA:163966 |
Walker-Warburg Syndrome |
|
Anophthalmia, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Metatarsus valgus, Microp... |
ORPHA:899 |
Holoprosencephaly |
|
Encephalocele, Anophthalmia, Ventricular septal defect, Abnormal pulmonary valve morphology, Medi... |
ORPHA:2162 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Genital ulcers, Splenomegaly, Recu... |
OMIM:602450 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Microphthalmia, Ventricular septal defect |
OMIM:613730 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, 2-3 toe cutaneous syndactyly, Atrial septal defect, Contracture of the proximal int... |
OMIM:300166 |
Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:613561 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Hydrocephalus |
ORPHA:1528 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Hand polydactyly, Pulmonic stenosis, Atrial septal defect, Abnormal 3r... |
OMIM:249670 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Short thumb, Submucous cleft hard palate, Broa... |
ORPHA:2712 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Congenital Rubella Syndrome |
|
Atrial septal defect, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Microphthalmia, ... |
ORPHA:290 |
Tarp Syndrome |
|
Meckel diverticulum, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, ... |
OMIM:311900 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Tapered finger, Lymphedema, Flattened epiphysis, Genu valgum, Polydactyly, ... |
OMIM:607131 |
Neurooculocardiogenitourinary Syndrome |
|
Redundant neck skin, Ventricular septal defect, Cardiomegaly, Patent foramen ovale, Atrial septal... |
OMIM:618652 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Anophthalmia, Optic nerve hypoplasia, Postaxial polydactyly, Postaxial hand polyda... |
OMIM:605627 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal t... |
ORPHA:1354 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
Kapur-Toriello Syndrome |
|
Atrial septal defect, Overlapping fingers, Ventricular septal defect, Single transverse palmar cr... |
OMIM:244300 |
Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... |
OMIM:169550 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Cranioacrofacial Syndrome |
|
Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly, Pallor |
OMIM:615631 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Duane-Radial Ray Syndrome |
|
Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Atrial se... |
OMIM:607323 |
Sonoda Syndrome |
|
High axial triradius, Ventricular septal defect |
OMIM:270460 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Occipital encephalocele, Hydrocephalus |
ORPHA:324416 |
Orofaciodigital Syndrome Xvii |
|
Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplication of thumb phalanx... |
OMIM:617926 |
Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morphology, Absent toe,... |
ORPHA:974 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, High palate, Clinodactyly of the 5th finger, A... |
OMIM:201000 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Joint contracture of the 4t... |
OMIM:618914 |
X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Sandal gap, Atrial septal defect, Microphthalmia, Tetralogy of Fallot |
OMIM:300887 |
Cockayne Syndrome Type 2 |
|
Intrauterine growth retardation, Anophthalmia, Delayed eruption of primary teeth |
ORPHA:90322 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
14Q11.2 Microdeletion Syndrome |
|
High palate, Toe syndactyly, Ventricular septal defect, Toe clinodactyly |
ORPHA:261120 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, Camptodactyly of finger, High, narrow palate, Ulnar deviation of finger, Talipes eq... |
ORPHA:1101 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, P... |
OMIM:264480 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Epiphyseal stippling, Glossoptosis, Ventricular septal defect |
OMIM:614876 |
Mosaic Trisomy 1 |
|
Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Single transverse palmar crease, Rocker bott... |
ORPHA:1692 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the distal pha... |
OMIM:113000 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia, Intrauterine growth retardation |
ORPHA:2470 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Camptodactyly of finger, Spina bifida, Aplasia/Hypoplasia of the fibula, Mesomelic/rh... |
ORPHA:2839 |
Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Ventricular septal defect, Polyhydramnios, Preaxial hand polydactyly, Duplication of ... |
OMIM:263630 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Umbilical h... |
OMIM:169400 |
Holoprosencephaly 1 |
|
Alobar holoprosencephaly, Facial cleft, Single ventricle, Microphthalmia, Ethmocephaly, Median cl... |
OMIM:236100 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Rocker bottom foot, Camptodactyly of finger, Adducted thumb, Flared metaphysis, Hip dislocation, ... |
OMIM:610758 |
Joubert Syndrome 40 |
|
Optic nerve hypoplasia, Postaxial polydactyly |
OMIM:619582 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyly |
OMIM:615877 |
Pallister-Hall Syndrome |
|
Anteriorly placed anus, Holoprosencephaly, Neonatal death, Distal shortening of limbs, Syndactyly... |
OMIM:146510 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect, Short hallux, Long fingers, Clinodactyly of the 5th finger, Slender fi... |
OMIM:620393 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta |
ORPHA:64754 |
Cousin Syndrome |
|
Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio... |
OMIM:260660 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metatarsal, Anteriorly place... |
OMIM:305600 |
Bardet-Biedl Syndrome 16 |
|
Polydactyly |
OMIM:615993 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Cleft palate, Hydranencephaly, Truncus arteriosus, Short distal phalan... |
OMIM:601355 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Delayed eruption of teeth, Overlapping toe, Single transverse palmar crease, Taper... |
OMIM:619148 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Camptodactyly of finger, Intrauterine growth retardation |
ORPHA:48431 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Macroglossia, Microphthalmia, Hydrocephalus, Cardiomyopathy |
OMIM:613155 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Intestinal malrotation, Postaxial polydactyly, 2-3 toe syndactyly, Cle... |
ORPHA:404440 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Edema, Protruding tongue, Hydrocephalus, Abnormal heart morphology, Poly... |
ORPHA:93400 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd... |
OMIM:614175 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Cubitus valgus, Down-sloping shoulders, Camptodactyly |
OMIM:619694 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Overlapping toe, Postaxial polydactyly, Tapered finger, Macular hypoplasia, High palate, Intraute... |
OMIM:613792 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Clinodactyly of the 5th finger, Ventricular septal defect, Single transverse palmar crease |
OMIM:619717 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele, Talipes equinovarus |
OMIM:617255 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Polyhydramnios, Calcaneovalgus deformity, Neonatal death, Patent foramen ovale, Finge... |
OMIM:256520 |
Solitary Bone Cyst |
|
Abnormal tibia morphology, Abnormal spinal cord morphology, Abnormal pubic bone morphology, Proxi... |
ORPHA:83468 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Cleft palate... |
OMIM:220210 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Bowing of the long bones, Syndactyly, Postaxial polydactyly, Postaxial h... |
OMIM:619879 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios |
ORPHA:1909 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Short long bone, Polyhydramnios, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Meningocele, Clef... |
OMIM:614424 |
Trisomy 18 |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Spina bifida, Esophagea... |
ORPHA:3380 |
14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Short foot, Short palm, Cli... |
ORPHA:264200 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Cyclic Vomiting Syndrome |
|
Cardiomyopathy, Pallor |
OMIM:500007 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Cleft palate, High palate, Polydactyly, Short tibia |
OMIM:300484 |
Short-Rib Thoracic Dysplasia 12 |
|
Edema, Bowing of the legs, Polyhydramnios, Lobulated tongue, Holoprosencephaly, Short palm, Neona... |
OMIM:269860 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Hydrocephalus, Short foot, Hand polydactyly, Abnormal cardi... |
ORPHA:250989 |
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 |
American Trypanosomiasis |
|
Aganglionic megacolon, Edema, Periorbital edema, Myocarditis, Cardiomyopathy, Pallor |
ORPHA:3386 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Sandal gap, Tapered finger |
ORPHA:1438 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia, Clinodactyly |
OMIM:619981 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... |
ORPHA:2756 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Cleft palate, Short 5th finger, Polydactyly, Small placenta, Ectrodactyly, Clinodacty... |
ORPHA:397590 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Natal tooth, Rhizomelia, Postaxial polydactyly, Hamartoma of tongue, Squared iliac... |
OMIM:616300 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Peau d'orange, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Esophageal varix,... |
OMIM:614576 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia, 2-5 finger cutaneous syndactyly, Absent distal phalanges, Small hand |
OMIM:619339 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Rocker bottom foot, Coxa valga, Elbow flexion contracture, Dehydration, Second metatarsal posteri... |
OMIM:214150 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... |
OMIM:614091 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida, Cleft palate, Abnormal shoulder morphology, Ectopic anus... |
ORPHA:2345 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276556 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Edema, Lymphedema, Skin ulcer, Scaling skin, Chylothorax, Microphthalmia, Pleural e... |
ORPHA:2526 |
Warburg Micro Syndrome 1 |
|
Microphthalmia, Overlapping toe |
OMIM:600118 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Ventricular septal defect, Abnormality of the hand, Bilateral microphthalmos, Abnorma... |
ORPHA:369891 |
Orofaciodigital Syndrome Vi |
|
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Ha... |
OMIM:277170 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Cerebral edema, Facial erythema |
ORPHA:439218 |
Lambert Syndrome |
|
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Marden-Walker Syndrome |
|
Arachnodactyly, Dextrocardia, High, narrow palate, Pyloric stenosis, Cleft palate, Radioulnar syn... |
OMIM:248700 |
Verheij Syndrome |
|
Branchial cyst, Truncus arteriosus, Optic nerve hypoplasia, Ventricular septal defect, Hip disloc... |
OMIM:615583 |
Osteoporosis-Pseudoglioma Syndrome |
|
Crumpled long bones, Metaphyseal widening, Abnormal femoral neck/head morphology, Microphthalmia,... |
ORPHA:2788 |
Suleiman-El-Hattab Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Polydactyly, High palate, Atrial sept... |
OMIM:618950 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Intrauterine growth retardation, Polydactyly, Hypoplastic ischia |
OMIM:616910 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypopl... |
ORPHA:94066 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Fractured radius, Ventricular septal defect, Polyhydramnios, Decreased fibular diame... |
OMIM:616897 |
Curry-Jones Syndrome |
|
Anal stenosis, Intestinal pseudo-obstruction, Duplication of thumb phalanx, Intestinal malrotatio... |
OMIM:601707 |
Roifman Syndrome |
|
Hip contracture, Short metacarpal, Noncompaction cardiomyopathy, Ventricular septal defect, Singl... |
OMIM:616651 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Coxa valga, Abnormality of the elbow, Flattened epiphysis, Flat acetabular roof, Hemiatrophy of u... |
ORPHA:163649 |
Holt-Oram Syndrome |
|
Finger syndactyly, Atrial septal defect, Ventricular septal defect, Down-sloping shoulders, Absen... |
ORPHA:392 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Polyhydramnios, High, narrow palate, Narrow palate, Cleft palate, High... |
OMIM:615102 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276575 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Postaxial hand polydactyly, Abnormal cardiac septum morphology, Ventricular septal defect, Hydroc... |
ORPHA:83473 |
Rheumatic Fever |
|
Pericarditis, Abnormal heart valve morphology, Myocarditis, Erythema, Endocarditis, Abnormal aort... |
ORPHA:3099 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, ... |
OMIM:614262 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Camptodactyly of finger, Rocker bottom foot, Intrauterine growth retardation |
OMIM:610756 |
Gracile Bone Dysplasia |
|
Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Ascites, Brachydactyly |
OMIM:602361 |
Desbuquois Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Coxa valga, Elbow dislocation, Small hand, Co... |
ORPHA:1425 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal de... |
OMIM:235750 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276580 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella... |
OMIM:609945 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Hypoplastic left heart, Ventricular... |
OMIM:616276 |
Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Ventricular septal defect, Tapered finger, Cubitus... |
ORPHA:193 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect |
OMIM:253300 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Cleft palate, Postaxial foot ... |
OMIM:607361 |
Charge Syndrome |
|
Delayed eruption of teeth, Anophthalmia, Polyhydramnios, Abnormal soft palate morphology, Aqueduc... |
ORPHA:138 |
Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Abnormal palmar dermatoglyphics, Sp... |
ORPHA:2092 |
Diabetic Embryopathy |
|
Ventricular septal defect, Hydrocephalus, Tetralogy of Fallot, Cleft palate, Spinal dysraphism, T... |
ORPHA:1926 |
Filippi Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, 2-4 toe syndactyly, Cutaneous syndact... |
OMIM:272440 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Hamartoma of tongue, Cleft palate, Lobulated tongue, Hand ... |
OMIM:258860 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Esophageal atresia, Atrial septal defect, Microphthalmia, Broad thumb, Brachyd... |
OMIM:614526 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Bilateral single transverse palmar creases, High, narrow palate, Cleft... |
ORPHA:2516 |
Adams-Oliver Syndrome 2 |
|
Single transverse palmar crease, Absent distal phalanges, Short middle phalanx of finger, Microph... |
OMIM:614219 |
2Q31.1 Microdeletion Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... |
ORPHA:251014 |
Charge Syndrome |
|
Anophthalmia, Abnormal palmar dermatoglyphics, Polyhydramnios, Secundum atrial septal defect, Han... |
OMIM:214800 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Clinodactyly of the 5th finger, Delayed eruption of permanent teeth, Ventricular septal defect, R... |
OMIM:618506 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Absent thumb, Hypoplastic ilia, Short thumb, Parti... |
OMIM:105650 |
Cat Eye Syndrome |
|
Meckel diverticulum, Anal stenosis, Anal atresia, Ventricular septal defect, Intestinal malrotati... |
OMIM:115470 |
Phaver Syndrome |
|
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Myelomenin... |
ORPHA:2876 |
Orofaciodigital Syndrome Xi |
|
Cleft palate, Postaxial polydactyly |
OMIM:612913 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Arachnodactyly, Hand polydactyly, Transposition of the great arteries,... |
ORPHA:261243 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Edema of the dorsum of hands, Femoral bowing, Abnormal shoulder morp... |
OMIM:274000 |
Dravet Syndrome |
|
Pallor, Tibial torsion |
ORPHA:33069 |
Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, High palate, Polydactyly, Upper limb asymmetry |
ORPHA:231140 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Lethal Congenital Contracture Syndrome 10 |
|
Overlapping fingers, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, ... |
OMIM:617022 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Single transverse palmar crease, High palate, Microphthalmia, Hypertrophic cardiomyopathy, Oligoh... |
OMIM:619053 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor, Lymphedema |
ORPHA:3226 |
Noonan Syndrome 12 |
|
Ventricular septal defect, Polyhydramnios, Proximal placement of thumb, Anteriorly placed anus, T... |
OMIM:618624 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Protruding tongue, Hydrocephalus, Cleft palate, Drumstick terminal pha... |
OMIM:612938 |
Frontorhiny |
|
Encephalocele, Camptodactyly of finger, Cleft palate, Finger clinodactyly, Basal encephalocele, C... |
ORPHA:391474 |
Monosomy 18P |
|
Lymphedema, Cleft palate, Holoprosencephaly, Microphthalmia, Brachydactyly |
ORPHA:1598 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Arachnodactyly, Single transverse palmar crease, Ventricular septal defect, Edema,... |
OMIM:618348 |
Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Polyhydramnios, Preaxial hand polydactyly, Postaxial hand polydactyly,... |
OMIM:236680 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 2nd finger, Sandal gap, Broad hallux, Ventricular septal defect, Secundum atrial septal def... |
OMIM:600987 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Dextrocardia, Situs i... |
OMIM:615994 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Ventricular septal defect, Cleft palate, Ectopic anus, Aniridia, High... |
ORPHA:251038 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, High, narrow palate, Hand cle... |
OMIM:616920 |
Char Syndrome |
|
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Ventricular septal defect... |
ORPHA:46627 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect... |
ORPHA:1913 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Nonimmune hydrops fetalis, Pallor |
OMIM:266200 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Postaxial polydactyly, Abnormally large globe, Hydrocephalus, Atrial s... |
OMIM:603387 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Atrial septal defect, Arachnodactyly, Bicuspid aortic valve, Postaxial polydactyly, Tapered finge... |
OMIM:619721 |
Insulin-Like Growth Factor I, Resistance To |
|
Rieger anomaly, Sandal gap, Ventricular septal defect, Small hand, Short foot, High palate, Short... |
OMIM:270450 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Bowing of the long bones, Abnormal heart valve morphology, Tarsal synostosis, Shor... |
ORPHA:90652 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Polyhydramnios, High palate, Clinod... |
ORPHA:3103 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, 1... |
OMIM:617201 |
Subaortic Stenosis-Short Stature Syndrome |
|
Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis, Microphthalmia, Synostosis o... |
ORPHA:3191 |
Evans Syndrome |
|
Pallor, Petechiae |
ORPHA:1959 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Lymphedema, Periorbital edema, Rectal prolapse, Cutaneous finger syndactyly, Protein-losing enter... |
OMIM:235510 |
Seckel Syndrome 2 |
|
Clinodactyly of the 5th finger, Microphthalmia |
OMIM:606744 |
8P23.1 Duplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis |
ORPHA:251076 |
Senior-Loken Syndrome 8 |
|
Polydactyly, Pallor |
OMIM:616307 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Overlapping fingers, Ventricular septal defect, Rocker bottom foot, Optic nerve hypoplasia, Coxa ... |
OMIM:301056 |
Joubert Syndrome 16 |
|
Encephalocele, Polydactyly |
OMIM:614465 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Sandal gap, 3-4 finger cutaneous syndactyly, Cleft palate, High palate... |
OMIM:612530 |
Lambotte Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Preaxial foot polydactyly, Semilobar ... |
OMIM:245552 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Scapular winging, Ventricular septal defect, Single transverse palmar crease, Micromelia, Monkey ... |
OMIM:618870 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Hip dysplasia, Microphthalmia, Intrauterine... |
ORPHA:494344 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ... |
OMIM:615779 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna... |
OMIM:142900 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Cardiomegaly, Hydrocephalus, Cleft palate, Pallor, Microphthalmia, Con... |
ORPHA:137675 |
3C Syndrome |
|
Finger syndactyly, Ventricular septal defect, Abnormal mitral valve morphology, Intestinal malrot... |
ORPHA:7 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Toe syndactyly, Arachnodactyly, Overlapping toe, Ventric... |
ORPHA:505237 |
Martsolf Syndrome 1 |
|
Short metacarpal, Metatarsus adductus, Slender ulna, Short toe, Osteopathia striata, Broad finger... |
OMIM:212720 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Micromelia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postaxial hand polydact... |
ORPHA:93271 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Edema, Polyhydramnios, Epiphyseal stippling, Abnormal pelvic g... |
OMIM:302960 |
Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
Fanconi Anemia, Complementation Group R |
|
Tethered cord, Radial dysplasia, Absent thumb, Hydrocephalus, Microphthalmia, Anal atresia |
OMIM:617244 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Ventricular septal defect, Polyhydramnios, Aplasia/Hyp... |
ORPHA:2256 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Toe syndactyly, Mitral stenosis, Camptodactyly of finger, Ventr... |
ORPHA:2008 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease... |
ORPHA:3472 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Intrauterine growth retardation, Microphthalmia, Oligohydramnios |
ORPHA:228390 |
Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Pallor, Skin ulcer |
ORPHA:848 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Paresis of extensor muscles of the big toe, Abnormality of the hand, Hand muscle weakness, Abnorm... |
ORPHA:99947 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Limited elbow extension and supination, Ventricular septal defect, Intestinal malrotation, Short ... |
ORPHA:401935 |
Fanconi Anemia, Complementation Group C |
|
Ventricular septal defect, Anemic pallor, Absent thumb, Absent radius, Short thumb, Microphthalmi... |
OMIM:227645 |
Limb Body Wall Complex |
|
Cutaneous finger syndactyly, Atrial septal defect, Aplasia of the proximal phalanges of the hand,... |
ORPHA:2369 |
Basal Cell Nevus Syndrome 1 |
|
Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Hamartomatous stomach polyps, I... |
OMIM:109400 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Atrial septal defect, Overlapping toe, Single transverse palmar crease, Ventri... |
ORPHA:464738 |
Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Postaxial hand polydactyly, Hydrocephalus, Cleft palate, Bi... |
OMIM:610829 |
Fanconi Anemia |
|
Abnormal femur morphology, High palate, Triphalangeal thumb, Atrial septal defect, Clinodactyly o... |
ORPHA:84 |
Temtamy Syndrome |
|
Hip dislocation, Short 2nd toe, Talipes equinovarus, Microphthalmia, Brachydactyly |
OMIM:218340 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
9Q21.13 Microdeletion Syndrome |
|
Abnormal tongue morphology, Abnormal heart morphology, Hip dysplasia, Syringomyelia, Polydactyly |
ORPHA:531151 |
Refsum Disease |
|
Short metacarpal, Hammertoe, Abnormal epiphysis morphology, Microphthalmia, Dry skin |
ORPHA:773 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Ventricular septal defect, Submucous cleft soft palate, Aplasia... |
OMIM:608670 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
Bohring-Opitz Syndrome |
|
Syndactyly, Bilateral cleft palate, Overlapping toe, Ulnar deviation of the wrist, Ventricular se... |
OMIM:605039 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, High palate, Cleft palate |
ORPHA:1135 |
Joubert Syndrome 10 |
|
Postaxial polydactyly |
OMIM:300804 |
Leishmaniasis |
|
Pallor, Skin ulcer |
ORPHA:507 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, High palate, Pallor |
OMIM:600462 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Dry skin, Cutis laxa |
OMIM:612379 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Esophageal ... |
OMIM:206900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Microphthalmia, Hydrocephalus |
OMIM:613153 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Optic nerve hypoplasia, Hydrocephalus, Macroglossia, Cardiomyopathy, Mic... |
ORPHA:370959 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Short palm, Clinodactyly of the 5th finger, Atrioventricular canal defect,... |
ORPHA:508498 |
Orofaciodigital Syndrome V |
|
Sandal gap, Ventricular septal defect, Postaxial polydactyly, Hamartoma of tongue, Aganglionic me... |
OMIM:174300 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Short thumb, Cleft palate, Mitral valve prola... |
OMIM:612561 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Short Stature-Micrognathia Syndrome |
|
Rhizomelia, Ventricular septal defect, Bowing of the legs, Coxa valga, Metaphyseal widening, 2-3 ... |
OMIM:617164 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Syndactyly, Premature skin wrinkling |
ORPHA:1942 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Clinodactyly of the 5th finger, High palate, Ventricular septal defect |
OMIM:314320 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Overlapping toe, Down-sloping shoulders, Ventricular septal defect, Tapered finger, High palate, ... |
OMIM:617452 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Intestinal malrotation, Polyhydramnios, Postaxial hand polydactyly, Hydrocephalus,... |
ORPHA:2166 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Failure of eruption of permanent teeth, Submucous cleft hard palate, Cleft palate, ... |
ORPHA:2250 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Micromelia, Postaxial polydactyly, Hamartoma of tongue, Polyhydramnios, Hydroc... |
OMIM:616546 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crea... |
OMIM:272950 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Hypoplastic left heart, Micromelia |
ORPHA:2772 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, High palate, Atrial septal defect, Tetralogy ... |
OMIM:612946 |
Degcags Syndrome |
|
Polyhydramnios, High palate, Pallor, Atrial septal defect, Patent foramen ovale, Syndactyly, Hiat... |
OMIM:619488 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Postaxial polydactyly, Hamartoma of tongue, Esophageal diverticulum, Complete atriov... |
OMIM:617925 |
Primary Myelofibrosis |
|
Ecchymosis, Pallor, Petechiae, Purpura |
ORPHA:824 |
C Syndrome |
|
Short metacarpal, Toe syndactyly, Ventricular septal defect, Micromelia, Postaxial hand polydacty... |
OMIM:211750 |
Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
Fanconi Anemia, Complementation Group F |
|
Atrial septal defect, Polyhydramnios, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 fi... |
OMIM:603467 |
Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... |
ORPHA:1209 |
Fanconi Anemia, Complementation Group E |
|
Anemic pallor, Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of ... |
OMIM:600901 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
High palate, Ventricular septal defect, Fifth finger distal phalanx clinodactyly |
ORPHA:3369 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Ventricular septal defect, Cleft palate |
ORPHA:398156 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, B... |
ORPHA:2211 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, 2-3 toe syndactyly, Cleft palate, Fur... |
OMIM:616449 |
Retinitis Pigmentosa 89 |
|
Esophageal varix, Bicuspid aortic valve, Postaxial polydactyly |
OMIM:618955 |
Joubert Syndrome 20 |
|
4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Abnormal palmar dermatoglyphics, Cleft palate, Atrial septal defect, Microphthalmia, Intrauterine... |
ORPHA:2728 |
Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial dupli... |
OMIM:227646 |
Emanuel Syndrome |
|
Congenital hip dislocation, Truncus arteriosus, Ventricular septal defect, Delayed eruption of pr... |
OMIM:609029 |
Megabladder, Congenital |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... |
OMIM:618719 |
Nance-Horan Syndrome |
|
Microphthalmia, Short metacarpal |
ORPHA:627 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Lobulated tongue, Syndactyly, Postaxial foot polydactyly, Abnormal cardi... |
OMIM:249000 |
Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Ulnar bowing, Shortening of all distal phalanges of the fingers, Epiphyse... |
OMIM:619135 |
Joubert Syndrome 37 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:619185 |
Fetal Alcohol Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Atrial septal defect, Cleft palate |
ORPHA:1915 |
Weill-Marchesani Syndrome |
|
Ventricular septal defect, Short thumb, Pulmonic stenosis, Aortic valve stenosis, Brachydactyly |
ORPHA:3449 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Overlapping toe, Ventricular septal defect, Parachute mitral valve, Intestinal malrotat... |
OMIM:618316 |
Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology, Autoamputation of digits, Cleft palate, Honeycomb palmoplantar h... |
ORPHA:494 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly |
ORPHA:313781 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Contractural Arachnodactyly, Congenital |
|
Hip contracture, Bowing of the long bones, Arachnodactyly, Bicuspid aortic valve, Ventricular sep... |
OMIM:121050 |
Stevenson-Carey Syndrome |
|
Hip dysplasia, Camptodactyly, Atrial septal defect, Microphthalmia, Joint contracture of the hand |
OMIM:611961 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, 2-3 toe syndactyly, High palate, Talipes equinovarus, Clinodactyly of ... |
ORPHA:3306 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Bicuspid aortic valve, Unilateral microphthalmos, Anal atresia |
OMIM:619318 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal spinal cord morphology, Acral ulceration, Skin ulcer |
ORPHA:139578 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Polyhydramnios, Preaxial polydactyly, Femoral bowing, Short lo... |
OMIM:615503 |
Pentalogy Of Cantrell |
|
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Abnormal tibia morphol... |
ORPHA:1335 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens, Ventricular septal defect |
ORPHA:85194 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Cleft palate, Glossoptosi... |
ORPHA:1393 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Congenital hip dislocation, Truncus arteriosus, Ventricular septal def... |
ORPHA:96170 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Atrial septal defect, Broad hallux, Overlapping toe, Camptodactyly of finger, Ventric... |
OMIM:300963 |
Atelis Syndrome 1 |
|
Atrial septal defect, High palate, Dry skin, Ventricular septal defect |
OMIM:620184 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Hydrocephalus, Dilated cardiomyopathy, Erythema, Mitral valve prolapse, Abnormal ca... |
ORPHA:2556 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Clinodactyly of the 5th finger, Atrial septal defect, Ventricular septal defect, Overlapping toe |
OMIM:618974 |
Joubert Syndrome 7 |
|
Encephalocele, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum |
OMIM:611560 |
Fraser Syndrome |
|
Encephalocele, Finger syndactyly, Anal stenosis, Toe syndactyly, Anophthalmia, Anal atresia, Myel... |
ORPHA:2052 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly |
OMIM:615761 |
Fanconi Anemia, Complementation Group A |
|
Anemic pallor, Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of ... |
OMIM:227650 |
Craniofaciofrontodigital Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morp... |
ORPHA:363705 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Clinodactyly, Proximal placement of thumb |
OMIM:617883 |
Warsaw Breakage Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, 2-3 toe syndactyly, High palate, Clin... |
OMIM:613398 |
Chromosome 5Q12 Deletion Syndrome |
|
Long toe, Ventricular septal defect, Long fingers, Increased nuchal translucency, Macroglossia, A... |
OMIM:615668 |
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 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Atrial septal defect, Ventricular septal defect, Rocker bottom foot, Hydrocephalus, Sh... |
OMIM:612582 |
19P13.3 Microduplication Syndrome |
|
Ventricular septal defect, Long fingers, Hip dislocation, Cleft palate, Hip dysplasia, Intrauteri... |
ORPHA:447980 |
Recombinant Chromosome 8 Syndrome |
|
Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis, Camptoda... |
OMIM:179613 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Abnormal hip bone morphology |
ORPHA:1166 |
Diamond-Blackfan Anemia |
|
Ventricular septal defect, Cleft soft palate, Nonimmune hydrops fetalis, Absent thumb, Short thum... |
ORPHA:124 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ulnar deviation of the hand, Ventricular septal defect, Proximal placement of thumb, Patent foram... |
OMIM:620113 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Patellar hypoplasia, Atrial septal de... |
OMIM:619189 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Single transverse palmar crea... |
OMIM:607932 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
Cockayne Syndrome Type 1 |
|
Anophthalmia, Delayed eruption of primary teeth |
ORPHA:90321 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... |
OMIM:153400 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypop... |
OMIM:617895 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia, High palate, Broad hallux, Single transverse palmar crease |
OMIM:614105 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... |
OMIM:217095 |
Rhombencephalosynapsis |
|
Finger syndactyly, Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Hydrocephalu... |
ORPHA:59315 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect |
OMIM:613759 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Edema, Cleft palate, Upper limb asymmetry, Umbilical hernia, Microphthalmia |
ORPHA:2505 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Pallor |
OMIM:611590 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Polyhydramnios, Perimembranous ventricular septal defect, High palate,... |
OMIM:606812 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Cleft palate, Hy... |
OMIM:100300 |
Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
Noonan Syndrome 8 |
|
Atrial septal defect, Ventricular septal defect, Polyhydramnios, Pleural effusion, Pulmonic steno... |
OMIM:615355 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Central Y-shaped metacarpal, Preaxial pol... |
ORPHA:2754 |
Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe... |
OMIM:612562 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia |
OMIM:167730 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Esophageal Atresia |
|
Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Pyloric ste... |
ORPHA:1199 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Small hand, Cleft palate, Anteriorly placed anu... |
OMIM:619980 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Striae distensae, Ventricular septal defect, Microspherophakia, Short metatarsa... |
OMIM:608328 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Single transverse palmar crease, Ventricular septal ... |
ORPHA:329224 |
Aase-Smith Syndrome I |
|
Ventricular septal defect, Hydrocephalus, Cleft palate, Talipes equinovarus, Slender finger |
OMIM:147800 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Single transverse palmar crease, Polyhydramnios, Cleft palate, Abnorma... |
OMIM:247200 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Cleft palate, Right ventricular hypertrophy, Atrial septal defect, Cli... |
OMIM:614261 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Intestinal... |
OMIM:613091 |
Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand |
OMIM:245800 |
Congenital Fibrinogen Deficiency |
|
Clubbing of fingers, Left ventricular hypertrophy, Microphthalmia, Volvulus, Right ventricular hy... |
ORPHA:335 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Brachydactyly, Sandal gap, Broad hallux, Microphthalmia, Clinodactyly, 3-4 toe syndactyly |
OMIM:618727 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Bilateral single transverse palmar creases, Ventricular septal defect, Cleft palate, Large hands,... |
ORPHA:1770 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Ventricular septal defect, Rocker bottom foot, Proximal placement of thumb, Hi... |
OMIM:619762 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Cleft palate |
OMIM:616898 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect, Postaxial hand polydactyly, Hydrocephalus, Cone-shaped epiphyses of th... |
OMIM:615630 |
Galloway-Mowat Syndrome 3 |
|
Arachnodactyly, Edema, Hiatus hernia, Hip dislocation, Oligohydramnios, High palate, Camptodactyl... |
OMIM:617729 |
Fryns Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Polyhydramnios, Atrial septal defec... |
OMIM:229850 |
Stromme Syndrome |
|
Jejunal atresia, Optic nerve hypoplasia, Intestinal malrotation, Hydrocephalus, Preaxial polydact... |
OMIM:243605 |
Costello Syndrome |
|
Ventricular septal defect, Redundant skin, Polyhydramnios, Lack of skin elasticity, Narrow palate... |
ORPHA:3071 |
Idiopathic Pulmonary Hemosiderosis |
|
Pallor, Cardiomegaly |
ORPHA:99931 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... |
OMIM:607941 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Bowing of the long bones, Toe syndactyly, Arachnodactyly, Sandal gap, Camptoda... |
ORPHA:261330 |
Fryns Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Polyhydramnios, Cleft palate, Duodenal atresia, Ab... |
ORPHA:2059 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Small hand, Short foot, Severe intrauterine growth retardation, Short palm, Microphthalmia, Bifid... |
OMIM:241410 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Lymphedema |
OMIM:152950 |
Mend Syndrome |
|
Overlapping toe, Broad hallux, Long fingers, Hydrocephalus, 2-3 toe syndactyly, Cleft palate, Abn... |
ORPHA:401973 |
Nephrotic Syndrome, Type 11 |
|
Ventricular septal defect, Arachnodactyly, Partial duplication of thumb phalanx, Dilated cardiomy... |
OMIM:616730 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Atrial septal defect, Stomach cancer, Polyhydramnios, Increased nuchal tran... |
ORPHA:1052 |
Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Meige Disease |
|
Lymph node hypoplasia, Pleural effusion, Absence of lymph node germinal center |
ORPHA:90186 |
19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Ventricular septal defect, Toe cli... |
ORPHA:217346 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Camptodactyly, Atrial septal defe... |
OMIM:617360 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the g... |
OMIM:253800 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries, Cl... |
OMIM:231060 |
Waldenström Macroglobulinemia |
|
Periorbital edema, Pedal edema, Pallor, Pleural effusion, Purpura |
ORPHA:33226 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Cleft palate, Ab... |
ORPHA:453499 |
8Q12 Microduplication Syndrome |
|
Short foot, Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Atrial septal defect, Sandal gap, Ventricular septal defect,... |
ORPHA:254346 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia |
OMIM:601794 |
Beta-Ketothiolase Deficiency |
|
Pallor, Edema, Dehydration |
ORPHA:134 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Short 5th finger, Ac... |
ORPHA:500159 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Abnormal heart... |
OMIM:184705 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Duplication of phalanx of hallux, Bicuspid aortic valve, Aortic valve stenosis |
OMIM:243310 |
Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
High palate, Postaxial polydactyly |
ORPHA:544254 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Ventricular septal defect, Short hallux, Proxi... |
ORPHA:2438 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Dilated cardiomyopathy |
OMIM:618805 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Optic disc hypoplasia, Absent thumb, Esophageal atresia, Hydrocephalus... |
OMIM:300514 |
Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
Myhre Syndrome |
|
Atrial septal defect, Overlapping toe, Ventricular septal defect, Pericardial effusion, Short toe... |
OMIM:139210 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... |
OMIM:210710 |
Frank-Ter Haar Syndrome |
|
Redundant neck skin, Abnormally large globe, Secundum atrial septal defect, High palate, Short pa... |
OMIM:249420 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Grange Syndrome |
|
Syndactyly, Ventricular septal defect, Short palm |
ORPHA:79094 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Aqueductal stenosis, Dextrotranspositio... |
OMIM:306955 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Postaxial polydactyly |
OMIM:615985 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Ventricular septal defect, Esophageal varix, Foot oligodactyly, Truncus arteriosus, B... |
OMIM:616589 |
Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Ventricular septal defect, Clinodactyly of the 5th finger,... |
ORPHA:3255 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Tethered cord, Ventricular septal defect, Intest... |
ORPHA:2729 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Intestinal atresia, Abnormal tricuspi... |
ORPHA:3405 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Proteinuria, Unilateral renal agenesis, Renal hypoplasia, Renal cyst, Stage 5 chroni... |
OMIM:137920 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Macular edema, Lymphedema |
ORPHA:891 |
Coffin-Siris Syndrome 7 |
|
Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Oligohydramnios, Clinodactyly o... |
OMIM:618027 |
Agammaglobulinemia, X-Linked |
|
Recurrent pneumonia, Epididymitis, Bronchiectasis, Bronchiolitis obliterans, Lymph node hypoplasi... |
OMIM:300755 |
Orofaciodigital Syndrome I |
|
Syndactyly, Hamartoma of tongue, Myelomeningocele, Hydrocephalus, Cleft palate, Abnormal heart mo... |
OMIM:311200 |
Purine Nucleoside Phosphorylase Deficiency |
|
Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Lymph node hypoplasia, Rec... |
OMIM:613179 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Ventricular septal defect, Cleft palate, Short 5th finger, High palate, Tri... |
OMIM:220500 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb, Anteriorly place... |
ORPHA:1488 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Hi... |
OMIM:271640 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
Mend Syndrome |
|
Redundant neck skin, Overlapping toe, Broad hallux, Long fingers, Hydrocephalus, 2-3 toe syndacty... |
OMIM:300960 |
Joubert Syndrome 27 |
|
Polydactyly |
OMIM:617120 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Ventricular septal defect, Intestinal malrotation, Oligohydramnios, T... |
ORPHA:2970 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ... |
OMIM:617866 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Epiphyseal stippling, Talip... |
ORPHA:35173 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia |
OMIM:615636 |
Proboscis Lateralis |
|
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, High palate, Holoprosencephaly, ... |
ORPHA:141099 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... |
OMIM:101200 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Broad long bones, Fifth finger distal phalanx clinodactyly, 4-5 finger syndactyly, 3-4 finger cut... |
OMIM:257850 |
Jansen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Small hand, Short foot, Brachydactyly |
OMIM:617450 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Pyloric stenosis, Microphthalmia, Meckel diverticulum, Intrauterine growth retardation |
OMIM:616395 |
Jacobsen Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pyloric stenosis, Hydrocephalus, Macular hypopla... |
OMIM:147791 |
Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Pallor |
OMIM:615234 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Sandal gap, Ventricular septal defect, 2-3 toe syndactyl... |
ORPHA:477817 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Complete atrioventricular canal defect, Genu valgum, Limb undergrowth, Atr... |
OMIM:619142 |
Larsen Syndrome |
|
Short metacarpal, Ventricular septal defect, Spatulate thumbs, Elbow dislocation, Spinal cord com... |
OMIM:150250 |
Sepsis In Premature Infants |
|
Edema, Pallor, Petechiae, Purpura |
ORPHA:90051 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Burn-Mckeown Syndrome |
|
Ventricular septal defect, 2-3 toe syndactyly, Cleft palate, Atrial septal defect, Bifid uvula |
OMIM:608572 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
Chromosome 18Q Deletion Syndrome |
|
Toe syndactyly, Overlapping toe, Rocker bottom foot, Proximal placement of thumb, Absence of the ... |
OMIM:601808 |
Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Ventricular septal defect, Tarsal synostosis, Aganglionic megacolon, Postaxial... |
ORPHA:2473 |
Plummer-Vinson Syndrome |
|
Glossitis, Tongue atrophy, Esophageal web, Pallor |
ORPHA:54028 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Overlapping toe, Cleft palate, Abnormal heart morphology |
OMIM:618571 |
Chromosome 9P Deletion Syndrome |
|
Long toe, Sandal gap, Ventricular septal defect, Hallux varus, Tapered finger, High, narrow palat... |
OMIM:158170 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Scapular winging, Sandal gap, Single transverse palmar crease, Ventricular ... |
OMIM:617061 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Brachydactyly, Aplasia of the distal phalanx of the 5th toe, Oligohydramnios, Cleft palate, Aplas... |
ORPHA:364577 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Tetralogy of Fallot, Ventricular septal defect, Intestinal malrotation |
ORPHA:2328 |
Catel-Manzke Syndrome |
|
Single transverse palmar crease, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid... |
OMIM:616145 |
Nance-Horan Syndrome |
|
Microphthalmia, Short phalanx of finger, Broad finger |
OMIM:302350 |
Rabson-Mendenhall Syndrome |
|
Ventricular septal defect, Furrowed tongue, Cardiomyopathy, Advanced eruption of teeth, Macroglos... |
ORPHA:769 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Intraut... |
ORPHA:1923 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Hydrocephalus, Hypoplasia of the iris, Subvalvular aortic stenosis, At... |
OMIM:613001 |
Vater/Vacterl Association |
|
Occipital encephalocele, Syndactyly, Tethered cord, Ventricular septal defect, Spina bifida, Abse... |
OMIM:192350 |
Osteopathia Striata With Cranial Sclerosis |
|
Polyhydramnios, Osteopathia striata, High palate, Atrial septal defect, Clinodactyly of the 5th f... |
OMIM:300373 |
Tarp Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Cl... |
ORPHA:2886 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Ventricular septal defec... |
ORPHA:1458 |
Lateral Meningocele Syndrome |
|
Tethered cord, Ventricular septal defect, Bicuspid aortic valve, Hydrocephalus, Meningocele, Clef... |
OMIM:130720 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Intrauterine growth retardation, Postaxial polydactyly, Oligohydramnios |
OMIM:615824 |
Galloway-Mowat Syndrome 1 |
|
Hiatus hernia, Hypoplasia of the iris, High palate, Talipes equinovarus, Camptodactyly, Hand clen... |
OMIM:251300 |
Developmental And Epileptic Encephalopathy 66 |
|
Clinodactyly of the 5th finger, Atrial septal defect, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
Yuan-Harel-Lupski Syndrome |
|
Bicuspid aortic valve, Sandal gap, Ventricular septal defect, Syringomyelia, High palate, Clinoda... |
OMIM:616652 |
Joubert Syndrome 2 |
|
Encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, High palate... |
OMIM:608091 |
Chromosome 13Q14 Deletion Syndrome |
|
Overlapping toe, Single transverse palmar crease, Ventricular septal defect, Patent foramen ovale... |
OMIM:613884 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Polyhydramnios, High, narrow palate, High palate, Hypoplastic il... |
OMIM:180849 |
Koolen-De Vries Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Pyloric stenosis, Hypotro... |
OMIM:610443 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Micromelia, Abnormal heart va... |
ORPHA:289 |
Pallister-Hall Syndrome |
|
Holoprosencephaly, Atrial septal defect, Atrioventricular canal defect, Bifid uvula, Mesoaxial po... |
ORPHA:672 |
Woods Syndrome |
|
Ventricular septal defect, Limited elbow extension, 3-4 finger cutaneous syndactyly, Single trans... |
OMIM:615236 |
Roberts-Sc Phocomelia Syndrome |
|
Polyhydramnios, Tetraphocomelia, High palate, Atrial septal defect, Phocomelia, Wrist flexion con... |
OMIM:268300 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Atrial septal defect, Arachnodactyly, Spina bifida, Umbilical hernia, Truncus art... |
ORPHA:567 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Dilated cardiomyopathy, Pallor, Edema, Dehydration |
ORPHA:20 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Ventricular septal defect, Partial duplication of thumb ph... |
OMIM:164210 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Intrauterine growth retar... |
OMIM:617021 |
Hogue-Janssen Syndrome 2 |
|
Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Deviation of the 5th finger |
OMIM:616362 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Calcaneal epiphyseal stippling, Optic disc hypoplasia, Optic nerve hypoplasia, Ventricular septal... |
ORPHA:79345 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect |
ORPHA:306550 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Intrauterine growth retardation, Increased nuchal translucency, Ventricular septal defect |
OMIM:617635 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Lymphedema, Postaxial hand polyda... |
OMIM:235255 |
Dominant Beta-Thalassemia |
|
Bowing of the long bones, Dilated cardiomyopathy, Skin ulcer, Genu valgum, Pallor |
ORPHA:231226 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Aganglionic megacolon, Ventricular septal defect, Tapered finger, Interphalangeal thumb joint con... |
OMIM:613870 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Polyhydramnios, Ventricular septal defect, Postaxial polydactyly |
OMIM:219730 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Malrotation of colon,... |
OMIM:113620 |
Fontaine Progeroid Syndrome |
|
Syndactyly, Atrial septal defect, Dermal translucency, Bicuspid aortic valve, Redundant skin, Pro... |
OMIM:612289 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Spina bifida, Abnormality of the hand, High, narrow palate, Metaphyseal widening, Na... |
OMIM:234100 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, ... |
ORPHA:464 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Abnormally large globe, Postaxial... |
ORPHA:1655 |
Mosaic Trisomy 16 |
|
Syndactyly, Ventricular septal defect, Single transverse palmar crease, Large placenta, Short thu... |
ORPHA:1708 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Postaxial hand polydactyly, Ventricular se... |
ORPHA:75389 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Microphthalmia, Erythema, Pallor |
OMIM:308300 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymph node hypoplasia, Pneumonia, Absent tonsils |
ORPHA:276 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve, Intrauterine growth retardation |
OMIM:617751 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Beta-Thalassemia Intermedia |
|
Spinal cord compression, Pallor, Skin ulcer |
ORPHA:231222 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Single transverse palmar crease, 2-3 toe syndactyly, Cleft palate, Joint contracture of the 5th f... |
OMIM:620098 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, High, narrow palate, Meningocele, Dural ectasia, Syringomyelia, High p... |
ORPHA:2789 |
Down Syndrome |
|
Redundant neck skin, Single transverse palmar crease, Hypoplastic iliac wing, Atrial septal defec... |
OMIM:190685 |
Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Palmoplantar hyperkeratosis, Tibial bowing, Short foot, Slender long bone, Corneal... |
OMIM:601812 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor, Edema |
ORPHA:329971 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Atrial septal defect, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventri... |
OMIM:300998 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Bifid distal phalanx of the thumb, Esophageal atresia, Double outlet r... |
ORPHA:2209 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Cutis laxa... |
OMIM:614099 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Limb undergrowth, Intrauterine growth retardation, Ventricular septal defect, Single transverse p... |
ORPHA:79243 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Lymphedema, Hydrops fetalis, Atrial septal defect, O... |
OMIM:601927 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Foot oligodactyly, Triphalangeal thumb, Bro... |
OMIM:154400 |
Warburg Micro Syndrome 2 |
|
Overlapping toe, Microphthalmia, Clinodactyly of the 4th toe, Clinodactyly of the 5th toe |
OMIM:614225 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly... |
OMIM:263520 |
Radio-Tartaglia Syndrome |
|
Ventricular septal defect, Tapered finger, High, narrow palate, High palate, Dry skin, Striae dis... |
OMIM:619312 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect, Talipes equinovarus |
OMIM:209770 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Atrial septal defect, Arachnodactyly, Sandal gap, Ventricular septal defect, Intestinal malrotati... |
OMIM:617602 |
3Q29 Microdeletion Syndrome |
|
Tapered finger, High palate, Subvalvular aortic stenosis, Clinodactyly of the 5th finger, Microph... |
ORPHA:65286 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Polyhydramnios, Large placenta, Abnormal heart morphology, Umbilical h... |
ORPHA:254534 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Polyhydramnios, Holoprosencephaly, Advanced eruption of teeth, Atria... |
ORPHA:818 |
Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Metaphyseal widening, Abnormal tibia morphology, Abnor... |
ORPHA:321 |
Idiopathic Hypereosinophilic Syndrome |
|
Swelling of proximal interphalangeal joints, Malabsorption, Angioedema, Dilated cardiomyopathy, C... |
ORPHA:3260 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Clinodactyly of the 5th finger, Microphthalmia |
OMIM:617306 |
Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... |
OMIM:600373 |
Refractory Anemia With Excess Blasts |
|
Anemic pallor, Pedal edema |
ORPHA:86839 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Palmar pits, Hydrocephalus, Cardiac fibroma, Polydactyly, Microphthalm... |
ORPHA:77301 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Ventricular septal defect |
OMIM:618330 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Ventricular septal defect, Cleft palate |
OMIM:620210 |
Myopathy, Mitochondrial, And Ataxia |
|
High palate, Pallor |
OMIM:617675 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect, Abnormally large globe |
OMIM:618504 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Polyhydramnios, Hydrocephalus, Aplasia/Hypoplasia involving the pelvis, Mi... |
ORPHA:3301 |
Oculo-Palato-Cerebral Syndrome |
|
High, narrow palate, Small hand, Cleft palate, Short foot, Microphthalmia, Intrauterine growth re... |
ORPHA:2714 |
Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Ventricular septal defect, Camptodactyly of finger, Abnormalit... |
ORPHA:3138 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation |
OMIM:617914 |
Lethal Congenital Contracture Syndrome 2 |
|
Polyhydramnios, Dilated cardiomyopathy, Ventricular septal defect, Edema |
OMIM:607598 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor |
ORPHA:90033 |
Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Short hall... |
ORPHA:2710 |
Microphthalmia, Lenz Type |
|
Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morphology, Clinodactyly of the 5th... |
ORPHA:568 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Celiac disease, Abnorm... |
ORPHA:284169 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Single transverse palmar crease, Hydrocephalus, Clef... |
OMIM:309801 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Hip dislocation, Tracheoesophageal fistula |
OMIM:619083 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Unilateral microphthalmos, Mitral valve prolapse, Bilateral cleft lip and palate, High palate, An... |
OMIM:618874 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Umbilical hernia, Ventricular septal defect, Optic nerve hypoplasia |
OMIM:615879 |
Mosaic Trisomy 20 |
|
Ventricular septal defect, Down-sloping shoulders, Abnormal spinal cord morphology, Dysplastic tr... |
ORPHA:1724 |
Oculodentodigital Dysplasia |
|
Atrial septal defect, 4-5 finger syndactyly, Hip dislocation, Cleft palate, High palate, Joint co... |
OMIM:164200 |
Donnai-Barrow Syndrome |
|
Umbilical hernia, Ventricular septal defect, Intestinal malrotation |
ORPHA:2143 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Dermal translucency, Congenital hip dislocation, Ventricular septal de... |
ORPHA:2962 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia, Bilateral microphthalmos |
ORPHA:2399 |
Von Hippel-Lindau Syndrome |
|
Papillary cystadenoma of the epididymis, Pulmonary capillary hemangiomatosis, Multiple renal cyst... |
OMIM:193300 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Lactose intolerance, Sandal gap, Ventricular septal defect, Small hand... |
OMIM:619229 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Atrial septal defect, Toe syndactyly, Bicuspid aortic valve, Single transverse palmar crease, Pro... |
OMIM:610759 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Cleft palate, Buphthalmos, Macroglossia, Microphthalmia |
OMIM:613150 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, High, narrow palate, Preaxial polydactyly, Coxa vara, Cutaneous ... |
OMIM:614976 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Bicuspid aortic valve, Optic nerve hypoplasia, Postaxial polyda... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Bicuspid aortic valve, Optic nerve hypoplasia, Postaxial polyda... |
ORPHA:352665 |
Beta-Thalassemia Major |
|
Bowing of the long bones, Dilated cardiomyopathy, Skin ulcer, Genu valgum, Pallor |
ORPHA:231214 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia, Skin ulcer |
ORPHA:1806 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Ventricular septal defect, Pyloric stenosis, Oligo... |
ORPHA:464306 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Anophthalmia, Bicuspid aortic valve, Abnormal palmar dermatoglyphics, Down-sloping sh... |
OMIM:309800 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Tibial bowing, Shoulder dislocation, High palate, Short phalanx of finger, Bilateral single trans... |
OMIM:143095 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Cleft palate, High palate, Camptodactyly, Microphthalmia, Absent pa... |
OMIM:614230 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Dilated... |
OMIM:619343 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Abnormal acetabulum morphology, Redundant neck skin, Postaxial polydacty... |
ORPHA:397715 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe |
OMIM:615249 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Warburg Micro Syndrome 3 |
|
Clinodactyly of the 5th finger, Microphthalmia, Narrow palate |
OMIM:614222 |
Noonan Syndrome 10 |
|
Atrial septal defect, Ventricular septal defect, Increased nuchal translucency, Mitral valve prol... |
OMIM:616564 |
Autosomal Recessive Robinow Syndrome |
|
Abnormal tricuspid valve morphology, Atrial septal defect, Clinodactyly of the 5th finger, Bilate... |
ORPHA:1507 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Pedal edema, Perimembranous ventricular sept... |
ORPHA:99095 |
Sotos Syndrome |
|
Ventricular septal defect, High, narrow palate, Muscular ventricular septal defect, Long metacarp... |
OMIM:117550 |
X Small Rings |
|
Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Tapered finger, 2-3 toe syndact... |
ORPHA:96201 |
Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Ventricular ... |
OMIM:618619 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:617992 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Aniridia, Pallor |
ORPHA:29072 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
Fanconi Anemia, Complementation Group L |
|
Absent thumb, Absent radius, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Cleft ... |
OMIM:614083 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Cleft palate |
OMIM:214300 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Atrial septal defect, Bifid uvula, Syndactyly, A... |
OMIM:610168 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Finger c... |
ORPHA:508488 |
Short Stature And Facioauriculothoracic Malformations |
|
High palate, Ventricular septal defect, Cleft palate |
OMIM:609654 |
Ohdo Syndrome, X-Linked |
|
Ulnar deviation of the hand, Overlapping toe, Hiatus hernia, Short thumb, Hip dysplasia, High pal... |
OMIM:300895 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Microspherophakia, Broad palm, Narrow palate, Pulmonic stenosis, Broad... |
OMIM:277600 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Polyhydramnios, High palate, Cervical cord compression, Atrial septal defe... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Polyhydramnios, High palate, Cervical cord compression, Atrial septal defe... |
ORPHA:353277 |
Hereditary Spherocytosis |
|
Restrictive cardiomyopathy, Pallor, Skin ulcer |
ORPHA:822 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Broad hallux, Ventricular septal defect, Small hand, Cleft palate, Tibial bowing, Short foot, Bro... |
ORPHA:251028 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Atrial septal defect, Ventricular septal defect, Clinodactyly of the 5th ... |
ORPHA:52 |
Hereditary Folate Malabsorption |
|
Glossitis, Pallor |
ORPHA:90045 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Microphthalmia, Absen... |
ORPHA:284160 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Redundant neck skin, Single transverse palmar crease, Polyhydramnios, Tibial bowing, Hypoplastic ... |
ORPHA:96334 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Aganglionic megacolon, Postaxial polydactyly, High, narrow palate, Postaxial hand pol... |
OMIM:209900 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... |
ORPHA:860 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Ventricular septal defect, Proximal placement of thumb, Preaxial hand polydactyly, Esophageal atr... |
OMIM:610536 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Bowing of the long bones, Abnormal pulmonary valve morphology, Hydroce... |
ORPHA:667 |
Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Ventricular septal defect, Patent foramen ovale, Furrowed tongue, Hip dysplasia, High... |
OMIM:616975 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Single transverse palmar crease, High palate, Atrial septal defect, Clinod... |
OMIM:612474 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Cranioectodermal Dysplasia 2 |
|
Syndactyly, Rhizomelia, Polyhydramnios, Postaxial hand polydactyly, Hydrops fetalis, Cleft palate... |
OMIM:613610 |
Noonan Syndrome 2 |
|
Atrial septal defect, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Increased nucha... |
OMIM:605275 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Pallor |
ORPHA:98870 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Holoprosencephaly, Triphalangeal thumb, Atrial septal defect, 2-4 finger syndac... |
OMIM:107480 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia, Ventricular septal defect |
OMIM:234050 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal hand morphology, Osteolysis involving ... |
ORPHA:371428 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, Cleft palate, Short foot, Hip... |
OMIM:300968 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Ventricular septal defect, Intestinal malrotation, Ileal atresia, Jejunal... |
OMIM:243150 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Abnormality of the hum... |
ORPHA:3186 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
High palate, Polydactyly, Abnormal heart morphology |
ORPHA:314655 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Short metacarpal, Ventricular septal defect, Metaphyseal chondrodysplasia, Intraut... |
ORPHA:166035 |
Distal Deletion 19P |
|
Long toe, Ventricular septal defect, Arachnodactyly, Cleft palate, Tricuspid valve prolapse, Umbi... |
ORPHA:96129 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Persistence of primary teeth, Hiatus hernia, Atrial septal defect, Umb... |
OMIM:619769 |
Au-Kline Syndrome |
|
Overlapping toe, Postaxial polydactyly, Coxa valga, Lipomyelomeningocele, Cleft palate, Deep palm... |
OMIM:616580 |
Kagami-Ogata Syndrome |
|
Atrial septal defect, Ventricular septal defect, Polyhydramnios, Coxa valga, Long fingers, Pulmon... |
OMIM:608149 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Atrial septal defect, Rhizomelia, Single transverse palmar crease, Ventricular septal defect, Sev... |
OMIM:614114 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Situs inversus totalis |
OMIM:249270 |
Micro Syndrome |
|
Microphthalmia, Intrauterine growth retardation, High palate |
ORPHA:2510 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Camptodactyly of finger, Hydrops fetalis, Abnormal heart morphology, C... |
ORPHA:354 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Cleft palate |
OMIM:617616 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Calcaneovalgus deformi... |
ORPHA:3078 |
Transaldolase Deficiency |
|
Ventricular septal defect, Atrial septal defect, Intrauterine growth retardation, Patent foramen ... |
OMIM:606003 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Atrial septal defect, Natal tooth, Broad hallux, Single transverse palmar crease,... |
OMIM:620186 |
Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cutaneous syndactyly, Tetralogy of Fallot, Patent forame... |
OMIM:601005 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... |
ORPHA:221120 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Dextrotransposition of the great arteries, High palate, Ventricular septal defect, Brachydactyly |
OMIM:619995 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
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Ventricular septal defect, Oligohydramnios, Dehydration, Hip dysplasia, Atrial septal defect, Pat... |
OMIM:208085 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
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Microphthalmia, Long fingers, High palate, Cleft palate |
OMIM:156610 |
Sifrim-Hitz-Weiss Syndrome |
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Ventricular septal defect, Tapered finger, Flat acetabular roof, Anteriorly placed anus, Short fe... |
OMIM:617159 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
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Pallor |
ORPHA:276621 |
Ogden Syndrome |
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High, narrow palate, Ventricular septal defect, Broad hallux, Cutis laxa |
ORPHA:276432 |
Jacobsen Syndrome |
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Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Ventricular septal defect, Intestinal ma... |
ORPHA:2308 |
Infection-Related Hemolytic Uremic Syndrome |
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Edema, Intestinal perforation, Myocarditis, Pleural empyema, Pallor, Intussusception, Acute colit... |
ORPHA:544482 |
Dubowitz Syndrome |
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Delayed eruption of teeth, Syndactyly, Single transverse palmar crease, Velopharyngeal insufficie... |
OMIM:223370 |
Pearson Marrow-Pancreas Syndrome |
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Villous atrophy, Malabsorption, Erythema, Hydrops fetalis, Dehydration, Pallor, Steatorrhea |
OMIM:557000 |
Marshall-Smith Syndrome |
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Distal widening of metacarpals, Coxa vara, Anteriorly placed anus, Glossoptosis, High palate, Cer... |
OMIM:602535 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Congenital hip dislocation, Bicuspid aortic valve, Ventricular septal defect, Pyloric stenosis, S... |
ORPHA:457279 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Atrial septal defect, Neonatal dea... |
OMIM:265380 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Encephalocele, Optic nerve hypoplasia, Hydrocephalus, Microphthalmia, Adducted thumb |
OMIM:614643 |
Loeys-Dietz Syndrome 5 |
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Atrial septal defect, Scapular winging, Arachnodactyly, Ventricular septal defect, Cleft soft pal... |
OMIM:615582 |
Holoprosencephaly 7 |
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Bilateral cleft palate, Occipital meningocele, Alobar holoprosencephaly, Hydrocephalus, Bilateral... |
OMIM:610828 |
Cornelia De Lange Syndrome 1 |
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Single transverse palmar crease, Micromelia, Proximal placement of thumb, High, narrow palate, Hi... |
OMIM:122470 |
Recombinant 8 Syndrome |
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Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Redundant skin, Patella... |
ORPHA:96167 |
Alternating Hemiplegia Of Childhood |
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Cardiomyopathy, Pallor, Dehydration |
ORPHA:2131 |
Atelis Syndrome 2 |
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Single transverse palmar crease, Supravalvar pulmonary stenosis, High palate, Pulmonic stenosis, ... |
OMIM:620185 |
Khan-Khan-Katsanis Syndrome |
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Tethered cord, Postaxial polydactyly, Buphthalmos, Intrauterine growth retardation, Clinodactyly,... |
OMIM:618460 |
King-Denborough Syndrome |
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High palate, Ventricular septal defect |
OMIM:619542 |
Helsmoortel-Van Der Aa Syndrome |
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Atrial septal defect, Broad hallux, Sandal gap, Tapered finger, High, narrow palate, Small hand, ... |
OMIM:615873 |
Seckel Syndrome 9 |
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Ventricular septal defect, Polyhydramnios, Talipes equinovarus, Atrial septal defect, Intrauterin... |
OMIM:616777 |
Cardiofacioneurodevelopmental Syndrome |
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Ventricular septal defect, Cleft palate, Pulmonic stenosis, Camptodactyly, Clinodactyly of the 5t... |
OMIM:619123 |
Joubert Syndrome 39 |
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Occipital encephalocele, Hypoplastic left heart, Joint contracture of the 5th finger, Postaxial p... |
OMIM:619562 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
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Toe syndactyly, Bilateral single transverse palmar creases, Ventricular septal defect, Dextrocard... |
OMIM:619657 |
Stankiewicz-Isidor Syndrome |
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Ventricular septal defect, Absent thumb, Short thumb, 2-3 toe syndactyly, Truncus arteriosus |
OMIM:617516 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
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Preaxial polydactyly |
ORPHA:2921 |
Otodental Syndrome |
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Delayed eruption of teeth, Microphthalmia, Lens coloboma |
ORPHA:2791 |
Chime Syndrome |
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Ventricular septal defect, Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hi... |
ORPHA:3474 |
Cardiac Valvular Dysplasia 1 |
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Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Edema, Valvular pulmonary... |
OMIM:212093 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
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Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
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Ventricular septal defect, Arachnodactyly, Talipes equinovarus, Camptodactyly, Atrial septal defect |
OMIM:301039 |
Imerslund-Gräsbeck Syndrome |
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Glossitis, Pallor |
ORPHA:35858 |
Exudative Vitreoretinopathy 2, X-Linked |
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Microphthalmia |
OMIM:305390 |
Ventricular Septal Defect 3 |
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Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
Sacral Defect With Anterior Meningocele |
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Myeloschisis, Tethered cord, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Bi... |
OMIM:600145 |
Right Atrial Isomerism |
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Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... |
OMIM:208530 |
Serkal Syndrome |
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Malrotation of small bowel, Ventricular septal defect, Pulmonic stenosis, Oligohydramnios |
ORPHA:139466 |
Monosomy 13Q14 |
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Aplasia/Hypoplasia of the thumb, Finger syndactyly, Clinodactyly of the 5th finger, Microphthalmi... |
ORPHA:1587 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Pallor |
ORPHA:331206 |
3Mc Syndrome 1 |
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Atrial septal defect, Ventricular septal defect, Single interphalangeal crease of fifth finger, C... |
OMIM:257920 |
Pontocerebellar Hypoplasia, Type 17 |
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Secundum atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
OMIM:619909 |
Congenital Heart Defects, Multiple Types, 6 |
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Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... |
OMIM:613854 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
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Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Hydrocephalus, Cleft palat... |
OMIM:236670 |
Craniofacioskeletal Syndrome |
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Atrial septal defect, Ventricular septal defect, Small hand, Cleft palate, Short foot, Short palm... |
OMIM:300712 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Hallux valgus, Ventricular septal defect, Abnormal pulmonary valve morphology, Cleft soft palate,... |
ORPHA:268261 |
Meier-Gorlin Syndrome 7 |
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2-4 finger syndactyly, Anal stenosis, Ventricular septal defect, Bowing of the legs, Aplasia/Hypo... |
OMIM:617063 |
Van Esch-O'Driscoll Syndrome |
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Atrial septal defect, Ventricular septal defect, Esophageal atresia, Pulmonary valve atresia, Tra... |
OMIM:301030 |
Non-Functioning Pituitary Adenoma |
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Pallor |
ORPHA:91349 |
Congenital Alveolar Capillary Dysplasia |
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Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, ... |
ORPHA:210122 |
Hajdu-Cheney Syndrome |
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Coarse metaphyseal trabecularization, Brachydactyly, Bowing of the long bones, Mitral stenosis, V... |
ORPHA:955 |
Craniofacial Dyssynostosis With Short Stature |
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Pyloric stenosis, Hydrocephalus, Ventricular septal defect |
OMIM:218350 |
Beck-Fahrner Syndrome |
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High palate, Hip dysplasia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crease, Rocker b... |
OMIM:214100 |
Double Outlet Right Ventricle |
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Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig... |
ORPHA:3426 |
22Q11.2 Duplication Syndrome |
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Ventricular septal defect, Cleft palate, Hypoplastic left heart, Transposition of the great arter... |
ORPHA:1727 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Pallor |
ORPHA:300298 |
Donnai-Barrow Syndrome |
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Ventricular septal defect, Intestinal malrotation, Hypoplasia of the iris, Short sternum, Umbilic... |
OMIM:222448 |
Warburg Micro Syndrome 4 |
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Microphthalmia |
OMIM:615663 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Ventricular septal defect, Coxa valga, Tapered finger, Protruding tongue, Macroglossia, Perimembr... |
OMIM:301040 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Polyhydramnios, Narrow greater sciatic notch, Short palm, Atrial septal defect, Exaggerated media... |
OMIM:312870 |
Fixed Subaortic Stenosis |
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Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Ogden Syndrome |
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Congenital hip dislocation, Bicuspid aortic valve, Redundant skin, Redundant neck skin, Cardiomeg... |
OMIM:300855 |
Adnp Syndrome |
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Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morphology, Abnormal fing... |
ORPHA:404448 |
Trichothiodystrophy |
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Ventricular septal defect, High, narrow palate, Bilateral microphthalmos, Clubbing, Cardiomyopath... |
ORPHA:33364 |
Noonan Syndrome 4 |
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Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect, Cubitus valgu... |
OMIM:610733 |
Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
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Delayed eruption of teeth, Ventricular septal defect, Broad 2nd toe, Tetralogy of Fallot, Palmopl... |
OMIM:280000 |
Vitreoretinochoroidopathy |
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Microphthalmia |
OMIM:193220 |
Acrofrontofacionasal Dysostosis 1 |
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Short metacarpal, Microphthalmia, Acetabular dysplasia, Broad thumb, Short distal phalanx of finger |
OMIM:201180 |
Aregenerative Anemia |
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Pallor |
ORPHA:101096 |
Marden-Walker Syndrome |
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Arachnodactyly, Camptodactyly of finger, Ventricular septal defect, Dextrocardia, Metatarsus addu... |
ORPHA:2461 |
Robinow Syndrome, Autosomal Dominant 3 |
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Syndactyly, Hypoplastic right heart, Ventricular septal defect, Patent foramen ovale, Cleft palat... |
OMIM:616894 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
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Ventricular septal defect, Intestinal malrotation, Cleft palate, Atrial septal defect, Brachydactyly |
ORPHA:457193 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Ventricular septal defect, Abnormal thumb morphology, Metatarsus adductus, Abnormal right ventric... |
ORPHA:500095 |
16Q24.3 Microdeletion Syndrome |
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Ventricular septal defect, Optic nerve hypoplasia, Proximal placement of thumb, Dilated cardiomyo... |
ORPHA:261250 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Pallor |
OMIM:194380 |
Chromosome 15Q25 Deletion Syndrome |
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Ventricular septal defect, Dextrocardia, Long fingers, Cleft palate, Coronary artery fistula, Abn... |
OMIM:614294 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Edema, Long fingers, ... |
OMIM:617527 |
Dysosteosclerosis |
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Delayed eruption of teeth, Abnormal metaphysis morphology, Ventricular septal defect, Coarse meta... |
ORPHA:1782 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
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Hyperextensibility of the finger joints, Ventricular septal defect, Arachnodactyly, High palate, ... |
OMIM:309520 |
Momo Syndrome |
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Delayed eruption of teeth, Bilateral microphthalmos, Femoral bowing, Large hands, Short sternum, ... |
ORPHA:2563 |
Panhypophysitis |
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Pallor |
ORPHA:95513 |
Pontocerebellar Hypoplasia, Type 8 |
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Ventricular septal defect, Patent foramen ovale, Talipes equinovarus |
OMIM:614961 |
Oculopalatocerebral Syndrome |
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Microphthalmia |
OMIM:257910 |
Microphthalmia, Isolated, With Coloboma 9 |
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Microphthalmia |
OMIM:615145 |
Wolf-Hirschhorn Syndrome |
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Single transverse palmar crease, Atrial septal defect, Intrauterine growth retardation, Tethered ... |
OMIM:194190 |
16P13.11 Microdeletion Syndrome |
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Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Cleft palate, Talipes e... |
ORPHA:261236 |
46,Xx Sex Reversal 5 |
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Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
Sheehan Syndrome |
|
Dry skin, Pallor |
ORPHA:91355 |
Bardet-Biedl Syndrome 12 |
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Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:615989 |
Rothmund-Thomson Syndrome, Type 2 |
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Delayed eruption of teeth, Congenital hip dislocation, Short thumb, Small hand, Short foot, Anter... |
OMIM:268400 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
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Atrial septal defect, Postaxial hand polydactyly, Redundant neck skin, Ventricular septal defect |
ORPHA:2519 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Edema, Polyhydramnios, Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal d... |
OMIM:619534 |
Robinow Syndrome |
|
Syndactyly, Brachydactyly, Ventricular septal defect, Bifid distal phalanx of the thumb, Persiste... |
ORPHA:97360 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Natal tooth, Broad hallux, Ventricular septal defect, Hamartoma of tongu... |
OMIM:615948 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Ventricular septal defect, Tracheoesophageal fistula, Rectovaginal f... |
ORPHA:1780 |
Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Palpebral edema, Lymphedema, 2-3 toe syndactyly, Large hands, High pal... |
OMIM:606232 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
Simpson-Golabi-Behmel Syndrome |
|
Finger syndactyly, Atrial septal defect, Congenital hip dislocation, Toe syndactyly, Camptodactyl... |
ORPHA:373 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pallor, Peptic ulcer |
ORPHA:98849 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
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Ventricular septal defect, Erythema, High palate, Talipes equinovarus, Hand clenching, Intrauteri... |
OMIM:614653 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Edema, Hypoplasia of the iris, Macular hypoplasia... |
OMIM:609049 |
Heterotaxy, Visceral, 4, Autosomal |
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Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
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Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hallux valgus, Ventricular septal defect, Rocker bottom foot, Camptodactyly of finger, Cardiomega... |
OMIM:602782 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Histiocytoid cardiomyopathy, Microphthalmia, Dilated cardiomyopathy, Delayed eruption of primary ... |
OMIM:300952 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Microphthalmia, Hypoplasia of the retina, Pallor |
OMIM:253280 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Ventricular septal defect, Tarsal synostosis, Elbow flexion contracture, Cleft p... |
OMIM:178110 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venou... |
OMIM:608978 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Intestinal obstruction, Dry skin, Malabsorption |
OMIM:601675 |
Teebi Hypertelorism Syndrome 1 |
|
Natal tooth, Ventricular septal defect, Small hand, Broad palm, Atrial septal defect |
OMIM:145420 |
Renpenning Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Situs inversus totalis, Tetralogy of Fallot, Cle... |
OMIM:309500 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Tbck-Related Intellectual Disability Syndrome |
|
Broad toe, Ventricular septal defect, High, narrow palate, 2-3 toe syndactyly, Macroglossia, Broa... |
ORPHA:488632 |
Alg9-Cdg |
|
Villous atrophy, Ulnar deviation of the hand, Rhizomelia, Ventricular septal defect, Pericardial ... |
ORPHA:79328 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Broad hallux, 1-2 toe syndactyly, Ventricular septal defect, Tapered finger, Partial anomalous pu... |
OMIM:301044 |
Prolactinoma |
|
Pallor |
ORPHA:2965 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Overlapping toe, Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial sep... |
OMIM:617478 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Cleft palate |
ORPHA:261190 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
Cockayne Syndrome B |
|
Delayed eruption of primary teeth, Ivory epiphyses of the phalanges of the hand, Hypoplasia of th... |
OMIM:133540 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Tapered finger, Shortening of all dis... |
OMIM:616202 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Tapered finger, Small hand, Hip dysplasia, Atrial septal defect, Microphthalmia, Patent foramen o... |
OMIM:620005 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Cardiomegaly, Oligohydramnios, Dehydration, Macroglossia, High palate,... |
ORPHA:96191 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Alobar holoprosencephal... |
OMIM:301043 |
Townes-Brocks Syndrome |
|
Broad hallux phalanx, Atrial septal defect, Toe syndactyly, Rectoperineal fistula, Abnormal pulmo... |
ORPHA:857 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular s... |
OMIM:618775 |
Fraser Syndrome 2 |
|
Microphthalmia, Oligohydramnios, Cutaneous syndactyly |
OMIM:617666 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Intrauterine growth retardation, Ventricular septal defect, Cleft palate, Oligohydramnios |
OMIM:611812 |
Trichohepatoneurodevelopmental Syndrome |
|
Overlapping toe, Ventricular septal defect, Polyhydramnios, Hip dislocation, Short foot, Macroglo... |
OMIM:618268 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Ventricular septal defect, Single transverse palmar crease, Palpebral edema, Metatarsus adductus,... |
OMIM:614866 |
Tetrasomy 9P |
|
Pericarditis, Hypoplastic scapulae, Abnormal mitral valve morphology, Dextrocardia, Median cleft ... |
ORPHA:3310 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ... |
ORPHA:1686 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Ventricular septal defect, Rocker bottom foot,... |
ORPHA:163979 |
Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Cleft palate, Prominent interphalangeal joints, Macrog... |
OMIM:614609 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Broad hallux, Arachnodactyly, Cubitus valgus, High palate, Short finger, Microphthalmia, Bifid uvula |
OMIM:601552 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Pedal edema |
OMIM:126320 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Redundant neck skin, Single transverse palmar crease, Polyhydramnios,... |
OMIM:216340 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Smith-Lemli-Opitz Syndrome |
|
Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Holoprosencephaly, Atrial ... |
OMIM:270400 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Absent thumb, Hypoplasia of the ... |
ORPHA:96097 |
Keutel Syndrome |
|
Ventricular septal defect, Short distal phalanx of finger |
ORPHA:85202 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Optic nerve hypoplasia, Polyhydramnios, High palate, Pulmonic stenosis... |
OMIM:617506 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Tapered finge... |
OMIM:619539 |
Witteveen-Kolk Syndrome |
|
Branchial fistula, Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal placement of thumb, ... |
OMIM:613406 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Palpebral ... |
ORPHA:261337 |
Papillorenal Syndrome |
|
Microphthalmia, Edema |
OMIM:120330 |
Cornelia De Lange Syndrome |
|
Micromelia, Proximal placement of thumb, High palate, Atrial septal defect, Clinodactyly of the 5... |
ORPHA:199 |
Aicardi Syndrome |
|
Proximal placement of thumb, Spina bifida, Hiatus hernia, Cleft palate, Microphthalmia |
OMIM:304050 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Ventricular septal defect, Polyhydramnios, Avascular necrosis of the capital fem... |
OMIM:222470 |
Phace Association |
|
Microphthalmia, Ventricular septal defect, Optic nerve hypoplasia |
OMIM:606519 |
X-Linked Intellectual Disability, Nascimento Type |
|
Overlapping toe, Ventricular septal defect, Double outlet right ventricle, Clubbing of toes, Dry ... |
ORPHA:163956 |
Feingold Syndrome 1 |
|
Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Polyhydramnios, Short thumb, Shor... |
OMIM:164280 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Palmoplantar keratoderma, Ventricular septal defect, 2-3 toe syndactyly, Cleft palate |
OMIM:106260 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Double outlet left ventricle, Ventricular septal defect, Intestinal malrotation, Colon perforatio... |
OMIM:600001 |
Mullegama-Klein-Martinez Syndrome |
|
Cleft palate, Submucous cleft of soft and hard palate, Hypoplastic left heart, Polydactyly, Apica... |
OMIM:301022 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Polyhydramnios, Tapered finger, Short toe, Oligohydramnios, Short foot... |
ORPHA:464311 |
Cerebrocostomandibular Syndrome |
|
Short humerus, Atrial septal defect, Congenital hip dislocation, Calcaneal epiphyseal stippling, ... |
OMIM:117650 |
Von Hippel-Lindau Disease |
|
Myocarditis, Cardiomyopathy, Pallor, Macular edema |
ORPHA:892 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Ventricular septal defect |
OMIM:616901 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Unilateral cleft palate, Submucous cleft hard palate, Ventricular septal defect, Dysplastic pulmo... |
OMIM:619103 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect, Triphalangeal thumb |
OMIM:615550 |
Oculocerebrorenal Syndrome Of Lowe |
|
Delayed eruption of teeth, Malabsorption, Hip dislocation, Narrow palate, Genu valgum, Buphthalmo... |
ORPHA:534 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Inte... |
OMIM:618280 |
Chromosome 16P13.3 Duplication Syndrome |
|
Sandal gap, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Ventricular septal d... |
OMIM:613458 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
Noonan Syndrome 1 |
|
Ventricular septal defect, Lymphedema, High, narrow palate, Cleft palate, Hypertrophic cardiomyop... |
OMIM:163950 |
Hallermann-Streiff Syndrome |
|
Natal tooth, High, narrow palate, Small hand, Short foot, Glossoptosis, Clinodactyly of the 5th f... |
ORPHA:2108 |
Zellweger Syndrome |
|
Ventricular septal defect, Malabsorption, Pyloric stenosis, Epiphyseal stippling, High palate |
ORPHA:912 |
Beaulieu-Boycott-Innes Syndrome |
|
Velopharyngeal insufficiency, Ventricular septal defect |
OMIM:613680 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Abnormality of the hand, Velopharyngeal insufficiency, Submucous cleft... |
OMIM:192430 |
Spinal Arteriovenous Metameric Syndrome |
|
Abnormal spinal cord morphology, Spinal arteriovenous malformation |
ORPHA:53721 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Hip dysplasia, Ventricular septal defect, Right ventricular hypertrophy |
OMIM:613404 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Intestinal malrotation, Patent foramen o... |
ORPHA:2255 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Su... |
ORPHA:99125 |
Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Congenital hip dislocation, Long palm, Single transverse palmar crease, Ven... |
OMIM:244450 |
Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Prominent interphalangeal joints, High palate, Atrial septal def... |
OMIM:135900 |
Myopathy With Extrapyramidal Signs |
|
Ventricular septal defect |
OMIM:615673 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Ventricular septal defect, Metaphyseal chondrodysplasia,... |
OMIM:250410 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Bicuspid aortic valve, Pyloric stenosis, Ma... |
ORPHA:261494 |
Arboleda-Tham Syndrome |
|
Brachydactyly, Sandal gap, Deviation of the hallux, Short hallux, Ventricular septal defect, Secu... |
OMIM:616268 |
Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Hydrocephalus, Foot acroosteolysis, Osteolytic... |
OMIM:102500 |
Monosomy 9P |
|
Proximal placement of thumb, Abnormality of the tarsal bones, Postaxial hand polydactyly, Cleft p... |
ORPHA:261112 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
High palate, Ventricular septal defect, Cleft palate |
ORPHA:52055 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect, Proximal placement of thumb, Protruding tongue, Coxa valga, Slender lo... |
OMIM:212066 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... |
ORPHA:261183 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Anteriorly placed anus, ... |
ORPHA:26793 |
Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Pallor |
ORPHA:91347 |
Kinsship Syndrome |
|
Single transverse palmar crease, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydactyly, Me... |
OMIM:619297 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal spinal cord morphology, Flexion contracture of finger, Camptodactyly |
ORPHA:88628 |
Oculoauricular Syndrome |
|
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta |
OMIM:612109 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect, Rectourethral fistula, Cleft palate, High palate, Umbilical hernia, An... |
OMIM:300000 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia, Thickened cortex of long bones, Abnormality of the medullary cavity of the long b... |
OMIM:127000 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Ventricular septal defect, Dry skin, Optic disc hypoplasia |
OMIM:619306 |
Bardet-Biedl Syndrome 20 |
|
Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Atrial septal defect, Prea... |
OMIM:619471 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Aganglionic megacolon, Ventricular septal defect, Malabsorption |
ORPHA:452 |
Scimitar Syndrome |
|
Ventricular septal defect, Dextrocardia, Mitral atresia, Partial anomalous pulmonary venous retur... |
ORPHA:185 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Polyhydramnios, Mitral valve prolapse, High palate, Pulmonic stenosis,... |
OMIM:609942 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:616559 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Tapered finger, Long fingers, 2-3 toe syndactyly, Short palm, Clinodactyly of the 5th finger, Mic... |
OMIM:616734 |
Opitz Gbbb Syndrome |
|
Natal tooth, Ventricular septal defect, Tracheoesophageal fistula, Cleft palate, Abnormal heart m... |
ORPHA:2745 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, 2-3 toe cutaneous syndactyly, Cleft palate, Short foot, Clinodactyly o... |
OMIM:618454 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Syndromic Diarrhea |
|
Villous atrophy, Bicuspid aortic valve, Ventricular septal defect, Gastritis, Dry skin, Abnormal ... |
ORPHA:84064 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
2-5 finger syndactyly, Camptodactyly of finger, Optic nerve hypoplasia, 4-5 finger syndactyly, Bi... |
ORPHA:468631 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Ventricular septal defect, Short tibia, Fi... |
OMIM:258315 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Broad hallux, Bicuspid aortic valve, Ventricular septal defect, Intestinal malrotati... |
ORPHA:353281 |
Tetraamelia Syndrome 2 |
|
Glossoptosis, Ankyloglossia, Ventricular septal defect, Cleft palate |
OMIM:618021 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Double inlet left ventricle, Polydactyly, High palate, Atrial septal defect, Tetralog... |
OMIM:619869 |
Aicardi Syndrome |
|
Intestinal polyposis, Hiatus hernia, Malabsorption, Small hand, Cleft palate, Hip dysplasia, Micr... |
ORPHA:50 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect, Metaphyseal widening, Phthisis bulbi, Tibial bowing, Microphthalmia |
OMIM:259770 |
Truncus Arteriosus |
|
Pulmonary edema, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnorm... |
ORPHA:3384 |
Chops Syndrome |
|
Ventricular septal defect, High, narrow palate, Anomalous pulmonary venous return, Patent foramen... |
OMIM:616368 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Persistence of primary teeth, Bilateral micro... |
ORPHA:93325 |
Multiple Endocrine Neoplasia Type 2 |
|
Abnormal tongue morphology, Aganglionic megacolon, Pallor, Ganglioneuromatosis |
ORPHA:653 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Finger syndactyly, Ventricular septal defect, Optic nerve hypoplasia, Polyhydramnios, 2-3 toe syn... |
OMIM:620025 |
Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Intestinal malrotation, Partial ... |
OMIM:270100 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Redundant neck skin, Ventricular septal defect, Limited ... |
OMIM:218040 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Short femur, Polydactyly, Hypertrophic cardiomyopathy, Patent foramen ovale |
ORPHA:17 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia |
OMIM:610651 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Polyhydramnios, Postaxial hand polydactyly, Aplasia of the epiglottis, Con... |
OMIM:617088 |
Holoprosencephaly 2 |
|
Median cleft lip and palate, Alobar holoprosencephaly, Submucous cleft hard palate, Bilateral cle... |
OMIM:157170 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Abnormal heart morphology, Short 5th finger... |
ORPHA:1465 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia, High palate |
OMIM:110100 |
Choanal Atresia |
|
Polydactyly |
ORPHA:137914 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Atrial septal defect, Anomaly of lower limb diaphyses, Arachnodactyly, Bicus... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Atrial septal defect, Anomaly of lower limb diaphyses, Arachnodactyly, Bicus... |
ORPHA:363958 |
Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Atrial septal defect, Ventricular septal defect, Short toe, Advanced eruption ... |
ORPHA:1519 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Ventricular septal defect, Intestinal malrotation, Genu valgum, Duodenal atresia |
OMIM:617798 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
High palate, Ventricular septal defect, Bifid uvula |
OMIM:300472 |
Peters-Plus Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Proximal placement of thumb, Polyhydramn... |
OMIM:261540 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Macroglossia, High palate, Mesomelia, Patent foramen ovale, Hip sublux... |
OMIM:613457 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Ventricular septal defect, Polyhydramnios, Deep palmar crease, High palate, Pulmonic stenosis, At... |
OMIM:607721 |
Goldberg-Shprintzen Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Tapered finger, Increased femoral anteversion, ... |
OMIM:609460 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Hip dysplasia, Clinodactyly of the 5... |
ORPHA:457284 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Submucous cleft soft pal... |
ORPHA:1071 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Myelopathy, Abnormal spinal cord morphology |
ORPHA:139396 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c... |
OMIM:619503 |
Congenital Disorder Of Glycosylation, Type It |
|
Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Cleft palate, Bifid uvula |
OMIM:614921 |
Mgat2-Cdg |
|
Abnormal heart morphology, Ventricular septal defect, Hydrops fetalis, Brachydactyly |
ORPHA:79329 |
Viss Syndrome |
|
Chronic gastritis, Polyhydramnios, High, narrow palate, Right ventricular dilatation, High palate... |
OMIM:619472 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia, Bifid uvula |
OMIM:229400 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Submuco... |
ORPHA:3047 |
Acute Disseminated Encephalomyelitis |
|
Abnormal spinal cord morphology, Cerebral edema, Myelitis |
ORPHA:83597 |
Phace Syndrome |
|
Optic nerve hypoplasia, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol... |
ORPHA:42775 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... |
OMIM:617205 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... |
OMIM:619702 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Long fingers, Hydrocephalus, High pal... |
ORPHA:96121 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Ventricular septal defect, Phthisis bulbi, Broad ischia, Diaphyseal dyspla... |
OMIM:619727 |
Fanconi Anemia, Complementation Group N |
|
Short thumb, Ventricular septal defect |
OMIM:610832 |
Thauvin-Robinet-Faivre Syndrome |
|
Ventricular septal defect, Bowing of the legs, Pedal edema, Mitral valve prolapse, Macroglossia, ... |
OMIM:617107 |
Transketolase Deficiency |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology |
ORPHA:488618 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Atrial septal defect, Coronary artery fistula, Ventricular septal defect, Neonatal death |
OMIM:620024 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly |
ORPHA:163681 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Aortic v... |
OMIM:619895 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Aortic valve atresia, Double outlet right ventr... |
ORPHA:2299 |
Floating-Harbor Syndrome |
|
Hypospadias, Precocious puberty, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Neph... |
ORPHA:2044 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... |
OMIM:615474 |
Orofaciodigital Syndrome Type 14 |
|
Broad hallux, Deviation of the hallux, Ventricular septal defect, Hamartoma of tongue, Postaxial ... |
ORPHA:434179 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Esophageal atresia, Partial anomalous pulmonary venous r... |
ORPHA:95430 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Broad toe, Atrial septal defect, Tethered cord, Ventricular septal defect, Single transverse palm... |
OMIM:619522 |
Renal Agenesis |
|
Ventricular septal defect, Talipes equinovarus, Anal atresia, Oligohydramnios |
ORPHA:411709 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Jejunoileal ulceration, Rectal... |
ORPHA:436252 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610978 |
Floating-Harbor Syndrome |
|
Hypospadias, Cryptorchidism, Glandular hypospadias, Nephrocalcinosis, Hydronephrosis, Congenital ... |
OMIM:136140 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect |
ORPHA:369929 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Submucou... |
OMIM:300967 |
Williams Syndrome |
|
Bicuspid aortic valve, Redundant skin, Cardiomegaly, Periorbital edema, Rectal prolapse, Atrial s... |
ORPHA:904 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Cleft hard palate, Calcaneovalgus deformity, Bifid uvula, Long hallux, Lon... |
ORPHA:261537 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hallux valgus, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly, Tapered finger... |
ORPHA:480880 |
Leigh Syndrome |
|
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular septal defect |
ORPHA:506 |
Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect, Cleft palate, Short finger, Broad finger, Umbilical hernia, Broad phal... |
ORPHA:1934 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Split hand, Clubbing, Cleft palate, Tetralogy of Fallot |
OMIM:600460 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Polyhyd... |
OMIM:601803 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, High palate, Atrial septal defect, Clinodactyly of the 5th finger, Patent ... |
OMIM:607872 |
Diets-Jongmans Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hip dysplasia, Umbilical hernia, Duodenal atresia |
OMIM:618846 |
Zttk Syndrome |
|
Ventricular septal defect, Submucous cleft hard palate, Small hand, Short foot, High palate, Atri... |
OMIM:617140 |
Tetraamelia Syndrome 1 |
|
Hydrocephalus, Cleft palate, Hypoplastic pelvis, Microphthalmia, Anal atresia |
OMIM:273395 |
Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Anomalous pulmonary venous return, Conotruncal... |
ORPHA:3097 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Anal stenosis, Congenital hip dislocation, Ventricula... |
OMIM:606170 |
Legius Syndrome |
|
Mitral valve prolapse, Diaphyseal dysplasia, Polydactyly, Pulmonic stenosis, Clinodactyly of the ... |
ORPHA:137605 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:1455 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Cleft hard palate, Calcaneovalgus deformity, Bifid uvula, Long hallux, Lon... |
ORPHA:261552 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Broad hallux, Absence of Stensen duct, Delayed eruption of primary teeth,... |
OMIM:149730 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Small hand, Fibular hypoplasia, Abnormal heart morphology, Hypoplasia ... |
ORPHA:444077 |
Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Cleft hard palate, Calcaneovalgus deformity, Bifid uvula, Long toe, Syndac... |
ORPHA:2152 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia |
ORPHA:2612 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Aganglionic megacolon, Pyloric stenosis, Su... |
OMIM:235730 |
Culler-Jones Syndrome |
|
Cleft palate, Postaxial polydactyly |
OMIM:615849 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Small hand, Single transverse palmar crease, Ventricular septal hypert... |
OMIM:614947 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Abnormal spinal cord morphology, Cerebral edema, Skin ulcer |
ORPHA:68 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bicuspid aortic valve, Single transverse palmar crease, Ventricular septal defect, Palpebral edem... |
OMIM:619475 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Tapered finger, Mitral valve prolapse... |
ORPHA:444072 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Polyhydramnios, Abnormal stomach morphology, Fetal ascites, Tracheoeso... |
ORPHA:141127 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Abnormal tibia morphology, Hydrocephalus, Genu valgum, Abnormal heart ... |
ORPHA:363700 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Sandal gap, Optic nerve hypoplasia, Ventricular septal defect, Long fingers, Cutaneous syndactyly... |
OMIM:620330 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Wrist swelling, Hip dislocation, Genu valgum, Finger swelling, Microphth... |
OMIM:309000 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
Brain-Lung-Thyroid Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal cardiac septum morphology, Patent foram... |
ORPHA:209905 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Atrial septal defect, Toe syndactyly, Ventricular septal defect, Single transverse palmar crease,... |
ORPHA:459070 |
Faciocardiomelic Syndrome |
|
Slender long bone, Common atrium, Polydactyly, Hypoplastic pelvis |
OMIM:612731 |
Eisenmenger Syndrome |
|
Ventricular septal defect, Clubbing, Pedal edema, Aortopulmonary window, Abnormal heart morpholog... |
ORPHA:97214 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Ventricular septal defect, Metatarsus adductus, Osteopathia striata, Increased axial length of th... |
ORPHA:513456 |
Adrenomyeloneuropathy |
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Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:139399 |
Treacher Collins Syndrome 1 |
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Cleft soft palate, Bilateral microphthalmos, Cleft palate, Abnormal heart morphology, Abnormal pa... |
OMIM:154500 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Hallux valgus, Atrial septal defect, Ventricular septal defect, High, narrow palate, Abnormal lef... |
ORPHA:466791 |
Cockayne Syndrome |
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Microphthalmia, Premature skin wrinkling, Abnormal epiphysis morphology, Delayed eruption of prim... |
ORPHA:191 |
Hardikar Syndrome |
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Ventricular septal defect, Cleft soft palate, Intestinal malrotation, Celiac disease, Partial ano... |
OMIM:301068 |
Cardiospondylocarpofacial Syndrome |
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Atrial septal defect, Ventricular septal defect, Tarsal synostosis, Muscular ventricular septal d... |
OMIM:157800 |
Diamond-Blackfan Anemia 10 |
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Ventricular septal defect, Cleft palate |
OMIM:613309 |
Bosma Arhinia Microphthalmia Syndrome |
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Microphthalmia, High palate, Cleft palate |
OMIM:603457 |
Cockayne Syndrome Type 3 |
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Microphthalmia, Cardiomyopathy |
ORPHA:90324 |
Liver Disease, Severe Congenital |
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Chronic gastritis, Dermal translucency, Pulmonary edema, Ventricular septal defect, Left atrial e... |
OMIM:619991 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
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High, narrow palate, Hydrocephalus, Ventricular septal defect |
OMIM:619575 |
Kabuki Syndrome 1 |
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Atrial septal defect, Anal stenosis, Congenital hip dislocation, Ventricular septal defect, Intes... |
OMIM:147920 |
Penile Agenesis |
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Ventricular septal defect, Rectal fistula, Atrophy of the spinal cord, Tracheoesophageal fistula,... |
ORPHA:49 |
Double Outlet Left Ventricle |
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Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Laubry-Pezzi Syndrome |
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Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Septo-optic dysplasia, Optic nerve hypoplasia, Polydactyly, Holoprosencephaly, Abnormal digit mor... |
ORPHA:95494 |
Williams-Beuren Syndrome |
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Hallux valgus, Atrial septal defect, Colonic diverticula, Bicuspid aortic valve, Down-sloping sho... |
OMIM:194050 |
Cutis Laxa, Autosomal Dominant 1 |
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Ventricular septal defect, Redundant skin, Cutis laxa |
OMIM:123700 |
Orotic Aciduria |
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Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Primary Sjögren Syndrome |
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Abnormal spinal cord morphology, Xerostomia, Skin ulcer, Dry skin, Parotitis, Purpura |
ORPHA:289390 |
Johanson-Blizzard Syndrome |
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Colonic diverticula, Atrial septal defect, Ventricular septal defect, Single transverse palmar cr... |
OMIM:243800 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Atrophy of the spinal cord, Hydrocephalus, Dilated cardiomyopathy, Hydrops fetalis, Dehydration, ... |
ORPHA:79282 |
Keutel Syndrome |
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Ventricular septal defect, Short hallux, Premature fusion of phalangeal epiphyses, Short thumb, S... |
OMIM:245150 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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High palate, Ventricular septal defect |
OMIM:619418 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
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Rectoperineal fistula, Ventricular septal defect, Anteriorly placed anus, Hypoplastic left heart,... |
OMIM:618748 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Ventricular septal defect, Overlapping toe, Intestinal malrotation, Hiatus hernia, Clinodactyly o... |
OMIM:616682 |
Superficial Siderosis |
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Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:247245 |
Alzahrani-Kuwahara Syndrome |
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Ventricular septal defect, Coronary sinus enlargement, Atrial septal defect, Dry skin, Patent for... |
OMIM:619268 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
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Ventricular septal defect, Aortopulmonary window, Hypoplastic left heart, Transposition of the gr... |
ORPHA:99050 |
Ciliary Dyskinesia, Primary, 20 |
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Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... |
OMIM:615067 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
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Patent foramen ovale, Ventricular septal defect |
OMIM:610338 |
Sotos Syndrome |
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Hip contracture, Ventricular septal defect, Aganglionic megacolon, No permanent dentition, Bilate... |
ORPHA:821 |
Alagille Syndrome 1 |
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Hypoplasia of the ulna, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Sho... |
OMIM:118450 |
Goodpasture Syndrome |
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Pallor |
OMIM:233450 |
Digeorge Syndrome |
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Ventricular septal defect, High, narrow palate, Cleft palate, High palate, Umbilical hernia, Trun... |
OMIM:188400 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Hip dysplasia, Pulmo... |
ORPHA:438213 |
Norrie Disease |
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Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:649 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Tetralogy of Fallot, Ventricular septal defect, Ankyloglossia |
OMIM:619525 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hypoplasia of the iris, Microphthalmia, Hydrocephalus |
OMIM:175780 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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Cystathioninuria, Homocystinuria |
OMIM:277400 |