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Gene: Tctn2 MGI:1915228

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
tectonic family member 2
Synonyms:
Tect2,  4432405B04Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tctn2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to Tctn2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasi... ORPHA:2476
Gombo Syndrome
Abnormal heart morphology, Radial deviation of finger, Microphthalmia, Clinodactyly, Brachydactyly OMIM:233270
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias... OMIM:617927
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta ORPHA:64754
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Biemond Syndrome Type 2
Microphthalmia, Hydrocephalus, Preaxial polydactyly ORPHA:141333
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia, Bilateral cleft lip and palate OMIM:600776
Adams-Oliver Syndrome 4
Ventricular septal defect, Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle... OMIM:615297
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Cleft palate, Abnormal heart morphology, Upper limb phocomelia, Abnormal cardiac sept... ORPHA:294975
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,... ORPHA:957
Mmep Syndrome
Median cleft lip, Ventricular septal defect, Cryptorchidism, Orofacial cleft, Split foot, Triphal... ORPHA:3434
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Meckel Syndrome, Type 5
Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A... OMIM:611561
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni... OMIM:603194
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Ventricular septal defect, Hydrocephalus, Meningocele, A... OMIM:611134
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Hydrolethalus Syndrome 2
Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Cleft palate, Postaxial foot polydactyly,... OMIM:614120
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small hypothenar eminence, Spina bifida, Mitral valve prolapse, Dermatoglyphic ridges abnormal, S... OMIM:211960
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Polydactyly, Preaxial I
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... OMIM:174400
Pierre Robin Sequence With Facial And Digital Anomalies
Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca... OMIM:311895
Acalvaria
Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Cleft palate, Holoprosencephaly ORPHA:945
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Pericardial effusion, Clef... OMIM:613885
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Anencephaly 2
Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate OMIM:619452
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Microphthalmia OMIM:611638
Frontonasal Dysplasia 1
Median cleft lip, Postaxial hand polydactyly, Anterior basal encephalocele, Widely-spaced maxilla... OMIM:136760
Hartsfield Syndrome
Encephalocele, Non-midline cleft lip, Split hand, Cleft palate, Lobar holoprosencephaly, Aplasia/... ORPHA:2117
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Syndactyly-Polydactyly-Earlobe Syndrome
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... OMIM:186350
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Hypoplastic right heart, Postaxial polydactyly, Ventricular septal defect, Preax... OMIM:618142
Otopalatodigital Syndrome Type 2
Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Anodontia, Encephalocele, Synostosis... ORPHA:90652
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Hydrocephalus... ORPHA:380
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Cubitus valgus, Humeroradial synost... OMIM:612961
Feingold Syndrome 2
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl... OMIM:614326
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Cleft soft palate,... ORPHA:2756
Humero-Radial Synostosis
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Meningocele, Abnormality o... ORPHA:3265
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Cleft palate, Hydranencephaly, Truncus arteriosus, Short distal phalan... OMIM:601355
Feingold Syndrome Type 2
Toe syndactyly, Ventricular septal defect, Jejunal atresia, Short thumb, Short middle phalanx of ... ORPHA:391646
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Atrial se... OMIM:607323
Diprosopus
Non-midline cleft lip, Abnormal cardiac septum morphology, Anencephaly, Cleft palate ORPHA:1681
2Q24 Microdeletion Syndrome
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... ORPHA:1617
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Schisis Association
Encephalocele, Spina bifida, Micromelia, Anencephaly, Tracheoesophageal fistula, Cleft palate, Un... ORPHA:63862
X-Linked Intellectual Disability, Siderius Type
Cleft upper lip, Cryptorchidism, Preaxial hand polydactyly, Orofacial cleft, Large hands, Decreas... ORPHA:85287
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Radi... ORPHA:1388
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Encephalocele,... OMIM:616300
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Occipital encephalocele, Hydrocephalus, Orofacial cleft ORPHA:324416
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Camptodactyly of finger, Intestinal malrotation, Meningocele, Duodenal stenosis, Ab... ORPHA:1759
Joubert Syndrome 18
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Ventricular septal defect, Pos... OMIM:614815
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Oculocerebrocutaneous Syndrome
Anophthalmia, Congenital hip dislocation, Cryptorchidism, Orbital encephalocele, Cleft palate, Mi... OMIM:164180
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Microphthalmia, Rocker bottom foot, Cleft palate OMIM:616570
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Micromelia, Postaxial polydactyl... OMIM:617866
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Ventricular septal defect, Narrow mouth, Atrial septal defect,... ORPHA:3469
Arthrogryposis, Distal, Type 1C
Pursed lips, Hip contracture, Rocker bottom foot, Camptodactyly of finger, Shoulder flexion contr... OMIM:619110
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Umbilical hernia, Ventricular septal defect, Cryptorchidism ORPHA:1918
Isolated Dandy-Walker Malformation
Encephalocele, Tetralogy of Fallot, Cleft palate ORPHA:217
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
Ivic Syndrome
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... OMIM:147750
Microphthalmia, Syndromic 12
Anophthalmia, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Hypoplastic left... OMIM:615524
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Mic... ORPHA:1908
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip, Cleft upper ... OMIM:601357
Hydrolethalus
Anophthalmia, Micromelia, Cryptorchidism, Hydrocephalus, Postaxial hand polydactyly, Anencephaly,... ORPHA:2189
Anophthalmia Plus Syndrome
Anophthalmia, Spina bifida, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, ... ORPHA:1104
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micromelia, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Hydrocephalus, A... OMIM:616546
Biemond Syndrome Ii
Preaxial hand polydactyly, Hydrocephalus OMIM:210350
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Cleft uppe... OMIM:613091
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Ventricular septal defect, Hydrocephalus, Polydactyly, Microphthalmia, Smooth philtrum OMIM:602501
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Hydrocephalus,... OMIM:175700
Endocrine-Cerebroosteodysplasia
Single transverse palmar crease, Micromelia, Preaxial polydactyly, Tibial bowing, Holoprosencepha... OMIM:612651
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Postaxial hand polydactyly, Cleft palate, Postaxial foot ... OMIM:607361
Oculofaciocardiodental Syndrome
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... ORPHA:2712
Facial Clefting, Oblique, 1
Microphthalmia, Deep palmar crease, Cleft palate, Cleft upper lip OMIM:600251
Mohr Syndrome
Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndactyly, Accessory ... OMIM:252100
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida, Cleft palate, Abnormal shoulder morphology, Ectopic anus... ORPHA:2345
Microphthalmia, Syndromic 8
Cleft upper lip, Cryptorchidism, Cleft palate, Orofacial cleft, Widely-spaced maxillary central i... OMIM:601349
Microphthalmia, Isolated 4
Microphthalmia, Absent testis, Postaxial polydactyly OMIM:613094
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly OMIM:615397
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... ORPHA:3104
Microphthalmia With Limb Anomalies
Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibia... OMIM:206920
Curry-Jones Syndrome
Anal stenosis, Occipital meningocele, Intestinal pseudo-obstruction, Duplication of thumb phalanx... OMIM:601707
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Bilateral single transverse palmar creases, Proximal placement of thumb, S... ORPHA:1120
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Ventricular septal defect, Exaggerated cupid's bow, Narrow mouth, Deep philtrum, ... ORPHA:261120
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... ORPHA:93320
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Median cleft palate ORPHA:2432
Craniotelencephalic Dysplasia
Microphthalmia, Hydrocephalus, Frontal encephalocele, Septo-optic dysplasia ORPHA:1528
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... OMIM:183600
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Bilateral cryptorchidism, Central Y-shape... ORPHA:2754
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Hydrocephalus, Postaxial hand polydactyly, Abnormal cardiac septum mor... ORPHA:83473
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Hand polydactyly, Everted lower lip vermilion, Pulmonic stenosis, Atri... OMIM:249670
Acromelic Frontonasal Dysostosis
Encephalocele, Syndactyly, Optic nerve hypoplasia, Cleft upper lip, Cryptorchidism, Preaxial poly... OMIM:603671
Meckel Syndrome, Type 10
Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd... OMIM:614175
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Blepharocheilodontic Syndrome 1
Conical tooth, Cleft upper lip, Cutaneous syndactyly, Neural tube defect, Hypodontia, Clinodactyl... OMIM:119580
Nanophthalmos 2
Microphthalmia OMIM:609549
Triploidy
Finger syndactyly, Intestinal malrotation, Cryptorchidism, Hydrocephalus, Meningocele, Non-midlin... ORPHA:3376
Czeizel-Losonci Syndrome
Hitchhiker thumb, Dextrocardia, Spina bifida, Single transverse palmar crease, Myelomeningocele, ... ORPHA:2437
Rhizomelic Syndrome, Urbach Type
Brachydactyly, Rhizomelia, Abnormality of the humerus, Preaxial hand polydactyly, Abnormality of ... ORPHA:3098
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger, Brachydac... ORPHA:1937
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Preaxial hand polydactyly, Thin upper lip vermilion, Interphalangeal joint contracture of finger,... OMIM:606242
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia OMIM:218670
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Broad proximal phalanges of the hand, Optic nerve hypoplasia, Cleft upper lip, High, narrow palat... OMIM:607597
Pelvis-Shoulder Dysplasia
Syndactyly, Camptodactyly of finger, Spina bifida, Aplasia/Hypoplasia of the fibula, Mesomelic/rh... ORPHA:2839
Stromme Syndrome
Jejunal atresia, Optic nerve hypoplasia, Intestinal malrotation, Hydrocephalus, Preaxial polydact... OMIM:243605
3P25.3 Microdeletion Syndrome
Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fin... ORPHA:435638
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Orofaciodigital Syndrome Vi
Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper lip, Hamartoma... OMIM:277170
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Cleft palate, Mesomelic le... OMIM:249710
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Anteriorly plac... OMIM:619148
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate, Atrial septal defect,... ORPHA:261272
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Aase-Smith Syndrome I
Ventricular septal defect, Hydrocephalus, Cleft palate, Talipes equinovarus, Open mouth, Slender ... OMIM:147800
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
Holzgreve Syndrome
Hand polydactyly, Hypoplastic left heart, Cleft palate, Cleft upper lip OMIM:236110
Congenital Vertical Talus
Myelomeningocele, Rocker bottom foot, Equinus calcaneus ORPHA:178382
Isolated Hemihyperplasia
Cryptorchidism, Myelomeningocele, Abnormality of the dentition ORPHA:2128
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Abnormalit... ORPHA:2378
Sonoda Syndrome
High axial triradius, Ventricular septal defect, Narrow mouth OMIM:270460
Pierpont Syndrome
Thin upper lip vermilion, Cryptorchidism, Short toe, Broad philtrum, Deep palmar crease, Thin ver... ORPHA:487825
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Sandal gap, High, narrow palate, Dilated cardiomyopathy, Clinodactyly ... ORPHA:2515
Pierpont Syndrome
Cryptorchidism, Short toe, Broad palm, Short foot, Broad philtrum, Prominent median palatal raphe... OMIM:602342
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Postaxial polydactyl... ORPHA:404440
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Diaphanospondylodysostosis
Narrow pelvis bone, Myelomeningocele, Cleft palate ORPHA:66637
Carpenter Syndrome
Finger syndactyly, Syndactyly, Toe syndactyly, Cryptorchidism, Postaxial hand polydactyly, Preaxi... ORPHA:65759
Joubert Syndrome 14
Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Postaxial polydactyly, Hydr... OMIM:614424
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, High palate, Atrial septal defect, Clinodactyl... OMIM:201000
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Oculoauriculofrontonasal Syndrome
Encephalocele, Ventricular septal defect, Cleft lip, Cleft palate, Narrow mouth, Broad philtrum ORPHA:398156
Parietal Foramina 1
Encephalocele, Cleft palate, Cleft upper lip OMIM:168500
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Cleft upper lip, Complete atrioventricula... OMIM:264480
Enlarged Parietal Foramina
Occipital encephalocele, Cleft lip, Myelomeningocele, Cleft palate, Short clavicles, Broad thumb ORPHA:60015
Fibular Hemimelia
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th... ORPHA:93323
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Brachydactyly, Toe syndactyly, Scapular winging, Camptodactyly of finger, Spina bi... ORPHA:1327
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ... DECIPHER:46
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High palate, Clinodactyly of ... ORPHA:1106
Bardet-Biedl Syndrome 7
Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Clinodactyly OMIM:615984
Trisomy 4P
Smooth philtrum, Camptodactyly of finger, Abnormality of the dentition, Carious teeth, Preaxial h... ORPHA:1738
Moebius Syndrome
Decreased testicular size, Syndactyly, Brachydactyly, Abnormality of the dentition, Clinodactyly,... OMIM:157900
Chromosome 1Q41-Q42 Deletion Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Ventricular septal defect, Clef... OMIM:612530
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, ... OMIM:614262
Orofaciodigital Syndrome Viii
Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia OMIM:300484
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Rhizomelia, Ventricular septal defect, Proximal placement of thumb, Dow... ORPHA:93267
Lambotte Syndrome
Preaxial foot polydactyly, Ventricular septal defect, Narrow mouth, Semilobar holoprosencephaly OMIM:245552
Nemaline Myopathy 9
High palate, Ventricular septal defect, Cleft palate OMIM:615731
Cranioacrofacial Syndrome
Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Atrial septal defect, Thin upper lip vermilion, Overlapping fingers, Overlapping toe, Ventricular... OMIM:618494
Jawad Syndrome
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... OMIM:251255
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Hydrocephalus, Abnormality of t... ORPHA:163966
Cousin Syndrome
Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio... OMIM:260660
Pentalogy Of Cantrell
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Hydrocephalus, Split h... ORPHA:1335
Brachydactyly-Preaxial Hallux Varus Syndrome
Short metacarpal, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Broad thumb, Abn... ORPHA:1278
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, High palate, Narrow mouth ORPHA:2528
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Bifid u... OMIM:200990
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of the dentition, Upper limb undergrowth, Gingival overgro... OMIM:169400
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cleft palate, Cleft upper lip OMIM:120433
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Ventricular septal defect, ... OMIM:600987
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... OMIM:169550
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Sirenomelia
Spina bifida, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia of the radius, Anal atresia ORPHA:3169
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Non-midline cleft lip, Meningocele, Hip dislocation, Bilateral cleft lip and palate, Tooth agenesis ORPHA:2003
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Postaxial polydactyly, Hamartoma of tongue, Esophageal diverticulum, Complete atriov... OMIM:617925
Braddock-Carey Syndrome 2
Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Clinodactyly OMIM:619981
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... OMIM:616898
Intellectual Developmental Disorder, Autosomal Recessive 79
Thin upper lip vermilion, Ventricular septal defect, Short hallux, Long fingers, Clinodactyly of ... OMIM:620393
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid stern... ORPHA:63260
Pallister-Hall-Like Syndrome
Occipital encephalocele, Toe syndactyly, Median cleft lip, Micromelia, Hydrocephalus, Postaxial h... OMIM:241800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus OMIM:614830
Vater/Vacterl Association
Occipital encephalocele, Syndactyly, Ventricular septal defect, Spina bifida, Absent radius, Shor... OMIM:192350
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Narrow femoral neck, Congenital hip dislocation, Long proximal phalanx of finger, Delayed phalang... OMIM:603546
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bifid uvula, Cleft palate OMIM:258320
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Non-midline cleft lip, Orofacial clef... ORPHA:2549
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Postaxial polydactyly, Preaxial polydactyly, Femoral bowin... OMIM:615503
Lissencephaly 8
Microphthalmia, Occipital encephalocele, Talipes equinovarus OMIM:617255
Orofaciodigital Syndrome Xi
Cleft palate, Gastroesophageal reflux, Postaxial polydactyly OMIM:612913
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Cleft palate... OMIM:258860
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Hydrocephalus, Postaxial hand poly... ORPHA:85284
Joubert Syndrome 16
Encephalocele, Polydactyly OMIM:614465
15Q24 Microdeletion Syndrome
Proximal placement of thumb, Abnormality of the dentition, Abnormal thumb morphology, Abnormal to... ORPHA:94065
14Q24.1Q24.3 Microdeletion Syndrome
Thin upper lip vermilion, Limited elbow extension and supination, Ventricular septal defect, Inte... ORPHA:401935
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Single transverse palmar crease, Deep philtrum, Widely spaced teeth, C... OMIM:619717
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia, Atrial septal defect, Microphthalmia, Broad thumb, Smooth ... OMIM:614526
Temtamy Syndrome
Short toe, Thick lower lip vermilion, Genu varum, Clinodactyly of the 5th finger, Microphthalmia,... ORPHA:1777
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus, Macroglossia, Epiphyseal stippling, Aplasia/Hypoplasia affecting... ORPHA:1914
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of meta... OMIM:300863
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb ORPHA:2091
Orofaciodigital Syndrome Xvii
Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplicatio... OMIM:617926
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Clinodactyly, Microphthalmia, Brachydactyly, Syndactyly OMIM:610023
Jackson-Weiss Syndrome
Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti... ORPHA:1540
Bardet-Biedl Syndrome 4
Syndactyly, Abnormality of the dentition, Cryptorchidism, Polydactyly, Brachydactyly OMIM:615982
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Natal tooth, Broad hallux, Ventricular septal defect, Hamartoma of tongu... OMIM:615948
Frontorhiny
Encephalocele, Camptodactyly of finger, Cleft palate, Finger clinodactyly, Basal encephalocele, C... ORPHA:391474
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Protruding tongue, Cryptorchidism, Hydrocephalus, Alveolar ridge overg... OMIM:612938
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Preaxial... ORPHA:1553
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Microphthalmia, Hydrocephalus, Cardiomyopathy OMIM:613155
Monosomy 18P
Carious teeth, Cleft palate, Downturned corners of mouth, Short philtrum, Holoprosencephaly, Hypo... ORPHA:1598
Caudal Duplication
Cryptorchidism, Myelomeningocele, Intestinal duplication, Spina bifida ORPHA:1756
Diabetic Embryopathy
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Tetralogy of Fallot, Cleft palate, Spin... ORPHA:1926
Lambert Syndrome
Wide mouth, Branchial anomaly, Ventricular septal defect ORPHA:1296
Cat Eye Syndrome
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis... OMIM:115470
Bardet-Biedl Syndrome 19
Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyly, Partial atrioventri... OMIM:615996
Kapur-Toriello Syndrome
Overlapping fingers, Ventricular septal defect, Camptodactyly of finger, Intestinal malrotation, ... OMIM:244300
Trisomy 8Q
Camptodactyly of finger, Cryptorchidism, Myelomeningocele, Non-midline cleft lip, Orofacial cleft... ORPHA:1752
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal t... ORPHA:1354
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Ventricular septal defect, Epiphyseal stippling OMIM:614876
Sandestig-Stefanova Syndrome
Rocker bottom foot, Muscular ventricular septal defect, Orofacial cleft, Perimembranous ventricul... OMIM:618804
Adams-Oliver Syndrome
Encephalocele, Finger syndactyly, Brachydactyly, Gastrointestinal hemorrhage, Abnormal pulmonary ... ORPHA:974
Verheij Syndrome
Branchial cyst, Thin upper lip vermilion, Truncus arteriosus, Optic nerve hypoplasia, Ventricular... OMIM:615583
Fountain Syndrome
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Spina bifida, Thick l... ORPHA:3219
Trisomy 13
Anophthalmia, Ventricular septal defect, Median cleft lip, Abnormality of the dentition, High, na... ORPHA:3378
Suleiman-El-Hattab Syndrome
Thin upper lip vermilion, Ventricular septal defect, Single transverse palmar crease, Cryptorchid... OMIM:618950
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Ventricular septal defect, Esophageal atresia, Hydrocephalus, Cryptorchidism, Trach... ORPHA:77298
Acromelic Frontonasal Dysplasia
Encephalocele, Median cleft lip, Cryptorchidism, Meningocele, Patellar hypoplasia, Wide mouth, Ta... ORPHA:1827
Ritscher-Schinzel Syndrome 1
Syndactyly, Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Cleft palate... OMIM:220210
Orofaciodigital Syndrome Type 2
Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tibia, Atrioventr... ORPHA:2751
Trisomy 1Q
Toe syndactyly, Anophthalmia, Arachnodactyly, Camptodactyly of finger, Ventricular septal defect,... ORPHA:261344
Carpenter Syndrome 2
Single transverse palmar crease, Bilateral cryptorchidism, High, narrow palate, Preaxial polydact... OMIM:614976
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Abnormality of the palmar crea... OMIM:618652
Cerebrocostomandibular Syndrome
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Cleft palate, Glossoptosi... ORPHA:1393
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, L... ORPHA:2211
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Umbilical hernia, Joint con... OMIM:618914
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
8P23.1 Duplication Syndrome
Toe syndactyly, Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Long philtr... ORPHA:251076
Char Syndrome
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Ventricular septal defect... ORPHA:46627
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the distal pha... OMIM:113000
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Ventricular septal defect, Abnormality of the hand, Cryptorchidism, Bilateral microph... ORPHA:369891
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Fanconi Anemia, Complementation Group R
Radial dysplasia, Absent thumb, Hydrocephalus, Agenesis of permanent teeth, Microphthalmia, Anal ... OMIM:617244
Filippi Syndrome
Ventricular septal defect, Single transverse palmar crease, 2-4 toe syndactyly, Cryptorchidism, C... OMIM:272440
Femoral-Facial Syndrome
Thin upper lip vermilion, Short femur, Cryptorchidism, Abnormal fibula morphology, Coxa vara, Oro... ORPHA:1988
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Sandal gap, Long philtrum, Atrial septal defect, Microphthalmia, Tetralo... OMIM:300887
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Ventricular septal defect, Abnormality of the dentition, Deep philtru... ORPHA:251038
Mosaic Trisomy 9
Ventricular septal defect, Rocker bottom foot, Spina bifida, Micromelia, Camptodactyly of finger,... ORPHA:99776
Focal Dermal Hypoplasia
Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Gastroesophageal reflux, Finger syndacty... ORPHA:2092
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Abnormality of the philtrum, Bilateral single transverse palmar crease... ORPHA:1770
Joubert Syndrome 17
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Ventricular septal defect, Rocker bottom foot, Wide mouth, Delayed erupt... OMIM:618506
2Q31.1 Microdeletion Syndrome
Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Short palm, Atrial septal ... ORPHA:251014
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Sandal gap, Ventricular septal defect, Postaxial poly... OMIM:174300
Phaver Syndrome
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Myelomenin... ORPHA:2876
Trisomy 18
Ventricular septal defect, Camptodactyly of finger, Spina bifida, Esophageal atresia, Postaxial h... ORPHA:3380
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Coxa valga, Abnormality of the elbow, Cleft palate, Flat acetabular roof, Hemiatrophy of upper li... ORPHA:163649
Limb Body Wall Complex
Cutaneous finger syndactyly, Atrial septal defect, Aplasia of the proximal phalanges of the hand,... ORPHA:2369
Mosaic Trisomy 1
Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Absent distal interphalang... ORPHA:1692
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t... ORPHA:90650
Rhombencephalosynapsis
Finger syndactyly, Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Hydrocephalu... ORPHA:59315
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Aortic valve prolapse, Ventricular septal defect, Pierre-Robin sequ... OMIM:619980
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Alg3-Cdg
Abnormality of the gastrointestinal tract, Metaphyseal chondrodysplasia, Abnormal limb bone morph... ORPHA:79321
3C Syndrome
High, narrow palate, Orofacial cleft, Abnormal tricuspid valve morphology, Gastroesophageal reflu... ORPHA:7
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, Cryptorchidism, Hydrocephalus, Short foot, Hand polydactyly... ORPHA:250989
Basal Cell Nevus Syndrome 1
Odontogenic keratocysts of the jaw, Down-sloping shoulders, Spina bifida, Cleft upper lip, Palmar... OMIM:109400
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Intestinal malrotation, Cryptorchidism, Hydrocephalus, Postaxial hand polydactyly,... ORPHA:2166
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, High, narrow palate, Ab... ORPHA:2879
Vacterl/Vater Association
Occipital encephalocele, Finger syndactyly, Preaxial hand polydactyly, Non-midline cleft lip, Cry... ORPHA:887
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Short thumb, Cleft palate, M... OMIM:612561
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Short lingual frenulum, Micromelia, P... OMIM:614091
8Q12 Microduplication Syndrome
Ventricular septal defect, Short foot, Everted lower lip vermilion, Gastroesophageal reflux, Narr... ORPHA:228399
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Accessory oral frenulum, Conical tooth, Complete atrioventricular canal de... OMIM:619142
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Thick lower lip vermilion, Widely-spaced maxillary central incisors, S... OMIM:608227
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Abnormal finger morphology, Gastroesophageal reflux, Atrial septal defect, Phocomel... ORPHA:2538
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Cleft upper lip, Hypoplasia of the radius, Hand oligod... OMIM:602418
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, D... OMIM:617201
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... OMIM:210710
Nanophthalmos
Microphthalmia ORPHA:35612
Gracile Bone Dysplasia
Hydrocephalus, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Ankyloglossia, Bra... OMIM:602361
Marden-Walker Syndrome
Arachnodactyly, Dextrocardia, High, narrow palate, Narrow mouth, Pyloric stenosis, Cryptorchidism... OMIM:248700
Bartsocas-Papas Syndrome 2
2-5 finger cutaneous syndactyly, Accessory oral frenulum, Small hand, Bilateral cleft lip and pal... OMIM:619339
3Mc Syndrome 3
Cleft upper lip, Cryptorchidism, Preaxial polydactyly, Cleft palate, Radioulnar synostosis, Clino... OMIM:248340
Teebi-Shaltout Syndrome
Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Rocker bottom foot, Single tr... OMIM:272950
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect, Tongue fasciculations OMIM:253300
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Tooth agenesis, Microphthalmia, High palate, Cleft palate ORPHA:1135
Pallister-Hall Syndrome
Anteriorly placed anus, Holoprosencephaly, Distal shortening of limbs, Syndactyly, Mesoaxial foot... OMIM:146510
Microcephaly-Micromelia Syndrome
Micromelia, Absent thumb, Aqueductal stenosis, Absent radius, Short tibia, Humeroradial synostosi... OMIM:251230
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short metatars... OMIM:617102
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... OMIM:101200
Cohen Syndrome
High, narrow palate, Short philtrum, Clinodactyly of the 5th finger, Finger syndactyly, Arachnoda... ORPHA:193
Cofs Syndrome
Microphthalmia, Everted lower lip vermilion, Camptodactyly of finger ORPHA:1466
Nail-Patella Syndrome
Biceps aplasia, Glenoid fossa hypoplasia, Spina bifida, Cleft upper lip, Triceps aplasia, Patella... OMIM:161200
Li-Campeau Syndrome
Ventricular septal defect, Single transverse palmar crease, Cryptorchidism, Gastrointestinal dysm... OMIM:619189
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Dental crowding, Upper limb asymmetry, High palate, Polydactyly, Clinodactyly of the 5th finger ORPHA:231140
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Atrial septal defect, Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect,... ORPHA:329224
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Nephrotic Syndrome, Type 11
Ventricular septal defect, Arachnodactyly, Cleft lip, Partial duplication of thumb phalanx, Dilat... OMIM:616730
Ritscher-Schinzel Syndrome 2
Syndactyly, Atrial septal defect, Broad hallux, Overlapping toe, Camptodactyly of finger, Ventric... OMIM:300963
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella... OMIM:609945
Stevenson-Carey Syndrome
Pierre-Robin sequence, Downturned corners of mouth, Hip dysplasia, Gastroesophageal reflux, Narro... OMIM:611961
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect, Hydrocephalus, Postaxial hand polydactyly, Cone-shaped epiphyses of th... OMIM:615630
Holt-Oram Syndrome
Finger syndactyly, Ventricular septal defect, Down-sloping shoulders, Absent thumb, Abnormality o... ORPHA:392
Developmental Delay With Variable Neurologic And Brain Abnormalities
Down-sloping shoulders, Cubitus valgus, Widely spaced teeth, Camptodactyly, Microdontia, Micropht... OMIM:619694
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Chromosome 3Pter-P25 Deletion Syndrome
Thin upper lip vermilion, Overlapping toe, Postaxial polydactyly, Tapered finger, Cryptorchidism,... OMIM:613792
Congenital Toxoplasmosis
Microphthalmia, Hydrocephalus, Cardiomegaly ORPHA:858
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Dysphagia OMIM:207950
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Abnormality of the dentition, Conical tooth, Cryptorchidism, Microphthalmia, Broad... ORPHA:228390
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Thin upper lip vermilion, Overlapping toe, Ventricular septal defect, Parachute mitral ... OMIM:618316
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... OMIM:605282
Solitary Median Maxillary Central Incisor
Anophthalmia, Cleft upper lip, Prominent median palatal raphe, Holoprosencephaly, Torus palatinus... OMIM:147250
Warburg Micro Syndrome 1
Overlapping toe, Cryptorchidism, Thin vermilion border, Narrow mouth, Microphthalmia OMIM:600118
Steinfeld Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal heart... OMIM:184705
Pai Syndrome
Encephalocele, Median cleft lip, Cleft palate, Abnormal oral frenulum morphology, Bifid uvula ORPHA:1993
16P13.11 Microduplication Syndrome
Ventricular septal defect, Arachnodactyly, Hand polydactyly, Transposition of the great arteries,... ORPHA:261243
Joubert Syndrome 22
Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, 2-3 toe syndactyly OMIM:615665
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ... OMIM:165590
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Cryptorchidism, Cleft palate, Tooth agenesis, Abnormal hip bone morpho... ORPHA:1166
Galloway-Mowat Syndrome 7
Hallux valgus, Arachnodactyly, Ventricular septal defect, Single transverse palmar crease, Cleft ... OMIM:618348
Meckel Syndrome 14
Occipital encephalocele, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial h... OMIM:619879
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Duode... ORPHA:2547
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Thick lower lip vermil... OMIM:220500
Congenital Varicella Syndrome
Microphthalmia, Micromelia ORPHA:291
Roifman Syndrome
Noncompaction cardiomyopathy, Short metacarpal, Thin upper lip vermilion, Ventricular septal defe... OMIM:616651
Chromosome 6Pter-P24 Deletion Syndrome
Broad toe, Atrial septal defect, Tented upper lip vermilion, Ventricular septal defect, Rocker bo... OMIM:612582
Iniencephaly
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Hydrocephalus, Myelomeningocele, Ane... ORPHA:63259
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Thin upper lip vermilion, Intestinal malrotation, Single transverse palmar crease, Ve... OMIM:614701
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Abnormality of the den... OMIM:179613
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Sandal gap, Tapered finger, Thin vermilion border, Long philtrum, Micropht... ORPHA:1438
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Meningocele, Anomalous pulmonary veno... ORPHA:2311
Multiple Epiphyseal Dysplasia Type 4
Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High palate, Arthral... ORPHA:93307
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Syndactyly, Hamartoma of tongue, Cleft upper lip, Myelomeningocele... OMIM:311200
Desbuquois Syndrome
Ventricular septal defect, Camptodactyly of finger, Coxa valga, Elbow dislocation, Small hand, Co... ORPHA:1425
Microphthalmia, Syndromic 11
Microphthalmia, Cleft palate, Cleft upper lip OMIM:614402
Adams-Oliver Syndrome 1
Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip,... OMIM:100300
Meckel Syndrome
Encephalocele, Bowing of the long bones, Anophthalmia, Aplasia/Hypoplasia of the tongue, Situs in... ORPHA:564
Frontofacionasal Dysplasia
Encephalocele, Microphthalmia, Non-midline cleft lip, Cleft palate ORPHA:1791
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna... OMIM:142900
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Aplasia of the distal phalanx of the 5th finger, Oligodontia, High pa... OMIM:608670
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Hydrocephalus, Metaphyseal... OMIM:224400
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Cryptorchidism, Postaxial foot poly... ORPHA:139471
Cat-Eye Syndrome
Microphthalmia, Hip dysplasia, Anal atresia ORPHA:195
Chromosome 17P13.1 Deletion Syndrome
Hallux valgus, Arachnodactyly, Broad hallux, Proximal placement of thumb, Spina bifida, Tapered f... OMIM:613776
Genitopalatocardiac Syndrome
Ventricular septal defect, Cleft upper lip, Cleft palate, Transposition of the great arteries, Do... OMIM:231060
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental pulp morphology, Ag... ORPHA:2791
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Cleft palate, High palate OMIM:616038
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus, Cryptorchidism OMIM:601794
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Atrial septal defec... OMIM:274000
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia OMIM:614082
Nanophthalmos 4
Microphthalmia OMIM:615972
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Talipes equinovarus OMIM:616171
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Cryptorchidism, Cleft palate, Short 5th finger, Polydactyly, Small placenta, Ectrodac... ORPHA:397590
Trigonocephaly With Short Stature And Developmental Delay
Clinodactyly of the 5th finger, High palate, Ventricular septal defect, Broad alveolar ridges OMIM:314320
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Thick lower lip vermilion, High palate, Atria... OMIM:612946
Oculodentodigital Dysplasia
Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental enamel morphology, Short hallu... ORPHA:2710
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Flat capital femoral ... OMIM:147891
Heart And Brain Malformation Syndrome
Ventricular septal defect, Camptodactyly of finger, High, narrow palate, Cleft lip, Thick lower l... OMIM:616920
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Fryns Syndrome
Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malrotation, Cryp... ORPHA:2059
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... ORPHA:93259
Wildervanck Syndrome
Meningocele ORPHA:3456
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ... OMIM:311300
Vacterl With Hydrocephalus
Anophthalmia, Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Hypoplasia of... ORPHA:3412
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Postaxial polydactyly, Abnormally large globe, Hydrocephalus, Atrial s... OMIM:603387
Joubert Syndrome 7
Encephalocele, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum OMIM:611560
Waardenburg Syndrome Type 1
Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upper lip, Meningocele, Cl... ORPHA:894
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Toe syndactyly, Mitral stenosis, Camptodactyly of finger, Ventr... ORPHA:2008
Limb-Mammary Syndrome
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... OMIM:603543
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Ventricular septal defect, Camptodactyly of finger, Exaggerated cupid's... ORPHA:261236
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Protein-losing entero... OMIM:235510
Chromosome 13Q14 Deletion Syndrome
Thin upper lip vermilion, Overlapping toe, Ventricular septal defect, Single transverse palmar cr... OMIM:613884
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Atrial septal defect, Arachnodactyly, Bicuspid aortic valve, Postaxial polydactyly, Tapered finge... OMIM:619721
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Branchial ... ORPHA:261330
Mckusick-Kaufman Syndrome
Finger syndactyly, Ventricular septal defect, Tarsal synostosis, Aganglionic megacolon, Cryptorch... ORPHA:2473
Burn-Mckeown Syndrome
Ventricular septal defect, Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Thin vermilion bord... OMIM:608572
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Atrial septal defect, Overlapping fingers, Overlapping toe, Ventricular septal... ORPHA:464738
Kury-Isidor Syndrome
Finger syndactyly, Tented upper lip vermilion, Ventricular septal defect, Rocker bottom foot, Pro... OMIM:619762
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect, Overlapping toe, Downturned corners of mouth, Th... OMIM:618974
Cerebrooculonasal Syndrome
Encephalocele, Anophthalmia, Optic nerve hypoplasia, Postaxial polydactyly, Hydrocephalus, Postax... OMIM:605627
Martsolf Syndrome 1
Short metacarpal, Metatarsus adductus, Slender ulna, Short toe, Osteopathia striata, Broad finger... OMIM:212720
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Tapered finger, Abno... OMIM:239300
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Rocker bottom foot, Coxa valga, Carious teeth, Cryptorchidism, Elbow f... OMIM:214150
Trisomy 20P
Finger syndactyly, Macroorchidism, Camptodactyly of finger, Spina bifida, Abnormality of the dent... ORPHA:261318
Joubert Syndrome 10
Deep philtrum, Thick vermilion border, Postaxial polydactyly OMIM:300804
Mend Syndrome
Overlapping fingers, Broad hallux, Overlapping toe, Asymmetry of the mouth, Long fingers, Hydroce... ORPHA:401973
Cerebrooculofacioskeletal Syndrome 4
Rocker bottom foot, Camptodactyly of finger, Bilateral microphthalmos, Flared metaphysis, Adducte... OMIM:610758
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Broad secondary alveolar ridge, High palate, Ventricular septal defect, Fifth finger distal phala... ORPHA:3369
Seckel Syndrome 2
Clinodactyly of the 5th finger, Microphthalmia, Microglossia, Microdontia OMIM:606744
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Oligodontia, Cleft soft palate, Cryptorchidism, Gingival overgrowth, Mesomelia, ... OMIM:616331
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Short palm, Clinodactyly of the 5th finger, Atrioventricular canal defect,... ORPHA:508498
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Ventricular septal defect, Single transverse palmar crease, 2-3 toe s... OMIM:616449
Fanconi Anemia, Complementation Group S
Macrodontia, Proximal placement of thumb, Dental malocclusion, Narrow palate, Microphthalmia, Cli... OMIM:617883
Intellectual Developmental Disorder, Autosomal Dominant 23
Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Downturned corners ... OMIM:615761
Isotretinoin Syndrome
Spina bifida occulta, Cleft palate ORPHA:2305
Neu-Laxova Syndrome 1
Micromelia, Swollen lip, Calcaneovalgus deformity, Patent foramen ovale, Finger syndactyly, Spina... OMIM:256520
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Cardiomegaly, High,... ORPHA:3472
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Bicuspid aortic valve, Cleft upper lip, Cryptorchidism, Duplication of ... OMIM:243310
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ... OMIM:615779
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Abnormal tricuspid valv... ORPHA:1507
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
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
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Dextrocardia, Situs i... OMIM:615994
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Dental crowding, Hiatus hernia, Persistence of primary teeth, Gastroes... OMIM:619769
Meckel Syndrome, Type 6
Occipital encephalocele, Cleft upper lip, Hydrocephalus, Postaxial hand polydactyly, Anencephaly,... OMIM:612284
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Cleft lip, Cryptorchidism, Cleft palate, Abdominal situs inversus, Pul... OMIM:619123
Insulin-Like Growth Factor I, Resistance To
Thin upper lip vermilion, Rieger anomaly, Sandal gap, Ventricular septal defect, Narrow mouth, Sm... OMIM:270450
Subaortic Stenosis-Short Stature Syndrome
Bilateral single transverse palmar creases, Membranous subvalvular aortic stenosis, Subvalvular a... ORPHA:3191
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Preaxial hand polydactyly, Lymphoid nodular hyperplasia, Foot polydactyly ORPHA:210548
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip, Median cleft lip and palate, Bilateral cleft lip, Aloba... OMIM:610828
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Cryptorc... OMIM:618067
Congenital Rubella Syndrome
Ventricular septal defect, Aplasia/Hypoplasia of the iris, Atrial septal defect, Microphthalmia, ... ORPHA:290
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border, High palate... ORPHA:544254
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Hydrocephalus, Tracheoesophageal fistula, Orofacial cleft, Foot polyda... ORPHA:268249
Polysyndactyly With Cardiac Malformation
Syndactyly, Ventricular septal defect, Preaxial hand polydactyly, Duplication of phalanx of hallu... OMIM:263630
C Syndrome
Short metacarpal, Toe syndactyly, Ventricular septal defect, Micromelia, Accessory oral frenulum,... OMIM:211750
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thin upper lip vermilion, Ventricular septal defect, Short lingual frenulum, Narrow mouth, Downtu... OMIM:617360
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Cryptorchidism, 2-3 toe syndactyly, High palate, Talipes equinovarus, ... ORPHA:3306
Congenital Fibrinogen Deficiency
Clubbing of fingers, Gingival bleeding, Left ventricular hypertrophy, Microphthalmia, Volvulus, D... ORPHA:335
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Optic nerve hypoplasia, Hydrocephalus, Cardiomyopathy, Macroglossia, Mic... ORPHA:370959
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Lobulated tongue, Holoprosencephaly, Short palm, Patent foramen ovale, Hamart... OMIM:269860
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Bilateral single transverse palmar creases, High, narrow palate, Cleft... ORPHA:2516
Hogue-Janssen Syndrome 2
Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, De... OMIM:616362
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia OMIM:615181
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Proximal placement of thumb, Preaxial hand polydactyly, Deep philtrum,... OMIM:610536
Bardet-Biedl Syndrome 16
Polydactyly OMIM:615993
Adams-Oliver Syndrome 2
Single transverse palmar crease, Hydrocephalus, Absent distal phalanges, Short middle phalanx of ... OMIM:614219
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Thin upper lip vermilion, Cryptorchidism, Ulnar bowing, Shortening of all... OMIM:619135
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Tented upper lip vermilion, Broad hallux, Single transverse palmar crease, Short philtrum, High p... OMIM:614105
Cleidocranial Dysplasia
High, narrow palate, Coxa vara, Glossoptosis, Hypoplastic inferior ilia, Clinodactyly of the 5th ... ORPHA:1452
Meckel Syndrome, Type 1
Occipital encephalocele, Lobulated tongue, Syndactyly, Cleft upper lip, Cryptorchidism, Postaxial... OMIM:249000
Jansen-De Vries Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Small hand, Short foo... OMIM:617450
Adams-Oliver Syndrome 6
Syndactyly, Ventricular septal defect, Esophageal varix, Foot oligodactyly, Truncus arteriosus, B... OMIM:616589
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Cryptorchidism... ORPHA:1865
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Exaggerated cupid's bow, Single transverse palmar crease, Cleft lip, Deep philtrum, 2-3 toe synda... OMIM:620098
Fanconi Anemia
Abnormal femur morphology, High palate, Triphalangeal thumb, Atrial septal defect, Clinodactyly o... ORPHA:84
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... OMIM:119800
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, Dental malocclusion, Oligo... OMIM:618727
Microphthalmia, Syndromic 13
Microphthalmia, Widely-spaced incisors OMIM:300915
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Retinitis Pigmentosa 89
Esophageal varix, Bicuspid aortic valve, Postaxial polydactyly OMIM:618955
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Baraitser-Winter Syndrome 2
Thin upper lip vermilion, Orofacial cleft, Wide mouth, Long philtrum, Microphthalmia OMIM:614583
Cooper-Jabs Syndrome
Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb, Anteriorly place... ORPHA:1488
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Thin upper lip vermilion, Scapular winging, Sandal gap, Ventricular septal ... OMIM:617061
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Hyperextensibility of the finger joints, Thin upper lip vermilion, Toe syndactyly, Arachnodactyly... ORPHA:505237
Temtamy Syndrome
Dental crowding, Hip dislocation, Hypoplasia of teeth, Short 2nd toe, Talipes equinovarus, Long p... OMIM:218340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Microphthalmia, Hydrocephalus OMIM:613153
Hydrolethalus Syndrome 1
Median cleft lip, Ventricular septal defect, Preaxial hand polydactyly, Postaxial hand polydactyl... OMIM:236680
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Broad long bones, Dental crowding, Fifth finger distal phalanx clinoda... OMIM:257850
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Median cleft lip, Abno... ORPHA:3186
Woods Syndrome
Ventricular septal defect, Single transverse palmar crease, 3-4 finger cutaneous syndactyly, Thin... OMIM:615236
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Abnormal palmar dermatoglyphics, Microdontia, Cryptorchidism, Cleft palate, Hypoplasia of teeth, ... ORPHA:2728
Microphthalmia, Syndromic 2
Anophthalmia, 2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Atrial septal defect, Contr... OMIM:300166
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Catel-Manzke Syndrome
Single transverse palmar crease, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid... OMIM:616145
Constricting Bands, Congenital
Encephalocele, Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Talipes equinovarus, ... OMIM:217100
Joubert Syndrome 37
Postaxial polydactyly, Cryptorchidism, High palate, Microphthalmia, Decreased testicular size OMIM:619185
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Tapered finger, Triangular mouth, Flattened epiphysis, Genu valgum, Polydac... OMIM:607131
Genitopalatocardiac Syndrome
Cryptorchidism, Hydrocephalus, Postaxial hand polydactyly, Non-midline cleft lip, Cleft palate, D... ORPHA:2075
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Preaxia... OMIM:263520
Chromosome 9P Deletion Syndrome
Long toe, Thin upper lip vermilion, Sandal gap, Ventricular septal defect, Hallux varus, Tapered ... OMIM:158170
Acro-Renal-Ocular Syndrome
Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Optic disc hypoplasia, Toe synda... ORPHA:959
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... OMIM:615986
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Cleft upper lip, Hydrocephalus, Cleft palate, Buphthalmos, Macroglossia, Microphth... OMIM:613150
19P13.3 Microduplication Syndrome
Ventricular septal defect, Unilateral cryptorchidism, Long fingers, Hip dislocation, Cleft palate... ORPHA:447980
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Osteopathia striata, High palate, Gastroesophageal reflux, Atrial septal defect,... OMIM:300373
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormal morphology of the radius, Median cleft lip, Radial club hand, Cleft palate, Holoprosence... ORPHA:2165
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cryptorchidism, Hydrocephalus, Orofacial cleft, Aplasia/Hypoplasia involvi... ORPHA:3301
3Q29 Microdeletion Syndrome
Dental crowding, Tapered finger, Abnormality of the dentition, Orofacial cleft, High palate, Shor... ORPHA:65286
Emanuel Syndrome
Congenital hip dislocation, Truncus arteriosus, Ventricular septal defect, Dental crowding, Delay... OMIM:609029
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Velopharyngeal in... ORPHA:199306
Ulnar-Mammary Syndrome
Abnormal morphology of the radius, Ventricular septal defect, Camptodactyly of finger, Abnormalit... ORPHA:3138
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scapular winging, Ventricular septal defect, Monkey wrench femoral neck, Micromelia, Single trans... OMIM:618870
Distal Deletion 19P
Long toe, Ventricular septal defect, Arachnodactyly, Cleft palate, Short philtrum, Tricuspid valv... ORPHA:96129
Oculodentodigital Dysplasia
Atrial septal defect, Selective tooth agenesis, Microdontia, Cleft upper lip, Carious teeth, 4-5 ... OMIM:164200
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Bilateral cleft lip and palate ORPHA:1473
Opitz-Kaveggia Syndrome
Dental crowding, Single transverse palmar crease, Anteriorly placed anus, Prominent fingertip pad... OMIM:305450
Fetal Alcohol Syndrome
Thin upper lip vermilion, Microdontia, Non-midline cleft lip, Cleft palate, Atrial septal defect,... ORPHA:1915
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Dental crowding, Tibial bowing, High palate, Short philtrum, Microdontia, Clinodactyly of the 5th... ORPHA:251028
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great a... OMIM:306955
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Optic disc hypoplasia, Absent radius, Preaxial hand polydactyly,... ORPHA:233
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Overlapping toe, Cleft lip, Deep philtrum, Cleft palate, Abnormal heart morphology, Downturned co... OMIM:618571
Tarp Syndrome
Meckel diverticulum, Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, ... OMIM:311900
Focal Dermal Hypoplasia
Anophthalmia, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Anteriorly place... OMIM:305600
Noonan Syndrome 12
Anteriorly placed anus, Tetralogy of Fallot, Ventricular septal defect, Proximal placement of thumb OMIM:618624
Tyshchenko Syndrome
Ventricular septal defect, High, narrow palate, Cryptorchidism, Narrow palate, Cleft palate, High... OMIM:615102
Holoprosencephaly
Anophthalmia, Deep philtrum, Gastroesophageal reflux, Holoprosencephaly, Encephalocele, Bilateral... ORPHA:2162
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Ohdo Syndrome, X-Linked
Ulnar deviation of the hand, Overlapping toe, Hiatus hernia, Short thumb, Cryptorchidism, Long th... OMIM:300895
Short Stature-Micrognathia Syndrome
Rhizomelia, Ventricular septal defect, Bowing of the legs, Coxa valga, Cryptorchidism, Metaphysea... OMIM:617164
Multiple Benign Circumferential Skin Creases On Limbs
Cryptorchidism, Cleft palate, Upper limb asymmetry, Umbilical hernia, Long philtrum, Microphthalmia ORPHA:2505
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Cleft upper lip, Cryptorchidism, Hydrocephalus, Postaxial h... OMIM:610829
Weill-Marchesani Syndrome
Ventricular septal defect, Short thumb, Pulmonic stenosis, Aortic valve stenosis, Brachydactyly ORPHA:3449
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, High palate, Phocomelia, Clinodacty... ORPHA:3103
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Ventricular septal defect, Cryptorchidism OMIM:613730
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... ORPHA:1209
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Protruding tongue, Hydrocephalus, Gingival overgrowth, Abnormal heart mo... ORPHA:93400
Cloacal Exstrophy
Intestinal malrotation, Spina bifida, Myelomeningocele, Abnormal tibia morphology, Absent foot, H... ORPHA:93929
Lateral Meningocele Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dental crowding, Cryptorchidism, Hydrocephalus,... OMIM:130720
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Limited elbo... OMIM:610759
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Foot oligodactyly, Triphalangeal thumb, Bro... OMIM:154400
Walker-Warburg Syndrome
Anophthalmia, Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Metatarsu... ORPHA:899
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Micromelia, Conical incisor, Atrial septal defect, Microdontia, ... ORPHA:289
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Shor... ORPHA:500159
Lateral Meningocele Syndrome
Ventricular septal defect, Dental crowding, High, narrow palate, Cryptorchidism, Meningocele, Hig... ORPHA:2789
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Glossoptosis, Meningocele ORPHA:2031
Joubert Syndrome 39
Occipital encephalocele, Hypoplastic left heart, Joint contracture of the 5th finger, Postaxial p... OMIM:619562
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... OMIM:217095
Bardet-Biedl Syndrome 8
Situs inversus totalis, Postaxial polydactyly OMIM:615985
20P13 Microdeletion Syndrome
Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Polydactyly, Clinodactyl... ORPHA:313781
Emanuel Syndrome
Delayed eruption of teeth, Congenital hip dislocation, Truncus arteriosus, Ventricular septal def... ORPHA:96170
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Thin upper lip vermilion, Overlapping toe, Ventricular septal defect, Down-sloping shoulders, Tap... OMIM:617452
Contractural Arachnodactyly, Congenital
Hip contracture, Bowing of the long bones, Arachnodactyly, Bicuspid aortic valve, Ventricular sep... OMIM:121050
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Aloba... OMIM:301043
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Exaggerated cupid's bow, Camptodactyly of finger, Abnormality of the dentition... ORPHA:284160
Tatton-Brown-Rahman Syndrome
Everted upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Exaggerated cupid... OMIM:615879
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Bilateral talipes... OMIM:600145
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Fanconi Anemia, Complementation Group J
Microphthalmia, Short thumb OMIM:609054
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Cleft palate, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, C... ORPHA:306542
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Coffin-Siris Syndrome 7
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Thick lower lip vermi... OMIM:618027
Craniofacial Dyssynostosis With Short Stature
Pyloric stenosis, Hydrocephalus, Ventricular septal defect, Cryptorchidism OMIM:218350
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Postaxial polydactyly, Micromelia, Hypoplastic ilia, Hypop... OMIM:617895
Kapur-Toriello Syndrome
Ventricular septal defect, Intestinal malrotation, Orofacial cleft, Microphthalmia, Tetralogy of ... ORPHA:2328
9Q21.13 Microdeletion Syndrome
Cryptorchidism, Abnormal tongue morphology, Gastrointestinal dysmotility, Abnormal heart morpholo... ORPHA:531151
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Ventricular septal defect, Thin vermilion border, Long philtrum, ... ORPHA:85194
Delpire-Mcneill Syndrome
Ventricular septal defect, Tracheoesophageal fistula, Hip dislocation, Dysphagia OMIM:619083
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Cleft palate, Right ventricular hypertrophy, Atrial septal defect, Cli... OMIM:614261
Johnson Neuroectodermal Syndrome
Carious teeth, Preaxial hand polydactyly, Cleft palate, Hand polydactyly, Everted lower lip vermi... ORPHA:2316
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the f... ORPHA:2256
Chromosome 5Q12 Deletion Syndrome
Long toe, Ventricular septal defect, Long fingers, Wide mouth, Macroglossia, Short philtrum, Long... OMIM:615668
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... ORPHA:85167
Myoclonic-Astatic Epilepsy
Thin upper lip vermilion, Syndactyly, Thick lower lip vermilion, Wide mouth, Long philtrum, Micro... ORPHA:1942
Townes-Brocks Syndrome 1
Short metatarsal, Gastroesophageal reflux, Holoprosencephaly, Triphalangeal thumb, Atrial septal ... OMIM:107480
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Osteoporosis-Pseudoglioma Syndrome
Crumpled long bones, Metaphyseal widening, Abnormal femoral neck/head morphology, Microphthalmia,... ORPHA:2788
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Aplasia of the distal... ORPHA:364577
Opitz Gbbb Syndrome
Anal atresia, Thin upper lip vermilion, Ventricular septal defect, Cleft upper lip, Rectourethral... OMIM:300000
Meier-Gorlin Syndrome 7
2-4 finger syndactyly, Anal stenosis, Ventricular septal defect, Bowing of the legs, Aplasia/Hypo... OMIM:617063
Orofaciodigital Syndrome Type 1
Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental... ORPHA:2750
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Optic nerve hypoplasia, Absent thumb, Short thumb, Patent foramen oval... OMIM:609053
3Mc Syndrome 1
Atrial septal defect, Ventricular septal defect, Single interphalangeal crease of fifth finger, D... OMIM:257920
Congenital Disorder Of Glycosylation, Type Iil
Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Esophageal varix, Inflammation o... OMIM:614576
Grange Syndrome
Syndactyly, Ventricular septal defect, Short palm ORPHA:79094
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing... OMIM:268305
Chromosome 18Q Deletion Syndrome
U-Shaped upper lip vermilion, Thin upper lip vermilion, Toe syndactyly, Overlapping toe, Rocker b... OMIM:601808
Septooptic Dysplasia
Polydactyly, Optic disc hypoplasia, Optic nerve hypoplasia, Short finger OMIM:182230
Jacobsen Syndrome
Long hallux, Abnormality of the anus, Broad hallux phalanx, Finger syndactyly, Spina bifida, Cryp... ORPHA:2308
Megabladder, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... OMIM:618719
Campomelic Dysplasia
Irregular dentition, Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia... OMIM:114290
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Cleft palate, Cleft upper lip OMIM:214300
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Optic disc hypoplasia, Absent thumb, Esophageal atresia, Hydrocephalus... OMIM:300514
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Single transverse palmar crease, Hydrocephalus, Clef... OMIM:309801
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Palmar pits, Narrow mouth, Hydroce... ORPHA:77301
Hallermann-Streiff Syndrome
Natal tooth, Selective tooth agenesis, Spina bifida, Abnormality of the hand, High, narrow palate... OMIM:234100
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Bicuspid aortic valve, Unilateral microphthalmos, Anal atresia OMIM:619318
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Exaggerated cupid's bow, Cryptorchidism, Cleft palate, Downturned c... OMIM:614230
Joubert Syndrome 2
Encephalocele, Hydrocephalus, Postaxial hand polydactyly, Postaxial foot polydactyly, High palate... OMIM:608091
Bohring-Opitz Syndrome
Syndactyly, Bilateral cleft palate, Overlapping toe, Ventricular septal defect, Intestinal malrot... OMIM:605039
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Unilateral microphthalmos, Mitral valve prolapse, Bilateral cleft lip a... OMIM:618874
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... OMIM:149730
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Open mouth, Ventricular septal defect OMIM:616816
Nance-Horan Syndrome
Supernumerary tooth, Microphthalmia, Short metacarpal, Abnormality of the dentition ORPHA:627
Jacobsen Syndrome
Atrial septal defect, Ventricular septal defect, Pyloric stenosis, Hydrocephalus, Cryptorchidism,... OMIM:147791
Congenital Heart Defects And Skeletal Malformations Syndrome
Atrial septal defect, Arachnodactyly, Sandal gap, Ventricular septal defect, Dental crowding, Car... OMIM:617602
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Hypoplasia of the iris, Subvalvular aor... OMIM:613001
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Broad hallux, Ventricular septal defect, Clinodactyly of the 2nd toe, Coxa valga, Cryptorchidism,... OMIM:620073
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Hypertrophic cardiomyopathy, High palate, Single transverse palmar crease OMIM:619053
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... ORPHA:1826
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin upper lip vermilion, Cryptorchidism, Small hand, Short foot, Thin vermilion border, Short pa... OMIM:241410
Short Stature And Facioauriculothoracic Malformations
High palate, Ventricular septal defect, Cleft palate, Cleft upper lip OMIM:609654
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Dysphagia OMIM:616276
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Ventricular septal defect, Short hallux, Proxi... ORPHA:2438
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Anteriorly placed anus, Downturned corners of mouth, Patent foramen oval... OMIM:616894
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Holoprosencephaly, Tra... OMIM:253800
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Camptodactyly of finger ORPHA:48431
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... OMIM:607941
Recombinant 8 Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Bilateral single transv... ORPHA:96167
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... ORPHA:93260
Larsen Syndrome
Short metacarpal, Ventricular septal defect, Spatulate thumbs, Cleft upper lip, Elbow dislocation... OMIM:150250
Amish Lethal Microcephaly
Cleft soft palate, Spina bifida ORPHA:99742
Diamond-Blackfan Anemia 21
Hallux valgus, Sandal gap, Tapered finger, Secundum atrial septal defect, Preaxial hand polydacty... OMIM:620072
Prune Belly Syndrome
Congenital hip dislocation, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Ta... ORPHA:2970
19P13.12 Microdeletion Syndrome
Short palm, Finger syndactyly, Atrial septal defect, Sandal gap, Ventricular septal defect, Crypt... ORPHA:254346
Frank-Ter Haar Syndrome
Abnormally large globe, Secundum atrial septal defect, High palate, Short palm, Atrial septal def... OMIM:249420
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, ... ORPHA:861
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect, Preaxial hand polydactyly, Cleft palate, Accessory oral frenulum ORPHA:79113
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Syndactyly, Ventricular septal defect, Single transver... ORPHA:1708
Fetal Trimethadione Syndrome
Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect... ORPHA:1913
Nephronophthisis 15
Polydactyly OMIM:614845
Skraban-Deardorff Syndrome
Ventricular septal defect, Absent cupid's bow, Cleft palate, Widely spaced teeth, Thick upper lip... OMIM:617616
Frontonasal Dysplasia 3
Microphthalmia, Cleft palate OMIM:613456
15Q14 Microdeletion Syndrome
Ventricular septal defect, Abnormality of the dentition, Cleft palate, Short philtrum, Long philt... ORPHA:261190
Warsaw Breakage Syndrome
Ventricular septal defect, Single transverse palmar crease, 2-3 toe syndactyly, Wide mouth, High ... OMIM:613398
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Toe syndactyly, Ventricular septal defect, Dextrocardia, Intestinal malrotation, Bilateral single... OMIM:619657
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Ventricular septal defect, Tapered finger, Interphalangeal thumb joint con... OMIM:613870
Nance-Horan Syndrome
Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Microphthalmia, Screwdri... OMIM:302350
Lathosterolosis
Toe syndactyly, Postaxial hand polydactyly, Meningocele, Gingival overgrowth, Postaxial foot poly... ORPHA:46059
Thoracoabdominal Syndrome
Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate, Transposition of the great arteries, E... OMIM:313850
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Hip dysplasia, Gastroesopha... ORPHA:494344
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Thin upper lip vermilion, Oligodontia, Ventricular septal defect OMIM:618330
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Cleft l... OMIM:619343
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp... ORPHA:989
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Cryptorchidism, Polydactyly, Hypoplastic ischia OMIM:616910
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormality of the gastrointestinal tract, Bicuspid aortic valve, Ventricular septal defect, Cryp... ORPHA:453499
Donnai-Barrow Syndrome
Umbilical hernia, Ventricular septal defect, Intestinal malrotation ORPHA:2143
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Mend Syndrome
Broad hallux, Overlapping toe, Long fingers, Hydrocephalus, Cryptorchidism, 2-3 toe syndactyly, M... OMIM:300960
Joubert Syndrome 40
Optic nerve hypoplasia, Postaxial polydactyly OMIM:619582
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly ORPHA:163681
Fryns Syndrome
Tented upper lip vermilion, Single transverse palmar crease, Proximal placement of thumb, Atrial ... OMIM:229850
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Arachnodactyly, Cryptorchidism, Short philtrum, Talipes equinovarus, C... OMIM:301039
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect, Talipes equinovarus OMIM:209770
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Short metatarsal, Femoral bowing, Tibial bowing, Atrial septal defect... OMIM:304120
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Femoral bowing, Macrogl... OMIM:617022
Filippi Syndrome
Finger syndactyly, Enlarged epiphyses, Ventricular septal defect, Cryptorchidism, Thin vermilion ... ORPHA:3255
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Fractured radius, Ventricular septal defect, Decreased fibular diameter, Cardiomegal... OMIM:616897
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Clef... ORPHA:457193
Atelis Syndrome 1
Ventricular septal defect, Carious teeth, High palate, Long philtrum, Atrial septal defect OMIM:620184
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventricular septal defect, Postaxial polydactyly OMIM:219730
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, Micromelia, High, narrow palate, Abnormality of the gingiva, Oro... ORPHA:2753
Microphthalmia, Lenz Type
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... ORPHA:568
Pseudoaminopterin Syndrome
Brachydactyly, Overlapping toe, Single transverse palmar crease, Postaxial polydactyly, Limited e... ORPHA:221120
Double Outlet Right Ventricle
Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig... ORPHA:3426
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Ventricular septal defect, Increased overbite, Abnormally large globe OMIM:618504
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Gastroesophageal reflux, Cryptorchidism, Humeror... OMIM:134780
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo... ORPHA:1458
Ivic Syndrome
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s... ORPHA:2307
Robinow Syndrome
Dental crowding, Orofacial cleft, Atrial septal defect, Syndactyly, Persistence of primary teeth,... ORPHA:97360
Myhre Syndrome
Short philtrum, Hypoplastic iliac wing, Atrial septal defect, Pericardial effusion, Cleft lip, Sh... OMIM:139210
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
22Q11.2 Deletion Syndrome
Anorectal anomaly, Short philtrum, Gastroesophageal reflux, Atrial septal defect, Arachnodactyly,... ORPHA:567
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart val... ORPHA:363705
Rubinstein-Taybi Syndrome 1
Dental crowding, Single transverse palmar crease, Bilateral cryptorchidism, High, narrow palate, ... OMIM:180849
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Trichothiodystrophy 3, Photosensitive
Natal tooth, Carious teeth, Pyloric stenosis, Bilateral cryptorchidism, Eclabion, Microphthalmia,... OMIM:616395
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperextensibility of the finger joints, Thin upper lip vermilion, Macroorchidism, Ventricular se... OMIM:309520
Isotretinoin Embryopathy-Like Syndrome
Cleft palate, Hydrocephalus, Conotruncal defect OMIM:243440
Weill-Marchesani Syndrome 2
Short metacarpal, Ventricular septal defect, Microspherophakia, Short metatarsal, Tooth malpositi... OMIM:608328
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
U-Shaped upper lip vermilion, Ventricular septal defect, Coxa valga, Tapered finger, Diastema, Pr... OMIM:301040
Waardenburg Syndrome
Abnormality of the gastrointestinal tract, Intestinal obstruction, Aplasia/Hypoplasia of the colo... ORPHA:3440
Branchio-Oculo-Facial Syndrome
Preaxial hand polydactyly, Deep philtrum, Non-midline cleft lip, Orofacial cleft, Tooth agenesis,... ORPHA:1297
Fanconi Anemia, Complementation Group D2
Absent thumb, Absent radius, Short thumb, Hydrocephalus, Preaxial hand polydactyly, Partial dupli... OMIM:227646
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Cryptorchidism, Short long bone, Postaxial polydactyly, Brachydactyly OMIM:615633
Joubert Syndrome 27
Thick lower lip vermilion, Polydactyly OMIM:617120
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Optic nerve hypoplasia, Rocker bottom foot, Coxa valga, Cryptorchidism... OMIM:301056
Au-Kline Syndrome
Overlapping toe, Postaxial polydactyly, Coxa valga, Cryptorchidism, Lipomyelomeningocele, Dental ... OMIM:616580
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Hi... OMIM:271640
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Loeys-Dietz Syndrome 5
Atrial septal defect, Scapular winging, Tented upper lip vermilion, Arachnodactyly, Ventricular s... OMIM:615582
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Gastroesophageal reflux, Holoprosencephaly, Atrial septal defect, Ad... ORPHA:818
Fanconi Anemia, Complementation Group L
Absent thumb, Absent radius, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Cleft ... OMIM:614083
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmo... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmo... ORPHA:352665
Spondylocostal Dysostosis 4, Autosomal Recessive
Anal stenosis, Dextrocardia, Situs inversus totalis, Myelomeningocele, Hydrocephalus, Ectopic anu... OMIM:613686
Yuan-Harel-Lupski Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Sandal gap, Ventricular septal defect, High pala... OMIM:616652
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Sandal gap, Ventricular septal... ORPHA:477817
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Optic nerve hypoplasia, Cleft upper lip, Meningoencephalocele, Hydroceph... OMIM:236670
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Atrial septal defect, Thin upper lip vermilion, Contracture of the proximal interphalangeal joint... OMIM:300998
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Ventricular septal defect, Proximal placement of thumb, Exaggerated cupid'... OMIM:618619
Radio-Tartaglia Syndrome
Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Tapered finger, High, narro... OMIM:619312
Koolen-De Vries Syndrome
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Pyloric ... OMIM:610443
Acrofrontofacionasal Dysostosis 1
Short metacarpal, Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, Microphthalmia, Acetabu... OMIM:201180
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect OMIM:613759
Skin Creases, Congenital Symmetric Circumferential, 1
Long fingers, Cleft palate, High palate, Narrow mouth, Microphthalmia, Long philtrum OMIM:156610
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, ... ORPHA:210122
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Optic nerve hypoplasia, Proximal placement of thumb, Cryptorchidism, D... ORPHA:261250
Incontinentia Pigmenti
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... ORPHA:464
Tarp Syndrome
Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, Cr... ORPHA:2886
Wolf-Hirschhorn Syndrome
Single transverse palmar crease, Orofacial cleft, Downturned corners of mouth, Short philtrum, Ga... OMIM:194190
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Dental crowding, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Gastroesophage... OMIM:301044
Costello Syndrome
Ventricular septal defect, Abnormal dental enamel morphology, Abnormality of the dentition, Crypt... ORPHA:3071
Momo Syndrome
Delayed eruption of teeth, Bilateral microphthalmos, Thick lower lip vermilion, Dental malocclusi... ORPHA:2563
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Atrial septal defect, Stomach cancer, Cleft palate, Colon cancer, Holoprose... ORPHA:1052
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Dysphagia OMIM:308350
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Proximal placement of thumb, Micromelia, High, narrow palate, Do... OMIM:122470
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... OMIM:208530
19Q13.11 Microdeletion Syndrome
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Congenital hip dislocation, Cryptor... ORPHA:217346
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Hydrocephalus, Abnormally large globe OMIM:615249
Pallister-Hall Syndrome
Holoprosencephaly, Atrial septal defect, Atrioventricular canal defect, Bifid uvula, Mesoaxial po... ORPHA:672
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Smooth philtrum, Ulnar deviation of the hand, Ventricular septal defect, Proximal placement of th... OMIM:620113
Van Esch-O'Driscoll Syndrome
Atrial septal defect, Ventricular septal defect, Esophageal atresia, Pulmonary valve atresia, Tra... OMIM:301030
Timothy Syndrome
Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Cutaneous syndactyly, Microdon... OMIM:601005
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Preaxial hand polydactyly, Talipes equinovarus, Anal atresia OMIM:601389
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Femoral bowing, Foot oligodactyly, High palate, Aplasia/Hypoplasia of the tarsal bones, Phocomeli... OMIM:276820
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Codas Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Metaphyseal dysplasia, Ventricular se... OMIM:600373
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cryptorchidism, Ventricular septal defect, Hypoplastic left heart, Micromelia ORPHA:2772
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Tibial bowing, Shoulder dislocation, High palate, Widely spaced teeth, Microdontia, Short phalanx... OMIM:143095
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Hyperextensibility of the finger joints, Thin upper lip vermilion, Ventricular septal d... ORPHA:163979
Chime Syndrome
Ventricular septal defect, Abnormal dental morphology, Aplastic clavicle, Abnormality of the dent... ORPHA:3474
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Narrow greater sciatic notch, Short phalanx of finger, Broad metacarpals,... ORPHA:508533
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Selective tooth agenesis, Conical tooth, Cleft upper lip, 2-3 toe synd... OMIM:106260
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Cardiomyopathy, Gastroesophage... OMIM:249270
Joubert Syndrome
Encephalocele, Aganglionic megacolon, Situs inversus totalis, Hydrocephalus, Orofacial cleft, Han... ORPHA:475
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Bicuspid aortic valve, Ventricular septal d... ORPHA:457279
Lumbar Syndrome
Spina bifida, Cryptorchidism, Myelomeningocele, Ectopic anus, Anal atresia ORPHA:83628
Down Syndrome
Single transverse palmar crease, Hypoplastic iliac wing, Atrial septal defect, Short palm, Atriov... OMIM:190685
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger,... OMIM:280000
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Distal Duplication 5Q
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Absent thumb, Carious teeth, Cry... ORPHA:96097
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventricular septal defect, Cleft palate OMIM:620210
Intellectual Developmental Disorder, Autosomal Dominant 48
Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve, Open mouth OMIM:617751
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula ORPHA:2736
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Celiac disease, Absent... ORPHA:284169
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele, Orofacial cleft, Hypoplastic iris stroma, Smooth philtrum OMIM:193500
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Postaxial polydactyly, Tapered finger, Abnormality of the dentition, Small hand, Hip dislocation,... OMIM:300968
Fraser Syndrome
Encephalocele, Finger syndactyly, Anal stenosis, Anophthalmia, Toe syndactyly, Dental crowding, C... ORPHA:2052
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Thin upper lip vermilion, Deep philtrum, Thick lower lip vermilion, Long philtrum, Microphthalmia OMIM:152950
Bartsocas-Papas Syndrome 1
Bilateral cryptorchidism, Hypoplastic iliac wing, Patent foramen ovale, Short phalanx of finger, ... OMIM:263650
Alagille Syndrome
Hypoplasia of the ulna, Atrial septal defect, Ventricular septal defect, Cryptorchidism, Short ph... ORPHA:52
Frontonasal Dysplasia 2
Encephalocele, Conical tooth, Bilateral cryptorchidism, Widely spaced teeth, Microphthalmia, Broa... OMIM:613451
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Abnormal acetabulum morphology, Postaxial polydactyly, Rhizomelic leg sh... ORPHA:397715
Bardet-Biedl Syndrome 1
Syndactyly, Dental crowding, Aganglionic megacolon, Postaxial polydactyly, High, narrow palate, P... OMIM:209900
Atelis Syndrome 2
Single transverse palmar crease, Diastema, Thick lower lip vermilion, Supravalvar pulmonary steno... OMIM:620185
Warburg Micro Syndrome 3
Narrow palate, Downturned corners of mouth, Clinodactyly of the 5th finger, Microphthalmia, Decre... OMIM:614222
Popliteal Pterygium Syndrome
Cleft upper lip, Cryptorchidism, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finge... OMIM:119500
Velocardiofacial Syndrome
Ventricular septal defect, Abnormality of the hand, Cryptorchidism, Velopharyngeal insufficiency,... OMIM:192430
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Camptodactyly of finger, Rocker bottom foot OMIM:610756
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Tracheoesophageal fistula, Downturned cor... ORPHA:1780
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Optic nerve hypoplasia, Hydrocephalus, Microphthalmia, Adducted thumb OMIM:614643
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Ventricular septal defect, Secundum atrial septal defect, Short thumb,... OMIM:612562
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Postaxial hand polydactyly, Everted lower lip vermilion, Long philtrum... ORPHA:75389
Fanconi Anemia, Complementation Group F
Absent thumb, Short thumb, Cryptorchidism, Hypoplasia of the radius, 2-3 finger syndactyly, Atria... OMIM:603467
Microphthalmia, Syndromic 5
Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, Microphthalmia OMIM:610125
Frontofacionasal Dysplasia
Cleft upper lip, Orofacial cleft, Cranium bifidum occultum, Microphthalmia, Bifid uvula OMIM:229400
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m... ORPHA:1071
Joubert Syndrome 20
4-5 toe syndactyly, Postaxial polydactyly OMIM:614970
8Q24.3 Microdeletion Syndrome
Branchial cyst, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Cleft ma... ORPHA:508488
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Single transverse palmar crease, Cryptorchid... OMIM:247200
Maternal Phenylketonuria
Ventricular septal defect, Bifid distal phalanx of the thumb, Esophageal atresia, Double outlet r... ORPHA:2209
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Ventricular septal defect, Abnormal tricuspid valve morphology, Intestinal atresia ORPHA:3405
Weill-Marchesani Syndrome 1
Ventricular septal defect, Microspherophakia, Tooth malposition, Broad palm, Narrow palate, Pulmo... OMIM:277600
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Ventricular septal defect, Abnormal thumb morphology, Metatarsus adductus, Abnormal right ventric... ORPHA:500095
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Tapered finger, Cryptorchidism, Flat acetabular roof, Anteriorly place... OMIM:617159
Marshall-Smith Syndrome
Irregular dentition, Bilateral cryptorchidism, Distal widening of metacarpals, Coxa vara, Anterio... OMIM:602535
Sotos Syndrome
Ventricular septal defect, High, narrow palate, Muscular ventricular septal defect, Long metacarp... OMIM:117550
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Wide mouth, Pulmonic stenosis, Atrial septal defect, Hypertrophic card... OMIM:615279
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Umbilical hernia, Ventricular septal defect, Abnormal heart morphology ORPHA:254534
Aicardi Syndrome
Proximal placement of thumb, Hiatus hernia, Spina bifida, Cleft upper lip, Cleft palate, Hepatobl... OMIM:304050
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Anal atresia, Toe syndactyly, Ventricular septal defect, Camptodactyly of fing... ORPHA:261337
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Refsum Disease
Short metacarpal, Cardiomyopathy, Hammertoe, Abnormal epiphysis morphology, Microphthalmia ORPHA:773
Renal Agenesis, Bilateral
Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abnormal intestine m... ORPHA:1848
Charge Syndrome
Anophthalmia, Abnormal palmar dermatoglyphics, Secundum atrial septal defect, Hand monodactyly, H... OMIM:214800
Neu-Laxova Syndrome
Abnormality of the philtrum, Spina bifida, Micromelia, Submucous cleft hard palate, Cleft palate,... ORPHA:2671
Serkal Syndrome
Orofacial cleft, Malrotation of small bowel, Ventricular septal defect, Pulmonic stenosis ORPHA:139466
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly, Hip dysplasia, High palate, Long philtrum, Open mouth OMIM:618798
Fraser Syndrome 1
Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Anophthalmia... OMIM:219000
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Single transverse palmar crease, Widely spaced teeth, High palate, Atrial ... OMIM:612474
King-Denborough Syndrome
Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, Deep philtrum, High palate OMIM:619542
Cerebellofaciodental Syndrome
Ventricular septal defect, Single transverse palmar crease, Tapered finger, Cryptorchidism, Denta... OMIM:616202
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, High palate, Ventricular septal defect, Brachydactyly OMIM:619995
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
Mullegama-Klein-Martinez Syndrome
Thin upper lip vermilion, Cleft lip, Cleft palate, Submucous cleft of soft and hard palate, Hypop... OMIM:301022
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect, Cryptorchidism, Wide mouth, Gastroesophageal reflux, Widely-spaced inc... OMIM:617635
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, Postaxial hand polydactyly, ... OMIM:235255
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616277
Joubert Syndrome 23
Polydactyly OMIM:616490
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Cerebrocostomandibular Syndrome
Short humerus, Atrial septal defect, Anal stenosis, Ventricular septal defect, Cleft soft palate,... OMIM:117650
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Dilated cardiomyopathy OMIM:618805
Renpenning Syndrome 1
Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Macrodontia, Situs inv... OMIM:309500
Hajdu-Cheney Syndrome
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Hydrocephalus, Dental malocclu... OMIM:102500
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Exaggerated cupid's bow, Spina bifida, Tapered finger, Thick vermilion border, Gastroesophageal r... OMIM:619480
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Congenital hip dislocation, Short thumb, Supernumerary tooth, Cryptorc... OMIM:268400
X Small Rings
Thin upper lip vermilion, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Taper... ORPHA:96201
Monosomy 13Q14
Abnormality of the gastrointestinal tract, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ho... ORPHA:1587
Marden-Walker Syndrome
Arachnodactyly, Camptodactyly of finger, Ventricular septal defect, Dextrocardia, Metatarsus addu... ORPHA:2461
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Brachydactyly OMIM:613819
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Absent thumb, Cleft upper lip, Short thumb, Partia... OMIM:105650
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Oligodontia, Widely spaced teeth, Gastroesophageal reflux, Short 4th toe, At... OMIM:615873
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Thin upper lip vermilion, Ventricular septal defect, Abnormally large globe, Cryptorchidism, Post... ORPHA:1655
Laurence-Moon Syndrome
Polydactyly, Abnormality of the hand OMIM:245800
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect, Macrodontia, Proximal placement of thumb, Coxa valga, Diastema, Protru... OMIM:212066
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Ventricular septal defect, Cleft lip, Cryptorchidism, Furrowed tongue, Hip dysplasia,... OMIM:616975
Chromosome 15Q25 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Cleft upper lip, Long finger... OMIM:614294
X-Linked Dominant Chondrodysplasia Punctata
Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Epiphyseal stippling, High ... ORPHA:35173
Holoprosencephaly 14
Median cleft lip, Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Cleft... OMIM:619895
Teebi Hypertelorism Syndrome 1
Thin upper lip vermilion, Natal tooth, Ventricular septal defect, Dental crowding, Small hand, Br... OMIM:145420
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Camptodactyly of finger, Lip pit, Tapered finger, Hypodontia, Microphthalmia, Broad thumb, Abnorm... ORPHA:1236
Pontocerebellar Hypoplasia, Type 8
Tented upper lip vermilion, Ventricular septal defect, Gastroesophageal reflux, Talipes equinovar... OMIM:614961
Hallermann-Streiff Syndrome
Natal tooth, Abnormality of the dentition, High, narrow palate, Supernumerary tooth, Cryptorchidi... ORPHA:2108
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Ventricular septal defect, Intestinal malrotation, Ileal atresia, Jejunal... OMIM:243150
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Thin upper lip vermilion, Natal tooth, Broad hallux, Single transverse palmar cre... OMIM:620186
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Cryptorchidism, Thick lower lip vermilion, Submucous cleft hard palate... OMIM:619103
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Tented upper lip vermilion, Deep philtrum, Abnormal heart morphology, High palate, Polydactyly ORPHA:314655
Multifocal Atrial Tachycardia
Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Hypertrophic ... ORPHA:3282
Adnp Syndrome
Thin upper lip vermilion, Broad hallux, Sandal gap, Single transverse palmar crease, Oral-pharyng... ORPHA:404448
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia, Narrow mouth OMIM:614833
Ulnar-Mammary Syndrome
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... OMIM:181450
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Arachnodactyly, Abnormal heart valve morphology, Short hallux, Cleft upp... ORPHA:280
Roberts-Sc Phocomelia Syndrome
Tetraphocomelia, High palate, Atrial septal defect, Phocomelia, Wrist flexion contracture, Hypopl... OMIM:268300
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow greater sciatic notch, Short palm, Atrial septal defect, Hepatoblastoma, Exaggerated media... OMIM:312870
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Microphthalmia OMIM:167730
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly OMIM:600151
Galloway-Mowat Syndrome 1
Hiatus hernia, Hypoplasia of the iris, Wide mouth, High palate, Talipes equinovarus, Camptodactyl... OMIM:251300
Galloway-Mowat Syndrome 3
Arachnodactyly, Hiatus hernia, Narrow mouth, Hip dislocation, High palate, Camptodactyly, Microph... OMIM:617729
Coffin-Siris Syndrome 4
Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,... OMIM:614609
Oculo-Palato-Cerebral Syndrome
High, narrow palate, Small hand, Cleft palate, Short foot, Microphthalmia ORPHA:2714
Hajdu-Cheney Syndrome
Coarse metaphyseal trabecularization, Brachydactyly, Bowing of the long bones, Mitral stenosis, V... ORPHA:955
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Tented upper lip vermilion, Single transverse palmar crease, Deep philtrum, Tibial bowing, Short ... ORPHA:96334
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Tetraamelia Syndrome 2
Ventricular septal defect, Bilateral cleft lip, Cleft palate, Glossoptosis, Ankyloglossia OMIM:618021
Dubowitz Syndrome
Delayed eruption of teeth, Syndactyly, Single transverse palmar crease, Carious teeth, Cryptorchi... OMIM:223370
Donnai-Barrow Syndrome
Ventricular septal defect, Intestinal malrotation, Hypoplasia of the iris, Short sternum, Umbilic... OMIM:222448
22Q11.2 Duplication Syndrome
Ventricular septal defect, Cleft palate, Hypoplastic left heart, Transposition of the great arter... ORPHA:1727
Craniofacioskeletal Syndrome
Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, Small ... OMIM:300712
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Atrial septal defect, Ventricular septal defect, Cryptorchidism, Short toe, Or... ORPHA:1519
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Failure of eruption of permanent teeth, Cryptorchidism, Submucous cleft hard palate... ORPHA:2250
Chromosome 16P13.3 Duplication Syndrome
Tented upper lip vermilion, Proximal placement of thumb, Atrial septal defect, Microdontia, Bifid... OMIM:613458
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Ventricular septal d... ORPHA:2729
Coffin-Siris Syndrome 1
Single transverse palmar crease, Conical tooth, Prominent interphalangeal joints, Short philtrum,... OMIM:135900
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, ... OMIM:302960
Kinsship Syndrome
Thin upper lip vermilion, Single transverse palmar crease, Coxa valga, Thick lower lip vermilion,... OMIM:619297
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Brachydactyly, Narrow philtrum, Palmoplantar hyperkeratosis, Tibial bo... OMIM:601812
Gm1 Gangliosidosis
Ventricular septal defect, Camptodactyly of finger, Gingival overgrowth, Dysphagia, Abnormal hear... ORPHA:354
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Absent thumb, Short thumb, Cryptorchidism, 2-3 toe syndactyly, Truncus... OMIM:617516
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Absent outer dynein arms, Ventricular septal defect, Dextrocardia OMIM:616037
Oculopalatocerebral Syndrome
Microphthalmia, Cleft palate OMIM:257910
Charge Syndrome
Delayed eruption of teeth, Anophthalmia, Cleft upper lip, Aqueductal stenosis, Abnormal soft pala... ORPHA:138
Marfan Syndrome
Mitral valve calcification, Arachnodactyly, Dental crowding, Limited elbow movement, Protrusio ac... ORPHA:558
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Neuroocular Syndrome
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Prominent fingertip pads, Scapu... OMIM:619539
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Abnormal hand morphology, Osteolysis involving ... ORPHA:371428
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect OMIM:614432
Noonan Syndrome 8
Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Palmoplantar cutis laxa, Atrial sep... OMIM:615355
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Hydrocephalus OMIM:616538
Aicardi Syndrome
Intestinal polyposis, Cleft upper lip, Hiatus hernia, Malabsorption, Small hand, Cleft palate, Hi... ORPHA:50
Esophageal Atresia
Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Cleft lip, Pyloric stenosis... ORPHA:1199
Fontaine Progeroid Syndrome
Bicuspid aortic valve, High, narrow palate, Anteriorly placed anus, Oligodontia, Gastroesophageal... OMIM:612289
Warburg Micro Syndrome 4
Cryptorchidism, Narrow mouth, Long philtrum, Microphthalmia, Decreased testicular size OMIM:615663
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Cleft upper lip, Cleft palate, Microphthalmia, Tetralogy of Fallot OMIM:153400
Oculocerebrorenal Syndrome Of Lowe
Dental crowding, Deep philtrum, Gingivitis, Periodontitis, Gastroesophageal reflux, Abnormal dent... ORPHA:534
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Lactose intolerance, Ventricular septal defect, Sandal gap, Carious te... OMIM:619229
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Thin upper lip vermilion, Congenital hip dislocation, Ventricular septal de... OMIM:244450
Smith-Lemli-Opitz Syndrome
Dental crowding, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Gastroint... OMIM:270400
Developmental Delay With Or Without Dysmorphic Facies And Autism
Thin upper lip vermilion, Ventricular septal defect, Cleft lip, 2-3 toe cutaneous syndactyly, Cry... OMIM:618454
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, High, narrow palate, Atrial septal defect, Hepatoblastoma, Clinodacty... ORPHA:373
Degcags Syndrome
Oral-pharyngeal dysphagia, High palate, Gastroesophageal reflux, Atrial septal defect, Patent for... OMIM:619488
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... OMIM:613854
Tetraamelia Syndrome 1
Cleft upper lip, Hydrocephalus, Cleft palate, Hypoplastic pelvis, Microphthalmia, Anal atresia OMIM:273395
Feingold Syndrome 1
Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Short thumb, Short toe, 4-5 toe s... OMIM:164280
Trichohepatoneurodevelopmental Syndrome
Overlapping toe, Ventricular septal defect, Dental crowding, Hip dysplasia, Hip dislocation, Stea... OMIM:618268
Rabson-Mendenhall Syndrome
Ventricular septal defect, Dental crowding, Abnormality of the dentition, Gingival overgrowth, Fu... ORPHA:769
Ogden Syndrome
Everted upper lip vermilion, Ventricular septal defect, Broad hallux, High, narrow palate, Crypto... ORPHA:276432
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Ventricular septal defect, Hypoplasia of teeth OMIM:234050
Opitz Gbbb Syndrome
Natal tooth, Ventricular septal defect, Cleft lip, Cryptorchidism, Tracheoesophageal fistula, Cle... ORPHA:2745
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Calcaneovalgus deformi... ORPHA:3078
Pyruvate Dehydrogenase E1-Alpha Deficiency
Limb undergrowth, Gastroesophageal reflux, Ventricular septal defect, Single transverse palmar cr... ORPHA:79243
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Cryptorchidism ORPHA:363741
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Ventricular septal defect, Tarsal synostosis, Elbow flexion contracture, Cleft p... OMIM:178110
Kagami-Ogata Syndrome
Atrial septal defect, Ventricular septal defect, Coxa valga, Long fingers, Pulmonic stenosis, Lon... OMIM:608149
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Long philtrum, Microphthalmia, 3-4 finger syndactyly OMIM:615877
Oculotrichoanal Syndrome
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia ORPHA:2717
Warburg Micro Syndrome 2
Overlapping toe, Cryptorchidism, Microphthalmia, Clinodactyly of the 4th toe, Clinodactyly of the... OMIM:614225
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Cleft upper lip, Cryptorchidism, Split hand, Clubbing, Cleft palate, T... OMIM:600460
Skin Creases, Congenital Symmetric Circumferential, 2
Thin upper lip vermilion, Tapered finger, Microdontia, Long fingers, Narrow mouth, Carious teeth,... OMIM:616734
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Ventricular septal defect, Cryptorchidism,... OMIM:258315
Kleefstra Syndrome
Delayed eruption of teeth, Tented upper lip vermilion, Ventricular septal defect, Bicuspid aortic... ORPHA:261494
Townes-Brocks Syndrome
Anteriorly placed anus, Triphalangeal thumb, Atrial septal defect, Clinodactyly of the 5th finger... ORPHA:857
Culler-Jones Syndrome
Cryptorchidism, Cleft palate, Postaxial polydactyly, Cleft upper lip OMIM:615849
Dysosteosclerosis
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Abnormal... ORPHA:1782
Noonan Syndrome 4
Ventricular septal defect, Cryptorchidism, Dental malocclusion, Wide mouth, Thick vermilion borde... OMIM:610733
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... ORPHA:860
Holoprosencephaly 2
Median cleft lip and palate, Alobar holoprosencephaly, Submucous cleft hard palate, Bilateral cle... OMIM:157170
Histiocytoid Cardiomyopathy
Ventricular septal defect, Cardiomegaly, Hydrocephalus, Cleft palate, Microphthalmia, Congenital ... ORPHA:137675
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Dysphagia OMIM:612379
Goldberg-Shprintzen Syndrome
Ventricular septal defect, Aganglionic megacolon, Tapered finger, Increased femoral anteversion, ... OMIM:609460
Oculoauricular Syndrome
Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bif... OMIM:612109
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Pagod Syndrome
Encephalocele, Spina bifida, Situs inversus totalis, Meningocele, Hypoplastic left heart, Abnorma... ORPHA:991
Cranioectodermal Dysplasia 2
Syndactyly, Rhizomelia, Postaxial hand polydactyly, Cleft palate, Broad philtrum, Fused teeth, Po... OMIM:613610
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Dental c... OMIM:300967
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Monosomy 9P
Proximal placement of thumb, Abnormality of the dentition, Abnormality of the tarsal bones, Narro... ORPHA:261112
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... OMIM:617205
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Velopharyngeal insufficiency, Ventricular septal defect, Dental malocclusion OMIM:613680
Witteveen-Kolk Syndrome
Proximal placement of thumb, High, narrow palate, Short philtrum, High palate, Gastroesophageal r... OMIM:613406
Zellweger Syndrome
Ventricular septal defect, Malabsorption, Pyloric stenosis, Cryptorchidism, Abnormality of the to... ORPHA:912
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Mosaic Variegated Aneuploidy Syndrome 2
Atrial septal defect, Rhizomelia, Ventricular septal defect, Single transverse palmar crease, Nar... OMIM:614114
Diets-Jongmans Syndrome
Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, Wide mouth, Heterotaxy, Hip ... OMIM:618846
Fanconi Anemia, Complementation Group E
Absent thumb, Absent radius, Short thumb, Cryptorchidism, Abnormal heart morphology, Microphthalm... OMIM:600901
De Barsy Syndrome
Delayed eruption of teeth, Congenital hip dislocation, Ventricular septal defect, Cryptorchidism,... ORPHA:2962
Diamond-Blackfan Anemia 12
Ventricular septal defect, Triphalangeal thumb OMIM:615550
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Ventricular septal defect, Intestinal malrotation, Colon perforatio... OMIM:600001
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Cryptorchidism, Ventricular septal defect, Malabsorption ORPHA:452
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly, Hand oligodactyly OMIM:207770
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... ORPHA:261183
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Broad hallux, Arachnodactyly, Cubitus valgus, Dental malocclusion, High palate, Short finger, Mic... OMIM:601552
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Gastrointestinal ... OMIM:617798
Rodrigues Blindness
Microphthalmia, Tooth malposition OMIM:268320
Matthew-Wood Syndrome
Cryptorchidism, Microphthalmia, Anophthalmia, Duodenal stenosis ORPHA:2470
Peroxisome Biogenesis Disorder 1A (Zellweger)
Ulnar deviation of the hand, Ventricular septal defect, Rocker bottom foot, Single transverse pal... OMIM:214100
Brachytelephalangic Chondrodysplasia Punctata
Optic disc hypoplasia, Optic nerve hypoplasia, Ventricular septal defect, Calcaneal epiphyseal st... ORPHA:79345
Microphthalmia, Syndromic 1
Anophthalmia, Bicuspid aortic valve, Dental crowding, Abnormal palmar dermatoglyphics, High, narr... OMIM:309800
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:49827
Transaldolase Deficiency
Ventricular septal defect, Deep philtrum, Wide mouth, Thin vermilion border, Short philtrum, Atri... OMIM:606003
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Inte... OMIM:618280
Fanconi Anemia, Complementation Group C
Ventricular septal defect, Absent thumb, Absent radius, Short thumb, Cryptorchidism, Microphthalm... OMIM:227645
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Tented upper lip vermilion, Rocker bottom foot, Postaxial polydactyly, Single transverse palmar c... OMIM:617527
Loeys-Dietz Syndrome 2
Syndactyly, Arachnodactyly, Bicuspid aortic valve, Postaxial polydactyly, Eosinophilic infiltrati... OMIM:610168
Fanconi Anemia, Complementation Group A
Absent thumb, Absent radius, Short thumb, Cryptorchidism, Abnormal heart morphology, Microphthalm... OMIM:227650
Methimazole Embryofetopathy
Esophageal atresia, Ventricular septal defect, Tracheoesophageal fistula ORPHA:1923
Bardet-Biedl Syndrome 20
Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndactyly, ... OMIM:619471
Phakomatosis Pigmentokeratotica
Hemiatrophy, Cryptorchidism, Spina bifida ORPHA:2874
Micro Syndrome
Microphthalmia, High palate, Short philtrum, Cryptorchidism ORPHA:2510
Peters-Plus Syndrome
Short lingual frenulum, Single transverse palmar crease, Proximal placement of thumb, Limited elb... OMIM:261540
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Arachnodactyly, Ventricular septal defect, Pyloric stenosis, Crypt... ORPHA:464306
Histiocytosis-Lymphadenopathy Plus Syndrome
Hallux valgus, Ventricular septal defect, Rocker bottom foot, Camptodactyly of finger, Cardiomega... OMIM:602782
Holoprosencephaly 1
Alobar holoprosencephaly, Single ventricle, Microphthalmia, Ethmocephaly, Median cleft lip and pa... OMIM:236100
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Cornelia De Lange Syndrome
Micromelia, Proximal placement of thumb, Downturned corners of mouth, Widely spaced teeth, High p... ORPHA:199
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Fraser Syndrome 2
Intestinal malrotation, Rectal atresia, Cutaneous syndactyly, Narrow mouth, Microphthalmia, Anal ... OMIM:617666
Braddock Syndrome
Preaxial hand polydactyly ORPHA:52047
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Hydrocele testis, Atrial s... OMIM:601927
Chops Syndrome
Ventricular septal defect, High, narrow palate, Cryptorchidism, Anomalous pulmonary venous return... OMIM:616368
Heterotaxy, Visceral, 12, Autosomal
Abdominal situs ambiguus, Ventricular septal defect, Dextrocardia, Left Isomerism, Situs inversus... OMIM:619702
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Metaphyseal dysplasia, Short metacarpal, Ventricular septal defect, Metaphyseal chondrodysplasia,... OMIM:250410
Alg9-Cdg
Villous atrophy, Right ventricular dilatation, Abnormal left ventricular outflow tract morphology... ORPHA:79328
Proboscis Lateralis
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Agenesis of canine, Orofacial cl... ORPHA:141099
7Q11.23 Microduplication Syndrome
Thin upper lip vermilion, Ventricular septal defect, Short lingual frenulum, Single transverse pa... ORPHA:96121
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Single transverse palmar crea... OMIM:607932
Cranioectodermal Dysplasia 3
Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Hypoplasia... OMIM:614099
Tbck-Related Intellectual Disability Syndrome
Broad toe, Tented upper lip vermilion, Ventricular septal defect, High, narrow palate, Cryptorchi... ORPHA:488632
Branchiooculofacial Syndrome
Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Cleft upper lip, Malr... OMIM:113620
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Clinodactyly of the 5th finger, Microphthalmia OMIM:617306
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Microphthalmia, Bilateral microphthalmos ORPHA:2399
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, High palate, P... OMIM:616564
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Dental crowding, High palate, Gastroesophageal reflux, Atrial septal defec... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Dental crowding, High palate, Gastroesophageal reflux, Atrial septal defec... ORPHA:353277
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Phelan-Mcdermid Syndrome
Ventricular septal defect, Dental malocclusion, 2-3 toe syndactyly, Large hands, High palate, Wid... OMIM:606232
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Clinod... ORPHA:457284
Orofaciodigital Syndrome Type 14
Broad hallux, Deviation of the hallux, Ventricular septal defect, Accessory oral frenulum, Hamart... ORPHA:434179
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Thick upper lip vermilion, Ventricular septal defect, Phthisis bulbi, Thic... OMIM:619727
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Unilateral cryptorchidism, Bilateral cryptorchidism, Cryptorchidism, M... OMIM:613457
Alobar Holoprosencephaly
Median cleft lip, Hydrocephalus, Hip dislocation, Cleft palate, Abnormal heart morphology, Neural... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Median cleft lip, Hydrocephalus, Hip dislocation, Cleft palate, Abnormal heart morphology, Neural... ORPHA:93926
Lobar Holoprosencephaly
Median cleft lip, Hydrocephalus, Hip dislocation, Cleft palate, Abnormal heart morphology, Neural... ORPHA:93924
Semilobar Holoprosencephaly
Median cleft lip, Hydrocephalus, Hip dislocation, Cleft palate, Abnormal heart morphology, Neural... ORPHA:220386
Schinzel-Giedion Syndrome
Abnormality of the gingiva, Tibial bowing, Anteriorly placed anus, Short philtrum, High palate, H... ORPHA:798
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Short metacarpal, Ventricular septal defect, Metaphyseal chondrodysplasia, Cryptor... ORPHA:166035
Manitoba Oculotrichoanal Syndrome
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia OMIM:248450
Cardiac Diverticulum
Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ... ORPHA:1686
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
High palate, Ventricular septal defect, Cleft palate ORPHA:52055
Trichohepatoenteric Syndrome 1
Villous atrophy, Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, ... OMIM:222470
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Ventricular septal defect, Abnormal pulmonary valve morphology, Cleft soft palate,... ORPHA:268261
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Esophageal ... OMIM:206900
Joubert Syndrome 24
Postaxial foot polydactyly, Postaxial hand polydactyly, Talipes equinovarus OMIM:616654
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
Arboleda-Tham Syndrome
Secundum atrial septal defect, Bilateral cryptorchidism, Downturned corners of mouth, Short philt... OMIM:616268
Noonan Syndrome 2
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Cardiomyopathy, Hypertrophic cardiomy... OMIM:605275
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Tapered finger, Microdontia, Cryptorchidism, Small hand, Hip dysplasia, Thick vermilion border, A... OMIM:620005
Microphthalmia, Syndromic 9
Anophthalmia, Ventricular septal defect, Cryptorchidism, Bilateral microphthalmos, Hypoplastic le... OMIM:601186
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, D... OMIM:300855
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dental crowding, Bilateral cryptorchidism, High, narrow palate, Short philtrum, Widely spaced tee... ORPHA:466791
Mosaic Trisomy 20
Ventricular septal defect, Down-sloping shoulders, Cleft lip, Cryptorchidism, Dysplastic tricuspi... ORPHA:1724
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Gastroesophageal reflux, Ventricular septal defect, Dysphagia OMIM:619909
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
2-5 finger syndactyly, Optic nerve hypoplasia, Camptodactyly of finger, Cryptorchidism, 4-5 finge... ORPHA:468631
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Triangular mouth, Intestinal obstruction, Malabsorption OMIM:601675
Trichothiodystrophy
Ventricular septal defect, Carious teeth, High, narrow palate, Cryptorchidism, Bilateral micropht... ORPHA:33364
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Thin upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Cryptorchidism, Deep... OMIM:617506
Bardet-Biedl Syndrome 6
Syndactyly, Postaxial polydactyly OMIM:605231
Arima Syndrome
Postaxial hand polydactyly, Esophageal varix, Postaxial foot polydactyly, Wide mouth, Occipital m... OMIM:243910
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Cryptorchidism, Postaxial hand polydactyly, Ventricular septal defect ORPHA:2519
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia, Long philtrum OMIM:615145
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial hand polydactyly, Sup... OMIM:617088
Yunis-Varon Syndrome
Congenital hip dislocation, Single transverse palmar crease, Short metatarsal, Palmoplantar hyper... OMIM:216340
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Ventricular septal defect, Cleft upper lip, Hydrocephalus,... OMIM:164210
Keutel Syndrome
Ventricular septal defect, Short distal phalanx of finger ORPHA:85202
Neurocardiofaciodigital Syndrome
Syndactyly, Double inlet left ventricle, Thin vermilion border, Polydactyly, High palate, Atrial ... OMIM:619869
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Intestinal malrotation, Partial ... OMIM:270100
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Kabuki Syndrome 1
Atrial septal defect, Anal stenosis, Congenital hip dislocation, Ventricular septal defect, Intes... OMIM:147920
X-Linked Intellectual Disability, Nascimento Type
Overlapping toe, Ventricular septal defect, Cryptorchidism, Deep philtrum, Double outlet right ve... ORPHA:163956
Cockayne Syndrome B
Delayed eruption of primary teeth, Carious teeth, Cryptorchidism, Dental malocclusion, Ivory epip... OMIM:133540
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Flexion contracture of finger, Meningocele, Palmoplantar keratoderma ORPHA:1010
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Orofacial cleft, High palate, Gastroesophageal reflux, Atrial septal defec... OMIM:607872
Bosma Arhinia Microphthalmia Syndrome
Cleft lip, Cryptorchidism, Dental malocclusion, Cleft palate, Hypoplasia of teeth, High palate, M... OMIM:603457
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Atrioventricular canal defec... OMIM:265380
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Cardiomegaly, Cryptorchidism, Gingival overgrowth, Macroglossia, High ... ORPHA:96191
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Abnormal dental enamel morphology, Hydrocephalus, Dilated cardiomyopathy, Mitral va... ORPHA:2556
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Short philtr... ORPHA:261537
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Single transverse palmar crease, Tapered finger, Cryptorchidism, Denta... ORPHA:444072
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism, Postaxial polydactyly OMIM:615824
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Congenital hip dislocation, Abnormal periodontium morphology, High palate, Atrial septal defect, ... ORPHA:480880
Myopathy With Extrapyramidal Signs
Tented upper lip vermilion, Ventricular septal defect OMIM:615673
Hardikar Syndrome
Ventricular septal defect, Cleft soft palate, Intestinal malrotation, Celiac disease, Hematemesis... OMIM:301068
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia, Abnormality of the dentition ORPHA:1806
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Bilateral cryptorchidism, High palate, Ventricular septal defect, Bifid uvula OMIM:300472
Mowat-Wilson Syndrome
Bicuspid aortic valve, Dental crowding, Cleft hard palate, Gastrointestinal dysmotility, Calcaneo... ORPHA:2152
Knobloch Syndrome 1
Occipital encephalocele, Pyloric stenosis, Phthisis bulbi, Macular hypoplasia, Occipital meningoc... OMIM:267750
Khan-Khan-Katsanis Syndrome
Tented upper lip vermilion, Postaxial polydactyly, Triangular mouth, Buphthalmos, Dysphagia, Clin... OMIM:618460
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Short femur, Abnormal mitochondrial shape, Orofacial cleft, Polydactyly, Gastroeso... ORPHA:17
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Hip dysplasia, Atrial septal defect, Patent foramen ovale, Right ventr... OMIM:208085
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Hydrocephalus, Abnormal tibia morphology, Genu valgum, Abnormal heart ... ORPHA:363700
Oeis Complex
Congenital hip dislocation, Intestinal malrotation, Cryptorchidism, Myelomeningocele, Hydrocephal... OMIM:258040
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... ORPHA:99095
Faciocardiomelic Syndrome
Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypoplastic pelvis, Long philtru... OMIM:612731
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Thin upper lip vermilion, Ventricular septal defect, Optic disc hypoplasia, Exaggerated cupid's b... OMIM:619306
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Ventricular septal defect, High palate, Talipes equinovarus, Gastroesophageal reflux, Hand clench... OMIM:614653
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Noonan Syndrome 9
Cryptorchidism, Ventricular septal defect, Pulmonic stenosis OMIM:616559
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Dental crowding, Gastroesophageal reflux, Atrial septal defect, Broad hall... ORPHA:353281
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valgum OMIM:162200
Treacher Collins Syndrome 1
Cleft soft palate, Cryptorchidism, Bilateral microphthalmos, Cleft palate, Abnormal heart morphol... OMIM:154500
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Cardiac Valvular Dysplasia 1
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... OMIM:212093
Peroxisome Biogenesis Disorder 5A (Zellweger)
Ventricular septal defect, Single transverse palmar crease, Metatarsus adductus, Cryptorchidism, ... OMIM:614866
Congenital Disorder Of Glycosylation, Type It
Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Pierre-Robin sequence, Cleft pal... OMIM:614921
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Atrial septal defect, Thin upper lip vermilion, Toe syndactyly, Ventricular septal defect, Single... ORPHA:459070
Coffin-Siris Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Hepatoblastoma, C... ORPHA:1465
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Microphthalmia, Dilated cardiomyopathy, Delayed eruption of primary ... OMIM:300952
Costello Syndrome
Hyperextensibility of the finger joints, Ventricular septal defect, Limited elbow movement, Pylor... OMIM:218040
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... ORPHA:3427
Early Infantile Epileptic Encephalopathy
Ventricular septal defect, Cleft palate, Short finger, Broad finger, Umbilical hernia, Broad phal... ORPHA:1934
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Overlapping toe, Intestinal malrotation, Hypoplastic philtrum, Hiatus ... OMIM:616682
Viss Syndrome
Chronic gastritis, High, narrow palate, Right ventricular dilatation, High palate, Gastroesophage... OMIM:619472
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Ventricular septal defect, Metatarsus adductus, Abnormality of the g... ORPHA:513456
Neurodevelopmental Disorder With Language Delay And Seizures
Cryptorchidism, Ventricular septal defect OMIM:619908
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Intestinal malrotation, Patent foramen o... ORPHA:2255
Williams Syndrome
Bicuspid aortic valve, Cardiomegaly, Rectal prolapse, Gastroesophageal reflux, Atrial septal defe... ORPHA:904
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hip dysplasia, Ventricular septal defect, Right ventricular hypertrophy OMIM:613404
Diamond-Blackfan Anemia
Ventricular septal defect, Cleft soft palate, Absent thumb, Short thumb, Partial duplication of t... ORPHA:124
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Short philtr... ORPHA:261552
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect, High, narrow palate, Hydrocephalus, Hematochezia, Short philtrum OMIM:619575
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia, High palate OMIM:110100
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect, Dysphagia OMIM:618325
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly OMIM:615989
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Anteriorly placed anus, ... ORPHA:26793
Phace Association
Microphthalmia, Ventricular septal defect, Optic nerve hypoplasia OMIM:606519
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Ventricular septal defect OMIM:616901
Mowat-Wilson Syndrome
Delayed eruption of teeth, Ventricular septal defect, Aganglionic megacolon, Pyloric stenosis, Cr... OMIM:235730
Structural Heart Defects And Renal Anomalies Syndrome
Overlapping toe, Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial sep... OMIM:617478
Mgat2-Cdg
Ventricular septal defect, Dental crowding, Abnormal heart morphology, Gastroesophageal reflux, O... ORPHA:79329
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Cleft lip, Ventricular septal defect, Cleft palate OMIM:611812
Cardiospondylocarpofacial Syndrome
Atrial septal defect, Ventricular septal defect, Tarsal synostosis, Muscular ventricular septal d... OMIM:157800
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricula... OMIM:619534
Zttk Syndrome
Ventricular septal defect, Abnormality of the dentition, Submucous cleft hard palate, Small hand,... OMIM:617140
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Submuco... ORPHA:3047
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Optic nerve hypoplasia, Polydactyly, Holoprosencephaly, Abnormal digit mor... ORPHA:95494
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Micromelia, Cleft upper lip, Preaxial hand polydactyly, Postaxial hand polydactyly, Esophageal at... ORPHA:93271
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Anomalous pulmonary venous ret... ORPHA:3097
Fanconi Anemia, Complementation Group N
Short thumb, Ventricular septal defect OMIM:610832
Noonan Syndrome 3
Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, High palate, Pulmonic stenosis,... OMIM:609942
Scimitar Syndrome
Ventricular septal defect, Dextrocardia, Mitral atresia, Partial anomalous pulmonary venous retur... ORPHA:185
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Ventricular septal defect, Small hand, Fibular hypoplasia, Abnormal hea... ORPHA:444077
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect, Metaphyseal widening, Phthisis bulbi, Tibial bowing, Microphthalmia OMIM:259770
Noonan Syndrome 1
Ventricular septal defect, High, narrow palate, Cryptorchidism, Dental malocclusion, Cleft palate... OMIM:163950
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Maternal Uniparental Disomy Of Chromosome 2
Clinodactyly of the 5th finger, Preaxial hand polydactyly, Bilateral cryptorchidism ORPHA:96179
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Thin upper lip vermilion, Sandal gap, Optic nerve hypoplasia, Ventricular septal defect, Long fin... OMIM:620330
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ventricular septal defect, Tapered finger, Cryptorchidism, Short toe, Short foot, Gastroesophagea... ORPHA:464311
Incontinentia Pigmenti
Hypoplasia of the fovea, Delayed eruption of teeth, Conical tooth, Oligodontia, Hypodontia, Micro... OMIM:308300
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Talipe... ORPHA:573278
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Anal stenosis, Congenital hip dislocation, Ventricula... OMIM:606170
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect OMIM:617021
Seckel Syndrome 9
Atrial septal defect, Ventricular septal defect, Talipes equinovarus OMIM:616777
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Ventricular septal defect, Cryptorchidism, Deep palmar crease, High palate, Pulmonic stenosis, At... OMIM:607721
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Diaphragmatic Hernia 4, With Cardiovascular Defects
Finger syndactyly, Ventricular septal defect, Optic nerve hypoplasia, Cryptorchidism, 2-3 toe syn... OMIM:620025
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... OMIM:615474
Exstrophy-Epispadias Complex
Abnormality of the gastrointestinal tract, Anal stenosis, Spina bifida, Cryptorchidism, Hydroceph... ORPHA:322
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Dental crowding, Single transverse palmar crease, Intern... OMIM:619503
Renal Agenesis
Ventricular septal defect, Talipes equinovarus, Anal atresia ORPHA:411709
Thauvin-Robinet-Faivre Syndrome
Ventricular septal defect, Bowing of the legs, Mitral valve prolapse, Macroglossia, Large hands, ... OMIM:617107
Congenital Tracheal Stenosis
Ventricular septal defect, Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal steno... ORPHA:141127
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Broad toe, Atrial septal defect, Ventricular septal defect, Single transverse palmar crease, Tape... OMIM:619522
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia OMIM:120200
Autosomal Dominant Kenny-Caffey Syndrome
Decreased testicular size, Stenosis of the medullary cavity of the long bones, Persistence of pri... ORPHA:93325
Transketolase Deficiency
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology ORPHA:488618
Meacham Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venou... OMIM:608978
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Esophageal atresia, Partial anomalous pulmonary venous r... ORPHA:95430
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect ORPHA:1455
Pallister-Killian Syndrome
Tented upper lip vermilion, Congenital hip dislocation, Single transverse palmar crease, Anterior... OMIM:601803
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Single transverse pal... OMIM:619475
Diamond-Blackfan Anemia 10
Ventricular septal defect, Cleft palate OMIM:613309
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Thick vermilion border, Long philtrum, Atrial septal defect, Microphthalmia ORPHA:2526
Syndromic Diarrhea
Villous atrophy, Ventricular septal defect, Bicuspid aortic valve, Gastritis, Hepatoblastoma, Abn... ORPHA:84064
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Buphthalmos, Hypoplasia of the retina, Everted lower lip vermilion, Microphthalmia OMIM:253280
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect OMIM:126320
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Absent ou... OMIM:615067
Williams-Beuren Syndrome
Bicuspid aortic valve, Rectal prolapse, Gastroesophageal reflux, Atrial septal defect, Microdonti... OMIM:194050
Choanal Atresia
Polydactyly ORPHA:137914
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Anteriorly placed anus, Hypopla... OMIM:618748
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect ORPHA:369929
Brain-Lung-Thyroid Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Hypodontia, Atrial septal defect, ... ORPHA:209905
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atrial septal defect, Ventricular septal defect OMIM:610978
Cockayne Syndrome
Abnormal dental morphology, Delayed eruption of primary teeth, Carious teeth, Cryptorchidism, Den... ORPHA:191
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Small hand, Single transverse palmar crease, Ventricular septal hypert... OMIM:614947
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Thickened cortex of long bones, Abnormality of the medullary cavity of the long b... OMIM:127000
Phace Syndrome
Optic nerve hypoplasia, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol... ORPHA:42775
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Legius Syndrome
Desmoid tumors, Mitral valve prolapse, Diaphyseal dysplasia, Polydactyly, Pulmonic stenosis, Clin... ORPHA:137605
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect, Intestinal malrotation, Jejunoileal ulceration, Gastrointestinal atres... ORPHA:436252
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Wrist swelling, Cryptorchidism, Hip dislocation, Genu valgum, Finger swe... OMIM:309000
Papillorenal Syndrome
Microphthalmia OMIM:120330
Cockayne Syndrome Type 3
Carious teeth, Cardiomyopathy, Gastroesophageal reflux, Microphthalmia, Enamel hypoplasia ORPHA:90324
Keutel Syndrome
Ventricular septal defect, Short hallux, Premature fusion of phalangeal epiphyses, Short thumb, D... OMIM:245150
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Pericardial effusion, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:618775
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Leigh Syndrome
Hypertrophic cardiomyopathy, Gastrointestinal dysmotility, Ventricular septal defect, Dysphagia ORPHA:506
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Coronary sinus enlargement, Narrow philtrum, Thick vermilion border, H... OMIM:619268
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Aortic valve atresia, Double outlet right ventr... ORPHA:2299
Digeorge Syndrome
Ventricular septal defect, High, narrow palate, Cleft palate, Hydrocele testis, High palate, Shor... OMIM:188400
Penile Agenesis
Ventricular septal defect, Rectal fistula, Cryptorchidism, Anorectal anomaly, Tracheoesophageal f... ORPHA:49
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... OMIM:609049
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Atrial septal defect, Coronary artery fistula, Ventricular septal defect, Cryptorchidism OMIM:620024
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect OMIM:610338
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
High palate, Ventricular septal defect OMIM:619418
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Sotos Syndrome
Hip contracture, Ventricular septal defect, Aganglionic megacolon, Abnormality of the dentition, ... ORPHA:821
Liver Disease, Severe Congenital
Chronic gastritis, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation o... OMIM:619991
Johanson-Blizzard Syndrome
Colonic diverticula, Atrial septal defect, Ventricular septal defect, Single transverse palmar cr... OMIM:243800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Deep philtrum, Abnormal heart m... ORPHA:438213
Alagille Syndrome 1
Hypoplasia of the ulna, Ventricular septal defect, Hepatocellular carcinoma, Atrial septal defect... OMIM:118450
Isolated Arrhinia
Microphthalmia ORPHA:1134
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Ventricular septal defect, Aortopulmonary window, Hypoplastic left heart, Transposition of the gr... ORPHA:99050
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Su... ORPHA:99125
Cutis Laxa, Autosomal Dominant 1
Ventricular septal defect, Long philtrum OMIM:123700
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia, Hydrocephalus OMIM:175780
Eisenmenger Syndrome
Ventricular septal defect, Clubbing, Aortopulmonary window, Abnormal heart morphology, Bacterial ... ORPHA:97214
Congenital Disorder Of Glycosylation, Type Iiw
Ventricular septal defect, Supernumerary tooth, Gastroesophageal reflux, Tetralogy of Fallot, Ank... OMIM:619525
Norrie Disease
Aplasia/Hypoplasia of the lens, Cryptorchidism, Hypoplasia of the iris, Thin vermilion border, Mi... ORPHA:649

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tctn2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tctn2.

No publications found that use IMPC mice or data for Tctn2.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Tctn2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Tctn2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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